Lower regulatory frequency for postural control in patients with fibromyalgia and chronic fatigue syndrome

PubMed Central

Rasouli, Omid; Vasseljen, Ottar; Fors, Egil A.; Lorås, Håvard W.

2018-01-01

As many similar symptoms are reported in fibromyalgia (FM) and chronic fatigue syndrome (CFS), underlying defcits may potentially also be similar. Postural disequilibrium reported in both conditions may thus be explained by similar deviations in postural control strategies. 75 females (25/group FM, CFS and control, age 19–49 years) performed 60 s of quiet standing on a force platform in each of three conditions: 1) firm surface with vision, 2) firm surface without vision and, 3) compliant surface with vision. Migration of center of pressure was decomposed into a slow and a fast component denoting postural sway and lateral forces controlling postural sway, analyzed in the time and frequency domains. Main effects of group for the antero-posterior (AP) and medio-lateral (ML) directions showed that patients displayed larger amplitudes (AP, p = 0.002; ML, p = 0.021) and lower frequencies (AP, p < 0.001; ML, p < 0.001) for the slow component, as well as for the fast component (amplitudes: AP, p = 0.010; ML, p = 0.001 and frequencies: AP, p = 0.001; ML, p = 0.029) compared to controls. Post hoc analyses showed no significant differences between patient groups. In conclusion, both the CFS- and the FM-group differed from the control group. Larger postural sway and insufficient control was found in patients compared to controls, with no significant differences between the two patient groups. PMID:29617424

The common single-nucleotide polymorphism rs2681472 is associated with early-onset preeclampsia in Northern Han Chinese women.

PubMed

Wan, Ji-Peng; Wang, Hong; Li, Chang-Zhong; Zhao, Han; You, Li; Shi, Dong-Hong; Sun, Xiu-Hua; Lv, Hong; Wang, Fei; Wen, Ze-Qing; Wang, Xie-Tong; Chen, Zi-Jiang

2014-11-01

Preeclampsia, characterized by hypertension and proteinuria, remains a leading cause of maternal morbidity and mortality. Recently, a genome-wide association study (GWAS) identified the single-nucleotide polymorphism, rs2681472, as a new hypertension susceptibility genetic variant. The purpose of this study was to evaluate the association between preeclampsia and rs268172 in a Northern Han Chinese population. We genotyped 1218 unrelated Northern Han Chinese women, including 515 patients with preeclampsia and 703 healthy controls. No significant differences were detected in the allele frequencies between patients and controls (P = .23). When patients were divided into early-onset and late-onset preeclampsia according to gestational age of disease onset, the allele frequencies significantly differed between controls and patients with early-onset preeclampsia (P = .02). Genotype frequencies also were significantly different between controls and patients early-onset preeclampsia when data were analyzed under additive (P = .03) and dominant (P = .009) models. We replicated this association in an independent Northern Han Chinese population and observed a significant difference in the allele frequencies between patients with early-onset preeclampsia and controls (P = .011). We report that rs2681472 is associated with early-onset preeclampsia in Northern Han Chinese women. © The Author(s) 2014.

[Association between polymorphism in DVWA and IL-1beta and Kashin-Beck disease].

PubMed

Y U, Min; Guo, Xiong; Gao, Xiao-Yun; Lai, Jiang-Hua; Tu, Qian-Qian

2010-07-01

To investigate the association between IL-1beta and DVWA gene and Kashin-Beck disease (KBD). Peripheral genomic DNA were extracted from 105 patients with KBD and 98 healthy controls. PCR-RFLP were performed to detect SNP loci of IL-1beta gene and DVWA gene. The patients with KBD had significantly higher frequency of rs16944 (IL-1beta) locus (chi2 = 24.28, P < 0.001) and single allele frequency of rs16944 (chi2 = 5.683, P = 0.0171) than the healthy controls. There were no significant differences in genotype frequencies,single allele frequencies and haplotypes in rs4685241 and rs1143627 between the patients with KBD and the healthy controls. rs16944 (IL-1beta) is associated with KBD.

Frequency of Atrial Septal Aneurysms in Patients with Cerebral Ischemic Events

NASA Technical Reports Server (NTRS)

Agmon, Yoram; Khandheria, Bijoy K.; Meissner, Irene; Gentile, Federico; Whisnant, Jack P.; Sicks, JoRean D.; O'Fallon, W. Michael; Covalt, Jody L.; Wiebers, David O.; Seward, James B.

1999-01-01

Background-Atrial septal aneurysm (ASA) is a putative risk factor for cardioembolism. However, the frequency of ASA in the general population has not been adequately determined. Therefore, the frequency in patients with cerebral ischemic events, compared with the frequency in the general population, is poorly defined. We sought to determine the frequency of ASA in the general population and to compare the frequency of ASA in patients with cerebral ischemic events with the frequency in the general population. Methods and Results-The frequency of ASA in the population was determined in 363 subjects, a sample of the participants in the Stroke Prevention: Assessment of Risk in a Community study (control subjects), and was compared with the frequency in 355 age- and sex-matched patients undergoing transesophageal echocardiography in search of a cardiac source of embolism after a focal cerebral ischemic event. The proportion with ASA was 7.9% in patients versus 2.2% in control subjects (P=0.002; odds ratio of ASA, 3.65; 95% CI, 1.64 to 8.13, in patients versus control subjects). Patent foramen ovale (PFO) was detected with contrast injections in 56% of subjects with ASA. The presence of ASA predicted the presence of PFO (odds ratio of PFO, 4.57; 95% CI, 2.18 to 9.57, in subjects with versus those without ASA). In 86% of subjects with ASA and cerebral ischemia, transesophageal echocardiography did not detect an alternative source of cardioembolism other than an associated PFO. Conclusions-The prevalence of ASA based on this population-based study is 2.2%. The frequency of ASA is relatively higher in patients evaluated with transesophageal echocardiography after a cerebral ischemic event. ASA is frequently associated with PFO, suggesting paradoxical embolism as a mechanism of cardioembolism. In patients with cerebral ischemia and ASA, ASA (with or without PFO) commonly is the only potential cardioembolic source detected with transesophageal echocardiography.

High Frequency of Fibromyalgia in Patients With Acne Vulgaris.

PubMed

Yazmalar, Levent; Çelepkolu, Tahsin; Batmaz, İbrahim; Sariyildiz, Mustafa Akif; Sula, Bilal; Alpayci, Mahmut; An, İsa; Burkan, Yahya Kemal; Uçak, Haydar; Çevik, Remzi

2016-06-01

This study aims to investigate the frequency of fibromyalgia syndrome and to specify fibromyalgia syndrome-associated clinical symptoms in patients with acne vulgaris. Eighty-eight patients (28 males, 60 females; mean age 23.2±5.1 years; range 18 to 40 years) with acne vulgaris and age, sex- and body mass index-similar 76 healthy controls (14 males, 62 females; mean age 24.5±2.9 years; range 18 to 35 years) were included. Acne vulgaris was evaluated by using the Global Acne Scale, while Hospital Anxiety and Depression Scale was used to evaluate anxiety. Fibromyalgia-associated pain, sleep disturbance, anxiety, and menstrual cycle disturbance were significantly more frequent in patients with acne vulgaris than controls. Also, the severity of anxiety and the number of tender points were significantly higher in the acne vulgaris patients than controls. This study indicates that patients with acne vulgaris have increased frequency of fibromyalgia syndrome than healthy controls (21.6% versus 5.3%, respectively).

Multiple sclerosis affects the frequency content in the vertical ground reaction forces during walking.

PubMed

Wurdeman, Shane R; Huisinga, Jessie M; Filipi, Mary; Stergiou, Nicholas

2011-02-01

Multiple sclerosis is a progressive neurological disease that results in a high incident of gait disturbance. Exploring the frequency content of the ground reaction forces generated during walking may provide additional insights to gait in patients with multiple sclerosis that could lead to specific tools for differential diagnosis. The purpose of this study was to investigate differences in the frequency content of these forces in an effort to contribute to improved clinical management of this disease. Eighteen patients and eighteen healthy controls walked across a 10 meter long walkway. The anterior-posterior and vertical ground reaction forces generated during the stance phase of gait were evaluated in the frequency domain using fast Fourier transformation. T-tests were utilized for comparison of median frequency, the 99.5% frequency, and the frequency bandwidth between patients and healthy controls and also for comparisons between patients with mild and moderate severity. Patients with multiple sclerosis had significantly lower 99.5% frequency (P=0.006) and median frequency (P<0.001) in the vertical ground reaction force. No differences were found in the anterior-posterior reaction force frequency content. There were no differences between patients with mild and moderate severity. The lower frequency content suggests lesser vertical oscillation of the center of gravity. Lack of differences between severities may suggest presence of differences prior to currently established diagnosis timelines. Analysis of the frequency content may potentially serve to provide earlier diagnostic assessment of this debilitating disease. Copyright © 2010 Elsevier Ltd. All rights reserved.

Increased lucid dreaming frequency in narcolepsy.

PubMed

Rak, Michael; Beitinger, Pierre; Steiger, Axel; Schredl, Michael; Dresler, Martin

2015-05-01

Nightmares are a frequent symptom in narcolepsy. Lucid dreaming, i.e., the phenomenon of becoming aware of the dreaming state during dreaming, has been demonstrated to be of therapeutic value for recurrent nightmares. Data on lucid dreaming in narcolepsy patients, however, is sparse. The aim of this study was to evaluate the frequency of recalled dreams (DF), nightmares (NF), and lucid dreams (LDF) in narcolepsy patients compared to healthy controls. In addition, we explored if dream lucidity provides relief during nightmares in narcolepsy patients. We interviewed patients with narcolepsy and healthy controls. Telephone interview. 60 patients diagnosed with narcolepsy (23-82 years, 35 females) and 919 control subjects (14-93 years, 497 females). N/A. Logistic regression revealed significant (P < 0.001) differences in DF, NF, and LDF between narcolepsy patients and controls after controlling for age and gender, with effect sizes lying in the large range (Cohen's d > 0.8). The differences in NF and LDF between patients and controls stayed significant after controlling for DF. Comparison of 35 narcolepsy patients currently under medication with their former drug-free period revealed significant differences in DF and NF (z < 0.05, signed-rank test) but not LDF (z = 0.8). Irrespective of medication, 70% of narcolepsy patients with experience in lucid dreaming indicated that dream lucidity provides relief during nightmares. Narcolepsy patients experience a markedly higher lucid dreaming frequency compared to controls, and many patients report a positive impact of dream lucidity on the distress experienced from nightmares. © 2015 Associated Professional Sleep Societies, LLC.

Analysis of the High-Frequency Content in Human QRS Complexes by the Continuous Wavelet Transform: An Automatized Analysis for the Prediction of Sudden Cardiac Death

PubMed Central

García Iglesias, Daniel; Roqueñi Gutiérrez, Nieves; De Cos, Francisco Javier; Calvo, David

2018-01-01

Background: Fragmentation and delayed potentials in the QRS signal of patients have been postulated as risk markers for Sudden Cardiac Death (SCD). The analysis of the high-frequency spectral content may be useful for quantification. Methods: Forty-two consecutive patients with prior history of SCD or malignant arrhythmias (patients) where compared with 120 healthy individuals (controls). The QRS complexes were extracted with a modified Pan-Tompkins algorithm and processed with the Continuous Wavelet Transform to analyze the high-frequency content (85–130 Hz). Results: Overall, the power of the high-frequency content was higher in patients compared with controls (170.9 vs. 47.3 103nV2Hz−1; p = 0.007), with a prolonged time to reach the maximal power (68.9 vs. 64.8 ms; p = 0.002). An analysis of the signal intensity (instantaneous average of cumulative power), revealed a distinct function between patients and controls. The total intensity was higher in patients compared with controls (137.1 vs. 39 103nV2Hz−1s−1; p = 0.001) and the time to reach the maximal intensity was also prolonged (88.7 vs. 82.1 ms; p < 0.001). Discussion: The high-frequency content of the QRS complexes was distinct between patients at risk of SCD and healthy controls. The wavelet transform is an efficient tool for spectral analysis of the QRS complexes that may contribute to stratification of risk. PMID:29439530

Polymorphism in exon 6 of the human NT5E gene is associated with aortic valve calcification.

PubMed

Kochan, Zdzislaw; Karbowska, Joanna; Gogga, Patrycja; Kutryb-Zajac, Barbara; Slominska, Ewa M; Smolenski, Ryszard T

2016-12-01

NT5E encodes ecto-5'-nucleotidase (e5NT, CD73) which hydrolyses extracellular AMP to adenosine. Adenosine has been shown to play a protective role against aortic valve calcification (AVC). We identified two nonsynonymous missense single nucleotide polymorphisms (c.1126A > G, p.T376A and c.1136T > C, p.M379T) in exon 6 of the human NT5E gene. Since both substitutions might affect e5NT activity and consequently alter extracellular adenosine levels, we evaluated the association between NT5E alleles and calcific aortic valve disease in 119 patients (95 patients with AVC and 24 controls). In AVC patients, the frequency of the G allele at c.1126 and the frequency of the GG genotype as well as the frequency of the C allele at c.1136, and the frequencies of CC and TC genotypes tended to be higher as compared to controls. The allele and genotype frequencies in AVC patients and controls were also compared to those calculated from the 1000 Genomes Project data for control individuals of European ancestry (n = 503). We found that the frequency of the C allele at c.1136 is significantly higher in patients with AVC than in the European controls (0.111 vs. 0.054, P = 0.0052). Moreover, e5NT activity in aortic valves showed a trend toward lower levels in AVC patients with CC and TC genotypes than in those with the TT genotype. Our findings indicate that the genetic polymorphism of NT5E may contribute to the pathogenesis of calcific aortic valve disease and that the C allele of SNP c.1136 is associated with an increased risk of AVC.

Erythrocyte membrane antigen frequencies in patients with Type II congenital smell loss.

PubMed

Stateman, William A; Henkin, Robert I; Knöppel, Alexandra B; Flegel, Willy A

2015-01-01

The objective of this study was to determine whether there are genetic factors associated with Type II congenital smell loss. The expression frequencies of 16 erythrocyte antigens among patients with Type II congenital smell loss were determined and compared to those of a large control group. Blood samples were obtained from 99 patients with Type II congenital smell loss. Presence of the erythrocyte surface antigens A, B, M, N, S, s, Fy(a), Fy(b), D, C, c, E, e, K, Jk(a), and Jk(b) was analyzed by blood group serology. Comparisons of expression frequencies of these antigens were made between the patients and a large control group. Patients tested for the Duffy b antigen (Fy(b) haplotype) exhibited a statistically significant 11% decrease in expression frequency compared to the controls. There were no significant differences between patients and controls in the expression frequencies for all other erythrocyte antigens (A, B, M, N, S, s, Fy(a), D, C, c, E, e, K, Jk(a), or Jk(b)). These findings describe the presence of a previously unrevealed genetic tendency among patients with Type II congenital smell loss related to erythrocyte surface antigen expression. The deviation in expression rate of Duffy b suggests a target gene and chromosome region in which future research into this form of congenital smell loss may reveal a more specific genetic basis for Type II congenital smell loss. Copyright © 2015 Elsevier Inc. All rights reserved.

Calpain-10 gene polymorphisms and risk of type 2 diabetes mellitus in Mexican mestizos.

PubMed

Picos-Cárdenas, V J; Sáinz-González, E; Miliar-García, A; Romero-Zazueta, A; Quintero-Osuna, R; Leal-Ugarte, E; Peralta-Leal, V; Meza-Espinoza, J P

2015-03-27

The calpain-10 gene is expressed primarily in tissues important in glucose metabolism; thus, some of its polymorphisms have been associated with type 2 diabetes. In this study, we examined the association between the calpain-10 single-nucleotide polymorphism (SNP)-43, SNP-19, and SNP-63 and type 2 diabetes in Mexican mestizos. We included 211 patients and 152 non-diabetic subjects. Polymerase chain reaction was used to identify alleles. We compared allele, genotype, haplotype, and diplotype frequencies between both groups and used the chi-square test to calculate the risk. The allele frequency of SNP-43 allele 1 was 70% in controls and 72% in patients; the GG, GA, and AA genotype frequencies were 48.7, 42.8, and 8.5% in controls and 51.2, 41.7, and 7.1% in patients, respectively. For SNP- 19, the prevalence of allele 1 (2R) was 32% in controls and 39% in patients. In controls, homozygosity (2R/2R) was 10.5%, heterozygosity was 42.8%, and 3R/3R was 46.7%; in cases, these values were 13.3, 50.7, and 36.0%, respectively. For SNP-63, the frequency of allele 1 was 87% in controls and 83% in patients; genotype frequencies in controls were 75.7% (CC), 23% (CT), and 1.3% (TT), and were 69.7, 27.5, and 2.8%, respectively for the cases. Genotype distributions were consistent with Hardy-Weinberg equilibrium. No significant intergroup differences for allele, genotype, haplotype, or diplotype frequencies were observed. We found no association between these polymorphisms and diabetes. However, our sample size was small, so the role of calpain-10 risk alleles should be further examined.

Frequency of interleukin 28B rs12979860 C>T variants in Filipino patients chronically infected with hepatitis B virus.

PubMed

Baclig, Michael O; Reyes, Karen G; Mapua, Cynthia A; Gopez-Cervantes, Juliet; Natividad, Filipinas F

2015-03-01

Hepatitis B virus (HBV) is one of the most prevalent viral infections worldwide. Nearly 400 million individuals are chronic carriers of HBV. The aim of the present study was to determine the frequency of human interleukin 28B (IL28B) variants among treatment naive Filipino patients clinically diagnosed with chronic hepatitis B (CHB), and to compare the IL28B frequency distribution with various ethnic populations. Fifty-seven CHB patients and 43 normal controls were enrolled in this study. Real-time PCR was performed using the TaqMan genotyping assay for IL28B rs12979860. The allelic frequencies among normal controls were 0.94 and 0.06 for the IL28B rs12979860 C and T alleles, respectively. Eighty-eight percent were identified as homozygous for the IL28B C/C genotype and 12% were identified as heterozygous for the IL28B C/T genotype. Among CHB patients, the allelic frequencies were 0.90 for the IL28B C allele and 0.10 for the IL28B T allele. No IL28B T/T genotype was observed between the two groups. No significant difference in the distribution of IL28B genotypes was observed between normal controls and CHB patients. Allelic frequencies of IL28B among Filipinos were similar with other Asian populations but significantly different from Caucasians. The frequency of rs12979860 C>T variants among Filipino CHB patients has not yet been reported. These data provided new insight into the geographical frequency distribution of IL28B variants. Further studies are needed to determine the possible association between IL28B variants and response to pegylated-interferon-α plus ribavirin combination therapy among Filipino patients chronically infected with HBV.

Prevalence and predictors of headache in patients referred to polysomnography.

PubMed

Beiske, Kornelia Katalin; Russell, Michael Bjørn; Stavem, Knut

2013-11-18

The objectives of this study were; (1) to assess the prevalence and frequency of headache in patients referred to polysomnography (PSG) due to a clinical suspicion of obstructive sleep apnea (OSA) or another sleep disturbance and compare with a reference population, and (2) to assess the association of OSA severity with headache and headache frequency. A total of 784 participants filled in a headache questionnaire between 2003 and 2009 at the Department of Clinical Neurophysiology, Akershus University Hospital. Of these patients 477 were suspected to have OSA, and 307 had other sleep complaints. We assessed the prevalence of headache and monthly headache frequencies, as well as sleep apnea severity using an apnea-hypopnea index (AHI). The association of headache and monthly headache frequencies with PSG subgroups was assessed using multivariate logistic and ordered logistic regression analysis. The frequency of headache was not associated with the severity of OSA. Patients referred to a sleep study for any reason had higher odds ratio (OR) for having experienced headache during the past year than population controls after adjustment for age, gender and education, i.e. patients with normal AHI had OR of 3.56, patients with OSA had OR of 3.51, and patients with other sleep disturbances had OR of 3.33. Similarly, the adjusted OR of being in a higher category of monthly headache frequency compared to controls was higher in those with normal AHI (OR 3.42), OSA (OR 3.29), and other sleep disturbances (OR 3.00). The odds of headache and headache frequency were higher in subjects referred to a PSG for any sleep disturbance independently of OSA, compared to general population controls. However, there was no association between experiencing headache during the past year or headache frequency with OSA severity.

Prevalence of human papilloma virus infection in patients with male accessory gland infection.

PubMed

La Vignera, S; Vicari, E; Condorelli, R A; Franchina, C; Scalia, G; Morgia, G; Perino, A; Schillaci, R; Calogero, A E

2015-04-01

The frequency of human papillomavirus (HPV) infection in the semen of patients with male accessory gland infection (MAGI) was evaluated. One hundred infertile patients with MAGI were classified into group A: patients with an inflammatory MAGI (n = 48) and group B: patients with a microbial form (n = 52). Healthy age-matched fertile men (34.0 ± 4.0 years) made up the control group (n = 20). Amplification of HPV DNA was carried out by HPV-HS Bio nested polymerase chain reaction for the detection of HPV DNA sequences within the L1 ORF. Ten patients in group A (20.8%) and 15 patients in group B (28.8%) had a HPV infection; two controls (10.0%) had HPV infection. Patients with MAGI had a significantly higher frequency of HPV infection compared with controls; patients with a microbial MAGI had significantly higher frequency of HPV infection compared with patients with an inflammatory form (both P < 0.05). Patients with MAGI and HPV had a slight, but significantly lower sperm progressive motility and normal morphology compared with patients with MAGI HPV-negative (P < 0.05). Elevated frequency of HPV infection occurred in patients with MAGI, suggesting that HPV should be investigated in the diagnostic work-up of these patients. Copyright © 2014 Reproductive Healthcare Ltd. Published by Elsevier Ltd. All rights reserved.

Autonomic functions in acrocyanosis assessed by heart rate variability

PubMed Central

Yılmaz, Sedat; Yokuşoğlu, Mehmet; Çınar, Muhammet; Şimşek, İsmail; Baysan, Oben; Öz, Bilgehan Savaş; Erdem, Hakan; Pay, Salih; Dinç, Ayhan

2014-01-01

Objective To evaluate the autonomic activity of patients with acrocyanosis by using heart rate variability indices. Material and Methods The study group consisted of 24 patients with acrocyanosis and the control group contained 22 sex- and age-matched healthy subjects. All subjects underwent 24-hour Holter monitoring. Among the heart rate variability (HRV) parameters, time-domain and frequency-domain indices were analysed. Results The time-domain indices of HRV indicating global autonomic functions were found to be increased, and indices indicating parasympathetic activity showed a significant decrease in the patient group. Power-spectral analysis of HRV revealed that the low frequency and high frequency power were higher in the patient group than in controls. However, the ratio of Low Frequency/High Frequency was found to be lower in the patient group than in controls. Conclusion In acrocyanosis, both sympathetic and parasympathetic systems seem to be disrupted. Therefore, we may conclude that acrocyanosis may be resulted of systemic autonomic imbalance rather than pure sympathetic over-activation. Also, these results suggest that acrocyanosis is not a localised disorder; on the contrary, it is associated with various abnormalities of the systemic autonomic nervous system. PMID:27708866

Determination of awareness in patients with severe brain injury using EEG power spectral analysis

PubMed Central

Goldfine, Andrew M.; Victor, Jonathan D.; Conte, Mary M.; Bardin, Jonathan C.; Schiff, Nicholas D.

2011-01-01

Objective To determine whether EEG spectral analysis could be used to demonstrate awareness in patients with severe brain injury. Methods We recorded EEG from healthy controls and three patients with severe brain injury, ranging from minimally conscious state (MCS) to locked-in-state (LIS), while they were asked to imagine motor and spatial navigation tasks. We assessed EEG spectral differences from 4 to 24 Hz with univariate comparisons (individual frequencies) and multivariate comparisons (patterns across the frequency range). Results In controls, EEG spectral power differed at multiple frequency bands and channels during performance of both tasks compared to a resting baseline. As patterns of signal change were inconsistent between controls, we defined a positive response in patient subjects as consistent spectral changes across task performances. One patient in MCS and one in LIS showed evidence of motor imagery task performance, though with patterns of spectral change different from the controls. Conclusion EEG power spectral analysis demonstrates evidence for performance of mental imagery tasks in healthy controls and patients with severe brain injury. Significance EEG power spectral analysis can be used as a flexible bedside tool to demonstrate awareness in brain-injured patients who are otherwise unable to communicate. PMID:21514214

Sister chromatid exchange rate and alkaline comet assay scores in patients with ovarian cancer.

PubMed

Baltaci, Volkan; Kayikçioğlu, Fulya; Alpas, Idil; Zeyneloğlu, Hulusi; Haberal, Ali

2002-01-01

Sister chromatid exchange (SCE) frequencies were studied in patients with different types of ovarian malignancies and in healthy volunteers. The level of DNA damage in patients with ovarian malignancy and control subjects has also been studied by alkaline single cell gel electrophoresis (SCGE), also known as the comet assay. Peripheral blood was collected from 30 patients after histological confirmation of malignancy and 20 healthy female volunteers. The cells were evaluated according to their grade of damage. We found that the sister chromatid exchange frequencies of cancer cases were significantly greater than that of controls (P < 0.001). The frequency of exchange in chromosomal groups A, B, and C, which include chromosomes 1-12, was higher than that of the other chromosomal groups in both groups. Comparison of the results of the alkaline comet assay in patient and control subjects showed a significant difference in the number of damaged cells. The frequency of limited migrated and extensive migrated cells in the women with ovarian malignancies was higher than that of control women (P < 0.001). SCE and SCGE can be used successfully to monitor DNA damage in women with ovarian cancer.

Identifying employed multiple sclerosis patients at-risk for job loss: When do negative work events pose a threat?

PubMed

Kordovski, Victoria M; Frndak, Seth E; Fisher, Carrie S; Rodgers, Jonathan; Weinstock-Guttman, Bianca; Benedict, Ralph H B

2015-09-01

Physical disability and cognitive impairment are significant predictors of unemployment in multiple sclerosis (MS). However, little is known about the frequency of work problems in employed patients, in comparison to employed healthy persons. Use an online monitoring tool to compare the frequency of negative work events in MS patients and healthy controls, and determine a threshold at which the frequency of work problems is clinically meaningful. The sample comprised 138 MS patients and 62 healthy controls. All reported on recent negative work events and accommodations using an online survey. The clinical test battery measured depression, motor and cognitive function. Statistical tests compared the frequency of work problems in MS patients and healthy controls. Clinical neuro-performance scales were then assessed in at-risk patients with many work problems, versus those with no work problems. As a group, employed MS patients exhibited deficits in motor ability, verbal memory, and processing speed and were more likely than controls to report negative work events and accommodations. At-risk patients, that is, those reporting more than one negative work event, had more pronounced motor and cognitive deficits than their relatively stable counterparts. The data show that employed MS patients report more negative work events and accommodations than employed healthy persons. Those patients deemed at risk for job loss have more cognitive and motor impairment, suggesting the need for cognitive training and specific accommodation strategies in the work place. Copyright © 2015 Elsevier B.V. All rights reserved.

Evaluation of cochlear involvement by distortion product otoacoustic emission in Behçet's disease.

PubMed

Dagli, Muharrem; Eryilmaz, Adil; Tanrikulu, Salih; Aydin, Acar; Gonul, Muzeyyen; Gul, Ulker; Gocer, Celil

2008-09-01

The aim of this study was to investigate cochlear involvement in patients with Behçet's disease. Twenty-six Behçet's disease patients (52 ears) and 24 sex and age-matched healthy control subjects (48 ears) were included in the study. Pure-tone audiometry at frequencies 250, 500, 1000, 2000, 4000, 6000 Hz, immittance measures including tympanometry and acoustic reflex testing and DPOAE (distortion product otoacoustic emission) testing were performed in the patients and controls. A sensorineural hearing loss was found in eight patients (30.7%) as it was bilateral in five and unilateral in three patients. Although no typical audiometric configuration was found, one patient had a flat type audiogram, and the others had a high frequency hearing loss. The DPOAE responses of the patients and controls were significantly different in all frequencies (p<0.05). These results indicate that cochlea is affected by damage of outer hair cells in Behçet's disease.

Effects of pneumonia and malnutrition on the frequency of micronuclei in peripheral blood of pediatric patients

PubMed Central

Elsayh, Khalid I; Sayed, Douaa M; Zahran, Asmaa M; Saad, Khaled; Badr, Gamal

2013-01-01

The aim of this study was to evaluate the effects of bacterial pneumonia and malnutrition on the frequency of micronuclei (MN) in peripheral blood of pediatric patients through flow cytometric analysis. The study was an analytical case-control study carried out on 35 malnourished children with bacterial pneumonia and 20 well-nourished children with bacterial pneumonia, in addition to 20 healthy children as controls. Complete physical examination including; anthropometric measurement, Chest roentgenograms were done for all cases. Assessment of MN was done by FACSCalibur flow cytometry. The frequency of micronucleated reticulocytes (MN-RETs) was higher both in the malnourished children with pneumonia and well-nourished children with pneumonia than the controls. Within the malnourished children with pneumonia, patients with kwashiorkor had more micronucleated mature erythrocytes (MN-RBCs) and MN-RETs than patients with marasmus. In conclusion: Pneumonia is associated with an increased frequency of MN and this increment is more pronounced in children with severe malnutrition especially kwashiorkor group. PMID:24260601

[Hypertension Control at the Primary Health Care: A Comparison Among Portuguese Natives and Portuguese Speaking African Coutries Immigrants].

PubMed

Lopes, Elisa; Alarcão, Violeta; Simões, Rui; Fernandes, Milene; Gómez, Verónica; Souto, Diana; Nogueira, Paulo; J Nicola, Paulo J; Rocha, Evangelista

2016-03-01

In Portugal, the frequency of patient with treated and controlled hypertension is low. It is unknown the relation of socio-economic determinants with hypertension control, particularly in African immigrants. To compare frequency of control in treated hypertension and to identify characteristics associated with uncontrolled and treated hypertension between Portuguese natives (Caucasian) and Portuguese Speaking African Coutries immigrants (black). Cross-sectional study of patients with treated hypertension, 40-80 years old, randomized from Primary Health Care of Lisbon Region. We collected sociodemographic, clinical and health care data through structured interviews. We compared the frequency of patients with uncontrolled hypertension, and identified related factors through univariate and multivariate analysis. In this study participated 786 patients with treated hypertension (participation rate: 71%): 449 natives and 337 immigrants. Of these, 46% had controlled hypertension. Diastolic blood pressure was higher in younger immigrants. Were associated with no control, in natives, male sex, low education, going to emergency and / or nursing services and not looking for the family doctor; on immigrants, being single, using the pharmacist, the number of years of illness and intentional non-adherence. Treated hypertension control has been increasing for last years. Natives and immigrants differ, regarding blood pressure control, relatively to the frequency of family doctor consultation, and resorting to other services and health professionals. These differences didn't reflect in statistically different control rates. It is needed to define strategies to control hypertension in primary health care specific for ethnic groups.

Heart rate variability is differentially altered in multiple sclerosis: implications for acute, worsening and progressive disability.

PubMed

Studer, Valeria; Rocchi, Camilla; Motta, Caterina; Lauretti, Benedetta; Perugini, Jacopo; Brambilla, Laura; Pareja-Gutierrez, Lorena; Camera, Giorgia; Barbieri, Francesca Romana; Marfia, Girolama A; Centonze, Diego; Rossi, Silvia

2017-01-01

Sympathovagal imbalance has been associated with poor prognosis in chronic diseases, but there is conflicting evidence in multiple sclerosis. The objective of this study was to investigate the autonomic nervous system dysfunction correlation with inflammation and progression in multiple sclerosis. Heart rate variability was analysed in 120 multiple sclerosis patients and 60 healthy controls during supine rest and head-up tilt test; the normalised units of low frequency and high frequency power were considered to assess sympathetic and vagal components, respectively. Correlation analyses with clinical and radiological markers of disease activity and progression were performed. Sympathetic dysfunction was closely related to the progression of disability in multiple sclerosis: progressive patients showed altered heart rate variability with respect to healthy controls and relapsing-remitting patients, with higher rest low frequency power and lacking the expected low frequency power increase during the head-up tilt test. In relapsing-remitting patients, disease activity, even subclinical, was associated with lower rest low frequency power, whereas stable relapsing-remitting patients did not differ from healthy controls. Less sympathetic reactivity and higher low frequency power at rest were associated with incomplete recovery from relapse. Autonomic balance appears to be intimately linked with both the inflammatory activity of multiple sclerosis, which is featured by an overall hypoactivity of the sympathetic nervous system, and its compensatory plastic processes, which appear inefficient in case of worsening and progressive multiple sclerosis.

Differential roles of low and high spatial frequency content in abnormal facial emotion perception in schizophrenia.

PubMed

McBain, Ryan; Norton, Daniel; Chen, Yue

2010-09-01

While schizophrenia patients are impaired at facial emotion perception, the role of basic visual processing in this deficit remains relatively unclear. We examined emotion perception when spatial frequency content of facial images was manipulated via high-pass and low-pass filtering. Unlike controls (n=29), patients (n=30) perceived images with low spatial frequencies as more fearful than those without this information, across emotional salience levels. Patients also perceived images with high spatial frequencies as happier. In controls, this effect was found only at low emotional salience. These results indicate that basic visual processing has an amplified modulatory effect on emotion perception in schizophrenia. (c) 2010 Elsevier B.V. All rights reserved.

Binocular rivalry after right-hemisphere stroke: Effects of attention impairment on perceptual dominance patterns.

PubMed

Walle, Kjersti Mæhlum; Kyler, Hillary Lynn; Nordvik, Jan Egil; Becker, Frank; Laeng, Bruno

2017-10-01

Binocular rivalry is when perception fluctuates while the stimuli, consisting of different images presented to each eye, remain unchanged. The fluctuation rate and predominance ratio of these images are regarded as information source for understanding properties of consciousness and perception. We administered a binocular rivalry task to 26 right-hemisphere stroke patients and 26 healthy control participants, using stimuli such as simple Gabor anaglyphs. Each single Gabor image was of unequal spatial frequency compared to its counterpart, allowing assessment of the effect of relative spatial frequency on rivalry predominance. Results revealed that patients had significantly decreased alternation rate compared to healthy controls, with severity of patients' attention impairment predicting alternation rates. The patient group had higher predominance ratio for high compared to low relative spatial frequency stimuli consistent with the hypothesis that damage to the right hemisphere may disrupt processing of relatively low spatial frequencies. Degree of attention impairment also predicted the effect of relative spatial frequencies. Lastly, both groups showed increased predominance rates in the right eye compared to the left eye. This right eye dominance was more pronounced in patients than controls, suggesting that right hemisphere stroke may additionally affect eye predominance ratios. Copyright © 2017 Elsevier Inc. All rights reserved.

The G allele in IL-10-1082 G/A may have a role in lowering the susceptibility to panic disorder in female patients.

PubMed

Kim, Han-Joon; Kim, Yong-Ku

2016-12-01

Immune system activation is involved in the pathophysiology of panic disorder (PD). We investigated INF-γ+874 A/T, TNF-α-308 G/A, and IL-10-1082 G/A single nucleotide polymorphisms (SNPs) to determine their association with PD. This study enroled 135 PD patients and 135 healthy controls. INF-γ+874 A/T (rs2430561), TNF-α-308 G/A (rs1800629), and IL-10-1082 G/A (rs1800896) were genotyped. There were no differences in genotypes or allele frequencies between the patient and control groups, regardless of accompanying agoraphobia. However, for female patients, the G allele frequency in IL-10 SNP was higher in the control group than in the patient group. Additionally, the female control group had a higher frequency of the A/G and G/G genotype in the IL-10 SNP than the female patient group. We suggest that the G allele in IL-10-1082 G/A might have a role in reducing the manifestations of PD in female patients. Further studies are needed to extend and confirm our findings.

The association between periodontal disease and seizure severity in refractory epilepsy patients.

PubMed

Costa, Andre L F; Yasuda, Clarissa Lin; Shibasaki, Wendel; Nahás-Scocate, Ana Carla Raphaelli; de Freitas, Claudio Fróes; Carvalho, Paulo Eduardo Guedes; Cendes, Fernando

2014-03-01

Periodontal diseases are common in most populations and affect people at all socioeconomic levels. Evidence suggests that patients with epilepsy actually have higher risks of dental disease and increased oral health needs, but the frequency and consequences of poor controlled seizures on dental and periodontal health have not been reported before. We aimed to assess the impact of seizure frequency on periodontal status and oral hygiene in a sample of epilepsy patients. One hundred and nine consecutive patients treated for epilepsy at the outpatient clinic of our University Hospital were invited to take part in an oral examination to determine their periodontal disease status, together with a control group. In addition, seizure frequency and use of medication were documented. In logistic regression model, patients were significantly more susceptible to bad oral hygiene, gingivitis and periodontitis that controls (p<0.001); seizure frequency was significantly related to bad oral hygiene (p=0.010), gingivitis (p<0.001) and periodontitis (p<0.001). Tooth brushing habits and presence of caries were associated with oral health in patients group. Our study found a significant positive correlation between periodontal disease and seizure severity. Epilepsy patients need to focus more on their oral health and quality of oral hygiene. Copyright © 2013 British Epilepsy Association. Published by Elsevier Ltd. All rights reserved.

Visual information processing of faces in body dysmorphic disorder.

PubMed

Feusner, Jamie D; Townsend, Jennifer; Bystritsky, Alexander; Bookheimer, Susan

2007-12-01

Body dysmorphic disorder (BDD) is a severe psychiatric condition in which individuals are preoccupied with perceived appearance defects. Clinical observation suggests that patients with BDD focus on details of their appearance at the expense of configural elements. This study examines abnormalities in visual information processing in BDD that may underlie clinical symptoms. To determine whether patients with BDD have abnormal patterns of brain activation when visually processing others' faces with high, low, or normal spatial frequency information. Case-control study. University hospital. Twelve right-handed, medication-free subjects with BDD and 13 control subjects matched by age, sex, and educational achievement. Intervention Functional magnetic resonance imaging while performing matching tasks of face stimuli. Stimuli were neutral-expression photographs of others' faces that were unaltered, altered to include only high spatial frequency visual information, or altered to include only low spatial frequency visual information. Blood oxygen level-dependent functional magnetic resonance imaging signal changes in the BDD and control groups during tasks with each stimulus type. Subjects with BDD showed greater left hemisphere activity relative to controls, particularly in lateral prefrontal cortex and lateral temporal lobe regions for all face tasks (and dorsal anterior cingulate activity for the low spatial frequency task). Controls recruited left-sided prefrontal and dorsal anterior cingulate activity only for the high spatial frequency task. Subjects with BDD demonstrate fundamental differences from controls in visually processing others' faces. The predominance of left-sided activity for low spatial frequency and normal faces suggests detail encoding and analysis rather than holistic processing, a pattern evident in controls only for high spatial frequency faces. These abnormalities may be associated with apparent perceptual distortions in patients with BDD. The fact that these findings occurred while subjects viewed others' faces suggests differences in visual processing beyond distortions of their own appearance.

Analysis of HLA in children with gelatin allergy.

PubMed

Sakaguchi, M; Nakayama, T; Kaku, H; Taniguchi, K; Saito, S; Kimura, A; Inouye, S

2002-05-01

Systemic immediate reactions including anaphylaxis to gelatin in vaccines have been reported. However, the number of such reports is very small compared with the number of children exposed to gelatin. The present study was designed to investigate whether susceptibility or resistance to gelatin allergy is associated with human leukocyte antigen (HLA) class II gene. Blood samples were obtained from 49 patients with gelatin allergy and specific IgE to gelatin. DNA-based HLA class II typing was performed to determine the DRB1, DQB1 and DPB1 alleles. Genotype frequencies were compared with those found in 240 unrelated controls. The frequency of DQB1*0303 (55.1%) was significantly higher in the patients than in the control subjects (32.1%). The frequency of DPB1*0402 was also significantly higher in the patients (32.7%) than in the control subjects (15.4%). On the other hand, the frequency of subjects carrying DRB1*15 (DRB1*1501 and DRB1*1502) was significantly lower among the patients group (18.4%) than among the controls (40.8%). We found that DQB1*0303 and DPB1*0402 were positively associated with the IgE response for gelatin, while DRB1*15 was negatively associated with it.

HLA-DRB1 Alleles as Genetic Risk Factors for the Development of Anti-MDA5 Antibodies in Patients with Dermatomyositis.

PubMed

Chen, Zhiyong; Wang, Yan; Kuwana, Masataka; Xu, Xue; Hu, Wei; Feng, Xuebing; Wang, Hong; Kimura, Akinori; Sun, Lingyun

2017-09-01

Patients with polymyositis/dermatomyositis (PM/DM) who express anti-melanoma differentiation associated protein 5 (anti-MDA5) antibodies frequently present with interstitial lung disease (ILD). The aim of this study was to investigate the association of HLA-DRB1 with anti-MDA5 expression in PM/DM. The frequency of DRB1 alleles was compared among 70 patients with PM, 104 patients with DM, and 400 healthy controls in a Han Chinese population. Frequencies of DRB1*04:01 [17.0% vs 1.3%, corrected p value (p c ) = 3.8 × 10 -8 , OR 16.2, 95% CI 6.6-39.7] and *12:02 (42.6% vs 19.3%, p c = 0.008, OR 3.1, 95% CI 1.7-5.7) were significantly higher in anti-MDA5-positive patients with PM/DM compared with the controls. The frequencies of DRB1*04:01 (p = 5.2 × 10 -6 , OR 17.1, 95% CI 5.3-54.9) and *12:02 (p = 3.8 × 10 -4 , OR 3.1, 95% CI 1.7-5.7) in anti-MDA5-positive patients with DM-ILD were higher than in the controls, whereas the frequencies of DRB1*04:01 and *12:02 did not differ between the anti-MDA5-negative patients with DM-ILD and controls. No difference in the frequency of DRB1 alleles, other than *04:01, carrying the "shared epitope" (SE), i.e., *01:01, *01:02, *04:05, and *10:01, was observed between the controls and patients with DM stratified by the presence of anti-MDA5 and ILD. DRB1*04:01 and *12:02 confer susceptibility to anti-MDA5 antibody production in DM, which cannot be explained by the SE hypothesis.

Impact of I/D polymorphism of angiotensin-converting enzyme (ACE) gene on myocardial infarction susceptibility among young Moroccan patients.

PubMed

Hmimech, Wiam; Idrissi, Hind Hassani; Diakite, Brehima; Korchi, Farah; Baghdadi, Dalila; Tahri Joutey Hassani Idrissi, Hind; Haboub, Meriem; Habbal, Rachida; Nadifi, Sellama

2017-12-21

Our case-control study aimed to access the potential association of insertion/deletion (I/D) ACE (angiotensin converting enzyme) gene polymorphism with myocardial infarction (MI) risk of occurrence among a sample of Moroccan patients, especially young ones. Distribution of I/D ACE gene variant among cases vs controls, showed that healthy controls carried out higher frequency of wild type allele I compared to cases (23.5% vs 21.79% respectively), when cases were carrying higher frequency of mutant allele D (78.21% vs 76.5% for controls). Patients were-after this- divided into two groups of < 45 and > 55 years of age, to investigate whether or not younger patients carried out higher frequency of the mutant allele D, than older ones. As expected, < 45 years old patients carried out more DD genotype than older ones (68.9% vs 54.6% respectively), and higher frequency of mutant allele D (81.08% vs 75% respectively). Besides, a tendency to a positive association was found under the recessive genetic transmission model (OR [95% CI] = 1.85 [0.93-3.69], P = 0.08), suggesting that the I/D ACE polymorphism may be associated with MI occurrence among younger patients (< 45 years of age).

On the analysis of EEG power, frequency and asymmetry in Parkinson's disease during emotion processing.

PubMed

Yuvaraj, Rajamanickam; Murugappan, Murugappan; Mohamed Ibrahim, Norlinah; Iqbal, Mohd; Sundaraj, Kenneth; Mohamad, Khairiyah; Palaniappan, Ramaswamy; Mesquita, Edgar; Satiyan, Marimuthu

2014-04-09

While Parkinson's disease (PD) has traditionally been described as a movement disorder, there is growing evidence of disruption in emotion information processing associated with the disease. The aim of this study was to investigate whether there are specific electroencephalographic (EEG) characteristics that discriminate PD patients and normal controls during emotion information processing. EEG recordings from 14 scalp sites were collected from 20 PD patients and 30 age-matched normal controls. Multimodal (audio-visual) stimuli were presented to evoke specific targeted emotional states such as happiness, sadness, fear, anger, surprise and disgust. Absolute and relative power, frequency and asymmetry measures derived from spectrally analyzed EEGs were subjected to repeated ANOVA measures for group comparisons as well as to discriminate function analysis to examine their utility as classification indices. In addition, subjective ratings were obtained for the used emotional stimuli. Behaviorally, PD patients showed no impairments in emotion recognition as measured by subjective ratings. Compared with normal controls, PD patients evidenced smaller overall relative delta, theta, alpha and beta power, and at bilateral anterior regions smaller absolute theta, alpha, and beta power and higher mean total spectrum frequency across different emotional states. Inter-hemispheric theta, alpha, and beta power asymmetry index differences were noted, with controls exhibiting greater right than left hemisphere activation. Whereas intra-hemispheric alpha power asymmetry reduction was exhibited in patients bilaterally at all regions. Discriminant analysis correctly classified 95.0% of the patients and controls during emotional stimuli. These distributed spectral powers in different frequency bands might provide meaningful information about emotional processing in PD patients.

Inner ear involvement in Behçet's disease.

PubMed

Süslü, Ahmet Emre; Polat, Mualla; Köybaşi, Serap; Biçer, Yusuf Ozgür; Funda, Yasemin Ongun; Parlak, Ali Haydar

2010-06-01

To assess cochlear involvement and hearing loss in patients with Behçet's disease (BD). Forty-two patients with BD and 24 sex and age matched healthy subjects were included in the study. pure-tone audiometry including high frequencies (250-16000Hz) and DPOAE were performed to all participants. Results of the audiological evaluation were compared and correlation between the audiologic status and clinical manifestations of the BD were investigated. Bilateral sensorineural hearing loss was detected in 27 (64.3%) patients. Hearing thresholds were found to be higher in patients with BD at all of the frequencies except at 500Hz when compared to control group (p<0.05). The difference in the hearing levels tend to increase in high frequencies. Compared with control group, distortion products and SNR of the BD patients were lower in all of the tested frequencies (p<0.05) which indicates weaker outer hair cell motility. There was no correlation between the clinical manifestations and the audiological parameters. Even having hearing levels within normal limits in speech frequencies, increased hearing thresholds in high frequencies and decreased signal-noise ratios (SNR) in distortion product otoacoustic emission (DPOAE) indicate a cochlear involvement in patients with BD. Copyright (c) 2009 Elsevier Ireland Ltd. All rights reserved.

Association between lower frequency of R381Q variant (rs11209026) in IL-23 receptor gene and increased risk of recurrent spontaneous abortion (RSA).

PubMed

Abdollahi, Elham; Tavasolian, Fataneh; Ghasemi, Nasrin; Mirghanizadeh, Seyed Ali; Azizi, Mohammdareza; Ghoryani, Mohsen; Samadi, Morteza

2015-01-01

Recurrent spontaneous abortion (RSA) is defined as three or more consecutive spontaneous abortions before the 20th week of gestation. The purpose of the present study was to investigate the association between a functional single nucleotide polymorphism (SNP) in the interleukin (IL)-23 receptor gene (IL-23R; rs11209026, 1142 G wild type → A reduced function, Arg381Gln, R381Q) and RSA. For the study, 200 RSA patients (confirmed using established diagnostic criteria) and 200 normal individuals in fertility and infertility centers in the cities of Yazd and Isfahan were recruited during a period from 2012-2013. Using PCR-RFLP, the R381Q variant was screened for in the IL-23R gene of the patients and controls. The results indicated there were significant differences in the frequency of this genetic variant in the patients versus the healthy controls, i.e. 2% and 7.5%, respectively (p value = 0.01; odds ratio = 0.25; CI = 95%). No significant difference was found for the G allelic frequency in patients with RSA and in the control group (p = 0.60). The A allelic frequency was significantly different between the two groups (p = 0.01). Based on these findings, it is concluded that the frequency of single nucleotide polymorphism in the IL-23 receptor (R381Q) in patients with recurrent spontaneous abortion (RSA) is less than that found in normal control women.

How do schizophrenia patients use visual information to decode facial emotion?

PubMed

Lee, Junghee; Gosselin, Frédéric; Wynn, Jonathan K; Green, Michael F

2011-09-01

Impairment in recognizing facial emotions is a prominent feature of schizophrenia patients, but the underlying mechanism of this impairment remains unclear. This study investigated the specific aspects of visual information that are critical for schizophrenia patients to recognize emotional expression. Using the Bubbles technique, we probed the use of visual information during a facial emotion discrimination task (fear vs. happy) in 21 schizophrenia patients and 17 healthy controls. Visual information was sampled through randomly located Gaussian apertures (or "bubbles") at 5 spatial frequency scales. Online calibration of the amount of face exposed through bubbles was used to ensure 75% overall accuracy for each subject. Least-square multiple linear regression analyses between sampled information and accuracy were performed to identify critical visual information that was used to identify emotional expression. To accurately identify emotional expression, schizophrenia patients required more exposure of facial areas (i.e., more bubbles) compared with healthy controls. To identify fearful faces, schizophrenia patients relied less on bilateral eye regions at high-spatial frequency compared with healthy controls. For identification of happy faces, schizophrenia patients relied on the mouth and eye regions; healthy controls did not utilize eyes and used the mouth much less than patients did. Schizophrenia patients needed more facial information to recognize emotional expression of faces. In addition, patients differed from controls in their use of high-spatial frequency information from eye regions to identify fearful faces. This study provides direct evidence that schizophrenia patients employ an atypical strategy of using visual information to recognize emotional faces.

Resting and Activated Natural Tregs Decrease in the Peripheral Blood of Patients with Atherosclerosis.

PubMed

Yazdani, Mohammadreza; Khosropanah, Shahdad; Hosseini, Ahmad; Doroudchi, Mehrnoosh

2016-12-01

Atherosclerosis is a chronic inflammatory disease affecting large and medium arteries. CD4+ T cells are known to play a role in the progression of the disease. CD4+CD25+Foxp3+ natural Treg (nTreg) cells seem to have a protective role in the disease and their reduction in acute coronary syndrome is recently shown. To investigate the frequency of nTreg subsets in the peripheral blood of patients with atherosclerosis. Confirmation of atherosclerosis was done by angiography and 15 ml heparinized blood was obtained from each of the 13 non-diabetic patients and 13 non-diabetic, non-smoker individuals with normal/insignificant coronary artery disease confirmed by angiography. Lipid profiles of the patients and controls were measured at the time of sampling. Mononuclear cells were used for both RNA extraction and immunophenotyping by real-time PCR and flowcytometry techniques, respectively. In natural Treg subsets, the frequency of CD4+CD45RO-CD25+Foxp3lo T-cells (resting nTregs) was greater in controls than patients (p=0.02). The frequency of CD4+CD45RO+CD25hiFoxp3hi T-cells (activated nTregs) was significantly higher in controls compared with patients (p=0.02). However, the frequency of CD4+CD25+CD45RO+Foxp3- T-cells (effector/memory T-cell) increased in patients compared with controls (p=0.01). Both the MFI and gene expression of Foxp3 were higher in control group than in patients (p=0.015 and p=0.017, respectively). Moreover, the TGF-β gene expression showed a decrease in the peripheral blood mononuclear cells of patients compared with controls (p=0.03). Decrease in both subsets of resting and activated nTregs along with a decrease in the expression of Foxp3 and TGF-β genes in patients with atherosclerosis suggests phenotypic changes in these subsets, which may as well be correlated with a more inflammatory profile in their lymphocytes.

Word processing during reading sentences in patients with schizophrenia: evidences from the eyetracking technique.

PubMed

Fernández, Gerardo; Sapognikoff, Marcelo; Guinjoan, Salvador; Orozco, David; Agamennoni, Osvaldo

2016-07-01

The current study analyze the effect of word properties (i.e., word length, word frequency and word predictability) on the eye movement behavior of patients with schizophrenia (SZ) compared to age-matched controls. 18 SZ patients and 40 age matched controls participated in the study. Eye movements were recorded during reading regular sentences by using the eyetracking technique. Eye movement analyses were performed using linear mixed models. Analysis of eye movements revealed that patients with SZ decreased the amount of single fixations, increased their total number of second pass fixations compared with healthy individuals (Controls). In addition, SZ patients showed an increase in gaze duration, compared to Controls. Interestingly, the effects of current word frequency and current word length processing were similar in Controls and SZ patients. The high rate of second pass fixations and its low rate in single fixation might reveal impairments in working memory when integrating neighbor words. In contrast, word frequency and length processing might require less complex mechanisms, which were functioning in SZ patients. To the best of our knowledge, this is the first study measuring how patients with SZ process dynamically well-defined words embedded in regular sentences. The findings suggest that evaluation of the resulting changes in eye movement behavior may supplement current symptom-based diagnosis. Copyright © 2016 Elsevier Inc. All rights reserved.

Decreased human leukocyte antigen A*02:01 frequency is associated with risk of glioma and existence of human cytomegalovirus: a case-control study in Northern China.

PubMed

Han, Sheng; Deng, Jian; Wang, Zixun; Liu, Huan; Cheng, Wen; Wu, Anhua

2017-10-01

Human leukocyte antigens (HLAs) play an important role in host defense against viral infection and tumorigenesis. Human cytomegalovirus (HCMV) has been linked to glioma development. This study investigated the relationship between HLA distribution, presence of HCMV, and glioma development in a Han Chinese population. The study population included 150 glioma patients and 150 tumor-free brain injury control subjects (control-A) matched according to geography, ethnicity, age, and gender. HLA allele frequency was compared between the two groups using peripheral blood samples by PCR sequence-based typing. These data were also compared with HLA frequencies obtained from a Northern Chinese Han population database (control-B). HCMV DNA was detected in the peripheral blood of glioma patients and control group-A by nested PCR. The expression of HCMV proteins IE1-72 and pp65 in tumor tissues was evaluated by immunohistochemistry. The frequency of HLA-A*02:01 was decreased in glioma patients as compared to control group-A and -B (P < 0.001 and P = 0.001, respectively). The age/sex-adjusted odds ratio for HLA-A*02:01 positivity vs. negativity was 0.392 (95% confidence interval 0.225-0.683). HCMV was more frequently detected in the peripheral blood and tumor tissue of HLA-A*02:01-negative glioma patients. HLA-A*02:01 and HCMV were not associated with overall survival. There is a correlation between decreased HLA-A*0201 allele frequency and glioma susceptibility.

Exercise training improves autonomic profiles in patients with Charcot-Marie-Tooth disease.

PubMed

El Mhandi, Lhassan; Pichot, Vincent; Calmels, Paul; Gautheron, Vincent; Roche, Frédéric; Féasson, Léonard

2011-11-01

The effect of an interval exercise training (ITE) program on heart rate variability (HRV) was studied in 8 patients with Charcot-Marie-Tooth (CMT) disease and 8 healthy controls. At baseline, all subjects underwent ambulatory 24-hour Holter electrocardiographic (ECG) monitoring to evaluate HRV. HRV analysis was repeated on CMT patients after they completed a 24-week ITE program on a cycle ergometer. Before exercise, all HRV indices were lower in patients compared with controls, and the difference reached statistical significance for pNN50 (percent of differences between adjacent R-R intervals exceeding 50 ms). After ITE, time- and frequency-domain indices were significantly improved, particularly at night (+8% mean R-R interval, +95% pNN50, 52% reduction in low/high-frequency ratio). We observed significant increases in some of the time and frequency parameters, and values sometimes exceeded those of controls at baseline. Our results suggest that ITE improves HRV modulation in CMT patients by enhancing parasympathetic activity. Copyright © 2011 Wiley Periodicals, Inc.

Effects of long-term exercise training on autonomic control in myocardial infarction patients.

PubMed

Martinez, Daniel G; Nicolau, José C; Lage, Rony L; Toschi-Dias, Edgar; de Matos, Luciana D N J; Alves, Maria Janieire N N; Trombetta, Ivani C; Dias da Silva, Valdo J; Middlekauff, Holly R; Negrão, Carlos E; Rondon, Maria U P B

2011-12-01

Autonomic dysfunction, including baroreceptor attenuation and sympathetic activation, has been reported in patients with myocardial infarction (MI) and has been associated with increased mortality. We tested the hypotheses that exercise training (ET) in post-MI patients would normalize arterial baroreflex sensitivity (BRS) and muscle sympathetic nerve activity (MSNA), and long-term ET would maintain the benefits in BRS and MSNA. Twenty-eight patients after 1 month of uncomplicated MI were randomly assigned to 2 groups, ET (MI-ET) and untrained. A normal control group was also studied. ET consisted of three 60-minute exercise sessions per week for 6 months. We evaluated MSNA (microneurography), blood pressure (automatic oscillometric method), heart rate (ECG), and spectral analysis of RR interval, systolic arterial pressure (SAP), and MSNA. Baroreflex gain of SAP-RR interval and SAP-MSNA were calculated using the α-index. At 3 to 5 days and 1 month after MI, MSNA and low-frequency SAP were significantly higher and BRS significantly lower in MI patients when compared with the normal control group. ET significantly decreased MSNA (bursts per 100 heartbeats) and the low-frequency component of SAP and significantly increased the low-frequency component of MSNA and BRS of the RR interval and MSNA. These changes were so marked that the differences between patients with MI and the normal control group were no longer observed after ET. MSNA and BRS in the MI-untrained group did not change from baseline over the same time period. ET normalizes BRS, low-frequency SAP, and MSNA in patients with MI. These improvements in autonomic control are maintained by long-term ET. These findings highlight the clinical importance of this nonpharmacological therapy based on ET in the long-term treatment of patients with MI.

Mutation frequencies of the cytochrome CYP2D6 gene in Parkinson disease patients and in families

DOE Office of Scientific and Technical Information (OSTI.GOV)

Lucotte, G.; Turpin, J.C.; Gerard, N.

1996-07-26

The frequencies of five mutations of the debrisoquine 4-hydroxylase (CYP2D6) gene (mutations D6-A, B, C, D, and T), corresponding to poor metabolizer (PM) phenotypes, were determined by restriction fragment length polymorphism (RFLP) and polymerase chain reaction (PCR) in 47 patients with Parkinson disease, and compared with the findings in 47 healthy controls. These mutant alleles were about twice as frequent among patients as in controls, with an approximate relative risk ratio of 2.12 (95% confidence interval, 1.41-2.62). There seem to be no significant differences in frequencies of mutant genotypes in patients among gender and modalities of response with levodopa therapy;more » but frequency of the mutations was slightly enhanced after age-at-onset of 60 years. Mutations D6-B, D, and T were detected in 7 patients belonging to 10 Parkinson pedigrees. 25 refs., 1 fig., 2 tabs.« less

Remembering 'zeal' but not 'thing': reverse frequency effects as a consequence of deregulated semantic processing.

PubMed

Hoffman, Paul; Jefferies, Elizabeth; Ralph, Matthew A Lambon

2011-02-01

More efficient processing of high frequency (HF) words is a ubiquitous finding in healthy individuals, yet frequency effects are often small or absent in stroke aphasia. We propose that some patients fail to show the expected frequency effect because processing of HF words places strong demands on semantic control and regulation processes, counteracting the usual effect. This may occur because HF words appear in a wide range of linguistic contexts, each associated with distinct semantic information. This theory predicts that in extreme circumstances, patients with impaired semantic control should show an outright reversal of the normal frequency effect. To test this prediction, we tested two patients with impaired semantic control with a delayed repetition task that emphasised activation of semantic representations. By alternating HF and low frequency (LF) trials, we demonstrated a significant repetition advantage for LF words, principally because of perseverative errors in which patients produced the previous LF response in place of the HF target. These errors indicated that HF words were more weakly activated than LF words. We suggest that when presented with no contextual information, patients generate a weak and unstable pattern of semantic activation for HF words because information relating to many possible contexts and interpretations is activated. In contrast, LF words are associated with more stable patterns of activation because similar semantic information is activated whenever they are encountered. Copyright © 2011 Elsevier Ltd. All rights reserved.

A high incidence of Staphylococcus aureus colonization in the external eyes of patients with atopic dermatitis.

PubMed

Nakata, K; Inoue, Y; Harada, J; Maeda, N; Watanabe, H; Tano, Y; Shimomura, Y; Harino, S; Sawa, M

2000-12-01

To determine the frequency distribution of bacteria on the external surface of eyes of patients with atopic dermatitis (AD) and to investigate the relationship between the frequency of bacterial colonization and the grade of atopy or ocular diseases associated with AD. Comparative cross-sectional study. Thirty-six AD patients (mean age, 24.5 years) and 16 nonatopic, age-matched control participants (mean age, 25.5 years). The eyelid margins and conjunctival sacs were scraped with sterile swabs. These samples were inoculated into aerobic and anaerobic culture media. The frequency distribution of bacteria isolated from the eyelid margins and conjunctival sacs. Bacteria isolated from AD patients were: Staphylococcus aureus in 21 of 36 patients (including methicillin-resistant Staphylococcus aureus in two patients); Staphylococcus epidermidis in two patients (including methicillin-resistant Staphylococcus epidermidis in one patient); other coagulase-negative Staphylococcus in six patients;alpha-streptococcus in three patients; Corynebacterium species in three patients; Neisseria species in two patients; and Propionibacterium acnes in one patient. From the nonatopic control participants, we isolated S. aureus in one patient, S. epidermidis in two patients and alpha-streptococcus in one patient. S. aureus was isolated from 67% of the AD patients, and any type of bacteria was isolated from 86% of the patients. These rates were significantly higher than those of nonatopic control participants (6% S. aureus and 25% any bacteria). There was no significant relationship between the frequency distribution of bacteria and the grade of atopy or associated ocular diseases. High rates of bacterial colonization, especially S. aureus, were found in the conjunctival sacs and eyelid margins of AD patients. In case management of AD patients, this unique distribution of bacteria must be carefully considered.

Decreased mutation frequencies among immunoglobulin G variable region genes during viremic HIV-1 infection.

PubMed

Bowers, Elisabeth; Scamurra, Ronald W; Asrani, Anil; Beniguel, Lydie; MaWhinney, Samantha; Keays, Kathryne M; Thurn, Joseph R; Janoff, Edward N

2014-01-01

HIV-1 infection is complicated by high rates of opportunistic infections against which specific antibodies contribute to immune defense. Antibody function depends on somatic hypermutation (SHM) of variable regions of immunoglobulin heavy chain genes (VH-D-J). We characterized the frequency of SHM in expressed IgG mRNA immunoglobulin transcripts from control and HIV-1-infected patients. We compared utilization of genes in the most prominent VH family (VH3) and mutation frequencies and patterns of cDNA from VH3-IgG genes from 10 seronegative control subjects and 21 patients with HIV-1 infection (6 without and 15 patients with detectable plasma viremia). Unique IgG VH3 family cDNA sequences (n = 1,565) were PCR amplified, cloned, and sequenced from blood. Sequences were analyzed using online (Vbase) and in-house immunoglobulin alignment resources. Mutation frequencies in the antigen-binding hypervariable complementarity determining regions (CDR1/2) of IgG class-switched B cells were lower among viremic HIV-1-infected patients vs. controls for nucleotides (CDR1/2: 10±5% vs. 13.5±6%, p = 0.03) and amino acids (CDR: 20%±10 vs. 25%±12, p = 0.02) and in structural framework regions. Mutation patterns were similar among groups. The most common VH3 gene, VH3-23, was utilized less frequently among viremic HIV-1-infected patients (p = 0.03), and overall, mutation frequencies were decreased in nearly all VH3 genes compared with controls. B cells from HIV-1-infected patients show decreased mutation frequencies, especially in antigen-binding VH3 CDR genes, and selective defects in gene utilization. Similar mutation patterns suggest defects in the quantity, but not quality, of mutator activity. Lower levels of SHM in IgG class-switched B cells from HIV-1-infected patients may contribute to the increased risk of opportunistic infections and impaired humoral responses to preventative vaccines.

Slow sleep spindle and procedural memory consolidation in patients with major depressive disorder.

PubMed

Nishida, Masaki; Nakashima, Yusaku; Nishikawa, Toru

2016-01-01

Evidence has accumulated, which indicates that, in healthy individuals, sleep enhances procedural memory consolidation, and that sleep spindle activity modulates this process. However, whether sleep-dependent procedural memory consolidation occurs in patients medicated for major depressive disorder remains unclear, as are the pharmacological and physiological mechanisms that underlie this process. Healthy control participants (n=17) and patients medicated for major depressive disorder (n=11) were recruited and subjected to a finger-tapping motor sequence test (MST; nondominant hand) paradigm to compare the averaged scores of different learning phases (presleep, postsleep, and overnight improvement). Participants' brain activity was recorded during sleep with 16 electroencephalography channels (between MSTs). Sleep scoring and frequency analyses were performed on the electroencephalography data. Additionally, we evaluated sleep spindle activity, which divided the spindles into fast-frequency spindle activity (12.5-16 Hz) and slow-frequency spindle activity (10.5-12.5 Hz). Sleep-dependent motor memory consolidation in patients with depression was impaired in comparison with that in control participants. In patients with depression, age correlated negatively with overnight improvement. The duration of slow-wave sleep correlated with the magnitude of motor memory consolidation in patients with depression, but not in healthy controls. Slow-frequency spindle activity was associated with reduction in the magnitude of motor memory consolidation in both groups. Because the changes in slow-frequency spindle activity affected the thalamocortical network dysfunction in patients medicated for depression, dysregulated spindle generation may impair sleep-dependent memory consolidation. Our findings may help to elucidate the cognitive deficits that occur in patients with major depression both in the waking state and during sleep.

Sleep spindle alterations in patients with Parkinson's disease

PubMed Central

Christensen, Julie A. E.; Nikolic, Miki; Warby, Simon C.; Koch, Henriette; Zoetmulder, Marielle; Frandsen, Rune; Moghadam, Keivan K.; Sorensen, Helge B. D.; Mignot, Emmanuel; Jennum, Poul J.

2015-01-01

The aim of this study was to identify changes of sleep spindles (SS) in the EEG of patients with Parkinson's disease (PD). Five sleep experts manually identified SS at a central scalp location (C3-A2) in 15 PD and 15 age- and sex-matched control subjects. Each SS was given a confidence score, and by using a group consensus rule, 901 SS were identified and characterized by their (1) duration, (2) oscillation frequency, (3) maximum peak-to-peak amplitude, (4) percent-to-peak amplitude, and (5) density. Between-group comparisons were made for all SS characteristics computed, and significant changes for PD patients vs. control subjects were found for duration, oscillation frequency, maximum peak-to-peak amplitude and density. Specifically, SS density was lower, duration was longer, oscillation frequency slower and maximum peak-to-peak amplitude higher in patients vs. controls. We also computed inter-expert reliability in SS scoring and found a significantly lower reliability in scoring definite SS in patients when compared to controls. How neurodegeneration in PD could influence SS characteristics is discussed. We also note that the SS morphological changes observed here may affect automatic detection of SS in patients with PD or other neurodegenerative disorders (NDDs). PMID:25983685

Differential lexical and semantic spreading activation in Alzheimer's disease.

PubMed

Foster, Paul S; Drago, Valeria; Yung, Raegan C; Pearson, Jaclyn; Stringer, Kristi; Giovannetti, Tania; Libon, David; Heilman, Kenneth M

2013-08-01

Alzheimer's disease (AD) is known to be associated with disruption in semantic networks. Previous studies examining changes in spreading activation in AD have used a lexical decision task paradigm. We have used a paradigm based on average word frequencies obtained from the words generated on the Controlled Oral Word Association Test (COWAT) and the Animal Naming (AN) test. The COWAT and AN tests were administered to a group of 25 patients with AD and 20 control participants. We predicted that the patients with AD would have higher average word frequencies on the COWAT and AN tests than the control participants. The results indicated that the AD group generated words with a higher average word frequency on the AN test but a lower average word frequency on the COWAT. The reasons for the discrepancy in average word frequencies on the AN test and COWAT are discussed.

Heart rate variability analysis based on time-frequency representation and entropies in hypertrophic cardiomyopathy patients.

PubMed

Clariá, F; Vallverdú, M; Baranowski, R; Chojnowska, L; Caminal, P

2008-03-01

In hypertrophic cardiomyopathy (HCM) patients there is an increased risk of premature death, which can occur with little or no warning. Furthermore, classification for sudden cardiac death on patients with HCM is very difficult. The aim of our study was to improve the prognostic value of heart rate variability (HRV) in HCM patients, giving insight into changes of the autonomic nervous system. In this way, the suitability of linear and nonlinear measures was studied to assess the HRV. These measures were based on time-frequency representation (TFR) and on Shannon and Rényi entropies, and compared with traditional HRV measures. Holter recordings of 64 patients with HCM and 55 healthy subjects were analyzed. The HCM patients consisted of two groups: 13 high risk patients, after aborted sudden cardiac death (SCD); 51 low risk patients, without SCD. Five-hour RR signals, corresponding to the sleep period of the subjects, were considered for the analysis as a comparable standard situation. These RR signals were filtered in the three frequency bands: very low frequency band (VLF, 0-0.04 Hz), low frequency band (LF, 0.04-0.15 Hz) and high frequency band (HF, 0.15-0.45 Hz). TFR variables based on instantaneous frequency and energy functions were able to classify HCM patients and healthy subjects (control group). Results revealed that measures obtained from TFR analysis of the HRV better classified the groups of subjects than traditional HRV parameters. However, results showed that nonlinear measures improved group classification. It was observed that entropies calculated in the HF band showed the highest statistically significant levels comparing the HCM group and the control group, p-value < 0.0005. The values of entropy measures calculated in the HCM group presented lower values, indicating a decreasing of complexity, than those calculated from the control group. Moreover, similar behavior was observed comparing high and low risk of premature death, the values of the entropy being lower in high risk patients, p-value < 0.05, indicating an increase of predictability. Furthermore, measures from information entropy, but not from TFR, seem to be useful for enhanced risk stratification in HCM patients with an increased risk of sudden cardiac death.

The differences between patients with panic disorder and healthy controls in psychophysiological stress profile.

PubMed

Kotianova, Antonia; Kotian, Michal; Slepecky, Milos; Chupacova, Michaela; Prasko, Jan; Tonhajzerova, Ingrid

2018-01-01

Alarming somatic symptoms, in particular, cardiovascular symptoms, are the characteristic feature of panic attacks. Increased cardiac mortality and morbidity have been found in these patients. Power spectral analysis of electrocardiogram R-R intervals is known to be a particularly successful tool in the detection of autonomic instabilities in various clinical disorders. Our study aimed to compare patients with panic disorder and healthy controls in heart rate variation (HRV) parameters (very-low-frequency [VLF], low-frequency [LF], and high-frequency [HF] band components of R-R interval) in baseline and during the response to the mental task. We assessed psychophysiological variables in 33 patients with panic disorder (10 men, 23 women; mean age 35.9±10.7 years) and 33 age- and gender-matched healthy controls (10 men, 23 women; mean age 35.8±12.1 years). Patients were treatment naïve. Heart rate, blood pressure, muscle tension, and HRV in basal conditions and after the psychological task were assessed. Power spectrum was computed for VLF (0.003-0.04 Hz), LF (0.04-0.15 Hz), and HF (0.15-0.40 Hz) bands using fast Fourier transformation. In the baseline period, the VLF band was significantly lower in panic disorder group compared to controls ( p <0.005). In the period of mental task, the LF/HF ratio was significantly higher in panic disorder patients compared to controls ( p <0.05). No significant differences were found in the remaining parameters. There was a significant difference in ΔHF and ΔLF/HF ratio between patients and controls, with Δ increasing in patients and decreasing in controls. These findings revealed that patients suffering from panic disorder were characterized by relative sympathetic dominance (reactivity) in response to mental stress compared with healthy controls.

[Relationship between the Fnu4HI site polymorphism of monoamine oxidase A gene and Parkinson's disease].

PubMed

Jiang, Xiao-hua; Yang, Hui; Yang, Jing-fang; Dong, Xiu-min; Xu, Qun-yuan; Chen, Biao

2003-06-01

To study the association between the polymorphism of human monoamine oxidase type A (MAO-A) gene and Parkinson's disease(PD). Fnu4HI restriction fragment length polymorphism(RFLP) and PCR-RFLP were used to detect the mutation of MAO-A gene. The frequencies of alleles and genotypes at the MAO-A Fnu4HI locus on the X chromosome in different PD group were compared with those of the control group. It was found that the frequencies of G allele in the patients with PD and controls were 0.613 and 0.527 respectively, P=0.039 "the frequencies of TT genotype were 0.303 and 0.415(P=0.014), and the frequencies of GG genotype were 0.564 and 0.451 respectively(P=0.021). When the patients were divided into two groups by age-onset, significant difference in the allelic and genotypic frequencies was observed only between early-onset PD group and control group. And when the PD patients were grouped by sex, significant difference was observed only between male PD group and male control group (the frequencies of G allele being 0.669 and 0.500 respectively, P=0.005). This study revealed significant differences between PD group and control group in allelic and genotypic frequencies. The findings supported the hypothesis about an association between MAO-A gene and PD, suggesting that age at onset of PD and gender predisposition might be related to the putative association, and Fnu4HI SNP be a risk factor for PD.

Serum cholinesterase variants in African leprosy patients resident in Rhodesia.

PubMed

Whittaker, M; Lowe, R F; Ellis, B P

1976-01-01

Blood samples from 580 African leprosy patients living in Rhodesia have been phenotyped for the plasma cholinesterase variants. The Africans have been grouped according to country of origin and tribal affiliation. We have found no individual with an Ea1 gene and are unable to resolve the contradictory evidence for an association between this gene and leprosy. The frequency of the Ef1 gene is higher than that usually found in Caucasian populations, being 0.046 in lepromatous leprosy patients and similar to the 0.056 found in healthy African controls. In tuberculoid leprosy patients the frequency is, however, significantly lower at 0.019. On the other hand, the frequency of the C5+ variant is essentially the same for the tuberculoid leprosy patients and the healthy controls (4%) while for the lepromatous leprosy patients it is about 7% approaching the 10-15% found in many Caucasian populations.

Argyrophilic grain disease as a neurodegenerative substrate in late-onset schizophrenia and delusional disorders.

PubMed

Nagao, Shigeto; Yokota, Osamu; Ikeda, Chikako; Takeda, Naoya; Ishizu, Hideki; Kuroda, Shigetoshi; Sudo, Koichiro; Terada, Seishi; Murayama, Shigeo; Uchitomi, Yosuke

2014-06-01

To study the relationship between neurodegenerative diseases including argyrophilic grain disease (AGD) and late-onset schizophrenia and delusional disorders (LOSD; onset ≥40 years of age), we pathologically examined 23 patients with LOSD, 71 age-matched normal controls, and 22 psychiatric disease controls (11 depression, six personality disorder, two bipolar disorders, and three neurotic disorders cases). In all LOSD cases (compared to age-matched normal controls), the frequencies of Lewy body disease (LBD), AGD, and corticobasal degeneration (CBD) were 26.1 % (11.3 %), 21.7 % (8.5 %), and 4.3 % (0.0 %), respectively. There was no case of pure Alzheimer's disease (AD). The total frequency of LBD, AGD, and CBD was significantly higher in LOSD cases than in normal controls. Argyrophilic grains were significantly more severe in LOSD than in controls, but were almost completely restricted to the limbic system and adjacent temporal cortex. In LOSD patients whose onset occurred at ≥65 years of age (versus age-matched normal controls), the frequencies of LBD and AGD were 36.4 % (19.4 %) and 36.4 % (8.3 %), respectively, and AGD was significantly more frequent in LOSD patients than in normal controls. In LOSD patients whose onset occurred at <65 years of age, the frequencies of LBD, AGD, and CBD were 16.7, 8.3, and 8.3 %, comparable to those of age-matched normal controls (10.2, 5.1, and 0.0 %). In all psychiatric cases, delusion was significantly more frequent in AGD cases than in cases bearing minimal AD pathology alone. Given these findings, LOSD patients may have heterogeneous pathological backgrounds, and AGD may be associated with the occurrence of LOSD especially after 65 years of age.

The effect of sex counselling in the sexual activity of acute myocardial infarction patients after primary percutaneous coronary intervention.

PubMed

Xu, Feng; Ming, Qiang; Hou, Lei

2015-08-01

Primary percutaneous coronary intervention has improved the outcome of acute myocardial infarction (AMI) patients. Counsel-guided sex rehabilitation efficacy in acute myocardial infarction patients receiving percutaneous coronary intervention remains unknown. The aim of the study was to study counsel-guided sex rehabilitation efficacy in AMI patients receiving percutaneous coronary intervention. 240 AMI patients who received percutaneous coronary intervention were randomly divided into a control and a counselling group. Control group patients were given written sex rehabilitation instruction before discharge, while counselling group patients were given written instruction before discharge and monthly counselling with healthcare providers. Before discharge, the first evaluation was performed for frequency of and satisfaction with sexual activity before AMI. At one year of follow-up, the time of resuming, frequency of and satisfaction with sexual activity was evaluated. The main adverse event rates were also investigated. No significant differences in age, sex, smoking status, hypertension, diabetes, PVD (peripheral vascular disease), EF (ejection fraction) or GRACE (Global Registry of Acute Coronary Events) score were found between the groups. Both groups suffered reduced frequency of and satisfaction with sexual activity after AMI as compared with prior to presentation with AMI. However, compared with controls, the counselling group had higher scores for frequency of and satisfaction with sexual activity after AMI. The time to resume sexual activity after AMI in the counselling group was significantly shorter than was found for the control group.There were no significant differences between the groups for recurrent AMI, non-fatal stroke, admitting the patient for angina, all-cause death or adverse events. Intermittent discussions between healthcare providers and AMI patients improved resumption of sexual activity. Encouraging patients who received complete coronary revascularization to resume sexual activity shortly after AMI was safe.

Cytogenetic Abnormality in Exfoliated Cells of Buccal Mucosa in Head and Neck Cancer Patients in the Tunisian Population: Impact of Different Exposure Sources

PubMed Central

Khlifi, Rim; Trabelsi-Ksibi, Fatma; Chakroun, Amine; Rebai, Ahmed; Hamza-Chaffai, Amel

2013-01-01

Chromosome/DNA instability could be one of the primary causes of malignant cell transformation. The objective of the present study was to evaluate the spontaneous genetic damages in exfoliated cells of buccal mucosa of head and neck cancer (HNC) by counting micronucleus (MN) and binucleated (BN) cells frequencies. MN and BN frequencies were significantly increased in HNC patients compared with controls (5.53 ± 3.09/1000 cells, 5.63 ± 2.99/1000 cells versus 2.36 ± 2.11/1000 cells, 3.09 ± 1.82/1000 cells, P < 0.001). Regarding the gender and the age, the frequencies of the MN and BN were significantly higher than those of controls (P < 0.01). The evaluation of the MN and BN frequencies revealed a significant increase (P < 0.001) in the cases in relation to the control group after controlling the risk factors (tobacco smoking and chewing and occupational exposure) of HNC. Moreover, MN and BN frequencies were significantly increased in smokers and chewers compared with nonsmokers and nonchewers among patients (P < 0.05). MN frequency was significantly (P = 0.014) different between patients occupationally exposed (6.99 ± 3.40/1000 cells) and nonexposed (4.70 ± 2.48/1000 cells) among HNC group. The logistic regression model illustrated that HNC was significantly associated with frequencies of MN (OR = 8.63, P < 0.0001) and BN (OR = 5.62, P = 0.001). Our results suggest that increased chromosome/DNA instabilities may be associated with HNC. PMID:23957010

Acoustic and Perceptual Analyses of Adductor Spasmodic Dysphonia in Mandarin-speaking Chinese.

PubMed

Chen, Zhipeng; Li, Jingyuan; Ren, Qingyi; Ge, Pingjiang

2018-02-12

The objective of this study was to examine the perceptual structure and acoustic characteristics of speech of patients with adductor spasmodic dysphonia (ADSD) in Mandarin. Case-Control Study MATERIALS AND METHODS: For the estimation of dysphonia level, perceptual and acoustic analysis were used for patients with ADSD (N = 20) and the control group (N = 20) that are Mandarin-Chinese speakers. For both subgroups, a sustained vowel and connected speech samples were obtained. The difference of perceptual and acoustic parameters between the two subgroups was assessed and analyzed. For acoustic assessment, the percentage of phonatory breaks (PBs) of connected reading and the percentage of aperiodic segments and frequency shifts (FS) of vowel and reading in patients with ADSD were significantly worse than controls, the mean harmonics-to-noise ratio and the fundamental frequency standard deviation of vowel as well. For perceptual evaluation, the rating of speech and vowel in patients with ADSD are significantly higher than controls. The percentage of aberrant acoustic events (PB, frequency shift, and aperiodic segment) and the fundamental frequency standard deviation and mean harmonics-to-noise ratio were significantly correlated with the perceptual rating in the vowel and reading productions. The perceptual and acoustic parameters of connected vowel and reading in patients with ADSD are worse than those in normal controls, and could validly and reliably estimate dysphonia of ADSD in Mandarin-speaking Chinese. Copyright © 2017 The Voice Foundation. Published by Elsevier Inc. All rights reserved.

Associations of ICOS and PD.1 Gene Variants with Colon Cancer Risk in The Iranian Population

PubMed

Shamsdin, Seyedeh Azra; Karimi, Mohammad Hossein; Hosseini, Seyed Vahid; Geramizadeh, Bita; Fattahi, Mohamad Reza; Mehrabani, Davood; Moravej, Ali

2018-03-27

Background: Positive and negative co-stimulatory molecules are important factors determining the outcome of immune responses to the presence of tumors. Since co-stimulatory molecule expression may be affected by gene polymorphisms, we aimed to investigate associations between variants of PD.1 and ICOS and susceptibility to colon cancer. Material and methods: ICOS (-693A/G), ICOS (+1720C/T) and PD.1 (-538G/A) gene polymorphisms were evaluated by the PCR-RFLP method in 76 colon cancer patients and 73 healthy controls. Results: The frequencies of the GG genotype and the G allele at position -693 of the ICOS gene were significantly higher in the patient group (P=0.014 and p=0.0002), while the AA genotype was significantly more common in controls (P=0.0016). At position -538 of PD.1, GG genotype and G allele frequencies were higher in the patient group (P<0.0001and P<0.0001). Again, AA and also AG genotypes significantly predominated in controls (P<0.0001 and P=0.012). Regarding genotypes and alleles of ICOS at position +1720. Frequencies of GCG and GTG haplotypes were higher in patients compared to those of controls (P=0.016 and P<0.0001), while, frequencies of GTA, ATA and ATG haplotypes were higher in controls (P=0.0017, P<0.0001 and P=0.015). GTG/GTG and GTG/GCG double haplotypes were more frequent in patients compared to controls (P=0.0147 and P=0.0071). Conclusion: Our study clarified that PD.1 (-538G/A) and ICOS (-693A/G) gene polymorphisms can be considered as genetic risk factors for the development of colon cancer among Iranian patients. Creative Commons Attribution License

Screening of Two ADH4 Variations in a Swedish Cluster Headache Case–Control Material

PubMed Central

Fourier, Carmen; Ran, Caroline; Steinberg, Anna; Sjöstrand, Christina; Waldenlind, Elisabet

2016-01-01

Background Cluster headache (CH) is a severe neurovascular disorder and an increasing amount of evidence points to a genetic contribution to this disease. When CH was first described, it was observed that alcohol may precipitate an attack during the active phase of the disease. The alcohol dehydrogenase 4 (ADH4) gene encodes an enzyme which contributes to the metabolization of alcohol and is, therefore, an interesting candidate gene for CH. Two Italian groups have reported association of the single nucleotide polymorphism (SNP) rs1126671 located in the ADH4 gene with an increased risk of CH in Italy. In addition, one of the groups found an association between the ADH4 SNP rs1800759 and CH. Objective To perform a replication study on the ADH4 SNPs rs1126671 and rs1800759 in a large homogeneous Swedish case–control cohort in order to further investigate the possible contribution of ADH4 to CH. Methods A total of 390 unrelated patients diagnosed with CH and 389 controls representing a general Swedish population were recruited to the study. DNA samples from patients and controls were genotyped for the two ADH4 SNPs rs1126671 and rs1800759 using quantitative real‐time polymerase chain reaction. Statistical analyses of genotype, allele and haplotype frequencies for the two SNPs were performed and compared between patients and controls. Results For rs1126671, the minor allele frequency (A allele) was 32.8% (n = 254) in controls compared with 31.9% (n = 249) in CH patients. The minor allele frequency (A allele) of rs1800759 was 42.3% (n = 324) in controls and 41.9% (n = 327) in CH patients. Statistical analysis showed no significant differences in allele as well as in genotype or haplotype frequencies between the patient and control group for either SNP. This was also seen after stratifying the patient group for experiencing alcohol as a trigger factor. Conclusions The data did not support an association of the ADH4 SNPs rs1126671 and rs1800759 with CH. A comparison with previous studies revealed variance in genotype, allele, and haplotype frequencies among the different populations which might contribute to the contradictory results. Although a significant association with CH in Swedish case–control group was not found, ADH4 as a candidate gene for CH could not be excluded. PMID:27041676

Blunted autonomic response in cluster headache patients.

PubMed

Barloese, Mads; Brinth, Louise; Mehlsen, Jesper; Jennum, Poul; Lundberg, Helena Inez Sofia; Jensen, Rigmor

2015-12-01

Cluster headache (CH) is a disabling headache disorder with chronobiological features. The posterior hypothalamus is involved in CH pathophysiology and is a hub for autonomic control. We studied autonomic response to the head-up tilt table test (HUT) including heart rate variability (HRV) in CH patients and compared results to healthy controls. Twenty-seven episodic and chronic CH patients and an equal number of age-, sex- and BMI-matched controls were included. We analyzed responses to HUT in the time and frequency domain and by non-linear analysis. CH patients have normal cardiovascular responses compared to controls but increased blood pressure. In the frequency analysis CH patients had a smaller change in the normalized low- (LF) (2.89 vs. 13.38, p < 0.05) and high-frequency (HF) (-2.86 vs. -13.38, p < 0.05) components as well as the LF/HF ratio (0.81 vs. 2.62, p < 0.05) in response to tilt. In the Poincaré plot, the change in ratio between long- and short-term variation was lower in patients (SD1/SD2, -0.05 vs. -0.17, p < 0.05). CH patients show decreased autonomic response to HUT compared to healthy controls. This can be interpreted as dysregulation in the posterior hypothalamus and supports a theory of central autonomic mechanisms involvement in CH. © International Headache Society 2015.

Multisensory stimuli elicit altered oscillatory brain responses at gamma frequencies in patients with schizophrenia

PubMed Central

Stone, David B.; Coffman, Brian A.; Bustillo, Juan R.; Aine, Cheryl J.; Stephen, Julia M.

2014-01-01

Deficits in auditory and visual unisensory responses are well documented in patients with schizophrenia; however, potential abnormalities elicited from multisensory audio-visual stimuli are less understood. Further, schizophrenia patients have shown abnormal patterns in task-related and task-independent oscillatory brain activity, particularly in the gamma frequency band. We examined oscillatory responses to basic unisensory and multisensory stimuli in schizophrenia patients (N = 46) and healthy controls (N = 57) using magnetoencephalography (MEG). Time-frequency decomposition was performed to determine regions of significant changes in gamma band power by group in response to unisensory and multisensory stimuli relative to baseline levels. Results showed significant behavioral differences between groups in response to unisensory and multisensory stimuli. In addition, time-frequency analysis revealed significant decreases and increases in gamma-band power in schizophrenia patients relative to healthy controls, which emerged both early and late over both sensory and frontal regions in response to unisensory and multisensory stimuli. Unisensory gamma-band power predicted multisensory gamma-band power differently by group. Furthermore, gamma-band power in these regions predicted performance in select measures of the Measurement and Treatment Research to Improve Cognition in Schizophrenia (MATRICS) test battery differently by group. These results reveal a unique pattern of task-related gamma-band power in schizophrenia patients relative to controls that may indicate reduced inhibition in combination with impaired oscillatory mechanisms in patients with schizophrenia. PMID:25414652

A controlled study of Tourette syndrome. IV. Obsessions, compulsions, and schizoid behaviors.

PubMed Central

Comings, D E; Comings, B G

1987-01-01

To determine the frequency of obsessive, compulsive, and schizoid behaviors in Tourette syndrome (TS), we prospectively questioned 246 patients with TS, 17 with attention-deficit disorder (ADD), 15 with ADD due to a TS gene, and 47 random controls. The comparative frequency of obsessive, compulsive, and repetitive behaviors--such as obsessive unpleasant thoughts, obsessive silly thoughts, echolalia, palilalia, touching things excessively, touching things a specific number of times, touching others excessively, sexual touching, biting or hurting oneself, head banging, rocking, mimicking others, counting things, and occasional or frequent public exhibitionism--were significantly more common in TS patients than in controls. The frequency of each of these was much higher for grade 3 (severe) TS. Most of these behaviors also occurred significantly more often in individuals with ADD or in individuals with ADD secondary to TS (ADD 2(0) TS). When these features were combined into an obsessive-compulsive score, 45.4% of TS patients had a score of 4-15, whereas 8.5% of controls had a score of 4 or 5. These results indicate that obsessive-compulsive behaviors are an integral part of the expression of the TS gene and can be inherited as an autosomal dominant trait. Schizoid symptoms, such as thinking that people were watching them or plotting against them, were significantly more common in TS patients than in controls. Auditory hallucinations of hearing voices were present in 14.6% of TS patients, compared with 2.1% of controls (P = .02). These symptoms were absent in ADD patients but present in ADD 2(0) TS patients. These voices were often blamed for telling them to do bad things and were frequently identified with the devil. None of the controls had a total schizoid behavior score greater than 3, whereas 10.9% of the TS patients had scores of 4-10 (P = .02). This frequency increased to 20.6% in the grade 3 TS patients. These quantitative results confirm our clinical impression that some TS patients have paranoid ideations, often feel that people are out to get them, and hear voices. PMID:3479015

Frequencies of apolipoprotein E alleles in depressed patients undergoing hemodialysis--a case-control study.

PubMed

Su, Yan-yan; Zhang, Yun-fang; Yang, Shen; Wang, Jie-lin; Hua, Bao-jun; Luo, Jie; Wang, Qi; Zeng, De-wang; Lin, Yan-qun; Li, Hong-yan

2015-06-01

To explore the relation between the frequencies of apolipoprotein E (ApoE) alleles and the occurrence of depression in patients undergoing hemodialysis in a Chinese population. We examined the ApoE alleles in a sample of 288 subjects: 72 patients with depression under hemodialysis, 74 patients without depression under hemodialysis, 75 patients with depression under nondialytic treatment and 67 patients without depression under nondialytic treatment. The depression state was assessed using the Center for Epidemiological Studies Depression (CES-D) scale. Associations between the occurrence of depression and the frequencies of ApoE alleles were examined using multinomial logistic regression models with adjustment of relevant covariates. Information about sociodemographics, clinical data, vascular risk factors and cognitive function was also collected and evaluated. The frequencies of ApoE-ɛ2 were significantly different between depressed and non-depressed patients irrespective of dialysis (p < 0.05), but no significant difference was found in the frequencies of ApoE-ɛ4 (p > 0.05). Serum ApoE levels were significantly different between depressed and non-depressed patients in the whole sample (p < 0.05). Multinomial logistic regression models showed significant association between the frequency of ApoE-ɛ2 and the occurrence of depression in the Chinese population after control of relevant covariates, including age, sex, educational level, history of smoking and drinking, vascular risk factors and cognitive function. No association between the frequency of ApoE-ɛ4 and the occurrence of depression was found in patients undergoing hemodialysis. Further research is needed to find out if ApoE-ɛ2 acts as a protective factor in Chinese dialysis population since it might decrease the prevalence of depression and delay the onset age.

Beta 2 adrenergic receptor polymorphisms, at codons 16 and 27, and bronchodilator responses in adult Venezuelan asthmatic patients.

PubMed

Larocca, Nancy; Moreno, Dolores; Garmendia, Jenny Valentina; Velasquez, Olga; Martin-Rojo, Joana; Talamo, Carlos; Garcia, Alexis; De Sanctis, Juan Bautista

2013-12-01

One of the gene polymorphisms often studied in asthmatic patients is the β2 adrenergic receptor (ADRβ2). Even though in the Venezuelan Mestizo population there is a high incidence of asthma, there are no direct reports of ADRβ2 gene polymorphism, and treatment response. The aim of this study was to assess, in this population, the gene frequency of ADRβ2 polymorphisms at codons 16 Arg/Gly and 27 Gln/Glu, allergen sensitization, and its relationship to bronchodilator response. Purified genomic DNA was obtained form 105 Mestizo asthmatic and 100 Mestizo healthy individuals from Venezuela. The two polymorphisms were assessed by PCR-RFLP. Patient sensitization to aeroallergens and their response to bronchodilatation were correlated. Significant differences between patients and controls were recorded in: 1) the prevalence of Arg/Arg at codon 16 (28.6% in patients vs. 47% in controls, P<0.01), 2) the frequency of heterozygotes Arg/Gly (55% in patients vs. 35% in controls, P<0.01). Conversely, no differences in polymorphism frequencies were found at codon 27. The haplotypes Arg/Gly-Gln/Gln were more common in patients than controls (P <0.01), whereas the Arg/Arg-Gln/Glu combination prevailed in the control group (P<0.01). The Arg/Gly and Gln/Glu genotypes were associated with better responses after salbutamol. The asthmatic homozygotes Arg/Arg have higher sensitivity to aeroallergens. The difference in Arg/Arg frequency between groups suggests that this could be a protective genotype although the asthmatic group had a higher sensitivity to aeroallergens. The asthmatic heterozygotes had better bronchodilator responses than the homozygotes.

On the analysis of EEG power, frequency and asymmetry in Parkinson’s disease during emotion processing

PubMed Central

2014-01-01

Objective While Parkinson’s disease (PD) has traditionally been described as a movement disorder, there is growing evidence of disruption in emotion information processing associated with the disease. The aim of this study was to investigate whether there are specific electroencephalographic (EEG) characteristics that discriminate PD patients and normal controls during emotion information processing. Method EEG recordings from 14 scalp sites were collected from 20 PD patients and 30 age-matched normal controls. Multimodal (audio-visual) stimuli were presented to evoke specific targeted emotional states such as happiness, sadness, fear, anger, surprise and disgust. Absolute and relative power, frequency and asymmetry measures derived from spectrally analyzed EEGs were subjected to repeated ANOVA measures for group comparisons as well as to discriminate function analysis to examine their utility as classification indices. In addition, subjective ratings were obtained for the used emotional stimuli. Results Behaviorally, PD patients showed no impairments in emotion recognition as measured by subjective ratings. Compared with normal controls, PD patients evidenced smaller overall relative delta, theta, alpha and beta power, and at bilateral anterior regions smaller absolute theta, alpha, and beta power and higher mean total spectrum frequency across different emotional states. Inter-hemispheric theta, alpha, and beta power asymmetry index differences were noted, with controls exhibiting greater right than left hemisphere activation. Whereas intra-hemispheric alpha power asymmetry reduction was exhibited in patients bilaterally at all regions. Discriminant analysis correctly classified 95.0% of the patients and controls during emotional stimuli. Conclusion These distributed spectral powers in different frequency bands might provide meaningful information about emotional processing in PD patients. PMID:24716619

Frequency of Propionibacterium acnes Infection in Prostate Glands with Negative Biopsy Results Is an Independent Risk Factor for Prostate Cancer in Patients with Increased Serum PSA Titers.

PubMed

Kakegawa, Tomoya; Bae, Yuan; Ito, Takashi; Uchida, Keisuke; Sekine, Masaki; Nakajima, Yutaka; Furukawa, Asuka; Suzuki, Yoshimi; Kumagai, Jiro; Akashi, Takumi; Eishi, Yoshinobu

2017-01-01

Propionibacterium acnes has recently been implicated as a cause of chronic prostatitis and this commensal bacterium may be linked to prostate carcinogenesis. The occurrence of intracellular P. acnes infection in prostate glands and the higher frequency of P. acnes-positive glands in radical prostatectomy specimens from patients with prostate cancer (PCa) than in those from patients without PCa led us to examine whether the P. acnes-positive gland frequency can be used to assess the risk for PCa in patients whose first prostate biopsy, performed due to an increased prostate-specific antigen (PSA) titer, was negative. We retrospectively collected the first and last prostate biopsy samples from 44 patients that were diagnosed PCa within 4 years after the first negative biopsy and from 36 control patients with no PCa found in repeated biopsy for at least 3 years after the first biopsy. We evaluated P. acnes-positive gland frequency and P. acnes-positive macrophage number using enzyme-immunohistochemistry with a P. acnes-specific monoclonal antibody (PAL antibody). The frequency of P. acnes-positive glands was higher in PCa samples than in control samples in both first biopsy samples and in combined first and last biopsy samples (P < 0.001). A frequency greater than the threshold (18.5 and 17.7, respectively) obtained by each receiver operating characteristic curve was an independent risk factor for PCa (P = 0.003 and 0.001, respectively) with odds ratios (14.8 and 13.9, respectively) higher than those of serum PSA titers of patients just before each biopsy (4.6 and 2.3, respectively). The number of P. acnes-positive macrophages did not differ significantly between PCa and control samples. These results suggested that the frequency of P. acnes-positive glands in the first negative prostate biopsy performed due to increased PSA titers can be supportive information for urologists in planning repeated biopsy or follow-up strategies.

Impulse control disorders in advanced Parkinson's disease with dyskinesia: The ALTHEA study.

PubMed

Biundo, Roberta; Weis, Luca; Abbruzzese, Giovanni; Calandra-Buonaura, Giovanna; Cortelli, Pietro; Jori, Maria Cristina; Lopiano, Leonardo; Marconi, Roberto; Matinella, Angela; Morgante, Francesca; Nicoletti, Alessandra; Tamburini, Tiziano; Tinazzi, Michele; Zappia, Mario; Vorovenci, Ruxandra Julia; Antonini, Angelo

2017-11-01

Impulse control disorders and dyskinesia are common and disabling complications of dopaminergic treatment in Parkinson's disease. They may coexist and are possibly related. The objectives of this study were to assess the frequency and severity of impulse control disorders in Parkinson's disease patients with dyskinesia. The ALTHEA study enrolled 251 Parkinson's disease patients with various degrees of dyskinesia severity from 11 movement disorders centers in Italy. Each patient underwent a comprehensive assessment including Unified Dyskinesia Rating Scale and the Questionnaire for Impulsive Compulsive Disorders in Parkinson Disease-Rating Scale. There was an overall 55% frequency of impulse control disorder and related behaviors (36% were clinically significant). The positive patients were younger at disease diagnosis and onset and had higher Unified Dyskinesia Rating Scale historical and total score (P = 0.001 and P = 0.02, respectively, vs negative). There was an increased frequency of clinically significant impulse control disorders in patients with severe dyskinesia (P = 0.013), a positive correlation between the questionnaire total score and dopamine agonist dose (P = 0.018), and a trend with levodopa dose. More than half of Parkinson's disease patients with dyskinesia have impulse control disorders and related behaviors, which are frequently clinically significant. Dopaminergic therapy total dose is associated with their severity. Clinicians should carefully assess patients with maladaptive behaviors and dyskinesia because they do not properly evaluate their motor and nonmotor status. © 2017 International Parkinson and Movement Disorder Society. © 2017 International Parkinson and Movement Disorder Society.

Genetic instability persists in non-neoplastic urothelial cells from patients with a history of urothelial cell carcinoma.

PubMed

de Castro Marcondes, João Paulo; de Oliveira, Maria Luiza Cotrim Sartor; Gontijo, Alisson M; de Camargo, João Lauro Viana; Salvadori, Daisy Maria Fávero

2014-01-01

Bladder cancer is one of the most common genitourinary neoplasms in industrialized countries. Multifocality and high recurrence rates are prominent clinical features of this disease and contribute to its high morbidity. Therefore, more sensitive and less invasive techniques could help identify individuals with asymptomatic disease. In this context, we used the micronucleus assay to evaluate whether cytogenetic alterations could be used as biomarkers for monitoring patients with a history of urothelial cell carcinoma (UCC). We determined the frequency of micronucleated urothelial cells (MNC) in exfoliated bladder cells from 105 patients with (n = 52) or without (n = 53) a history of UCC, all of whom tested negative for neoplasia by cytopathological and histopathological analyses. MNC frequencies were increased in patients with a history of UCC (non-smoker and smoker/ex-smoker patients vs non-smoker and smoker/ex-smoker controls; p<0.001), in non-smoker UCC patients (vs non-smoker controls; p<0.01), and in smoker/ex-smoker controls (vs non-smoker controls; p<0.001). Patients with a history of recurrent disease also demonstrated a higher MNC frequency compared to patients with non-recurrent neoplasia. However, logistic regression using smoking habits, age and gender as confounding factors did not confirm MNC frequency as a marker for UCC recurrence. Fluorescent in situ hybridization analysis (using a pan-centromeric probe) showed that micronuclei (MN) arose mainly from clastogenic events regardless of UCC and/or smoking histories. In conclusion, our results confirm previous indications that subjects with a history of UCC harbor genetically unstable cells in the bladder urothelium. Furthermore, these results support using the micronucleus assay as an important tool for monitoring patients with a history of UCC and tumor recurrence.

Methylenetetrahydrofolate Reductase Gene Polymorphism (C677T) as a Risk Factor for Arterial Thrombosis in Georgian Patients.

PubMed

Garakanidze, Sopio; Costa, Elísio; Bronze-Rocha, Elsa; Santos-Silva, Alice; Nikolaishvili, Giorgi; Nakashidze, Irina; Kakauridze, Nona; Glonti, Salome; Khukhunaishvili, Rusudan; Koridze, Marina; Ahmad, Sarfraz

2018-01-01

Methylenetetrahydrofolate reductase ( MTHFR) gene polymorphism (C677T)] is a well-recognized genetic risk factor for venous thrombosis; however, its association with arterial thrombosis is still under debate. Herein, we evaluated the prevalence of MTHFR C677T polymorphism in Georgian patients in comparison with healthy individuals and its association with arterial thrombosis. We enrolled 214 participants: 101 with arterial thrombosis (71.3% males; mean age: 66.3 ± 12.1 years) and 113 controls (67.3% males; mean age: 56.6 ± 11.3 years). Genomic DNA was extracted from dry blood spot on Whatman filter paper. Polymerase chain reaction was performed to determine MTHFR C677T polymorphism. Frequency of C677T allele polymorphism in controls was 21.2%, which corresponded to heterozygous and homozygous stage frequencies of 35.4% and 3.5%, respectively. In patient group, an allelic frequency of 33.2% was found, which corresponded to the presence of 48.5% of heterozygous and 8.9% of homozygous individuals. Comparing the frequency of mutated alleles between the 2 groups, a significantly high frequency of mutated alleles was found in patient group ( P < .05). In conclusion, high frequency of MTHFR C677T polymorphism found in arterial thrombosis patient group suggests that this polymorphism might increase the risk of arterial thrombosis in Georgian patients.

The Natural History of Epilepsy in 163 Untreated Patients: Looking for “Oligoepilepsy”

PubMed Central

Gasparini, Sara; Ferlazzo, Edoardo; Leonardi, Cinzia Grazia; Cianci, Vittoria; Mumoli, Laura; Sueri, Chiara; Labate, Angelo; Gambardella, Antonio; Aguglia, Umberto

2016-01-01

The clinical evolution of untreated epilepsy has been rarely studied in developed countries, and the existence of a distinct syndrome characterized by rarely repeated seizures (oligoepilepsy) is debated. The aim of this study is to assess the natural history of 163 untreated patients with epilepsy in order to evaluate whether oligoepilepsy retains specific features. We retrospectively evaluated 7344 patients with ≥2 unprovoked seizures. Inclusion criteria: sufficient anamnestic/EEG data, disease duration ≥10 years, follow-up ≥3 years. Exclusion criteria: psychogenic seizures, natural history of disease <5 years. The 163 included subjects were divided into 2 groups according to seizure frequency: oligoepilepsy (≤1/year; 47 subjects) and controls (>1/year; 116 subjects). We also evaluated seizure frequency during the natural history. There were no differences between groups regarding duration of natural history, family history of epilepsy/febrile seizures, interictal EEG. Subjects with oligoepilepsy differed from controls in terms of sex (females 38% vs. 58%, p = 0.03) and drug resistance (6% vs 28%; p = 0.003). Juvenile myoclonic epilepsy was more frequent in controls (9.5% vs 0%, p = 0.04). Patients with oligoepilepsy, differently from controls, had stable seizure frequency. Oligoepilepsy represents a favourable evolution of different epileptic syndromes and keeps a stable seizure frequency over time. PMID:27657542

Thyroid disease in pustulosis palmoplantaris.

PubMed

Agner, T; Sindrup, J H; Høier-Madsen, M; Hegedüs, L

1989-10-01

An increased frequency of thyroid autoantibodies has been reported in patients with palmar and plantar pustulosis (PPP). This study was undertaken to determine the frequency and type of thyroid disease in 32 patients with this disease compared with a control group. Thyroid disease was demonstrated in 53% of the patients with PPP as compared to 16% in the matched control group. Fourteen patients with PPP had an enlarged thyroid and in six there were thyroid autoantibodies. There appears to be an increased incidence of goitre and thyroid autoantibodies in PPP with a decrease in the level of the thyroid hormones.

Increased frequency of angiotensin-converting enzyme DD genotype in patients with type 2 diabetes in Taiwan.

PubMed

Hsieh, M C; Lin, S R; Hsieh, T J; Hsu, C H; Chen, H C; Shin, S J; Tsai, J H

2000-07-01

Diabetes is one of the major causes of end-stage renal failure in the Taiwanese population. Previous studies have shown that angiotensin-converting enzyme (ACE) inhibitor can improve glucose utilization and suppress hepatic glucose production and the renin-angiotensin system may play an important role in the initiation and progression of diabetic nephropathy. Thus, ACE gene polymorphism may be associated with type 2 diabetes and diabetic nephropathy. To investigate the distribution of ACE-I/D genotype in type 2 diabetes and diabetic nephropathy, we examined 336 patients with type 2 diabetes (157 without nephropathy and 179 with nephropathy) and 263 age-matched normal controls. The diagnosis of nephropathy was made when daily protein loss exceeded 500 mg. ACE gene polymorphism was analysed by use of polymerase chain reaction. Our study revealed that the frequency of the D allele of the ACE gene was 29.3% in normal controls. The frequency of ACE DD genotype was significantly higher in type 2 diabetics compared with normal controls (18.2 vs 9.1%, P<0.01). The frequency of ACE DD genotype in patients with diabetic nephropathy was significantly higher than in patients without nephropathy (22.3 vs 13.4%, P<0.05). To determine whether ACE gene polymorphism was associated with the severity of diabetic nephropathy, we divided patients with diabetic nephropathy into dialysis and non-dialysis groups. The frequency of ACE DD genotype in the dialysis group was significantly higher than in non-dialysis group (28.7 vs 15.3%, P<0.05). Our results indicate that the frequency of ACE DD genotype is markedly higher in patients with type 2 diabetes, and the ACE DD genotype is significantly associated with diabetic nephropathy.

MEG Network Differences between Low- and High-Grade Glioma Related to Epilepsy and Cognition

PubMed Central

van Dellen, Edwin; Douw, Linda; Hillebrand, Arjan; Ris-Hilgersom, Irene H. M.; Schoonheim, Menno M.; Baayen, Johannes C.; De Witt Hamer, Philip C.; Velis, Demetrios N.; Klein, Martin; Heimans, Jan J.; Stam, Cornelis J.; Reijneveld, Jaap C.

2012-01-01

Objective To reveal possible differences in whole brain topology of epileptic glioma patients, being low-grade glioma (LGG) and high-grade glioma (HGG) patients. We studied functional networks in these patients and compared them to those in epilepsy patients with non-glial lesions (NGL) and healthy controls. Finally, we related network characteristics to seizure frequency and cognitive performance within patient groups. Methods We constructed functional networks from pre-surgical resting-state magnetoencephalography (MEG) recordings of 13 LGG patients, 12 HGG patients, 10 NGL patients, and 36 healthy controls. Normalized clustering coefficient and average shortest path length as well as modular structure and network synchronizability were computed for each group. Cognitive performance was assessed in a subset of 11 LGG and 10 HGG patients. Results LGG patients showed decreased network synchronizability and decreased global integration compared to healthy controls in the theta frequency range (4–8 Hz), similar to NGL patients. HGG patients’ networks did not significantly differ from those in controls. Network characteristics correlated with clinical presentation regarding seizure frequency in LGG patients, and with poorer cognitive performance in both LGG and HGG glioma patients. Conclusion Lesion histology partly determines differences in functional networks in glioma patients suffering from epilepsy. We suggest that differences between LGG and HGG patients’ networks are explained by differences in plasticity, guided by the particular lesional growth pattern. Interestingly, decreased synchronizability and decreased global integration in the theta band seem to make LGG and NGL patients more prone to the occurrence of seizures and cognitive decline. PMID:23166829

Slow sleep spindle and procedural memory consolidation in patients with major depressive disorder

PubMed Central

Nishida, Masaki; Nakashima, Yusaku; Nishikawa, Toru

2016-01-01

Introduction Evidence has accumulated, which indicates that, in healthy individuals, sleep enhances procedural memory consolidation, and that sleep spindle activity modulates this process. However, whether sleep-dependent procedural memory consolidation occurs in patients medicated for major depressive disorder remains unclear, as are the pharmacological and physiological mechanisms that underlie this process. Methods Healthy control participants (n=17) and patients medicated for major depressive disorder (n=11) were recruited and subjected to a finger-tapping motor sequence test (MST; nondominant hand) paradigm to compare the averaged scores of different learning phases (presleep, postsleep, and overnight improvement). Participants’ brain activity was recorded during sleep with 16 electroencephalography channels (between MSTs). Sleep scoring and frequency analyses were performed on the electroencephalography data. Additionally, we evaluated sleep spindle activity, which divided the spindles into fast-frequency spindle activity (12.5–16 Hz) and slow-frequency spindle activity (10.5–12.5 Hz). Result Sleep-dependent motor memory consolidation in patients with depression was impaired in comparison with that in control participants. In patients with depression, age correlated negatively with overnight improvement. The duration of slow-wave sleep correlated with the magnitude of motor memory consolidation in patients with depression, but not in healthy controls. Slow-frequency spindle activity was associated with reduction in the magnitude of motor memory consolidation in both groups. Conclusion Because the changes in slow-frequency spindle activity affected the thalamocortical network dysfunction in patients medicated for depression, dysregulated spindle generation may impair sleep-dependent memory consolidation. Our findings may help to elucidate the cognitive deficits that occur in patients with major depression both in the waking state and during sleep. PMID:26869818

Increased fusiform area activation in schizophrenia during processing of spatial frequency-degraded faces, as revealed by fMRI.

PubMed

Silverstein, S M; All, S D; Kasi, R; Berten, S; Essex, B; Lathrop, K L; Little, D M

2010-07-01

People with schizophrenia demonstrate perceptual organization impairments, and these are thought to contribute to their face processing difficulties. We examined the neural substrates of emotionally neutral face processing in schizophrenia by investigating neural activity under three stimulus conditions: faces characterized by the full spectrum of spatial frequencies, faces with low spatial frequency information removed [high spatial frequency (HSF) condition], and faces with high spatial frequency information removed [low spatial frequency (LSF) condition]. Face perception in the HSF condition is more reliant on local feature processing whereas perception in the LSF condition requires greater reliance on global form processing. Past studies of perceptual organization in schizophrenia indicate that patients perform relatively more poorly with degraded stimuli but also that, when global information is absent, patients may perform better than controls because of their relatively increased ability to initially process individual features. Therefore, we hypothesized that people with schizophrenia (n=14) would demonstrate greater face processing difficulties than controls (n=13) in the LSF condition, whereas they would demonstrate a smaller difference or superior performance in the HSF condition. In a gender-discrimination task, behavioral data indicated high levels of accuracy for both groups, with a trend toward an interaction involving higher patient performance in the HSF condition and poorer patient performance in the LSF condition. Patients demonstrated greater activity in the fusiform gyrus compared to controls in both degraded conditions. These data suggest that impairments in basic integration abilities may be compensated for by relatively increased activity in this region.

New insights of HLA class I association to Behçet's disease in Portuguese patients.

PubMed

Bettencourt, A; Pereira, C; Carvalho, L; Carvalho, C; Patto, J V; Bastos, M; Silva, A M; Barros, R; Vasconcelos, C; Paiva, P; Costa, L; Costa, P P; Mendonça, D; Correia, J; Silva, B M

2008-10-01

Human leukocyte antigen (HLA)-B*51 is a well-known genetic factor associated with Behçet's disease (BD). To analyse the influence of HLA-B*51 and other HLA class I alleles in BD susceptibility in a Portuguese population and its association with disease severity, we studied 78 BD patients and 208 healthy controls. The patients were classified into two severity groups as described by Gul et al. As expected, a higher frequency of HLA-B*51 was found. The frequency of HLA-Cw*16 alleles was significantly higher in patients. Regarding severity, HLA-B*27 frequency was higher in the severe group compared with controls and with the mild group. Thus, HLA-B*51 and HLA-Cw*16 seem to confer susceptibility to BD in this patients. HLA-B*27 may be important as a prognostic factor.

Altered cardiovascular vagal responses in nonelderly female patients with subclinical hyperthyroidism and no apparent cardiovascular disease.

PubMed

Portella, Renata Boschi; Pedrosa, Roberto Coury; Coeli, Claudia Medina; Buescu, Alexandru; Vaisman, Mario

2007-08-01

Subclinical hyperthyroidism (SH) has been associated with exercise intolerance, changes in cardiac morphology, atrial arrhythmias and sympathovagal imbalance. The aim of this study was to evaluate the vagal reserve and modulation by a sympathetic stimulus in nonelderly patients with SH without cardiovascular problems. We carried out a cross-sectional study, comparing data of the heart rate variability (HRV) of SH patients and healthy controls at rest and after vagal and sympathetic stimulation. We studied 16 female patients with at least 6 months of SH and 16 healthy female controls with the same median age (40 vs. 34.5 years). We used the tilt test, with electrocardiographic record at rest, during the respiratory sinus arrhythmia (RSA) manoeuvre and after tilting, in order to analyse HRV in the frequency domain (%high frequency (HF) and low/high frequency ratio (LF/HF) using Biopotentials Captation System software. The median TSH level was 0.03 mU/l in patients and 1.37 mUI/l in controls. The median free T4 was 1.37 ng/dl in patients and 1.20 ng/dl in controls. Patients demonstrated a significantly smaller difference between %HF during the RSA and %HF at rest than controls (median -7.5 vs. 36.6, P < 0.001). There was a lower difference between LF/HF ratio after tilting and LF/HF ratio at rest in patients than in controls (1.5 vs. 5.3, P = 0.005). Subclinical hyperthyroidism affects cardiovascular autonomic balance in otherwise apparently healthy nonelderly females by blunting vagal responses.

The role of antiepileptic drugs in free radicals generation and antioxidant levels in epileptic patients.

PubMed

Eldin, Essam Eldin Mohamed Nour; Elshebiny, Hosam Abdel-Fattah; Mohamed, Tarek Mostafa; Abdel-Aziz, Mohamed Abdel-Azim; El-Readi, Mahmoud Zaki

2016-01-01

Many risk factors are encountered during the pathogenesis of epilepsy. In this study, the effect of seizure frequency on free radical generation and antioxidants levels in epileptic patients was evaluated. This study was carried out on 15 healthy controls (GI) and 60 epileptic patients treated with mono- or poly-therapy of carbamazepine, valproic acid, or phenytoin. The treated epileptic patients were divided into 2 main groups according to the seizure frequency: controlled seizure patients GII (n = 30) and uncontrolled seizure patients GIII (n = 30). GII included the GIIA subgroup (n = 15) which had been seizure free for more than 12 months and the GIIB subgroup (n = 15) which had been seizure free for a period from 6 to12 months. GIII included GIIIA (n = 15) and GIIIB (n = 15) for patients which had a seizure frequency of less than and more than four times/month, respectively. In comparison to the control group (GI), the levels of nitric oxide (NO) and malondialdehyde/creatinine ratio were significantly increased in GIIB, GIIIA, and GIIIB, while vitamins A and E levels were significantly decreased in GIIIB. Serum NO levels had significant negative correlations with serum vitamin E in the GIIA and GIIB groups, and with vitamin A in the GIIIA and GIIIB groups. However, serum NO had positive correlation with urinary MDA/Cr ratio. The imbalance between free radical generation and antioxidant system in epileptic patients may be a factor in seizure frequency.

Bruxism in craniocervical dystonia: a prospective study.

PubMed

Borie, Laetitia; Langbour, Nicolas; Guehl, Dominique; Burbaud, Pierre; Ella, Bruno

2016-09-01

Bruxism pathophysiology remains unclear, and its occurrence has been poorly investigated in movement disorders. The aim of this study was to compare the frequency of bruxism in patients with craniocervical dystonia vs. normal controls and to determine its associated clinical features. This is a prospective-control study. A total of 114 dystonic subjects (45 facial dystonia, 69 cervical dystonia) and 182 controls were included. Bruxism was diagnosed using a hetero-questionnaire and a clinical examination performed by trained dentists. Occurrence of bruxism was compared between the different study populations. A binomial logistic regression analysis was used to determine which clinical features influenced bruxism occurrence in each population. The frequency of bruxism was significantly higher in the dystonic group than in normal controls but there was no difference between facial and cervical dystonia. It was also higher in women than in men. Bruxism features were similar between normal controls and dystonic patients except for a higher score of temporomandibular jaw pain in the dystonic group. The higher frequency of bruxism in dystonic patients suggests that bruxism is increased in patients with basal ganglia dysfunction but that its nature does not differ from that seen in bruxers from the normal population.

Randomized controlled trial of foot reflexology for patients with symptomatic idiopathic detrusor overactivity.

PubMed

Mak, Ho-Leung Jimmy; Cheon, Willy Cecilia; Wong, To; Liu, Yu Sun John; Tong, Wai Mei Anny

2007-06-01

The aim of this study was to examine whether foot reflexology has beneficial effects on patients with idiopathic detrusor overactivity. One hundred and nine women with symptomatic idiopathic detrusor overactivity were randomized into either foot reflexology treatment group or nonspecific foot massage control group. The primary outcome measure was the change in the diurnal micturition frequency. There was significant change in the number of daytime frequency in the reflexology group when compared with the massage group (-1.90 vs -0.55, p = 0.029). There was also a decrease in the 24-h micturition frequency in both groups, but the change was not statistically significant (-2.80 vs -1.04 p = 0.055). In the reflexology group, more patients believed to have received "true" reflexology (88.9 vs 67.4%, p = 0.012). This reflects the difficulty of blinding in trials of reflexology. Larger scale studies with a better-designed control group and an improved blinding are required to examine if reflexology is effective in improving patients' overall outcome.

Effects of sleep bruxism related tinnitus on quality of life.

PubMed

Saltürk, Ziya; Özçelik, Erdinç; Kumral, Tolgar Lütfi; Çakır, Ozan; Kasımoğlu, Şeref; Atar, Yavuz; Yıldırım, Güven; Berkiten, Güler; Göker, Ayşe Enise; Uyar, Yavuz

2015-01-01

This study aims to analyze the subjective and objective characteristics of tinnitus in sleep bruxism patients. The study included 57 patients (12 males; 45 females; mean age 33.89±12.50 years; range 19 to 55 years) with sleep bruxism and tinnitus (sleep bruxism group) and 24 patients (6 males, 18 females; mean age 43.75±16.19 years; range 21 to 58 years) only with tinnitus (control group). Sleep bruxism was diagnosed by the diagnostic criteria of American Academy of Sleep Medicine. Patients were performed pure tone audiometry to detect hearing thresholds at standard and high frequencies. Tinnitus frequency and loudness were assessed. Subjective aspects of tinnitus were identified by tinnitus handicap inventory. The statistical analysis revealed that the sleep bruxism group had significantly lower hearing thresholds except 1000 Hz and 2000 Hz. Tinnitus frequency was between 3000 Hz and 18000 Hz in sleep bruxism group while it was between 6000 and 16000 Hz in control group with no statistically significant difference (p=0.362). Sleep bruxism group had significantly lower tinnitus loudness and tinnitus handicap inventory scores in comparison to control group (p=0.024 and p=0.000, respectively). Tinnitus caused by sleep bruxism and temporomandibular joint issues has higher frequency and lower loudness compared to patients with only tinnitus.

A genetic marker of the ACKR1 gene is present in patients with Type II congenital smell loss who have type I hyposmia and hypogeusia

PubMed Central

Stateman, William A.; Knöppel, Alexandra B.; Flegel, Willy A.; Henkin, Robert I.

2015-01-01

PURPOSE Our previous study of Type II congenital smell loss patients revealed a statistically significant lower prevalence of an FY (ACKR1, formerly DARC) haplotype compared to controls. The present study correlates this genetic feature with subgroups of patients defined by specific smell and taste functions. METHODS Smell and taste function measurements were performed by use of olfactometry and gustometry to define degree of abnormality of smell and taste function. Smell loss was classified as anosmia or hyposmia (types I, II or III). Taste loss was similarly classified as ageusia or hypogeusia (types I, II or III). Based upon these results patient erythrocyte antigen expression frequencies were categorized by smell and taste loss with results compared between patients within the Type II group and published controls. RESULTS Comparison of antigen expression frequencies revealed a statistically significant decrease in incidence of an Fyb haplotype only among patients with type I hyposmia and any form of taste loss (hypogeusia). In all other patient groups erythrocyte antigens were expressed at normal frequencies. CONCLUSIONS Data suggest that Type II congenital smell loss patients who exhibit both type I hyposmia and hypogeusia are genetically distinct from all other patients with Type II congenital smell loss. This distinction is based on decreased Fyb expression which correlated with abnormalities in two sensory modalities (hyposmia type I and hypogeusia). Only patients with these two specific sensory abnormalities expressed the Fyb antigen (encoded by the ACKR1 gene on the long arm of chromosome 1) at frequencies different from controls. PMID:27968956

Déjà vu experiences in patients with schizophrenia.

PubMed

Adachi, Takuya; Adachi, Naoto; Takekawa, Yoshikazu; Akanuma, Nozomi; Ito, Masumi; Matsubara, Ryouji; Ikeda, Hiroshi; Kimura, Michihiro; Arai, Heii

2006-01-01

To investigate whether déjà vu experiences are psychopathologic phenomena, we studied the frequency and characteristics of déjà vu experiences in patients with schizophrenia. One hundred thirteen patients with schizophrenia and 386 nonclinical control subjects were evaluated with the Inventory of Déjà vu Experiences Assessment. The frequency and features of déjà vu experiences were compared between the 2 groups. The patients with schizophrenia had déjà vu experiences less frequently (53.1%) than did the nonclinical subjects (76.2%). The frequency of déjà vu experiences did not correlate significantly with age at evaluation or education level among the patients with schizophrenia. Most characteristics of déjà vu experiences of the patients were comparable with those of the control subjects. However, the experiences of the patients tended to be longer and more monotonous. The patients often felt alert, oppressed, and disturbed by the experiences. They appeared to have the experiences under unpleasant mental or physical states. Their déjà vu experiences are not primarily different in nature from those of the nonclinical subjects. The decreased frequency of the experiences in the patients may suggest déjà vu experiences as nonpathologic phenomena.

Automatic control of arterial carbon dioxide tension in mechanically ventilated patients.

PubMed

Fernando, Tyrone; Cade, John; Packer, John

2002-12-01

This paper presents a method of controlling the arterial carbon dioxide tension of patients receiving mechanical ventilation. Controlling of the CO2 tension is achieved by regulating the ventilator initiated breath frequency and also volume per breath.

Associations between CD36 gene polymorphisms and susceptibility to coronary artery heart disease

PubMed Central

Zhang, Y.; Ling, Z.Y.; Deng, S.B.; Du, H.A.; Yin, Y.H.; Yuan, J.; She, Q.; Chen, Y.Q.

2014-01-01

Associations between polymorphisms of the CD36 gene and susceptibility to coronary artery heart disease (CHD) are not clear. We assessed allele frequencies and genotype distributions of CD36 gene polymorphisms in 112 CHD patients and 129 control patients using semi-quantitative polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) analysis. Additionally, we detected CD36 mRNA expression by real-time quantitative PCR, and we quantified plasma levels of oxidized low-density lipoprotein (ox-LDL) using an enzyme-linked immunosorbent assay (ELISA). There were no significant differences between the two groups (P>0.05) in allele frequencies of rs1761667 or in genotype distribution and allele frequencies of rs3173798. The genotype distribution of rs1761667 significantly differed between CHD patients and controls (P=0.034), with a significantly higher frequency of the AG genotype in the CHD group compared to the control group (P=0.011). The plasma levels of ox-LDL in patients with the AG genotype were remarkably higher than those with the GG and AA genotypes (P=0.010). In a randomized sample taken from patients in the two groups, the CD36 mRNA expression of the CHD patients was higher than that of the controls. In CHD patients, the CD36 mRNA expression in AG genotype patients was remarkably higher than in those with an AA genotype (P=0.005). After adjusted logistic regression analysis, the AG genotype of rs1761667 was associated with an increased risk of CHD (OR=2.337, 95% CI=1.336-4.087, P=0.003). In conclusion, the rs1761667 polymorphism may be closely associated with developing CHD in the Chongqing Han population of China, and an AG genotype may be a genetic susceptibility factor for CHD. PMID:25118627

Sex-dependent alterations in resting-state cerebral blood flow, amplitude of low-frequency fluctuations and their coupling relationship in schizophrenia.

PubMed

Ma, Xiaomei; Wang, Di; Zhou, Yujing; Zhuo, Chuanjun; Qin, Wen; Zhu, Jiajia; Yu, Chunshui

2016-04-01

We aimed to investigate sex-dependent alterations in resting-state relative cerebral blood flow, amplitude of low-frequency fluctuations and relative cerebral blood flow-amplitude of low-frequency fluctuations coupling in patients with schizophrenia. Resting-state functional magnetic resonance imaging and three-dimensional pseudo-continuous arterial spin labeling imaging were performed to obtain resting-state amplitude of low-frequency fluctuations and relative cerebral blood flow in 95 schizophrenia patients and 99 healthy controls. Sex differences in relative cerebral blood flow and amplitude of low-frequency fluctuations were compared in both groups. Diagnostic group differences in relative cerebral blood flow, amplitude of low-frequency fluctuations and relative cerebral blood flow-amplitude of low-frequency fluctuations coupling were compared in male and female subjects, respectively. In both healthy controls and schizophrenia patients, the males had higher relative cerebral blood flow in anterior brain regions and lower relative cerebral blood flow in posterior brain regions than did the females. Compared with multiple regions exhibiting sex differences in relative cerebral blood flow, only the left middle frontal gyrus had a significant sex difference in amplitude of low-frequency fluctuations. In the females, schizophrenia patients exhibited increased relative cerebral blood flow and amplitude of low-frequency fluctuations in the basal ganglia, thalamus and hippocampus and reduced relative cerebral blood flow and amplitude of low-frequency fluctuations in the frontal, parietal and occipital regions compared with those of healthy controls. However, there were fewer brain regions with diagnostic group differences in the males than in the females. Brain regions with diagnostic group differences in relative cerebral blood flow and amplitude of low-frequency fluctuations only partially overlapped. Only the female patients exhibited increased relative cerebral blood flow-amplitude of low-frequency fluctuations couplings compared with those of healthy females. The alterations in the relative cerebral blood flow and amplitude of low-frequency fluctuations in schizophrenia are sex-specific, which should be considered in future neuroimaging studies. The relative cerebral blood flow and amplitude of low-frequency fluctuations have different sensitivity in detecting changes in neuronal activity in schizophrenia and can provide complementary information. © The Royal Australian and New Zealand College of Psychiatrists 2015.

Development in pain and neurologic complaints after whiplash: a 1-year prospective study.

PubMed

Kasch, Helge; Bach, Flemming W; Stengaard-Pedersen, Kristian; Jensen, Troels S

2003-03-11

To prospectively examine the course of pain and other neurologic complaints in patients with acute whiplash injury and in controls with acute ankle injury. Patients with acute whiplash (n = 141) and ankle-injured controls (n = 40) were consecutively sampled, and underwent interview and examination after 1 week and 1, 3, 6, and 12 months. Outcome measures were pain intensity, pain frequency, and associated symptoms. Initial overall pain intensity above lower extremities (pain in neck, head, shoulder-arm, and low back) was similar in patients with whiplash (median Visual Analogue Scale [VAS](0-100) of 20 [25th and 75th percentile, 4, 39]) and ankle-injured controls (median VAS(0-100) of 15 [5, 34]). Whiplash-injured patients reported median overall VAS(0-100) pain intensity above lower extremities of 23 (12, 40) after 11 days and 14 (12, 40) after 1 year. Controls reported pain intensity of 0 (0, 4) after 12 days and 0 (0, 9) after 1 year. Reported overall pain frequency above lower extremities was 96% after 11 days and 74% after 1 year in whiplash-injured patients and 33% after 12 days and 47% after 1 year in controls. Associated neurologic symptoms were two to three times more common after whiplash injury. Correlation was found between pain intensity and associated symptoms in whiplash-injured patients but not controls. Pain occurs with high frequency but low intensity after whiplash and ankle injury. Associated neurologic symptoms were not correlated to pain in ankle-injured controls, but were correlated to pain in patients with whiplash injury. Persistent symptoms in whiplash-injured patients may be caused by both specific neck injury-related factors and nonspecific post-traumatic reactions. Disability was only encountered in the whiplash group.

Sarcopenia in diabetic nephropathy: a cross-sectional study.

PubMed

Çeliker, Meral; Selçuk, Mustafa Yavuz; Olt, Serdar

2018-06-01

To investigate the relationship between sarcopenia and diabetic nephropathy. 56 diabetic patients without complications, 50 diabetic patients with nephropathy, 53 healthy controls included in this present study. Demographic characteristics such as sex, age, anthropometric measurements such as weight, body mass index [BMI], hip circumference, waist circumference and upper arm circumference were measured. Sarcopenia diagnosis was based on European Working Group on Sarcopenia in Older People [EWGSOP] criteria which consist of hand grip strength, 6-meter walking test and muscle mass. The frequency of sarcopenia increased gradually from 15.1% in healthy control group to 21.4% in the diabetes group, and 34% in diabetic nephropathy group (X2 for trend, p = 0.029). The frequency of sarcopenia was similar in diabetes and diabetic nephropathy group. However, the frequency of sarcopenia was higher in diabetic nephropathy than healthy controls (OR = 2.89, CI [1.11-7.51] in logistic regression). In the present study, the prevalence of sarcopenia was higher in patients with diabetic nephropathy compared to healthy controls.

Disturbed functional connectivity within the left prefrontal cortex and sensorimotor areas predicts impaired cognitive speed in patients with first-episode schizophrenia.

PubMed

Krukow, Paweł; Jonak, Kamil; Karakuła-Juchnowicz, Hanna; Podkowiński, Arkadiusz; Jonak, Katarzyna; Borys, Magdalena; Harciarek, Michał

2018-05-30

This study aimed at identifying abnormal cortico-cortical functional connectivity patterns that could predict cognitive slowing in patients with schizophrenia. A group of thirty-two patients with the first-episode schizophrenia and comparable healthy controls underwent resting-state qEEG and cognitive assessment. Phase Lag Index (PLI) was applied as a connectivity index and the synchronizations were analyzed in six frequencies. Pairs of electrodes were grouped to separately cover frontal, temporal, central, parietal and occipital regions. PLI was calculated for intra-regional connectivity and between-regions connectivity. Computer version processing speed tests were applied to control for possible fluctuations in cognitive efficiency during the performance of the tasks. In the group of patients, in comparison to healthy controls, significantly higher PLI values were recorded in theta frequency, especially in the posterior areas and decreased PLI in low-alpha frequency within the frontal regions. Mean PLI in gamma frequency was also lower in the patients group. Regression analysis showed that lower intra-regional PLI for left frontal cortex and higher PLI within somatosensory cortex in theta band, together with the duration of untreated psychosis, proved to be significant predictors of impaired processing speed in first-episode patients. Our investigation confirmed that disrupted cortico-cortical synchronization contributes to cognitive slowing in schizophrenia. Copyright © 2018 Elsevier B.V. All rights reserved.

Objective Cough Frequency, Airway Inflammation, and Disease Control in Asthma.

PubMed

Marsden, Paul A; Satia, Imran; Ibrahim, Baharudin; Woodcock, Ashley; Yates, Lucy; Donnelly, Iona; Jolly, Lisa; Thomson, Neil C; Fowler, Stephen J; Smith, Jaclyn A

2016-06-01

Cough is recognized as an important troublesome symptom in the diagnosis and monitoring of asthma. Asthma control is thought to be determined by the degree of airway inflammation and hyperresponsiveness but how these factors relate to cough frequency is unclear. The goal of this study was to investigate the relationships between objective cough frequency, disease control, airflow obstruction, and airway inflammation in asthma. Participants with asthma underwent 24-h ambulatory cough monitoring and assessment of exhaled nitric oxide, spirometry, methacholine challenge, and sputum induction (cell counts and inflammatory mediator levels). Asthma control was assessed by using the Global Initiative for Asthma (GINA) classification and the Asthma Control Questionnaire (ACQ). The number of cough sounds was manually counted and expressed as coughs per hour (c/h). Eighty-nine subjects with asthma (mean ± SD age, 57 ± 12 years; 57% female) were recruited. According to GINA criteria, 18 (20.2%) patients were classified as controlled, 39 (43.8%) partly controlled, and 32 (36%) uncontrolled; the median ACQ score was 1 (range, 0.0-4.4). The 6-item ACQ correlated with 24-h cough frequency (r = 0.40; P < .001), and patients with uncontrolled asthma (per GINA criteria) had higher median 24-h cough frequency (4.2 c/h; range, 0.3-27.6) compared with partially controlled asthma (1.8 c/h; range, 0.2-25.3; P = .01) and controlled asthma (1.7 c/h; range, 0.3-6.7; P = .002). Measures of airway inflammation were not significantly different between GINA categories and were not correlated with ACQ. In multivariate analyses, increasing cough frequency and worsening FEV1 independently predicted measures of asthma control. Ambulatory cough frequency monitoring provides an objective assessment of asthma symptoms that correlates with standard measures of asthma control but not airflow obstruction or airway inflammation. Moreover, cough frequency and airflow obstruction represent independent dimensions of asthma control. Copyright © 2016 American College of Chest Physicians. Published by Elsevier Inc. All rights reserved.

Dynamics of heart rate variability in patients with type 2 diabetes mellitus during spinal anaesthesia: prospective observational study.

PubMed

Lee, Su Hyun; Lee, Dong Hoon; Ha, Dong Hoon; Oh, Young Jun

2015-10-08

Little is known about the changes in autonomic function during spinal anaesthesia in type 2 diabetic patients. The purpose of the study was to assess the influence of spinal anaesthesia on the heart rate variability in type 2 diabetic patients according to the glycated hemoglobin (HbA1c) level. Sixty-six patients who were scheduled for elective orthostatic lower limb surgery were assigned to three groups (n = 22, each) according to HbA1c; controlled diabetes mellitus (HbA1c < 7 %), uncontrolled diabetes mellitus (HbA1c > 7 %) and the control group. The heart rate variability was measured 10 min before (T0), and at10 min (T1), 20 min (T2) and 30 min (T3) after spinal anaesthesia. Before spinal anaesthesia, total, low-and high-frequency power were significantly lower in the uncontrolled diabetec group than in other group (p < 0.05). During spinal anaesthesia, total, low- and high-frequency powers were did not change in the uncontrolled diabetec group while the low-frequency power in the controlled diabetec group was significantly depressed (p < 0.05). The ratio of low-to high-frequency was comparable among the groups, while it was reduced at T1-2 than at T0 in all the groups. The blood pressures were higher in the uncontrolled diabetec group than in the other groups. Spinal anaesthesia had an influence on the cardiac autonomic modulation in controlled diabetec patients, but not in uncontrolled diabetec patients. There were no differences in all haemodynamic variables during an adequate level of spinal anaesthesia in controlled and uncontrolled type 2 DM. ClinicalTrials.gov NCT02137057.

Vitamin D receptor gene Alw I, Fok I, Apa I, and Taq I polymorphisms in patients with urinary stone.

PubMed

Seo, Ill Young; Kang, In-Hong; Chae, Soo-Cheon; Park, Seung Chol; Lee, Young-Jin; Yang, Yun Sik; Ryu, Soo Bang; Rim, Joung Sik

2010-04-01

To evaluate vitamin D receptor (VDR) gene polymorphisms in Korean patients so as to identify the candidate genes associated with urinary stones. Urinary stones are a multifactorial disease that includes various genetic factors. A normal control group of 535 healthy subjects and 278 patients with urinary stones was evaluated. Of 125 patients who presented stone samples, 102 had calcium stones on chemical analysis. The VDR gene Alw I, Fok I, Apa I, and Taq I polymorphisms were evaluated using the polymerase chain reaction-restriction fragment length polymorphism analysis. Allelic and genotypic frequencies were calculated to identify associations in both groups. The haplotype frequencies of the VDR gene polymorphisms for multiple loci were also determined. For the VDR gene Alw I, Fok I, Apa I, and Taq I polymorphisms, there was no statistically significant difference between the patients with urinary stones and the healthy controls. There was also no statistically significant difference between the patients with calcium stones and the healthy controls. A novel haplotype (Ht 4; CTTT) was identified in 13.5% of the patients with urinary stones and in 8.3% of the controls (P = .001). The haplotype frequencies were significantly different between the patients with calcium stones and the controls (P = .004). The VDR gene Alw I, Fok I, Apa I, and Taq I polymorphisms does not seem to be candidate genetic markers for urinary stones in Korean patients. However, 1 novel haplotype of the VDR gene polymorphisms for multiple loci might be a candidate genetic marker. Copyright 2010 Elsevier Inc. All rights reserved.

Characteristics of hand tremor and postural sway in patients with fetal-type Minamata disease.

PubMed

Iwata, Toyoto; Takaoka, Shigeru; Sakamoto, Mineshi; Maeda, Eri; Nakamura, Masaaki; Liu, Xiao-Jie; Murata, Katsuyuki

2016-01-01

About forty certified patients aged around 50 years old existed as living witnesses to fetal-type Minamata disease (methylmercury poisoning due to in utero exposure) in Minamata, Japan in 2006. Computerized hand tremor and postural sway tests with spectral analysis were conducted for 24 of them and in matched control subjects to examine the pathophysiological feature of neuromotor function. The tremor intensities of the patients with fetal-type Minamata disease were significantly larger than those of the 67 controls at every frequency band for both hands. In the patients, proportions for intensity at 1-6 Hz of both hands were larger, but those of the intensity at 6-10 Hz were smaller compared with the controls. The center frequency of a tremor was significantly lower in the patients than in the controls. Only eight males of the 24 patients were examined to evaluate postural sway because of extremely low scores in activities of daily living in the remaining. Most of the postural sway parameters obtained with eyes open and closed were significantly larger in the patients than in the male controls. Likewise, Romberg quotients of postural sway in anterior-posterior direction were significantly higher in the patients. In conclusion, the patients with fetal-type Minamata disease of our study showed a larger tremor of low frequency at less than 6 Hz and postural instability. Spectral analyses of computerized hand tremor and postural sway are suggested to be useful for assessing the pathophysiological change, related to a lesion of the cerebellum, resulting from prenatal methylmercury exposure.

Changes in pupil diameter are correlated with the occurrence of pareidolias in patients with dementia with Lewy bodies.

PubMed

Suzuki, Yumi; Hirayama, Kazumi; Shimomura, Tatsuo; Uchiyama, Makoto; Fujii, Hiromi; Mori, Etsuro; Nishio, Yoshiyuki; Iizuka, Osamu; Inoue, Ryusuke; Otsuki, Mika; Sakai, Shinya

2017-03-01

Pareidolias are visual illusions of meaningful objects, such as faces and animals, that arise from ambiguous forms embedded in visual scenes. Pareidolias and visual hallucinations have been suggested to have a common underlying neural mechanism in patients with dementia with Lewy bodies (DLB). The aim of the present study was to find an externally observable physiological indicator of pareidolias. Using a pareidolia test developed by Uchiyama and colleagues, we evoked pareidolias in patients with DLB and recorded the resultant changes in the diameters of their pupil. The time frequencies of changes in pupil diameters preceding pareidolic utterances and correct utterances by the patients, as well as correct utterances by healthy control participants, were analyzed by a fast Fourier transform program. The power at time frequencies of 0-0.46 Hz was found to be greatest preceding pareidolic utterances in patients with DLB, followed by that preceding correct utterances in control participants, followed by that preceding correct utterances in patients with DLB. When the changes in power preceding the utterance were greater than the median value of correct utterances by the control group, the frequency of pareidolic utterances was significantly greater than that of correct utterances and when the changes were the same as or lower than the median value, the frequency of correct utterances was significantly greater than that of pareidolic utterances. Greater changes in power preceding the utterance at time frequencies of 0-0.46 Hz may thus be an externally observable physiological indicator of the occurrence of pareidolias.

Changes in pupil diameter are correlated with the occurrence of pareidolias in patients with dementia with Lewy bodies

PubMed Central

Suzuki, Yumi; Hirayama, Kazumi; Shimomura, Tatsuo; Uchiyama, Makoto; Fujii, Hiromi; Mori, Etsuro; Nishio, Yoshiyuki; Iizuka, Osamu; Inoue, Ryusuke; Otsuki, Mika

2017-01-01

Pareidolias are visual illusions of meaningful objects, such as faces and animals, that arise from ambiguous forms embedded in visual scenes. Pareidolias and visual hallucinations have been suggested to have a common underlying neural mechanism in patients with dementia with Lewy bodies (DLB). The aim of the present study was to find an externally observable physiological indicator of pareidolias. Using a pareidolia test developed by Uchiyama and colleagues, we evoked pareidolias in patients with DLB and recorded the resultant changes in the diameters of their pupil. The time frequencies of changes in pupil diameters preceding pareidolic utterances and correct utterances by the patients, as well as correct utterances by healthy control participants, were analyzed by a fast Fourier transform program. The power at time frequencies of 0–0.46 Hz was found to be greatest preceding pareidolic utterances in patients with DLB, followed by that preceding correct utterances in control participants, followed by that preceding correct utterances in patients with DLB. When the changes in power preceding the utterance were greater than the median value of correct utterances by the control group, the frequency of pareidolic utterances was significantly greater than that of correct utterances and when the changes were the same as or lower than the median value, the frequency of correct utterances was significantly greater than that of pareidolic utterances. Greater changes in power preceding the utterance at time frequencies of 0–0.46 Hz may thus be an externally observable physiological indicator of the occurrence of pareidolias. PMID:28134631

Acute effects of Finnish sauna and cold-water immersion on haemodynamic variables and autonomic nervous system activity in patients with heart failure.

PubMed

Radtke, Thomas; Poerschke, Daniel; Wilhelm, Matthias; Trachsel, Lukas D; Tschanz, Hansueli; Matter, Friederike; Jauslin, Daniel; Saner, Hugo; Schmid, Jean-Paul

2016-04-01

The haemodynamic response to Finnish sauna and subsequent cold-water immersion in heart failure patients is unknown. Haemodynamic response to two consecutive Finnish sauna (80℃) exposures, followed by a final head-out cold-water immersion (12℃) was measured in 37 male participants: chronic heart failure (n = 12, 61.8 ± 9.2 years), coronary artery disease (n = 13, 61.2 ± 10.6 years) and control subjects (n = 12, 60.9 ± 8.9 years). Cardiac output was measured non-invasively with an inert gas rebreathing method prior to and immediately after the first sauna exposure and after cold-water immersion, respectively. Blood pressure was measured before, twice during and after sauna. The autonomic nervous system was assessed by power spectral analysis of heart rate variability. Total power, low-frequency and high-frequency components were evaluated. The low frequency/high frequency ratio was used as a marker of sympathovagal balance. Sauna and cold-water immersion were well tolerated by all subjects. Cardiac output and heart rate significantly increased in all groups after sauna and cold-water immersion (p < 0.05), except for coronary artery disease patients after sauna exposure. Systolic blood pressure during sauna decreased significantly in all groups with a nadir after 6 min (all p < 0.05). Cold-water immersion significantly increased systolic blood pressure in all groups (p < 0.05). No change in the low/high frequency ratio was found in chronic heart failure patients. In coronary artery disease patients and controls a prolonged increase in low frequency/high frequency ratio was observed after the first sauna exposure. Acute exposure to Finnish sauna and cold-water immersion causes haemodynamic alterations in chronic heart failure patients similarly to control subjects and in particular did not provoke an excessive increase in adrenergic activity or complex arrhythmias. © The European Society of Cardiology 2015.

[Association study between 834+7G/A and +1332C/T polymorphisms in the growth arrest specific 6 gene and risk of severe preeclampsia in Chinese population].

PubMed

Ye, Liyan; Guan, Linbo; Fan, Ping; Liu, Xinghui; Liu, Rui; Chen, Jinxin; Zhu, Yue; Wei, Xin; Liu, Yu; Bai, Huai

2017-02-10

To investigate the relationship between polymorphisms of the growth arrest specific 6 (GAS6) gene and severe preeclampsia in a South West Han Chinese population. Blood samples from 167 patients with severe preeclampsia and 312 normal pregnant women as controls from Han Chinese in Chengdu area were analyzed by polymerase chain reaction-restriction fragment length polymorphisms. C and T allele frequencies for +1332C/T site were 85.63% and 14.37% in the patient group, respectively, and 78.04% and 21.96% in control group, respectively. The TT genotype and variant T allelic frequencies of the +1332C/T polymorphism were significantly lower in patients with severe preeclampsia than in the control group (both P<0.05), and the odds ratio for the risk of severe preeclampsia was 0.602 (95%CI: 0.401-0.904) in carriers for the variant T allele (χ 2 =6.045, P=0.014). G and A allele frequencies for 834+7G/A site were 72.75% and 27.25% in case group, respectively, and 74.36% and 25.64% in control group, respectively. The genotype and allele frequencies of the 834+7G/A polymorphism in patients with severe preeclampsia and controls showed no significant differences (both P>0.05). In addition, there was no significant association between the polymorphisms and blood pressure levels in the patient or control groups. The variant GAS6+1332 T allele is associated with a decreased risk for severe preeclampsia in a South West Han Chinese population. On the other hand, the 834+7G/A polymorphism has no effect on the severe preeclampsia.

Activity of daily living for Morquio A syndrome.

PubMed

Yasuda, Eriko; Suzuki, Yasuyuki; Shimada, Tsutomu; Sawamoto, Kazuki; Mackenzie, William G; Theroux, Mary C; Pizarro, Christian; Xie, Li; Miller, Freeman; Rahman, Tariq; Kecskemethy, Heidi H; Nagao, Kyoko; Morlet, Thierry; Shaffer, Thomas H; Chinen, Yasutsugu; Yabe, Hiromasa; Tanaka, Akemi; Shintaku, Haruo; Orii, Kenji E; Orii, Koji O; Mason, Robert W; Montaño, Adriana M; Fukao, Toshiyuki; Orii, Tadao; Tomatsu, Shunji

2016-06-01

The aim of this study was to evaluate the activity of daily living (ADL) and surgical interventions in patients with mucopolysaccharidosis IVA (MPS IVA). The factor(s) that affect ADL are age, clinical phenotypes, surgical interventions, therapeutic effect, and body mass index. The ADL questionnaire comprises three domains: "Movement," "Movement with cognition," and "Cognition." Each domain has four subcategories rated on a 5-point scale based on the level of assistance. The questionnaire was collected from 145 healthy controls and 82 patients with MPS IVA. The patient cohort consisted of 63 severe and 17 attenuated phenotypes (2 were undefined); 4 patients treated with hematopoietic stem cell transplantation (HSCT), 33 patients treated with enzyme replacement therapy (ERT) for more than a year, and 45 untreated patients. MPS IVA patients show a decline in ADL scores after 10years of age. Patients with a severe phenotype have a lower ADL score than healthy control subjects, and lower scores than patients with an attenuated phenotype in domains of "Movement" and "Movement with cognition." Patients, who underwent HSCT and were followed up for over 10years, had higher ADL scores and fewer surgical interventions than untreated patients. ADL scores for ERT patients (2.5years follow-up on average) were similar with the-age-matched controls below 10years of age, but declined in older patients. Surgical frequency was higher for severe phenotypic patients than attenuated ones. Surgical frequency for patients treated with ERT was not decreased compared to untreated patients. In conclusion, we have shown the utility of the proposed ADL questionnaire and frequency of surgical interventions in patients with MPS IVA to evaluate the clinical severity and therapeutic efficacy compared with age-matched controls. Copyright © 2016. Published by Elsevier Inc.

Diminution of Heart Rate Variability in Bipolar Depression

PubMed Central

Hage, Brandon; Britton, Briana; Daniels, David; Heilman, Keri; Porges, Stephen W.; Halaris, Angelos

2017-01-01

Autonomic nervous system (ANS) dysregulation in depression is associated with symptoms associated with the ANS. The beat-to-beat pattern of heart rate defined as heart rate variability (HRV) provides a noninvasive portal to ANS function and has been proposed to represent a means of quantifying resting vagal tone. We quantified HRV in bipolar depressed (BDD) patients as a measure of ANS dysregulation seeking to establish HRV as a potential diagnostic and prognostic biomarker for treatment outcome. Forty-seven BDD patients were enrolled. They were randomized to receive either escitalopram–celecoxib or escitalopram-placebo over 8 weeks in a double-blind study design. Thirty-five patients completed the HRV studies. Thirty-six healthy subjects served as controls. HRV was assessed at pretreatment and end of study and compared with that of controls. HRV was quantified and corrected for artifacts using an algorithm that incorporates time and frequency domains to address non-stationarity of the beat-to-beat heart rate pattern. Baseline high frequency-HRV (i.e., respiratory sinus arrhythmia) was lower in BDD patients than controls, although the difference did not reach significance. Baseline low-frequency HRV was significantly lower in BDD patients (ln4.20) than controls (ln = 5.50) (p < 0.01). Baseline heart period was significantly shorter (i.e., faster heart rate) in BDD patients than controls. No significant change in HRV parameters were detected over the course of the study with either treatment. These findings suggest that components of HRV may be diminished in BDD patients. PMID:29270399

Multichannel linear descriptors analysis for event-related EEG of vascular dementia patients during visual detection task.

PubMed

Lou, Wutao; Xu, Jin; Sheng, Hengsong; Zhao, Songzhen

2011-11-01

Multichannel EEG recorded in a task condition could contain more information about cognition. However, that has not been widely investigated in the vascular-dementia (VaD)- related studies. The purpose of this study was to explore the differences of brain functional states between VaD patients and normal controls while performing a detection task. Three multichannel linear descriptors, i.e. spatial complexity (Ω), field strength (Σ) and frequency of field changes (Φ), were applied to analyse four frequency bands (delta, theta, alpha and beta) of multichannel event-related EEG signals for 12 VaD patients (mean age ± SD: 69.25 ± 10.56 years ; MMSE score ± SD: 22.58 ± 4.42) and 12 age-matched healthy subjects (mean age ± SD: 67.17 ± 5.97 years ; MMSE score ± SD: 29.08 ± 0.9). The correlations between the three measures and MMSE scores were also analysed. VaD patients showed a significant higher Ω value in the delta (p = 0.013) and theta (p = 0.021) frequency bands, a lower Σ value (p = 0.011) and a higher Φ (p = 0.008) value in the delta frequency band compared with normal controls. The MMSE scores were negatively correlated with the Ω (r = -0.52, p = 0.01) and Φ (r = -0.47, p = 0.02) values in the delta frequency band. The results indicated the VaD patients presented a reduction of synchronization in the slow frequency band during target detection, and suggested more neurons might be activated in VaD patients compared with normal controls. The Ω and Φ measures in the delta frequency band might be used to evaluate the degree of cognitive dysfunction. The multichannel linear descriptors are promising measures to reveal the differences in brain functions between VaD patients and normal subjects, and could potentially be used to evaluate the degree of cognitive dysfunction in VaD patients. Copyright © 2011 International Federation of Clinical Neurophysiology. Published by Elsevier Ireland Ltd. All rights reserved.

[Increased expressions of peripheral PD-1+ lymphocytes and CD4+CD25+FOXP3+ T cells in gastric adenocarcinoma patients].

PubMed

Li, Hao; Li, Songyan; Hu, Shidong; Zou, Guijun; Hu, Zilong; Wei, Huahua; Wang, Yufeng; Du, Xiaohui

2017-01-01

Objective To detect the frequencies of peripheral programmed death-1 + (PD-1 + ) lymphocytes and CD4 + CD25 + FOXP3 + regulatory T cells in patients with gastric adenocarcinoma. Methods The study enrolled 29 patients with gastric adenocarcinoma and 29 age- and sex-matched healthy controls. Frequencies of PD-1 + lymphocytes and CD4 + CD25 + FOXP3 + regulatory T cells were detected using flow cytometry. Results The number of PD-1 + lymphocytes and CD4 + CD25 + FOXP3 + regulatory T cells in peripheral blood was higher in patients with gastric adenocarcinoma than that in the control group. Moreover, linear correlation analysis indicated a positive correlation between PD-1 expression and frequency of CD4 + CD25 + FOXP3 + regulatory T cells in peripheral blood of the patients. Conclusion Gastric adenocarcinoma patients present with increased PD-1 + lymphocytes and CD4 + CD25 + FOXP3 + regulatory T cells in the peripheral blood.

Toll like receptor7 polymorphisms in relation to disease susceptibility and progression in Chinese patients with chronic HBV infection.

PubMed

Zhu, Junping; Zhang, Tong; Cao, Lina; Li, Aixin; Zheng, Kai; Zhang, Nan; Su, Bin; Chen, Zhiyun; Chen, Ning; Wu, Hao; He, Qiushui

2017-09-29

Toll-like receptors (TLRs) play a key role in innate and adaptive immunity, protecting the host from viral pathogens. We studied the effect of TLR7 polymorphisms on disease susceptibility and progression of chronic hepatitis B (CHB) infection in Chinese adults. Blood samples were taken from 612 patients with confirmed CHB, hepatitis B virus (HBV)-related liver cirrhosis (LC) or hepatocellular carcinoma (HCC) and 293 controls. TLR7 polymorphisms (rs179010-C > T, rs2074109-T > C, and rs179009-A > G) were analyzed by PCR-based sequencing. A significantly higher frequency of TLR7 rs179010 C allele was found in male CHB patients than in controls (74.8% vs 59.5%, P = 0.002). The frequency of rs179009 G allele was markedly increased with disease progression when male patients with CHB, LC and HCC were compared (P = 0.012). The haplotype CTA was significantly associated with an increased susceptibility to CHB among male patients (P = 0.000). Frequency of the haplotype CTG was higher in male patients with HCC than CHB (P = 0.005). No such differences in these allele frequencies were found between female patients and controls. Our results indicated that TLR7 polymorphisms play an important role in disease susceptibility and the progression of CHB infections in Chinese adults, and may partly explain the high incidence of HBV related diseases in Chinese men.

Dream recall frequency and content in patients with temporal lobe epilepsy.

PubMed

Bentes, Carla; Costa, João; Peralta, Rita; Pires, Joana; Sousa, Paula; Paiva, Teresa

2011-11-01

To evaluate morning dream recall frequency and content in patients with temporal lobe epilepsy (TLE). Fifty-two patients with pharmacoresistant TLE submitted to a written dream diary during five consecutive days and continuous video-electroencephalographic (video-EEG) monitoring. A matched control group of 41 healthy subjects completed the same diary at home. The number of recalled dreams (including long dreams) and nonrecalled dream mentation were collected, and the Dream Recall Rate (DRR) was calculated. Hall and Van de Castle dream content analysis was performed. Greater than 70% of patients with TLE (37 of 52) recall their dreams, but DRR rate in these patients is lower than in controls (p ≤ 0.001). Dream recall does not appear to be influenced by the presence of neuropsychological deficits nor seizure frequency. In dreams descriptions, TLE patients (vs. controls) have a higher percentage of familiarity in settings and fewer dreams with at least one success. Onirical activity of patients with TLE is different from that of healthy subjects. Our results support the role of mesial and neocortical temporal structures in dream experience. The selective activation of dysfunctional mesial structures may be responsible for some of the observed variability. However, dream content changes can also mirror social and psychological comorbidities of patients with epilepsy. Wiley Periodicals, Inc. © 2011 International League Against Epilepsy.

[Effects of COPD on cognitive functions: a case control study].

PubMed

Sarınç Ulaşlı, Sevinç; Oruç, Serdar; Günay, Ersin; Aktaş, Orçun; Akar, Olcay; Koyuncu, Tülay; Ünlü, Mehmet

2013-01-01

Assessment of disease severity, effects of disease on health status and future events should be considered to direct treatment strategies in chronic obstructive pulmonary disease (COPD) management. Although extrapulmonary effects of COPD are well known, effects of COPD on cognitive functions have not been evaluated sufficiently. therefore we aimed to determine cognitive functions of copd patients in the present study. 112 COPD patients with moderate, severe and very severe irreversible airway obstruction and 44 age matched healthy subjects without COPD and systemic diseases as control group were enrolled to the study. Mini mental state examination (MMSE) was performed to evaluate cognitive functions. MMSE results were compared between patient and control groups. Moreover relationship between exacerbation frequency and cognitive functions was evaluated. Total 156 subjects as 112 COPD patients and 44 healthy subjects were included to the study. Mean age of COPD patients was 65.03 ± 7.63 years, and mean age of control group was 63.63 ± 8.96 years (p= 0.364). Mean score of MMSE in COPD patients was 23.8 ± 4.39, and mean score of MMSE in control group was 26.7 ± 2.88. We determined a significant difference in terms of MMSE scores betweeen patient and control group (p< 0.0001). MMSE scores and FEV1 values were significantly different among patients with moderate, sevre and very severe airflow obstruction (p= 0.001; p< 0.0001 respectively). We found a significant negative correlation between MMSE results and exacerbation frequency during last year (p= 0.003; r= -0.239). Lower MMSE scores of COPD patients than subjects in control group indicates the impairment of cognitive functions in COPD patients. Moreover a negative relationship between MMSE scores with exacerbation frequency during last year suggests that prevention from exacerbation can decrease cognitive impairment in COPD patients. We believe that assessment of cognitive functions and preventive strategies should be considered in COPD management.

Influence of the HLA class II polymorphism in chronic Chagas' disease.

PubMed

Fernandez-Mestre, M T; Layrisse, Z; Montagnani, S; Acquatella, H; Catalioti, F; Matos, M; Balbas, O; Makhatadze, N; Dominguez, E; Herrera, F; Madrigal, A

1998-04-01

Chagas' disease or American trypanosomiasis due to Trypanosoma cruzi has existed at least since the time of the Inca empire and contributes significantly to cardiovascular morbidity and mortality in several countries of this continent. Due to the fundamental role of human class II molecules polymorphic residues in the control of the immune response, a study was designed to define by DNA typing HLA class II alleles in a sample of 67 serologically positive individuals with and without cardiomyopathy and in 156 healthy controls of similar ethnic origin. Genomic DNA extraction, PCR amplification of the HLA-DRB1 and DQB1 second exon regions and hybridization to labelled specific probes were carried out following the 11th International Histocompatibility Workshop reference protocol. Comparison of DRB1 and DQB1 allele frequencies among the patients and control subjects showed a decreased frequency of DRB1*14 and DQB1*0303 in the patients, suggesting independent protective effects to the chronic infection in this population. Allele frequencies comparison between patients with and without cardiomyopathy showed a higher frequency of DRB1*01, DRB1*08 and DQB1*0501 and a decreased frequency of DRB1*1501 in the patients with arrhythmia and congestive heart failure. The results suggest that HLA Class II genes may be associated with the development of a chronic infection and with heart damage in Chagas' disease.

[Association of the cocaine and amphetamine-regulated transcript gene with type 2 diabetes mellitus].

PubMed

Fu, Mao; Cheng, Hua; Chen, Lihong; Wu, Bin; Cai, Mengyin; Xie, Ding; Fu, Zuzhi

2002-12-01

To investigate whether genetic variation in cocaine and amphetamine-regulated transcript (CART) gene might contribute to the genesis of type 2 diabetes. Screening for mutations in the entire coding region for the CART gene were performed with polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) in 180 normoglycemic control subjects and 221 patients with type 2 diabetes. (1) Adenine deletion was identified at position 1,457 nucleotide located at untranslation area of exon 3. In normal weight control, the frequencies of CART-A + and CART-A-alleles were 83.6% and 16.4% respectively. The frequencies of CART-A + A +, A + A-, A-A- genotype were 68.9%, 29.4% and 1.7% respectively. (2) In diabetic patients, the frequencies of CART-A + and A-alleles were 84.6% and 15.4% respectively; the frequencies of CART-A + A +, A + A-, A-A- genotype were 71.9%, 25.3% and 2.7% respectively. The frequency of A deletion of the CART gene in diabetic patients did not differ significantly from normoglycemic control subjects. (3) Diabetic patients with the A deletion had increased total cholesterol, low-density lipoprotein cholesterol and high-density lipoprotein cholesterol. Polymorphism was found in the 3'-untranslated region (Delta A1457) of CART in Chinese. A deletion in CART is not associated with type 2 diabetes, but may contribute to dyslipidemia.

[Association between the C46T polymorphism of coagulation factor Ⅻ gene and the involvement of factor Ⅻ activity in patients with unexplained recurrent spontaneous abortion].

PubMed

Jin, Y H; Shen, X L; Wang, M S; Xu, X M; Liu, M N; Zhao, Z S; Zheng, J Y

2016-08-25

To explore the association between the C46T polymorphism of coagulation factor Ⅻ (FⅫ) gene and the involvement of FⅫ activity (FⅫ:C) in patients with unexplained recurrent spontaneous abortion (URSA), and to elucidate its role in the pathogenesis of URSA. This study included 203 patients with URSA (URSA group) and 171 healthy women with at least one child and no history of infertility or miscarriage (control group) in the southern area of Zhejiang Province. The C46T polymorphism of the FⅫ gene was analyzed with matrix-assisted laser desorption/ionization time of flight-mass spectrometry (MALDI-TOF-MS) in all subjects. The values of prothrombin time, activated partial thromboplastin time (APTT), fibrinogen, FⅫ:C and other coagulant parameters were determined. The frequency distribution of the wild-type (CC), heterozygote (CT), homozygote (TT) genotypes and C and T alleles were compared between the patients and controls. A comprehensive analysis of association was conducted between C46T genotypes and the FⅫ:C levels in URSA patients. The CC, CT, TT genotypes of the FⅫ gene were observed in 7 (3.4%, 7/203), 83 (40.9%, 83/203) and 113 (55.7%, 113/203) patients with URSA versus 7 (4.1%, 7/171), 46 (26.9%, 46/171) and 118 (69.0%, 118/171) controls. The frequency of CT in the patients with URSA was significantly higher than that in controls, but the frequency of TT in the patients was lower than that in controls (χ(2)=7.939, OR=1.884, 95%CI: 1.210-2.935, P<0.05). The frequencies of allele C and allele T were observed in 97 (23.9%, 97/406) and 309 (76.1%, 309/406) patients with URSA versus 60 (17.5%, 60/342) and 282 (82.5%, 282/342) controls. The distribution frequency of allele T in URSA group was lower than that in control group (χ(2)=4.510, OR=1.475, 95%CI: 1.029-2.115, P<0.05). The FⅫ: C levels in the patients were (102±13)% in CC genotype, (78±11)% in CT genotype and (59±9)% in TT genotype, respectively. The differences of the FⅫ: C levels between the CC and CT, CT and TT, CC and TT genotypes in the patients were significant (all P<0.05). The low level of FⅫ:C maybe result from the T allele of the FⅫ gene in URSA patients. The CT genotype might be relative to the pathogenesis of URSA in a Chinese Han female population from the southern area of Zhejiang province.

Voice characteristics in the progression of Parkinson's disease.

PubMed

Holmes, R J; Oates, J M; Phyland, D J; Hughes, A J

2000-01-01

This study examined the acoustic and perceptual voice characteristics of patients with Parkinson's disease according to disease severity. The perceptual and acoustic voice characteristics of 30 patients with early stage PD and 30 patients with later stage PD were compared with data from 30 normal control subjects. Voice recordings consisted of prolongation of the vowel /a/, scale singing, and a 1-min monologue. In comparison with controls and previously published normative data, both early and later stage PD patients' voices were characterized perceptually by limited pitch and loudness variability, breathiness, harshness and reduced loudness. High modal pitch levels also characterized the voices of males in both early and later stages of PD. Acoustically, the voices of both groups of PD patients demonstrated lower mean intensity levels and reduced maximum phonational frequency ranges in comparison with normative data. Although less clear, the present data also suggested that the PD patients' voices were characterized by excess jitter, a high-speaking fundamental frequency for males and a reduced fundamental frequency variability for females. While several of these voice features did not appear to deteriorate with disease progression (i.e. harshness, high modal pitch and speaking fundamental frequency in males, fundamental frequency variability in females, low intensity and jitter), breathiness, monopitch and monoloudness, low loudness and reduced maximum phonational frequency range were all worse in the later stages of PD. Tremor was the sole voice feature which was associated only with later stage PD.

Frequencies and role of regulatory T cells in patients with (pre)malignant cervical neoplasia

PubMed Central

Visser, J; Nijman, H W; Hoogenboom, B-N; Jager, P; van Baarle, D; Schuuring, E; Abdulahad, W; Miedema, F; van der Zee, A G; Daemen, T

2007-01-01

Oncogenic human papillomavirus (HPV)-infection is crucial for developing cervical cancer and its precursor lesions [cervical intraepithelial neoplasia (CIN)]. Regulatory T cells (Tregs) might be involved in the failure of the immune system to control the development of HPV-induced cancer. We investigated frequencies, phenotype and activity of Tregs in patients with cervical neoplasia. CIN and cervical cancer patients showed increased CD4+/CD25high T cell frequencies in peripheral blood and CD4+ T cell fraction. These CD4+/CD25high T cells represent Tregs as demonstrated by their low proliferation rate, low interferon (IFN)-γ/interleukin (IL)-10 ratio, high expression of CD45RO, GITR, CTLA-4, forkhead box P3 (FoxP3) and low CD45RA expression. Moreover, in HPV16+ cervical cancer patients, in-vitro depletion of CD25+ T cells resulted in increased IFN-γ T cell responses against HPV16 E6- and E7 peptides. Thus, increased frequencies of Tregs in cervical cancer patients may indeed suppress HPV-specific immunity. Longitudinal analysis of CD4+/CD25high T cell frequencies in patients showed a modest decline 1 year after curative surgery or chemoradiation. This study demonstrates increased frequencies and suppressive activity of Tregs in cervical cancer. These results imply that Tregs may suppress the immune control of cervical neoplasia and furthermore that suppression of immunity by Tregs will be another hurdle to overcome in therapeutic immunization strategies against cervical neoplasia. PMID:17937675

Gamma frequency SSVEP components differentiate children with febrile seizures from normal controls.

PubMed

Birca, Ala; Carmant, Lionel; Lortie, Anne; Vannasing, Phetsamone; Lassonde, Maryse

2008-11-01

Gamma band electroencephalography (EEG) abnormalities have been reported in patients with epilepsy. We aimed to investigate whether patients with febrile seizures (FS) show abnormalities of the gamma frequency steady-state visual evoked potential (SSVEP) components evoked by intermittent photic stimulation (IPS). We analyzed the magnitude and phase alignment of the 50-100 Hz SSVEP components elicited by IPS from 12 FS patients, 5 siblings of FS patients, and 15 control children between 6 and 36 months of age. Patients with FS showed significantly higher SSVEP magnitude and phase alignment values when compared to both the siblings and control groups. Detected abnormalities could either represent the direct consequence of seizures or indicate a preexisting tendency to hypersynchrony in FS patients. Future prospective studies could assess whether SSVEP abnormalities are associated with complex rather than simple FS, or have a prognostic value for the development of epilepsy following FS.

Functional and structural aspects of tinnitus-related enhancement and suppression of auditory cortex activity.

PubMed

Diesch, Eugen; Andermann, Martin; Flor, Herta; Rupp, Andre

2010-05-01

The steady-state auditory evoked magnetic field was recorded in tinnitus patients and controls, both either musicians or non-musicians, all of them with high-frequency hearing loss. Stimuli were AM-tones with two modulation frequencies and three carrier frequencies matching the "audiometric edge", i.e. the frequency above which hearing loss increases more rapidly, the tinnitus frequency or the frequency 1 1/2 octaves above the audiometric edge in controls, and a frequency 1 1/2 octaves below the audiometric edge. Stimuli equated in carrier frequency, but differing in modulation frequency, were simultaneously presented to the two ears. The modulation frequency-specific components of the dual steady-state response were recovered by bandpass filtering. In both hemispheres, the source amplitude of the response was larger for contralateral than ipsilateral input. In non-musicians with tinnitus, this laterality effect was enhanced in the hemisphere contralateral and reduced in the hemisphere ipsilateral to the tinnitus ear, especially for the tinnitus frequency. The hemisphere-by-input laterality dominance effect was smaller in musicians than in non-musicians. In both patient groups, source amplitude change over time, i.e. amplitude slope, was increasing with tonal frequency for contralateral input and decreasing for ipsilateral input. However, slope was smaller for musicians than non-musicians. In patients, source amplitude was negatively correlated with the MRI-determined volume of the medial partition of Heschl's gyrus. Tinnitus patients show an altered excitatory-inhibitory balance reflecting the downregulation of inhibition and resulting in a steeper dominance hierarchy among simultaneous processes in auditory cortex. Direction and extent of this alteration are modulated by musicality and auditory cortex volume. 2010 Elsevier Inc. All rights reserved.

High frequency of DD polymorphism of the angiotensin-converting enzyme gene in Turkish asthmatic patients.

PubMed

Urhan, Meral; Degirmenci, Irfan; Harmanci, Emel; Gunes, Hasan V; Metintas, Muzaffer; Basaran, Ayse

2004-01-01

The aim of this study is to detect the incidence of the angiotensin-converting enzyme (ACE) gene polymorphism in Turkish asthmatic patients and to examine whether there is an association between the disease and ACE gene polymorphism. In our study, the genomic DNA of 100 asthmatic patients and 88 healthy subjects was analyzed Genomic DNA was isolated from peripheral blood by using standard methods. The intron 16 of the ACE gene was amplified by the polymerase chain reaction (PCR) method using primers ACE and ACEX to examine the presence and absence of a 287-base pair (bp) DNA fragment that showed I/D polymorphism genotypes. PCR products were separated by agarose gel electrophoresis and were visualized by a charge-coupled device camera. Serum ACE activities were measured using an ACE kit. The results were evaluated statistically using the chi-square test and one-way analysis of variance. Although the population of patients with asthma was characterized by a higher frequency (30%) of the DD genotype of ACE, they were characterized by lower frequency (48%) of the ID genotype of ACE (DD, 16%, and ID, 64%, in healthy control subjects). The frequency of the I and D alleles of the ACE gene was not significantly different between asthmatic patients (0.46/0.54) and healthy controls (0.52/ 0.48). In addition, in both asthmatic patients and controls, there was a significant decrease of the levels of ACE activity in individuals that have II genotypes when compared with individuals that have DD genotypes. ACE activities were increased significantly in all asthmatic patients (67.20 +/- 1.95 IU/L) compared with all healthy controls (60.90 +/- 2.12 IU/L).

Epilepsy Surgery: An Evidence Summary

PubMed Central

2012-01-01

Background The Medical Advisory Secretariat, the predecessor of Health Quality Ontario, published an evidence-based analysis on functional brain imaging. This analysis highlighted the low uptake of epilepsy surgery in Ontario and internationally. Objective The objective of this analysis was to review the effectiveness of epilepsy surgery at reducing seizure frequency, as well as the safety of epilepsy surgery. Data Sources The literature search included studies published between January 1995 and March 2012. Search terms included epilepsy, surgery, resection, safety, and complications. Review Methods Studies were eligible for inclusion if they included at least 20 patients undergoing surgery; had a comparison group of patients with epilepsy who were not undergoing surgery; and reported follow-up periods of at least 1 year. Outcomes of interest included seizure frequency and complications associated with surgery. Results Six systematic reviews reported pooled seizure-free rates that ranged from 43% to 75%. Two randomized controlled trials compared the effectiveness of epilepsy surgery with no surgery in patients with drug-refractory epilepsy. Both trials reported significant improvements in the seizure frequency in the surgery group compared with the nonsurgery group. Eight retrospective cohort studies reported on the safety of epilepsy surgery. Of the 2,725 patients included in these studies, there were 3 deaths reportedly related to surgery. Other complications included hemiparesis, infection, and visual field defects. The studies had long follow-up periods ranging from a mean of 2 to 7 years. Limitations The most recent randomized controlled trial was stopped early due to slow enrolment rates. Thus results need to be interpreted with caution. Conclusions There is high quality evidence that epilepsy surgery is effective at reducing seizure frequency. Two randomized controlled trials compared surgery to no surgery in patients with drug-refractory epilepsy. Both demonstrated significant reductions in seizure frequency. There are some complications associated with epilepsy surgery. In the published literature identified, we observed a 0.1% mortality rate associated with the surgery. Plain Language Summary About 30% of patients with epilepsy continue to have seizures despite optimal drug treatment. In some of these patients, surgery to control the number of seizures may be an option. Patients are carefully selected based on frequency of seizures, location of seizure in the brain, and type of seizures. There is good evidence to indicate that surgery is an effective and safe option for some patients with drug-refractory epilepsy. PMID:23074427

Nightmare frequency in adults with attention-deficit hyperactivity disorder.

PubMed

Schredl, Michael; Bumb, J Malte; Alm, Barbara; Sobanski, Esther

2017-02-01

Nightmare frequency in adult ADHD patients has not yet been studied systematically. In a sample of 65 patients, it could be shown that nightmare frequency was elevated in ADHD patients compared to a sample representative for Germany. Frequent nightmares (once a week or more often) were reported by 4.62 % of the patients and 1.77 % of the controls. This increase was neither explained by the increased dream recall in general nor by the presence of a comorbid mental disorder. Questions about nightmares should be included in the diagnostic procedures for ADHD patients, and it should be tested whether well-established nightmare treatment strategies like imagery rehearsal treatment might be beneficial to those patients with nightmares.

Frequency of and risk factors for symptomatic bone fractures in patients with systemic lupus erythematosus.

PubMed

Ekblom-Kullberg, S; Kautiainen, H; Alha, P; Leirisalo-Repo, M; Julkunen, H

2013-01-01

To study risk factors for symptomatic bone fractures in patients with systemic lupus erythematosus (SLE) and to compare the frequency of fractures between SLE patients and population controls. The study included 222 SLE patients [mean age 47.0 years, disease duration 13.1 years, 204 (92%) women] and 720 population controls living in the metropolitan area of Helsinki. The history of symptomatic bone fractures in SLE patients and controls was recorded by interview, and demographic and clinical data of SLE patients were obtained by interview, clinical examination, and chart review. A history of at least one symptomatic bone fracture was recorded in 93 (42%) of all 222 patients with SLE. The risk of any fracture in 204 women with SLE compared to controls was 1.8 [95% confidence interval (CI) 1.3-2.4] and fractures in the ankle, hip, and vertebral column were more common than in female controls, with odds ratios (ORs) of 2.0 (95% CI 1.1-3.7), 5.1 (95% CI 1.2-21.5), and 4.0 (95% CI 1.8-8.6), respectively. In 18 men with SLE, compared to male controls, no difference in the frequency of fractures was observed (OR 0.7, 95% CI 0.3-2.0). Risk factors for bone fractures in women with SLE were age (p = 0.008), comorbidity (p = 0.050), and the duration of corticosteroid use (p = 0.025). Symptomatic bone fractures, especially in the ankle, hip, and vertebral column, are common in women with SLE. Special attention should be paid to preventing fractures in elderly female patients with comorbidities and a long duration of corticosteroid use.

Obstructive sleep apnea in epilepsy: a preliminary Egyptian study.

PubMed

Shaheen, Hala A; Abd El-Kader, Ann A; El Gohary, Amira M; El-Fayoumy, Neveen M; Afifi, Lamia M

2012-09-01

The extent and clinical relevance of the association between epilepsy and sleep apnea are not previously studied in Egypt. What we wanted to know was the frequency of sleep apnea in Egyptian children with epilepsy and its influence on seizure frequency, other seizure characteristics, sleep complaint, and architecture. All patients with epilepsy, aged up to 18 years, who underwent polysomnography were studied. Patients with any neurological disease apart from epilepsy, with psychiatric illness, had hypnotics, or sedatives or those with liver or kidney failure were excluded from the study. The patients were divided into two subgroups according to apnea/hypopnea index: group (1) patients without obstructive sleep apnea (OSA) and group (2) patients with OSA. For control group, we choose 12 healthy individuals, with age and sex matched to that of our patients. We studied the clinical characteristics of epilepsy, sleep history, and polysomnographic recording of the patients with epilepsy and the control. EEG digital and video monitoring was done for all patients. Eleven patients (42.3%) were found to have obstructive sleep apnea. Seizure frequency was significantly higher in the patients with OSA. Apart from apnea and hypopnea indices, all other sleep parameters did not differ between patients' subgroups. Hypopnea index in REM positively correlates with number of awaking. Apnea index in REM positively correlates with latency to deep sleep and to periodic leg movement. Sleep apnea is frequent in patients with epilepsy. OSA may contribute to increase seizure frequency. We recommend investigating sleep apnea in all patients with epilepsy.

Association study of dopamine D3 receptor gene and schizophrenia

DOE Office of Scientific and Technical Information (OSTI.GOV)

Kennedy, J.L.; Billett, E.A.; Macciardi, F.M.

Several groups have reported an association between schizophrenia and the MscI polymorphism in the first exon of the dopamine D3 receptor gene (DRD3). We studied this polymorphism using a North American sample (117 patients plus 188 controls) and an Italian sample (97 patients plus 64 controls). In the first part of the study, we compared allele frequencies of schizophrenia patients and unmatched controls and observed a significant difference in the total sample (P = 0.01). The second part of the study involved a case control approach in which each schizophrenia patient was matched to a control of the same sex,more » and of similar age and ethnic background. The DRD3 allele frequencies of patients and controls revealed no significant difference between the two groups in the Italian (N = 53) or the North American (N = 54) matched populations; however, when these two matched samples were combined, a significant difference was observed (P = 0.026). Our results suggest that the MscI polymorphism may be associated with schizophrenia in the populations studied. 32 refs., 2 tabs.« less

Effects of Rate on Analgesia in Kilohertz Frequency Spinal Cord Stimulation: Results of the PROCO Randomized Controlled Trial

PubMed Central

Tavakkolizadeh, Moein; Love‐Jones, Sarah; Patel, Nikunj K.; Gu, Jianwen Wendy; Bains, Amarpreet; Doan, Que; Moffitt, Michael

2017-01-01

Objective The PROCO RCT is a multicenter, double‐blind, crossover, randomized controlled trial (RCT) that investigated the effects of rate on analgesia in kilohertz frequency (1–10 kHz) spinal cord stimulation (SCS). Materials and Methods Patients were implanted with SCS systems and underwent an eight‐week search to identify the best location (“sweet spot”) of stimulation at 10 kHz within the searched region (T8–T11). An electronic diary (e‐diary) prompted patients for pain scores three times per day. Patients who responded to 10 kHz per e‐diary numeric rating scale (ED‐NRS) pain scores proceeded to double‐blind rate randomization. Patients received 1, 4, 7, and 10 kHz SCS at the same sweet spot found for 10 kHz in randomized order (four weeks at each frequency). For each frequency, pulse width and amplitude were titrated to optimize therapy. Results All frequencies provided equivalent pain relief as measured by ED‐NRS (p ≤ 0.002). However, mean charge per second differed across frequencies, with 1 kHz SCS requiring 60–70% less charge than higher frequencies (p ≤ 0.0002). Conclusions The PROCO RCT provides Level I evidence for equivalent pain relief from 1 to 10 kHz with appropriate titration of pulse width and amplitude. 1 kHz required significantly less charge than higher frequencies. PMID:29220121

Is tremor related to celiac disease?

PubMed

Ameghino, Lucia; Rossi, Malco Damian; Cerquetti, Daniel; Merello, Marcelo

2017-06-14

Neurological features in celiac disease (CD) are not rare (5%-36%), but tremor is scarcely described. Subjects with CD and healthy controls completed an online survey using WHIGET tremor rating scale. One thousand five hundred and twelve subjects completed the survey, finally 674 CD patients and 290 healthy subjects were included. A higher prevalence of tremor in CD patients was observed in comparison to controls (28% vs 14%, P < 0.001). Frequency of family history of tremor in CD patients with and without tremor was 25% and 20% ( P = 0.2), while in the control group it was 41% and 10% ( P < 0.001). Controls with tremor showed a higher frequency of family history of tremor when compared to CD patients with tremor (41.5% vs 24.6%, P = 0.03). The results suggested that tremor in CD might be more frequent and possibly related to the disease itself and not due to associated essential tremor.

Effects of periodontal treatment on lung function and exacerbation frequency in patients with chronic obstructive pulmonary disease and chronic periodontitis: a 2-year pilot randomized controlled trial.

PubMed

Zhou, Xuan; Han, Jing; Liu, Zhiqiang; Song, Yiqing; Wang, Zuomin; Sun, Zheng

2014-06-01

To evaluate the direct effects of periodontal therapy in Chronic Obstructive Pulmonary Disease (COPD) patients with chronic periodontitis (CP). In a pilot randomized controlled trial, 60 COPD patients with CP were randomly assigned to receive scaling and root planing (SRP) treatment, supragingival scaling treatment, or oral hygiene instructions only with no periodontal treatment. We evaluated their periodontal indexes, respiratory function, and COPD exacerbations at baseline, 6 months, 1, and 2 years. Compared with the control group, measurements of periodontal indexes were significantly improved in patients in two treatment groups at 6-month, 1-year, and 2-year follow-up (all p < 0.05). Overall, the means of forced expiratory volume in the first second/forced vital capacity (FEV1/FVC) and FEV1 were significantly higher in the two therapy groups compared with the control group during the follow-up (p < 0.05). In addition, the frequencies of COPD exacerbation were significantly lower in the two therapy groups than in the control group at 2-year follow-up (p < 0.05). Our preliminary results from this pilot trial suggest that periodontal therapy in COPD patients with CP may improve lung function and decrease the frequency of COPD exacerbation. © 2014 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Study of the HFE gene common polymorphisms in French patients with sporadic amyotrophic lateral sclerosis.

PubMed

Praline, Julien; Blasco, Hélène; Vourc'h, Patrick; Rat, Valérian; Gendrot, Chantal; Camu, William; Andres, Christian R

2012-06-15

Our objective was to investigate whether the C282Y (p.Cys 282 Tyr) and H63D (p. His 63 Asp) HFE polymorphisms were associated with sporadic amyotrophic lateral sclerosis (SALS) in the French population. We searched for a relation of HFE polymorphisms with the clinical characteristics of the disease. The HFE polymorphisms were studied in 824 patients with SALS and 583 controls. We compared the frequency of the polymorphisms between SALS and controls groups by univariate and multivariate statistics, taking into account gender, site, age-at-onset and survival. We did not observe significant difference in the frequency of H63D polymorphism between SALS and control group. We observed a significant difference for C282Y between patients and controls with a low frequency of the Y allele in patients (3.2%) compared to our control group (5.9%). Disease duration, distribution of gender, site-of-onset, age-at-onset did not differ between groups taking into account genotypes of each polymorphism. Our results in this large cohort of ALS patients indicate that H63D polymorphism is not associated with SALS in the French population. This conclusion does not exclude a weak effect of the HFE gene polymorphisms in certain ALS populations, or an effect of other rare HFE gene variants. Copyright © 2012 Elsevier B.V. All rights reserved.

Jaw tremor as a physiological biomarker of bruxism.

PubMed

Laine, C M; Yavuz, Ş U; D'Amico, J M; Gorassini, M A; Türker, K S; Farina, D

2015-09-01

To determine if sleep bruxism is associated with abnormal physiological tremor of the jaw during a visually-guided bite force control task. Healthy participants and patients with sleep bruxism were given visual feedback of their bite force and asked to trace triangular target trajectories (duration=20s, peak force <35% maximum voluntary force). Bite force control was quantified in terms of the power spectra of force fluctuations, masseter EMG activity, and force-to-EMG coherence. Patients had greater jaw force tremor at ∼8 Hz relative to controls, along with increased masseter EMG activity and force-to-EMG coherence in the same frequency range. Patients also showed lower force-to-EMG coherence at low frequencies (<3 Hz), but greater coherence at high frequencies (20-40 Hz). Finally, patients had greater 6-10 Hz force tremor during periods of descending vs. ascending force, while controls showed no difference in tremor with respect to force dynamics. Patients with bruxism have abnormal jaw tremor when engaged in a visually-guided bite force task. Measurement of jaw tremor may aid in the detection/evaluation of bruxism. In light of previous literature, our results also suggest that bruxism is marked by abnormal or mishandled peripheral feedback from the teeth. Copyright © 2015. Published by Elsevier Ireland Ltd.

Reduced event-related low frequency EEG activity in patients with early onset schizophrenia and their unaffected siblings.

PubMed

Simmonite, Molly; Bates, Alan Thomas; Groom, Madeleine; Hollis, Chris; Liddle, Peter Francis

2015-04-30

Low-frequency oscillations in the electroencephalogram (EEG) have been found to be abnormal in patients with schizophrenia. It is unclear, however, whether these abnormalities are related to severity of illness or are a marker for risk. This study investigated total and evoked theta and delta activity in schizophrenia patients, unaffected siblings, and healthy controls (HCs). EEG data were recorded whilst 24 individuals with schizophrenia, 26 unaffected siblings of individuals with schizophrenia and 26 healthy control participants completed a Go/No-Go task. Event-related total activity and evoked theta and delta activity were calculated for correct hits (CH), failed inhibitions (FI) and correct inhibitions (CI) trials. Patients displayed significantly less total delta, evoked delta, total theta and evoked theta activity when compared with healthy controls. Unaffected siblings displayed abnormalities of evoked delta, but other measures were similar to those in control participants. The findings of this study add to evidence that abnormal low-frequency EEG oscillations contribute to impairments in information processing seen in schizophrenia. These findings also suggest abnormal evoked delta oscillations are associated with an increased familial risk of developing the disorder. Copyright © 2015. Published by Elsevier Ireland Ltd.

[Interleukin-10-1082 promoter polymorphism and the risk of gastric cancer].

PubMed

Yin, Yi-qiong; Liu, Chun-juan; Zhang, Ming-ming; Zhou, Yong

2012-05-01

To investigate the association between Interleukin-10 (IL-10) promoter polymorphism and the gastric cancer risk in Chinese Han patients. DNA was extracted from blood samples of gastric cancer patients (n = 75) and controls (n = 75). IL-10 -1082 promoter polymorphism in both patient and control group (three genotypes distribution: AA, AG and GG) was identified by PCR-RFLP and its relationship with gastric cancer risk, clinic and pathologic features was also analyzed. Patients with gastric cancer had a significantly lower frequency of AA (OR = 0.43, 95% CI = 0.20, 0.92; P = 0.03) than controls. Patients with proximal gastric cancer had a significantly higher frequency of GG (OR = 3.06, 95% CI = 1.12, 8.36; P = 0.03) than those with distant gastric cancer. Patients with advanced (stage II/IV) gastric cancer had a significantly higher frequency of AA (OR = 5.09, 95% CI = 1.05, 24.70; P = 0.04) than those with early (stage I /IV) gastric cancer. When stratified by the Lauren's classification, histological differentiation of gastric cancer, no statistically significant results was observed. This study suggests that the IL-1 1082 promoter polymorphism may be associated with gastric cancer in Chinese Han patients, and the difference in genotype distribution may be associated with the location and stage of gastric cancer.

The protective effect of Lactobacillus and Bifidobacterium as the gut microbiota members against chronic urticaria.

PubMed

Rezazadeh, Akram; Shahabi, Shahram; Bagheri, Morteza; Nabizadeh, Edris; Jazani, Nima Hosseini

2018-06-01

Chronic Urticaria is a common disorder which is defined by recurrent occurrence of wheals and sometimes angioedema. It has a notable influence on the patients' quality of life. Regulation of the immune system is one of the important roles of the gut microbiota. The effect of dysbiosis considering some members of gut microbiota in patients with chronic urticaria has been demonstrated in our previous study. Comparing the frequency and bacterial load of Lactobacillus, Bifidobacterium, and Bacteroides between patients with chronic urticaria and healthy controls. 20 patients with chronic urticaria and 20 age and sex matched healthy individuals were included in the present study. Stool samples were analyzed for determining the frequency and bacterial load of Lactobacillus, Bifidobacterium, and Bacteroides genera. There were no significant differences among the frequencies of detectable Lactobacillus, Bifidobacterium, or Bacteroides in stool samples of patients with chronic urticaria and healthy controls. The relative amounts of Lactobacillus and Bifidobacterium were significantly higher in fecal samples from controls compared to patients with chronic urticaria (P = 0.038 and 0.039, respectively). It is the first study on the implication of Lactobacillus, Bifidobacterium, and Bacteroides genera as gut microbiota members in patients with chronic urticaria. Copyright © 2018 Elsevier B.V. All rights reserved.

The Relationship Between Glutathione S-Transferase-P1 and Beta-2 Adrenoreceptor Genotypes with Asthmatic Patients in the Turkish Population.

PubMed

Kaymak, Cetin; Aygun Kocabas, Neslihan; Aydın, Nesrin; Oztuna, Derya; Karakaya, Ali Esat

2016-09-01

Individual differences in the activity of enzymes that metabolize xenobiotics can impact health and disease. Beta-2 adrenoreceptor (ADRB2) is a functional G-coupled protein expressed in the vascular endothelium of lungs, alveolar walls, and the ganglions of cholinergic nerves which induces bronchodilation in response to catecholamines. Glutathione S-Transferase-P1 (GSTP1) is a candidate pi class GST gene, which controls pi class glutathione S-transferase activity. In this study we determined the relationship between the ADRB2 Arg16Gly polymorphism and GSTP1 polymorphisms, involved in bronchodilator response and oxidative stress, respectively, with susceptibility to asthma. In this study, 129 asthmatic patients and 127 healthy control cases were recruited to determine ADRB2 and GSTP1 genotypes by allele-specific polymerase chain reaction and restriction fragment length polymorphism assays, respectively. The ADRB2 genotype frequencies of the patients and control cases were found to be 10.9% (Arg16Arg), 48.8% (Arg16Gly), and 40.3% (Gly16Gly) and 24.4% (Arg16Arg), 36.2% (Arg16Gly), and 39.4% (Gly16Gly), respectively. GSTP1 genotype frequencies of patients and control cases were found to be 55% (Ile105Ile), 43.4% (Ile105Val), and 1.6% (Val105Val) and 75.6% (Ile105Ile), 22% (Ile105Val), and 2.4% (Val105Val), respectively. In the case of the GSTP1 gene, we found statistically significant differences in the genotype frequency of Ile105Val and the allele frequency of Val105 in the asthmatic group compared with the controls. Moreover, we observed a relationship between allele frequencies and clinical phenotypes including atopia nocturnal dyspnea, and steroid dependency in the asthmatic patients. Our results suggest that the GSTP1 Ile105Val polymorphism may be linked to the severeness of airway dysfunction.

Frequency of Propionibacterium acnes Infection in Prostate Glands with Negative Biopsy Results Is an Independent Risk Factor for Prostate Cancer in Patients with Increased Serum PSA Titers

PubMed Central

Ito, Takashi; Uchida, Keisuke; Sekine, Masaki; Nakajima, Yutaka; Furukawa, Asuka; Suzuki, Yoshimi; Kumagai, Jiro; Akashi, Takumi

2017-01-01

Background Propionibacterium acnes has recently been implicated as a cause of chronic prostatitis and this commensal bacterium may be linked to prostate carcinogenesis. The occurrence of intracellular P. acnes infection in prostate glands and the higher frequency of P. acnes-positive glands in radical prostatectomy specimens from patients with prostate cancer (PCa) than in those from patients without PCa led us to examine whether the P. acnes-positive gland frequency can be used to assess the risk for PCa in patients whose first prostate biopsy, performed due to an increased prostate-specific antigen (PSA) titer, was negative. Methods We retrospectively collected the first and last prostate biopsy samples from 44 patients that were diagnosed PCa within 4 years after the first negative biopsy and from 36 control patients with no PCa found in repeated biopsy for at least 3 years after the first biopsy. We evaluated P. acnes-positive gland frequency and P. acnes-positive macrophage number using enzyme-immunohistochemistry with a P. acnes-specific monoclonal antibody (PAL antibody). Results The frequency of P. acnes-positive glands was higher in PCa samples than in control samples in both first biopsy samples and in combined first and last biopsy samples (P < 0.001). A frequency greater than the threshold (18.5 and 17.7, respectively) obtained by each receiver operating characteristic curve was an independent risk factor for PCa (P = 0.003 and 0.001, respectively) with odds ratios (14.8 and 13.9, respectively) higher than those of serum PSA titers of patients just before each biopsy (4.6 and 2.3, respectively). The number of P. acnes-positive macrophages did not differ significantly between PCa and control samples. Conclusions These results suggested that the frequency of P. acnes-positive glands in the first negative prostate biopsy performed due to increased PSA titers can be supportive information for urologists in planning repeated biopsy or follow-up strategies. PMID:28081259

The Association of Peripheral Blood Regulatory T-Cell Concentrations With Epithelial Ovarian Cancer: A Brief Report.

PubMed

Cannioto, Rikki A; Sucheston-Campbell, Lara E; Hampras, Shalaka; Goode, Ellen L; Knutson, Keith; Ness, Roberta; Modugno, Francesmary; Wallace, Paul; Szender, J Brian; Mayor, Paul; Hong, Chi-Chen; Joseph, Janine M; Friel, Grace; Davis, Warren; Nesline, Mary; Eng, Kevin H; Edwards, Robert P; Kruszka, Bridget; Schmitt, Kristina; Odunsi, Kunle; Moysich, Kirsten B

2017-01-01

There is a mounting body of evidence demonstrating higher percentages of regulatory T (Treg) cells in the peripheral blood of patients with cancer in comparison to healthy controls, but there is a paucity of epidemiological literature characterizing circulating Treg cells among patients with epithelial ovarian cancer (EOC). To investigate the role of peripheral Treg cells in ovarian neoplasms, we conducted a case-control study to characterize circulating concentrations of Treg cells among patients with EOC, women with benign ovarian conditions, and healthy controls without a history of cancer. Participants were identified for inclusion due to their participation in the Data Bank and BioRepository program at Roswell Park Cancer Institute in Buffalo, NY. Patients included 71 women with a primary diagnosis of EOC and 195 women with a diagnosis of benign ovarian conditions. Controls included 101 age- and race-matched women without a history of cancer. Nonfasting, pretreatment peripheral blood levels of CD3+CD4+CD25+FOXP3+ Treg cells were measured using flow cytometric analyses and expressed as a percentage of total CD3+ cells and as a percentage of total CD3+CD4+ cells. Compared to healthy controls and women with benign ovarian conditions, patients with EOC had significantly higher frequency of Treg cells (P < 0.04). In multivariable logistic regression analyses using Treg frequency expressed as a percentage of CD+3 cells, we observed a significant positive association between Treg cell percentage and EOC risk, with each 1% increase associated with a 37% increased risk of EOC (odds ratio, 1.37; 95% confidence interval, 1.04-1.80). We observed a similar trend when Treg frequency was expressed as a percentage of CD3+CD+4 cells (odds ratio, 1.22; 95% confidence interval, 0.99-1.49). The current study provides support that peripheral Treg cell frequency is elevated in patients with EOC in comparison to women with benign ovarian conditions and healthy controls.

The association of peripheral blood regulatory T-cell concentrations with epithelial ovarian cancer: A brief report

PubMed Central

Hampras, Shalaka; Goode, Ellen L.; Knutson, Keith; Ness, Roberta; Modugno, Francesmary; Wallace, Paul; Szender, J. Brian; Mayor, Paul; Hong, Chi-Chen; Joseph, Janine M.; Friel, Grace; Davis, Warren; Nesline, Mary; Eng, Kevin H.; Edwards, Robert P.; Kruszka, Bridget; Schmitt, Kristina; Odunsi, Kunle; Moysich, Kirsten B.

2016-01-01

Objective There is a mounting body of evidence demonstrating higher percentages of regulatory T (Treg) cells in the peripheral blood of cancer patients in comparison to healthy controls, but there is a paucity of epidemiological literature characterizing circulating Treg cells among epithelial ovarian cancer (EOC) patients. To investigate the role of peripheral Treg cells in ovarian neoplasms, we conducted a case-control study to characterize circulating concentrations of Treg cells among EOC patients, women with benign ovarian conditions, and healthy controls without a history of cancer. Materials and Methods Participants were identified for inclusion due to their participation in the Data Bank and BioRepository program at Roswell Park Cancer Institute in Buffalo, NY. Patients included 71 women with a primary diagnosis of EOC and 195 women with a diagnosis of benign ovarian conditions. Controls included 101 age- and race-matched women without a history of cancer. Non-fasting, pre-treatment peripheral blood levels of CD3+CD4+CD25+FOXP3+ Treg cells were measured using flow cytometric analyses and expressed as a percentage of total CD3+ cells and as a percentage of total CD3+CD4+ cells. Results Compared to healthy controls and women with benign ovarian conditions, EOC patients had significantly higher frequency of Treg cells (p<0.04). In multivariable logistic regression analyses utilizing Treg frequency expressed as a percentage of CD+3 cells, we observed a significant positive association between Treg cell percentage and EOC risk, with each one percent increase associated with a 37% increased risk of EOC (OR=1.37, 95% CI: 1.04-1.80). We observed a similar trend when Treg frequency was expressed as a percentage of CD3+CD+4 cells (OR=1.22, 95% CI: 0.99-1.49). Conclusions The current study provides support that peripheral Treg cell frequency is elevated in EOC patients in comparison to women with benign ovarian conditions and healthy controls. PMID:27759594

Data mining neocortical high-frequency oscillations in epilepsy and controls

PubMed Central

Stead, Matt; Krieger, Abba; Stacey, William; Maus, Douglas; Marsh, Eric; Viventi, Jonathan; Lee, Kendall H.; Marsh, Richard; Litt, Brian; Worrell, Gregory A.

2011-01-01

Transient high-frequency (100–500 Hz) oscillations of the local field potential have been studied extensively in human mesial temporal lobe. Previous studies report that both ripple (100–250 Hz) and fast ripple (250–500 Hz) oscillations are increased in the seizure-onset zone of patients with mesial temporal lobe epilepsy. Comparatively little is known, however, about their spatial distribution with respect to seizure-onset zone in neocortical epilepsy, or their prevalence in normal brain. We present a quantitative analysis of high-frequency oscillations and their rates of occurrence in a group of nine patients with neocortical epilepsy and two control patients with no history of seizures. Oscillations were automatically detected and classified using an unsupervised approach in a data set of unprecedented volume in epilepsy research, over 12 terabytes of continuous long-term micro- and macro-electrode intracranial recordings, without human preprocessing, enabling selection-bias-free estimates of oscillation rates. There are three main results: (i) a cluster of ripple frequency oscillations with median spectral centroid = 137 Hz is increased in the seizure-onset zone more frequently than a cluster of fast ripple frequency oscillations (median spectral centroid = 305 Hz); (ii) we found no difference in the rates of high frequency oscillations in control neocortex and the non-seizure-onset zone neocortex of patients with epilepsy, despite the possibility of different underlying mechanisms of generation; and (iii) while previous studies have demonstrated that oscillations recorded by parenchyma-penetrating micro-electrodes have higher peak 100–500 Hz frequencies than penetrating macro-electrodes, this was not found for the epipial electrodes used here to record from the neocortical surface. We conclude that the relative rate of ripple frequency oscillations is a potential biomarker for epileptic neocortex, but that larger prospective studies correlating high-frequency oscillations rates with seizure-onset zone, resected tissue and surgical outcome are required to determine the true predictive value. PMID:21903727

Data mining neocortical high-frequency oscillations in epilepsy and controls.

PubMed

Blanco, Justin A; Stead, Matt; Krieger, Abba; Stacey, William; Maus, Douglas; Marsh, Eric; Viventi, Jonathan; Lee, Kendall H; Marsh, Richard; Litt, Brian; Worrell, Gregory A

2011-10-01

Transient high-frequency (100-500 Hz) oscillations of the local field potential have been studied extensively in human mesial temporal lobe. Previous studies report that both ripple (100-250 Hz) and fast ripple (250-500 Hz) oscillations are increased in the seizure-onset zone of patients with mesial temporal lobe epilepsy. Comparatively little is known, however, about their spatial distribution with respect to seizure-onset zone in neocortical epilepsy, or their prevalence in normal brain. We present a quantitative analysis of high-frequency oscillations and their rates of occurrence in a group of nine patients with neocortical epilepsy and two control patients with no history of seizures. Oscillations were automatically detected and classified using an unsupervised approach in a data set of unprecedented volume in epilepsy research, over 12 terabytes of continuous long-term micro- and macro-electrode intracranial recordings, without human preprocessing, enabling selection-bias-free estimates of oscillation rates. There are three main results: (i) a cluster of ripple frequency oscillations with median spectral centroid = 137 Hz is increased in the seizure-onset zone more frequently than a cluster of fast ripple frequency oscillations (median spectral centroid = 305 Hz); (ii) we found no difference in the rates of high frequency oscillations in control neocortex and the non-seizure-onset zone neocortex of patients with epilepsy, despite the possibility of different underlying mechanisms of generation; and (iii) while previous studies have demonstrated that oscillations recorded by parenchyma-penetrating micro-electrodes have higher peak 100-500 Hz frequencies than penetrating macro-electrodes, this was not found for the epipial electrodes used here to record from the neocortical surface. We conclude that the relative rate of ripple frequency oscillations is a potential biomarker for epileptic neocortex, but that larger prospective studies correlating high-frequency oscillations rates with seizure-onset zone, resected tissue and surgical outcome are required to determine the true predictive value.

Exon 3-deleted/full-length growth hormone receptor polymorphism genotype frequencies in Spanish short small-for-gestational-age (SGA) children and adolescents (n = 247) and in an adult control population (n = 289) show increased fl/fl in short SGA.

PubMed

Audí, Laura; Esteban, Cristina; Carrascosa, Antonio; Espadero, Rosa; Pérez-Arroyo, Annalisa; Arjona, Rosa; Clemente, María; Wollmann, Hartmut; Fryklund, Linda; Parodi, Luis A

2006-12-01

A polymorphism in the human GH receptor gene (d3/fl-GHR) resulting in genomic deletion of exon 3 has been associated with the degree of height increase in response to GH therapy. The objective of the study was to evaluate the frequencies of d3/fl-GHR polymorphism genotypes in control and short small-for-gestational-age (SGA) populations. An adult control population with heights normally distributed (ACPNH) between -2 and +2 sd score (SDS) and a short non-GH-deficient SGA child population were selected. Thirty Spanish hospitals participated in the selection of the short non-GH-deficient SGA children in the setting of a controlled, randomized trial, and one of these hospitals selected the ACPNH. CONTROLS AND PATIENTS: Two hundred eighty-nine adult subjects of both sexes constituted the ACPNH and 247 children and adolescents of both sexes the short SGA patients. Heights and weights were recorded in the ACPNH, and auxologic and biochemical data were recorded at each hospital for the SGA patients; d3/fl-GHR genotypes were determined and data analyzed in a single hospital. In short SGA patients, d3/fl-GHR genotype frequencies were significantly different from those in ACPNH, with a higher frequency of fl/fl genotype (P < 0.0001). In ACPNH, a trend toward diminished d3/d3 genotype frequency was observed in the shortest height group (height or=-2 SDS, n = 60). Our data showed significant differences in the frequency distribution of the d3/fl-GHR genotypes between a normally distributed adult height population and short SGA children, with the biologically less active fl/fl genotype being almost twice as frequent in SGA patients. These data suggest that the d3/fl-GHR polymorphism might be considered among the factors that contribute to the phenotypic expression of growth.

APJ receptor A445C gene polymorphism in Turkish patients with coronary artery disease

PubMed Central

Akcılar, Raziye; Yümün, Gündüz; Bayat, Zeynep; Donbaloğlu, Okan; Erselcan, Kubilay; Ece, Ezgi; Kökdaşgil, Hülya; Genç, Osman

2015-01-01

Coronary artery disease (CAD) is a disease in which a waxy substance called plaque builds up inside the coronary arteries. Apelin is a novel endogenous peptide with inotropic and vasodilatory properties and is the ligand for the angiotensin receptor-like 1 (APJ) receptor. We aimed to determine genotype and allele frequencies of APJ receptor A445C gene polymorphism in Turkish patients with CAD and healthy controls by RFLP-PCR. This study was performed on 159 unrelated CAD patients and 62 healthy controls. We obtained AA, AC and CC genotype frequencies in CAD patients as 41.5%, 49.1% and 9.4%, respectively. In the control group, frequencies of genotypes were found as 35.5% for AA, 48.4% for AC and 16.1% for CC. We did not observe difference in APJ receptor A445C polymorphism between CAD patients and healthy controls (χ2 = 2.178; df = 2; P = 0.336). The A allele was encountered in 66% (210) of the CAD and 59.7% (74) of the controls. The C allele was seen in 34% (108) of the CAD and 40.3% (50) of the controls. Allele frequencies of interested genes were not significantly different between groups (χ2 = 1.57; df = 1; p = 0.225). The frequencies of APJ receptor A445C genotype were not significantly different between control and patients. None of the three APJ receptor A445C genotypes, AA, AC and CC displayed significant difference in CAD patients. We did not find any difference in the clinical parameters except for weight and diastolic blood pressure levels in the AA, AC and CC genotypes of patients. Individuals with CC genotypes had significantly higher weight, systolic and diastolic blood pressure levels and systolic blood pressure than other genotypes, P ≤ 0.05. In addition, HDL-C level was found decreased, but this reduction was not statistically significant. Contrarily, the low levels of weight, SBP, DBP and TC were statistically significant in the subjects with AA genotype in CAD. In conclusion, CC genotype carriers may have more risk than other genotypes in the development of hypertension in CAD, but not AAgenotype carriers. We suggest that this polymorphism may not be a marker of CAD, but it may cause useful in function of the apelin/APJ system and may be a genetic predisposing factor for diagnostic processes and can be helpfull in finding new treatment strategies. We think that it is required to further comprehensive studies in order to make clear this situation in CAD. PMID:26770497

Hyperhomocysteinemia following a methionine load in patients with non-insulin-dependent diabetes mellitus and macrovascular disease.

PubMed

Munshi, M N; Stone, A; Fink, L; Fonseca, V

1996-01-01

In the setting of an outpatient diabetic clinic, we determined whether macrovascular disease in patients with diabetes mellitus is associated with hyperhomocysteinemia (elevated plasma homocysteine [H(e)] concentrations) following a methionine load. Methionine-load tests were performed in 18 healthy controls, 11 diabetics without vascular disease (five insulin-dependent [IDDM] and six non-insulin-dependent [NIDDM]); and 17 diabetics with vascular disease (five IDDM and 12 NIDDM). All subjects were male, and there was no significant difference in mean age among the three groups. We measured plasma H(e) concentrations before and 2, 4, 6, 8, and 24 hours after an oral methionine load. Hyperhomocysteinemia (peak plasma H(e) concentration > control mean +/- 2 SD) occurred with significantly greater frequency (seven of 18, 39%) in patients with NIDDM as compared with age-matched controls (7%), being more common in those with macrovascular disease (five of 12, 41%). The area under the curve (AUC) over 24 hours, reflecting the total period of exposure to H(e), was also elevated with greater frequency in patients with NIDDM and macrovascular disease (33%) as compared with controls (0%). We conclude that hyperhomocysteinemia is associated with macrovascular disease in a significant proportion of patients with NIDDM. Further investigation of this association may determine whether hyperhomocysteinemia contributes to the increased frequency and accelerated clinical course of vascular disease in patients with diabetes mellitus.

Investigation of Multiple Frequency Ranges Using Discrete Wavelet Decomposition of Resting-State Functional Connectivity in Mild Traumatic Brain Injury Patients

PubMed Central

Chen, Haoxing; Roys, Steven; Zhuo, Jiachen; Varshney, Amitabh; Gullapalli, Rao P.

2015-01-01

Abstract The aim of this study was to investigate if discrete wavelet decomposition provides additional insight into resting-state processes through the analysis of functional connectivity within specific frequency ranges within the default mode network (DMN) that may be affected by mild traumatic brain injury (mTBI). Participants included 32 mTBI patients (15 with postconcussive syndrome [PCS+] and 17 without [PCS−]). mTBI patients received resting-state functional magnetic resonance imaging (rs-fMRI) at acute (within 10 days of injury) and chronic (6 months postinjury) time points and were compared with 31 controls (healthy control [HC]). The wavelet decomposition divides the time series into multiple frequency ranges based on four scaling factors (SF1: 0.125–0.250 Hz, SF2: 0.060–0.125 Hz, SF3: 0.030–0.060 Hz, SF4: 0.015–0.030 Hz). Within each SF, wavelet connectivity matrices for nodes of the DMN were created for each group (HC, PCS+, PCS−), and bivariate measures of strength and diversity were calculated. The results demonstrate reduced strength of connectivity in PCS+ patients compared with PCS− patients within SF1 during both the acute and chronic stages of injury, as well as recovery of connectivity within SF1 across the two time points. Furthermore, the PCS− group demonstrated greater network strength compared with controls at both time points, suggesting a potential compensatory or protective mechanism in these patients. These findings stress the importance of investigating resting-state connectivity within multiple frequency ranges; however, many of our findings are within SF1, which may overlap with frequencies associated with cardiac and respiratory activities. PMID:25808612

Investigation of Multiple Frequency Ranges Using Discrete Wavelet Decomposition of Resting-State Functional Connectivity in Mild Traumatic Brain Injury Patients.

PubMed

Sours, Chandler; Chen, Haoxing; Roys, Steven; Zhuo, Jiachen; Varshney, Amitabh; Gullapalli, Rao P

2015-09-01

The aim of this study was to investigate if discrete wavelet decomposition provides additional insight into resting-state processes through the analysis of functional connectivity within specific frequency ranges within the default mode network (DMN) that may be affected by mild traumatic brain injury (mTBI). Participants included 32 mTBI patients (15 with postconcussive syndrome [PCS+] and 17 without [PCS-]). mTBI patients received resting-state functional magnetic resonance imaging (rs-fMRI) at acute (within 10 days of injury) and chronic (6 months postinjury) time points and were compared with 31 controls (healthy control [HC]). The wavelet decomposition divides the time series into multiple frequency ranges based on four scaling factors (SF1: 0.125-0.250 Hz, SF2: 0.060-0.125 Hz, SF3: 0.030-0.060 Hz, SF4: 0.015-0.030 Hz). Within each SF, wavelet connectivity matrices for nodes of the DMN were created for each group (HC, PCS+, PCS-), and bivariate measures of strength and diversity were calculated. The results demonstrate reduced strength of connectivity in PCS+ patients compared with PCS- patients within SF1 during both the acute and chronic stages of injury, as well as recovery of connectivity within SF1 across the two time points. Furthermore, the PCS- group demonstrated greater network strength compared with controls at both time points, suggesting a potential compensatory or protective mechanism in these patients. These findings stress the importance of investigating resting-state connectivity within multiple frequency ranges; however, many of our findings are within SF1, which may overlap with frequencies associated with cardiac and respiratory activities.

Association study between BDNF gene variants and Mexican patients with obsessive-compulsive disorder.

PubMed

Márquez, Lidia; Camarena, Beatriz; Hernández, Sandra; Lóyzaga, Cristina; Vargas, Luis; Nicolini, Humberto

2013-11-01

Obsessive-compulsive disorder (OCD) is a psychiatric disorder whose etiology is not yet known. We investigate the role of three variants of the BDNF gene (rs6265, rs1519480 and rs7124442) by single SNP and haplotype analysis in OCD Mexican patients using a case-control and family-based association design. BDNF gene variants were genotyped in 283 control subjects, 232 OCD patients and first degree relatives of 111 OCD subjects. Single SNP analysis in case-control study showed an association between rs6265 and OCD with a high frequency of Val/Val genotype and Val allele (p=0.0001 and p=0.0001, respectively). Also, genotype and allele analysis of rs1519480 showed significant differences (p=0.0001, p=0.0001; respectively) between OCD and control groups. Haplotype analysis showed a high frequency of A-T (rs6265-rs1519480) in OCD patients compared with the control group (OR=2.06 [1.18-3.59], p=0.0093) and a low frequency of haplotype A-C in the OCD patients (OR=0.04 [0.01-0.16], p=0.000002). The family-based association study showed no significant differences in the transmission of any variant. Our study replicated the association between BDNF Val66Met gene polymorphism and OCD. Also, we found a significant association of rs1519480 in OCD patients compared with a control group, region that has never been analyzed in OCD. In conclusion, our findings suggest that BDNF gene could be related to the development of OCD. © 2013 Elsevier B.V. and ECNP. All rights reserved.

Programmed death-1 gene polymorphism (PD-1.5 C/T) is associated with gastric cancer.

PubMed

Savabkar, Sanaz; Azimzadeh, Pedram; Chaleshi, Vahid; Nazemalhosseini Mojarad, Ehsan; Aghdaei, Hamid Asadzadeh

2013-01-01

This study aimed to determine the association between PD-1.5C/T (rs2227981, +7785) and the risk of gastric cancer (GC) in an Iranian population. Gastric cancer is the fourth most common cancer in the world. The programmed death 1 (PD-1) is a member of the CD28 super family. PD-1 is a negative regulator of T-cell effector mechanisms which decrease immune responses against cancer. we conducted case- control study to investigate the association of PD-1.5 C/T polymorphism in 122 GC patients and 166 control individuals. DNA was extracted from blood specimens. Genotypes were analyzed using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) assay. The frequency of CC, CT and TT genotypes was 53.6%, 42.2% and 4.2% in control group and 41%, 54.1% and 4.9% in gastric cancer patients respectively. CC genotype was more frequent in control individuals than in patients but we found no statically significant association. The frequencies of PD-1.5CT genotypes were significantly higher in GC patient compared with control individuals (OR= 1.77, 95% CI= 1.077-2.931; P=0.026). Allele distribution was similar in patients and healthy individuals (p = 0.061).Frequency of C and T alleles was 74.7%, 25.3% in control individuals and 68.03% and 31.97% in gastric cancer patients respectively. These results suggest that PD-1.5 C/T polymorphism may affect the GC risk and prognosis in an Iranian population.

Influence of hormonal control on LH pulsatility and secretion in women with classical congenital adrenal hyperplasia.

PubMed

Bachelot, Anne; Chakhtoura, Zeina; Plu-Bureau, Geneviève; Coudert, Mathieu; Coussieu, Christiane; Badachi, Yasmina; Dulon, Jérome; Charbit, Beny; Touraine, Philippe

2012-10-01

Women with classical congenital adrenal hyperplasia (CAH) exhibit reduced fertility due to several factors including anovulation. This has been attributed to a disturbed gonadotropic axis as in polycystic ovary syndrome (PCOS), but there is no precise evaluation. Our aim was to evaluate the gonadotropic axis and LH pulsatility patterns and to determine factor(s) that could account for the potential abnormality of LH pulsatility. Case/control study. Sixteen CAH women (11 with the salt-wasting form and five with the simple virilizing form), aged from 18 to 40 years, and 16 age-matched women, with regular menstrual cycles (28 ± 3 days), were included. LH pulse patterns over 6 h were determined in patients and controls. No differences were observed between patients and controls in terms of mean LH levels, LH pulse amplitude, or LH frequency. In CAH patients, LH pulsatility patterns were heterogeneous, leading us to perform a clustering analysis of LH data, resulting in a two-cluster partition. Patients in cluster 1 had similar LH pulsatility patterns to the controls. Patients in cluster 2 had: lower LH pulse amplitude and frequency and presented menstrual cycle disturbances more frequently; higher 17-OH progesterone, testosterone, progesterone, and androstenedione levels; and lower FSH levels. LH pulsatility may be normal in CAH women well controlled by hormonal treatment. Undertreatment is responsible for hypogonadotropic hypogonadism, with low LH pulse levels and frequency, but not PCOS. Suppression of progesterone and androgen concentrations during the follicular phase of the menstrual cycle should be a major objective in these patients.

Effect of low oral doses of disopyramide and amiodarone on ventricular and atrial arrhythmias of chagasic patients with advanced myocardial damage.

PubMed

Carrasco, H A; Vicuña, A V; Molina, C; Landaeta, A; Reynosa, J; Vicuña, N; Fuenmayor, A; López, F

1985-12-01

Low-dose (7 mg/kg per day) disopyramide administration to arrhythmic chagasic patients decreased the frequency of ventricular extrasystoles in 4 of 17 patients (24%) and suppressed most complex ventricular arrhythmias in 12 of 15 patients (80%). This assessment was made from 72-h continuous Holter monitoring recorded during the course of this double blind, placebo-controlled randomized crossover study. Seven patients (41%) complained of anticholinergic side effects, but no contractile or conduction system depression was seen. Amiodarone (200 mg) given on a single blind, placebo-controlled basis to 9 of these patients reduced the frequency of ventricular extrasystoles in 6 of 9 patients (67%) and suppressed complex ventricular ectopy in 6 of 7 patients (85%). One patient was unable to tolerate this drug (11%). Both drugs seemed less effective in controlling supraventricular arrhythmias, although disopyramide eliminated paroxysms of supraventricular tachycardia in 9 of 13 (69%) and amiodarone in all 6 patients with this arrhythmia. Amiodarone appears to be a better antiarrhythmic drug for chagasic patients, due to its greater effectiveness and lower incidence of side effects.

Frequency of Subclinical Atherosclerosis in Brazilian HIV-Infected Patients.

PubMed

Salmazo, Péricles Sidnei; Bazan, Silméia Garcia Zanati; Shiraishi, Flávio Gobbis; Bazan, Rodrigo; Okoshi, Katashi; Hueb, João Carlos

2018-04-09

AIDS as well as atherosclerosis are important public health problems. The longer survival among HIV-infected is associated with increased number of cardiovascular events in this population, and this association is not fully understood. To identify the frequency of subclinical atherosclerosis in HIV-infected patients compared to control subjects; to analyze associations between atherosclerosis and clinical and laboratory variables, cardiovascular risk factors, and the Framingham coronary heart disease risk score (FCRS). Prospective cross-sectional case-control study assessing the presence of subclinical atherosclerosis in 264 HIV-infected patients and 279 controls. Clinical evaluation included ultrasound examination of the carotid arteries, arterial stiffness by pulse wave velocity (PWV) and augmentation index (AIx), laboratory analysis of peripheral blood, and cardiovascular risk according to FCRS criteria. The significance level adopted in the statistical analysis was p < 0.05. Plaques were found in 37% of the HIV group and 4% of controls (p < 0.001). Furthermore, carotid intima-media thickness was higher in the HIV group than in controls (p < 0.001). Patients with carotid plaque had higher fasting glucose, total cholesterol, low-density lipoprotein cholesterol, and triglycerides than those without plaques. The presence of HIV, adjusted for age, overweight/obesity, and smoking increased by almost fivefold the risk of atherosclerotic carotid plaque (OR: 4.9; 95%CI: 2.5-9.9; p < 0.001). Exposure to protease inhibitors did not influence carotid intima-media thickness, was not associated with carotid plaque frequency, and did not alter the mechanical characteristics of the arterial system (PWV and AIx). HIV-infected patients are at increased risk of atherosclerosis in association with classical cardiovascular risk factors. Treatment with protease inhibitors does not promote functional changes in the arteries, and shows no association with increased frequency of atherosclerotic plaques in carotid arteries. The FCRS may be inappropriate for this population.

Gender-stratified analysis of DLG5 R30Q in 4707 patients with Crohn disease and 4973 controls from 12 Caucasian cohorts.

PubMed

Browning, B L; Annese, V; Barclay, M L; Bingham, S A; Brand, S; Büning, C; Castro, M; Cucchiara, S; Dallapiccola, B; Drummond, H; Ferguson, L R; Ferraris, A; Fisher, S A; Gearry, R B; Glas, J; Henckaerts, L; Huebner, C; Knafelz, D; Lakatos, L; Lakatos, P L; Latiano, A; Liu, X; Mathew, C; Müller-Myhsok, B; Newman, W G; Nimmo, E R; Noble, C L; Palmieri, O; Parkes, M; Petermann, I; Rutgeerts, P; Satsangi, J; Shelling, A N; Siminovitch, K A; Török, H-P; Tremelling, M; Vermeire, S; Valvano, M R; Witt, H

2008-01-01

DLG5 p.R30Q has been reported to be associated with Crohn disease (CD), but this association has not been replicated in most studies. A recent analysis of gender-stratified data from two case-control studies and two population cohorts found an association of DLG5 30Q with increased risk of CD in men but not in women and found differences between 30Q population frequencies for males and females. Male-female differences in population allele frequencies and male-specific risk could explain the difficulty in replicating the association with CD. DLG5 R30Q genotype data were collected for patients with CD and controls from 11 studies that did not include gender-stratified allele counts in their published reports and tested for male-female frequency differences in controls and for case-control frequency differences in men and in women. The data showed no male-female allele frequency differences in controls. An exact conditional test gave marginal evidence that 30Q is associated with decreased risk of CD in women (p = 0.049, OR = 0.87, 95% CI 0.77 to 1.00). There was also a trend towards reduced 30Q frequencies in male patients with CD compared with male controls, but this was not significant at the 0.05 level (p = 0.058, OR = 0.87, 95% CI 0.74 to 1.01). When data from this study were combined with previously published, gender-stratified data, the 30Q allele was found to be associated with decreased risk of CD in women (p = 0.010, OR = 0.86, 95% CI 0.76 to 0.97), but not in men. DLG5 30Q is associated with a small reduction in risk of CD in women.

Polycystic ovary syndrome: association of a C/T single nucleotide polymorphism at tyrosine kinase domain of insulin receptor gene with pathogenesis among lean Japanese women.

PubMed

Kashima, Katsunori; Yahata, Tetsuro; Fujita, Kazuyuki; Tanaka, Kenichi

2013-01-01

To assess whether the insulin receptor (INSR) gene contributes to genetic susceptibility to polycystic ovary syndrome (PCOS) in a Japanese population. We ex-amined the frequency of the His 1058 C/T single nucleotide polymorphism (SNP) found in exon 17 of the INSR gene in 61 Japanese PCOS patients and 99 Japanese healthy controls. In addition, we analyzed the association between the genotype of this SNP and the clinical phenotypes. The frequency of the C/C genotype was not significantly different between all PCOS patients (47.5%) and controls (35.4%). However, among the lean cases (body mass index < or = 20 kg/m2) the frequency of the C/C genotype was significantly increased (p < 0.05) in PCOS patients (65.0%) as compared with controls (36.6%). We concluded that the His 1058 C/T polymorphism at the tyrosine kinase domain of the INSR gene had a relationship to the pathogenesis of lean PCOS patients in a Japanese population.

Data on correlations between T cell subset frequencies and length of partial remission in type 1 diabetes.

PubMed

Narsale, Aditi; Moya, Rosita; Robertson, Hannah Kathryn; Davies, Joanna Davida

2016-09-01

Partial remission in patients newly diagnosed with type 1 diabetes is a period of good glucose control that can last from several weeks to over a year. The clinical significance of the remission period is that patients might be more responsive to immunotherapy if treated within this period. This article provides clinical data that indicates the level of glucose control and insulin-secreting β-cell function of each patient in the study at baseline (within 3 months of diagnosis), and at 3, 6, 9, 12, 18 and 24 months post-baseline. The relative frequency of immune cell subsets in the PBMC of each patient and the association between the frequency of immune cell subsets measured and length of remission is also shown. These data support the findings reported in the accompanying publication, "A pilot study showing associations between frequency of CD4+ memory cell subsets at diagnosis and duration of partial remission in type 1 diabetes" (Moya et al., 2016) [1], where a full interpretation, including biological relevance of the study can be found.

Association between HLA-A and -B polymorphisms and susceptibility to Henoch-Schönlein purpura in Han and Mongolian children from Inner Mongolia.

PubMed

Ren, S M; Yang, G L; Liu, C Z; Zhang, C X; Shou, Q H; Yu, S F; Li, W C; Su, X L

2012-02-03

We examined a possible association between HLA-A and -B polymorphisms and susceptibility to Henoch-Schönlein purpura (HSP) in Han and Mongolian children in Inner Mongolia, through a case-control study. Two hundred and sixty-eight unrelated children were enrolled, including 56 Mongolian and 50 Han children with HSP, 66 healthy Mongolian and 96 healthy Han children as a control group. HLA-A and -B alleles were indentified by PCR-sequence-specific oligonucleotide analysis and were further analyzed by PCR-sequencing-based typing (SBT). Frequencies of HLA-A*11, HLA-B*15 in Mongolian patients and HLA-A*26, HLA-B*35, HLA-B*52 in Han patients were higher than those in the corresponding control group (P < 0.05), while frequencies of HLA-B*07 and -B*40 in Mongolian HSP patients were lower than those in the control group (P < 0.05). Further analysis using PCR-SBT showed that all HLA-A*11 were HLA-A*1101, and most HLA-B*15 were HLA-B*1501 in Mongolian HSP patients. All HLA-A*26 were HLA-A*2601 and HLA-B*35 were mostly HLA-B*3503 in Han patients. There were more Han patients with severe manifestations than Mongolian patients (P < 0.05). Frequencies of HLA-A*26, HLA-B*35 and HLA-B*52 in Han patients were higher than in Mongolian patients (P < 0.05). We conclude that HLA-A*11(*1101) and -B*15(*1501) are associated with susceptibility to HSP in Mongolian children and HLA-A*26(*2601), HLA-B*35(*3503) and HLA-B*52 are associated with susceptibility to HSP in Han children. HLA-B*07 and -B*40 may be protective genes in Mongolian children. The different frequencies of HLA-A and -B in Mongolian and Han children may be responsible for the different manifestations in these two ethnic groups.

Heart rate autonomic regulation system at rest and during paced breathing among patients with CRPS as compared to age-matched healthy controls.

PubMed

Bartur, Gadi; Vatine, Jean-Jacques; Raphaely-Beer, Noa; Peleg, Sara; Katz-Leurer, Michal

2014-09-01

The objective of this study is to assess the autonomic nerve heart rate regulation system at rest and its immediate response to paced breathing among patients with complex regional pain syndrome (CRPS) as compared with age-matched healthy controls. Quasiexperimental. Outpatient clinic. Ten patients with CRPS and 10 age- and sex-matched controls. Participants underwent Holter ECG (NorthEast Monitoring, Inc., Maynard, MA, USA) recording during rest and biofeedback-paced breathing session. Heart rate variability (HRV), time, and frequency measures were assessed. HRV and time domain values were significantly lower at rest among patients with CRPS as compared with controls. A significant association was noted between pain rank and HRV frequency measures at rest and during paced breathing; although both groups reduced breathing rate significantly during paced breathing, HRV time domain parameters increased only among the control group. The increased heart rate and decreased HRV at rest in patients with CRPS suggest a general autonomic imbalance. The inability of the patients to increase HRV time domain values during paced breathing may suggest that these patients have sustained stress response with minimal changeability in response to slow-paced breathing stimuli. Wiley Periodicals, Inc.

Factors affecting smoking in schizophrenia.

PubMed

Beratis, S; Katrivanou, A; Gourzis, P

2001-01-01

There is an increased frequency of smoking among patients with schizophrenia. However, it is unknown whether the smoking behavior of the patients is similar in all schizophrenia subtypes, as well as which is the relationship between smoking initiation and disease onset. Four hundred six patients with DSM-IV schizophrenia were interviewed to determine the smoking status in relationship to gender and schizophrenic subtype, and to other factors that could affect or be affected by smoking. The frequency of smoking among patients (58%) was significantly greater than in subjects from the general population (42%) (P =.000005). Male patients smoked significantly more frequently (70%) than the corresponding control subjects (50%) (P =.000006), whereas the difference failed to reach significance between female patients (41%) and control subjects (32%). Among male patients, the number of smokers was significantly greater than in the controls in the paranoid (77%), undifferentiated (72%), and residual (78%) subtypes, whereas there was no significant difference in the disorganized (44%) and catatonic (22%) subtypes. The findings show that the frequency of smoking in schizophrenia patients increases with increasing positive symptoms and decreases with increasing negative symptoms. Male and female smoking patients consumed approximately 10 cigarettes per day more than the corresponding control subjects (P <.000001). In 86% of the patients, smoking initiation occurred before the disease onset. Among patients who smoked, smoking initiation and disease onset occurred at age 18.7 +/- 4.4 and 24.1 +/- 6.1 years, respectively (P <.000001). It appears that smoking in schizophrenia is influenced by gender and subtype. However, the nature of this association remains uncertain because in the vast majority of the patients smoking initiation occurs earlier than the disease onset. Copyright 2001 by W.B. Saunders Company

Tone discrimination performance in schizophrenic patients and normal volunteers: impact of stimulus presentation levels and frequency differences.

PubMed

Holcomb, H H; Ritzl, E K; Medoff, D R; Nevitt, J; Gordon, B; Tamminga, C A

1995-06-29

Psychophysical and cognitive studies carried out in schizophrenic patients show high within-group performance variance and sizable differences between patients and normal volunteers. Experimental manipulation of a target's signal-to-noise characteristics can, however, make a given task more or less difficult for a given subject. Such signal-to-noise manipulations can substantially reduce performance differences between individuals. Frequency and presentation level (volume) changes of an auditory tone can make a sound more or less difficult to recognize. This study determined how the discrimination accuracy of medicated schizophrenic patients and normal volunteers changed when the frequency difference between two tones (high frequency vs. low frequency) and the presentation levels of tones were systematically degraded. The investigators hypothesized that each group would become impaired in its discrimination accuracy when tone signals were degraded by making the frequencies more similar and the presentation levels lower. Schizophrenic patients were slower and less accurate than normal volunteers on tests using four tone levels and two frequency differences; the schizophrenic patient group showed a significant decrement in accuracy when the signal-to-noise characteristics of the target tones were degraded. The benefits of controlling stimulus discrimination difficulty in functional imaging paradigms are discussed.

Type 1 diabetes risk for HLA-DR3 haplotypes depends on genotypic context: Association of DPB1 and HLA class I loci among DR3 and DR4 matched Italian patients and controls

PubMed Central

Noble, Janelle A.; Martin, Adelle; Valdes, Ana M.; Lane, Julie A.; Galgani, Andrea; Petrone, Antonio; Lorini, Renata; Pozzilli, Paolo; Buzzetti, Raffaella; Erlich, Henry A.

2008-01-01

Patients with high-risk HLA-DR-DQ genotypes for type 1 diabetes (T1D) were compared to HLA-matched controls to evaluate T1D risk for other HLA loci, including HLA-A, -B, -Cw, and DPB1. Patients (n=133) with high-risk genotypes (DR3/DR3, DR3/DR4, DR4/DR4) were selected from the Lazio (Rome) region of Italy. Screening of more than 9000 subjects from the Lazio region and northern Italy yielded 162 controls with high- T1D-risk haplotypes. Although the overall distributions were not significantly different, allele frequency differences were discovered between the controls from Lazio and those from Northern Italy for some alleles previously shown to affect T1D risk, such as A*3002, DPB1*0301, and DPB1*0402. Therefore, Lazio patient data were compared both to the Lazio subset of controls (n=53) and to the entire group of controls for association analyses. Significant allele frequency differences between patients and DR-DQ-matched controls were found for specific alleles at all loci. Data for the DR3/DR3 subset of patients and controls showed an increase of Cw*0702 in patients. Reduced patient, compared to control, frequencies were seen for several alleles, including A*0101, B*0801, and Cw*0701, all found on the highly-conserved, extended DR3 haplotype known as 8.1 in DR3/DR3, but not DR3/DR4, subgroup. DPB1*0101, often found on 8.1 haplotypes, was also less frequent in DR3/DR3 patients than controls. Analysis of family-based data from the HBDI repository was consistent with the observed results from the Italian subjects, suggesting the presence of a T1D-protective locus at or near A*0101 and a second T1D-protective locus at or near DPB1*0101. These data suggest that T1D risk conferred by the 8.1 haplotype is genotype dependent. PMID:18486765

Dysregulation of the Descending Pain System in Temporomandibular Disorders Revealed by Low-Frequency Sensory Transcutaneous Electrical Nerve Stimulation: A Pupillometric Study

PubMed Central

Monaco, Annalisa; Cattaneo, Ruggero; Mesin, Luca; Ortu, Eleonora; Giannoni, Mario; Pietropaoli, Davide

2015-01-01

Using computerized pupillometry, our previous research established that the autonomic nervous system (ANS) is dysregulated in patients suffering from temporomandibular disorders (TMDs), suggesting a potential role for ANS dysfunction in pain modulation and the etiology of TMD. However, pain modulation hypotheses for TMD are still lacking. The periaqueductal gray (PAG) is involved in the descending modulation of defensive behavior and pain through μ, κ, and δ opioid receptors. Transcutaneous electrical nerve stimulation (TENS) has been extensively used for pain relief, as low-frequency stimulation can activate µ receptors. Our aim was to use pupillometry to evaluate the effect of low-frequency TENS stimulation of μ receptors on opioid descending pathways in TMD patients. In accordance with the Research Diagnostic Criteria for TMD, 18 females with myogenous TMD and 18 matched-controls were enrolled. All subjects underwent subsequent pupillometric evaluations under dark and light conditions before, soon after (end of stimulation) and long after (recovery period) sensorial TENS. The overall statistics derived from the darkness condition revealed no significant differences in pupil size between cases and controls; indeed, TENS stimulation significantly reduced pupil size in both groups. Controls, but not TMD patients, displayed significant differences in pupil size before compared with after TENS. Under light conditions, TMD patients presented a smaller pupil size compared with controls; the pupil size was reduced only in the controls. Pupil size differences were found before and during TENS and before and after TENS in the controls only. Pupillometry revealed that stimulating the descending opioid pathway with low-frequency sensory TENS of the fifth and seventh pairs of cranial nerves affects the peripheral target. The TMD patients exhibited a different pattern of response to TENS stimulation compared with the controls, suggesting that impaired modulation of the descending pain system may be involved in TMD. PMID:25905862

Aspirin treatment increases the risk of cerebral microbleeds.

PubMed

Ge, Lihong; Niu, Guangming; Han, Xiaodong; Gao, Yang; Wu, Qiong; Wu, Hui; Zhang, Ying; Guo, Dongling

2011-11-01

The objective of the study was to determine the frequency of cerebral microbleeds (CMBs) by using phasesensitive imaging in patients with previous transient ischemic attack (TIA) or stroke who were receiving aspirin treatment. We retrospectively analyzed 300 outpatients with ischemic cerebrovascular disease: 150 had been receiving aspirin treatment for >1 year (patients), and 150 controls had not previously received aspirin. Cerebral microbleeds were defined by a trained observer (blinded to clinical details) according to results of T2-weighted, T1-weighted, diffusion-weighted, and phase-sensitive magnetic resonance imaging (MRI). Numerous vascular risk factors including white matter hyperintensity (WMH), duration of aspirin treatment, age, hypertension or diabetes mellitus were investigated for a possible association with the presence of CMBs in the two groups. The frequency of CMBs (60/150 (40%) vs 18/150 (12%); odds ratio 4.899, p <0.0001) and intracerebral hemorrhage (ICH)(42/150 (28%) vs 2/150 (1%); odds ratio 28.778, p <0.0001) were significantly higher in the patients than in the controls. Among patients, those using aspirin for >5 years(42/68 (62%) showed a higher frequency of CMBs than those receiving aspirin for ≤ 5 years(18/82 (22%); odds ratio 5.744, p<0.0001). WMH (p=0.020/0.030, 0.007/0.000) age (p=0.007/0.000) and hypertension (p=0.000/0.033), in patients and controls respectively, were each associated with CMBs. There was a clear impact of aspirin treatment on CMBs associated with intracerebral hemorrhage in Chinese patients. The frequency of CMBs and hemorrhagic complications was higher in patients treated with long-term aspirin.

Impaired circulating CD4+ LAP+ regulatory T cells in patients with acute coronary syndrome and its mechanistic study.

PubMed

Zhu, Zheng-Feng; Meng, Kai; Zhong, Yu-Cheng; Qi, Liang; Mao, Xiao-Bo; Yu, Kun-Wu; Zhang, Wei; Zhu, Peng-Fei; Ren, Ze-Peng; Wu, Bang-Wei; Ji, Qin-Wei; Wang, Xiang; Zeng, Qiu-Tang

2014-01-01

CD4(+) latency-associated peptide (LAP)(+) regulatory T cells (Tregs) are a newly discovered T cell subset in humans and the role of these cells in patients with acute coronary syndrome (ACS) has not been explored. We designed to investigate whether circulating frequency and function of CD4(+)LAP(+) Tregs are defective in ACS. One hundred eleven ACS patients (acute myocardial infarction and unstable angina) and 117 control patients were enrolled in the study. The control patients consisted of chronic stable angina (CSA) and chest pain syndrome (CPS). The frequencies of circulating CD4(+)LAP(+) Tregs and the expression of the transmembrane protein glycoprotein-A repetitions predominant (GARP) on CD4(+) T cells were determined by flow cytometry. The function of CD4(+)LAP(+) Tregs was detected using thymidine uptake. Serum interleukin-10 (IL-10) and transforming growth factor-β protein (TGF-β) levels were detected using ELISA and expression of GARP mRNA in peripheral blood mononuclear cells (PBMCs) was measured by real time-polymerase chain reaction. We found ACS patients had a significantly lower frequency of circulating CD4(+)LAP(+) Tregs, and the function of these cells was reduced compared to controls. The expression of GARP in CD4(+) T cells and the serum levels of TGF-β in ACS patients were lower than those of control patients. The serum levels of IL-10 were similar between the two cohorts. A novel regulatory T cell subset, defined as CD4(+)LAP(+) T cells is defective in ACS patients.

Contributions of spectral frequency analyses to the study of P50 ERP amplitude and suppression in bipolar disorder with or without a history of psychosis.

PubMed

Carroll, Christine A; Kieffaber, Paul D; Vohs, Jenifer L; O'Donnell, Brian F; Shekhar, Anantha; Hetrick, William P

2008-11-01

The present study investigated event-related brain potential (ERP) indices of auditory processing and sensory gating in bipolar disorder and subgroups of bipolar patients with or without a history of psychosis using the P50 dual-click procedure. Auditory-evoked activity in two discrete frequency bands also was explored to distinguish between sensory registration and selective attention deficits. Thirty-one individuals with bipolar disorder and 28 non-psychiatric controls were compared on ERP indices of auditory processing using a dual-click procedure. In addition to conventional P50 ERP peak-picking techniques, quantitative frequency analyses were applied to the ERP data to isolate stages of information processing associated with sensory registration (20-50 Hz; gamma band) and selective attention (0-20 Hz; low-frequency band). Compared to the non-psychiatric control group, patients with bipolar disorder exhibited reduced S1 response magnitudes for the conventional P50 peak-picking and low-frequency response analyses. A bipolar subgroup effect suggested that the attenuated S1 magnitudes from the P50 peak-picking and low-frequency analyses were largely attributable to patients without a history of psychosis. The analysis of distinct frequency bands of the auditory-evoked response elicited during the dual-click procedure allowed further specification of the nature of auditory sensory processing and gating deficits in bipolar disorder with or without a history of psychosis. The observed S1 effects in the low-frequency band suggest selective attention deficits in bipolar patients, especially those patients without a history of psychosis, which may reflect a diminished capacity to selectively attend to salient stimuli as opposed to impairments of inhibitory sensory processes.

The naming impairment of living and nonliving items in Alzheimer's disease.

PubMed

Montanes, P; Goldblum, M C; Boller, F

1995-01-01

Several studies of semantic abilities in Dementia of the Alzheimer Type (DAT) suggest that their semantic disorders may affect specific categories of knowledge. In particular, the existence of a category-specific semantic impairment affecting, selectively, living things has frequently been reported in association with DAT. We report here results from two naming tasks of 25 DAT patients and two subgroups within this population. The first naming task used 48 black and white line drawings from Snodgrass and Vanderwart (1980) which controlled the visual complexity of stimuli from living and nonliving categories. The second task used 44 colored pictures (to assess the influence of word frequency in living vs. nonliving categories). Within the set of black and white pictures, both DAT patients and controls obtained significantly lower scores on high visual complexity stimuli than on stimuli of low visual complexity. A clear effect of semantic category emerged for DAT patients and controls, with a lower performance on the living category. Within the colored set, pictures corresponding to high frequency words gave rise to significantly higher scores than pictures corresponding to low frequency words. No significant difference emerged between living versus nonliving categories, either in DAT patients or in controls. In the two tasks, the two subgroups of DAT patients presented a different profile of performance and error type. As color constitutes the main difference between the two sets of pictures, our results point to the relevance of this cue in the processing of semantic information, with visual complexity and frequency also being very relevant.

Insomnia in older adults with chronic obstructive pulmonary disease (COPD) in Hong Kong: a case-control study.

PubMed

Xiang, Yu-Tao; Wong, Tak-Shun; Tsoh, Joshua; Ungvari, Gabor S; Correll, Christoph U; Ko, Fanny W S; Hui, David S C; Chiu, Helen F K

2014-06-01

This study aimed to determine the frequency and sociodemographic/clinical correlates of insomnia in Chinese patients aged ≥60 years suffering from chronic obstructive pulmonary disease (COPD). In this case-control study of 142 outpatients with COPD and 218 sex- and age-matched control subjects, COPD patients were recruited from a prospective study sample hospitalized in Hong Kong for acute COPD exacerbation (≥2 major COPD symptoms or >1 major+minor COPD symptoms for ≥2 consecutive days). Controls were recruited from social centres in Hong Kong. Activity of daily living was assessed with the Instrumental Activities of Daily Living Scale, life events were evaluated using the Life Event Scale, depressive symptoms were ascertained with the Geriatric Depression Scale, and quality of life was measured using the Medical Outcomes Study Short Form-12. Early, middle and late insomnia were measured using items 4, 5 and 6 of the Hamilton Rating Scale for Depression. The frequency of ≥1 type of insomnia was 47.2% in patients and 25.7% in controls; frequencies of early, middle and late insomnia in patients were 24.6%, 31.0%, and 26.1%, respectively, compared to 14.7%, 14.7% and 11.9% in controls. Group differences were non-significant after controlling for relevant covariates. However, in multiple logistic regression analysis, more physical illnesses (p = 0.02, OR = 1.3, 95% CI = 1.1-1.7) and more severe depressive symptoms (p = 0.009, OR = 1.1, 95% CI = 1.03-1.3) were independently associated with any type of insomnia in COPD patients, accounting for 21.3% of the variance. A significant proportion of older adult Chinese COPD patients suffer from insomnia that warrants more attention in clinical practice.

Evidence that music listening reduces preoperative patients' anxiety.

PubMed

Lee, Kwo-Chen; Chao, Yu-Huei; Yiin, Jia-Jean; Hsieh, Hsin-Yi; Dai, Wen-Jan; Chao, Yann-Fen

2012-01-01

Patients often exhibit preoperative fear and anxiety that may influence the process of induction and recovery from anesthesia. Music is thought to be an alternative to medication for relief of fear and anxiety. The purpose of the present study was to explore the feasibility of using heart rate (HR) variability (HRV) for evaluating the efficacy of music listening to relieve the patients' anxiety during their stay in the operation room waiting area and to compare the HRV measures with subjective Visual Analogue Scale (VAS) scores. In total, 140 patients were randomly assigned to the experimental (n = 64) or control group (n = 76). The intervention consisted of a 10-min period of exposure to relaxing music delivered through headphones. Anxiety levels were measured by VAS (a 10-point scale) and 5 min of HRV monitoring before and after the music intervention. The music group demonstrated significant reductions in VAS scores, mean HR, low-frequency HRV, and low- to high-frequency ratio and an increase in high-frequency HRV, while patients in the control group showed no changes. The subjective results of patients' VAS anxiety scores were consistent with the objective results of HRV parameters. Listening to music can significantly lower the anxiety levels of patients before surgery. The frequency-domain parameters of HRV can be indicators for monitoring the change in anxiety level of preoperative patients.

Sleep-mediated heart rate variability after bilateral carotid body tumor resection.

PubMed

Niemeijer, Nicolasine D; Corssmit, Eleonora P M; Reijntjes, Robert H A M; Lammers, Gert Jan; van Dijk, J Gert; Thijs, Roland D

2015-04-01

The carotid bodies are thought to play an important role in sleep-dependent autonomic changes. Patients who underwent resection of bilateral carotid body tumors have chronically attenuated baroreflex sensitivity. These subjects provide a unique opportunity to investigate the role of the baroreflex during sleep. One-night ambulatory polysomnography (PSG) recording. Participants' homes. Nine patients with bilateral carotid body tumor resection (bCBR) (four women, mean age 50.4 ± 7.2 years) and nine controls matched for age, gender, and body mass index. N/A. Sleep parameters were obtained from PSG. Heart rate (HR) and its variability were calculated using 30-s epochs. In bCBR patients, HR was slightly but not significantly increased during wake and all sleep stages. The effect of sleep on HR was similar for patients and controls. Low frequency (LF) power of the heart rate variability spectrum was significantly lower in bCBR patients in active wakefulness, sleep stage 1 and REM sleep. No differences were found between patients and controls for high frequency (HF) power and the LF/HF ratio. Bilateral carotid body tumor resection (bCBR) is associated with decreased low frequency power during sleep, suggesting impaired baroreflex function. Despite this, sleep-related heart rate changes were similar between bCBR patients and controls. These findings suggest that the effects of sleep on heart rate are predominantly generated through central, non-baroreflex mediated pathways. © 2015 Associated Professional Sleep Societies, LLC.

Autonomic nervous functions in fetal type Minamata disease patients: assessment of heart rate variability.

PubMed

Oka, Tomoko; Matsukura, Makoto; Okamoto, Miwako; Harada, Noriaki; Kitano, Takao; Miike, Teruhisa; Futatsuka, Makoto

2002-12-01

In order to assess the cardiovascular autonomic nervous functions in patients with fetal type Minamata disease (FMD), we investigated blood pressure (BP), and conducted time and frequency domain analysis of heart rate variability (HRV). Subjects were 9 patients in Meisuien recognized as FMD, and 13 healthy age matched control subjects. HRV and BP were assessed after subjects rested in a supine position for 10 minutes. Electrocardiographic (ECG) data were collected for 3 minutes during natural breathing. Time domain analysis (the average of R-R intervals [Mean RR], standard deviation of R-R intervals [SD RR], coefficient of variation [CV]), and frequency domain analysis by fast Fourier transformation (FFT) (power of low frequency [LF] and high frequency [HF] component, expressed in normalized units[nu]) were then conducted. In the time domain analysis, the mean RR of the FMD group was significantly lower than that of the control group. Neither SD RR nor CV showed significant differences between the two groups, but both tended to be lower in the FMD group. In the frequency domain analysis, the HF component of the FMD group was significantly lower than that of the control group. Pulse pressure (PP) was significantly lower in the FMD subjects. These findings suggest that parasympathetic nervous dysfunction might exist in FMD patients, who were exposed to high doses of methylmercury (MeHg) during the prenatal period. Decrease of PP might be due to degenerative changes of blood vessels driven by exposure to high doses of MeHg.

Functional brain abnormalities in major depressive disorder using the Hilbert-Huang transform.

PubMed

Yu, Haibin; Li, Feng; Wu, Tong; Li, Rui; Yao, Li; Wang, Chuanyue; Wu, Xia

2018-02-09

Major depressive disorder is a common disease worldwide, which is characterized by significant and persistent depression. Non-invasive accessory diagnosis of depression can be performed by resting-state functional magnetic resonance imaging (rs-fMRI). However, the fMRI signal may not satisfy linearity and stationarity. The Hilbert-Huang transform (HHT) is an adaptive time-frequency localization analysis method suitable for nonlinear and non-stationary signals. The objective of this study was to apply the HHT to rs-fMRI to find the abnormal brain areas of patients with depression. A total of 35 patients with depression and 37 healthy controls were subjected to rs-fMRI. The HHT was performed to extract the Hilbert-weighted mean frequency of the rs-fMRI signals, and multivariate receiver operating characteristic analysis was applied to find the abnormal brain regions with high sensitivity and specificity. We observed differences in Hilbert-weighted mean frequency between the patients and healthy controls mainly in the right hippocampus, right parahippocampal gyrus, left amygdala, and left and right caudate nucleus. Subsequently, the above-mentioned regions were included in the results obtained from the compared region homogeneity and the fractional amplitude of low frequency fluctuation method. We found brain regions with differences in the Hilbert-weighted mean frequency, and examined their sensitivity and specificity, which suggested a potential neuroimaging biomarker to distinguish between patients with depression and healthy controls. We further clarified the pathophysiological abnormality of these regions for the population with major depressive disorder.

Irregular head movement patterns in whiplash patients during a trajectory task.

PubMed

Woodhouse, Astrid; Stavdahl, Øyvind; Vasseljen, Ottar

2010-03-01

Patients with whiplash associated disorders (WAD) have shown less accuracy in trajectory head motion compared to asymptomatic controls, which comply with clinical observations. The aim of this study was to investigate whether a trajectory head movement task can differ between WAD patients, chronic non-traumatic neck pain (CNP) patients and asymptomatic controls. Study groups included subjects with WAD (n = 35) with persistent neck pain after a car accident, CNP (n = 45), and asymptomatic controls (n = 48). Head motion was recorded from an unsupported standing position using a 3D Fastrak device. A laser pointer was attached to the head and by moving the head the subjects were asked to trace a figure of eight displayed on the wall at three different paces (slow, moderate and fast). The motion signal was decomposed into 1 Hz frequency bands and angular velocity (deg/s) within each frequency band was calculated. Significantly higher angular RMS velocity was found in the WAD group compared to the two other groups for the slow paced test (3-4 and 4-5 Hz frequency bands) and the moderate paced test (3-4 Hz frequency band) indicating irregular and uncoordinated movements. Angular RMS velocity was associated with pain and dizziness, but only with severe symptom levels. In conclusion, irregular head movements during a complex task were found in the WAD group, indicating altered central sensorimotor processing. The irregularities were found within frequency levels observable to clinicians.

Comorbidity between central disorders of hypersomnolence and immune-based disorders.

PubMed

Barateau, Lucie; Lopez, Régis; Arnulf, Isabelle; Lecendreux, Michel; Franco, Patricia; Drouot, Xavier; Leu-Semenescu, Smaranda; Jaussent, Isabelle; Dauvilliers, Yves

2017-01-03

To assess and compare the frequencies of personal and family history of autoimmune diseases (AID), autoinflammatory disorders (ID), and allergies in a population of patients, adults and children, with narcolepsy type 1 (NT1), narcolepsy type 2 (NT2), and idiopathic hypersomnia (IH), 3 central hypersomnia disorders, and healthy controls. Personal and family history of AID, ID, and allergies were assessed by questionnaire and medical interview in a large cohort of 450 consecutive adult patients (206 NT1, 106 NT2, 138 IH) and 95 pediatric patients (80 NT1) diagnosed according to the third International Classification of Sleep Disorders criteria in national reference centers for narcolepsy in France and 751 controls (700 adults, 51 children) from the general population. Ten adults with NT1 (4.9%) had a comorbid AID vs 3.4% of adult controls, without between-group differences in adjusted models. AID frequency did not differ between children with NT1 and controls. Conversely, compared with controls, AID frequency was higher in adults with NT2 (p = 0.002), whereas ID (p = 0.0002) and allergy (p = 0.003) frequencies were higher in adults with IH. A positive family history of AID was found in the NT1 group and of ID in the IH group. NT1 is not associated with increased risk of comorbid immune disorders, in favor of a potentially unique pathophysiology. Conversely, compared with controls, the frequency of autoimmune diseases was higher in adults with NT2, whereas allergies and autoinflammatory disorders were more common in adults with IH, suggesting an immune dysregulation mechanism in these conditions. © 2016 American Academy of Neurology.

Micronucleus frequency in women with genital Chlamydia Trachomatis infection before and after therapy.

PubMed

Dimitrijević, A; Milosević-Djordjević, O; Grujicić, D; Arsenijević, S

2006-09-19

The main aim of the present study was to investigate the influence of infection with the intracellular bacterium Chlamydia trachomatis, and subsequent treatments with oral doxycycline or azithromycin on the frequency of micronuclei (MN) in peripheral blood lymphocytes of adult female patients receiving standard doses of these drugs. The frequency of micronuclei was measured in the lymphocytes of 38 newly diagnosed adult women with genital C. trachomatis infection. Samples were taken before and after the therapy, and from 50 healthy control females. The therapy was taken orally during 10 days at 2 x 100 mg per day, and then for another 10 days at 1 x 100 mg per day for doxycycline, and as a single dose of 1g for azithromycin. Isolated lymphocytes from all subjects were cultured by use of the whole-blood method and blocked in metaphase with cytochalasin B (Cyt B). One thousand binucleate cells per subject were scored according to published criteria. The frequency of micronuclei was not significantly higher in samples of infected females before therapy, compared with the baseline frequency in healthy control females (p > 0.05). In patients who received doxycycline, the micronucleus frequency after the end of therapy was significantly higher than before treatment (p < 0.001). The mean frequency of micronuclei in females after the end of the therapy with azithromycin did not show an increase (p > 0.05). The application of linear regression analysis showed that the difference in micronucleus frequency before and after therapy (effect of the antibiotics) was affected by the therapy type. Age and smoking did not affect micronucleus frequency in analyzed samples of patients (p = 0.078, 0.579). We conclude that C. trachomatis infection does not induce micronuclei in peripheral blood lymphocytes of infected adult female patients. Therapy with doxycycline significantly increases the micronucleus frequency in lymphocytes of treated patients, but treatment with azithromycin does not induce micronuclei.

No association of dopamine D2 receptor molecular variant Cys311 and schizophrenia in Chinese patients

DOE Office of Scientific and Technical Information (OSTI.GOV)

Chia-Hsiang Chen; Shih-Hsiang Chien; Hai-Gwo Hwu

A serine-to-cysteine mutation of dopamine D2 receptor at codon 311 (Cys311) was found to have higher frequency in schizophrenic patients than in normal controls in Japanese by Arinami et al. The Cys311 allele was found to be associated with patients with younger age-of-onset, positive family history, and more positive symptoms. To investigate the possible involvement of Cys311 in schizophrenia in the Chinese population, 114 unrelated Taiwanese Chinese schizophrenic patients with positive family history and 88 normal controls were genotyped for Cys311. Four patients and 5 normal controls were heterozygotes of Ser311/Cys311; no homozygotes of Cys311 were identified in either group.more » The allele frequencies of Cys311 in Chinese schizophrenic patients and normal controls were 2% and 3%, respectively. No significant difference was detected between the two groups. Our results do not support the argument that the Cys311 allele of DRD2 poses a genetic risk for certain types of schizophrenia in Chinese populations. 18 refs.« less

Intravenous cannulation of adolescents does not affect the modulation of autonomic tone assessed by heart rate and blood pressure variability.

PubMed

Stewart, J M

2000-02-01

Invasive arterial monitoring alters autonomic tone. The effects of intravenous (i.v.) insertion are less clear. The author assessed the effects of i.v. insertion on autonomic activity in patients aged 11 to 19 years prior to head-up tilt by measuring heart rate, blood pressure, heart rate variability, blood pressure variability, and baroreceptor gain before and after i.v. insertion with continuous electrocardiography and arterial tonometry in patients with orthostatic tachycardia syndrome (OTS, N = 21), in patients who experienced simple fainting (N = 14), and in normal control subjects (N = 6). Five-minute samples were collected after 30 minutes supine. Fifteen minutes after i.v. insertion, data were collected again. These 5-minute samples were also collected in a separate control population without i.v. insertion after 30 minutes supine and again 30 minutes later. This population included 12 patients with OTS, 13 patients who experienced simple fainting, and 6 normal control subjects. Heart rate variability included the mean RR, the standard deviation of the RR interval (SDNN), and the root mean square of successive RR differences (RMSSD). Autoregressive spectral modeling was used. Low-frequency power (LFP, 0.04-0.15 Hz), high-frequency power (HFP, 0.15-0.40 Hz), and total power (TP, 0.01-0.40 Hz) were compared. Blood pressure variability included standard deviation of systolic blood pressure, LFP, and HFP. Baroreceptor gain at low frequency and high frequency was calculated from cross-spectral transfer function magnitudes when coherence was greater than 0.5. In patients with OTS, RR (790 +/- 50 msec), SDNN (54 +/- 6 msec), RMSSD (55 +/- 5 msec), LFP (422 +/- 200 ms2/Hz), HFP (846 +/- 400 ms2/Hz), and TP (1550 +/- 320 ms2/Hz) were less than in patients who experienced simple fainting (RR, 940 +/- 50 msec; SDNN, 84 +/- 10 msec; RMSSD, 91 +/- 7 msec; LFP, 880 +/- 342 ms2/Hz; HFP, 1720 +/- 210 ms2/Hz; and TP, 3228 +/- 490 ms2/Hz) or normal control subjects (RR, 920 +/- 30 msec; SDNN, 110 +/- 29 msec; RMSSD, 120 +/- 16 msec; LFP, 1600 +/- 331 ms2/Hz; HFP, 2700 +/- 526 ms2/Hz; and TP, 5400 +/- 1017 ms2/Hz). Blood pressure and blood pressure variability were not different in any group. Standard deviation, LFP, and HFP were, respectively, 5.24 +/- 0.8 mm Hg, 1.2 +/- 0.2, and 1.5 +/- 0.3 for patients with OTS; 4.6 +/- 0.4 mm Hg, 1.2 +/- 0.2, and 1.4 +/- 0.3 for patients who experienced simple fainting; and 5.55 +/- 1.0 mm Hg, 1.4 +/- 0.2, and 1.6 +/- 0.3 for normal control subjects. Baroreceptor gain at low frequency and high frequency in patients with OTS (16 +/- 4 msec/mm Hg, 17 +/- 5) was comparable to that in patients who experienced simple fainting (33 +/- 4, 32 +/- 3) and that in normal control subjects (31 +/- 8, 37 +/- 9). Heart rate variability differed between patients with OTS and patients who experienced simple fainting or normal control subjects, and blood pressure and blood pressure variability were not different, but no parameter changed after i.v. insertion. There were no differences from the groups that did not receive i.v. insertions. Data suggest, at most, a limited effect of i.v. insertion on autonomic function in adolescents.

Human leukocyte antigen-C and killer cell immunoglobulin-like receptor gene polymorphisms among patients with syphilis in a Chinese Han population.

PubMed

Zhuang, Yun-Long; Ren, Gui-Jie; Tian, Ke-Li; Li, Xin-Ye; Zhu, Yong-Bao; Liu, Jin-Ling; Si, Gui-Ling; Li, Peng; Zhang, Yi; Wang, Li; Zhang, Wen-Jing; Wang, Da-Jian; Zhu, Chuan-Fu

2012-10-01

Syphilis is a sexually transmitted infection caused by the Treponema pallidum subspecies pallidum spirochete bacterium. The killer cell immunoglobulin-like receptors (KIR), interacting with human leukocyte antigens (HLA), regulate the activations of natural killer (NK) cells and certain T-cell subsets in response to microbe infection. The objective of this study was to explore whether KIR and HLA-C gene polymorphisms were associated with syphilis in a Chinese Han population. Polymerase chain reaction with sequence-specific primers (PCR-SSP) method was used to genotype KIR and HLA-C genes in 231 syphilis patients and 247 healthy controls. Framework genes KIR2DL4, KIR3DL2, KIR3DL3 and KIR3DP1 were present in all individuals. The frequencies of KIR2DS3 and KIR3DS1 were higher in syphilis patients than in healthy controls (p = 0.030 and p = 0.038, respectively), while the frequency of KIR2DS5 was higher in healthy controls than in syphilis patients (p = 0.015; OR = 0.575). The homozygote for HLA-C1 allele (HLA-C1C1) was more common in controls compared with syphilis patients (p = 0.030; OR = 0.667). The frequency of individuals with HLA-C1C1 and KIR2DL3 genotype was higher in control group relative to syphilis patient group (p = 0.018; OR = 0.647). These data indicated that KIR2DS3 and KIR3DS1 were more prevalent in syphilis patients than in controls, and that KIR2DS5, HLA-C1C1 and HLA-C1C1-KIR2DL3 were more prevalent in controls than in syphilis patients, respectively. These will require further investigation using functional studies. © 2012 The Authors APMIS © 2012 APMIS.

Synchronizing theta oscillations with direct-current stimulation strengthens adaptive control in the human brain.

PubMed

Reinhart, Robert M G; Zhu, Julia; Park, Sohee; Woodman, Geoffrey F

2015-07-28

Executive control and flexible adjustment of behavior following errors are essential to adaptive functioning. Loss of adaptive control may be a biomarker of a wide range of neuropsychiatric disorders, particularly in the schizophrenia spectrum. Here, we provide support for the view that oscillatory activity in the frontal cortex underlies adaptive adjustments in cognitive processing following errors. Compared with healthy subjects, patients with schizophrenia exhibited low frequency oscillations with abnormal temporal structure and an absence of synchrony over medial-frontal and lateral-prefrontal cortex following errors. To demonstrate that these abnormal oscillations were the origin of the impaired adaptive control in patients with schizophrenia, we applied noninvasive dc electrical stimulation over the medial-frontal cortex. This noninvasive stimulation descrambled the phase of the low-frequency neural oscillations that synchronize activity across cortical regions. Following stimulation, the behavioral index of adaptive control was improved such that patients were indistinguishable from healthy control subjects. These results provide unique causal evidence for theories of executive control and cortical dysconnectivity in schizophrenia.

The correlational research among serum CXCL13 levels, circulating plasmablasts and memory B cells in patients with systemic lupus erythematosus: A STROBE-compliant article.

PubMed

Fang, Chenglong; Luo, Tingting; Lin, Ling

2017-12-01

We investigated whether serum CXC ligand 13 protein (CXCL13) levels correlate with the circulating plasmablasts and memory B-cells alteration in systemic lupus erythematosus (SLE) patients. The diagnostic use of CXCL13 concentrations in active lupus was also analyzed.A total of 36 SLE patients and 18 healthy controls were included. Serum CXCL13 levels were examined by enzyme-linked immunosorbent assay. The frequency and absolute count of circulating plasmablasts and memory B cells were analyzed by flow cytometry. Receiver operating characteristic curves (ROC curves) were generated to analyze the utility of serum CXCL13 level and plasmablasts frequency as tools for the recognition of active SLE.Elevation of serum CXCL13 levels, higher plasmablasts frequency, and reduction of memory B-cells count were observed in SLE patients, compared with healthy controls. Interestingly, correlational analyses showed not only significantly positive association between CXCL13 levels and SLE Disease Activity Index (SLEDAI) or plasmablasts frequency, but an inverse correlation between CXCL13 concentration and memory B-cell count. ROC curves showed that serum CXCL13 level and plasmablasts frequency were practical in identifying active disease from overall SLE patients, with considerable accuracy.Serum CXCL13 levels correlate with the alteration of plasmablasts and memory B cells in SLE. CXCL13 may be used as a practical tool in judgment of active SLE.

[Significance of the alteration of Th17 cells in patients with chronic lymphocytic thyroiditis].

PubMed

Song, Jin-Zhan; Wu, Han-Ni; Qian, Wei

2009-10-01

To investigate the alteration and its significance of T help 17 cells (Th17) in patients with chronic lymphocytic thyroiditis (CLT). Patients were divided into 3 groups: CLT patients with euthyroidism (n=15), CLT patients with hypothyroidism (n=30) and healthy control group (n=20). The ratio of Th17 lymphocytes subpopulations in the peripheral blood were evaluated by technique of flow cytometry. Production of thyroid autoantibody (TPO-Ab, TG-Ab) were measured by electro-chemiluminescence immunoassay (ECLIA). Compared with the healthy control group, in CLT group: The frequencies of Th17 in peripheral blood were found to be significantly higher in patients with CLT than healthy control group (P<0.01); Production of TPO-Ab and TG-Ab markedly increased in CLT patients than healthy control group (P<0.01). There was significant correlation between the positive expression of thyroid autoantibody and the changes of Th17 subpopulations (r=0.50, r=0.43 respectively; P<0.01). The frequencies of Th17 cell increased in patients with CLT which may suggest a potential role for Th17 in the progression and happen of CLT.

TPH2 -703G/T SNP may have important effect on susceptibility to suicidal behavior in major depression.

PubMed

Yoon, Ho-Kyoung; Kim, Yong-Ku

2009-04-30

Serotonergic system-related genes can be good candidate genes for both major depressive disorder (MDD) and suicidal behavior. In this study, we aimed to investigate the association of serotonin 2A receptor gene -1438A/G SNP (HTR2A -1438A/G), tryptophan hydroxylase 2 gene -703G/T SNP (TPH2 -703G/T) and serotonin 1A receptor C-1019G (HTR1A C-1019G) with suicidal behavior. One hundred and eighty one suicidal depressed patients and 143 non-suicidal depressed patients who met DSM-IV criteria for major depressive disorder were recruited from patients who were admitted to Korea University Ansan Hospital. One hundred seventy six normal controls were healthy volunteers who were recruited by local advertisement. Patients and normal controls were genotyped for HTR2A -1438A/G, TPH2 -703G/T and 5-HT1A C-1019G. The suicidal depressed patients were evaluated by the lethality of individual suicide attempts using Weisman and Worden's risk-rescue rating (RRR) and the Lethality Suicide Attempt Rating Scale-updated (LSARS-II). In order to assess the severity of depressive symptoms of patients, Hamilton's Depression Rating Scale (HDRS) was administered. Genotype and allele frequencies were compared between groups by chi(2) statistics. Association of genotype of the candidate genes with the lethality of suicidal behavior was examined with ANOVA by comparing the mean scores of LSARS and RRR according to the genotype. There were statistically significant differences in the genotype distributions and allele frequencies of TPH2 -703G/T between the suicidal depressive group and the normal control group. The homozygous allele G (G/G genotype) frequency was significantly higher in suicidal depressed patients than in controls. However, no differences in either genotype distribution or in allele frequencies of HTR2A -1438A/G and HTR1A C-1019G were observed between the suicidal depressed patients, the non-suicidal depressed patients, and the normal controls. There were no differences in the lethality of suicidal behavior in suicidal depressed patients according to the genotypes of three polymorphisms. Our results suggest that TPH2 -703G/T SNP may have an important effect on susceptibility to suicidal behavior. Furthermore, an increased frequency of G allele of TPH2 SNP may be associated with elevated suicidal behavior itself rather than with the diagnosis of major depression and may increase risk of suicidality, independent of diagnosis.

Ex-vivo characterization of regulatory T cells in pulmonary tuberculosis patients, latently infected persons, and healthy endemic controls.

PubMed

Zewdie, Martha; Howe, Rawleigh; Hoff, Søren T; Doherty, T Mark; Getachew, Nahom; Tarekegne, Azeb; Tessema, Bamlak; Yamuah, Lawrence; Aseffa, Abraham; Abebe, Markos

2016-09-01

Regulatory T cells (Treg) are an essential arm of adaptive immunity not only in tolerance and autoimmunity but also in infectious diseases. In Tuberculosis (TB), it has been suggested that the frequency of Tregs is higher in the blood of TB patients when compared to healthy controls with subsequent decline after treatment. However, with the discovery that FOXP3, the hallmark marker of Tregs, is not exclusive to Tregs and the lack of specific markers for Tregs, it has been a challenge to fully understand the role of Tregs in TB. We isolated PBMC from smear positive TB patients (TB, N = 13) before and after treatment, latent TB infected participants (LTBI, N = 8), and healthy endemic controls (EC, N = 9) and evaluated the frequency of different populations of Tregs and expression of FOXP3 by flowcytometry using six markers. The findings in this study showed that the association of Treg frequency with TB disease depends on the phenotypic markers used. While the frequency of CD4(+)CD25(+/hi) T cells was higher in TB patients compared to LTBI individuals, there was no difference in the frequency of CD4(+)CD25(+)FOXP3(+)CD127(lo) Treg among TB, LTBI, or EC. However, delineation of Tregs into active and naïve subsets revealed a significant increase in FOXP3 expression in active primed Tregs (CD4(+)CD25(+)FOXP3(+)CD127(lo)CD45RO(+)Ki-67(+)) of TB patients compared to LTBI and EC; and a significantly higher frequency of resting primed (CD45RO(+)Ki-67(-)) Treg in QuantiFERON negative EC compared to TB patients. After treatment completion, there was a significant decline in the frequency of active primed Treg, median (IQR) from 12.4% (9.5-21.9) of Tregs to 9.3% (7.0-12.2); P = 0.003 Wilcoxon signed rank test. We conclude that Treg subsets may be differentially regulated and expressed in TB disease, cure, and infection. Copyright © 2016 Elsevier Ltd. All rights reserved.

Ex-vivo characterization of regulatory T cells in pulmonary tuberculosis patients, latently infected persons, and healthy endemic controls

PubMed Central

Zewdie, Martha; Howe, Rawleigh; Hoff, Søren T.; Doherty, T. Mark; Getachew, Nahom; Tarekegne, Azeb; Tessema, Bamlak; Yamuah, Lawrence; Aseffa, Abraham; Abebe, Markos

2016-01-01

SUMMARY Background Regulatory T cells (Treg) are an essential arm of adaptive immunity not only in tolerance and autoimmunity but also in infectious diseases. In Tuberculosis (TB), it has been suggested that the frequency of Tregs is higher in the blood of TB patients when compared to healthy controls with subsequent decline after treatment. However, with the discovery that FOXP3, the hallmark marker of Tregs, is not exclusive to Tregs and the lack of specific markers for Tregs, it has been a challenge to fully understand the role of Tregs in TB. Method We isolated PBMC from smear positive TB patients (TB, N = 13) before and after treatment, latent TB infected participants (LTBI, N = 8), and healthy endemic controls (EC, N = 9) and evaluated the frequency of different populations of Tregs and expression of FOXP3 by flowcytometry using six markers. Results The findings in this study showed that the association of Treg frequency with TB disease depends on the phenotypic markers used. While the frequency of CD4+CD25+/hi T cells was higher in TB patients compared to LTBI individuals, there was no difference in the frequency of CD4+CD25+FOXP3+CD127lo Treg among TB, LTBI, or EC. However, delineation of Tregs into active and naïve subsets revealed a significant increase in FOXP3 expression in active primed Tregs (CD4+CD25+FOXP3+CD127loCD45RO+Ki-67+) of TB patients compared to LTBI and EC; and a significantly higher frequency of resting primed (CD45RO+Ki-67−) Treg in QuantiFERON negative EC compared to TB patients. After treatment completion, there was a significant decline in the frequency of active primed Treg, median (IQR) from 12.4% (9.5–21.9) of Tregs to 9.3% (7.0–12.2); P = 0.003 Wilcoxon signed rank test. We conclude that Treg subsets may be differentially regulated and expressed in TB disease, cure, and infection. PMID:27553411

Interferon-gamma +874 T/A and interleukin-10 -1082 A/G single nucleotide polymorphism in Egyptian children with tuberculosis.

PubMed

Mosaad, Y M; Soliman, O E; Tawhid, Z E; Sherif, D M

2010-10-01

The aim was to investigate the association of interferon-gamma (IFN-γ) +874 T/A and interleukin-10 (IL-10)-1082 A/G single nucleotide polymorphisms with tuberculous infection and post-BCG lymphadenitis in Egyptian children. IFN-γ +874 T/A and IL-10 -1082 A/G polymorphism detection by amplification refractory mutation system technique was carried out for 110 patients with TB, 40 patients with post-BCG lymphadenitis and 118 healthy controls. IFN-γ +874 A allele was higher in TB and post-BCG patients than those in healthy controls (Pc=0.006 and 0.002, respectively). IFN-γ +874 genotype AA was significantly higher in patients with TB than that in control (Pc=0.015), in extrapulmonary than patients with pulmonary TB (PTB) (Pc=0.009), and young children with TB below 5 years (Pc=0.024). No statistically significant differences were observed between patients with TB and controls for the frequency of IL-10(-1082) alleles or genotypes (P>0.05); however, a statistically significant difference in the frequency of IL-10 (-1082) GG genotype was found between patients with pulmonary and extrapulmonary TB (Pc=0.003). Low producer IFN-γ +874 A/A genotype is associated with post-BCG lymphadenitis and TB disease especially in younger children below 5 years. IL-10-1082 G/G genotype did not exhibit significant association except for increased GG frequency in PTB. Both cytokine polymorphisms have no relation to tuberculin reaction in patients with TB. © 2010 The Authors. Scandinavian Journal of Immunology © 2010 Blackwell Publishing Ltd.

Restless Leg Syndrome and Sleep Quality in Lumbar Radiculopathy Patients

PubMed Central

Terzi, Murat; Akpinar, Kursad; Paksoy, Kemal; Cebeci, Ibrahim; Iyigun, Omer

2014-01-01

Background. To investigate the frequency of restless leg syndrome (RLS), sleep quality impairment, depression, fatigue, and sleep behavior disorder and to determine the effects of surgery on these parameters in radiculopathy patients resistant to conservative treatment. Methods. The present study included 66 lumbar radiculopathy patients, who were resistant to conservative treatment and had indication of surgery. Five different questionnaires were performed to assess depression (the Beck Depression Inventory (BDI)), sleep quality (the Pittsburgh Sleep Quality Index (PSQI)), fatigue (the Fatigue Severity Scale (FSS)), and presence of RLS and rapid eye movement sleep behavior disorder (RBD). The same questionnaires were also performed on a control group (n = 61). Results. Of the radiculopathy patients, 68.1% had RLS and 92.4% had fatigue. Of the controls, 16.4% had RLS and 59% had fatigue. RBD was present in 8 (12.1%) patients and 3 (4.9%) controls. The PSQI revealed that sleep quality was impaired in 46 (69.7%) patients and 35 (57.4%) controls (P > 0.05). The number of individuals having substantial depression according to the BDI was significantly higher in the patients than in the controls. Conclusions. There was a significant increase in the frequency of RLS, which was significantly decreased in the postoperative period in the radiculopathy patients. PMID:25110396

High Frequency of Early Repolarization and Brugada-Type Electrocardiograms in Hypercalcemia.

PubMed

Sonoda, Keiko; Watanabe, Hiroshi; Hisamatsu, Takashi; Ashihara, Takashi; Ohno, Seiko; Hayashi, Hideki; Horie, Minoru; Minamino, Tohru

2016-01-01

J wave, or early repolarization has recently been associated with an increased risk of lethal arrhythmia and sudden death, both in idiopathic ventricular fibrillation and in the general population. Hypercalcemia is one of the causes of J point and ST segment elevation, but the relationship has not been well studied. The aim of this study was to examine the effects of hypercalcemia on J point elevation. Electrocardiographic findings were compared in 89 patients with hypercalcemia and 267 age- and sex-matched healthy controls with normocalcemia. The association of J point elevation with arrhythmia events in patients with hypercalcemia was also studied. The PR interval and the QRS duration were longer in patients with hypercalcemia than in normocalcemic controls. Both the QT and the corrected QT intervals were shorter in patients with hypercalcemia compared with normocalcemic controls. Conduction disorders, ST-T abnormalities, and J point elevation were more common in patients with hypercalcemia than normocalcemic controls. Following the resolution of hypercalcemia, the frequency of J point elevation decreased to a level similar to that noted in controls. During hospitalization, no arrhythmia event occurred in patients with hypercalcemia. Hypercalcemia was associated with J point elevation. © 2015 Wiley Periodicals, Inc.

Accompanying migrainous features in pediatric migraine patients with restless legs syndrome.

PubMed

Sevindik, Melis Sohtaoğlu; Demirci, Seden; Göksan, Baki; Özge, Aynur; Savrun, Feray Karaali; Onur, Hatice; Yıldırım, Veli; Simsek, Ismail; Ozhan, Harika; Uludüz, Derya

2017-09-01

The present study aimed to examine the frequency of restless legs syndrome (RLS) in pediatric patients with migraine and tension-type headache (TTH) and to investigate accompanying migrainous symptoms, sleep characteristics, as well as levels of serum ferritin between the pediatric migraine patients with RLS and those without RLS. We included 65 consecutive patients diagnosed with migraine, 20 patients with TTH, and 97 headache-free children in our study. Demographic, clinical, and laboratory data were noted. The presence of a primary headache was diagnosed using the ICHD-II criteria, and RLS was determined with face-to-face interviews conducted by an experienced neurologist based on the revised International RLS Study Group criteria for pediatrics. The frequency of RLS in pediatric migraine and TTH patients was significantly higher than in the controls (p = 0.0001 and p = 0.025, respectively). The frequencies of allodynia, vertigo/dizziness, and self-reported frequent arousals were significantly higher, and serum ferritin levels were significantly lower in migraine patients with RLS compared to those without RLS (p = 0.05, p = 0.028, p = 0.02, and p = 0.038, respectively). Our study suggests that the frequency of RLS is higher in pediatric migraine and TTH patients compared to controls. Therefore, pediatric headache patients should be questioned about the presence of RLS, as this co-occurrence may lead to more frequent accompanying migrainous symptoms and sleep disturbances.

Association of aplastic anemia and FoxP3 gene polymorphisms in Koreans.

PubMed

In, Ji Won; Lee, Nuri; Roh, Eun Youn; Shin, Sue; Park, Kyoung Un; Song, Eun Young

2017-04-01

Aplastic anemia (AA) is characterized by pancytopenia and bone marrow failure, and most acquired AA is an immune-mediated disorder. Regulatory T cells (T regs ) suppressing autoreactive T cells were decreased in AA patients. FoxP3 is a major regulator for the development and function of T regs . Polymorphism in FoxP3 was shown to be associated with various autoimmune diseases, however, has not yet been studied in AA. In this study, we examined the association between FoxP3 polymorphisms and AA in Korean patients. The study population consisted of 94 patients diagnosed by bone marrow examination in Seoul National University Hospital (SNUH) during 1997-2012 and 195 healthy controls. FoxP3 polymorphisms (rs5902434 del/ATT, rs3761548 C/A, rs3761549 C/T, rs2232365 A/G) were analyzed by PCR-sequencing method. We analyzed differences of genotype and allele frequencies between patients and controls. We also compared differences of genotype and allele frequencies between responder and non-responder in patients treated with immunosuppressive therapy (IST). For the statistical analysis, the chi-square test and Fisher's exact test were used and P < 0.05 was regarded as statistically significant. There was no significant difference in the genotype frequencies of FoxP3 polymorphisms between patients and controls. With regards to the allele frequencies, rs3761548 C allele was significantly higher in AA patients than in controls (87.4% vs. 79.7%, P = 0.047). In patients treated with IST, rs3761549 C allele was significantly higher in non-responder patients than in responders (89.6% vs. 66.7%, P = 0.036) and female rs3761549 C/C genotype carriers were associated with greater risk for non-response to IST (84.2% vs. 16.7%, P = 0.006). Polymorphisms in rs3761548 and rs3761549 of FoxP3 in our population were associated with disease susceptibility and response for IST, respectively. This study suggests an association between FoxP3 polymorphisms and AA in Korean patients and will be useful in further understanding the genetic basis of disease susceptibility and response to IST in AA patients.

Integrating frequency and magnitude information in decision-making in schizophrenia: An account of patient performance on the Iowa Gambling Task.

PubMed

Brown, Elliot C; Hack, Samantha M; Gold, James M; Carpenter, William T; Fischer, Bernard A; Prentice, Kristen P; Waltz, James A

2015-01-01

The Iowa Gambling Task (IGT; Bechara et al., 1994) has frequently been used to assess risky decision making in clinical populations, including patients with schizophrenia (SZ). Poor performance on the IGT is often attributed to reduced sensitivity to punishment, which contrasts with recent findings from reinforcement learning studies in schizophrenia. In order to investigate possible sources of IGT performance deficits in SZ patients, we combined data from the IGT from 59 SZ patients and 43 demographically-matched controls with data from the Balloon Analog Risk Task (BART) in the same participants. Our analyses sought to specifically uncover the role of punishment sensitivity and delineate the capacity to integrate frequency and magnitude information in decision-making under risk. Although SZ patients, on average, made more choices from disadvantageous decks than controls did on the IGT, they avoided decks with frequent punishments at a rate similar to controls. Patients also exhibited excessive loss-avoidance behavior on the BART. We argue that, rather than stemming from reduced sensitivity to negative consequences, performance deficits on the IGT in SZ patients are more likely the result of a reinforcement learning deficit, specifically involving the integration of frequencies and magnitudes of rewards and punishments in the trial-by-trial estimation of expected value. Copyright © 2015 Elsevier Ltd. All rights reserved.

Integrating frequency and magnitude information in decision-making in schizophrenia: An account of patient performance on the Iowa Gambling Task

PubMed Central

Brown, Elliot C.; Hack, Samantha M.; Gold, James M.; Carpenter, William T.; Fischer, Bernard A.; Prentice, Kristen P.; Waltz, James A.

2015-01-01

Background The Iowa Gambling Task (IGT; Bechara, Damasio, Damasio, & Anderson, 1994) has frequently been used to assess risky decision making in clinical populations, including patients with schizophrenia (SZ). Poor performance on the IGT is often attributed to reduced sensitivity to punishment, which contrasts with recent findings from reinforcement learning studies in schizophrenia. Methods In order to investigate possible sources of IGT performance deficits in SZ patients, we combined data from the IGT from 59 SZ patients and 43 demographically-matched controls with data from the Balloon Analog Risk Task (BART) in the same participants. Our analyses sought to specifically uncover the role of punishment sensitivity and delineate the capacity to integrate frequency and magnitude information in decision-making under risk. Results Although SZ patients, on average, made more choices from disadvantageous decks than controls did on the IGT, they avoided decks with frequent punishments at a rate similar to controls. Patients also exhibited excessive loss-avoidance behavior on the BART. Conclusions We argue that, rather than stemming from reduced sensitivity to negative consequences, performance deficits on the IGT in SZ patients are more likely the result of a reinforcement learning deficit, specifically involving the integration of frequencies and magnitudes of rewards and punishments in the trial-by-trial estimation of expected value. PMID:25959618

Vocal Behavior in Environmental Noise: Comparisons Between Work and Leisure Conditions in Women With Work-related Voice Disorders and Matched Controls.

PubMed

Szabo Portela, Annika; Granqvist, Svante; Ternström, Sten; Södersten, Maria

2018-01-01

This study aimed to assess vocal behavior in women with voice-intensive occupations to investigate differences between patients and controls and between work and leisure conditions with environmental noise level as an experimental factor. Patients with work-related voice disorders, 10 with phonasthenia and 10 with vocal nodules, were matched regarding age, profession, and workplace with 20 vocally healthy colleagues. The sound pressure level of environmental noise and the speakers' voice, fundamental frequency, and phonation ratio were registered from morning to night during 1 week with a voice accumulator. Voice data were assessed in low (≤55 dBA), moderate, and high (>70 dBA) environmental noise levels. The average environmental noise level was significantly higher during the work condition for patients with vocal nodules (73.9 dBA) and their controls (73.0 dBA) compared with patients with phonasthenia (68.3 dBA) and their controls (67.1 dBA). The average voice level and the fundamental frequency were also significantly higher during work for the patients with vocal nodules and their controls. During the leisure condition, there were no significant differences in average noise and voice level nor fundamental frequency between the groups. The patients with vocal nodules and their controls spent significantly more time and used their voices significantly more in high-environmental noise levels. High noise levels during work and demands from the occupation impact vocal behavior. Thus, assessment of voice ergonomics should be part of the work environmental management. To reduce environmental noise levels is important to improve voice ergonomic conditions in communication-intensive and vocally demanding workplaces. Copyright © 2018 The Voice Foundation. Published by Elsevier Inc. All rights reserved.

HLA-DRB1 Alleles Are Associated with the Susceptibility to Sporadic Parkinson’s Disease in Chinese Han Population

PubMed Central

Sun, Congcong; Wei, Lei; Luo, Feifei; Li, Yi; Li, Jiaobiao; Zhu, Feiqi; Kang, Ping; Xu, Rensi; Xiao, LuLu; Liu, Zhuolin; Xu, Pingyi

2012-01-01

Immune disorders may play an important role in the pathogenesis of Parkinson's disease (PD). Recently, polymorphisms in the HLA-DR region have been found to be associated with sporadic PD in European ancestry populations. However, polymorphisms in the HLA complex are highly variable with ethnic and geographic origin. To explore the relationships between polymorphisms of the HLA-DR region and sporadic PD in Chinese Han population, we genotyped 567 sporadic PD patients and 746 healthy controls in two independent series for the HLA-DRB1 locus with Polymerase chain reaction-sequence based typing(PCR-SBT). The χ2 test was used to evaluate the distribution of allele frequencies between the patients and healthy controls. The impact of HLA-DRB1 alleles on PD risk was estimated by unconditional logistic regression. We found a significant higher frequency of HLA-DRB1*0301 in sporadic PD patients than in healthy controls and a positive association, which was independent of onset age, between HLA-DRB1*0301 and PD risk. Conversely, a lower frequency of HLA-DRB1*0406 was found in sporadic PD patients than in healthy controls, with a negative association between HLA-DRB1*0406 and PD risk. Furthermore, a meta-analysis involving 195205 individuals was conducted to summarize the frequencies of these two alleles in populations from various ethnic regions, we found a higher frequency of HLA-DRB1*0301, but a lower frequency of HLA-DRB1*0406 in European ancestry populations than that in Asians, this was consistent with the higher prevalence of sporadic PD in European ancestry populations. Based on these results, we speculate that HLA-DRB1 alleles are associated with the susceptibility to sporadic PD in Chinese Han population, among them HLA-DRB1*0301 is a risk allele while the effect of HLA-DRB1*0406 deserves debate. PMID:23139797

Postural control is altered in patients with ankylosing spondylitis.

PubMed

Vergara, Martin E; O'Shea, Finbar D; Inman, Robert D; Gage, William H

2012-05-01

Ankylosing spondylitis is a chronic inflammatory disorder that can lead to increased axial and peripheral joint stiffness, impairing joint mobility. Impaired axial mobility due to vertebral ankylosis may result in changes in standing postural control. Little research has addressed changes in standing postural control in the ankylosing spondylitis population, nor how these issues might affect clinical understanding and treatment. Sixteen ankylosing spondylitis patients, and 17 healthy controls participated. Each individual completed two 120-second quiet standing trials with eyes open and eyes closed, while standing upon two force platforms. Net center of pressure displacement and mean power frequency in the frontal and sagittal planes were calculated. A Spearman's rank correlation analysis was performed between net center of pressure measures and several clinical measures of disease activity. Frontal plane net center of pressure displacement and frequency content, and sagittal plane net center of pressure displacement were significantly greater within the ankylosing spondylitis patient group. Ankylosing spondylitis patients demonstrated a significant increase in frontal plane net center of pressure displacement in the eyes-closed condition. Net center of pressure displacement and frequency were significantly correlated to the Bath Ankylosing Spondylitis Functional Index, and individual components of the Bath Ankylosing Spondylitis Metrology Index. Quiet standing postural control was altered particularly so in the frontal plane in patients with ankylosing spondylitis, which may be associated with increased fall risk. Posturographic measures of postural control may serve as valuable clinical tools for the monitoring of disease progression and disease status in ankylosing spondylitis. Copyright © 2011 Elsevier Ltd. All rights reserved.

Neurocysticercosis, a Persisting Health Problem in Mexico

PubMed Central

Fleury, Agnès; Moreno García, Jael; Valdez Aguerrebere, Paulina; de Sayve Durán, María; Becerril Rodríguez, Paola; Larralde, Carlos; Sciutto, Edda

2010-01-01

Background The ongoing epidemiological transition in Mexico minimizes the relative impact of neurocysticercosis (NC) on public health. However, hard data on the disease frequency are not available. Methodology All clinical records from patients admitted in the Instituto Nacional de Neurologia y Neurocirugia (INNN) at Mexico City in 1994 and 2004 were revised. The frequencies of hospitalized NC patients in neurology, neurosurgery and psychiatry services, as well as NC mortality from 1995 through 2009, were retrieved. Statistical analyses were made to evaluate possible significant differences in frequencies of NC patients' admission between 1994 and 2004, and in yearly frequencies of NC patients' hospitalization and death between 1995 and 2009. Principal Findings NC frequency in INNN is not significantly different in 1994 and 2004. Between these two years, clinical severity of the cases diminished and the proportion of patients living in Mexico City increased. Yearly frequencies of hospitalization in neurology and psychiatry services were stable, while frequencies of hospitalization in neurosurgery service and mortality significantly decreased between 1995 and 2009. Conclusions Our findings show a stable tendency of hospital cases during the last decade that should encourage to redouble efforts to control this ancient disease. PMID:20808759

Prevalence and predictors of fatigue in glioblastoma: a prospective study

PubMed Central

Valko, Philipp O.; Siddique, Asim; Linsenmeier, Claudia; Zaugg, Kathrin; Held, Ulrike; Hofer, Silvia

2015-01-01

Background The main goal of this study was to assess frequency, clinical correlates, and independent predictors of fatigue in a homogeneous cohort of well-defined glioblastoma patients at baseline prior to combined radio-chemotherapy. Methods We prospectively included 65 glioblastoma patients at postsurgical baseline and assessed fatigue, sleepiness, mean bedtimes, mood disturbances, and clinical characteristics such as clinical performance status, presenting symptomatology, details on neurosurgical procedure, and tumor location and diameter as well as pharmacological treatment including antiepileptic drugs, antidepressants, and use of corticosteroids. Data on fatigue and sleepiness were measured with the Fatigue Severity Scale and the Epworth Sleepiness Scale, respectively, and compared with 130 age- and sex-matched healthy controls. Results We observed a significant correlation between fatigue and sleepiness scores in both patients (r = 0.26; P = .04) and controls (r = 0.36; P < .001). Only fatigue appeared to be more common in glioblastoma patients than in healthy controls (48% vs 11%; P < .001) but not the frequency of sleepiness (22% vs 19%; P = .43). Female sex was associated with increased fatigue frequency among glioblastoma patients but not among control participants. Multiple linear regression analyses identified depression, left-sided tumor location, and female sex as strongest associates of baseline fatigue severity. Conclusions Our findings indicate that glioblastoma patients are frequently affected by fatigue at baseline, suggesting that factors other than those related to radio- or chemotherapy have significant impact, particularly depression and tumor localization. PMID:25006033

Brain Connectivity Alterations Are Associated with the Development of Dementia in Parkinson's Disease.

PubMed

Bertrand, Josie-Anne; McIntosh, Anthony R; Postuma, Ronald B; Kovacevic, Natasha; Latreille, Véronique; Panisset, Michel; Chouinard, Sylvain; Gagnon, Jean-François

2016-04-01

Dementia affects a high proportion of Parkinson's disease (PD) patients and poses a burden on caregivers and healthcare services. Electroencephalography (EEG) is a common nonevasive and nonexpensive technique that can easily be used in clinical settings to identify brain functional abnormalities. Only few studies had identified EEG abnormalities that can predict PD patients at higher risk for dementia. Brain connectivity EEG measures, such as multiscale entropy (MSE) and phase-locking value (PLV) analyses, may be more informative and sensitive to brain alterations leading to dementia than previously used methods. This study followed 62 dementia-free PD patients for a mean of 3.4 years to identify cerebral alterations that are associated with dementia. Baseline resting state EEG of patients who developed dementia (N = 18) was compared to those of patients who remained dementia-free (N = 44) and of 37 healthy subjects. MSE and PLV analyses were performed. Partial least squares statistical analysis revealed group differences associated with the development of dementia. Patients who developed dementia showed higher signal complexity and lower PLVs in low frequencies (mainly in delta frequency) than patients who remained dementia-free and controls. Conversely, both patient groups showed lower signal variability and higher PLVs in high frequencies (mainly in gamma frequency) compared to controls, with the strongest effect in patients who developed dementia. These findings suggest that specific disruptions of brain communication can be measured before PD patients develop dementia, providing a new potential marker to identify patients at highest risk of developing dementia and who are the best candidates for neuroprotective trials.

Ocular vestibular evoked myogenic potentials to vertex low frequency vibration as a diagnostic test for superior canal dehiscence.

PubMed

Verrecchia, Luca; Westin, Magnus; Duan, Maoli; Brantberg, Krister

2016-04-01

To explore ocular vestibular evoked myogenic potentials (oVEMP) to low-frequency vertex vibration (125 Hz) as a diagnostic test for superior canal dehiscence (SCD) syndrome. The oVEMP using 125 Hz single cycle bone-conducted vertex vibration were tested in 15 patients with unilateral superior canal dehiscence (SCD) syndrome, 15 healthy controls and in 20 patients with unilateral vestibular loss due to vestibular neuritis. Amplitude, amplitude asymmetry ratio, latency and interaural latency difference were parameters of interest. The oVEMP amplitude was significantly larger in SCD patients when affected sides (53 μVolts) were compared to non-affected (17.2 μVolts) or compared to healthy controls (13.6 μVolts). Amplitude larger than 33.8 μVolts separates effectively the SCD ears from the healthy ones with sensitivity of 87% and specificity of 93%. The other three parameters showed an overlap between affected SCD ears and non-affected as well as between SCD ears and those in the two control groups. oVEMP amplitude distinguishes SCD ears from healthy ones using low-frequency vibration stimuli at vertex. Amplitude analysis of oVEMP evoked by low-frequency vertex bone vibration stimulation is an additional indicator of SCD syndrome and might serve for diagnosing SCD patients with coexistent conductive middle ear problems. Copyright © 2016 International Federation of Clinical Neurophysiology. Published by Elsevier Ireland Ltd. All rights reserved.

Determination of Vascular Dementia Brain in Distinct Frequency Bands with Whole Brain Functional Connectivity Patterns

PubMed Central

Zhang, Delong; Liu, Bo; Chen, Jun; Peng, Xiaoling; Liu, Xian; Fan, Yuanyuan; Liu, Ming; Huang, Ruiwang

2013-01-01

Recent studies have shown that multivariate pattern analysis (MVPA) can be useful for distinguishing brain disorders into categories. Such analyses can substantially enrich and facilitate clinical diagnoses. Using MPVA methods, whole brain functional networks, especially those derived using different frequency windows, can be applied to detect brain states. We constructed whole brain functional networks for groups of vascular dementia (VaD) patients and controls using resting state BOLD-fMRI (rsfMRI) data from three frequency bands - slow-5 (0.01∼0.027 Hz), slow-4 (0.027∼0.073 Hz), and whole-band (0.01∼0.073 Hz). Then we used the support vector machine (SVM), a type of MVPA classifier, to determine the patterns of functional connectivity. Our results showed that the brain functional networks derived from rsfMRI data (19 VaD patients and 20 controls) in these three frequency bands appear to reflect neurobiological changes in VaD patients. Such differences could be used to differentiate the brain states of VaD patients from those of healthy individuals. We also found that the functional connectivity patterns of the human brain in the three frequency bands differed, as did their ability to differentiate brain states. Specifically, the ability of the functional connectivity pattern to differentiate VaD brains from healthy ones was more efficient in the slow-5 (0.01∼0.027 Hz) band than in the other two frequency bands. Our findings suggest that the MVPA approach could be used to detect abnormalities in the functional connectivity of VaD patients in distinct frequency bands. Identifying such abnormalities may contribute to our understanding of the pathogenesis of VaD. PMID:23359801

Care of adults with developmental disabilities: Effects of a continuing education course for primary care providers.

PubMed

Balogh, Robert; Wood, Jessica; Lunsky, Yona; Isaacs, Barry; Ouellette-Kuntz, Hélène; Sullivan, William

2015-07-01

To evaluate the effects of an interdisciplinary, guideline-based continuing education course on measures related to the care of adults with developmental disabilities (DD). Before-and-after study with a control group. Ontario. Forty-seven primary care providers (physicians, registered nurses, and nurse practitioners). Participants either only received reference material about primary care of people with DD (control group) or participated in a continuing education course on primary care of people with DD in addition to receiving the reference material (intervention group). Participants reported on 5 key measures related to care of adults with DD: frequency of using guidelines, frequency of performing periodic health examinations, frequency of assessing patients who present with behaviour changes, level of comfort while caring for adults with DD, and knowledge of primary care related to adults with DD. Over time, the intervention group showed significant increases in 4 of the 5 key measures of care compared with the control group: the frequency of guideline use (P < .001), frequency of assessment of patients' behaviour change (P = .03), comfort level in caring for people with DD (P = .01), and knowledge of primary care related to adults with DD (P = .01). A continuing education course on primary care of adults with DD is a useful interdisciplinary model to train health professionals who provide primary care services to these patients.

Changes in sleep theta rhythm are related to episodic memory impairment in early Alzheimer's disease.

PubMed

Hot, Pascal; Rauchs, Géraldine; Bertran, Françoise; Denise, Pierre; Desgranges, Béatrice; Clochon, Patrice; Eustache, Francis

2011-07-01

Impairments have been reported both in sleep structure and episodic memory in Alzheimer's disease [AD]. Our objective was to investigate the relationships between episodic memory deficits and electro-encephalography [EEG] abnormalities occurring during sleep in patients with early AD. Postlearning sleep was recorded in 14 patients with mild to moderate AD, and 14 healthy elderly controls after they performed an episodic memory task derived from the Grober and Buschke's procedure. For each sleep stage, the relative power and mean frequency in each band were analyzed. Relative to agematched controls, AD patients presented faster mean theta frequency in both REM sleep and slow wave sleep [SWS]. In AD patients, a correlative analysis revealed that faster theta frequency during SWS was associated with better delayed episodic recall. We assume that increased theta activity reflects changes in neuronal activity to maintain memory performance, indicating that compensatory mechanisms already described at the waking state could also be engaged during SWS. Copyright © 2011 Elsevier B.V. All rights reserved.

Fast vigilance decrement in closed head injury patients as reflected by the mismatch negativity (MMN).

PubMed

Kaipio, M L; Novitski, N; Tervaniemi, M; Alho, K; Ohman, J; Salonen, O; Näätänen, R

2001-05-25

Event-related potentials (ERPs) were measured from 24 chronic closed head injury (CHI) patients and 18 age- and education-matched controls. The oddball paradigm was applied while subjects were watching a silent movie. The standard (p=0.8) sound of 75 ms duration had a basic frequency of 500 Hz with harmonic partials of 1000 Hz and 1500 Hz, whereas these frequencies for the pitch deviant were each 10% higher. The frequencies of the duration deviant matched with those of the standard but was 25 ms in duration. The MMN (mismatch negativity), generated by the brain's automatic auditory change-detector mechanism, was elicited by both deviants. No significant differences in the MMN latency or amplitude for either pitch or duration deviants were found between the groups. However, the MMN amplitude for the pitch deviant decreased in the patient group during the experiment considerably faster than in controls, suggesting a faster vigilance decrement in the patients.

Functional, interactive and critical health literacy: Varying relationships with control over care and number of GP visits.

PubMed

van der Heide, Iris; Heijmans, Monique; Schuit, A Jantine; Uiters, Ellen; Rademakers, Jany

2015-08-01

The aim of this study is to examine the extent to which functional, interactive and critical health literacy are associated with patients' perceived control over care and frequency of GP visits. Data from the Dutch 'National Panel of People with Chronic Illness or Disability' was used (N=2508). Health literacy was assessed by the Functional, Communicative and Critical Health Literacy measure. Perceived control over care was indicated by perceived ability to organize care, interact with providers and to perform self-care. By multivariate linear and logistic regression analyses, associations between health literacy and perceived control over care and subsequently frequency of GP visits were studied. Mainly interactive health literacy was associated with patients' perceived ability to organize care, interact with healthcare providers and perform self-care, whereas only functional health literacy was associated with number of GP visits. The results imply that some patients' may be less able to exert control over their care because of lower health literacy. Functional, interactive and critical health literacy vary in their relevance for patients' ability to exert control. Initiatives for strengthening patients' role in healthcare may be improved by paying attention to patients' health literacy, specifically functional and interactive health literacy. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.

Multidimensional analysis of the abnormal neural oscillations associated with lexical processing in schizophrenia.

PubMed

Xu, Tingting; Stephane, Massoud; Parhi, Keshab K

2013-04-01

The neural mechanisms of language abnormalities, the core symptoms in schizophrenia, remain unclear. In this study, a new experimental paradigm, combining magnetoencephalography (MEG) techniques and machine intelligence methodologies, was designed to gain knowledge about the frequency, brain location, and time of occurrence of the neural oscillations that are associated with lexical processing in schizophrenia. The 248-channel MEG recordings were obtained from 12 patients with schizophrenia and 10 healthy controls, during a lexical processing task, where the patients discriminated correct from incorrect lexical stimuli that were visually presented. Event-related desynchronization/synchronization (ERD/ERS) was computed along the frequency, time, and space dimensions combined, that resulted in a large spectral-spatial-temporal ERD/ERS feature set. Machine intelligence techniques were then applied to select a small subset of oscillation patterns that are abnormal in patients with schizophrenia, according to their discriminating power in patient and control classification. Patients with schizophrenia showed abnormal ERD/ERS patterns during both lexical encoding and post-encoding periods. The top-ranked features were located at the occipital and left frontal-temporal areas, and covered a wide frequency range, including δ (1-4 Hz), α (8-12 Hz), β (12-32 Hz), and γ (32-48 Hz) bands. These top features could discriminate the patient group from the control group with 90.91% high accuracy, which demonstrates significant brain oscillation abnormalities in patients with schizophrenia at the specific frequency, time, and brain location indicated by these top features. As neural oscillation abnormality may be due to the mechanisms of the disease, the spectral, spatial, and temporal content of the discriminating features can offer useful information for helping understand the physiological basis of the language disorder in schizophrenia, as well as the pathology of the disease itself.

Mismatch repair gene MSH3 polymorphism is associated with the risk of sporadic prostate cancer.

PubMed

Hirata, Hiroshi; Hinoda, Yuji; Kawamoto, Ken; Kikuno, Nobuyuki; Suehiro, Yutaka; Okayama, Naoko; Tanaka, Yuichiro; Dahiya, Rajvir

2008-05-01

The mismatch repair system is a DNA repair mechanism that corrects mispaired bases during DNA replication errors. Cancer cells deficient in MMR proteins have a 10(2) to 10(3)-fold increase in the mutation rate. Single nucleotide polymorphisms of mismatch repair genes have been shown to cause a decrease in DNA repair activity. We hypothesized that mismatch repair gene polymorphism could be a risk factor for prostate cancer and p53 Pro/Pro genotype carriers could influence MSH3 and MSH6 polymorphisms. DNA samples from 110 patients with prostate cancer and 110 healthy controls were analyzed by single strand conformational polymorphism and polymerase chain reaction-restriction fragment length polymorphism to determine the genotypic frequency of 5 polymorphic loci on 2 MMR genes (MSH3 and MSH6) and p53 codon72. The chi-square test was applied to compare genotype frequency between patients and controls. A significant increase in the G/A+A/A genotype of MSH3 Pro222Pro was observed in patients compared to controls (OR 1.87, 95% CI 1.0-3.5). The frequency of A/G + G/G genotypes of MSH3 exon23 Thr1036Ala also tended to increase in patients (OR 1.57, 95% CI 0.92-2.72). In p53 codon72 Arg/Pro + Pro/Pro carriers the frequency of the AG + GG genotype of MSH3 exon23 was significantly increased in patients compared to controls (OR 2.1, 95% CI 1.05-4.34). To our knowledge this is the first report of the association of MSH3 gene polymorphisms in prostate cancer. These results suggest that the MSH3 polymorphism may be a risk factor for prostate cancer.

[Profiles of high-frequency users of primary care services and associations with depressive anxiety disorders in Cali, Colombia].

PubMed

Rodriguez-Lopez, Mérida; Arrivillaga, Marcela; Holguín, Jorge; León, Hoover; Ávila, Alfonso; Hernández, Carlos; Rincón-Hoyos, Hernán G

2016-01-01

To determine the profiles of highly frequent users of primary care services and the associations of these profiles with depressive anxiety disorders in Cali, Colombia. A case-control study, high-frequency cases were defined as those involving patients with a percentile >75 with regard to the frequency of spontaneous use of outpatient facilities in the last 12 months; controls were defined as those with a percentile <25. A multiple correspondence analysis was used to describe patient profiles, and the influences of depression and anxiety on frequent attendance was determined via logistic regression. Among the 780 participating patients, differences in the profiles among frequent users and controls were related to predisposing factors such as sex, age, and education, capacity factors such as the time required to visit the institution and the means of transport used, and need factors such as health perceptions, social support, family function, and the presence of anxiety or depressive disorders. A depression or anxiety disorder was found to associate positively with frequent attendance (adjusted odds ratio [aOR]: 1.99, 95% confidence interval [CI]: 1.19-3.31) and a referral system (aOR: 1.61, 95% CI: 1.01-2.76), but negatively with mild or no family dysfunction (aOR: 0.79; 95% CI: 0.48-0.88) after adjusting for age, sex, ethnicity, and health service-providing institutions. The profiles of high-frequency patients differ from control patients with respect to factors related to capacity, need, and willingness; in particular, the latter were independently associated with frequent attendance. Notably, the presence of an anxious or depressive disorder doubled the risk of highfrequency attendance at a primary care facility.

Efficacy and safety of manual acupuncture manipulations with different frequencies on epigastric pain syndrome (EPS) in functional dyspepsia (FD) patients: study protocol for a randomized controlled trial.

PubMed

Hong, Shou-Hai; Ding, Sha-Sha; Wu, Fei; Bi, Ying; Xu, Fu; Wan, Yi-Jia; Xuan, Li-Hua

2017-03-06

Manual acupuncture (MA) manipulations are one of the key factors influencing acupuncture effects in traditional Chinese medicine theory. Different MA manipulations contain different stimulating parameters, thus generating different acupuncture responses or effects. Evidence has demonstrated that acupuncture is effective for functional dyspepsia (FD). However, the effects of different stimulating parameters of MA manipulations on FD remain unclear. This study is a randomized controlled trial with a four-arm, parallel-group structure. Patients with FD with epigastric pain syndrome (EPS) will be included and randomly allocated into four groups: three MA manipulation groups (separately treated with a frequency of 1 Hz, 2 Hz, or 3 Hz) and a control group. All groups will receive omeprazole as a basic treatment and acupuncture: in the MA manipulation groups, the needles will be manipulated manually with three different frequencies on the basis when de qi is reached, while in the control group, the needles will be inserted without any manipulation. All patients will receive acupuncture treatment of five consecutive sessions per week for 2 weeks and be followed up at 4, 8, and 12 weeks. The primary outcomes of the study include patients' response to the treatment. The secondary outcomes include dyspeptic symptoms, quality of life, mental status, fasting serum gastrin, motilin, and ghrelin concentrations, and adverse events. The protocol was approved by the Ethics committee of the First Affiliated Hospital of Zhejiang Chinese Medical University (2016-K-057-01). The aim of this study is to evaluate the efficacy and safety of MA manipulations with different stimulating parameters (different frequencies) on EPS in patients with FD. Chinese Clinical Trial Registry, ChiCTR-IOR-16008189 . Registered on 30 March 2016.

Repetitive transcranial magnetic stimulation as an alternative therapy for dysphagia after stroke: a systematic review and meta-analysis.

PubMed

Liao, Xiang; Xing, Guoqiang; Guo, Zhiwei; Jin, Yu; Tang, Qing; He, Bin; McClure, Morgan A; Liu, Hua; Chen, Huaping; Mu, Qiwen

2017-03-01

A meta-analysis and systematic review was conducted to investigate the potential effects of repetitive transcranial magnetic stimulation on dysphagia in patients with stroke, including different parameters of frequency and stimulation site. PubMed, Embase, MEDLINE databases and the Cochrane Library, were searched for randomized controlled studies of repetitive transcranial magnetic stimulation treatment of dysphagia published before March 2016. Six clinical randomized controlled studies of a total of 163 stroke patients were included in this meta-analysis. A significant effect size of 1.24 was found for dysphagic outcome (mean effect size, 1.24; 95% confidence interval (CI), 0.67-1.81). A subgroup analysis based on frequency showed that the clinical scores were significantly improved in dysphagic patients with low frequency repetitive transcranial magnetic stimulation treatment ( P < 0.05) as well as high frequency repetitive transcranial magnetic stimulation treatment ( P < 0.05). A stimulation site stratified subgroup analysis implied significant changes in stroke patients with dysphagia for the unaffected hemisphere ( P < 0.05) and the bilateral hemisphere stimulation ( P < 0.05), but not for the affected hemisphere ( P > 0.05). The analysis of the follow-up data shows that patients in the repetitive transcranial magnetic stimulation groups still maintained the therapeutic benefit of repetitive transcranial magnetic stimulation four weeks after the last session of repetitive transcranial magnetic stimulation therapy ( P < 0.05). This meta-analysis indicates that repetitive transcranial magnetic stimulation has a positive effect on dysphagia after stroke. Compared with low-frequency repetitive transcranial magnetic stimulation, high-frequency repetitive transcranial magnetic stimulation may be more beneficial to the patients. This meta-analysis also supports that repetitive transcranial magnetic stimulation on an unaffected - or bilateral - hemisphere has a significant therapeutic effect on dysphagia.

Interleukin 1 β (IL-1B) and IL-1 antagonist receptor (IL-1RN) gene polymorphisms are associated with the genetic susceptibility and steroid dependence in patients with ulcerative colitis.

PubMed

Yamamoto-Furusho, Jesús K; Santiago-Hernández, Jean J; Pérez-Hernández, Nonanzit; Ramírez-Fuentes, Silvestre; Fragoso, José Manuel; Vargas-Alarcón, Gilberto

2011-07-01

Ulcerative colitis (UC) is an inflammatory bowel disease of unknown etiology. Among cytokines induced in UC, interleukin 1 antagonist (IL-1ra) and interleukin 1 β (IL-1β) seems to have a central role because of its immunoregulatory and proinflammatory activities. To determine the association between IL-1RA and IL-1B gene polymorphisms and the clinical features of UC in the Mexican Mestizo population. Five polymorphisms in the IL-1 gene cluster members IL-1B (rs16944), IL1F10 (rs3811058), and IL-1RN (rs419598, rs315952, and rs315951) were genotyped by 5' exonuclease TaqMan genotyping assays in a group of 200 Mexican patients with UC and 248 ethnically matched unrelated healthy controls. We found a significant increased frequencies of IL-1RN6/1 TC (rs315952) and RN6/2 CC (rs315951) and decreased frequency of IL-1B-511 TC (rs16944) genotypes in UC patients as compared with healthy controls. In the subgroup analysis, we found a significant association between the RN6/2 GG (rs315951) and IL-1B-511 CC (rs16944) genotypes and the presence of steroid-dependence in UC patients (pC=00001, OR=15.6 and pC=0.008, OR=4.09, respectively). Patients with UC showed increased frequencies of IL-1RN "CTC" and "TCG" haplotypes when compared with healthy controls (P=0.019, OR=1.43 and P<10(-7), OR=2.63, respectively). Two haplotypes (TTG and CTG) showed decreased frequency in patients when compared with healthy controls (P=9×10(-7), OR=0.11 and P=8×10(-6), OR=0.11, respectively). IL-1 RN and IL-1B polymorphisms were associated with the genetic susceptibility to develop UC and might be associated with the presence of steroid-dependence in UC patients.

[Study on correlation between HLA-A, B, DR alleles and Duchenne muscular dystrophy].

PubMed

Chen, Wei; Xiao, Lulu; Zhang, Cheng; Wu, Hong-ling

2007-10-01

To analyze the polymorphism of HLA-A, B and DR alleles of Duchenne muscular dystrophy (DMD) patients in Han nationality of South China and to discuss the role of immune and genetic factors in the pathogenesis of DMD and muscular fiber necrosis. Polymerase chain reaction-reverse sequence specific oligonucleotide (PCR-RSSO) and National Marrow Donor Program (NMDP) were used to analyze the polymorphism of HLA-A,B and DR alleles of 113 DMD patients and 406 normal controls in Han nationality of South China. The frequencies of HLA-A24, A30 alleles in DMD group were 11.25% and 5.46% respectively, indicating notable difference (P=0.001, < 0.01) from 22.16% and 0.87% of control group; the frequencies of HLA-B13, B15, B61 and B62 alleles in DMD group were 12.26%, 16.92%, 0.44% and 0.44%, indicating a notable difference (P=0.016, < 0.01, 0.001) from 6.76%, 1.49%, 4.79% and 5.05% of control group; the frequencies of HLA-DR04, DR07, DR12 alleles in DMD group were 17.45%, 6.40% and 19.62%, indicating a notable difference (P=0.018, < 0.01, 0.012) from 10.67%, 2.24% and 11.92% of control group. There are significant differences in the HLA gene frequencies between DMD patients and normal controls. These results suggest that HLA genotype relates to the muscular necrosis and the pathogenesis of DMD.

Lack of association between the pseudo deficiency mutation in the arylsulfatase A gene on chromosome 22 with schizophrenia

DOE Office of Scientific and Technical Information (OSTI.GOV)

Chang, P.L.; Chetty, V.; Kasch, L.

Arylsulfatase-A deficiency causes the neurodegenerative lysosomal storage disease metachromatic leukodystrophy. In the late-onset variant, schizophrenia-like psychosis is a frequent finding and sometimes given as the initial diagnosis. A mutant allele, pseudo-deficiency, causes deficient enzyme activity but no apparent clinical effect. It occurs at a high frequency and consists of two tightly-linked A{r_arrow}G transitions: one causing the loss of a glycosylation site (PDg); and one causing the loss of a polyadenylation signal (PDa). Since this gene was mapped to chromosome 22q13-qter, a region implicated in a potential linkage with schizophrenia, we hypothesized that this common mutation may be a predisposing geneticmore » factor for schizophrenia. We studied a random sample of schizophrenic patients for possible increase in frequency of the pseudo-deficiency mutations and in multiplex families to verify if the mutations are linked to schizophrenia. Among 50 Caucasian patients identified through out-patient and in-patient clinics, the frequencies for the three alleles PDg + PDa together, PDg or PDa alone were 11%, 5% and 0%, respectively. The corresponding frequencies among 100 Caucasian controls were 7.5%, 6% and 0%, respectively, the differences between the patients and controls being insignificant ({chi}{sup 2}tests: 0.10« less

Serotonin transporter gene polymorphism in eating disorders: Data from a new biobank and META-analysis of previous studies.

PubMed

Solmi, M; Gallicchio, D; Collantoni, E; Correll, C U; Clementi, M; Pinato, C; Forzan, M; Cassina, M; Fontana, F; Giannunzio, V; Piva, I; Siani, R; Salvo, P; Santonastaso, P; Tenconi, E; Veronese, N; Favaro, A

2016-06-01

Objectives Growing interest focuses on the association between 5-HTTLPR polymorphism and eating disorders (ED), but published findings have been conflicting. Methods The Italian BIO.VE.D.A. biobank provided 976 samples (735 ED patients and 241 controls) for genotyping. We conducted a literature search of studies published up to 1 April 2015, including studies reporting on 5HTTLPR genotype and allele frequencies in obesity and/or ED. We ran a meta-analysis, including data from BIO.VE.D.A. - comparing low and high-functioning genotype and allele frequencies in ED vs. Results Data from 21 studies, plus BIO.VE.D.A., were extracted providing information from 3,736 patients and 2,707 controls. Neither low- nor high-functioning genotype frequencies in ED patients, with both bi- and tri-allelic models, differed from controls. Furthermore, neither low- nor high-functioning allele frequencies in ED or in BN, in both bi- and triallelic models, differed from control groups. After sensitivity analysis, results were the same in AN vs. Results remained unaltered when investigating recessive and dominant models. Conclusions 5HTTLPR does not seem to be associated with ED in general, or with AN or BN in particular. Future studies in ED should explore the role of ethnicity and psychiatric comorbidity as a possible source of bias.

[A novel posturographic method to differentiate sway patterns of patients with Parkinson's disease from patients with cerebellar ataxia].

PubMed

Schwesig, René; Becker, Stephan; Lauenroth, Andreas; Kluttig, Alexander; Leuchte, Siegfried; Esperer, Hans Dieter

2009-12-01

Nigrostriatal and cerebellar systems are important postural subsystems in neurologic rehabilitation. In this study, we investigated the ability to differentiate both systems via posturography and spectral analysis. This cross-sectional study included 156 study subjects with 52 individuals in each group (healthy controls, Parkinson's disease and cerebellar disease patients). The mean age of all groups was 61.3+/-13.4 years. We used the interactive balance system (IBS) to differentiate vertical pressure fluctuations on four independent force plates, each supporting one heel or the toes of each leg in eight test positions. We also performed a frequency analysis of the force/time signal. The univariate, multifactor covariance analysis was used for statistical evaluation. Variance analysis of the Parkinson's group (mean/95% CI: 23.0/20.5-25.5) and control group (mean/95% CI: 16.7/14.2-19.2) revealed the greatest differences in frequency range F1. Subjects with cerebellar disease showed significant differences compared with controls in all frequency ranges. Furthermore, cerebellar disease subjects showed a consistently lower postural stability compared with the Parkinson's (p<0.001) and control groups (p<0.001). Results from the present study suggest that the cerebellar and nigrostriatal system can be effectively differentiated and assessed with frequency-analyzed posturographic parameters. Furthermore, the IBS allows a highly practical differential assessment in neurologic rehabilitation.

Circulating brain derived neurotrophic factor (BDNF) and frequency of BDNF positive T cells in peripheral blood in human ischemic stroke: Effect on outcome.

PubMed

Chan, Adeline; Yan, Jun; Csurhes, Peter; Greer, Judith; McCombe, Pamela

2015-09-15

The aim of this study was to measure the levels of circulating BDNF and the frequency of BDNF-producing T cells after acute ischaemic stroke. Serum BDNF levels were measured by ELISA. Flow cytometry was used to enumerate peripheral blood leukocytes that were labelled with antibodies against markers of T cells, T regulatory cells (Tregs), and intracellular BDNF. There was a slight increase in serum BDNF levels after stroke. There was no overall difference between stroke patients and controls in the frequency of CD4(+) and CD8(+) BDNF(+) cells, although a subgroup of stroke patients showed high frequencies of these cells. However, there was an increase in the percentage of BDNF(+) Treg cells in the CD4(+) population in stroke patients compared to controls. Patients with high percentages of CD4(+) BDNF(+) Treg cells had a better outcome at 6months than those with lower levels. These groups did not differ in age, gender or initial stroke severity. Enhancement of BDNF production after stroke could be a useful means of improving neuroprotection and recovery after stroke. Copyright © 2015 Elsevier B.V. All rights reserved.

Pilot trial of osteopathic manipulative therapy for patients with frequent episodic tension-type headache.

PubMed

Rolle, Guido; Tremolizzo, Lucio; Somalvico, Francesco; Ferrarese, Carlo; Bressan, Livio C

2014-09-01

Osteopathic manipulative therapy (OMTh; manipulative care provided by foreign-trained osteopaths) may be used for managing headache pain and related disability, but there is a need for high-quality randomized controlled trials to assess the effectiveness of this intervention. To explore the efficacy of OMTh for pain management in frequent episodic tension-type headache (TTH). Single-blind randomized placebo-controlled pilot study. Patients were recruited from 5 primary care settings. Forty-four patients who were affected by frequent episodic TTH and not taking any drugs for prophylactic management of episodic TTH were recruited. Patients were randomly allocated to an experimental or control group. The experimental group received corrective OMTh techniques, tailored for each patient; the control group received assessment of the cranial rhythmic impulse (sham therapy). The study included a 1-month baseline period, a 1-month treatment period, and a 3-month follow-up period. The primary outcome was the change in patient-reported headache frequency, and secondary outcomes included changes in headache pain intensity (discrete score, 1 [lowest perceived pain] to 5 [worst perceived pain]), over-the-counter medication use, and Headache Disability Inventory score. Forty patients completed the study (OMTh, n=21; control, n=19). The OMTh group had a significant reduction in headache frequency over time that persisted 1 month (approximate reduction, 40%; P<.001) and 3 months (approximate reduction, 50%; P<.001) after the end of treatment. Moreover, there was an absolute difference between the 2 treatment groups at the end of the study, with a 33% lower frequency of headache in the OMTh group (P<.001). This feasibility study demonstrated the efficacy of OMTh in the management of frequent episodic TTH, compared with sham therapy in a control group. Osteopathic manipulative therapy may be preferred over other treatment modalities and may benefit patients who have adverse effects to medications or who have difficulty complying with pharmacologic regimens. This protocol may serve as a model for future studies. © 2014 The American Osteopathic Association.

No association of the neuropeptide Y (Leu7Pro) and ghrelin gene (Arg51Gln, Leu72Met, Gln90Leu) single nucleotide polymorphisms with eating disorders.

PubMed

Kindler, Jochen; Bailer, Ursula; de Zwaan, Martina; Fuchs, Karoline; Leisch, Friedrich; Grün, Bettina; Strnad, Alexandra; Stojanovic, Mirjana; Windisch, Julia; Lennkh-Wolfsberg, Claudia; El-Giamal, Nadja; Sieghart, Werner; Kasper, Siegfried; Aschauer, Harald

2011-06-01

Genetic factors likely contribute to the biological vulnerability of eating disorders. Case-control association study on one neuropeptide Y gene (Leu7Pro) polymorphism and three ghrelin gene (Arg51Gln, Leu72Met and Gln90Leu) polymorphisms. 114 eating disorder patients (46 with anorexia nervosa, 30 with bulimia nervosa, 38 with binge eating disorder) and 164 healthy controls were genotyped. No differences were detected between patients and controls for any of the four polymorphisms in allele frequency and genotype distribution (P > 0.05). Allele frequencies and genotypes had no significant influence on body mass index (P > 0.05) in eating disorder patients. Positive findings of former case-control studies of associations between ghrelin gene polymorphisms and eating disorders could not be replicated. Neuropeptide Y gene polymorphisms have not been investigated in eating disorders before.

[Clinical observation on treatment of functional constipation with compound plantain-senna granules].

PubMed

Zhang, Chao-xian

2009-12-01

To investigate the efficacy and safety of compound plantain-senna granule (CPSG) in the treatment of functional constipation. Eighty patients with confirmed diagnosis of functional constipation were assigned to 2 groups. The 40 patients in the treatment group were treated with CPSG 5 g per day, while the 40 patients in the control group were treated with equal volume of starch granule, for 2 weeks totally. The defecating frequency and stool property, the scores of fecal discharge difficulty and accompanied symptoms, the gastrointestinal transmission time, and adverse reaction of treatment in the two groups were observed before and after treatment. Parameters of defecating frequency, stool property, the scores of fecal discharge difficulty, accompanied symptoms and the gastrointestinal transmission time were unchanged after treatment in the control group (P > 0.05); while in the treatment group, they improved significantly (P < 0.05) and showed significant difference to those in the control group respectively (P < 0. 05). No serious adverse reaction occurred in both groups. CPSG can obviously increase the defecating frequency, change the stool property, alleviate the fecal discharging difficult symptom and accompanied symptom, and shorten the gastrointestinal transmission time in patients with functional constipation with good security and tolerability.

Physiology and pathophysiology of heart rate and blood pressure variability in humans: is power spectral analysis largely an index of baroreflex gain?

PubMed

Sleight, P; La Rovere, M T; Mortara, A; Pinna, G; Maestri, R; Leuzzi, S; Bianchini, B; Tavazzi, L; Bernardi, L

1995-01-01

1. It is often assumed that the power in the low- (around 0.10 Hz) and high-frequency (around 0.25 Hz) bands obtained by power spectral analysis of cardiovascular variables reflects sympathetic and vagal tone [corrected] respectively. An alternative model attributes the low-frequency band to a resonance in the control system that is produced by the inefficiently slow time constant of the reflex response to beat-to-beat changes in blood pressure effected by the sympathetic (with or without the parasympathetic) arm(s) of the baroreflex (De Boer model). 2. We have applied the De Boer model of circulatory variability to patients with varying baroreflex sensitivity to patients with varying baroreflex sensitivity and one normal subject, and have shown that the main differences in spectral power (for both low and high frequency) between and within subjects are caused by changes in the arterial baroreflex gain, particularly for vagal control of heart rate (R-R interval) and left ventricular stroke output. We have computed the power spectrum at rest and during neck suction (to stimulate carotid baroreceptors). We stimulated the baroreceptors at two frequencies (0.1 and 0.2 Hz), which were both distinct from the controlled respiration rate (0.25 Hz), in both normal subjects and heart failure patients with either sensitive or poor baroreflex control. 3. The data broadly confirm the De Boer model. The low-frequency (0.1 Hz) peak in either R-R or blood pressure variability) was spontaneously generated only if the baroreflex control of the autonomic outflow was relatively intact.(ABSTRACT TRUNCATED AT 250 WORDS)

IL28B and IL10R −1087 polymorphisms are protective for chronic genotype 1 HCV infection and predictors of response to interferon-based therapy in an East-Central European cohort

PubMed Central

2014-01-01

Background Previous studies have shown that single nucleotide polymorphisms (SNP) in IL28B and IL10R are associated with sustained virological response (SVR) in chronic hepatitis C patients treated with pegilated interferon plus ribavirin (P/R). The present study extends our earlier investigations on a large East-Central European cohort. The allele frequencies of IL28B and IL10R in genotype 1 HCV infection were compared with that of healthy controls for the purpose of examining the relationship between the polymorphisms and the SVR to P/R treatment. Methods A total of 748 chronic HCV1 infected patients (365 male, 383 female; 18–82 years) and 105 voluntary blood donors as controls were enrolled. Four hundred and twenty HCV patients were treated with P/R for 24–72 weeks, out of them 195 (46.4%) achieved SVR. The IL28 rs12979860 SNP was determined using Custom Taqman SNP Genotyping Assays. The IL10R −1087 (also known as IL10R −1082 (rs1800896) promoter region SNP was determined by RT-PCR and restriction fragment length polymorphism analysis. Results The IL28B CC genotype occurred with lower frequency in HCV patients than in controls (26.1% vs 51.4%, p<0.001). P/R treated patients with the IL28B CC genotype achieved higher SVR rate, as compared to patients with CT (58.6% vs 40.8%, p=0.002). The prevalence of IL10R −1087 GG genotype was lower in patients than in controls (31.8 % vs 52.2%, p<0.001). Among patients achieving SVR, the IL10R −1087 GG genotype occurred with higher frequency than the AA (32.0% vs 17.4%, p=0.013). The IL28B T allele plus IL10R A allele combination was found with higher prevalence in patients than in controls (52% vs 20.7%, p<0.001). The IL28B CC plus IL10R A allele combination occurred with higher frequency among patients with SVR than in non-responders (21.3% vs 12.8%, p=0.026). Both the IL28B CC plus IL10R GG and the IL28B CC plus IL10R A allele combinations occurred with lower frequency in patients than in controls. Conclusions In our HCV1 patients, both the IL28B CC and IL10R GG genotypes are associated with clearance of HCV. Moreover, distinct IL28B and IL10R allele combinations appear to be protective against chronic HCV1 infection and predictors of response to P/R therapy. PMID:24398031

Tumor necrosis factor-alpha and interleukin-4 gene polymorphisms in Chinese patients with gout.

PubMed

Chen, M-L; Tsai, F-J; Tsai, C-H; Huang, C-M

2007-01-01

The purpose of this study was to examine whether polymorphisms of interleukin-4 (IL-4) (promoter-590 and intron 3) and tumor necrosis factor-alpha (TNF-alpha) promoter-308 genes are markers of susceptibility to or clinical manifestations of gout in Taiwanese patients. The study included 196 Taiwanese patients with gout and 103 unrelated healthy control subjects living in central Taiwan. Polymorphisms of the IL-4 (promoter-590 and intron 3) and TNF-alpha (promoter-308) genes were typed from genomic DNA. Allelic frequencies and carriage rates were then compared between gout patients and control subjects. The correlation between allelic frequencies, carriage rates and clinical manifestations of gout were evaluated. No significant differences were observed in the allelic frequencies and carriage rates of the IL-4 (promoter-590 and intron 3) and TNF-alpha gene polymorphisms between patients with gout and healthy control subjects. Furthermore, the IL-4 (promoter-590 and intron 3) and TNF-alpha genotypes were not found to be associated with the clinical and laboratory profiles in gout patients. However, there was a significant difference in the TNF-alphapolymorphism genotype between patients with and without hypertriglyceridemia (P=0.001, xi2=11.47, OR=10.3, 95%CI=3.57-29.7). The results of our study suggest that polymorphisms of the IL-4 (promoter-590 and intron 3) and TNF-alpha promoter-308 genes are not related to gout in Chinese patients in Taiwan.

Peptide-containing nerve fibres in the gut wall in Crohn's disease.

PubMed Central

Sjölund, K; Schaffalitzky, O B; Muckadell, D E; Fahrenkrug, J; Håkanson, R; Peterson, B G; Sundler, F

1983-01-01

Neurones containing VIP, substance P, or enkephalin were studied by immunocytochemistry in intestinal specimens from 27 patients with Crohn's disease. Also several endocrine cell systems in the gut were examined. The results were compared with those from a control group of 26 patients. The relative frequency of various endocrine cells did not differ overtly from that in controls. Vasoactive intestinal polypeptide and substance P nerve fibres were distributed in all layers of the gut wall, including the submucosal and myenteric plexuses, whereas enkephalin fibres were restricted to the smooth muscle layer and the myenteric plexus. The distribution and frequency of the peptide-containing nerve fibres were the same in Crohn's disease patients as in control patients. A proportion of these nerve fibres, however, were notably coarse in the Crohn's disease patients. This was particularly apparent in the afflicted parts of the intestine although it was noted also in non-afflicted parts. The concentration of VIP and substance P (expressed as pmol/g wet weight) did not, however, exceed that of the control group. Images Fig. 1 Fig. 2 Fig. 3 Fig. 4 PMID:6192043

Increased Sympathetic and Decreased Parasympathetic Cardiac Tone in Patients with Sleep Related Alveolar Hypoventilation

PubMed Central

Palma, Jose-Alberto; Urrestarazu, Elena; Lopez-Azcarate, Jon; Alegre, Manuel; Fernandez, Secundino; Artieda, Julio; Iriarte, Jorge

2013-01-01

Objective: To assess autonomic function by heart rate variability (HRV) during sleep in patients with sleep related alveolar hypoventilation (SRAH) and to compare it with that of patients with obstructive sleep apnea (OSA) and control patients. Design: Cross-sectional study. Setting: Sleep Unit, University Hospital of University of Navarra. Patients: Fifteen idiopathic and obesity related-SRAH patients were studied. For each patient with SRAH, a patient with OSA, matched in age, sex, body mass index (BMI), minimal oxygen saturation (SatO2), and mean SatO2 was selected. Control patients were also matched in age, sex, and BMI with patients with OSA and those with SRAH, and in apnea/hypopnea index (AHI) with patients with SRAH. Interventions: N/A. Measurements and Results: Time- and frequency-domain HRV measures (R-R, standard deviation of normal-to-normal RR interval [SDNN], very low frequency [VLF], low frequency [LF], high frequency [HF], LF/HF ratio) were calculated across all sleep stages as well as during wakefulness just before and after sleep during a 1-night polysomnography. In patients with SRAH and OSA, LF was increased during rapid eye movement (REM) when compared with control patients, whereas HF was decreased during REM and N1-N2 sleep stages. The LF/HF ratio was equally increased in patients with SRAH and OSA during REM and N1-N2. Correlation analysis showed that LF and HF values during REM sleep were correlated with minimal SatO2 and mean SatO2. Conclusions: Patients with SRAH exhibited an abnormal cardiac tone during sleep. This fact appears to be related to the severity of nocturnal oxygen desaturation. Moreover, there were no differences between OSA and SRAH, supporting the hypothesis that autonomic changes in OSA are primarily related to a reduced nocturnal oxygen saturation, rather than a consequence of other factors such as nocturnal respiratory events. Citation: Palma JA; Urrestarazu E; Lopez-Azcarate J; Alegre M; Fernandez S; Artieda J; Iriarte J. Increased sympathetic and decreased parasym-pathetic cardiac tone in patients with sleep related alveolar hypoventilation. SLEEP 2013;36(6):933-940. PMID:23729937

Plasminogen activator inhibitor type 1 serum levels and 4G/5G gene polymorphism in morbidly obese Hispanic patients with non-alcoholic fatty liver disease.

PubMed

Espino, Alberto; Villagrán, Andrea; Vollrath, Valeska; Hanckes, Paulina; Salas, Roberto; Farah, Andrea; Solís, Nancy; Pizarro, Margarita; Escalona, Alex; Boza, Camilo; Pérez, Gustavo; Carrasco, Gonzalo; Padilla, Oslando; Miquel, Juan Francisco; Nervi, Flavio; Chavez-Tapia, Norberto C; Arab, Juan Pablo; Alvarez-Lobos, Manuel; Arrese, Marco; Riquelme, Arnoldo

2011-01-01

The plasminogen activator inhibitor type-1 (PAI-1) has been implicated in the regulation of fibrinolysis and extracellular matrix components. The single base pair guanine insertion/deletion polymorphism (4G/5G) within the promoter region of the PAI-1 gene influences PAI-1 synthesis and may modulate hepatic fibrogenesis. To evaluate the influence of PAI-1 serum levels and 4G/5G polymorphism on the risk of liver fibrosis associated to non-alcoholic fatty liver disease (NAFLD) in morbidly obese patients. Case-control study of 50 obese patients undergoing bariatric surgery and 71 non-obese subjects matched by age and sex. Anthropometric and biochemical measurements were performed, including PAI-1 serum levels. Genomic DNA was obtained to assess the presence of 4G/5G polymorphism. BMI, insulinemia, triglycerides, HOMA-IR, hypertension and diabetes were significantly higher in obese patients compared to control subjects. PAI-1 serum levels observed in obese patients were significantly lower (10.63 ± 4.82) compared to controls (14.26 ± 11.4; p < 0.05). No differences were observed in the PAI-1 4G/5G promoter genotypes frequencies (p = 0.12). No differences were observed in PAI-1 plasma levels among obese patients with liver fibrosis (10.64 ± 4.35) compared to patients without liver fibrosis (10.61 ± 5.2; p = 0.985). PAI-1 4G/5G promoter genotypes frequencies were similar in patients with or without liver fibrosis associated to NASH (p = 0.6). Morbidly obese patients had significantly lower PAI-1 serum levels with similar PAI-1 4G/5G genotypes frequencies compared to non-obese subjects. The frequency of 4G/5G genotypes in Chilean Hispanic healthy subjects was similar to that described in other populations. No association was found between PAI-1 serum levels or 4G/5G genotype with liver fibrosis in obese patients.

Understanding the Patient Experience with Carcinoid Syndrome: Exit Interviews from a Randomized, Placebo-controlled Study of Telotristat Ethyl.

PubMed

Anthony, Lowell; Ervin, Claire; Lapuerta, Pablo; Kulke, Matthew H; Kunz, Pamela; Bergsland, Emily; Hörsch, Dieter; Metz, David C; Pasieka, Janice; Pavlakis, Nick; Pavel, Marianne; Caplin, Martyn; Öberg, Kjell; Ramage, John; Evans, Emily; Yang, Qi Melissa; Jackson, Shanna; Arnold, Karie; Law, Linda; DiBenedetti, Dana B

2017-11-01

Telotristat ethyl, an oral tryptophan hydroxylase inhibitor, is intended to treat carcinoid syndrome by reducing serotonin production. Telotristat ethyl was evaluated in TELESTAR, a Phase III study for patients who had carcinoid syndrome with at least 4 bowel movements (BMs) per day and who were receiving somatostatin analogue therapy. This interview substudy was conducted to provide insight into the patient experience in TELESTAR and to help understand whether reductions in BM frequency (the primary end point) and other symptoms were clinically meaningful. Participating sites were asked to invite (before randomization) all eligible patients to telephone interviews scheduled at the end of the double-blind treatment period. Patients and interviewers were blinded to treatment. All 35 interviewed participants reported diarrhea and/or excessive BMs at baseline. Patients reported that these symptoms negatively affected emotional, social, physical, and occupational well-being. Prespecified criteria for treatment response (achieving ≥30% reduction in BM frequency for at least 50% of the days) were met by 8 of 26 patients taking telotristat ethyl and 1 of 9 patients taking placebo. All 8 patients taking telotristat ethyl described clinically meaningful reductions in BM frequency and were very satisfied with the ability of the study drug to control their carcinoid syndrome symptoms. Overall, reports of being very satisfied were observed in 12 patients taking telotristat ethyl and 0 taking placebo. Patient interviews revealed that TELESTAR patients, at baseline, were significantly affected by their high BM frequency. Patient reports of their clinical trial experience supported the significance of the primary end point and clinical responder analysis in TELESTAR, helping identify and understand clinically meaningful change produced by telotristat ethyl. Copyright © 2017 The Authors. Published by Elsevier Inc. All rights reserved.

Comparison of hyponatremia and SIADH frequency in patients with tick borne encephalitis and meningitis of other origin.

PubMed

Czupryna, Piotr; Moniuszko, Anna; Garkowski, Adam; Pancewicz, Sławomir; Zajkowska, Joanna

2016-01-01

The aim of the study was the evaluation of frequency and origin of hyponatremia in tick borne encephalitis (TBE) in comparison to non-TBE viral meningitis and bacterial meningitis. A total of 124 patients aged 18-80 years, with TBE were included to the study. The mild form of TBE was diagnosed in 59 patients, while the severe form was diagnosed in 65 patients. The first control group (VMG) consisted of 72 patients with viral meningitis, but excluded TBE. The second control group (BMG) consisted of 16 patients diagnosed with bacterial meningitis. Hyponatremia was diagnosed in 55 (44.4%) patients with TBE. In 12 (9.7%) patients (mean age 56.6 ± 19.9 years; 9 men, 3 women) syndrome of inappropriate secretion of antidiuretic hormone (SIADH) was diagnosed. In VMG hyponatremia was diagnosed in 7 (9.7%) patients. In the age group <35 years and in the age group of 50-64 years the frequency of hyponatremia and SIADH was higher in TBE than in VMG (p < 0.05). In BMG hyponatremia was diagnosed in 6 (37.5%) patients. No statistically significant differences in frequency of hyponatremia between BMG and TBE groups were observed. (1) Hyponatremia is a common disorder in TBE and is more frequent than in other viral types of meningitis, especially in young patients (< 35 years). (2) The most common cause of hyponatremia in TBE patients is dehydration and fluid supplementation should be a treatment of choice. (3) Overall, 16.9% of the patients with the severe form of TBE develop SIADH syndrome and they required treatment based on fluid restriction and hypertonic saline infusion.

Frequency of technical complications in fixed implant prosthesis: the effect of prosthesis screw emergence correction by CAD-CAM.

PubMed

Anitua, Eduardo; Flores, Carlos; Piñas, Laura; Alkhraisat, Mohammad

2018-06-05

CAD-CAM technology permits the angular correction of screw emergence into the prosthesis, however there is lack of controlled clinical studies that assess the frequency of technical complications in angled screw channel restorations. This controlled clinical study was designed to assess technical incidences in angled screw channel restorations. Patients having implant prosthesis placed between November, 2014 and December, 2015 were screened. The patients were selected if they received prosthesis with up to 30º correction of the prosthesis screw emergence and had at least one non-angulated prosthesis (screw-retained). All the prostheses were located completely/partially in the posterior region. The frequency of technical complications was the principal variable. A total of 52 patients with a mean age of 62 ± 10 years participated with a total 110 prostheses (55 in the test group and 55 in the control group). A total of 11 technical complications occurred (7 in the test group and 4 in the control group). These differences were not statistically significant. All the prostheses in both groups survived the follow-up. The correction of the screw emergence into the prosthesis has not increased the risk of technical complications in CAD-CAM implant prostheses.

Selective Defects of Visual Tracking in Progressive Supranuclear Palsy (PSP): Implications for mechanisms of motion vision

PubMed Central

Joshi, Anand C.; Riley, David E.; Mustari, Michael J.; Cohen, Mark L.; Leigh, R. John

2010-01-01

Smooth ocular tracking of a moving visual stimulus comprises a range of responses that encompass the ocular following response (OFR), a pre-attentive, short-latency mechanism, and smooth pursuit, which directs the retinal fovea at the moving stimulus. In order to determine how interdependent these two forms of ocular tracking are, we studied vertical OFR in progressive supranuclear palsy (PSP), a parkinsonian disorder in which vertical smooth pursuit is known to be impaired. We measured eye movements of 9 patients with PSP and 12 healthy control subjects. Subjects viewed vertically moving sine-wave gratings that had a temporal frequency of 16.7 Hz, contrast of 32%, and spatial frequencies of 0.17, 0.27 or 0.44 cycles/°. We measured OFR amplitude as change in eye position in the 70 – 150 ms, open-loop interval following stimulus onset. Vertical smooth pursuit was studied as subjects attempted to track a 0.27 cycles/° grating moving sinusoidally through several cycles at frequencies between 0.1 – 2.5 Hz. We found that OFR amplitude, and its dependence on spatial frequency, was similar in PSP patients (group mean 0.10°) and control subjects (0.11°), but the latency to onset of OFR was greater for PSP patients (group mean 99 ms) than control subjects (90 ms). When OFR amplitude was re-measured, taking into account the increased latency in PSP patients, there was still no difference from control subjects. We confirmed that smooth pursuit was consistently impaired in PSP; group mean tracking gain at 0.7 Hz was 0.29 for PSP patients and 0.63 for controls. Neither PSP patients nor control subjects showed any correlation between OFR amplitude and smooth-pursuit gain. We propose that OFR is spared because it is generated by low-level motion processing that is dependent on posterior cerebral cortex, which is less affected in PSP. Conversely, smooth pursuit depends more on projections from frontal cortex to the pontine nuclei, both of which are involved in PSP. The accessory optic pathway, which is heavily involved in PSP, seems unlikely to contribute to the OFR in humans. PMID:20123108

HLA association in Singapore children with Grave's disease.

PubMed

Tan Siok-Hoon; Chan Soh-Ha; Lee Bee-Wah; Wee Guan-Bock; Wong Hock-Boon

1988-06-01

HLA associations in patients with Grave's disease are B8 in whites and BW35 in Japanese. This study shows the HLA association of Singapore Chinese children with Grave's disease. Forty unrelated Chinese children with Grave's disease were typed. The control population consisted of 238 consecutive unrelated normal Chinese individuals. Patients with Grave's disease showed a significantly higher frequency of BW46 than control subjects (corrected P = .0005, relative risk (RR) = 4.61). Only two patients had BW35 and none had B8. There was an increased frequency of both homozygotes and heterozygotes in thyrotoxic patients compared with controls, the RR being slightly higher in the homozygotes. Among the patients, BW46 was most frequently associated with B40, B13, and B15. The joint occurrence of BW46/B40 in thyrotoxic children had a lower relative risk than BW46 alone, whereas the joint occurrence of BW46/B13 had a higher relative risk than BW46 alone.

Impact of a Pay-for-Performance Program on Care for Black Patients with Hypertension: Important Answers in the Era of the Affordable Care Act.

PubMed

Petersen, Laura A; Ramos, Kate Simpson; Pietz, Kenneth; Woodard, LeChauncy D

2017-06-01

Evaluate the effect of a pay-for-performance intervention on the quality of hypertension care provided to black patients and determine whether it produced risk selection. Primary data collected between 2007 and 2009 from Veterans Affairs physicians and their primary care panels. Nested study within a cluster randomized controlled trial of three types of financial incentives and no incentives (control). We compared the proportion of physicians' black patients meeting hypertension performance measures for baseline and final performance periods. We measured risk selection by comparing the proportion of patients who switched providers, patient visit frequency, and panel turnover. Due to limited power, we prespecified in the analysis plan combining the three incentive groups and oversampling black patients. Data collected electronically and by chart review. The proportion of black patients who achieved blood pressure control or received an appropriate response to uncontrolled blood pressure in the final period was 6.3 percent (95 percent confidence interval, 0.8-11.7 percent) greater for physicians who received an incentive than for controls. There was no difference between intervention and controls in the proportion of patients who switched providers, visit frequency, or panel turnover. A pay-for-performance intervention improved blood pressure control or appropriate response to uncontrolled blood pressure in black patients and did not produce risk selection. © Published 2016. This article is a U.S. Government work and is in the public domain in the USA.

Polymorphisms in NOS3, MTHFR, APOB and TNF-α Genes and Risk of Coronary Atherosclerotic Lesions in Iranian Patients

PubMed Central

Heidari, Mohammad Mehdi; Khatami, Mehri; Hadadzadeh, Mehdi; Kazemi, Mahbobeh; Mahamed, Sahar; Malekzadeh, Pegah; Mirjalili, Massomeh

2015-01-01

Background: Atherosclerosis is a complex multifocal arterial disease involving interactions between multiple genetic and environmental factors. Objectives: In the present study, we investigated the possible association between NOS3 (rs1799983), MTHFR (rs1801133), APOB (rs5742904) and TNF-α (rs361525) polymorphisms and the risk of coronary atherosclerotic lesions in Iranian patients. Patients and Methods: In the case-control study, 108 patients with coronary atherosclerosis disease and 95 control subjects with no family history of cardiovascular disease were enrolled. Genotypes for NOS3, MTHFR, APOB and TNF-α polymorphisms were identified using polymerase chain reaction (PCR)-restriction fragment length polymorphism (RFLP). Results: We specifically detected the NOS3 TT genotype in 12 patients (11.11%) and did not find the same genotype in any of the controls. The frequencies of T allele in patients and the controls were 24% and 17.8%, respectively. The prevalence of the MTHFR TT genotype was 16.7% in patients and 2.2% in control groups. The prevalence of the APOB-100 (R3500Q) mutation in this patient population was 0%. The frequency of the A allele in the TNF-α gene was 11.1% and 11% in patients and controls, respectively, and the AA genotype was undetected. Conclusions: Our results show a significant association of NOS3 and MTHFR gene polymorphisms with coronary atherosclerotic lesions. Therefore, these variants might influence the risk of coronary artery disease, specifically in the Iranian population. PMID:26878010

Telotristat Ethyl, a Tryptophan Hydroxylase Inhibitor for the Treatment of Carcinoid Syndrome.

PubMed

Kulke, Matthew H; Hörsch, Dieter; Caplin, Martyn E; Anthony, Lowell B; Bergsland, Emily; Öberg, Kjell; Welin, Staffan; Warner, Richard R P; Lombard-Bohas, Catherine; Kunz, Pamela L; Grande, Enrique; Valle, Juan W; Fleming, Douglas; Lapuerta, Pablo; Banks, Phillip; Jackson, Shanna; Zambrowicz, Brian; Sands, Arthur T; Pavel, Marianne

2017-01-01

Purpose Preliminary studies suggested that telotristat ethyl, a tryptophan hydroxylase inhibitor, reduces bowel movement (BM) frequency in patients with carcinoid syndrome. This placebo-controlled phase III study evaluated telotristat ethyl in this setting. Patients and Methods Patients (N = 135) experiencing four or more BMs per day despite stable-dose somatostatin analog therapy received (1:1:1) placebo, telotristat ethyl 250 mg, or telotristat ethyl 500 mg three times per day orally during a 12-week double-blind treatment period. The primary end point was change from baseline in BM frequency. In an open-label extension, 115 patients subsequently received telotristat ethyl 500 mg. Results Estimated differences in BM frequency per day versus placebo averaged over 12 weeks were -0.81 for telotristat ethyl 250 mg ( P < .001) and ‒0.69 for telotristat ethyl 500 mg ( P < .001). At week 12, mean BM frequency reductions per day for placebo, telotristat ethyl 250 mg, and telotristat ethyl 500 mg were -0.9, -1.7, and -2.1, respectively. Responses, predefined as a BM frequency reduction ≥ 30% from baseline for ≥ 50% of the double-blind treatment period, were observed in 20%, 44%, and 42% of patients given placebo, telotristat ethyl 250 mg, and telotristat ethyl 500 mg, respectively. Both telotristat ethyl dosages significantly reduced mean urinary 5-hydroxyindole acetic acid versus placebo at week 12 ( P < .001). Mild nausea and asymptomatic increases in gamma-glutamyl transferase were observed in some patients receiving telotristat ethyl. Follow-up of patients during the open-label extension revealed no new safety signals and suggested sustained BM responses to treatment. Conclusion Among patients with carcinoid syndrome not adequately controlled by somatostatin analogs, treatment with telotristat ethyl was generally safe and well tolerated and resulted in significant reductions in BM frequency and urinary 5-hydroxyindole acetic acid.

Th17 cells and CD4(+) multifunctional T cells in patients with systemic lupus erythematosus.

PubMed

Araújo, Júlio Antônio Pereira; Mesquita, Danilo; de Melo Cruvinel, Wilson; Salmazi, Karina Inácio; Kallás, Esper Georges; Andrade, Luis Eduardo Coelho

2016-01-01

Recent evidence suggests that abnormalities involving Th17 lymphocytes are associated with the pathophysiology of systemic lupus erythematosus (SLE). In addition, multifunctional T cells (MFT), i.e., those producing multiple cytokines simultaneously, are present in the inflammatory milieu and may be implicated in the autoimmune process observed in SLE. In the present study, we aimed to characterize the functional status of CD4(+) T cells in SLE by simultaneously determining the concentration of IL-2, IFN-γ and IL-17 in lymphocyte cultures under exogenous and self-antigenic stimuli. Eighteen patients with active disease, 18 with inactive disease, and 14 healthy controls had functional status of CD4(+) T cells analyzed. We found that SLE patients presented a decreased number of total CD4(+) cells, an increased number of activated T cells, and an increased frequency of Th17 cells compared to healthy controls (HC). MFT cells had increased frequency in SLE patients and there was an increased frequency of tri-functional MFT in patients with active SLE compared with those with inactive SLE. Interestingly, MTF cells produced larger amounts of IFNγ than mono-functional T cells in patients and controls. Taken together these data indicate the participation of recently activated Th17 cells and MTF cells in the SLE pathophysiology. Copyright © 2015 Elsevier Editora Ltda. All rights reserved.

Alcohol and aldehyde dehydrogenase polymorphisms in Chinese and Indian populations.

PubMed

Tan, Ene-Choo; Lim, Leslie; Leong, Jern-Yi; Lim, Jing-Yan; Lee, Arthur; Yang, Jun; Tan, Chay-Hoon; Winslow, Munidasa

2010-01-01

The association between two functional polymorphisms in alcohol dehydrogenase (ADH2/ADH1B) and aldehyde dehydrogenase (ALDH2) genes and alcohol dependence was examined in 182 Chinese and Indian patients undergoing treatment for alcohol dependence and 184 screened control subjects from Singapore. All subjects were screened by the Alcohol Use Disorders Identification Test (AUDIT). Patients were also administered the Severity of Alcohol Dependence Questionnaire (SADQ). Polymorphisms were genotyped by allele-specific polymerase chain reaction and selected genotypes confirmed by DNA sequencing or restriction fragment length polymorphism. Our results showed that frequencies of ADH1B*2 and ALDH2*2 were higher in controls compared to alcohol-dependent subjects for both Chinese and Indians. Frequencies of these two alleles were also higher in the 104 Chinese controls compared to the 80 Indian controls. None of the eight Chinese who were homozygous for both protective alleles was alcohol dependent. The higher frequencies of the protective alleles could explain the lower rate of alcohol dependence in Chinese.

A strong association between HLA-DR9 and gelatin allergy in the Japanese population.

PubMed

Kumagai, T; Yamanaka, T; Wataya, Y; Saito, A; Okui, T; Yano, S; Tsutsumi, H; Chiba, S; Wakisaka, A

2001-04-30

The frequency of HLA class I and II phenotypes was determined among 23 patients with positive gelatin IgE, eight of whom developed anaphylaxis, 18 patients who did not have gelatin IgE but who experienced non-immediate reactions after exposure to gelatin. HLA-DR9, which is unique to Orientals, was present in 56.5% of the gelatin IgE positive patients, as compared to control population frequency of 24% (P < 0.002). In the non-immediate reaction group, who did not generate IgE, phenotype distribution resembled controls. HLA-DR9 positive individuals have a relative risk of 4.1 for developing gelatin allergy with positive IgE.

Selective impairment of hippocampus and posterior hub areas in Alzheimer's disease: an MEG-based multiplex network study.

PubMed

Yu, Meichen; Engels, Marjolein M A; Hillebrand, Arjan; van Straaten, Elisabeth C W; Gouw, Alida A; Teunissen, Charlotte; van der Flier, Wiesje M; Scheltens, Philip; Stam, Cornelis J

2017-05-01

Although frequency-specific network analyses have shown that functional brain networks are altered in patients with Alzheimer's disease, the relationships between these frequency-specific network alterations remain largely unknown. Multiplex network analysis is a novel network approach to study complex systems consisting of subsystems with different types of connectivity patterns. In this study, we used magnetoencephalography to integrate five frequency-band specific brain networks in a multiplex framework. Previous structural and functional brain network studies have consistently shown that hub brain areas are selectively disrupted in Alzheimer's disease. Accordingly, we hypothesized that hub regions in the multiplex brain networks are selectively targeted in patients with Alzheimer's disease in comparison to healthy control subjects. Eyes-closed resting-state magnetoencephalography recordings from 27 patients with Alzheimer's disease (60.6 ± 5.4 years, 12 females) and 26 controls (61.8 ± 5.5 years, 14 females) were projected onto atlas-based regions of interest using beamforming. Subsequently, source-space time series for both 78 cortical and 12 subcortical regions were reconstructed in five frequency bands (delta, theta, alpha 1, alpha 2 and beta band). Multiplex brain networks were constructed by integrating frequency-specific magnetoencephalography networks. Functional connections between all pairs of regions of interests were quantified using a phase-based coupling metric, the phase lag index. Several multiplex hub and heterogeneity metrics were computed to capture both overall importance of each brain area and heterogeneity of the connectivity patterns across frequency-specific layers. Different nodal centrality metrics showed consistently that several hub regions, particularly left hippocampus, posterior parts of the default mode network and occipital regions, were vulnerable in patients with Alzheimer's disease compared to control subjects. Of note, these detected vulnerable hubs in Alzheimer's disease were absent in each individual frequency-specific network, thus showing the value of integrating the networks. The connectivity patterns of these vulnerable hub regions in the patients were heterogeneously distributed across layers. Perturbed cognitive function and abnormal cerebrospinal fluid amyloid-β42 levels correlated positively with the vulnerability of the hub regions in patients with Alzheimer's disease. Our analysis therefore demonstrates that the magnetoencephalography-based multiplex brain networks contain important information that cannot be revealed by frequency-specific brain networks. Furthermore, this indicates that functional networks obtained in different frequency bands do not act as independent entities. Overall, our multiplex network study provides an effective framework to integrate the frequency-specific networks with different frequency patterns and reveal neuropathological mechanism of hub disruption in Alzheimer's disease. © The Author (2017). Published by Oxford University Press on behalf of the Guarantors of Brain. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

Fixed multibracket dental therapy has challenges but can be successfully performed in young persons with Down syndrome.

PubMed

Abeleira, María Teresa; Pazos, Elisabeth; Limeres, Jacobo; Outumuro, Mercedes; Diniz, Márcio; Diz, Pedro

2016-07-01

Purpose The objective of this study was to analyze the feasibility of orthodontic treatment with fixed multibracket dental appliances (FMAs) in patients with Down syndrome (DS). Methods The study sample was formed of 25 patients with DS who underwent orthodontic treatment with FMAs. Dental and skeletal characteristics, aspects of FMA treatment, retainer use and recurrences were analyzed. Results were compared with a control group of healthy, age-, sex- and PAR index-matched individuals. Results All the controls underwent a single desensitization session, whereas 2-3 sessions were necessary in 11 patients with DS (p < 0.001). All the controls underwent bimaxillary treatment, compared with 11 patients with DS (p < 0.001). Only 8 patients with DS wore intermaxillary elastics, compared with 19 controls (p = 0.004). Complications were more common in patients with DS than in controls (p = 0.003), due particularly to traumatic ulcers development. There were more failures during the maintenance phase in patients with DS than in controls (p = 0.001). The mean duration of treatment was 37 months in patients with DS and 23 months in controls. More cemented retainers were used in the controls than in patients with DS (p = 0.050). Conclusions It is possible to perform orthodontic treatment with FMAs in patients with DS, although treatment may take longer than usual and the frequency of complications is higher than in controls. Implications for Rehabilitation Certain dental characteristics of Down syndrome (DS) make these children firm candidates for orthodontic intervention. There is little literature available on orthodontic treatment in patients with DS, particularly with regard to the use of fixed appliances. This case-control study shows that it is possible to perform orthodontic treatment with fixed appliances in adequately selected patients with DS. However, in patients with DS orthodontic treatment may take longer than usual and the frequency of complications is higher than in the general population.

Impact of Clinical Factors on the Achievement of Target Blood Pressure in Hypertensive Patients from Ivanovo Region of Russia: Data of 2015.

PubMed

Kiselev, A R; Posnenkova, O M; Belova, O A; Romanchuk, S V; Popova, Y V; Prokhorov, M D; Gridnev, V I

2017-12-01

In Russia, blood pressure (BP) control is below the optimal. The little is known about regional features and barriers to adequate BP control in Russian primary care. To evaluate the impact of clinical factors on achieving the target BP in hypertensive patients in one region of Russia. Retrospective medical data of 2015 on 11,129 patients (31.4% male) with hypertension (Htn) from Ivanovo region of Russia were examined. Achievement of target BP was assessed in all patients. We study association between BP control and clinical factors. 45.9% of studied patients with Htn had controlled BP. The frequency of achieving the target BP in subsets of hypertensive patients was 37.8% in patients with diabetes, 39.5% in patients with coronary artery disease, and 29.9% in patients with chronic heart failure. The main clinical factors associated with achieving the target BP in studied hypertensive patients were the advice on alcohol consumption, advice on smoking cessation, and advice on weight reduction. Therapy with main antihypertensive drugs (in particular, beta-blockers and thiazide diuretics) were also factors of optimal BP control in these patients. Comorbidities (chronic heart failure and cardiovascular diseases requiring the prescription of aspirin and statins) and family history of coronary artery disease were associated with inadequate BP control. A negative effect of some antihypertensive drugs (potassium sparing diuretics, ARBs, ACE-Is, and dihydropyridine CCBs) on BP control that was found out in our study requires further investigation. Other studied factors had no influence on BP control in patients with Htn from Ivanovo region. We identified regional factors of BP control in hypertensive patients from Ivanovo region of Russia. It is shown that individual medical education (in particular, medical advices) is the most important factor of optimal BP control. The intervention with antihypertensive therapy (beta-blockers and thiazide diuretics) facilitates the achievement of target BP. Comorbidity and age reduce the frequency of achieving the target BP.

Resting state cortical oscillations of patients with Parkinson disease and with and without subthalamic deep brain stimulation: a magnetoencephalography study.

PubMed

Cao, Chunyan; Li, Dianyou; Jiang, Tianxiao; Ince, Nuri Firat; Zhan, Shikun; Zhang, Jing; Sha, Zhiyi; Sun, Bomin

2015-04-01

In this study, we investigate the modification to cortical oscillations of patients with Parkinson disease (PD) by subthalamic deep brain stimulation (STN-DBS). Spontaneous cortical oscillations of patients with PD were recorded with magnetoencephalography during on and off subthalamic nucleus deep brain stimulation states. Several features such as average frequency, average power, and relative subband power in regions of interest were extracted in the frequency domain, and these features were correlated with Unified Parkinson Disease Rating Scale III evaluation. The same features were also investigated in patients with PD without surgery and healthy controls. Patients with Parkinson disease without surgery compared with healthy controls had a significantly lower average frequency and an increased average power in 1 to 48 Hz range in whole cortex. Higher relative power in theta and simultaneous decrease in beta and gamma over temporal and occipital were also observed in patients with PD. The Unified Parkinson Disease Rating Scale III rigidity score correlated with the average frequency and with the relative power of beta and gamma in frontal areas. During subthalamic nucleus deep brain stimulation, the average frequency increased significantly when stimulation was on compared with off state. In addition, the relative power dropped in delta, whereas it rose in beta over the whole cortex. Through the course of stimulation, the Unified Parkinson Disease Rating Scale III rigidity and tremor scores correlated with the relative power of alpha over left parietal. Subthalamic nucleus deep brain stimulation improves the symptoms of PD by suppressing the synchronization of alpha rhythm in somatomotor region.

Hemorheology and heart rate variability in patients with diabetes mellitus type 2.

PubMed

Velcheva, Irena; Damianov, Petar; Mantarova, Stefka; Antonova, Nadia

2011-01-01

Our study aimed to investigate the relationship between hemorheological parameters and heart rate variability (HRV) in patients with diabetes mellitus type 2. Hemorheological variables, including hematocrit (Ht), fibrinogen (Fib), whole blood (WBV) and plasma viscosity (PV) at shear rates of 0.0237 s(-1) to 128.5 s(-1) were examined in 20 patients with diabetes mellitus type 2 and in 10 control subjects. They all underwent non-invasive short-term monitoring of heart rate at rest and after passive head-up tilt. Measurement of the R-R intervals and calculation of the time domain parameters and the power spectral data were performed by our softwear, using fast Fourier transformation. Significant increase of Fib and WBV in the patients in comparison to controls was found within the range of shear rates 0.0237 s(-1) to 128.5 s(-1). In the diabetic patients parallel decrease of the total power (TP), the low frequency spectral power (LF) and of the mean RR and mild increase of the low frequency-high frequency ratio (LF/HF) at rest were established. This tendency was kept after the passive tilt. In patients with diabetes mellitus type 2 the increased blood viscosity was associated with reduced HRV.

Assessment of Time and Frequency Domain Parameters of Heart Rate Variability and Interictal Cardiac Rhythm Abnormalities in Drug-naïve Patients with Idiopathic Generalized Epilepsy.

PubMed

Kilinc, Ozden; Cincin, Altug; Pehlivan, Aslihan; Midi, Ipek; Kepez, Alper; Agan, Kadriye

2016-06-01

Epilepsy is a disease known to occur with autonomous phenomenons. Earlier studies indicate decreased heart rate variability (HRV) during ictal and interictal periods among epilepsy patients. In this study, we aim to investigate cardiac rhythm abnormalities and HRV during interictal period between drug-naïve patients with idiopathic generalized epilepsy (IGE) and healthy control group. Twenty-six patients with IGE and 26 healthy individuals included in the study. In order to eliminate any structural cardiac pathology, transthoracic echocardiography was performed in all subjects and time and frequency domain parameters of HRV were evaluated after 24-hour rhythm holter monitoring. Between two groups, no significant difference was detected in terms of mean heart rate and maximum duration between the start of the Q waves and the end of the T waves (QT intervals). In the time domain analysis of HRV, no statically significant difference was detected for standard deviation of all R - R intervals and root-mean-square of successive differences between patient and control group (p = 0,070 and p = 0,104 respectively). In the frequency domain analysis of HRV, patients tended to display lower total power and very low frequency power than did healthy subjects, but the differences were not statistically significant. Our results suggest that there is no major effect of the epilepsy on HRV in patients with IGE. It should be emphasized that, in this study, HRV was evaluated only in patients with IGE and that the results are not proper to be generalized for patients with partial seizures.

Topographical distribution of fast and slow sleep spindles in medicated depressive patients.

PubMed

Nishida, Masaki; Nakashima, Yusaku; Nishikawa, Toru

2014-10-01

To compare the properties of sleep spindles between healthy subjects and medicated patients with major depressive episode, including frequency range, spectra power, and spatial distribution of spindle power. Continuous 16-channel EEG was used to record nocturnal sleep in healthy control subjects and medicated depressive patients. Recordings were analyzed for changes in EEG power spectra and power topography. Additionally, we graphically demonstrated the pattern of spatial distribution of each type of sleep spindle, divided into fast (12.5-14 Hz) and slow spindles (11-12.5 Hz). Sleep EEG records of depressive subjects exhibited a significantly higher amplitude of slow spindles in the prefrontal region, compared with the healthy controls (P < 0.01). Fast spindles were dominant in the centroparietal region in both depressive patients and the control group. Enhanced slow spindles in the prefrontal region were observed in the medicated depressive patients and not in the healthy controls. The frequency of fast spindles in depressive patients was globally higher than that in healthy participants. The alteration in sleep spindles seen in medicated depressive subjects may reflect a pharmacological modulation of synaptic function involving the thalamic-reticular and thalamocortical mechanisms.

Association of Angiotensin-Converting Enzyme ACE Gene Polymorphism with ACE Activity and Susceptibility to Vitiligo in Egyptian Population.

PubMed

Badran, Dahlia I; Nada, Hesham; Hassan, Ranya

2015-05-01

The insertion/deletion (I/D) polymorphism of the angiotensin-converting enzyme (ACE) gene is associated with vitiligo in the Indians and Koreans, but not in those of English or Turkish background. We investigated the ACE (I/D) polymorphism in vitiligo patients for the first time in Egypt and compared serum ACE levels between vitiligo patients and controls. The present study was carried out in 100 vitiligo patients (40 males and 60 females) and in 100 healthy controls of an Egyptian population using the polymerase chain reaction genotyping method. The ACE genotype and allele frequency was significantly different between vitiligo patients and controls. Our results revealed a significant increase in the frequency of the ACE I allele (p=0.002; odds ratio: 1.99; 95% confidence intervals: 1.207-3.284) with an overrepresentation of I/D genotype in the vitiligo patient group. Furthermore, there was a significant difference between the segmental, nonsegmental, and focal vitiligo in ACE gene genotype distribution. Serum ACE levels were significantly increased in vitiligo patients compared to controls (p=0.034). This study suggests that, for the first time, ACE gene polymorphism confers susceptibility to vitiligo in the Egyptian population.

Dead space and slope indices from the expiratory carbon dioxide tension-volume curve.

PubMed

Kars, A H; Bogaard, J M; Stijnen, T; de Vries, J; Verbraak, A F; Hilvering, C

1997-08-01

The slope of phase 3 and three noninvasively determined dead space estimates derived from the expiratory carbon dioxide tension (PCO2) versus volume curve, including the Bohr dead space (VD,Bohr), the Fowler dead space (VD,Fowler) and pre-interface expirate (PIE), were investigated in 28 healthy control subjects, 12 asthma and 29 emphysema patients (20 severely obstructed and nine moderately obstructed) with the aim to establish diagnostic value. Because breath volume and frequency are closely related to CO2 elimination, the recording procedures included varying breath volumes in all subjects during self-chosen/natural breathing frequency, and fixed frequencies of 10, 15 and 20 breaths x min(-1) with varying breath volumes only in the healthy controls. From the relationships of the variables with tidal volume (VT), the values at 1 L were estimated to compare the groups. The slopes of phase 3 and VD,Bohr at 1 L VT showed the most significant difference between controls and patients with asthma or emphysema, compared to the other two dead space estimates, and were related to the degree of airways obstruction. Discrimination between no-emphysema (asthma and controls) and emphysema patients was possible on the basis of a plot of intercept and slope of the relationship between VD,Bohr and VT. A combination of both the slope of phase 3 and VD,Bohr of a breath of 1 L was equally discriminating. The influence of fixed frequencies in the controls did not change the results. The conclusion is that Bohr dead space in relation to tidal volume seems to have diagnostic properties separating patients with asthma from patients with emphysema with the same degree of airways obstruction. Equally discriminating was a combination of both phase 3 and Bohr dead space of a breath of 1 L. The different pathophysiological mechanisms in asthma and emphysema leading to airways obstruction are probably responsible for these results.

Efficacy, safety and tolerability of an orally administered cannabis extract in the treatment of spasticity in patients with multiple sclerosis: a randomized, double-blind, placebo-controlled, crossover study.

PubMed

Vaney, C; Heinzel-Gutenbrunner, M; Jobin, P; Tschopp, F; Gattlen, B; Hagen, U; Schnelle, M; Reif, M

2004-08-01

Cannabis may alleviate some symptoms associated with multiple sclerosis (MS). This study investigated the effect of an orally administered standardized Cannabis sativa plant extract in MS patients with poorly controlled spasticity. During their inpatient rehabilitation programme, 57 patients were enrolled in a prospective, randomized, double-blind, placebo-controlled crossover study of cannabis-extract capsules standardized to 2.5 mg tetrahydrocannabinol (THC) and 0.9 mg cannabidiol (CBD) each. Patients in group A started with a drug escalation phase from 15 to maximally 30 mg THC by 5 mg per day if well tolerated, being on active medication for 14 days before starting placebo. Patients in group B started with placebo for seven days, crossed to the active period (14 days) and closed with a three-day placebo period (active drug dose escalation and placebo sham escalation as in group A). Measures used included daily self-report of spasm frequency and symptoms, Ashworth Scale, Rivermead Mobility Index, 10-m timed walk, nine-hole peg test, paced auditory serial addition test (PASAT), and the digit span test. In the 50 patients included into the intention-to-treat analysis set, there were no statistically significant differences associated with active treatment compared to placebo, but trends in favour of active treatment were seen for spasm frequency, mobility and getting to sleep. In the 37 patients (per-protocol set) who received at least 90% of their prescribed dose, improvements in spasm frequency (P = 0.013) and mobility after excluding a patient who fell and stopped walking were seen (P = 0.01). Minor adverse events were slightly more frequent and severe during active treatment, and toxicity symptoms, which were generally mild, were more pronounced in the active phase. A standardized Cannabis sativa plant extract might lower spasm frequency and increase mobility with tolerable side effects in MS patients with persistent spasticity not responding to other drugs.

The Objective Assessment of Cough Frequency in Bronchiectasis.

PubMed

Spinou, Arietta; Lee, Kai K; Sinha, Aish; Elston, Caroline; Loebinger, Michael R; Wilson, Robert; Chung, Kian Fan; Yousaf, Nadia; Pavord, Ian D; Matos, Sergio; Garrod, Rachel; Birring, Surinder S

2017-10-01

Cough in bronchiectasis is associated with significant impairment in health status. This study aimed to quantify cough frequency objectively with a cough monitor and investigate its relationship with health status. A secondary aim was to identify clinical predictors of cough frequency. Fifty-four patients with bronchiectasis were compared with thirty-five healthy controls. Objective 24-h cough, health status (cough-specific: Leicester Cough Questionnaire LCQ and bronchiectasis specific: Bronchiectasis Health Questionnaire BHQ), cough severity and lung function were measured. The clinical predictors of cough frequency in bronchiectasis were determined in a multivariate analysis. Objective cough frequency was significantly raised in patients with bronchiectasis compared to healthy controls [geometric mean (standard deviation)] 184.5 (4.0) vs. 20.6 (3.2) coughs/24-h; mean fold-difference (95% confidence interval) 8.9 (5.2, 15.2); p < 0.001 and they had impaired health status. There was a significant correlation between objective cough frequency and subjective measures; LCQ r = -0.52 and BHQ r = -0.62, both p < 0.001. Sputum production, exacerbations (between past 2 weeks to 12 months) and age were significantly associated with objective cough frequency in multivariate analysis, explaining 52% of the variance (p < 0.001). There was no statistically significant association between cough frequency and lung function. Cough is a common and significant symptom in patients with bronchiectasis. Sputum production, exacerbations and age, but not lung function, were independent predictors of cough frequency. Ambulatory objective cough monitoring provides novel insights and should be further investigated as an outcome measure in bronchiectasis.

Memory impairment is not necessarily related to seizure frequency in mesial temporal lobe epilepsy with hippocampal sclerosis.

PubMed

Pacagnella, Denise; Lopes, Tatila M; Morita, Marcia E; Yasuda, Clarissa L; Cappabianco, Fabio A M; Bergo, Felipe; Balthazar, Marcio L F; Coan, Ana C; Cendes, Fernando

2014-08-01

To investigate the effect of seizure frequency on memory, we performed a cross sectional study comparing mesial temporal lobe epilepsy (MTLE) patients with frequent and infrequent seizures. We performed magnetic resonance imaging (MRI) hippocampal volume (HV) measurements and neuropsychological assessment in 22 patients with frequent seizures (at least one dyscognitive seizure [DS] per month) that were refractory to antiepileptic drugs and 20 patients with infrequent seizures (three or less DS per year and no event evolving to a bilateral convulsive seizure), all with MRI signs of hippocampal sclerosis (HS) on visual analysis. We also included 29 controls for comparison of volumetric data. There was no difference in memory performance between patients with frequent seizures and infrequent seizures. We observed a significant bilateral reduction of HV in patients with MTLE when compared to controls (p < 0.001). The degree of hippocampal atrophy (HA) between patients with frequent and infrequent seizures was not different. There was a negative correlation between seizure frequency and HV, with r = -0.3 for the HV ipsilateral to the HS and r = -0.55 for the contralateral side, thus, explaining only 9% and 30% of the HV loss. There was a positive correlation between age of onset and degree of HA (r = 0.37). Our data suggest that seizure frequency does not explain most of the HV loss or memory impairment in MTLE. Memory impairment appears to be more influenced by hippocampal damage than by seizure frequency. Further studies are necessary to identify the factors that influence memory decline in patients with MTLE. Wiley Periodicals, Inc. © 2014 International League Against Epilepsy.

Impact of chronic obstructive pulmonary diseases on left ventricular diastolic function in hospitalized elderly patients.

PubMed

Huang, Ying-Shuo; Feng, Ying-Chao; Zhang, Jian; Bai, Li; Huang, Wei; Li, Min; Sun, Ying

2015-01-01

To evaluate the impact of chronic obstructive pulmonary disease (COPD) on left ventricular (LV) diastolic function in hospitalized elderly patients. This was a case-control observational study of 148 consecutive hospitalized elderly patients (≥65 years old): 73 subjects without COPD as controls and 75 patients with COPD. Mild-to-moderate COPD was defined as stages 1 and 2, while severe and very severe COPD was defined as stages 3 and 4, according to the Global Initiative for Chronic Obstructive Lung Disease guidelines. Clinical characteristics and echocardiographic parameters were analyzed and compared. Compared with the control group, patients with COPD had a higher frequency of LV diastolic dysfunction and heart failure with preserved ejection fraction. Smoking frequency, frequency of cerebrovascular diseases and diabetes, and serum N-terminal pro-B-type natriuretic peptide (NT-proBNP) levels were higher in the COPD group (all P<0.05). COPD patients showed more abnormalities in diastolic function (E/e': 11.51±2.50 vs 10.42±3.25, P=0.047), but no differences in systolic function and right ventricular function (all P>0.05). Patients with severe/very severe COPD showed no differences in LV diastolic function compared to patients with mild/moderate COPD (P>0.05), but serum NT-proBNP levels were higher in severe/very severe COPD (P<0.05). Results suggest that early-stage COPD may have an impact on the LV diastolic function. Severe COPD mainly affected right ventricular function. In hospitalized elderly patients with COPD, LV diastolic dysfunction should be taken into account together with right ventricular function.

Analysis of error type and frequency in apraxia of speech among Portuguese speakers.

PubMed

Cera, Maysa Luchesi; Minett, Thaís Soares Cianciarullo; Ortiz, Karin Zazo

2010-01-01

Most studies characterizing errors in the speech of patients with apraxia involve English language. To analyze the types and frequency of errors produced by patients with apraxia of speech whose mother tongue was Brazilian Portuguese. 20 adults with apraxia of speech caused by stroke were assessed. The types of error committed by patients were analyzed both quantitatively and qualitatively, and frequencies compared. We observed the presence of substitution, omission, trial-and-error, repetition, self-correction, anticipation, addition, reiteration and metathesis, in descending order of frequency, respectively. Omission type errors were one of the most commonly occurring whereas addition errors were infrequent. These findings differed to those reported in English speaking patients, probably owing to differences in the methodologies used for classifying error types; the inclusion of speakers with apraxia secondary to aphasia; and the difference in the structure of Portuguese language to English in terms of syllable onset complexity and effect on motor control. The frequency of omission and addition errors observed differed to the frequency reported for speakers of English.

Coexistence of Th1/Th2 and Th17/Treg imbalances in patients with allergic asthma.

PubMed

Shi, Yu-heng; Shi, Guo-chao; Wan, Huan-ying; Jiang, Li-hua; Ai, Xiang-yan; Zhu, Hai-xing; Tang, Wei; Ma, Jia-yun; Jin, Xiao-yan; Zhang, Bo-ying

2011-07-05

Recent recognition is that Th2 response is insufficient to fully explain the aetiology of asthma. Other CD4(+) T cells subsets might play a role in asthma. We investigated the relative abundance and activities of Th1, Th2, Th17 and CD4(+)CD25(+) Treg cells in patients with allergic asthma. Twenty-two patients with mild asthma, 17 patients with moderate to severe asthma and 20 healthy donors were enrolled. All patients were allergic to house dust mites. Plasma total IgE, pulmonary function and Asthma Control Questionnaire were assessed. The proportions of peripheral blood Th1, Th2, Th17 and CD4(+)CD25(+) Treg cells were determined by flow cytometry. The expression of cytokines in plasma and in the culture supernatant of peripheral blood mononuclear cells was determined by enzyme linked, immunosorbent assay. The frequency of blood Th2 cells and IL-4 levels in plasma and culture supernatant of peripheral blood mononuclear cells were increased in all patients with allergic asthma. The frequency of Th17 cells and the plasma and culture supernatant levels of IL-17 were increased, whereas the frequency of CD4(+)CD25(+) Treg cells and plasma IL-10 levels were decreased in patients with moderate to severe asthma. Dermatophagoides pteronyssinus specific IgE levels were positively correlated with the percentage of blood Th2 cells and plasma IL-4 levels. Forced expiratory volume in the first second was negatively correlated with the frequency of Th17 cells and plasma IL-17 levels, and positively correlated with the frequency of Treg cells. However, mean Asthma Control Questionnaire scores were positively correlated with the frequency of Th17 cells and plasma IL-17 levels, and negatively correlated with the frequency of Treg cells. Imbalances in Th1/Th2 and Th17/Treg were found in patients with allergic asthma. Furthermore, elevated Th17 cell responses, the absence of Tregs and an imbalance in Th17/Treg levels were associated with moderate to severe asthma.

Association between G1733A (rs6152) polymorphism in androgen receptor gene and recurrent spontaneous abortions in Mexican population.

PubMed

Porras-Dorantes, Ángela; Brambila-Tapia, Aniel Jessica Leticia; Lazcano-Castellanos, Alma Benita; Da Silva-José, Thiago Donizete; Juárez-Osuna, Jesús Alejandro; García-Ortiz, José Elías

2017-10-01

Recurrent spontaneous abortion (RSA) is a multifactorial condition that occurs with a frequency of 0.2-5% in women of reproductive age. Among genetic factors, the single nucleotide polymorphism (SNP) G1733A in the androgen receptor (AR) gene has been associated with its presence in Greek and Iranian populations. Therefore, the aim of this study is to determine its possible association with RSA in this population. A total of 156 Mexican RSA (with at least 2 consecutive abortions) unrelated patients and 152 unrelated healthy women were included, the presence of karyotype anomalies in the parents as well as uterine anomalies as well as antiphospholipid antibodies was excluded in patients; while all the controls presented at least two healthy pregnancies and no abortion. In all the included women, the presence of the SNP G1733A was determined by restriction fragment length polymorphism (RFLP) technique. No significant differences were observed in age between groups. The genotype GG, GA, and AA had a frequency of 0.70, 0.27, and 0.03 in controls and of 0.89, 0.10, and 0.01 in patients (p < 0.001); while the A allele frequency was of 0.06 and 0.16 in controls and patients, respectively (p < 0.0001). The difference in allele frequency increased 10-15% when patients with primary RSA (with no live births) and with at least three abortions were included. The SNP G1733A of the AR gene is significantly associated with RSA in Mexican patients. These results coincide with previous reports in other populations.

Cardiovascular autonomic function in Cushing's syndrome.

PubMed

Fallo, F; Maffei, P; Dalla Pozza, A; Carli, M; Della Mea, P; Lupia, M; Rabbia, F; Sonino, N

2009-01-01

Cardiac autonomic dysfunction is associated with increased cardiovascular mortality. No data on sympathovagal balance are available in patients with Cushing's syndrome, in whom cardiovascular risk is high. We studied 10 patients with newly diagnosed Cushing's syndrome (1 male/9 females; age mean+/-SD, 47+/-10 yr) and 10 control subjects matched for age, sex, body mass index, and cardiovascular risk factors. In both groups there were 7 patients with arterial hypertension, 3 with diabetes mellitus, and 2 with obesity. Cardiac autonomic function was evaluated by analysis of short time heart rate variability (HRV) measures in frequency domain over 24-h, daytime, and nighttime. The 24-h ambulatory blood pressure monitoring and echocardiography were also performed. In comparison with controls, patients with Cushing's syndrome had lower 24-h (1.3+/-0.6 vs 3.7+/-1.5, mean+/-SD, p<0.01), daytime (2.0+/-1.4 vs 4.5+/-1.6, p<0.01), and night-time (1.0+/-0.4 vs 3.5+/-2.3, p<0.01) low-frequency/ high frequency (LF/HF) power ratio. In the presence of similar LF power, the difference was due to elevation in HF power in Cushing's syndrome compared to controls: 24-h, 12.7+/-6.7 vs 5.8+/-2.8, p<0.01; daytime, 10.2+/-7.3 vs 4.5+/-2.1, p<0.05; nighttime, 14.2+/-7.0 vs 7.8+/-4.7, p<0.05. Eight Cushing patients vs 4 controls had a non-dipping blood pressure profile. At echocardiography, Cushing patients had a greater left ventricular mass index and/or relative wall thickness, and impaired diastolic function, compared with controls. Compared to controls, patients with Cushing's syndrome showed a sympathovagal imbalance, characterized by a relatively increased parasympathetic activity. Whether this autonomic alteration is meant to counterbalance cortisol-induced effects on blood pressure and cardiac structure/function or has a different pathophysiological significance is still unknown.

Abnormal resting-state cortical coupling in chronic tinnitus

PubMed Central

Schlee, Winfried; Hartmann, Thomas; Langguth, Berthold; Weisz, Nathan

2009-01-01

Background Subjective tinnitus is characterized by an auditory phantom perception in the absence of any physical sound source. Consequently, in a quiet environment, tinnitus patients differ from control participants because they constantly perceive a sound whereas controls do not. We hypothesized that this difference is expressed by differential activation of distributed cortical networks. Results The analysis was based on a sample of 41 participants: 21 patients with chronic tinnitus and 20 healthy control participants. To investigate the architecture of these networks, we used phase locking analysis in the 1–90 Hz frequency range of a minute of resting-state MEG recording. We found: 1) For tinnitus patients: A significant decrease of inter-areal coupling in the alpha (9–12 Hz) band and an increase of inter-areal coupling in the 48–54 Hz gamma frequency range relative to the control group. 2) For both groups: an inverse relationship (r = -.71) of the alpha and gamma network coupling. 3) A discrimination of 83% between the patient and the control group based on the alpha and gamma networks. 4) An effect of manifestation on the distribution of the gamma network: In patients with a tinnitus history of less than 4 years, the left temporal cortex was predominant in the gamma network whereas in patients with tinnitus duration of more than 4 years, the gamma network was more widely distributed including more frontal and parietal regions. Conclusion In the here presented data set we found strong support for an alteration of long-range coupling in tinnitus. Long-range coupling in the alpha frequency band was decreased for tinnitus patients while long-range gamma coupling was increased. These changes discriminate well between tinnitus and control participants. We propose a tinnitus model that integrates this finding in the current knowledge about tinnitus. Furthermore we discuss the impact of this finding to tinnitus therapies using Transcranial Magnetic Stimulation (TMS). PMID:19228390

Electroencephalographic prodromal markers of dementia across conscious states in Parkinson’s disease

PubMed Central

Latreille, Véronique; Gaudet-Fex, Benjamin; Rodrigues-Brazète, Jessica; Panisset, Michel; Chouinard, Sylvain; Postuma, Ronald B.

2016-01-01

Abstract In Parkinson’s disease, electroencephalographic abnormalities during wakefulness and non-rapid eye movement sleep (spindles) were found to be predictive biomarkers of dementia. Because rapid eye movement sleep is regulated by the cholinergic system, which shows early degeneration in Parkinson’s disease with cognitive impairment, anomalies during this sleep stage might mirror dementia development. In this prospective study, we examined baseline electroencephalographic absolute spectral power across three states of consciousness (non-rapid eye movement sleep, rapid eye movement sleep, and wakefulness) in 68 non-demented patients with Parkinson’s disease and 44 healthy controls. All participants underwent baseline polysomnographic recordings and a comprehensive neuropsychological assessment. Power spectral analyses were performed on standard frequency bands. Dominant occipital frequency during wakefulness and ratios of slow-to-fast frequencies during rapid eye movement sleep and wakefulness were also computed. At follow-up (an average 4.5 years after baseline), 18 patients with Parkinson’s disease had developed dementia and 50 patients remained dementia-free. In rapid eye movement sleep, patients with Parkinson’s disease who later developed dementia showed, at baseline, higher absolute power in delta and theta bands and a higher slowing ratio, especially in temporal, parietal, and occipital regions, compared to patients who remained dementia-free and controls. In non-rapid eye movement sleep, lower baseline sigma power in parietal cortical regions also predicted development of dementia. During wakefulness, patients with Parkinson’s disease who later developed dementia showed lower dominant occipital frequency as well as higher delta and slowing ratio compared to patients who remained dementia-free and controls. At baseline, higher slowing ratios in temporo-occipital regions during rapid eye movement sleep were associated with poor performance on visuospatial tests in patients with Parkinson’s disease. Using receiver operating characteristic curves, we found that best predictors of dementia in Parkinson’s disease were rapid eye movement sleep slowing ratios in posterior regions, wakefulness slowing ratios in temporal areas, and lower dominant occipital frequency. These results suggest that electroencephalographic slowing during sleep is a new promising predictive biomarker for Parkinson’s disease dementia, perhaps as a marker of cholinergic denervation. PMID:26912643

Disease Control Among Patients With Diabetes and Severe Depressive Symptoms.

PubMed

Werremeyer, Amy; Maack, Brody; Strand, Mark A; Barnacle, Mykell; Petry, Natasha

2016-04-01

Major depressive disorder and type 2 diabetes commonly co-occur and disease control tends to be poorer when both conditions are present. However, little research has examined the disease characteristics of patients with diabetes and more severe depressive symptoms. We report a retrospective observational study of 517 patients with diabetes from 2 primary care centers. Patients with diabetes and moderately-severe/severe depression symptoms (Patient Health Questionnaire [PHQ-9] score >15) were compared with patients with diabetes without moderate or severe depression symptoms (PHQ-9 score <15; the comparison group) with regard to control of diabetes, blood pressure, and lipid parameters. Frequency of HbA1c and PHQ-9 testing were also examined. Patients with diabetes and moderately severe/severe depressive symptoms had higher HbA1c (7.56% vs. 7.09%), diastolic blood pressure (78.43 vs. 75.67 mm Hg), and low-density lipoprotein cholesterol (109.12 vs. 94.22 mg/dL) versus the comparison group. Patients with diabetes and moderately-severe/severe depression underwent HbA1c and PHQ-9 testing with similar frequency to the comparison group. The presence of moderately severe/severe depressive symptoms was associated with poorer glucose, lipid, and blood pressure control among patients with diabetes. Further research should prospectively examine whether a targeted depression treatment goal (PHQ-9 score <15) in patients with diabetes results in improved control of these important disease parameters. © The Author(s) 2016.

Assessment of the frequency of regulatory T cells (CD4+CD25+CD127-) in children with hemophilia A: relation to factor VIII inhibitors and disease severity.

PubMed

El-Asrar, Mohamed Abo; Hamed, Ahmed El-Saeed; Darwish, Yasser Wagih; Ismail, Eman Abdel Rahman; Ismail, Noha Ali

2016-01-01

A rapidly growing evidence showed that regulatory T cells (Tregs) play a crucial role in tolerance to coagulation factors and may be involved in the pathogenesis of inhibitor formation in patients with hemophilia. We determined the percentage of Tregs (CD4CD25CD127) in 45 children with hemophilia A compared with 45 healthy controls, and assessed their relation to the clinical characteristics of patients and factor VIII (FVIII) inhibitors. Patients were studied stressing on frequency of bleeding attacks, joint pain, history of viral hepatitis, and the received therapy (FVIII precipitate/cryotherapy). FVIII activity and FVIII inhibitors were assessed with flow cytometric analysis of CD4CD25CD127 Tregs. According to residual FVIII activity levels, 30 patients (66.7%) had mild/moderate hemophilia A, whereas 15 (33.3%) patients had severe hemophilia A. The frequency of Tregs was significantly lower among all patients with hemophilia A compared with controls (2.59 ± 1.1 versus 3.73 ± 1.12%; P = 0.002). Tregs were significantly decreased among patients with FVIII inhibitors compared with the inhibitor-negative group (P < 0.001). Patients with hematuria or severe hemophilia A had lower Tregs levels than those without (P = 0.34 and P = 0.011, respectively). A significant positive correlation was found between the percentage of Tregs and FVIII among hemophilia A patients. ROC curve analysis revealed that the cut-off value of Tregs at 1.91% could differentiate patients with and without FVIII inhibitors, with a sensitivity of 100% and a specificity of 91.3%. We suggest that alteration in the frequency of Tregs in young patients with hemophilia A may contribute to inhibitor formation and disease severity.

Automatic auditory processing deficits in schizophrenia and clinical high-risk patients: forecasting psychosis risk with mismatch negativity.

PubMed

Perez, Veronica B; Woods, Scott W; Roach, Brian J; Ford, Judith M; McGlashan, Thomas H; Srihari, Vinod H; Mathalon, Daniel H

2014-03-15

Only about one third of patients at high risk for psychosis based on current clinical criteria convert to a psychotic disorder within a 2.5-year follow-up period. Targeting clinical high-risk (CHR) individuals for preventive interventions could expose many to unnecessary treatments, underscoring the need to enhance predictive accuracy with nonclinical measures. Candidate measures include event-related potential components with established sensitivity to schizophrenia. Here, we examined the mismatch negativity (MMN) component of the event-related potential elicited automatically by auditory deviance in CHR and early illness schizophrenia (ESZ) patients. We also examined whether MMN predicted subsequent conversion to psychosis in CHR patients. Mismatch negativity to auditory deviants (duration, frequency, and duration + frequency double deviant) was assessed in 44 healthy control subjects, 19 ESZ, and 38 CHR patients. Within CHR patients, 15 converters to psychosis were compared with 16 nonconverters with at least 12 months of clinical follow-up. Hierarchical Cox regression examined the ability of MMN to predict time to psychosis onset in CHR patients. Irrespective of deviant type, MMN was significantly reduced in ESZ and CHR patients relative to healthy control subjects and in CHR converters relative to nonconverters. Mismatch negativity did not significantly differentiate ESZ and CHR patients. The duration + frequency double deviant MMN, but not the single deviant MMNs, significantly predicted the time to psychosis onset in CHR patients. Neurophysiological mechanisms underlying automatic processing of auditory deviance, as reflected by the duration + frequency double deviant MMN, are compromised before psychosis onset and can enhance the prediction of psychosis risk among CHR patients. Copyright © 2014 Society of Biological Psychiatry. Published by Elsevier Inc. All rights reserved.

Distribution of HLA-A, -B and -DRB1 alleles in patients with sudden sensorineural hearing loss.

PubMed

Yeo, S W; Chang, K H; Suh, B D; Kim, T G; Han, H

2000-09-01

This study was performed to investigate the association between human leukocyte antigen (HLA) and susceptibility to sudden sensorineural hearing loss in the Korean population. HLA-A and HLA-B typing using a standard microlymphocytotoxicity technique and HLA-DRB1 genotyping were performed in 35 patients with sudden sensorineural hearing loss and in 206 healthy controls. Prednisone (usual dose 60 mg/day) was administered for 6 days and tapered for an additional 4-6 days. Both initial hearing levels at the onset of deafness and final hearing levels after treatment were examined and evaluated for association with HLA alleles. The frequency of HLA-DRB1*14 was increased in patients with sudden sensorineural hearing loss compared with controls (relative risk [RR] = 2.7, p = 0.016). The frequencies of HLA-A2, -A31, -B52, -B61, -DRB1*04, -DRB1*11 and -DRB1*12 were slightly higher than in the controls, but did not reach statistical significance. When an association between the treatment results and HLA alleles was also evaluated, the frequency of HLA-DRB1*04 was found to be increased in the patients who did not respond to steroid treatment compared with both patients who responded well to steroid (50%, vs 16%, p = 0.034) and controls (RR = 3.0, p = 0.046). These results suggest that there is an association between HLA-DRB1*14 and disease susceptibility and that the presence of HLA-DRB1*04 may be an useful marker for predicting a poor prognosis in Korean patients with sudden sensorineural hearing loss.

Heart rate dynamics before spontaneous onset of ventricular fibrillation in patients with healed myocardial infarcts

NASA Technical Reports Server (NTRS)

Makikallio, T. H.; Koistinen, J.; Jordaens, L.; Tulppo, M. P.; Wood, N.; Golosarsky, B.; Peng, C. K.; Goldberger, A. L.; Huikuri, H. V.

1999-01-01

The traditional methods of analyzing heart rate (HR) variability have failed to predict imminent ventricular fibrillation (VF). We sought to determine whether new methods of analyzing RR interval variability based on nonlinear dynamics and fractal analysis may help to detect subtle abnormalities in RR interval behavior before the onset of life-threatening arrhythmias. RR interval dynamics were analyzed from 24-hour Holter recordings of 15 patients who experienced VF during electrocardiographic recording. Thirty patients without spontaneous or inducible arrhythmia events served as a control group in this retrospective case control study. Conventional time- and frequency-domain measurements, the short-term fractal scaling exponent (alpha) obtained by detrended fluctuation analysis, and the slope (beta) of the power-law regression line (log power - log frequency, 10(-4)-10(-2) Hz) of RR interval dynamics were determined. The short-term correlation exponent alpha of RR intervals (0.64 +/- 0.19 vs 1.05 +/- 0.12; p <0.001) and the power-law slope beta (-1.63 +/- 0.28 vs -1.31 +/- 0.20, p <0.001) were lower in the patients before the onset of VF than in the control patients, but the SD and the low-frequency spectral components of RR intervals did not differ between the groups. The short-term scaling exponent performed better than any other measurement of HR variability in differentiating between the patients with VF and controls. Altered fractal correlation properties of HR behavior precede the spontaneous onset of VF. Dynamic analysis methods of analyzing RR intervals may help to identify abnormalities in HR behavior before VF.

Investigation of ABCA1 C69T polymorphism in patients with type 2 diabetes mellitus.

PubMed

Ergen, H Arzu; Zeybek, Umit; Gök, Ozlem; Karaali, Z Ermis

2012-01-01

Non insulin dependent diabetes mellitus is the most common type of diabetes. Genetic factors, lipid profiles, hypertension are potential risk factors for diabetes mellitus. Adenosine binding cassette transporter proteins 1 (ABCA1) plays a role in cholesterol metabolism, especially high density lipoprotein (HDL-cholesterol). There are multiple mechanisms by which HDL-cholesterol can be atheroprotective, it is clear that the relative activity of ABCA1 plays a major role. We aimed to investigate association of ABCA1 C69T gene polymorphism with lipid levels in Turkish type 2 diabetic patients. After isolation of DNA by ethanol precipitation we determined ABCA1 gene polymorphism by using polimerase chain reaction--restriction fragment lenght polymorphism (PCR-RFLP) method in 107 type 2 diabetic patients and 50 healthy controls. We have observed that the frequency of TT genotype is significantly higher in healthy controls compared to patients (14% vs. 3%; P = 0.008). Also frequency of T allele was higher in controls than in patients (34% vs. 21%; P = 0.020; OR (95% CI) = 0.52 (0.30-0.88)). There was no association of lipid levels and ABCA1 C69T polymorphism subgroups. We have found significantly higher frequency of both T allele and genotype in control group when compared to patients that made us think that T allele may be a protective factor against diabetes mellitus. But, we could not find a relationship between genotypes and lipid concentrations in our two groups. Larger studies will help us to understand the relationship between ABCA1 C69T genotype and lipid parameters in diabetes mellitus.

Defective circulating CD25 regulatory T cells in patients with chronic immune thrombocytopenic purpura

PubMed Central

Yu, Jin; Heck, Susanne; Patel, Vivek; Levan, Jared; Yu, Yu; Bussel, James B.

2008-01-01

Immune thrombocytopenic purpura (ITP) is characterized by the presence of antiplatelet autoantibodies as a result of loss of tolerance. CD4+CD25+ regulatory T cells (Tregs) are important for maintenance of peripheral tolerance. Decreased levels of peripheral Tregs in patients with ITP have been reported. To test whether inefficient production or reduced immunosuppressive activity of Tregs contributes to loss of tolerance in patients with chronic ITP, we investigated the frequency and function of their circulating CD4+CD25hi Tregs. We found a com-parable frequency of circulating CD4+CD25hiFoxp3+ Tregs in patients and controls (n = 16, P > .05). However, sorted CD4+CD25hi cells from patients with chronic ITP (n = 13) had a 2-fold reduction of in vitro immunosuppressive activity compared with controls (n = 10, P < .05). The impaired suppression was specific to Tregs as shown by cross-mixing experiments with T cells from controls. These data suggest that functional defects in Tregs contribute to breakdown of self-tolerance in patients with chronic ITP. PMID:18420827

Seizure Control in a Computational Model Using a Reinforcement Learning Stimulation Paradigm.

PubMed

Nagaraj, Vivek; Lamperski, Andrew; Netoff, Theoden I

2017-11-01

Neuromodulation technologies such as vagus nerve stimulation and deep brain stimulation, have shown some efficacy in controlling seizures in medically intractable patients. However, inherent patient-to-patient variability of seizure disorders leads to a wide range of therapeutic efficacy. A patient specific approach to determining stimulation parameters may lead to increased therapeutic efficacy while minimizing stimulation energy and side effects. This paper presents a reinforcement learning algorithm that optimizes stimulation frequency for controlling seizures with minimum stimulation energy. We apply our method to a computational model called the epileptor. The epileptor model simulates inter-ictal and ictal local field potential data. In order to apply reinforcement learning to the Epileptor, we introduce a specialized reward function and state-space discretization. With the reward function and discretization fixed, we test the effectiveness of the temporal difference reinforcement learning algorithm (TD(0)). For periodic pulsatile stimulation, we derive a relation that describes, for any stimulation frequency, the minimal pulse amplitude required to suppress seizures. The TD(0) algorithm is able to identify parameters that control seizures quickly. Additionally, our results show that the TD(0) algorithm refines the stimulation frequency to minimize stimulation energy thereby converging to optimal parameters reliably. An advantage of the TD(0) algorithm is that it is adaptive so that the parameters necessary to control the seizures can change over time. We show that the algorithm can converge on the optimal solution in simulation with slow and fast inter-seizure intervals.

Death-associated protein kinase promoter methylation correlates with clinicopathological and prognostic features in nonsmall cell lung cancer patients: A cohort study.

PubMed

Yang, Xiao-Yu; Zhang, Jun; Yu, Xiao-Ling; Zheng, Guo-Feng; Zhao, Fei; Jia, Xiao-Jing

2018-01-01

The objective was to study the correlation between death-associated protein kinase (DAPK) promoter methylation and the clinicopathological and prognostic features in nonsmall cell lung cancer (NSCLC) patients. A total of 117 NSCLC patients were recruited into our study between December 2012 and December 2014. Methylation-specific polymerase chain reaction was employed to detect the methylation status of DAPK in cancer tissues, peficancerous tissues, and serum samples of 117 NSCLC patients. In addition, serum samples of 115 healthy subjects were analyzed as controls. A literature search of English and Chinese databases, based on predefined criteria, identified published studies closely related to this study. Data were extracted, and meta-analysis was performed using STATA 12.0 software (STATA Corporation, College Station, TX, USA). Our study results showed that DAPK promoter methylation frequency was significantly higher in NSCLC tissues compared to peficancerous normal tissues (58.1% vs. 12.8%, χ 2 = 52.45, P < 0.001). When serum samples were compared, DAPK methylation frequency in NSCLC patients was higher than the control group (27.4% vs. 0, χ 2 = 37.07, P < 0.001). Our meta-analysis results demonstrated that DAPK methylation frequency was lower in tumor node metastasis (TNM) stage I-II compared to TNM stage III-IV (relative risk [RR] =0.87, 95% confidence interval [CI] =0.76-0.99, P = 0.041). DAPK promoter methylation frequency in NSCLC patients with lymph node metastasis was significantly higher compared to the patients with no metastases (RR = 1.26, 95% CI = 1.04-1.52, P = 0.020). Finally, the 5-year survival rate was lower in NSCLC patient group with high frequency of DAPK methylation, compared to the patient group with unmethylated DAPK (RR = 0.71, 95% CI = 0.56-0.89, P = 0.004). Our results showed that DAPK promoter methylation is tightly correlated with clinicopathological features of NSCLC and is associated with poor prognosis in patients.

Angiotensin-converting enzyme gene polymorphism in arrhythmogenic right ventricular dysplasia: is DD genotype helpful in predicting syncope risk?

PubMed

Ozben, Beste; Altun, Ibrahim; Sabri Hancer, Veysel; Bilge, Ahmet Kaya; Tanrikulu, Azra Meryem; Diz-Kucukkaya, Reyhan; Fak, Ali Serdar; Yilmaz, Ercument; Adalet, Kamil

2008-12-01

Arrhythmogenic right ventricular dysplasia (ARVD) is a heritable disorder characterised by fibrofatty replacement of right ventricular myocytes and increased risk of ventricular arrhythmias and sudden cardiac death. Angiotensin-converting enzyme (ACE) gene insertion/deletion (I/D) polymorphism affects myocardial ACE levels. DD genotype favours myocardial fibrosis and is associated with malignant ventricular tachycardia. The aim of this study was to explore ACE gene polymorphism in ARVD patients. Twenty-nine patients with ARVD and 24 controls were included. All ARVD patients had documented sustained ventricular tachycardia. Thirteen patients had syncopal episodes. Six patients were resuscitated from sudden cardiac death. ACE gene polymorphism was identified by polymerase chain reaction technique. There was no significant difference in DD genotype frequency between ARVD patients and controls (44.8% vs. 45.8%, p=0.94). However, DD genotype frequency was significantly higher in ARVD patients with syncopal episodes compared to those without syncope (69.2% vs. 25.0%, p=0.017, odds ratio:6.750, 95% confidence interval: 1.318-34.565). DD genotype was detected in higher frequency also in patients with a family history of sudden cardiac death (66.7% vs. 39.1%,p=0.36). High prevalence of DD genotype in ARVD patients with syncope suggests that ACE I/D polymorphism might be useful in identifying high-risk patients for syncope.

Retrospective analysis of the efficacy and tolerability of levetiracetam in brain tumor patients.

PubMed

Newton, Herbert B; Goldlust, Samuel A; Pearl, Dennis

2006-05-01

Seizures are a common complication of primary (PBT) and metastatic (MBT) brain tumors, affecting approximately 50% of all patients during the course of their illness. Anti-convulsant therapy of these tumor-induced seizures is often inadequate with conventional anti-epileptic drugs (AEDs), due to a variety of factors, including activation of glutaminergic NMDA receptors, immune-mediated neuronal damage, and anatomic alterations of neuronal input pathways. Levetiracetam (LEV) is a new AED with a novel mechanism of action, which includes reducing the Ca++ current through neuron-specific, high voltage activated Ca++ channels (n-type). Because of this unique mechanism, it has been postulated that LEV may be effective in controlling tumor-induced seizures. A retrospective chart review was performed of all patients who had received LEV for seizure control. Forty-one patients were reviewed (22 female, 19 male), with a median age of 47.5 years (range 25-81). There were 34 patients with PBT and 7 with MBT. LEV was used as an add-on AED in 33 patients and as monotherapy in eight patients, with a median dose of 1500 mg/day (range 500-3500). The baseline median seizure frequency for the cohort was 1 per week. After the addition of LEV and follow-up for a minimum of 4 weeks, the median seizure frequency was reduced to 0 per week (59% of patients noted complete seizure control). Overall, the seizure frequency was reduced in 90% of patients (P<0.0001; Sign test). The most common toxicity was somnolence, noted in 37% of patients. LEV was very effective and well tolerated in brain tumor patients with seizures, and should be considered for add-on therapy to current AEDs, or as a substitute anti-convulsant for monotherapy.

[C677T-SNP of methylenetetrahydrofolate reductase gene and breast cancer in Mexican women].

PubMed

Calderón-Garcidueñas, Ana Laura; Cerda-Flores, Ricardo Martín; Castruita-Ávila, Ana Lilia; González-Guerrero, Juan Francisco; Barrera-Saldaña, Hugo Alberto

2017-01-01

Low-penetrance susceptibility genes such as 5,10-methylenetetrahydrofolate reductase gene (MTHFR) have been considered in the progression of breast cancer (BC). Cancer is a result of genetic, environmental and epigenetic interactions; therefore, these genes should be studied in environmental context, because the results can vary between populations and even within the same country. The objective was to analyze the allelic and genotypic frequencies of the MTHFR C667T SNP in Mexican Mestizo patients with BC and controls from Northeastern Mexico. 243 patients and 118 healthy women were studied. The analysis of the polymorphism was performed with a DNA microarray. Once the frequency of the polymorphism was obtained, Hardy-Weinberg equilibrium test was carried out for the genotypes. Chi square test was used to compare the distribution of frequencies. The allele frequency in patients was: C = 0.5406; T = 0.4594 and in controls C = 0.5678, T = 0.4322. Genotype in BC patients was: C / C = 29.9%, C / T = 48.3% and T / T = 21.8. The distribution in controls was: C / C = 31.4%, C / T = 50.8%, T / T = 17.8% (chi squared 0.77, p = 0.6801). Northeastern Mexican women in this study showed no association between MTFHR C667T SNP and the risk of BC. It seems that the contribution of this polymorphism to BC in Mexico varies depending on various factors, both genetic and environmental.

Anismus: a marker of multi-site functional disorders?

PubMed

Bouchoucha, Michel; Devroede, Ghislain; Arsac, Michel

2004-07-01

This study was undertaken to assess the clinical significance of anismus in patients who complain of constipation. Thirty control subjects and 93 consecutive patients complaining of functional constipation took part in the study. Colonic transit time study and anorectal manometry were performed. Questions about depression and urinary and sexual diseases were added to a questionnaire based on the Rome II criteria, and visual analog scales about four items (constipation, diarrhoea, abdominal bloating and abdominal pain). Constipated patients have lower threshold sensation volume, lower constant sensation volume, and lower maximum tolerable volume than controls. Thirty-seven patients (40%) were found to have anismus, based on anorectal manometry. No significant difference was found between constipated patients with anismus and constipated patients without anismus, using anorectal manometry. Constipated patients had longer colorectal transit time than controls, but neither total nor segmental colonic transit time was correlated with the presence or absence of anismus. In patients with anismus, a higher frequency of oesophageal symptoms, dysmotility-like dyspepsia, aerophagia, functional bowel disorders, functional abdominal pain, soiling, and dyschezia was found. In addition, a higher frequency of urinary complaints, sexual complaints, and depression was found. Anismus was associated with increased awareness of constipation, abdominal bloating, and abdominal pain, but not with diarrhoea.

[Gene polymorphisms in patients with Down's syndrome].

PubMed

Kuz'mina, N S; Ushenkova, L I; Shagirova, Zh M; Sheĭkhaev, G O; Mikhaĭlov, V F; Kurbatova, L A; Mazurik, V K; Rubanovich, A V; Zasukhina, G D

2009-01-01

Polymorphisms of glutation-S-transferase (GSTM1, GSTT1 GSTP1) and methylentetrahydrofolate reductase (MTHFR) genes have been studied in DNA from blood lymphocytes of 18 patients with Down's syndrome and 61 controls. Frequencies of normal alleles of GST genotypes were lower in patients as compared to the controls. A DNA analysis of 11 patients and 17 controls revealed the presence of mutations in region 246-250 of exon 7 of the p53 gene in 4 patients. Mutations were not found in the control group. Due to the small sample size, the results of this study should be interpreted with caution and need replication in larger studies.

Increased frequency of Epstein-Barr virus excretion in patients with new daily persistent headaches.

PubMed

Diaz-Mitoma, F; Vanast, W J; Tyrrell, D L

1987-02-21

In a case-control study 27 (84%) of 32 patients with new daily persistent headaches (NDPH) and 8 (25%) of 32 controls had evidence of Epstein-Barr virus (EBV) "active" infection, as demonstrated by EBV excretion and/or early antigen titre above 1:32. 20 (62%) patients and 4 (12%) controls were excreting EBV in the oropharynx, as determined by a dot hybridisation assay. The mean titre of IgG antibodies to early antigen was significantly higher in patients than controls. EBV reactivation may be important in the pathogenesis of NDPH. Alternatively, patients with NDPH may be unusually prone to EBV reactivation.

Flow cytometry analysis of T-cell subsets in cerebrospinal fluid of narcolepsy type 1 patients with long-lasting disease.

PubMed

Moresco, Monica; Lecciso, Mariangela; Ocadlikova, Darina; Filardi, Marco; Melzi, Silvia; Kornum, Birgitte Rahbek; Antelmi, Elena; Pizza, Fabio; Mignot, Emmanuel; Curti, Antonio; Plazzi, Giuseppe

2018-04-01

Type 1 narcolepsy (NT1) is a central hypersomnia linked to the destruction of hypocretin-producing neurons. A great body of genetic and epidemiological data points to likely autoimmune disease aetiology. Recent reports have characterized peripheral blood T-cell subsets in NT1, whereas data regarding the cerebrospinal fluid (CSF) immune cell composition are lacking. The current study aimed to characterize the T-cell and natural killer (NK) cell subsets in NT1 patients with long disease course. Immune cell subsets from CSF and peripheral blood mononuclear cell (PBMC) samples were analysed by flow cytometry in two age-balanced and sex-balanced groups of 14 NT1 patients versus 14 healthy controls. The frequency of CSF cell groups was compared with PBMCs. Non-parametric tests were used for statistical analyses. The NT1 patients did not show significant differences of CSF immune cell subsets compared to controls, despite a trend towards higher CD4 + terminally differentiated effector memory T cells. T cells preferentially displayed a memory phenotype in the CSF compared to PBMCs. Furthermore, a reduced frequency of CD4 + terminally differentiated effector memory T cells and an increased frequency of NK CD56 bright cells was observed in PBMCs from patients compared to controls. Finally, the ratio between CSF and peripheral CD4 + terminally differentiated effector memory T cells was two-fold increased in NT1 patients versus controls. Significant differences in PBMCs and in CSF/PBMC ratios of immune cell profile were found in NT1 patients compared to healthy controls. These differences might have arisen from the different HLA status, or be primary or secondary to hypocretin deficiency. Further functional studies in patients close to disease onset are required to understand NT1 pathophysiology. Copyright © 2017 Elsevier B.V. All rights reserved.

[Interventional effects of different management programs on the outcomes of stable chronic obstructive pulmonary disease patients].

PubMed

Zhang, Rong-bao; Tan, Xing-yu; He, Quan-ying; Chen, Qing; Gai, Jun; Wei, Jing-an; Wang, Yan

2012-11-27

To evaluate the interventional effects of different management programs on the outcomes of stable chronic obstructive pulmonary disease (COPD) patients. Systemic education, follow-up and control groups were divided according to the frequency of follow-ups and the profile of participating in education. A total of 157 patients were enrolled into the COPD database from May 2002 to May 2010. They were interviewed face-to-face at our department. The investigation contained general conditions, the frequency of acute exacerbations (AE) the previous year, COPD Assessment Test (CAT), Modified British Medical Research Council Dyspnea Scale (mMRC) and spirometric classification. A combined assessment was conducted. The frequency of AE and rate of AE < once the previous year in systemic education group was 0.9 ± 1.1 and 71.2%, 1.0 ± 0.8 and 68.6% in follow-up group and 1.4 ± 1.1 and 44.4% in control group. And the frequency of AE in systemic education and follow-up groups was significantly less than that in control group (P < 0.05). Rate of AE < once in systemic education and follow-up groups was significantly higher than that in control group (P < 0.01). CAT and rate of CAT ≤ 20 in systemic education, follow-up and control groups were 10.0 ± 5.0 and 96.2%, 11.1 ± 6.0 and 88.2%, 15.3 ± 6.8 and 64.8% respectively. CAT in systemic education and follow-up groups was significantly lower than that in control group (P < 0.01). Rate of CAT ≤ 20 in systemic education and follow-up groups was significantly higher than that in control group (P < 0.01). mMRC in systemic education, follow-up and control groups was 1.5 ± 0.8, 1.6 ± 0.9 and 2.1 ± 1.0 respectively. mMRC in systemic education and follow-up groups was significantly lower than that in control group (P < 0.05). Combined assessment showed that no significant difference existed in Types A and B among three groups (P > 0.05). Type C in the systemic education group was significantly higher than that of the control (P < 0.05). Type D in the systemic education and follow-up groups was significantly lower than that of the control (P < 0.01). Long-term systemic education and follow-up management program can reduce the frequency of AE of COPD effectively and improve the health status of COPD patients.

Physiotherapy, and speech and language therapy intervention for patients with refractory chronic cough: a multicentre randomised control trial.

PubMed

Chamberlain Mitchell, Sarah A F; Garrod, Rachel; Clark, Lynne; Douiri, Abdel; Parker, Sean M; Ellis, Jenny; Fowler, Stephen J; Ludlow, Siobhan; Hull, James H; Chung, Kian Fan; Lee, Kai K; Bellas, H; Pandyan, Anand; Birring, Surinder S

2017-02-01

Physiotherapy, and speech and language therapy are emerging non-pharmacological treatments for refractory chronic cough. We aimed to investigate the efficacy of a physiotherapy, and speech and language therapy intervention (PSALTI) to improve health-related quality of life (HRQoL) and to reduce cough frequency in patients with refractory chronic cough. In this multicentre randomised controlled trial, patients with refractory chronic cough were randomised to four weekly 1:1 sessions of either PSALTI consisting of education, laryngeal hygiene and hydration, cough suppression techniques, breathing exercises and psychoeducational counselling or control intervention consisting of healthy lifestyle advice. We assessed the change in HRQoL at week 4 with the Leicester Cough Questionnaire (LCQ). Secondary efficacy outcomes included 24-hour objective cough frequency (Leicester Cough Monitor) and cough reflex sensitivity. The primary analysis used an analysis of covariance adjusted for baseline measurements with the intention-to-treat population. This study was registered at UK Clinical Research Network (UKCRN ID 10678). Between December 2011 and April 2014, we randomly assigned 75 participants who underwent baseline assessment (34 PSALTI and 41 controls). In the observed case analysis, HRQoL (LCQ) improved on average by 1.53 (95% CI 0.21 to 2.85) points more in PSALTI group than with control (p=0.024). Cough frequency decreased by 41% (95% CI 36% to 95%) in PSALTI group relative to control (p=0.030). The improvements within the PSALTI group were sustained up to 3 months. There was no significant difference between groups in the concentration of capsaicin causing five or more coughs. Greater improvements in HRQoL and cough frequency were observed with PSALTI intervention. Our findings support the use of PSALTI for patients with refractory chronic cough. UKCRN ID 10678 and ISRCTN 73039760; Results. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/.

Interleukin-1beta gene polymorphisms in Taiwanese patients with gout.

PubMed

Chen, Man-Ling; Huang, Chung-Ming; Tsai, Chang-Hai; Tsai, Fuu-Jen

2005-04-01

The purpose of this study was to examine whether interleukin-1 beta (IL-1beta) promoter and exon 5 gene polymorphisms are markers of susceptibility or clinical manifestations in Taiwanese patients with gout. The study included 196 patients in addition to 103 unrelated healthy control subjects living in central Taiwan. From genomic DNA, polymorphisms of the gene for IL-1beta promoter and IL-1beta exon 5 were typed. Allelic frequencies were compared between the two groups, and the relationship between allelic frequencies and clinical manifestations of gout was evaluated. No significant differences were observed in the allelic frequencies of the IL-1beta promoter between patients with gout and healthy control subjects. Additionally, we did not detect any association of the IL-1beta promoter genotype with the clinical and laboratory profiles of gout patients. However, there was a significant difference between the two groups in terms of hypertriglyceridemia (P=0.0004, chi(2)=12.52, OR 7.14, 95%CI 0.012-0.22). There was also a significant difference in the genotype of IL-1beta exon 5 polymorphism between patients with and without hypertriglyceridemia. Results of the present study suggest that polymorphisms of the IL-1beta promoter and IL-1beta exon 5 are not related to gout patients in central Taiwan.

A Retrospective Study of the Characteristics and Clinical Significance of A-Waves in Amyotrophic Lateral Sclerosis.

PubMed

Fang, Jia; Cui, Liying; Liu, Mingsheng; Guan, Yuzhou; Ding, Qingyun; Shen, Dongchao; Li, Dawei; Tai, Hongfei

2017-01-01

A-wave was observed in patients with motor neuron disease (1). However, data on the characteristics and clinical significance of A-waves in patients with amyotrophic lateral sclerosis (ALS) have been scarce. The F-wave studies of 83 patients with ALS and 63 normal participants which were conducted previously at the Department of Neurology in Peking Union Medical College Hospital were retrospectively reviewed to determine the occurrence of A-waves in ALS. A-waves occurred more frequently in ALS patients than in normal controls. For the median and peroneal nerves, the frequencies of nerves with A-waves and frequencies of patients with A-waves were comparable between the ALS patients and normal controls. For the ulnar and tibial nerves, the frequencies of nerves with A-waves and frequencies of patients with A-waves were significantly increased in the ALS patients compared with those of the normal participants. Disease progression rate was slower in the ALS patients with A-waves (0.73 ± 0.99) than that in the ALS patients without A-waves (0.87 ± 0.55, P  = 0.007). No correlations were found between the amplitudes of F-waves with A-waves and those of A-waves in the ulnar nerves ( r  = 0.423, P  = 0.149). No correlations were found between the persistence of F-waves with A-waves and the persistence of A-waves in the ulnar nerves as well ( r  = 0.219, P  = 0.473). The occurrence of A-waves may indicate dysfunction of lower motor neurons and possibly imply a relatively slower degenerative process.

A Retrospective Study of the Characteristics and Clinical Significance of A-Waves in Amyotrophic Lateral Sclerosis

PubMed Central

Fang, Jia; Cui, Liying; Liu, Mingsheng; Guan, Yuzhou; Ding, Qingyun; Shen, Dongchao; Li, Dawei; Tai, Hongfei

2017-01-01

A-wave was observed in patients with motor neuron disease (1). However, data on the characteristics and clinical significance of A-waves in patients with amyotrophic lateral sclerosis (ALS) have been scarce. The F-wave studies of 83 patients with ALS and 63 normal participants which were conducted previously at the Department of Neurology in Peking Union Medical College Hospital were retrospectively reviewed to determine the occurrence of A-waves in ALS. A-waves occurred more frequently in ALS patients than in normal controls. For the median and peroneal nerves, the frequencies of nerves with A-waves and frequencies of patients with A-waves were comparable between the ALS patients and normal controls. For the ulnar and tibial nerves, the frequencies of nerves with A-waves and frequencies of patients with A-waves were significantly increased in the ALS patients compared with those of the normal participants. Disease progression rate was slower in the ALS patients with A-waves (0.73 ± 0.99) than that in the ALS patients without A-waves (0.87 ± 0.55, P = 0.007). No correlations were found between the amplitudes of F-waves with A-waves and those of A-waves in the ulnar nerves (r = 0.423, P = 0.149). No correlations were found between the persistence of F-waves with A-waves and the persistence of A-waves in the ulnar nerves as well (r = 0.219, P = 0.473). The occurrence of A-waves may indicate dysfunction of lower motor neurons and possibly imply a relatively slower degenerative process. PMID:29033889

LORETA functional imaging in antipsychotic-naive and olanzapine-, clozapine- and risperidone-treated patients with schizophrenia.

PubMed

Tislerova, Barbora; Brunovsky, Martin; Horacek, Jiri; Novak, Tomas; Kopecek, Miloslav; Mohr, Pavel; Krajca, Vladimír

2008-01-01

The aim of our study was to detect changes in the distribution of electrical brain activity in schizophrenic patients who were antipsychotic naive and those who received treatment with clozapine, olanzapine or risperidone. We included 41 subjects with schizophrenia (antipsychotic naive = 11; clozapine = 8; olanzapine = 10; risperidone = 12) and 20 healthy controls. Low-resolution brain electromagnetic tomography was computed from 19-channel electroencephalography for the frequency bands delta, theta, alpha-1, alpha-2, beta-1, beta-2 and beta-3. We compared antipsychotic-naive subjects with healthy controls and medicated patients. (1) Comparing antipsychotic-naive subjects and controls we found a general increase in the slow delta and theta frequencies over the fronto-temporo-occipital cortex, particularly in the temporolimbic structures, an increase in alpha-1 and alpha-2 in the temporal cortex and an increase in beta-1 and beta-2 in the temporo-occipital and posterior limbic structures. (2) Comparing patients who received clozapine and those who were antipsychotic naive, we found an increase in delta and theta frequencies in the anterior cingulate and medial frontal cortex, and a decrease in alpha-1 and beta-2 in the occipital structures. (3) Comparing patients taking olanzapine with those who were antipsychotic naive, there was an increase in theta frequencies in the anterior cingulum, a decrease in alpha-1, beta-2 and beta-3 in the occipital cortex and posterior limbic structures, and a decrease in beta-3 in the frontotemporal cortex and anterior cingulum. (4) In patients taking risperidone, we found no significant changes from those who were antipsychotic naive. Our results in antipsychotic-naive patients are in agreement with existing functional findings. Changes in those taking clozapine and olanzapine versus those who were antipsychotic naive suggest a compensatory mechanism in the neurobiological substrate for schizophrenia. The lack of difference in risperidone patients versus antipsychotic-naive subjects may relate to risperidone's different pharmacodynamic mechanism. Copyright 2008 S. Karger AG, Basel.

Differential effects of sex on substance use between first episode psychosis patients and healthy people.

PubMed

Núñez, Christian; Ochoa, Susana; Huerta-Ramos, Elena; Baños, Iris; Barajas, Ana; Dolz, Montserrat; Sánchez, Bernardo; Del Cacho, Núria; Usall, Judith

2016-08-01

Substance use in psychosis is an important field of study given that it can be a risk factor for the development of psychosis and can give rise to psychotic symptoms. Studies of substance use in first episode psychosis patients do not frequently assess non-pathological substance consumption among patients, but rather the prevalence of substance abuse or dependence disorders. Moreover, most of these studies do not address the effects of sex in sufficient depth, and the consumption of caffeine or tobacco, which are two of the most frequently used substances, is often not assessed. The aim of this study was to compare patterns and quantities of substance use between first episode psychosis patients and healthy controls and between men and women, and explore the potential interactive effects between group (patients or controls) and sex. A total of 158 participants (82 first episode psychosis patients and 76 healthy controls) were included in the study. Both adults and adolescents were included in the study. Frequency and amount of use of caffeine, tobacco, alcohol, cannabis, cocaine, hallucinogens, stimulants, and opiates were gathered. A significant main effect of sex was found for the frequency of use of tobacco (p=.050). Main effects of group were found for the quantity of tobacco (p<.001) and cannabis (p<.001) consumed, as well as main effects of sex for the quantity of alcohol (p=.003) and cannabis (p=.017) consumed. There were also interaction effects between group and sex for the frequency of use of tobacco (p=.005) and cannabis (p=.009), and for the amount of cannabis consumed (p=.049). Qualitative differences between males and females regarding combined substance use are also reported. Among patients, men used tobacco more frequently than women, but this sex difference was not the same for the control group, in which women smoked more often than men. Regarding cannabis, men smoked cannabis more frequently and in larger amounts than women, but only in the patients group, whereas no sex differences for cannabis were found for the controls. Main effects of group and sex for tobacco and alcohol, as well as the lack of differences for the frequency and amount of use of caffeine, are also commented. This is the first study to assess the different effects of sex on substance use in first episode psychosis patients and healthy controls. Copyright © 2016 Elsevier Inc. All rights reserved.

Efficacy and safety of Amla (Phyllanthus emblica L.) in non-erosive reflux disease: a double-blind, randomized, placebo-controlled clinical trial.

PubMed

Karkon Varnosfaderani, Shahnaz; Hashem-Dabaghian, Fataneh; Amin, Gholamreza; Bozorgi, Mahbubeh; Heydarirad, Ghazaleh; Nazem, Esmaeil; Nasiri Toosi, Mohsen; Mosavat, Seyed Hamdollah

2018-03-01

Gastroesophageal reflux disease (GERD) is one of the most common gastrointestinal complaints. GERD, caused by the reflux of stomach contents into the esophagus, leads to troublesome symptoms such as heartburn and regurgitation. It is classified into two types: erosive esophagitis, characterized by visible esophageal mucosa erosion in endoscopy, and non-erosive reflux disease (NERD). GERD is a chronic and recurrent disease that impairs the quality of life and imposes socioeconomic and therapeutic burdens to both patients and society. Due to the failure of the conventional treatments for GERD and to the traditional use of Amla (Phyllanthus emblica L.), in addition to beneficial effects shown in recent studies, we evaluated the safety and efficacy of Amla tablet for improvement of symptoms of patients with NERD. We designed a double-arm, randomized, double-blind, placebo-controlled clinical trial. Sixty-eight patients who had classic symptoms of GERD (heartburn, regurgitation and epigastralgia) for at least three months before the start of the trial were randomized in two parallel groups. Patients in the Amla group received two 500 mg Amla tablets twice a day, after meals, for 4 weeks. In the control group, patients received placebo tablets similar to the Amla prescription. The patients were visited at baseline, and at the end of the 2nd and 4th weeks of intervention; their symptoms were measured on a frequency and severity scale for the symptoms of NERD, according to the quality of life in reflux-associated disease questionnaire. Frequencies of heartburn and regurgitation in both groups of the study were significantly reduced after intervention (P < 0.001). Repeated measures logistic regression analysis showed that, in the Amla group, there was a more significant reduction in regurgitation frequency, heartburn frequency, regurgitation severity and heartburn severity during the study period, compared with the placebo group (P < 0.001). This randomized double-blind, placebo-controlled clinical trial demonstrated that Amla could reduce frequencies of heartburn and regurgitation and improve heartburn and regurgitation severity in patients with NERD. Iranian Registry of Clinical Trials IRCT2016061428469N1. Copyright © 2018 Shanghai Changhai Hospital. Published by Elsevier B.V. All rights reserved.

Restless Legs Syndrome in Patients with Hypertension and Diabetes Mellitus.

PubMed

Sabic, Adela; Sinanovic, Osman; Sabic, Dzevad; Galic, Gordan

2016-04-01

The aim of this study was to analyze frequency of restless legs syndrome (RLS) in patients with hypertension and diabetes mellitus. It was analyzed 120 subjects (from Health Center Živinice/Family Medicine Department) through a survey conducted in the period from March to June 2015, of which 30 (8 men/22 women). Subjects were 30 patients with longtime hypertension (HT)(18 men/12 women), 30 patients with diabetes mellitus (DM) type I or II (9 men/21 women), 30 patients with long standing DM type I or II and HT (12 men /18 women), and 30 control subjects (12 men/18 women). RLS were evaluated by questionnaire - International RLS Study Group Criteria. The average age of patients in the group with HT was 58.70 ± 9.07, in the group with DM 48.43 ± 15.37, and in the group of patients with HT and DM 63.90 ± 7.49 years. In the control group mean age was 52.76 ± 14.83 years. Statistical data were analyzed in Excel and SSPS statistical program. RLS was identified in 10 (30%) of those with HT; 7 (21%) in patients with DM, and 10 (30%) in patients with HT+DM. In the control group RLS was verified in 4 (12%) patients. Comparing the results, it was observed significant difference between the HT and the control group (p=0.0012) and HT+ DM and control group (p=0.0012). The frequency of RLS between DM and the control group was not significantly significant (p=0.107). RLS is frequent in patients with hypertension (30%), hypertension+ diabetes mellitus (30%), and patients with DM (21%).

Colour vision and contrast sensitivity losses of mercury intoxicated industry workers in Brazil.

PubMed

Ventura, D F; Simões, A L; Tomaz, S; Costa, M F; Lago, M; Costa, M T V; Canto-Pereira, L H M; de Souza, J M; Faria, M A M; Silveira, L C L

2005-05-01

We evaluated vision loss in workers from fluorescent lamp industries (n=39) who had retired due to intoxication with mercury vapour and had been away from the work situation for several years (mean=6.32 years). An age-matched control group was submitted to the same tests for comparison. The luminance contrast sensitivity (CSF) was measured psychophysically and with the sweep visual evoked potential (sVEP) method. Chromatic red-green and blue-yellow CSFs were measured psychophysically. Colour discrimination was assessed with the Farnsworth-Munsell 100-hue test, Lanthony D-15d test and Cambridge Colour Vision Test. Patient data showed significantly lower scores in all colour tests compared to controls (p<.001). The behavioural luminance CSF of the patients was lower than that of controls (p<.001 at all frequencies tested). This result was confirmed by the electrophysiologically measured sweep VEP luminance CSF except at the highest frequencies-a difference that might be related to stimulus differences in the two situations. Chromatic CSFs were also statistically significantly lower for the patients than for the controls, for both chromatic equiluminant stimuli: red-green (p<.005) and blue-yellow (p<.04 for all frequencies, except 2 cycles per degree (cpd), the highest spatial frequency tested) spatial gratings. We conclude that exposure to elemental mercury vapour is associated with profound and lasting losses in achromatic and chromatic visual functions, affecting the magno-, parvo- and koniocellular visual pathways.

Olfactory bulb and olfactory sulcus depths are associated with disease duration and attack frequency in multiple sclerosis patients.

PubMed

Tanik, Nermin; Serin, Halil Ibrahim; Celikbilek, Asuman; Inan, Levent Ertugrul; Gundogdu, Fatma

2015-11-15

Multiple sclerosis (MS) is a neuroinflammatory and neurodegenerative disease that progresses to axonal loss and demyelinization. Olfactory dysfunction in patients with MS has been reported frequently. We were interested in the associations of olfactory bulb (OB) and olfactory sulcus depth (OSD) with disease duration and attack frequency. We included 25 patients with MS and 30 age- and sex-matched controls in this study. The Expanded Disability Status Scale, Beck Depression Inventory, and Mini Mental State Examination were applied. OB, OSD, and magnetic resonance imaging plaque numbers were calculated. OB volume and OSD in patients with MS were significantly lower than those in the control group (right and left OB: p<0.001; right OSD: p=0.001; and left OSD: p=0.039). Disease duration was negatively correlated with right and left OB volume (right OB: r=-0.434, p=0.030 and left OB: r=-0.518, p=0.008). Attack frequency was negatively correlated with left OB volume and left OSD (left OB: r=-0.428, p=0.033 and left OSD: r=-0.431, p=0.032). The OB and OSD were atrophied significantly in patients with MS, and this was correlated with disease duration and attack frequency. The left side tended to be dominant. Copyright © 2015 Elsevier B.V. All rights reserved.

Comparison of oxidative stress and the frequency of polymorphisms in the HFE gene between hemoglobin S trait blood donors and sickle cell disease patients.

PubMed

Viana-Baracioli, L M S; Tukamoto Junior, N C; Ricci Junior, O; Mattos, L C; Ângulo, I L; Bonini-Domingos, C R

2011-12-08

It is well documented that Hb S and iron affect blood cells, and trigger oxidative processes and generation of free radicals with potential for lipid peroxidation. We evaluated the frequency of polymorphisms in the HFE gene in Hb AS blood donors and how these polymorphisms influenced lipid peroxidation and antioxidant capacity. Blood samples were collected from 211 Hb AS blood donors, 119 Hb AA blood donors as a control group, and 28 sickle cell disease patients (Hb SS). The H63D allele was found at a frequency of 10.5% in the Hb AS samples, and the C282Y allele frequency was 0.7%. In the control group, the frequencies of the H63D and C282Y alleles were 13.4 and 2.1%, respectively. In the sickle-cell disease patients, the H63D and the C282Y allele frequencies were 10.7 and 3.5%, respectively. The frequencies of the C282Y and H63D polymorphisms in Hb AS blood donors are similar to those reported for the Brazilian population. Serum malondialdehyde values, indicative of lipid peroxidation, were highest in sickle cell patients, independent of the polymorphisms in the HFE gene, with significant differences, showing the influence of Hb S allele in the levels of lipid peroxidation. However, the trolox equivalent antioxidant capacity average levels, indicative of the antioxidant capacity, were reduced with significant differences, indicating that in spite of a lipid peroxidation raise, this is not followed by the increased of the antioxidant capacity, leading to oxidative stress.

Increased Force Variability Is Associated with Altered Modulation of the Motorneuron Pool Activity in Autism Spectrum Disorder (ASD).

PubMed

Wang, Zheng; Kwon, Minhyuk; Mohanty, Suman; Schmitt, Lauren M; White, Stormi P; Christou, Evangelos A; Mosconi, Matthew W

2017-03-25

Force control deficits have been repeatedly documented in autism spectrum disorder (ASD). They are associated with worse social and daily living skill impairments in patients suggesting that developing a more mechanistic understanding of the central and peripheral processes that cause them may help guide the development of treatments that improve multiple outcomes in ASD. The neuromuscular mechanisms underlying force control deficits are not yet understood. Seventeen individuals with ASD and 14 matched healthy controls completed an isometric index finger abduction test at 60% of their maximum voluntary contraction (MVC) during recording of the first dorsal interosseous (FDI) muscle to determine the neuromuscular processes associated with sustained force variability. Central modulation of the motorneuron pool activation of the FDI muscle was evaluated at delta (0-4 Hz), alpha (4-10 Hz), beta (10-35 Hz) and gamma (35-60 Hz) frequency bands. ASD patients showed greater force variability than controls when attempting to maintain a constant force. Relative to controls, patients also showed increased central modulation of the motorneuron pool at beta and gamma bands. For controls, reduced force variability was associated with reduced delta frequency modulation of the motorneuron pool activity of the FDI muscle and increased modulation at beta and gamma bands. In contrast, delta, beta, and gamma frequency oscillations were not associated with force variability in ASD. These findings suggest that alterations of central mechanisms that control motorneuron pool firing may underlie the common and often impairing symptoms of ASD.

A whole genome SNP genotyping by DNA microarray and candidate gene association study for kidney stone disease

PubMed Central

2014-01-01

Background Kidney stone disease (KSD) is a complex disorder with unknown etiology in majority of the patients. Genetic and environmental factors may cause the disease. In the present study, we used DNA microarray to genotype single nucleotide polymorphisms (SNP) and performed candidate gene association analysis to determine genetic variations associated with the disease. Methods A whole genome SNP genotyping by DNA microarray was initially conducted in 101 patients and 105 control subjects. A set of 104 candidate genes reported to be involved in KSD, gathered from public databases and candidate gene association study databases, were evaluated for their variations associated with KSD. Results Altogether 82 SNPs distributed within 22 candidate gene regions showed significant differences in SNP allele frequencies between the patient and control groups (P < 0.05). Of these, 4 genes including BGLAP, AHSG, CD44, and HAO1, encoding osteocalcin, fetuin-A, CD44-molecule and glycolate oxidase 1, respectively, were further assessed for their associations with the disease because they carried high proportion of SNPs with statistical differences of allele frequencies between the patient and control groups within the gene. The total of 26 SNPs showed significant differences of allele frequencies between the patient and control groups and haplotypes associated with disease risk were identified. The SNP rs759330 located 144 bp downstream of BGLAP where it is a predicted microRNA binding site at 3′UTR of PAQR6 – a gene encoding progestin and adipoQ receptor family member VI, was genotyped in 216 patients and 216 control subjects and found to have significant differences in its genotype and allele frequencies (P = 0.0007, OR 2.02 and P = 0.0001, OR 2.02, respectively). Conclusions Our results suggest that these candidate genes are associated with KSD and PAQR6 comes into our view as the most potent candidate since associated SNP rs759330 is located in the miRNA binding site and may affect mRNA expression level. PMID:24886237

Screening for impulse control symptoms in patients with de novo Parkinson disease: a case-control study.

PubMed

Weintraub, Daniel; Papay, Kimberly; Siderowf, Andrew

2013-01-08

To determine the frequency and correlates of impulse control and related behavior symptoms in patients with de novo, untreated Parkinson disease (PD) and healthy controls (HCs). The Parkinson's Progression Markers Initiative is an international, multisite, case-control clinical study conducted at 21 academic movement disorders centers. Participants were recently diagnosed, untreated PD patients (n = 168) and HCs (n = 143). The outcome measures were presence of current impulse control and related behavior symptoms based on recommended cutoff points for the Questionnaire for Impulsive-Compulsive Disorders in Parkinson's Disease (QUIP)-Short Form. There were 311 participants with complete QUIP data. Frequencies of impulse control and related behavior symptoms for patients with PD vs HCs were as follows: gambling (1.2% vs. 0.7%), buying (3.0% vs. 2.1%), sexual behavior (4.2% vs. 3.5%), eating (7.1% vs. 10.5%), punding (4.8% vs. 2.1%), hobbyism (5.4% vs. 11.9%), walkabout (0.6% vs. 0.7%), and any impulse control or related behavior (18.5% vs. 20.3%). In multivariable models, a diagnosis of PD was not associated with symptoms of any impulse control or related behavior (p ≥ 0.10 in all cases). PD itself does not seem to confer an increased risk for development of impulse control or related behavior symptoms, which further reinforces the reported association between PD medications and impulse control disorders in PD. Given that approximately 20% of patients with newly diagnosed PD report some impulse control or related behavior symptoms, long-term follow-up is needed to determine whether such patients are at increased risk for impulse control disorder development once PD medications are initiated.

Unique cortical physiology associated with ipsilateral hand movements and neuroprosthetic implications.

PubMed

Wisneski, Kimberly J; Anderson, Nicholas; Schalk, Gerwin; Smyth, Matt; Moran, Daniel; Leuthardt, Eric C

2008-12-01

Brain computer interfaces (BCIs) offer little direct benefit to patients with hemispheric stroke because current platforms rely on signals derived from the contralateral motor cortex (the same region injured by the stroke). For BCIs to assist hemiparetic patients, the implant must use unaffected cortex ipsilateral to the affected limb. This requires the identification of distinct electrophysiological features from the motor cortex associated with ipsilateral hand movements. In this study we studied 6 patients undergoing temporary placement of intracranial electrode arrays. Electrocorticographic (ECoG) signals were recorded while the subjects engaged in specific ipsilateral or contralateral hand motor tasks. Spectral changes were identified with regards to frequency, location, and timing. Ipsilateral hand movements were associated with electrophysiological changes that occur in lower frequency spectra, at distinct anatomic locations, and earlier than changes associated with contralateral hand movements. In a subset of 3 patients, features specific to ipsilateral and contralateral hand movements were used to control a cursor on a screen in real time. In ipsilateral derived control this was optimal with lower frequency spectra. There are distinctive cortical electrophysiological features associated with ipsilateral movements which can be used for device control. These findings have implications for patients with hemispheric stroke because they offer a potential methodology for which a single hemisphere can be used to enhance the function of a stroke induced hemiparesis.

1513A>C polymorphism in the P2X7 receptor gene in patients with papillary thyroid cancer: correlation with histological variants and clinical parameters.

PubMed

Dardano, Angela; Falzoni, Simonetta; Caraccio, Nadia; Polini, Antonio; Tognini, Sara; Solini, Anna; Berti, Piero; Di Virgilio, Francesco; Monzani, Fabio

2009-02-01

The modulation of the purinergic receptor P2X7 may be implicated in human carcinogenesis. The 1513A>C and 489C>T polymorphisms of P2X7R gene induce loss of function and gain of function, respectively. The aim of the study was to assess the frequency of both 1513A>C and 489C>T polymorphisms in patients with papillary thyroid carcinoma (PTC) and to evaluate the possible association with clinical and histological features. P2X7R analysis was performed in lymphocytes from 121 PTC patients (100 women, 21 men; aged 43.4 +/- 13.6 yr), 100 matched healthy subjects, and 80 patients with nodular goiter. The minor allele frequency for 1513A>C polymorphism in PTC patients with the classical variant was similar to controls (0.21 and 0.20, respectively), whereas it resulted in a significant increase in patients with the follicular variant (0.36; P = 0.01 vs. classical variant, and P = 0.005 vs. controls). In detail, 13.6% of patients with PTC follicular variant were homozygous for the 1513C allele, compared to 2.6% of patients with the classical variant and 2% of controls. Moreover, a positive relationship between 1513A>C polymorphism and either cancer diameter (Rho = 0.22; P = 0.02) or TNM stage (Rho = 0.38; P < 0.001) was found. No significant difference in the genotype frequency of 489C>T polymorphism between PTC patients and healthy controls was observed (0.42 and 0.47, respectively). Our data show, for the first time, a strong association between 1513A>C polymorphism of P2X7R gene and the follicular variant of PTC. Further studies are needed to confirm the possible role of this polymorphism as a novel clinical marker of PTC follicular variant and its usefulness in selecting patients with different clinical outcome.

LINGO1 rs9652490 and rs11856808 polymorphisms are not associated with risk for multiple sclerosis

PubMed Central

2013-01-01

Background Some recent experimental data suggest a possible role of LINGO-1 in the pathogenesis of multiple sclerosis (MS). In an attempt to identify genetic biomarkers related to MS susceptibility, we genotyped two common SNPs in the LINGO1 gene which have been associated to other neurological conditions, in patients with MS and in healthy subjects. These SNPs are linked to several SNPs within the LINGO1 gene, especially in individuals of Oriental or Caucasian descent. Methods We analyzed the allelic and genotype frequency of two LINGO1 variants (rs9652490 and rs11856808) in 293 patients with MS and 318 healthy controls, using KASPar assays. Results LINGO1 rs9652490 and rs11856808 allelic and genotype frequencies did not differ significantly between MS patients and controls. The minor allele frequencies for rs9652490 were 0.171 (95% CI = 0.140-0.201) and 0.167 (95% CI = 0.138-0.196 for cases and controls respectively (p = 0.853). For rs11856808 the minor allele frequencies were 0.317 (95% CI = 0.280-0.355) and 0.310 (95% CI = 0.274-0.346) for cases and controls, respectively (p = 0.773). Allele and genotype frequencies were unrelated with the age of onset of MS, gender, and clinical course of MS. In addition, haplotype analyses did not reveal any putative risk related to haplotypes. Conclusions These results suggest that LINGO1 rs9652490 and rs11856808 polymorphisms are not related with risk for MS. This study adds to other published evidence indicating that, to date, the LINGO1 SNPs studied here could be useful risk biomarkers of developing essential tremor, but not other movement disorders. PMID:23574883

DD genotype of ACE gene in boys: may it be a risk factor for minimal change nephrotic syndrome?

PubMed

Alasehirli, Belgin; Balat, Ayşe; Büyükçelik, Mithat

2012-01-01

It has been shown that angiotensin-converting enzyme (ACE) gene insertion/deletion (I/D) polymorphism affects the circulating and cellular levels of ACE and may be a risk factor in several renal diseases. We analyzed the association of ACE gene I/D polymorphism with the clinical presentation of minimal change nephrotic syndrome (MCNS) in a Turkish child population. This study consisted of 97 children with MCNS and 144 healthy controls. Genotyping of ACE gene was performed using polymerase chain reaction (PCR). The distributions of ACE genotypes were II in 13%, ID in 49%, and DD in 38% in patient group, and 9%, 49%, and 42% in control group, respectively. The frequency of the D allele was 63% and that of the I allele was 37% in patients. There were no relevant differences in the allele frequencies and genotypes of ACE I/D polymorphism between patients and controls. However, DD genotype was higher in boys in children with MCNS (78.4%. vs. 50.0%, p = 0.004). The frequencies of DD genotype and D allele in boys were 7.25 and 2.56 times higher than II genotype and I allele in the patient group, respectively. We suggest that DD genotype in boys may be one of the risk factors for MCNS.

Abnormal Spontaneous Brain Activity in Patients With Anisometropic Amblyopia Using Resting-State Functional Magnetic Resonance Imaging.

PubMed

Tang, Angcang; Chen, Taolin; Zhang, Junran; Gong, Qiyong; Liu, Longqian

2017-09-01

To explore the abnormality of spontaneous activity in patients with anisometropic amblyopia under resting-state functional magnetic resonance imaging (Rs-fMRI). Twenty-four participants were split into two groups. The anisometropic amblyopia group had 10 patients, all of whom had anisometropic amblyopia of the right eye, and the control group had 14 healthy subjects. All participants underwent Rs-fMRI scanning. Measurement of amplitude of low frequency fluctuations of the brain, which is a measure of the amplitudes of spontaneous brain activity, was used to investigate brain changes between the anisometropic amblyopia and control groups. Compared with an age- and gender-matched control group, the anisometropic amblyopia group showed increased amplitude of low frequency fluctuations of spontaneous brain activity in the left superior temporal gyrus, the left inferior parietal lobe, the left pons, and the right inferior semi-lunar lobe. The anisometropic amblyopia group also showed decreased amplitude of low frequency fluctuations in the bilateral medial frontal gyrus. This study demonstrated abnormal spontaneous brain activities in patients with anisometropic amblyopia under Rs-fMRI, and these abnormalities might contribute to the neuropathological mechanisms of anisometropic amblyopia. [J Pediatr Ophthalmol Strabismus. 2017;54(5):303-310.]. Copyright 2017, SLACK Incorporated.

Biallelic and Triallelic 5-Hydroxytyramine Transporter Gene-Linked Polymorphic Region (5-HTTLPR) Polymorphisms and Their Relationship with Lifelong Premature Ejaculation: A Case-Control Study in a Chinese Population

PubMed Central

Huang, Yuanyuan; Zhang, Xiansheng; Gao, Jingjing; Tang, Dongdong; Gao, Pan; Li, Chao; Liu, Weiqun; Liang, Chaozhao

2016-01-01

Background This study aimed to explore the relationship between premature ejaculation (PE) and the serotonin transporter gene-linked polymorphic region (5-HTTLPR) with respect to the biallelic and triallelic classifications. Material/Methods A total of 115 outpatients who complained of ejaculating prematurely and who were diagnosed as having lifelong premature ejaculation (LPE) and 101 controls without PE complaint were recruited. All subjects completed a detailed questionnaire and were genotyped for 5-HTTLPR polymorphism using PCR-based technology. We evaluated the associations between 5-HTTLPR allelic and genotypic frequencies and their association with LPE, as well as the intravaginal ejaculation latency time (IELT) of different 5-HTTLPR genotypes among LPE patients. Results The patients and controls did not differ significantly in terms of any characteristic except age. The results showed no significant difference regarding biallelic 5-HTTLPR. According to the triallelic classification, no significant difference was found when comparing the genotypic distribution (P=0.091). However, the distribution of the S, LG, and LA alleles in the cases was significantly different from the controls (P=0.018). We found a significantly lower frequency of LA allele and higher frequency of LG allele in patients. Based on another classification by expression, we found a significantly lower frequency of the L’L’ genotype (OR=0.37; 95%CI=0.15–0.91, P=0.025) in patients with LPE. No significant association was detected between IELT of LPE and different genotypes. Conclusions Contrary to the general classification based on S/L alleles, triallelic 5-HTTLPR was associated with LPE. Triallelic 5-HTTLPR may be a promising field for genetic research in PE to avoid false-negative results in future studies. PMID:27311544

Mismatch repair gene MSH3 polymorphism is associated with the risk of sporadic prostate cancer

PubMed Central

Hirata, Hiroshi; Hinoda, Yuji; Kawamoto, Ken; Kikuno, Nobuyuki; Suehiro, Yutaka; Okayama, Naoko; Tanaka, Yuichiro; Dahiya, Rajvir

2014-01-01

Purpose The mismatch repair (MMR) system is a DNA repair mechanism that corrects mispaired bases during DNA replication errors. Cancer cells deficient in the MMR proteins have a 102 –103-fold increase in the mutation rate. Single nucleotide polymorphisms (SNPs) of MMR genes have been shown to cause a reduction in DNA repair activity. We hypothesized that mismatch repair gene polymorphism could be a risk factor for prostate cancer (PC) and that p53 Pro/Pro genotype carriers could influence MSH3 and MSH6 polymorphisms. Material and Methods DNA samples from 110 cases of prostate cancer and healthy controls (n=110) were analyzed by SSCP and PCR-RFLP to determine the genotypic frequency of five different polymorphic loci on two MMR genes (MSH3 and MSH6) and p53 codon72. The chi-square test was applied to compare the genotype frequency between patients and controls. Results A significant increase in the G/A+A/A genotype of MSH3 Pro222Pro was observed in patients compared to controls (OR, 1.87; 95% CI, 1.0–3.5). The frequency of A/G + G/G genotypes of MSH3 exon23 Thr1036Ala also tended to increase in patients (OR, 1.57; 95% CI, 0.92–2.72). Among p53 codon72 Arg/Pro + Pro/Pro carriers, the frequency of the AG + GG genotype of MSH3 exon23 was significantly increased in patients compared to controls (OR = 2.1, 95% CI; 1.05–4.34). Conclusion This is the first report on the association of MSH3 gene polymorphisms in prostate cancer. These results suggest that the MSH3 polymorphism may be a risk factor for prostate cancer. PMID:18355840

Chronic Cerebrospinal Vascular Insufficiency Is Not Associated with HLA DRB1*1501 Status in Multiple Sclerosis Patients

PubMed Central

Weinstock-Guttman, Bianca; Zivadinov, Robert; Cutter, Gary; Tamaño-Blanco, Miriam; Marr, Karen; Badgett, Darlene; Carl, Ellen; Elfadil, Makki; Kennedy, Cheryl; Benedict, Ralph H. B.; Ramanathan, Murali

2011-01-01

Background Chronic cerebrospinal venous insufficiency (CCSVI) was described as a vascular condition characterized by anomalies of veins outside the skull was reported to be associated with multiple sclerosis (MS). The objective was to assess the associations between HLA DRB1*1501 status and the occurrence of CCSVI in MS patients. Methodology/Principal Findings This study included 423 of 499 subjects enrolled in the Combined Transcranial and Extracranial Venous Doppler Evaluation (CTEVD) study. The HLA DRB1*1501 status was obtained in 268 MS patients and 155 controls by genotyping rs3135005, a SNP associated with DRB1*1501 status. All subjects underwent a clinical examination and Doppler scan of the head and neck. The frequency of CCSVI was higher (OR = 4.52, p<0.001) in the MS group 56.0% vs. 21.9% in the controls group and also higher in the progressive MS group 69.8% vs. 49.5% in the non-progressive MS group. The 51.9% frequency of HLA DRB1*1501 positivity (HLA+) in MS was higher compared (OR = 2.33, p<0.001) to 31.6% to controls. The HLA+ frequency in the non-progressive (51.6%) and progressive MS groups (52.3%) was similar. The frequency of HLA+ CCSVI+ was 40.7% in progressive MS, 27.5% in non-progressive MS and 8.4% in controls. The presence of CCSVI was independent of HLA DRB1*1501 status in MS patients. Conclusions/Significance The lack of strong associations of CCSVI with HLA DRB1*1501 suggests that the role of the underlying associations of CCSVI in MS should be interpreted with caution. Further longitudinal studies should determine whether interactions between these factors can contribute to disease progression in MS. PMID:21340025

Magnetoencephalography for the Detection of Intervention Effects of a Specific Nutrient Combination in Patients with Mild Alzheimer’s Disease: Results from an Exploratory Double-Blind, Randomized, Controlled Study

PubMed Central

van Straaten, Elisabeth C. W.; de Waal, Hanneke; Lansbergen, Marieke M.; Scheltens, Philip; Maestu, Fernando; Nowak, Rafal; Hillebrand, Arjan; Stam, Cornelis J.

2016-01-01

Synaptic loss is an early pathological finding in Alzheimer’s disease (AD) and correlates with memory impairment. Changes in macroscopic brain activity measured with electro- and magnetoencephalography (EEG and MEG) in AD indicate synaptic changes and may therefore serve as markers of intervention effects in clinical trials. EEG peak frequency and functional networks have shown, in addition to improved memory performance, to be sensitive to detect an intervention effect in mild AD patients of the medical food Souvenaid containing the specific nutrient combination Fortasyn® Connect, which is designed to enhance synapse formation and function. Here, we explore the value of MEG, with higher spatial resolution than EEG, in identifying intervention effects of the nutrient combination by comparing MEG spectral measures, functional connectivity, and networks between an intervention and a control group. Quantitative markers describing spectral properties, functional connectivity, and graph theoretical aspects of MEG from the exploratory 24-week, double-blind, randomized, controlled Souvenir II MEG sub-study (NTR1975, http://www.trialregister.nl) in drug naïve patients with mild AD were compared between a test group (n = 27), receiving Souvenaid, and a control group (n = 28), receiving an isocaloric control product. The groups were unbalanced at screening with respect to Mini-Mental State Examination. Peak frequencies of MEG were compared with EEG peak frequencies, recorded in the same patients at similar time points, were compared with respect to sensitivity to intervention effects. No consistent statistically significant intervention effects were detected. In addition, we found no difference in sensitivity between MEG and EEG peak frequency. This exploratory study could not unequivocally establish the value of MEG in detecting interventional effects on brain activity, possibly due to small sample size and unbalanced study groups. We found no indication that the difference could be attributed to a lack of sensitivity of MEG compared with EEG. MEG in randomized controlled trials is feasible but its value to disclose intervention effects of Souvenaid in mild AD patients needs to be studied further. PMID:27799918

Magnetoencephalography for the Detection of Intervention Effects of a Specific Nutrient Combination in Patients with Mild Alzheimer's Disease: Results from an Exploratory Double-Blind, Randomized, Controlled Study.

PubMed

van Straaten, Elisabeth C W; de Waal, Hanneke; Lansbergen, Marieke M; Scheltens, Philip; Maestu, Fernando; Nowak, Rafal; Hillebrand, Arjan; Stam, Cornelis J

2016-01-01

Synaptic loss is an early pathological finding in Alzheimer's disease (AD) and correlates with memory impairment. Changes in macroscopic brain activity measured with electro- and magnetoencephalography (EEG and MEG) in AD indicate synaptic changes and may therefore serve as markers of intervention effects in clinical trials. EEG peak frequency and functional networks have shown, in addition to improved memory performance, to be sensitive to detect an intervention effect in mild AD patients of the medical food Souvenaid containing the specific nutrient combination Fortasyn ® Connect, which is designed to enhance synapse formation and function. Here, we explore the value of MEG, with higher spatial resolution than EEG, in identifying intervention effects of the nutrient combination by comparing MEG spectral measures, functional connectivity, and networks between an intervention and a control group. Quantitative markers describing spectral properties, functional connectivity, and graph theoretical aspects of MEG from the exploratory 24-week, double-blind, randomized, controlled Souvenir II MEG sub-study (NTR1975, http://www.trialregister.nl) in drug naïve patients with mild AD were compared between a test group ( n  = 27), receiving Souvenaid, and a control group ( n  = 28), receiving an isocaloric control product. The groups were unbalanced at screening with respect to Mini-Mental State Examination. Peak frequencies of MEG were compared with EEG peak frequencies, recorded in the same patients at similar time points, were compared with respect to sensitivity to intervention effects. No consistent statistically significant intervention effects were detected. In addition, we found no difference in sensitivity between MEG and EEG peak frequency. This exploratory study could not unequivocally establish the value of MEG in detecting interventional effects on brain activity, possibly due to small sample size and unbalanced study groups. We found no indication that the difference could be attributed to a lack of sensitivity of MEG compared with EEG. MEG in randomized controlled trials is feasible but its value to disclose intervention effects of Souvenaid in mild AD patients needs to be studied further.

Glycemic penalty index for adequately assessing and comparing different blood glucose control algorithms

PubMed Central

Van Herpe, Tom; De Brabanter, Jos; Beullens, Martine; De Moor, Bart; Van den Berghe, Greet

2008-01-01

Introduction Blood glucose (BG) control performed by intensive care unit (ICU) nurses is becoming standard practice for critically ill patients. New (semi-automated) 'BG control' algorithms (or 'insulin titration' algorithms) are under development, but these require stringent validation before they can replace the currently used algorithms. Existing methods for objectively comparing different insulin titration algorithms show weaknesses. In the current study, a new approach for appropriately assessing the adequacy of different algorithms is proposed. Methods Two ICU patient populations (with different baseline characteristics) were studied, both treated with a similar 'nurse-driven' insulin titration algorithm targeting BG levels of 80 to 110 mg/dl. A new method for objectively evaluating BG deviations from normoglycemia was founded on a smooth penalty function. Next, the performance of this new evaluation tool was compared with the current standard assessment methods, on an individual as well as a population basis. Finally, the impact of four selected parameters (the average BG sampling frequency, the duration of algorithm application, the severity of disease, and the type of illness) on the performance of an insulin titration algorithm was determined by multiple regression analysis. Results The glycemic penalty index (GPI) was proposed as a tool for assessing the overall glycemic control behavior in ICU patients. The GPI of a patient is the average of all penalties that are individually assigned to each measured BG value based on the optimized smooth penalty function. The computation of this index returns a number between 0 (no penalty) and 100 (the highest penalty). For some patients, the assessment of the BG control behavior using the traditional standard evaluation methods was different from the evaluation with GPI. Two parameters were found to have a significant impact on GPI: the BG sampling frequency and the duration of algorithm application. A higher BG sampling frequency and a longer algorithm application duration resulted in an apparently better performance, as indicated by a lower GPI. Conclusion The GPI is an alternative method for evaluating the performance of BG control algorithms. The blood glucose sampling frequency and the duration of algorithm application should be similar when comparing algorithms. PMID:18302732

Cardiac autonomic denervation in Parkinson's disease is linked to REM sleep behavior disorder.

PubMed

Postuma, Ronald B; Montplaisir, Jacques; Lanfranchi, Paola; Blais, Hélène; Rompré, Sylvie; Colombo, Roberto; Gagnon, Jean-François

2011-07-01

Recent studies have suggested a close connection between autonomic dysfunction and rapid eye movement sleep behavior disorder, which differs in nature from other early-stage markers of Parkinson's disease. In this study we examined the relationship between rapid eye movement sleep behavior disorder and autonomic dysfunction in Parkinson's disease as measured by cardiac beat-to-beat variability. In 53 patients with Parkinson's disease and 36 controls, electrocardiographic trace from a polysomnogram was assessed for measures of beat-to-beat RR variability including RR-standard deviation and frequency domains (low- and high-frequency components). Results were compared between patients with Parkinson's disease and controls, and between patients with Parkinson's disease with and without rapid eye movement sleep behavior disorder. On numerous cardiac autonomic measures, patients with Parkinson's disease showed clear abnormalities compared with controls. However, these abnormalities were confined only to those patients with associated rapid eye movement sleep behavior; those without were not different than controls. As with other clinical autonomic variables, cardiac autonomic denervation is predominantly associated not with Parkinson's disease itself, but with the presence of rapid eye movement sleep behavior disorder. Copyright © 2011 Movement Disorder Society.

Screening for impulse control symptoms in patients with de novo Parkinson disease

PubMed Central

Papay, Kimberly; Siderowf, Andrew

2013-01-01

Objective: To determine the frequency and correlates of impulse control and related behavior symptoms in patients with de novo, untreated Parkinson disease (PD) and healthy controls (HCs). Methods: The Parkinson's Progression Markers Initiative is an international, multisite, case-control clinical study conducted at 21 academic movement disorders centers. Participants were recently diagnosed, untreated PD patients (n = 168) and HCs (n = 143). The outcome measures were presence of current impulse control and related behavior symptoms based on recommended cutoff points for the Questionnaire for Impulsive-Compulsive Disorders in Parkinson's Disease (QUIP)-Short Form. Results: There were 311 participants with complete QUIP data. Frequencies of impulse control and related behavior symptoms for patients with PD vs HCs were as follows: gambling (1.2% vs 0.7%), buying (3.0% vs 2.1%), sexual behavior (4.2% vs 3.5%), eating (7.1% vs 10.5%), punding (4.8% vs 2.1%), hobbyism (5.4% vs 11.9%), walkabout (0.6% vs 0.7%), and any impulse control or related behavior (18.5% vs 20.3%). In multivariable models, a diagnosis of PD was not associated with symptoms of any impulse control or related behavior (p ≥ 0.10 in all cases). Conclusions: PD itself does not seem to confer an increased risk for development of impulse control or related behavior symptoms, which further reinforces the reported association between PD medications and impulse control disorders in PD. Given that approximately 20% of patients with newly diagnosed PD report some impulse control or related behavior symptoms, long-term follow-up is needed to determine whether such patients are at increased risk for impulse control disorder development once PD medications are initiated. PMID:23296128

Exacerbation frequency and course of COPD.

PubMed

Halpin, David M G; Decramer, Marc; Celli, Bartolome; Kesten, Steven; Liu, Dacheng; Tashkin, Donald P

2012-01-01

Exacerbations affect morbidity in chronic obstructive pulmonary disease (COPD). We sought to evaluate the association between exacerbation frequency and spirometric and health status changes over time using data from a large, long-term trial. This retrospective analysis of data from the 4-year UPLIFT (Understanding Potential Long-term Impacts on Function with Tiotropium) trial compared tiotropium with placebo. Annualized rates of decline and estimated mean differences at each time point were analyzed using a mixed-effects model according to subgroups based on exacerbation frequency (events per patient-year: 0, >0-1, >1-2, and >2). Spirometry and the St George's Respiratory Questionnaire (SGRQ) were performed at baseline and every 6 months (also at one month for spirometry). In total, 5992 patients (mean age 65 years, 75% male) were randomized. Higher exacerbation frequency was associated with lower baseline postbronchodilator forced expiratory volume in one second (FEV(1)) (1.40, 1.36, 1.26, and 1.14 L) and worsening SGRQ scores (43.7, 44.1, 47.8, and 52.4 units). Corresponding rates of decline in postbronchodilator FEV(1) (mL/year) were 40, 41, 43, and 48 (control), and 34, 38, 48, and 49 (tiotropium). Values for postbronchodilator forced vital capacity decline (mL/year) were 45, 56, 74, and 83 (control), and 43, 57, 83, and 95 (tiotropium). The rates of worsening in total SGRQ score (units/year) were 0.72, 1.16, 1.44, and 1.99 (control), and 0.38, 1.29, 1.68, and 2.86 (tiotropium). The proportion of patients who died (intention-to-treat analysis until four years [1440 days]) for the entire cohort increased with increasing frequency of hospitalized exacerbations. Increasing frequency of exacerbations worsens the rate of decline in lung function and health-related quality of life in patients with COPD. Increasing rates of hospitalized exacerbations are associated with increasing risk of death.

Anemia and hematinic deficiencies in gastric parietal cell antibody-positive and antibody-negative erosive oral lichen planus patients with thyroid antibody positivity.

PubMed

Chang, Julia Y-F; Chen, I-Chang; Wang, Yi-Ping; Wu, Yu-Hsueh; Chen, Hsin-Ming; Sun, Andy

2016-11-01

Serum gastric parietal cell antibody (GPCA), thyroglobulin antibody (TGA), and thyroid microsomal antibody (TMA) are found in some erosive oral lichen planus (EOLP) patients. This study assessed whether serum GPCA, TGA and TMA and EOLP itself played significant roles in causing anemia and hematinic deficiencies in TGA/TMA-positive EOLP patients with GPCA positivity (GPCA + /TGA/TMA/EOLP patients) or negativity (GPCA - /TGA/TMA/EOLP patients). The mean corpuscular volume (MCV) and mean blood hemoglobin (Hb), iron, vitamin B12, and folic acid levels were measured and compared between any two of the four groups of 29 GPCA + /TGA/TMA/EOLP patients, 80 GPCA - /TGA/TMA/EOLP patients, 198 all antibodies-negative EOLP patients (Abs - /EOLP patients), and 218 healthy control individuals. GPCA + /TGA/TMA/EOLP patients had significantly lower mean Hb and vitamin B12 levels as well as significantly greater frequencies of Hb, iron, and vitamin B12 deficiencies than healthy controls. GPCA + /TGA/TMA/EOLP patients had significantly lower serum vitamin B12 level and higher MCV as well as a significantly greater frequency of vitamin B12 deficiency than GPCA - /TGA/TMA/EOLP patients. Furthermore, both GPCA - /TGA/TMA/EOLP and Abs - /EOLP patients did have significantly lower mean Hb, MCV, and iron (for women only) levels, as well as significantly greater frequencies of Hb and iron deficiencies than healthy controls. However, there were no significant differences in measured blood data between GPCA - /TGA/TMA/EOLP and Abs - /EOLP patients. We conclude that serum GPCA is the major factor causing vitamin B12 deficiency, macrocytosis and pernicious anemia in GPCA + /TGA/TMA/EOLP patients. ELOP itself but not TGA/TMA positivity plays a significant role in causing anemia and hematinic deficiencies in GPCA - /TGA/TMA/EOLP patients. Copyright © 2016. Published by Elsevier B.V.

Cytogenetic damage of oral mucosa by consumption of alcohol, tobacco and illicit drugs.

PubMed

Lima, Celina Faig; Oliveira, Lidiana Ubiña; Cabral, Luiz Antonio Guimarães; Brandão, Adriana Aigotti Haberbeck; Salgado, Miguel Angelo Castillo; Almeida, Janete Dias

2010-07-01

The aim of the present study was to quantitatively evaluate micronuclei (MN) in the mucosa of users of alcohol, tobacco and illicit drugs in a Brazilian population. Patients were divided: (i) experimental group - 24 patients users of alcohol, tobacco and illicit drugs from the Center of Psychosocial Care for Alcohol and other Drugs (CAPSad), São José dos Campos city, and (ii) control group: 24 patients attending the clinics of the São José dos Campos Dental School FOSJC-UNESP. Criterion for inclusion in the two groups was no visible clinical alteration in the oral mucosa. Exfoliative cytology specimens were obtained from the left side of the border of the tongue. Feulgen staining was used and 600 cells per subject were evaluated by light microscopy. The frequency of MN and micronucleated cells was analysed statistically using the Kruskal-Wallis and Mann-Whitney tests. The incidence of MN was 3.08 +/- 3.20 in the CAPSad group and 2.08 +/- 1.93 in the control group. The frequency of micronucleated cells was 2.38 +/- 2.57 in the CAPSad group and 1.42 +/- 1.25 in the control group. The results showed a higher frequency of MN and micronucleated cells in the CAPSad group, but the difference compared with the control group was not significant.

Association between human leukocyte antigen-DR and demylinating Guillain-Barré syndrome

PubMed Central

Hasan, Zaki N.; Zalzala, Haider H.; Mohammedsalih, Hyam R.; Mahdi, Batool M.; Abid, Laheeb A.; Shakir, Zena N.; Fadhel, Maithem J.

2014-01-01

Objective: To find an association between human leukocyte antigen (HLA) class II DRB1, DRB3, DRB4, and DRB5 alleles frequencies in a sample of Iraqi patients with Guillain-Barré syndrome (GBS) and compare with a healthy control group. Methods: We performed a cross-sectional study consisting of 30 Iraqi Arab patients with GBS attending the Neurological Department in the Neuroscience Hospital, Baghdad, Iraq between September 2012 and June 2013. The control group comprised 42 apparently healthy volunteers. Human leukocyte antigen genotyping for HLA DRB1, DRB3, DRB4, and DRB5 was performed using the polymerase chain reaction-sequence-specific primers method. The allele frequencies were compared across both groups. Major histocompatibility complex (MHC)-class II HLA-DR genotyping and serotyping were performed by software analysis. Results: We found increased frequencies of HLA genotype DRB1*03:01 (p=0.0009), DRB1*07:01 (p=0.0015), and DRB4*01:01 (p<0.0001) in patients with GBS compared with healthy controls. The HLA DR6 was increased in the control group (p<0.0001). Conclusions: Our results suggest an association between HLA-DRB1*03:01, DRB1*07:01, DRB4*01:01, and HLA DR3, DR7 and a susceptibility to GBS. PMID:25274590

[Prospective economic evaluation of image-guided radiation therapy for prostate cancer in the framework of the national programme for innovative and costly therapies assessment].

PubMed

Pommier, P; Morelle, M; Perrier, L; de Crevoisier, R; Laplanche, A; Dudouet, P; Mahé, M-A; Chauvet, B; Nguyen, T-D; Créhange, G; Zawadi, A; Chapet, O; Latorzeff, I; Bossi, A; Beckendorf, V; Touboul, E; Muracciole, X; Bachaud, J-M; Supiot, S; Lagrange, J-L

2012-09-01

The main objective of the economical study was to prospectively and randomly assess the additional costs of daily versus weekly patient positioning quality control in image-guided radiotherapy (IGRT), taking into account the modalities of the 3D-imaging: tomography (CBCT) or gold seeds implants. A secondary objective was to prospectively assess the additional costs of 3D versus 2D imaging with portal imaging for patient positioning controls. Economics data are issued from a multicenter randomized medico-economics trial comparing the two frequencies of patient positioning control during prostate IGRT. A prospective cohort with patient positioning control with PI (control group) was constituted for the cost comparison between 3D (IGRT) versus 2D imaging. The economical evaluation was focused to the radiotherapy direct costs, adopting the hospital's point of view and using a microcosting method applied to the parameters that may lead to cost differences between evaluated strategies. The economical analysis included a total of 241 patients enrolled between 2007 and 2011 in seven centres, 183 in the randomized study (128 with CBCT and 55 with fiducial markers) and 58 in the control group. Compared to weekly controls, the average additional cost per patient of daily controls was €847 (CBCT) and €179 (markers). Compared to PI, the average additional cost per patient was €1392 (CBCT) and €997 (fiducial markers) for daily controls; €545 (CBCT) and €818 (markers) in case of weekly controls. A daily frequency for image control in IGRT and 3D images patient positioning control (IGRT) for prostate cancer lead to significant additional cost compared to weekly control and 2D imaging (PI). Long-term clinical assessment will permit to assess the medico-economical ratio of these innovative radiotherapy modalities. Copyright © 2012 Société française de radiothérapie oncologique (SFRO). Published by Elsevier SAS. All rights reserved.

Assessment of Time and Frequency Domain Parameters of Heart Rate Variability and Interictal Cardiac Rhythm Abnormalities in Drug-naïve Patients with Idiopathic Generalized Epilepsy

PubMed Central

Kilinc, Ozden; Cincin, Altug; Pehlivan, Aslihan; Midi, Ipek; Kepez, Alper; Agan, Kadriye

2016-01-01

Background and Purpose: Epilepsy is a disease known to occur with autonomous phenomenons. Earlier studies indicate decreased heart rate variability (HRV) during ictal and interictal periods among epilepsy patients. In this study, we aim to investigate cardiac rhythm abnormalities and HRV during interictal period between drug-naïve patients with idiopathic generalized epilepsy (IGE) and healthy control group. Methods: Twenty-six patients with IGE and 26 healthy individuals included in the study. In order to eliminate any structural cardiac pathology, transthoracic echocardiography was performed in all subjects and time and frequency domain parameters of HRV were evaluated after 24-hour rhythm holter monitoring. Results: Between two groups, no significant difference was detected in terms of mean heart rate and maximum duration between the start of the Q waves and the end of the T waves (QT intervals). In the time domain analysis of HRV, no statically significant difference was detected for standard deviation of all R - R intervals and root-mean-square of successive differences between patient and control group (p = 0,070 and p = 0,104 respectively). In the frequency domain analysis of HRV, patients tended to display lower total power and very low frequency power than did healthy subjects, but the differences were not statistically significant. Conclusions: Our results suggest that there is no major effect of the epilepsy on HRV in patients with IGE. It should be emphasized that, in this study, HRV was evaluated only in patients with IGE and that the results are not proper to be generalized for patients with partial seizures. PMID:27390676

Th17 and Th22 cells in psoriatic arthritis and psoriasis

PubMed Central

2013-01-01

Introduction The aim of this study was to characterize interleukin 17 (IL-17) and interleukin 22 (IL-22) producing cells in peripheral blood (PB), skin, synovial fluid (SF) and synovial tissue (ST) in patients with psoriasis (Ps) and psoriatic arthritis (PsA). Methods Flow cytometry was used to enumerate cells making IL-22 and IL-17, in skin and/or SF and PB from 11 patients with Ps and 12 patients with PsA; skin and PB of 15 healthy controls and SF from rheumatoid arthritis (RA) patients were used as controls. Expression of the interleukin 23 receptor (IL-23R) and chemokine receptors CCR4 and CCR6 was examined. Secretion of IL-17 and IL-22 was measured by ELISA. ST was analysed by immunohistochemical staining of IL-17 and IL-22. Results Increased frequencies of IL-17+ and IL-22+ CD4+ T cells were seen in PB of patients with PsA and Ps. IL-17 secretion was significantly elevated in both PsA and Ps, whilst IL-22 secretion was higher in PsA compared to Ps and healthy controls. A higher proportion of the CD4+ cells making IL-17 or IL-22 expressed IL-23R and frequencies of IL-17+, CCR6+ and CCR4+ T cells were elevated in patients with Ps and those with PsA. In patients with PsA, CCR6+ and IL-23R + T cells numbers were elevated in SF compared to PB. Increased frequencies of IL-17+ and IL-22+ CD4+ T cells were demonstrated in Ps skin lesions. In contrast, whilst elevated frequencies of CD4+ IL-17+ cells were seen in PsA SF compared to PB, frequencies of CD4+ IL-22+ T cells were lower. Whereas IL-17 expression was equivalent in PsA, osteoarthritis (OA) and RA ST, IL-22 expression was higher in RA than either OA or PsA ST, in which IL-22 was strikingly absent. Conclusions Elevated frequencies of IL-17 and IL-22 producing CD4+ T cells were a feature of both Ps and PsA. However their differing distribution at disease sites, including lower frequencies of IL-22+ CD4+ T cells in SF compared to skin and PB, and lack of IL-22 expression in ST suggests that Th17 and Th22 cells have common, as well as divergent roles in the pathogenesis of Ps and PsA. PMID:24286492

FAS and FAS-L Genotype and Expression in Patients With Recurrent Pregnancy Loss

PubMed Central

Banzato, Priscilla Chamelete Andrade; Daher, Silvia; Traina, Évelyn; Torloni, Maria Regina; Gueuvoghlanian-Silva, Bárbara Yasmin; Puccini, Renata Fiorini; Pendeloski, Karen Priscilla Tezotto

2013-01-01

We assessed FAS and FAS-L gene polymorphisms and messenger RNA (mRNA) levels in patients with recurrent pregnancy loss (RPL). This case–control study compared 129 women with RPL with 235 healthy multiparous women (control group). Genomic DNA and total mRNA were extracted from whole blood, and polymorphisms genotyping was performed by polymerase chain reaction (PCR). Messenger RNA expression levels were analyzed by real-time PCR. Data were analyzed by chi-square and Fisher exact tests; P < .05 was considered significant. There were no significant differences in the FAS (670 A/G) genotype or allelic frequencies between the RPL and control groups. We found significant differences in the FAS-L (844 C/T) genotype and allelic frequencies between women with RPL and controls. Patients with RPL had significantly higher FAS-L expression. Our data suggest that FAS-L gene polymorphism is associated with increased susceptibility to RPL. Moreover, women with RPL seem to abnormally express FAS-FAS-L molecules. PMID:23420824

Association of the IL4R single-nucleotide polymorphism I50V with recurrent spontaneous abortion (RSA).

PubMed

Tavasolian, Fataneh; Abdollahi, Elham; Samadi, Morteza

2014-07-01

Recurrent spontaneous abortion (RSA) is defined as three or more consecutive abortions before the 20th week of gestation. There is increasing evidence to support an immunological mechanism for the occurrence of RSA. The purpose of our study was to examine whether single-nucleotide polymorphisms (SNPs) of the interleukin-4 receptor gene IL4R influence susceptibility to, recurrent spontaneous abortion. This is a case-control study. We recruited 200 patients with RSA (case group) using established diagnostic criteria and 200, normal individuals (control group) at the fertility and infertility center in Yazd city and Isfahan city during 2012 to 2013. We screened the I50V variant in IL-4R in patients and controls by PCR-RFLF method, and we performed an association analysis between I50V variant and RSA.the data was analyzed by spss 16 software using Chi-square test. No differences in the genotype and allele frequencies of the I50V SNPs were identified between patients with RSA and healthy controls. The frequency of SNP in IL-4 receptor (I50V) in patients with recurrent spontaneous abortion did not differ significantly compared with the control group. Analysis of IL4R SNP haplotypes or complex alleles suggested no dominant protection in patients with RSA.

Fibromyalgia is Associated with Impaired Balance and Falls

PubMed Central

Jones, Kim D.; Horak, Fay B.; Winters, Kerri Stone; Morea, Jessica M.; Bennett, Robert M.

2010-01-01

Background/Objective The purpose of this study was to determine whether FM patients differ from matched healthy controls in clinical tests of balance ability and fall frequency. Methods 34 FM patients and 32 age matched controls were administered the Balance Evaluation-Systems Test (BESTest), rated their balance confidence with the Activities-Specific Balance Confidence Scale (ABC) and reported the number of falls in the last 6 months. The Fibromyalgia Impact Questionnaire (FIQ) was used to assess FM severity. Results FM patients had significantly impaired balance in all components of the BESTest compared to controls. They also scored more poorly on balance confidence. Overall fibromyalgia severity (FIQ) correlated significantly with the BESTest, and the ABC scale. The BESTest and ABC correlated significantly with 6 commonly reported FM symptoms (excluding pain). FM patients reported a total of 37 falls over the last six-months compared to 6 falls in healthy controls. Conclusion Fibromyalgia is associated with balance problems and increased fall frequency. Patients were aware of their balance problems. These results suggest that FM may affect peripheral and/or central mechanisms of postural control. Further objective study is needed to identify the relative contributions of neural and musculoskeletal impairments to postural stability in FM, thus providing clinicians with exercise prescriptions that maximize postural stability. PMID:19125137

Detection of changes of high-frequency activity by statistical time-frequency analysis in epileptic spikes

PubMed Central

Kobayashi, Katsuhiro; Jacobs, Julia; Gotman, Jean

2013-01-01

Objective A novel type of statistical time-frequency analysis was developed to elucidate changes of high-frequency EEG activity associated with epileptic spikes. Methods The method uses the Gabor Transform and detects changes of power in comparison to background activity using t-statistics that are controlled by the false discovery rate (FDR) to correct type I error of multiple testing. The analysis was applied to EEGs recorded at 2000 Hz from three patients with mesial temporal lobe epilepsy. Results Spike-related increase of high-frequency oscillations (HFOs) was clearly shown in the FDR-controlled t-spectra: it was most dramatic in spikes recorded from the hippocampus when the hippocampus was the seizure onset zone (SOZ). Depression of fast activity was observed immediately after the spikes, especially consistently in the discharges from the hippocampal SOZ. It corresponded to the slow wave part in case of spike-and-slow-wave complexes, but it was noted even in spikes without apparent slow waves. In one patient, a gradual increase of power above 200 Hz preceded spikes. Conclusions FDR-controlled t-spectra clearly detected the spike-related changes of HFOs that were unclear in standard power spectra. Significance We developed a promising tool to study the HFOs that may be closely linked to the pathophysiology of epileptogenesis. PMID:19394892

Pandemic influenza immunization in primary antiphospholipid syndrome (PAPS): a trigger to thrombosis and autoantibody production?

PubMed

de Medeiros, D Martins; Silva, C A; Bueno, C; Ribeiro, A C Medeiros; Viana, V dos Santos T; Carvalho, J Freire; Bonfa, E

2014-11-01

The objective of this report is to conduct short- and long-term evaluation of a large panel of antiphospholipid (aPL) autoantibodies following pandemic influenza A/H1N1 non-adjuvant vaccine in primary antiphospholipid syndrome (PAPS) patients and healthy controls. Forty-five PAPS and 33 healthy controls were immunized with H1N1 vaccine. They were prospectively assessed at pre-vaccination, and three weeks and six months after vaccination. aPL autoantibodies were determined by an enzyme-linked immunosorbent assay (ELISA) and included IgG/IgM: anticardiolipin (aCL), anti-beta2glycoprotein I (anti-β2GPI); anti-annexin V, anti-phosphatidyl serine and anti-prothrombin antibodies. Anti-Sm was determined by ELISA and anti-double-stranded DNA (anti-dsDNA) by indirect immunofluorescence. Arterial and venous thrombosis were also clinically assessed. Pre-vaccination frequency of at least one aPL antibody was significantly higher in PAPS patients versus controls (58% vs. 24%, p = 0.0052). The overall frequencies of aPL antibody at pre-vaccination, and three weeks and six months after immunization remained unchanged in patients (p = 0.89) and controls (p = 0.83). The frequency of each antibody specificity for patients and controls remained stable in the three evaluated periods (p > 0.05). At three weeks, two PAPS patients developed a new but transient aPL antibody (aCL IgG and IgM), whereas at six months new aPL antibodies were observed in six PAPS patients and none had high titer. Anti-Sm and anti-dsDNA autoantibodies were uniformly negative and no new arterial or venous thrombosis were observed throughout the study. This is the first study to demonstrate that pandemic influenza vaccine in PAPS patients does not trigger short- and long-term thrombosis or a significant production of aPL-related antibodies (ClinicalTrials.gov, #NCT01151644). © The Author(s) 2014 Reprints and permissions: sagepub.co.uk/journalsPermissions.nav.

Impact of chronic obstructive pulmonary diseases on left ventricular diastolic function in hospitalized elderly patients

PubMed Central

Huang, Ying-Shuo; Feng, Ying-Chao; Zhang, Jian; Bai, Li; Huang, Wei; Li, Min; Sun, Ying

2015-01-01

Objective To evaluate the impact of chronic obstructive pulmonary disease (COPD) on left ventricular (LV) diastolic function in hospitalized elderly patients. Methods This was a case–control observational study of 148 consecutive hospitalized elderly patients (≥65 years old): 73 subjects without COPD as controls and 75 patients with COPD. Mild-to-moderate COPD was defined as stages 1 and 2, while severe and very severe COPD was defined as stages 3 and 4, according to the Global Initiative for Chronic Obstructive Lung Disease guidelines. Clinical characteristics and echocardiographic parameters were analyzed and compared. Results Compared with the control group, patients with COPD had a higher frequency of LV diastolic dysfunction and heart failure with preserved ejection fraction. Smoking frequency, frequency of cerebrovascular diseases and diabetes, and serum N-terminal pro-B-type natriuretic peptide (NT-proBNP) levels were higher in the COPD group (all P<0.05). COPD patients showed more abnormalities in diastolic function (E/e′: 11.51±2.50 vs 10.42±3.25, P=0.047), but no differences in systolic function and right ventricular function (all P>0.05). Patients with severe/very severe COPD showed no differences in LV diastolic function compared to patients with mild/moderate COPD (P>0.05), but serum NT-proBNP levels were higher in severe/very severe COPD (P<0.05). Conclusion Results suggest that early-stage COPD may have an impact on the LV diastolic function. Severe COPD mainly affected right ventricular function. In hospitalized elderly patients with COPD, LV diastolic dysfunction should be taken into account together with right ventricular function. PMID:25565790

Voluntary control of arm movement in athetotic patients

PubMed Central

Neilson, Peter D.

1974-01-01

Visual tracking tests have been employed to provide a quantitative description of voluntary control of arm movement in a group of patients suffering from athetoid cerebral palsy. Voluntary control was impaired in all patients in a characteristic manner. Maximum velocity and acceleration of arm movement were reduced to about 30-50% of their values in normal subjects and the time lag of the response to a visual stimulus was two or three times greater than in normals. Tracking transmission characteristics indicated a degree of underdamping which was not presnet in normal or spastic patients. This underdamping could be responsible for a low frequency (0·3-0·6 Hz) transient oscillation in elbow-angle movements associated with sudden voluntary movement. The maximum frequency at which patients could produce a coherent tracking response was only 50% of that in normal subjects and the relationship between the electromyogram and muscle contraction indicated that the mechanical load on the biceps muscle was abnormal, possibly due to increased stiffness of joint movement caused by involuntary activity in agonist and antagonist muscles acting across the joint. Images PMID:4362243

Deficits of Semantic Control Produce Absent or Reverse Frequency Effects in Comprehension: Evidence from Neuropsychology and Dual Task Methodology

ERIC Educational Resources Information Center

Almaghyuli, Azizah; Thompson, Hannah; Lambon Ralph, Matthew A.; Jefferies, Elizabeth

2012-01-01

Patients with multimodal semantic impairment following stroke (referred to here as "semantic aphasia" or SA) fail to show the standard effects of frequency in comprehension tasks. Instead, they show absent or even "reverse" frequency effects: i.e., better understanding of less common words. In addition, SA is associated with poor regulatory…

Temperature-controlled laminar airflow in severe asthma for exacerbation reduction (The LASER Trial): study protocol for a randomised controlled trial.

PubMed

Storrar, Will; Fogg, Carole; Brown, Tom; Dennison, Paddy; Yu, Ly-Mee; Dewey, Ann; Luengo-Fernandez, Ramon; Dean, Tara; Rahman, Najib; Mansur, Adel; Howarth, Peter H; Bradding, Peter; Chauhan, Anoop J

2016-01-08

Asthma affects more than 5 million patients in the United Kingdom. Nearly 500,000 of these patients have severe asthma with severe symptoms and frequent exacerbations that are inadequately controlled with available treatments. The burden of severe asthma on the NHS is enormous, accounting for 80 % of the total asthma cost (£1 billion), with frequent exacerbations and expensive medications generating much of this cost. Of those patients with severe asthma, 70 % are sensitised to indoor aeroallergens, and the level of exposure to allergens determines the symptoms; patients exposed to high levels are therefore most at risk of exacerbations and hospital admissions. The LASER trial aims to assess whether a new treatment, temperature controlled laminar airflow (TLA) delivered by the Airsonett™ device, can reduce the frequency of exacerbations in patients with severe allergic asthma by reducing exposure to aeroallergens overnight. This multicentre study is a placebo-controlled, blinded, randomised controlled, parallel group trial. A total of 222 patients with a new or current diagnosis of severe allergic asthma will be assigned with a random element in a 1:1 ratio to receive either an active device for one year or a placebo device. The primary outcome is the frequency of severe asthma exacerbations occurring over a 12-month period, defined in accordance with the American Thoracic Society/European Respiratory Society (ATS/ERS) guidelines. Secondary outcomes include changes in asthma control, lung function, asthma-specific and global quality of life for participants and their carers, adherence to intervention, healthcare resource use and costs, and cost-effectiveness. Qualitative interviews will be conducted to elicit participant's and their partner's perceptions of the treatment. Effective measures of allergen avoidance have, to date, proved elusive. The LASER trial aims to address this. The study will ascertain whether home-based nocturnal TLA usage over a 12-month period can reduce the frequency of exacerbations and improve asthma control and quality of life as compared to placebo, whilst being cost-effective and acceptable to adults with poorly controlled, severe allergic asthma. The results of this study will be widely applicable to the many patients with allergic asthma both in the UK and internationally. Current controlled trials ISRCTN46346208 (Date assigned 22 January 2014).

Obsessive compulsive personality disorder and Parkinson's disease.

PubMed

Nicoletti, Alessandra; Luca, Antonina; Raciti, Loredana; Contrafatto, Donatella; Bruno, Elisa; Dibilio, Valeria; Sciacca, Giorgia; Mostile, Giovanni; Petralia, Antonio; Zappia, Mario

2013-01-01

To evaluate the frequency of personality disorders in Parkinson's disease (PD) patients and in a group of healthy controls. Patients affected by PD diagnosed according to the United Kingdom Parkinson's disease Society Brain Bank diagnostic criteria and a group of healthy controls were enrolled in the study. PD patients with cognitive impairment were excluded from the study. Structured Clinical Interview for Personality Disorders-II (SCID-II) has been performed to evaluate the presence of personality disorders. Presence of personality disorders, diagnosed according to the DSM-IV, was confirmed by a psychiatric interview. Clinical and pharmacological data were also recorded using a standardized questionnaire. 100 PD patients (57 men; mean age 59.0 ± 10.2 years) and 100 healthy subjects (52 men; mean age 58.1 ± 11.4 years) were enrolled in the study. The most common personality disorder was the obsessive-compulsive personality disorder diagnosed in 40 PD patients and in 10 controls subjects (p-value<0.0001) followed by the depressive personality disorder recorded in 14 PD patients and 4 control subjects (p-value 0.02). Obsessive-compulsive personality disorder was also found in 8 out of 16 de novo PD patients with a short disease duration. PD patients presented a high frequency of obsessive-compulsive personality disorder that does not seem to be related with both disease duration and dopaminergic therapy.

Lack of Association Between Toll-like Receptor 2 Polymorphisms (R753Q and A-16934T) and Atopic Dermatitis in Children from Thrace Region of Turkey

PubMed Central

Can, Ceren; Yazıcıoğlu, Mehtap; Gürkan, Hakan; Tozkır, Hilmi; Görgülü, Adnan; Süt, Necdet Hilmi

2017-01-01

Background: Atopic dermatitis is the most common chronic inflammatory skin disease. A complex interaction of both genetic and environmental factors is thought to contribute to the disease. Aims: To evaluate whether single nucleotide polymorphisms in the TLR2 gene c.2258C>T (R753Q) (rs5743708) and TLR2 c.-148+1614T>A (A-16934T) (rs4696480) (NM_0032643) are associated with atopic dermatitis in Turkish children. Study Design: Case-control study. Methods: The study was conducted on 70 Turkish children with atopic dermatitis aged 0.5-18 years. The clinical severity of atopic dermatitis was evaluated by the severity scoring of atopic dermatitis index. Serum total IgE levels, specific IgE antibodies to inhalant and food allergens were measured in both atopic dermatitis patients and controls, skin prick tests were done on 70 children with atopic dermatitis. Genotyping for TLR2 (R753Q and A-16934T) single nucleotide polymorphisms was performed in both atopic dermatitis patients and controls. Results: Cytosine-cytosine and cytosin-thymine genotype frequencies of the TLR2 R753Q single nucleotide polymorphism in the atopic dermatitis group were determined as being 98.6% and 1.4%, cytosine allele frequency for TLR2 R753Q single nucleotide polymorphism was determined as 99.29% and the thymine allele frequency was 0.71%, thymine-thymine, thymine-adenine, and adenine-adenine genotype frequencies of the TLR2 A-16934T single nucleotide polymorphism were 24.3%, 44.3%, and 31.4%. The thymine allele frequency for the TLR2 A-16934T single nucleotide polymorphism in the atopic dermatitis group was 46.43%, and the adenine allele frequency was 53.57%, respectively. There was not statistically significant difference between the groups for all investigated polymorphisms (p>0.05). For all single nucleotide polymorphisms studied, allelic distribution was analogous among atopic dermatitis patients and controls, and no significant statistical difference was observed. No homozygous carriers of the TLR2 R753Q single nucleotide polymorphism were found in the atopic dermatitis and control groups. Conclusion: The TLR2 (R753Q and A-16934T) single nucleotide polymorphisms are not associated with atopic dermatitis in a group of Turkish patients. PMID:28443596

Lack of Association Between Toll-like Receptor 2 Polymorphisms (R753Q and A-16934T) and Atopic Dermatitis in Children from Thrace Region of Turkey.

PubMed

Can, Ceren; Yazıcıoğlu, Mehtap; Gürkan, Hakan; Tozkır, Hilmi; Görgülü, Adnan; Süt, Necdet Hilmi

2017-05-05

Atopic dermatitis is the most common chronic inflammatory skin disease. A complex interaction of both genetic and environmental factors is thought to contribute to the disease. To evaluate whether single nucleotide polymorphisms in the TLR2 gene c.2258C>T (R753Q) (rs5743708) and TLR2 c.-148+1614T>A (A-16934T) (rs4696480) (NM_0032643) are associated with atopic dermatitis in Turkish children. Case-control study. The study was conducted on 70 Turkish children with atopic dermatitis aged 0.5-18 years. The clinical severity of atopic dermatitis was evaluated by the severity scoring of atopic dermatitis index. Serum total IgE levels, specific IgE antibodies to inhalant and food allergens were measured in both atopic dermatitis patients and controls, skin prick tests were done on 70 children with atopic dermatitis. Genotyping for TLR2 (R753Q and A-16934T) single nucleotide polymorphisms was performed in both atopic dermatitis patients and controls. Cytosine-cytosine and cytosin-thymine genotype frequencies of the TLR2 R753Q single nucleotide polymorphism in the atopic dermatitis group were determined as being 98.6% and 1.4%, cytosine allele frequency for TLR2 R753Q single nucleotide polymorphism was determined as 99.29% and the thymine allele frequency was 0.71%, thymine-thymine, thymine-adenine, and adenine-adenine genotype frequencies of the TLR2 A-16934T single nucleotide polymorphism were 24.3%, 44.3%, and 31.4%. The thymine allele frequency for the TLR2 A-16934T single nucleotide polymorphism in the atopic dermatitis group was 46.43%, and the adenine allele frequency was 53.57%, respectively. There was not statistically significant difference between the groups for all investigated polymorphisms (p>0.05). For all single nucleotide polymorphisms studied, allelic distribution was analogous among atopic dermatitis patients and controls, and no significant statistical difference was observed. No homozygous carriers of the TLR2 R753Q single nucleotide polymorphism were found in the atopic dermatitis and control groups. The TLR2 (R753Q and A-16934T) single nucleotide polymorphisms are not associated with atopic dermatitis in a group of Turkish patients.

Sensitivity of self-reported opioid use in case-control studies: Healthy individuals versus hospitalized patients.

PubMed

Rashidian, Hamideh; Hadji, Maryam; Marzban, Maryam; Gholipour, Mahin; Rahimi-Movaghar, Afarin; Kamangar, Farin; Malekzadeh, Reza; Weiderpass, Elisabete; Rezaianzadeh, Abbas; Moradi, Abdolvahab; Babhadi-Ashar, Nima; Ghiasvand, Reza; Khavari-Daneshvar, Hossein; Haghdoost, Ali Akbar; Zendehdel, Kazem

2017-01-01

Several case-control studies have shown associations between the risk of different cancers and self-reported opium use. Inquiring into relatively sensitive issues, such as the history of drug use, is usually prone to information bias. However, in order to justify the findings of these types of studies, we have to quantify the level of such a negative bias. In current study, we aimed to evaluate sensitivity of self-reported opioid use and suggest suitable types of control groups for case-control studies on opioid use and the risk of cancer. In order to compare the validity of the self-reported opioid use, we cross-validated the response of two groups of subjects 1) 178 hospitalized patients and 2) 186 healthy individuals with the results of their tests using urine rapid drug screen (URDS) and thin layer chromatography (TLC). The questioners were asked by trained interviewers to maximize the validity of responses; healthy individuals were selected from the companions of patients in hospitals. Self-reported regular opioid use was 36.5% in hospitalized patients 19.3% in healthy individuals (p-value> 0.001).The reported frequencies of opioid use in the past 72 hours were 21.4% and 11.8% in hospitalized patients and healthy individuals respectively. Comparing their responses with the results of urine tests showed a sensitivity of 77% and 69% among hospitalized patients and healthy individuals for self-reports (p-value = 0.4). Having corrected based on the mentioned sensitivities; the frequency of opioid regular use was 47% and 28% in hospitalized patients and healthy individuals, respectively. Regular opioid use among hospitalized patients was significantly higher than in healthy individuals (p-value> 0.001). Our findings showed that the level of opioid use under-reporting in hospitalized patients and healthy individuals was considerable but comparable. In addition, the frequency of regular opioid use among hospitalized patients was significantly higher than that in the general population. Altogether, it seems that, without corrections for these differences and biases, the results of many studies including case-control studies on opioid use might distort findings substantially.

Sensitivity of self-reported opioid use in case-control studies: Healthy individuals versus hospitalized patients

PubMed Central

Rashidian, Hamideh; Hadji, Maryam; Marzban, Maryam; Gholipour, Mahin; Rahimi-Movaghar, Afarin; Kamangar, Farin; Malekzadeh, Reza; Weiderpass, Elisabete; Rezaianzadeh, Abbas; Moradi, Abdolvahab; Babhadi-Ashar, Nima; Ghiasvand, Reza; Khavari-Daneshvar, Hossein; Haghdoost, Ali Akbar; Zendehdel, Kazem

2017-01-01

Background Several case-control studies have shown associations between the risk of different cancers and self-reported opium use. Inquiring into relatively sensitive issues, such as the history of drug use, is usually prone to information bias. However, in order to justify the findings of these types of studies, we have to quantify the level of such a negative bias. In current study, we aimed to evaluate sensitivity of self-reported opioid use and suggest suitable types of control groups for case-control studies on opioid use and the risk of cancer. Methods In order to compare the validity of the self-reported opioid use, we cross-validated the response of two groups of subjects 1) 178 hospitalized patients and 2) 186 healthy individuals with the results of their tests using urine rapid drug screen (URDS) and thin layer chromatography (TLC). The questioners were asked by trained interviewers to maximize the validity of responses; healthy individuals were selected from the companions of patients in hospitals. Results Self-reported regular opioid use was 36.5% in hospitalized patients 19.3% in healthy individuals (p-value> 0.001).The reported frequencies of opioid use in the past 72 hours were 21.4% and 11.8% in hospitalized patients and healthy individuals respectively. Comparing their responses with the results of urine tests showed a sensitivity of 77% and 69% among hospitalized patients and healthy individuals for self-reports (p-value = 0.4). Having corrected based on the mentioned sensitivities; the frequency of opioid regular use was 47% and 28% in hospitalized patients and healthy individuals, respectively. Regular opioid use among hospitalized patients was significantly higher than in healthy individuals (p-value> 0.001). Conclusion Our findings showed that the level of opioid use under-reporting in hospitalized patients and healthy individuals was considerable but comparable. In addition, the frequency of regular opioid use among hospitalized patients was significantly higher than that in the general population. Altogether, it seems that, without corrections for these differences and biases, the results of many studies including case-control studies on opioid use might distort findings substantially. PMID:28854228

Longitudinal Study of New and Prevalent Use of Self-Monitoring of Blood Glucose

PubMed Central

Karter, Andrew J.; Parker, Melissa M.; Moffet, Howard H.; Spence, Michele M.; Chan, James; Ettner, Susan L.; Selby, Joe V.

2008-01-01

OBJECTIVE We sought to assess longitudinal association between self-monitoring of blood glucose (SMBG) and glycemic control in diabetic patients from an integrated health plan (Kaiser Permanente Northern California). RESEARCH DESIGN AND METHODS Longitudinal analyses of glycemic control among 1) 16,091 patients initiating SMBG (new-user cohort) and 2) 15,347 ongoing users of SMBG (prevalent-user cohort). SMBG frequency was based on pharmacy use (number of blood glucose test strips dispensed), and glycemic control was based on HbA1c (A1C). In the new-user cohort, ANCOVA models (pre- and posttest design) were used to assess the effect of initiating SMBG. In the prevalent-user cohort, repeated-measure, mixed-effects models with random-intercept and time-dependent covariates were used to assess changes in SMBG and A1C. All models were stratified by therapy (no medications, oral agents only, or insulin) and adjusted for baseline A1C, sociodemographics, insulin injection frequency, comorbidity index, medication adherence, smoking status, health care use, and provider specialty. RESULTS Greater SMBG practice frequency among new users was associated with a graded decrease in A1C (relative to nonusers) regardless of diabetes therapy (P < 0.0001). Changes in SMBG frequency among prevalent users were associated with an inverse graded change in A1C only among pharmacologically treated patients (P < 0.0001). CONCLUSIONS These observational findings are consistent with short-term benefits of initiating SMBG practice for all patients but continuing benefits only for pharmacologically treated patients. Differences in effectiveness between new versus prevalent users of SMBG have implications for guideline development and interpretation of observational outcomes data. PMID:16873776

Effect of Postprandial Administration of Esomeprazole on Reflux Symptoms in Gastroesophageal Reflux Disease: A Randomized, Controlled Trial.

PubMed

Boltin, Doron; Zvidi, Ibrahim; Raskin, Maria; Kayless, Hen; Schmilovitz-Weiss, Hemda; Gingold-Belfer, Rachel; Niv, Yaron; Dickman, Ram

2018-05-23

Esomeprazole is commonly administered with food; however, clinical data to support this practice are lacking. We aimed to determine the effect of postprandial ingestion of esomeprazole on reflux symptoms among patients with gastroesophageal reflux disease (GERD). Consecutive patients with GERD adequately controlled with esomeprazole 40 mg daily, entered a 2-week lead-in period during which esomeprazole was administered 30 min before breakfast. Patients were then randomized to continue preprandial ingestion or to ingest esomeprazole following a standardized meal. Outcomes included GERD frequency and severity indices, GERD-health-related quality of life (GERD-HRQL) questionnaire and Short Form 36 (SF-36). Thirty-two patients (17 [53.1%] men, aged 53.5 ± 17.2 years) were included, and 16 (50%) switched to postprandial ingestion of esomeprazole. GERD frequency and severity decreased in both groups (Δ9.0 ± 7.2 vs. Δ10.0 ± 8.1, p = 0.29; Δ6.6 ± 6.8 vs. Δ10.2 ± 7.4, p = 0.57 in postprandial group vs. controls, for frequency and severity, respectively). GERD-HRQL improved in both study groups to a similar degree (Δ10.7 ± 10.5 vs. Δ10.0 ± 13.8, p = 0.97). All SF-36 subscores increased in both groups to a similar degree. In a mixed linear model, there were no differences between the study groups in the changes observed in GERD frequency (p = 0.49), severity (p = 0.32), and GERD-HRQL (p = 0.98) during the study period. Switching to postprandial administration of esomeprazole is not associated with deterioration in reflux symptoms among patients with GERD. Esomeprazole seems to remain efficacious when administered after meals. © 2018 S. Karger AG, Basel.

Fas and Fas ligand gene polymorphisms in Turkish patients with Familial Mediterranean Fever.

PubMed

Ozel, Emine Gulce; Duran, Gulay Gulbol; Celik, Muhammet Murat; Duran, Nizami; Gunesacar, Ramazan

2017-08-05

Familial Mediterranean Fever (FMF) is an autosomal recessive autoinflammatory disorder characterized by recurrent fever, serositis, abdominal pain, arthritis, arthralgia and erysipelas like erythema. Fas and Fas ligand molecules play a central role in the apoptosis signaling of various cell types including neutrophils. Neutrophils are the major cell population involved in acute inflammation in patients with FMF and the role of Fas and Fas ligand molecules in this cells of FMF patients may be crucial. Therefore, in the present study, we aimed to investigate whether the Fas cell surface receptor gene (FAS); NM_000043.5: c.-671A>G (rs1800682, MvaI) and Fas ligand gene (FASLG), NM_000639.2: c.-844C>T (rs763110, BsrD1) functional polymorphisms in patients with FMF and their relation to the main clinical features of the disease. The polymorphisms in the promoter regions of FAS c.-671A>G and FASLG c.-844C>T were investigated in 97 non-related FMF patients and 70 non-related healthy controls by using PCR-RFLP technique. The frequencies of FAS c-671AG genotype and G allele were not significantly different between FMF patients and healthy subjects. The frequency of FASLG -844TC genotype was found significantly different between the patients with FMF and healthy controls whereas T or C allele frequency was not significantly different between the groups. Haplotype frequencies of the studied polymorphisms were also not significantly different between FMF patients and controls. There were no correlations between the studied FAS c.-671A>G and FASLG c.-844C>T polymorphisms and the main clinical features of FMF such as fever, arthritis, abdominal and chest pain, arthralgia and erysipelas-like erythema. Our findings suggest that FAS c.-671AG genotype or G allele and FASLG c.-844 allele are not to be a risk factor, whereas FASLG c.-844TC genotype may be protective in the studied Turkish population. According to our results we may suggest that although not statistically significant, higher frequencies of FASLG c.-844CC genotype in FMF patients may be related to delayed apoptosis of neutrophils and ultimately cause neutrophilic inflammation by increasing FASLG expression. Copyright © 2017 Elsevier B.V. All rights reserved.

Extended high frequency audiometry can diagnose sub-clinic involvement in a seemingly normal hearing systemic lupus erythematosus population.

PubMed

Lasso de la Vega, Mar; Villarreal, Ithzel María; López Moya, Julio; García-Berrocal, José Ramón

2017-02-01

Sensorineural hearing loss must be considered within the clinical picture of systemic lupus erythematosus. The results confirm the usefulness of extended high-frequency audiometry in the audiologic testing of these patients, enabling the possibility of modifying or applying a preventive treatment for a possible hearing loss. Hearing involvement is usually under-diagnosed with routine auditory examination. This study proposes the use of extended high-frequency audiometry to achieve a correct detection of a possible asymptomatic hypoacusis in early stages of the disease. The aim of this study is to analyze the hearing levels in extended high-frequencies in these patients and to correlate the hearing loss with the severity of the disease and the immunological parameters. A descriptive cross-sectional study was performed. Fifty-five patients with systemic lupus erythematosus were included in the study. The control group consisted of 71 patients paired by age and sex with the study population. Both a pure tone audiometry and an extended high-frequency audiometry (8-18 KHz) were performed. In total, 70% were diagnosed with sensorineural hearing loss with extended high-frequency audiometry, overcoming the results obtained with pure tone audiometry (30.9%). Statistically significant correlations were found within the patients regarding sensorineural hearing loss related with age, disease activity and cryoglobulinemia.

The −174G/C and −572G/C Interleukin 6 Promoter Gene Polymorphisms in Mexican Patients with Rheumatoid Arthritis: A Case-Control Study

PubMed Central

Zavaleta-Muñiz, S. A.; Martín-Márquez, B. T.; Gonzalez-Lopez, L.; Gonzalez-Montoya, N. G.; Díaz-Toscano, M. L.; Ponce-Guarneros, J. M.; Ruiz-Padilla, A. J.; Mercado, M. Vázquez-Del; Maldonado-González, M.; Fafutis-Morris, M.; Flores-Martínez, S. E.; Martínez-García, E. A.; Gamez-Nava, J. I.

2013-01-01

Objective. There is a lack of information about the genotype frequencies of IL-6 −174G/C and −572G/C polymorphisms in Mexicans with rheumatoid arthritis (RA). Therefore, the aim of this study was to evaluate the association of the IL-6 −174G/C and −572G/C polymorphisms in Mexican mestizo with RA. Methods. We included 137 patients with RA and 102 healthy controls. Patients were assessed for clinical characteristics. IL-6 −174G/C and −572G/C polymorphisms were genotyped using PCR-RFLP analysis. Allele and genotype frequencies and the Hardy-Weinberg equilibrium were computed. Odds ratios (ORs) were computed to identify the risk for RA associated with the presence of GG genotype in comparison with the GC or CC genotypes. Results. The genotype −174GG occurred at a higher frequency in cases and controls (77.4% versus 78.4%, P = 0.845). We found similar results for the genotype −572GG (54% in patients versus 60.8% in controls, P = 0.295). Conclusions. This is the first study to evaluate the association of −174G/C and −572G/C polymorphisms of the IL-6 gene with RA in Mexican mestizo patients. These two polymorphisms were not associated with RA in the studied sample. Additional studies are required to evaluate if these IL-6 polymorphisms have relevance to the development of more severe disease. PMID:24223608

Angiotensin converting enzyme DD genotype is associated with development of rheumatic heart disease in Egyptian children.

PubMed

Morsy, Mohamed-Mofeed Fawaz; Abdelaziz, Nada Abdelmohsen Mohamed; Boghdady, Ahmed Mohamed; Ahmed, Hydi; Abu Elfadl, Essam Mohamed; Ismail, Mohamed Ali

2011-01-01

Angiotensin converting enzyme (ACE) gene polymorphism was previously studied in some cardiovascular diseases. There are only few studies which investigated this polymorphism in patients with rheumatic heart disease (RHD). The results of these investigations are inconsistent. Furthermore, gene polymorphism distribution is different in various ethnic populations. We conducted this study to demonstrate this gene polymorphism in Egyptian children with RHD. Leukocytes DNA was extracted from 139 patients with RHD and 79 healthy control children. After amplification by the PCR, the products were separated by electrophoresis in 6% polyacrylamide gel and visualized after ethidium bromide staining with UV light. The PCR product is a 190-bp fragment in the absence of the insertion (D allele) and a 490-bp fragment in the presence of the insertion (I allele). Gene polymorphism was as follows: DD gene when lane contains only 190-bp fragment, II gene when lane contains only 490-bp fragment and ID gene when lane contains both fragments. We found that gene polymorphism in both control and patients groups followed the following order of distribution from highest to lowest: ID, II, DD gene. The frequency in control group was 49.4, 36.7, and 13.9%, respectively. In patients groups, the gene frequency was 42.5, 30.9, and 26.6%, respectively. DD gene frequency differs significantly between the two groups. We concluded that patients with RHD have a higher ACE-DD genotype than normal control. ACE-DD genotype may be a risk factor for RHD in Egyptian children.

Postoperative Foot Massage for Patients after Caesarean Delivery.

PubMed

Xue, M; Fan, L; Ge, L N; Zhang, Y; Ge, J L; Gu, J; Wang, Y; Chen, Y

2016-08-01

Little evidence is available on complementary therapies for anxiety and pain relief after caesarean delivery. The purpose of this study was to evaluate the effects of foot massage post-operatively in patients after caesarean delivery. 70 patients were divided to the study or control group after cesarean delivery. Patients in the study group had foot massages for 20 min after surgery. All patients underwent heart rate variability analysis (HRV) and scored their anxiety; pain intensity was evaluated using an 11-point numerical rating scale (NRS). In the study group the HRV, as measured by the low frequency power (LF) value and the LF-to-high frequency power (LF/HF) ratio during Holter assessment, was significantly less after foot massage intervention, but was not changed in the control group. Moreover, the HF value significantly increased and the anxiety score significantly decreased after foot massage intervention, but not in the control group. The pain intensity score obtained 60 min after the massage was significantly lower in the study group than the control group, as were the vital signs (respiratory rate, and systolic and diastolic blood pressure). Post-operative massage intervention can reduce anxiety and pain in patients after caesarean delivery. © Georg Thieme Verlag KG Stuttgart · New York.

Increased risks of venous thromboembolism in patients with psoriasis. A Nationwide Cohort Study.

PubMed

Chung, Wei-Sheng; Lin, Cheng-Li

2017-07-26

Systemic inflammation and hypercoagulability in psoriasis are related to cardiovascular morbidity. The aim of the study was to investigate the incidence and risk of venous thromboembolism (VTE) in patients with psoriasis in Taiwan. We identified inpatients aged ≥ 18 years with a diagnosis of psoriasis and controls at a 1: 1 ratio of frequency matched by sex, age, frequency of medical visits, length of stay, and comorbidities between 2000 and 2010 in the Taiwan National Health Insurance Research Database. Each patient was traced to the date of VTE occurrence, loss to follow-up, death, or the December 31, 2011, whichever occurred first. We analysed 8945 patients with psoriasis and 8945 controls. The patients with psoriasis exhibited a greater incidence rate of VTE (19.2 vs 9.88 per 10 000 person-years) than did the controls. After adjustment for covariates, the patients with psoriasis presented a 2.02-fold risk of VTE (adjusted hazard ratio [aHR] = 2.02, 95 % confidence interval [CI] = 1.42-2.88) compared with that in the control cohort. The aHR of VTE was significantly higher in the first year of follow-up (aHR = 3.30, 95 % CI = 1.45-7.55) than after one year (aHR = 1.68, 95 % CI = 1.13-2.49).

Effectiveness of incentive spirometry in patients following thoracotomy and lung resection including those at high risk for developing pulmonary complications.

PubMed

Agostini, Paula; Naidu, Babu; Cieslik, Hayley; Steyn, Richard; Rajesh, Pala Babu; Bishay, Ehab; Kalkat, Maninder Singh; Singh, Sally

2013-06-01

Following thoracotomy, patients frequently receive routine respiratory physiotherapy which may include incentive spirometry, a breathing technique characterised by deep breathing performed through a device offering visual feedback. This type of physiotherapy is recommended and considered important in the care of thoracic surgery patients, but high quality evidence for specific interventions such as incentive spirometry remains lacking. 180 patients undergoing thoracotomy and lung resection participated in a prospective single-blind randomised controlled trial. All patients received postoperative breathing exercises, airway clearance and early mobilisation; the control group performed thoracic expansion exercises and the intervention group performed incentive spirometry. No difference was observed between the intervention and control groups in the mean drop in forced expiratory volume in 1 s on postoperative day 4 (40% vs 41%, 95% CI -5.3% to 4.2%, p=0.817), the frequency of postoperative pulmonary complications (PPC) (12.5% vs 15%, 95% CI -7.9% to 12.9%, p=0.803) or in any other secondary outcome measure. A high-risk subgroup (defined by ≥2 independent risk factors; age ≥75 years, American Society of Anaesthesiologists score ≥3, chronic obstructive pulmonary disease (COPD), smoking status, body mass index ≥30) also demonstrated no difference in outcomes, although a larger difference in the frequency of PPC was observed (14% vs 23%) with 95% CIs indicating possible benefit of intervention (-7.4% to 2.6%). Incentive spirometry did not improve overall recovery of lung function, frequency of PPC or length of stay. For patients at higher risk for the development of PPC, in particular those with COPD or current/recent ex-smokers, there were larger observed actual differences in the frequency of PPC in favour of the intervention, indicating that investigations regarding the physiotherapy management of these patients need to be developed further.

Improving motor activity assessment in depression: which sensor placement, analytic strategy and diurnal time frame are most powerful in distinguishing patients from controls and monitoring treatment effects.

PubMed

Reichert, Markus; Lutz, Alexander; Deuschle, Michael; Gilles, Maria; Hill, Holger; Limberger, Matthias F; Ebner-Priemer, Ulrich W

2015-01-01

Abnormalities in motor activity represent a central feature in major depressive disorder. However, measurement issues are poorly understood, limiting the use of objective measurement of motor activity for diagnostics and treatment monitoring. To improve measurement issues, especially sensor placement, analytic strategies and diurnal effects, we assessed motor activity in depressed patients at the beginning (MD; n=27) and after anti-depressive treatment (MD-post; n=18) as well as in healthy controls (HC; n=16) using wrist- and chest-worn accelerometers. We performed multiple analyses regarding sensor placements, extracted features, diurnal variation, motion patterns and posture to clarify which parameters are most powerful in distinguishing patients from controls and monitoring treatment effects. Whereas most feature-placement combinations revealed significant differences between groups, acceleration (wrist) distinguished MD from HC (d=1.39) best. Frequency (vertical axis chest) additionally differentiated groups in a logistic regression model (R2=0.54). Accordingly, both amplitude (d=1.16) and frequency (d=1.04) showed alterations, indicating reduced and decelerated motor activity. Differences between MD and HC in gestures (d=0.97) and walking (d=1.53) were found by data analysis from the wrist sensor. Comparison of motor activity at the beginning and after MD-treatment largely confirms our findings. Sample size was small, but sufficient for the given effect sizes. Comparison of depressed in-patients with non-hospitalized controls might have limited motor activity differences between groups. Measurement of wrist-acceleration can be recommended as a basic technique to capture motor activity in depressed patients as it records whole body movement and gestures. Detailed analyses showed differences in amplitude and frequency denoting that depressed patients walked less and slower.

Contribution of human growth hormone-releasing hormone receptor (GHRHR) gene sequence variation to isolated severe growth hormone deficiency (ISGHD) and normal adult height.

PubMed

Camats, Núria; Fernández-Cancio, Mónica; Carrascosa, Antonio; Andaluz, Pilar; Albisu, M Ángeles; Clemente, María; Gussinyé, Miquel; Yeste, Diego; Audí, Laura

2012-10-01

Molecular causes of isolated severe growth hormone deficiency (ISGHD) in several genes have been established. The aim of this study was to analyse the contribution of growth hormone-releasing hormone receptor (GHRHR) gene sequence variation to GH deficiency in a series of prepubertal ISGHD patients and to normal adult height. A systematic GHRHR gene sequence analysis was performed in 69 ISGHD patients and 60 normal adult height controls (NAHC). Four GHRHR single-nucleotide polymorphisms (SNPs) were genotyped in 248 additional NAHC. An analysis was performed on individual SNPs and combined genotype associations with diagnosis in ISGHD patients and with height-SDS in NAHC. Twenty-one SNPs were found. P3, P13, P15 and P20 had not been previously described. Patients and controls shared 12 SNPs (P1, P2, P4-P11, P16 and P21). Significantly different frequencies of the heterozygous genotype and alternate allele were detected in P9 (exon 4, rs4988498) and P12 (intron 6, rs35609199); P9 heterozygous genotype frequencies were similar in patients and the shortest control group (heights between -2 and -1 SDS) and significantly different in controls (heights between -1 and +2 SDS). GHRHR P9 together with 4 GH1 SNP genotypes contributed to 6·2% of height-SDS variation in the entire 308 NAHC. This study established the GHRHR gene sequence variation map in ISGHD patients and NAHC. No evidence of GHRHR mutation contribution to ISGHD was found in this population, although P9 and P12 SNP frequencies were significantly different between ISGHD and NAHC. Thus, the gene sequence may contribute to normal adult height, as demonstrated in NAHC. © 2012 Blackwell Publishing Ltd.

Improving Motor Activity Assessment in Depression: Which Sensor Placement, Analytic Strategy and Diurnal Time Frame Are Most Powerful in Distinguishing Patients from Controls and Monitoring Treatment Effects

PubMed Central

Deuschle, Michael; Gilles, Maria; Hill, Holger; Limberger, Matthias F.; Ebner-Priemer, Ulrich W.

2015-01-01

Background Abnormalities in motor activity represent a central feature in major depressive disorder. However, measurement issues are poorly understood, limiting the use of objective measurement of motor activity for diagnostics and treatment monitoring. Methods To improve measurement issues, especially sensor placement, analytic strategies and diurnal effects, we assessed motor activity in depressed patients at the beginning (MD; n=27) and after anti-depressive treatment (MD-post; n=18) as well as in healthy controls (HC; n=16) using wrist- and chest-worn accelerometers. We performed multiple analyses regarding sensor placements, extracted features, diurnal variation, motion patterns and posture to clarify which parameters are most powerful in distinguishing patients from controls and monitoring treatment effects. Results Whereas most feature-placement combinations revealed significant differences between groups, acceleration (wrist) distinguished MD from HC (d=1.39) best. Frequency (vertical axis chest) additionally differentiated groups in a logistic regression model (R2=0.54). Accordingly, both amplitude (d=1.16) and frequency (d=1.04) showed alterations, indicating reduced and decelerated motor activity. Differences between MD and HC in gestures (d=0.97) and walking (d=1.53) were found by data analysis from the wrist sensor. Comparison of motor activity at the beginning and after MD-treatment largely confirms our findings. Limitations Sample size was small, but sufficient for the given effect sizes. Comparison of depressed in-patients with non-hospitalized controls might have limited motor activity differences between groups. Conclusions Measurement of wrist-acceleration can be recommended as a basic technique to capture motor activity in depressed patients as it records whole body movement and gestures. Detailed analyses showed differences in amplitude and frequency denoting that depressed patients walked less and slower. PMID:25885258

Increased cancer risk of heterozygotes with NBS1 germline mutations in Poland.

PubMed

Steffen, Jan; Varon, Raymonda; Mosor, Maria; Maneva, Galina; Maurer, Martin; Stumm, Markus; Nowakowska, Dorota; Rubach, Maryna; Kosakowska, Ewa; Ruka, Włodzimierz; Nowecki, Zbigniew; Rutkowski, Piotr; Demkow, Tomasz; Sadowska, Małgorzata; Bidziński, Mariusz; Gawrychowski, Krzysztof; Sperling, Karl

2004-08-10

It has been suggested based on familial data that Nijmegen breakage syndrome (NBS) heterozygotes have an increased risk of malignant tumors. We found 15 carriers of the 657del5 mutation and 8 carriers of the R215W molecular variant of the NBS1 gene among 1,289 consecutive patients from Central Poland with various cancers and only 10 and 4 such carriers, respectively, in 1,620 controls from this region. Most of the 657del5 mutation carriers were found among patients with melanoma (4/105), non-Hodgkin lymphoma (2/42) and breast cancer (4/224) and of the 234 patients with colorectal carcinoma 3 carried the 657del5 mutation and 3 others the R215W molecular variant. The frequencies of 657del5 mutation carriers among patients with melanoma and non-Hodgkin lymphoma and of R215W carriers in patients with colorectal cancer were significantly higher than in controls (p < 0.01, < 0.05 and < 0.05 respectively). The pooled frequencies of 657del5 and R215W mutations in all cancer patients were also significantly higher than in controls (p < 0.05). Two carriers of the 657del5 mutation had second primary tumors. Malignant tumors among parents and siblings of 657del5 mutation carriers (14/77) were twice more frequent than in population controls. Three carriers of this mutation (2 probands with melanoma) reported melanoma in relatives. These results suggest strongly that NBS1 heterozygosity may be associated with elevated risk of some cancers. Larger studies are needed to evaluate the impact of the high frequency of germline NBS1 mutations on the cancer burden in the Slav populations. Copyright 2004 Wiley-Liss, Inc.

A search for association between schizophrenia and dopamine-related alleles.

PubMed

Jönsson, E; Brené, S; Geijer, T; Terenius, L; Tylec, A; Persson, M L; Sedvall, G

1996-01-01

Dopamine receptor dysfunction and altered tyrosine hydroxylase activity have both been implicated in the pathophysiology of schizophrenia. Schizophrenic patients and control subjects were examined for allele frequencies in the tyrosine hydroxylase and dopamine D2 and D4 receptor genes. No significant differences of allele or genotype frequencies were found between the two groups after adjustment for multiple comparisons. Neither were any significant relationships observed between allele frequencies and a number of clinical variables within the schizophrenic subsample. When no adjustment was made for multiple testing a few significant tendencies were obtained which warrant further research in extended patient and control materials. The results are compatible with the view that the tyrosine hydroxylase, dopamine receptor D2 and D4 gene polymorphisms examined are not of major importance in the aetiology or pathophysiology of schizophrenia.

IL2RA Allele Increases Risk of Neuromyelitis Optica in Southern Han Chinese.

PubMed

Dai, Yongqiang; Li, Jin; Zhong, Xiaonan; Wang, Yuge; Qiu, Wei; Lu, Zhengqi; Wu, Aimin; Bao, Jian; Peng, Fuhua; Hu, Xueqiang

2013-11-01

Neuromyelitis optica (NMO) and multiple sclerosis (MS) are chronic neuro-inflammatory diseases believed to arise from complex interactions between environmental and genetic factors. Recently, single nucleotide polymorphisms (SNPs) in interleukin (IL)-2 and -7 receptor alpha genes have been identified as novel susceptibility alleles for MS in genome-wide association studies. However, similar research on NMO is limited. We aimed to investigate the association of IL2RA SNPs rs2104286 and rs12722489 and IL7RA SNP rs6897932 with Southern Han Chinese NMO and MS patients. Frequencies of the three SNPs were examined in Southern Han Chinese mS cases (n=78), NMS cases (n=67) and controls (n=133) using sequencing-based typing. The rs2104286(G) frequency in the IL2RA gene was significantly higher in NMO patients than in controls (p(uncorr)=0.013, p(corr)=0.026, OR:1.942, 95%CI:1.146-3.291). The rs2104286 G allele in IL2RA is present at higher frequencies in NMO patients than in healthy controls within a Southern Han Chinese population. Les allèles IL2RA augmentent le risque de neuromyélite optique chez les Chinois Han du sud.

Functional connectivity changes detected with magnetoencephalography after mild traumatic brain injury

PubMed Central

Dimitriadis, Stavros I.; Zouridakis, George; Rezaie, Roozbeh; Babajani-Feremi, Abbas; Papanicolaou, Andrew C.

2015-01-01

Mild traumatic brain injury (mTBI) may affect normal cognition and behavior by disrupting the functional connectivity networks that mediate efficient communication among brain regions. In this study, we analyzed brain connectivity profiles from resting state Magnetoencephalographic (MEG) recordings obtained from 31 mTBI patients and 55 normal controls. We used phase-locking value estimates to compute functional connectivity graphs to quantify frequency-specific couplings between sensors at various frequency bands. Overall, normal controls showed a dense network of strong local connections and a limited number of long-range connections that accounted for approximately 20% of all connections, whereas mTBI patients showed networks characterized by weak local connections and strong long-range connections that accounted for more than 60% of all connections. Comparison of the two distinct general patterns at different frequencies using a tensor representation for the connectivity graphs and tensor subspace analysis for optimal feature extraction showed that mTBI patients could be separated from normal controls with 100% classification accuracy in the alpha band. These encouraging findings support the hypothesis that MEG-based functional connectivity patterns may be used as biomarkers that can provide more accurate diagnoses, help guide treatment, and monitor effectiveness of intervention in mTBI. PMID:26640764

Lucid dreaming in narcolepsy.

PubMed

Dodet, Pauline; Chavez, Mario; Leu-Semenescu, Smaranda; Golmard, Jean-Louis; Arnulf, Isabelle

2015-03-01

To evaluate the frequency, determinants and sleep characteristics of lucid dreaming in narcolepsy. University hospital sleep disorder unit. Case-control study. Consecutive patients with narcolepsy and healthy controls. Participants were interviewed regarding the frequency and determinants of lucid dreaming. Twelve narcolepsy patients and 5 controls who self-identified as frequent lucid dreamers underwent nighttime and daytime sleep monitoring after being given instructions regarding how to give an eye signal when lucid. Compared to 53 healthy controls, the 53 narcolepsy patients reported more frequent dream recall, nightmares and recurrent dreams. Lucid dreaming was achieved by 77.4% of narcoleptic patients and 49.1% of controls (P < 0.05), with an average of 7.6±11 vs. 0.3±0.8 lucid dreams/ month (P < 0.0001). The frequency of cataplexy, hallucinations, sleep paralysis, dyssomnia, HLA positivity, and the severity of sleepiness were similar in narcolepsy with and without lucid dreaming. Seven of 12 narcoleptic (and 0 non-narcoleptic) lucid dreamers achieved lucid REM sleep across a total of 33 naps, including 14 episodes with eye signal. The delta power in the electrode average, in delta, theta, and alpha powers in C4, and coherences between frontal electrodes were lower in lucid than non-lucid REM sleep in spectral EEG analysis. The duration of REM sleep was longer, the REM sleep onset latency tended to be shorter, and the percentage of atonia tended to be higher in lucid vs. non-lucid REM sleep; the arousal index and REM density and amplitude were unchanged. Narcolepsy is a novel, easy model for studying lucid dreaming. © 2015 Associated Professional Sleep Societies, LLC.

Patient training in respiratory-gated radiotherapy

DOE Office of Scientific and Technical Information (OSTI.GOV)

Kini, Vijay R.; Vedam, Subrahmanya S.; Keall, Paul J.

2003-03-31

Respiratory gating is used to counter the effects of organ motion during radiotherapy for chest tumors. The effects of variations in patient breathing patterns during a single treatment and from day to day are unknown. We evaluated the feasibility of using patient training tools and their effect on the breathing cycle regularity and reproducibility during respiratory-gated radiotherapy. To monitor respiratory patterns, we used a component of a commercially available respiratory-gated radiotherapy system (Real Time Position Management (RPM) System, Varian Oncology Systems, Palo Alto, CA 94304). This passive marker video tracking system consists of reflective markers placed on the patient's chestmore » or abdomen, which are detected by a wall-mounted video camera. Software installed on a PC interfaced to this camera detects the marker motion digitally and records it. The marker position as a function of time serves as the motion signal that may be used to trigger imaging or treatment. The training tools used were audio prompting and visual feedback, with free breathing as a control. The audio prompting method used instructions to 'breathe in' or 'breathe out' at periodic intervals deduced from patients' own breathing patterns. In the visual feedback method, patients were shown a real-time trace of their abdominal wall motion due to breathing. Using this, they were asked to maintain a constant amplitude of motion. Motion traces of the abdominal wall were recorded for each patient for various maneuvers. Free breathing showed a variable amplitude and frequency. Audio prompting resulted in a reproducible frequency; however, the variability and the magnitude of amplitude increased. Visual feedback gave a better control over the amplitude but showed minor variations in frequency. We concluded that training improves the reproducibility of amplitude and frequency of patient breathing cycles. This may increase the accuracy of respiratory-gated radiation therapy.« less

The frequency and severity of metabolic acidosis related to topiramate.

PubMed

Türe, Hatice; Keskin, Özgül; Çakır, Ülkem; Aykut Bingöl, Canan; Türe, Uğur

2016-12-01

Objective We planned a cross-sectional analysis to determine the frequency and severity of metabolic acidosis in patients taking topiramate while awaiting craniotomy. Methods Eighty patients (18 - 65 years) taking topiramate to control seizures while awaiting elective craniotomy were enrolled. Any signs of metabolic acidosis or topiramate-related side effects were investigated. Blood chemistry levels and arterial blood gases, including lactate, were obtained. The severity of metabolic acidosis was defined according to base excess levels as mild or moderate. Results Blood gas analysis showed that 71% ( n = 57) of patients had metabolic acidosis. The frequency of moderate metabolic acidosis was 56% ( n = 45), while that of mild metabolic acidosis was 15% ( n = 12). A high respiratory rate was reported in only 10% of moderately acidotic patients. Conclusions In patients receiving topiramate, baseline blood gas analysis should be performed preoperatively to determine the presence and severity of metabolic acidosis.

Association of methylenetetrahydrofolate reductase (MTHFR 677C>T) and thymidylate synthase (TSER and TS 1494del6) polymorphisms with premature ovarian failure in Korean women.

PubMed

Rah, HyungChul; Jeon, Young Joo; Choi, Youngsok; Shim, Sung Han; Yoon, Tae Ki; Choi, Dong Hee; Cha, Sun Hee; Kim, Nam Keun

2012-11-01

The aim of our study was to investigate whether methylenetetrahydrofolate reductase (MTHFR) gene variant (MTHFR 677C>T) and thymidylate synthase (TS) gene variants (TS enhancer region [TSER] and TS 1494del6) confer a risk for premature ovarian failure (POF). We genotyped 136 POF patients and 236 controls among Korean women for the three single nucleotide polymorphism sites using polymerase chain reaction restriction fragment length polymorphism analysis. Differences in the MTHFR 677C>T, TSER, and TS 1494del6 genotype frequencies between POF patients and controls were compared, and odds ratios (ORs) and 95% CIs were determined as a measure of the strength of the association between genotypes and POF. The MTHFR 677CT and CT + TT variant genotypes were more frequent in POF patients than in controls (OR, 2.249; 95% CI, 1.317-3.843; and OR, 2.132; 95% CI, 1.268-3.585, respectively). The combined genotype frequencies of MTHFR 677CT + TT/TSER 3R3R and 677CT + TT/TS 1494del6 del6/del6 were higher in patients than in controls (OR, 2.300; 95% CI, 1.219-4.337; and OR, 3.314; 95% CI, 1.623-6.767, respectively). The T-3R-del6 and T-2R-del6 (MTHFR 677C>T/TSER/TS 1494del6) haplotypes were more frequent in patients (OR, 1.450; 95% CI, 1.050-2.002; and OR, 2.911; 95% CI, 1.191-7.117, respectively), whereas the C-2R-del6 haplotype was less frequent in patients (OR, 0.372; 95% CI, 0.152-0.912). The T-del6 (MTHFR 677/TS 1494del6) haplotype frequency was higher among patients (OR, 1.653; 95% CI, 1.206-2.266), whereas the C-del6 haplotype frequency was lower among patients (OR, 0.700; 95% CI, 0.516-0.950). We did not find an association between TSER or TS 1494del6 polymorphisms and POF. Our data suggest that the MTHFR 677T allele may increase the risk for POF, which could lead to the development of novel genetic markers for predicting the risk of POF in patients.

No association between gluten sensitivity and amyotrophic lateral sclerosis.

PubMed

Visser, Anne E; Pazoki, Raha; Pulit, Sara L; van Rheenen, Wouter; Raaphorst, Joost; van der Kooi, Anneke J; Ricaño-Ponce, Isis; Wijmenga, Cisca; Otten, Henny G; Veldink, Jan H; van den Berg, Leonard H

2017-04-01

To examine evidence for a role of gluten sensitivity (GS) or celiac disease (CD) in ALS etiology, we included participants from a population-based case-control study in The Netherlands between January 2006 and December 2015. We compared levels and seroprevalence of IgA antibodies to tissue transglutaminase 6 (TG6) in 359 ALS patients and 359 controls, and to transglutaminase 2 (TG2) and endomysium (EMA) in 199 ALS patients and 199 controls. Questionnaire data on 1829 ALS patients and 3920 controls were examined for CD or gluten-free diets (GFD). Genetic correlation and HLA allele frequencies were analyzed using two genome-wide association studies: one on ALS (12,577 cases, 23,475 controls), and one on CD (4533 cases, 10,750 controls). We found one patient with TG6, TG2 and EMA antibodies who had typical ALS and no symptoms of GS. TG6 antibody concentrations and positivity, CD prevalence and adherence to a GFD were similar in patients and controls (p > 0.66) and in these patients disease progression was compatible with typical ALS. CD and ALS were not found to be genetically correlated (p > 0.37). CD-associated HLA allele frequencies were similar in patients and controls (p > 0.28). In conclusion, we found no serological evidence for involvement of gluten-related antibodies in ALS etiology nor did we observe an association between CD and ALS in medical history or genetic data, indicating that there is no evidence in our data for an association between the two diseases. Hence, a role for a GFD in the ALS treatment seems unlikely.

Smoking, Alcohol, Drug Use, Abuse and Dependence in Narcolepsy and Idiopathic Hypersomnia: A Case-Control Study.

PubMed

Barateau, Lucie; Jaussent, Isabelle; Lopez, Régis; Boutrel, Benjamin; Leu-Semenescu, Smaranda; Arnulf, Isabelle; Dauvilliers, Yves

2016-03-01

Basic experiments support the impact of hypocretin on hyperarousal and motivated state required for increasing drug craving. Our aim was to assess the frequencies of smoking, alcohol and drug use, abuse and dependence in narcolepsy type 1 (NT1, hypocretin-deficient), narcolepsy type 2 (NT2), idiopathic hypersomnia (IH) (non-hypocretin-deficient conditions), in comparison to controls. We hypothesized that NT1 patients would be less vulnerable to drug abuse and addiction compared to other hypersomniac patients and controls from general population. We performed a cross-sectional study in French reference centres for rare hypersomnia diseases and included 450 adult patients (median age 35 years; 41.3% men) with NT1 (n = 243), NT2 (n = 116), IH (n = 91), and 710 adult controls. All participants were evaluated for alcohol consumption, smoking habits, and substance (alcohol and illicit drug) abuse and dependence diagnosis during the past year using the Mini International Neuropsychiatric Interview. An increased proportion of both tobacco and heavy tobacco smokers was found in NT1 compared to controls and other hypersomniacs, despite adjustments for potential confounders. We reported an increased regular and frequent alcohol drinking habit in NT1 versus controls but not compared to other hypersomniacs in adjusted models. In contrast, heavy drinkers were significantly reduced in NT1 versus controls but not compared to other hypersomniacs. The proportion of patients with excessive drug use (codeine, cocaine, and cannabis), substance dependence, or abuse was low in all subgroups, without significant differences between either hypersomnia disorder categories or compared with controls. We first described a low frequency of illicit drug use, dependence, or abuse in patients with central hypersomnia, whether Hcrt-deficient or not, and whether drug-free or medicated, in the same range as in controls. Conversely, heavy drinkers were rare in NT1 compared to controls but not to other hypersomniacs, without any change in alcohol dependence or abuse frequency. Although disruption of hypocretin signaling in rodents reduces drug-seeking behaviors, our results do not support that hypocretin deficiency constitutes a protective factor against the development of drug addiction in humans. © 2016 Associated Professional Sleep Societies, LLC.

Increased frequency of micronuclei in peripheral blood lymphocytes of subjects infected with Helicobacter pylori.

PubMed

Suárez, Susanna; Sueiro, Rosa Ana; Araujo, Manuel; Pardo, Fernanda; Menéndez, M Dolores; Pardiñas, M Carmen; Alvarez, Angel

2007-01-10

Epidemiological studies have demonstrated a close association between infection with Helicobacter pylori and the development of gastric carcinoma and mucosa-associated lymphoid tissue lymphomas in humans. The cytokinesis-block micronucleus assay was performed on peripheral blood lymphocytes of H. pylori-infected patients in order to investigate the possible induction of genotoxic damage. The study group consisted of 70 infected subjects including 33 women and 37 men, and 66 healthy controls (37 females and 29 males). Our results indicate that in the infected group the overall frequency of binucleated micronucleated cells (BNMN) per 1000 cells was higher (17.65+/-1.55) than in the controls (7.39+/-0.66), this difference being statistically significant. No differences were found between the infected and control groups regarding the cytokinesis-block proliferation index (CBPI). When the effect of different counfounding factors was evaluated, mutivariate statistical analysis revealed that age and alcohol consumption modulated the frequency of BNMN in infected people, and the interaction between alcohol use-smoking-infection also affected the BNMN frequency in H. pylori patients. Our results indicate that infection by H. pylori is associated with an increased level of cytogenetic damage in the cells of the host.

Mood disorders in eating disorder patients: Prevalence and chronology of ONSET.

PubMed

Godart, N; Radon, L; Curt, F; Duclos, J; Perdereau, F; Lang, F; Venisse, J L; Halfon, O; Bizouard, P; Loas, G; Corcos, M; Jeammet, Ph; Flament, M F

2015-10-01

In a clinical population, we estimated the frequency of mood disorders among 271 patients suffering from Anorexia Nervosa (AN) and Bulimia Nervosa (BN) in comparison to a control group matched for age and gender. The frequency of mood disorders was measured using the Mini International Neuropsychiatric Interview (MINI), DSM-IV version. Mood disorders were more frequent among eating disorder (ED) patients than among controls, with a global prevalence of the order of 80% for each ED group. The majority of the mood disorders comorbid with ED were depressive disorders (MDD and dysthymia). The relative chronology of onset of these disorders was equivocal, because mood disorders in some cases preceded and in others followed the onset of the eating disorders. Our sample was characterized by patients with severe ED and high comorbidities, and thus do not represent the entire population of AN or BN. This also may have resulted in an overestimation of prevalence. Mood disorders appear significantly more frequently in patients seeking care for ED than in controls. These results have implications for the assessment and treatment of ED patients, and for the aetio-pathogenesis of these disorders. Copyright © 2015 Elsevier B.V. All rights reserved.

Methylphenidate mediated change in prosody is specific to the performance of a cognitive task in female adult ADHD patients.

PubMed

Bloch, Yuval; Aviram, Shai; Neeman, Ronnie; Braw, Yoram; Nitzan, Uriel; Maoz, Hagai; Mimouni-Bloch, Aviva

2015-01-01

Prosody production is highly personalized, related to both the emotional and cognitive state of the speaker and to the task being performed. Fundamental frequency (F main) is a central measurable feature of prosody, associated with having an attention deficit hyperactive disorder (ADHD). Since methylphenidate is an effective therapy for ADHD, we hypothesized that it will affect the fundamental frequency of ADHD patients. The answers of 32 adult ADHD patients were recorded while performing two computerized tasks (cognitive and emotional). Evaluations were performed at baseline and an hour after patients received methylphenidate. A significant effect of methylphenidate was observed on the fundamental frequency, as opposed to other parameters, of prosody. This change was evident while patients performed a cognitive, as opposed to an emotional, task. This change was seen in the 14 female ADHD patients but not in the 18 male ADHD patients. The fundamental frequency while performing a cognitive task without methylphenidate was not different in the female ADHD group, from 22 female controls. This pilot study supports prosodic changes as possible objective and accessible dynamic biological marker of treatment responses specifically in female ADHD.

The impact of antidepressants on seizure frequency and depressive and anxiety disorders of patients with epilepsy: Is it worth investigating?

PubMed

Ribot, Ramses; Ouyang, Bichun; Kanner, Andres M

2017-05-01

Depression and anxiety disorders in patients with epilepsy (PWE) remain under-recognized and under-treated, despite being the most common psychiatric co-morbidities. Selective serotonin re-uptake inhibitors (SSRIs) and serotonin-norepinephrine reuptake inhibitors (SNRIs) are considered first-line treatment for primary depression and anxiety disorders. We performed this study to investigate if SSRIs and SNRIs could affect the seizure frequency of PWE and to assess whether such effect is independent of the response of the mood and anxiety disorders to these drugs. This was a retrospective study of 100 consecutive PWE who were started on an SSRI or SNRI for the treatment of a depressive and/or anxiety disorder. Every patient underwent a psychiatric evaluation by one of the investigators using a semi-structured interview who also managed the pharmacologic treatment in all the patients. Patients were excluded if they had a diagnosis of psychogenic non-epileptic seizures or if they had undergone epilepsy surgery or the implant of the vagal nerve stimulator six months before and after the start of the antidepressant therapy. The final analysis was conducted in 84 patients. For each type of seizure, an average and maximal monthly seizure frequency during the six months preceding and following the start of psychotropic drugs was extracted from the medical records. We identified the number of patients whose seizure frequency during treatment with antidepressants: (i) shifted from a <1/month to a ≥1 seizure/month and vice-versa, (ii) increased beyond maximal/monthly baseline frequency, and (iii) patients who developed de-novo generalized tonic-clonic (GTC) seizures. None of the patients with a baseline seizure frequency <1seizure/month went on to have ≥1seizure/month after initiating treatment with antidepressants, had an increase in frequency beyond baseline maximal counts or developed de-novo-GTC seizures. Furthermore, there was no seizure recurrence among patients that had been seizure-free. Among the patients with a baseline seizure frequency ≥1/month, 27.5% had a reduction in seizure frequency to <1/month, which suggested a positive effect of SSRI/SNRI on seizure frequency (p=0.001, McNemar test). Among the patients with a baseline seizure frequency ≥1seizure/month, 48% exhibited a >50% reduction in seizure frequency after the start of treatment with SSRIs or SNRIs. A therapeutic response to SSRIs and SNRIs was found in 73% of patients. The change in seizure frequency was independent of the improvement in psychiatric symptomatology. In this retrospective observational study, SSRIs or SNRIs did not appear to worsen seizure frequency. Also, in patients with frequent seizures, SSRIs and SNRIs may be associated with a possible decrease in seizure frequency. Furthermore, these drugs appear to yield good therapeutic response of psychiatric symptoms independently of seizure frequency. It is pivotal to replicate these data in prospective, double-blind, placebo-controlled trials. Copyright © 2017 Elsevier Inc. All rights reserved.

Characterization of CD4+ T cell-mediated cytotoxicity in patients with multiple myeloma.

PubMed

Zhang, Xiaole; Gao, Lei; Meng, Kai; Han, Chunting; Li, Qiang; Feng, Zhenjun; Chen, Lei

2018-05-01

Multiple myeloma (MM) is an incurable cancer characterized by the development of malignant plasma cells. The CD8 T cell-mediated cytotoxicity is considered a major player in antitumor immunity, but in MM patients, the CD8 T cells displayed senescence markers and were functionally impaired. To investigate whether cytotoxic CD4 T cells could act as a treatment alternative in MM, we examined the frequency and function of naturally occurring cytotoxic CD4 T cells in MM patients. The cytotoxic CD4 T cells were identified as granzyme-A, granzyme B-, and perforin-expressing CD4 T cells, and their frequencies were significantly upregulated in MM patients when compared with healthy controls. The frequencies of cytotoxic CD4 T cells in MM patients were not associated with the frequencies of cytotoxic CD8 T cells, but were negatively associated with disease severity. Interestingly, the expression levels of inhibitory molecules, including PD-1 and CTLA-4, were significantly lower in cytotoxic CD4 T cells than in cytotoxic CD8 T cells. When co-incubated with autologous CD38 + CD138 + plasma cells, CD4 T cells were capable of eliminating plasma cells with varying degrees of efficacy. In MM patients, the frequency of circulating plasma cells was negatively correlated with the frequency of cytotoxic CD4 T cells. Therefore, CD4 T cell-mediated cytotoxicity existed naturally in MM patients and could potentially act as an option in antitumor therapies. Copyright © 2018 Elsevier Inc. All rights reserved.

HLA-B27 antigen frequency among suspected Spondyloarthropathy patients attaining a tertiary level hospital of Bangladesh.

PubMed

Nessa, A; Tabassum, S; Sultana, S

2014-12-01

Human leukocyte antigen B27 (HLA-B27), a class I molecules of the major histocompatibility complex has a strong disease association with different types of spondarthropathies (SpA). The strength of this disease association varies markedly among racial and ethnic populations. The present study aimed to identify the HLA-B27 antigen frequencies among suspected SpA patients as well as healthy Bangladeshi individuals. The frequency of HLA-B27 was determined in 1500 patients and 1000 healthy subjects attending the Bangabandhu Sheikh Mujib Medical University (BSMMU). HLA-B 27 typing was done by microlymphocytotoxicity test using commercial kit. A total of 738 (49.2%) suspected SpA patients and 107 (10.7%) healthy subjects tested positive for HLA-B27 antigen with higher frequency among younger age groups (54.9%, 52.4% and 56.2% in 0-14 years, 15-24 years and 25-34 years of age respectively). The male female positivity was almost same (11.4% and 9.6%) among control group, but in patient group it was 53.0% and 41.2% respectively. The findings of this hospital based study showed a high frequency of HLA-B27 among suspected SpA patients with male preponderance which is comparable with neighboring countries.

Noninvasive pulsed radio frequency energy in the treatment of occipital neuralgia with chronic, debilitating headache: a report of four cases.

PubMed

Stall, Robert S

2013-05-01

To examine the effects of noninvasive pulsed radio frequency energy (PRFE) on recurrent migraine headache associated with occipital neuralgia. Four patients who were receiving long-term treatment with repeated greater and lesser occipital nerve blocks (GLONBs) to control recurrent migraine resistant to other treatment underwent treatment with noninvasive PRFE at home as a substitute for GLONB treatment. PRFE was administered by the patient at home for 30 minutes twice daily through an applicator pad placed directly over the occiput and upper cervical spine. Three of four patients reported a decrease in frequency, severity, or both of nonprostrating and prostrating migraines compared with their baseline symptoms; one reported no change from baseline. Comparing PRFE results with those obtained after nerve blocks, three of four patients reported decreases in nonprostrating migraines, while two reported a decrease in prostrating migraines. One patient reported an increase in prostrating migraine frequency. Variable degrees of increased productivity, decreased opioid and nonopioid analgesic use, and decreased visits to urgent care clinics were noted. In two patients who had combined PRFE and GLONB, marked improvement was noted in all symptoms. Improvement in frequency of headaches was noted, especially when PRFE was combined with GLONB. Further study is warranted. Wiley Periodicals, Inc.

Major depressive disorder discrimination using vocal acoustic features.

PubMed

Taguchi, Takaya; Tachikawa, Hirokazu; Nemoto, Kiyotaka; Suzuki, Masayuki; Nagano, Toru; Tachibana, Ryuki; Nishimura, Masafumi; Arai, Tetsuaki

2018-01-01

The voice carries various information produced by vibrations of the vocal cords and the vocal tract. Though many studies have reported a relationship between vocal acoustic features and depression, including mel-frequency cepstrum coefficients (MFCCs) which applied to speech recognition, there have been few studies in which acoustic features allowed discrimination of patients with depressive disorder. Vocal acoustic features as biomarker of depression could make differential diagnosis of patients with depressive state. In order to achieve differential diagnosis of depression, in this preliminary study, we examined whether vocal acoustic features could allow discrimination between depressive patients and healthy controls. Subjects were 36 patients who met the criteria for major depressive disorder and 36 healthy controls with no current or past psychiatric disorders. Voices of reading out digits before and after verbal fluency task were recorded. Voices were analyzed using OpenSMILE. The extracted acoustic features, including MFCCs, were used for group comparison and discriminant analysis between patients and controls. The second dimension of MFCC (MFCC 2) was significantly different between groups and allowed the discrimination between patients and controls with a sensitivity of 77.8% and a specificity of 86.1%. The difference in MFCC 2 between the two groups reflected an energy difference of frequency around 2000-3000Hz. The MFCC 2 was significantly different between depressive patients and controls. This feature could be a useful biomarker to detect major depressive disorder. Sample size was relatively small. Psychotropics could have a confounding effect on voice. Copyright © 2017 Elsevier B.V. All rights reserved.

Interleukin-10 -1082 promoter polymorphism and gastric cancer risk in a Chinese Han population.

PubMed

Zhou, Yong; Hu, Wen; Zhuang, Wen; Wu, Xiaoting

2011-01-01

Studies investigating the association between interleukin-10 (IL-10) -1082 promoter polymorphism and gastric cancer risk report conflicting results. Our recent meta-analysis suggests that the IL-10 -1082 promoter polymorphism may be associated with gastric cancer among Asians. The objective of this study was to investigate the association between IL-10 -1082 promoter polymorphism and gastric cancer risk in Chinese Han patients. We extracted the peripheral blood samples in 150 patients with gastric cancer and 150 controls. PCR-RFLP analysis was performed to detect IL-10 -1082 promoter polymorphism in these patients. Patients with gastric cancer had a significantly lower frequency of AA (OR = 0.45, 95% CI = 0.27, 0.76; P = 0.003) than controls. Patients with cardia gastric cancer had a significantly higher frequency of GG (OR = 2.17, 95% CI = 1.08, 4.38; P = 0.03) than those with noncardia gastric cancer. Patients with advanced gastric cancer had a significantly higher frequency of AA (OR = 5.21, 95% CI = 1.71, 15.87; P = 0.004) than those with early gastric cancer. When stratified by the Lauren's classification, histological differentiation of gastric cancer, no statistically significant results were observed. This study suggests that the IL-10 -1082 promoter polymorphism may be associated with gastric cancer in Chinese Han patients, and that difference in genotype distribution may be associated with the location and stage of gastric cancer.

[Analysis of HLA haplotype frequency and linkage disequilibrium in patients with acute lymphoblastic leukemia from Northern Chinese Han].

PubMed

Gao, Su-qing; Cheng, Liang-hong; Lu, Liang; Jing, Shi-zheng; Cheng, Xi; Zhang, Yin-ze; Zou, Hong-yan; Deng, Zhi-hui

2009-02-01

To analyze the difference between the frequencies of HLA-A-B, B-DRB1 and A-B-DRB1 haplotype, as well as their linkage disequilibrium pattern in patients with acute lymphoblastic leukemia(ALL) and healthy controls from Northern Chinese Han. The frequencies of HLA-A-B, B-DRB1, A-B-DR haplotypes and linkage disequilibrium were estimated by Expectation Maximization method based on the genotypes of 643 patients with ALL and 2 0359 unrelated healthy donors, and the statistical significance between the two groups were estimated by chi-square test. Linkage disequilibrium was analyzed with population genetic methods. The most common HLA-A-B, B-DRB1, and A-B-DR haplotypes were A30-B13, A2-B46, A33-B58, B13-DR7, B46-DR9, B52-DR15, B58-DR17, A30-B13-DR7, A33-B58-DR17 and A1-B37-DR10 in both groups. The frequencies of A30-B13, A2-B46, A33-B44, B13-DR7, A30-B13-DR7 and A2-B46-DR9 haplotypes and linkage disequilibrium value were significantly decreased (P<0.05) in the patient group than that in the control group. On the other hand, the frequencies of A2-B52, A31-B61, A24- B8, B60-DR9, B27-DR4, B52-DR14, B44-DR17, B27-DR12 and A11-B27-DR12 haplotypes and linkage disequilibrium value were significantly increased (P<0.05) in the patient group than that in the control group. There are some common and positive linkage disequilibrium haplotypes in both the ALL patients and the healthy donors in Northern Chinese Han. Interestingly, some haplotypes and their linkage disequilibrium patterns had significantly different distributions between the two groups. The study provided basic data for the relationship of ALL and HLA haplotype and for finding the HLA-A, B, DR matching donors.

Increased Force Variability Is Associated with Altered Modulation of the Motorneuron Pool Activity in Autism Spectrum Disorder (ASD)

PubMed Central

Wang, Zheng; Kwon, MinHyuk; Mohanty, Suman; Schmitt, Lauren M.; White, Stormi P.; Christou, Evangelos A.; Mosconi, Matthew W.

2017-01-01

Force control deficits have been repeatedly documented in autism spectrum disorder (ASD). They are associated with worse social and daily living skill impairments in patients suggesting that developing a more mechanistic understanding of the central and peripheral processes that cause them may help guide the development of treatments that improve multiple outcomes in ASD. The neuromuscular mechanisms underlying force control deficits are not yet understood. Seventeen individuals with ASD and 14 matched healthy controls completed an isometric index finger abduction test at 60% of their maximum voluntary contraction (MVC) during recording of the first dorsal interosseous (FDI) muscle to determine the neuromuscular processes associated with sustained force variability. Central modulation of the motorneuron pool activation of the FDI muscle was evaluated at delta (0–4 Hz), alpha (4–10 Hz), beta (10–35 Hz) and gamma (35–60 Hz) frequency bands. ASD patients showed greater force variability than controls when attempting to maintain a constant force. Relative to controls, patients also showed increased central modulation of the motorneuron pool at beta and gamma bands. For controls, reduced force variability was associated with reduced delta frequency modulation of the motorneuron pool activity of the FDI muscle and increased modulation at beta and gamma bands. In contrast, delta, beta, and gamma frequency oscillations were not associated with force variability in ASD. These findings suggest that alterations of central mechanisms that control motorneuron pool firing may underlie the common and often impairing symptoms of ASD. PMID:28346344

High Prevalence of Laryngopharyngeal Reflux Disease in Patients With Lumbar Kyphosis.

PubMed

Matsuzaki, Hiroumi; Makiyama, Kiyoshi; Hoshino, Masahiro; Oshima, Takeshi

2016-11-01

To evaluate the relationship between laryngopharyngeal reflux disease and presence of lumbar kyphosis. A cross-sectional study. We included 20 patients with lumbar kyphosis and 31 control subjects. A diagnosis of laryngopharyngeal reflux disease and gastroesophageal reflux disease was made if the Reflux Symptom Index score was ≥13 and if the Frequency Scale for the Symptoms of Gastroesophageal Reflux Disease was ≥8, respectively. We compared the prevalence of the two reflux diseases, frequent reflux symptoms, and demographic factors between the two groups. There was no significant difference in demographic factors between the two groups. Five (25%) of 20 patients with lumbar kyphosis had a Reflux Symptom Index ≥13 compared with one (3.2%) of 31 controls. Seven (35.0%) of 20 patients had a Frequency Scale for the Symptoms of Gastroesophageal Reflux Disease ≥8 compared with three (9.7%) of 31 controls. A comparison of the prevalence of laryngopharyngeal reflux disease and gastroesophageal reflux disease showed a significant difference between patients with kyphosis and controls (P value = 0.029 and 0.036, respectively). In Reflux Symptom Index, heartburn, hoarseness, and a swallowing problem were significantly frequent symptoms in the kyphosis group compared with the control group. The prevalence of laryngopharyngeal reflux disease and gastroesophageal reflux disease was significantly higher in patients with lumbar kyphosis than in controls. Therefore, otolaryngologists and orthopedic surgeons should be aware that patients with lumbar kyphosis are likely to have gastroesophageal reflux disease and also laryngopharyngeal reflux disease. Copyright © 2016 The Voice Foundation. Published by Elsevier Inc. All rights reserved.

[The effectiveness of early rehabilitation of the patients presenting with ischemic stroke].

PubMed

Kulishova, T V; Shinkorenko, O V

2014-01-01

In this paper we evaluate the clinical effectiveness of rehabilitation of 92 patients who survived after acute ischemic stroke and received the combined treatment with the use of transcranial magnetic stimulation (the study group, n=32). The first control group (n=30) included the patients given transcranial magnetic stimulation in the function of placebo (n=30) and the second control group was comprised of the patients who received low-frequency magnetic therapy (n=30). The course of transcranial magnetic stimulation (TMS) resulted in the significant regression of the locomotor deficiency in the patients of the study group compared with those in both control groups (χ2>3,8). In addition, a significant decrease in anxiety and depression was documented in the patients of the study group. Dynamics of these characteristics in the patients of the control groups group was significantly less pronounced (χ2>3,8). The well apparent improvement of the cognitive function evaluated with the help of the MMSE test was observed in the patients of the study group and control group 2, but this effect of transcranial magnetic stimulation was significantly more pronounced than that of low-frequency magnetic therapy (χ2>3,8). Transcranial magnetic stimulation significantly normalized cerebral hemodynamics on the side of the stroke-affected hemisphere and improved the daily activities of the patients. Studying the long-term results within 6 months after the onset of rehabilitation in the hospital environment, most patients rated their health with improving. The evaluation of long-term results of the treatment during the 6 month rehabilitation period demonstrated that the majority of the patients reported the marked improvement of their health status.

Association analysis of FAS-670A/G and FASL-844C/T polymorphisms with risk of generalized aggressive periodontitis disease.

PubMed

Asgari, Rezvan; Yari, Kheirollah; Mansouri, Kamran; Bakhtiari, Mitra

2018-04-01

The interaction of FAS/FAS ligand (FASL) serves an important role in the upregulation of apoptotic processes through different mechanisms in cells. Previous studies have established that the polymorphisms FAS -670A/G and FASL -844C/T are associated with risk of generalized aggressive periodontitis (GAP) in different ethnic populations. Therefore, in the present study, it was investigated for the first time whether FAS -670A/G and FASL -844C/T polymorphisms were associated with risk of GAP in Iran. This case-control study performed the polymerase chain reaction-restriction fragment length polymorphism method in 25 patients with GAP and 110 normal subjects as controls. The results indicated that there was no significant difference in FAS -670A/G genotype frequency between the GAP and control groups. A higher frequency of the combined genotype (AG+GG) was observed in the GAP patients (96.0%) compared with the control subjects (90.9%), though this was not significant [χ 2 =0.705, degrees of freedom (df)=1, P=0.401]. Similarly, the prevalence of the G allele was non-significantly higher in the GAP group (62.0%) compared with that in the controls (60.0%; χ 2 =0.012, df=1, P=0.913). For FASL-844C/T polymorphism, the frequency of the combined genotype (CT+TT) was higher in the GAP group (96.0%) when compared with the control subjects (91.8%); however its association was not statistically significant (χ 2 =0.519, df=1, P=0.471). The frequency of the T allele only marginally differed between the groups, being 60.0% in the GAP group and 50.9% in the controls (χ 2 =3.627, df=1, P=0.057). These results indicated that there were no significant associations between the FAS -670A/G and FASL -844C/T polymorphisms and the risk of disease in GAP patients when compared with normal individuals.

Tremor associated with focal and segmental dystonia.

PubMed

Rudzińska, M; Krawczyk, M; Wójcik-Pędziwiatr, M; Szczudlik, A; Wasielewska, A

2013-01-01

Tremor occurs in 10-85% of patients with focal dystonia as so-called dystonic tremor or tremor associated with dystonia. The aim of this study was to assess the incidence and to characterize parameters of tremor accompanying focal and segmental dystonia. One hundred and twenty-three patients with diagnosis of focal and segmental dystonia together with 51 healthy controls were included in the study. For each participant, clinical examination and objective assessment (accelerometer, electromyography, graphic tablet) of hand tremor was performed. Frequency and severity of tremor were assessed in three positions: at rest (rest tremor); with hands extended (postural tremor); during 'finger-to-nose' test and during Archimedes spiral drawing (kinetic tremor). Based on the mass load test, type of tremor was determined as essential tremor type or enhanced physiological type. The incidence of tremor was significantly higher in dystonic patients as compared to controls (p = 0.0001). In clinical examination, tremor was found in 50% of dystonic patients, and in instrumental assessment in an additional 10-20%. The most frequent type of tremor was postural and kinetic tremor with 7 Hz frequency and featured essential tremor type. In the control group, tremor was detected in about 10% of subjects as 9-Hz postural tremor of enhanced physiological tremor type. No differences were found between patients with different types of dystonia with respect to the tremor incidence, type and parameters (frequency and severity). No correlations between tremor severity and dystonia severity were found either.

Analysis of R213R and 13494 g-->a polymorphisms of the p53 gene in individuals with esophagitis, intestinal metaplasia of the cardia and Barrett's Esophagus compared with a control group.

PubMed

Pilger, Diogo André; Lopez, Patrícia Luciana da Costa; Segal, Fábio; Leistner-Segal, Sandra

2007-01-01

Protein p53 is the tumor suppressor involved in cell cycle control and apoptosis. There are several polymorphisms reported for p53 which can affect important regions involved in protein tumor suppressor activity. Amongst the polymorphisms described, R213R and 13949 g-->a are rarely studied, with an estimate frequency not yet available for the Brazilian population. The purpose of this study was to investigate the genotype and allele frequencies and associations of these polymorphisms in a group of patients with altered esophageal tissue from South Brazil and compare with the frequency observed for a control population. A total of 35 patients for R213R and 45 for 13494 g-->a polymorphisms analysis with gastroesophageal reflux disease (GERD) symptoms diagnosed by upper digestive endoscopy and confirmed by biopsy were studied. For both groups, 100 controls were used for comparison. Loss of heterozygosity (LOH) was also analyzed for a selected group of patients where normal and affected tissue was available. There was one patient with Barrett's Esophagus (BE) showing LOH for R213R out of two heterozygous samples analyzed and two patients (esophagitis and BE) for 13494 g-->a polymorphism. We also aimed to build a haplotype for both polymorphisms collectively analyzed with R27P polymorphism, previously reported by our group. There were no significant differences in allele and genotype distribution between patients and controls. Although using esophagitis, intestinal metaplasia of the cardia and BE samples, all non-neoplastic lesions, we can conclude that these sites do not represent genetic susceptibility markers for the development and early progression of GERD to BE and esophageal cancer. Additional studies are required in order to investigate other determiners of early premalignant lesions known to predispose to esophageal cancer.

[Features of fractal dynamics EEG of alpha-rhythm in patients with neurotic and neurosis-like disorders].

PubMed

Shul'ts, E V; Baburin, I N; Karavaeva, T A; Karvasarskiĭ, B D; Slezin, V B

2011-01-01

Fifty-five patients with neurotic and neurosis-like disorders and 20 healthy controls, aged 17-64 years, have been examined. The basic research method was electroencephalography (EEG) with the fractal analysis of alpha power fluctuations. In patients, the changes in the fractal structure were of the same direction: the decrease of fractal indexes of low-frequency fluctuations and the increase of fractal indexes of mid-frequency fluctuations. Patients with neurosis-like disorders, in comparison to those with neurotic disorders, were characterized by more expressed (quantitative) changes in fractal structures of more extended character. It suggests the presence of deeper pathological changes in patients with neurosis-like disorders.

A High Frequency of HIV-Specific Circulating Follicular Helper T Cells Is Associated with Preserved Memory B Cell Responses in HIV Controllers.

PubMed

Claireaux, M; Galperin, M; Benati, D; Nouël, A; Mukhopadhyay, M; Klingler, J; de Truchis, P; Zucman, D; Hendou, S; Boufassa, F; Moog, C; Lambotte, O; Chakrabarti, L A

2018-05-08

Follicular helper T cells (Tfh) play an essential role in the affinity maturation of the antibody response by providing help to B cells. To determine whether this CD4 + T cell subset may contribute to the spontaneous control of HIV infection, we analyzed the phenotype and function of circulating Tfh (cTfh) in patients from the ANRS CO21 CODEX cohort who naturally controlled HIV-1 replication to undetectable levels and compared them to treated patients with similarly low viral loads. HIV-specific cTfh (Tet + ), detected by Gag-major histocompatibility complex class II (MHC-II) tetramer labeling in the CD45RA - CXCR5 + CD4 + T cell population, proved more frequent in the controller group ( P = 0.002). The frequency of PD-1 expression in Tet + cTfh was increased in both groups (median, >75%) compared to total cTfh (<30%), but the intensity of PD-1 expression per cell remained higher in the treated patient group ( P = 0.02), pointing to the persistence of abnormal immune activation in treated patients. The function of cTfh, analyzed by the capacity to promote IgG secretion in cocultures with autologous memory B cells, did not show major differences between groups in terms of total IgG production but proved significantly more efficient in the controller group when measuring HIV-specific IgG production. The frequency of Tet + cTfh correlated with HIV-specific IgG production ( R = 0.71 for Gag-specific and R = 0.79 for Env-specific IgG, respectively). Taken together, our findings indicate that key cTfh-B cell interactions are preserved in controlled HIV infection, resulting in potent memory B cell responses that may play an underappreciated role in HIV control. IMPORTANCE The rare patients who spontaneously control HIV replication in the absence of therapy provide a unique model to identify determinants of an effective anti-HIV immune response. HIV controllers show signs of particularly efficient antiviral T cell responses, while their humoral response was until recently considered to play only a minor role in viral control. However, emerging evidence suggests that HIV controllers maintain a significant but "silent" antiviral memory B cell population that can be reactivated upon antigenic stimulation. We report that cTfh help likely contributes to the persistence of controller memory B cell responses, as the frequency of HIV-specific cTfh correlated with the induction of HIV-specific antibodies in functional assays. These findings suggest that T follicular help may contribute to HIV control and highlight the need for inducing such help in HIV vaccine strategies that aim at eliciting persistent B cell responses. Copyright © 2018 Claireaux et al.

Higher risk of cytomegalovirus reactivation in human immunodeficiency virus-1-infected patients homozygous for MICA5.1.

PubMed

Moenkemeyer, Maren; Heiken, Hans; Schmidt, Reinhold E; Witte, Torsten

2009-03-01

Infection with cytomegalovirus (CMV) induces surface expression of major histocompatibility complex (MHC)-class-I-chain-related A (MICA), a ligand for NKG2D. This leads to improved recognition and elimination of infected cells by natural killer (NK) as well as CD8+ T cells. The MICA5.1 allele codes for a truncated protein. This study was performed to test whether impaired expression of a functional MICA protein would influence the susceptibility to severe CMV reactivation in immunocompromised individuals. In this study, the frequency of MICA5.1 was assessed by polymerase chain reaction in 230 Caucasian human immunodeficiency virus (HIV)-1-infected patients and in 219 healthy controls. Patients co-infected with hepatitis C virus (HCV) and GB virus-C served as controls. MICA5.1 allele was analyzed by polymerase chain reaction. Association of MICA5.1 homozygosity and risk of CMV reactivation was calculated by Pearson chi2 test. Comparison of patients with and without a history of CMV disease manifestation revealed that homozygous MICA5.1 genotype was present in a significantly higher frequency in patients with CMV reactivation (33%) than in those without (16%; p 0.032; odds ratio 0.330). The percentage was similar in HIV-1-infected patients and healthy controls. Furthermore, there was no difference in the frequency of MICA5.1 with respect to infection with HCV and GB virus-C. Our study provides the first in vivo demonstration of an association between homozygous MICA5.1 genotype and susceptibility to CMV reactivation in immunocompromised individuals.

Do antipsychotic drugs increase seizure frequency in epilepsy patients?

PubMed

Okazaki, Mitsutoshi; Adachi, Naoto; Akanuma, Nozomi; Hara, Koichiro; Ito, Masumi; Kato, Masaaki; Onuma, Teiichi

2014-11-01

To investigate whether addition of antipsychotic drugs (APD) would increase seizure frequency in epilepsy patients who were already treated with anti-epileptic drugs (AED), we compared a one-year seizure control outcome in 150 epilepsy patients with APD treatment for psychiatric conditions and 309 epilepsy patients without APD treatment matched for ages at epilepsy onset and the baseline evaluation and types of epilepsy. The seizure frequency was recorded at the baseline (immediately before the start of APD) and after the 1st, 3rd, 6th and 12th months. The seizure outcome at each of the four follow-up points was compared with the baseline. The seizure outcome was compared between the two groups as a whole and according to the types of epilepsy (idiopathic generalized and partial epilepsies). In the APD group, the seizure outcome was also analyzed according to the types of APD (first and second generation APD and combination of first and second generation APD) and the types of psychiatric conditions (psychosis and non-psychosis). The seizure outcome was significantly better in the APD group than control group at all the four follow-up points. According to the epilepsy types, the improvement in the seizure outcome was only observed in the patients with partial epilepsy. Of the APD group, there was no significant difference in the seizure outcome according to the types of APD or the psychiatric conditions. In epilepsy patients who are already treated with AED, APD treatment seems safe in seizure control outcome for treatment of psychiatric conditions. Copyright © 2014 Elsevier B.V. and ECNP. All rights reserved.

[Correlation between genetic polymorphisms of -855 G/C and -1140 G/A in GRIN1 gene and paranoid schizophrenia].

PubMed

Li, Zhong-Jie; Ding, Mei; Pang, Hao; Sun, Xue-Fei; Xing, Jia-Xin; Xuan, Jin-Feng; Wang, Bao-Jie

2013-04-01

To investigate the single nucleotide polymorphisms (SNP) of -855 G/C and -1140 G/A in promoter regions of GRIN1 gene and find their genetic correlation to paranoid schizophrenia as well as their applicable values in forensic medicine. The genetic polymorphisms of -855 G/C and -1140 G/A at the 5' end of GRIN1 gene were detected by PCR restriction fragment length polymorphism and PAGE in 183 healthy unrelated individuals of northern Chinese Han population and 172 patients of paranoid schizophrenia, respectively. The chi2 test was used to identify Hardy-Weinberg equilibrium of the genotype distribution. The differences of genotypes and allelic frequency distributions were compared between the two groups. Distributions of the genotypic frequencies satisfied Hardy-Weinberg equilibrium in both groups. The difference of genotypes was statistically significant between female patient group and female control group in -855 G/C distribution (P < 0.05). The differences of genotypes and allelic frequencies were statistically significant not only between the patient group and the control group but also between female patient group and female control group in -1140 G/A distribution (P < 0.05). The SNP of -1140 G/A in promoter regions of GRIN1 gene might positively correlate to paranoid schizophrenia. The genetic factor of schizophrenia is involved in gender tendency. And it could be useful in forensic identification of schizophrenia.

A randomized controlled trial of laparoscopic nissen fundoplication versus proton pump inhibitors for treatment of patients with chronic gastroesophageal reflux disease: One-year follow-up.

PubMed

Anvari, Mehran; Allen, Christopher; Marshall, John; Armstrong, David; Goeree, Ron; Ungar, Wendy; Goldsmith, Charles

2006-12-01

A randomized controlled trial conducted in patients with gastroesophageal reflux disease compared optimized medical therapy using proton pump inhibitor (n = 52) with laparoscopic Nissen fundoplication (n = 52). Patients were monitored for 1 year. The primary end point was frequency of gastroesophageal reflux dis-ease symptoms. Surgical patients had improved symptoms, pH control, and overall quality of life health index after surgery at 1 year compared with the medical group. The overall gastroesophageal reflux disease symptom score at 1 year was unchanged in the medical patients, but improved in the surgical patients. Fourteen patients in the medical arm experienced symptom relapse requiring titration of the proton pump inhibitor dose, but 6 had satisfactory symptom remission. No surgical patients required additional treatment for symptom control. Patients controlled on long-term proton pump inhibitor therapy for chronic gastroesophageal reflux disease are excellent surgical candidates and should experience improved symptom control after surgery at 1 year.

A novel duplication polymorphism in the FANCA promoter and its association with breast and ovarian cancer.

PubMed

Thompson, Ella; Dragovic, Rebecca L; Stephenson, Sally-Anne; Eccles, Diana M; Campbell, Ian G; Dobrovic, Alexander

2005-04-29

The FANCA gene is one of the genes in which mutations lead to Fanconi anaemia, a rare autosomal recessive disorder characterised by congenital abnormalities, bone marrow failure, and predisposition to malignancy. FANCA is also a potential breast and ovarian cancer susceptibility gene. A novel allele was identified which has a tandem duplication of a 13 base pair sequence in the promoter region. We screened germline DNA from 352 breast cancer patients, 390 ovarian cancer patients and 256 normal controls to determine if the presence of either of these two alleles was associated with an increased risk of breast or ovarian cancer. The duplication allele had a frequency of 0.34 in the normal controls. There was a non-significant decrease in the frequency of the duplication allele in breast cancer patients. The frequency of the duplication allele was significantly decreased in ovarian cancer patients. However, when malignant and benign tumours were considered separately, the decrease was only significant in benign tumours. The allele with the tandem duplication does not appear to modify breast cancer risk but may act as a low penetrance protective allele for ovarian cancer.

A novel duplication polymorphism in the FANCA promoter and its association with breast and ovarian cancer

PubMed Central

Thompson, Ella; Dragovic, Rebecca L; Stephenson, Sally-Anne; Eccles, Diana M; Campbell, Ian G; Dobrovic, Alexander

2005-01-01

The FANCA gene is one of the genes in which mutations lead to Fanconi anaemia, a rare autosomal recessive disorder characterised by congenital abnormalities, bone marrow failure, and predisposition to malignancy. FANCA is also a potential breast and ovarian cancer susceptibility gene. A novel allele was identified which has a tandem duplication of a 13 base pair sequence in the promoter region. Methods We screened germline DNA from 352 breast cancer patients, 390 ovarian cancer patients and 256 normal controls to determine if the presence of either of these two alleles was associated with an increased risk of breast or ovarian cancer. Results The duplication allele had a frequency of 0.34 in the normal controls. There was a non-significant decrease in the frequency of the duplication allele in breast cancer patients. The frequency of the duplication allele was significantly decreased in ovarian cancer patients. However, when malignant and benign tumours were considered separately, the decrease was only significant in benign tumours. Conclusion The allele with the tandem duplication does not appear to modify breast cancer risk but may act as a low penetrance protective allele for ovarian cancer. PMID:15860134

Factor V Leiden 1691G/A and prothrombin gene 20210G/A polymorphisms as prothrombotic markers in adult Egyptian acute leukemia patients.

PubMed

El Sissy, Azza Hamdy; El Sissy, Maha H; Elmoamly, Shereef

2014-11-01

Factor V Leiden 1691G/A and prothrombin gene 20210G/A mutations are the most common genetic defects leading to thrombosis. This work aimed to study the FV Leiden and the prothrombin gene polymorphism in adult Egyptian patients with acute leukemia and their importance in thrombophilia screening. The study included 76 patients with acute leukemia and 100 healthy controls. Genotyping was done by real-time polymerase chain reaction technique. For factor V Leiden, the frequency of G/A mutation conferred more than 2.5-fold of increased risk of (OR 2.639 95 % CI 1.045-6.669). The frequency of factor V Leiden combined (G/A + A/A) genotypes conferred 2.83-fold of increased risk (OR 2.828, CI 1.13-7.075), The A allele conferred almost threefold increased risk (OR 2.824, 95 % CI 1.175-6.785). Despite higher frequency in patients compared to controls, there was no risk of association between prothrombin gene mutation and acute leukemia in adult Egyptians nor was there between combined genotypes of prothrombin gene mutation and factor V Leiden.

CD4+ CD25+ CD127low Regulatory T Cells as Indicator of Rheumatoid Arthritis Disease Activity.

PubMed

Khattab, Sahar S; El-Saied, Amany M; Mohammed, Rehab A; Mohamed, Eman E

2016-06-01

Rheumatoid arthritis (RA) is an autoimmune disease characterized by disturbed immune regulation, inducing a progressive cartilage and bone destruction. Despite enrichment of T regulatory cell (T-regs) in synovial fluid, conflicting results are reported concerning T-regs in peripheral blood (PB) of RA patients. To determine possible correlation between the frequency of PB CD4+ CD25+CD127low (T-regs) with RA disease activity. Forty females with RA, classified according to the Disease Activity Score 28 (DAS-28), as highly active, mild-moderate or low disease activity; and 20 age and sex matched healthy controls, were enrolled to study CD4+ CD25+ CD127low T- regs in PB by flow cytometry. Active RA patients had lower frequency of the CD4+ CD25+ CD127low T- regs compared to those with mild-moderate or low disease activity (P <0.001). The frequencies of the T- regs showed negative correlation with the DAS-28 (P<0.01). In conclusion, CD4+ CD25+ CD127low T-regs is significantly lower in highly active RA patients compared to patients with lower activity or controls. Copyright© by the Egyptian Association of Immunologists.

Specific contributions of basal ganglia and cerebellum to the neural tracking of rhythm.

PubMed

Nozaradan, Sylvie; Schwartze, Michael; Obermeier, Christian; Kotz, Sonja A

2017-10-01

How specific brain networks track rhythmic sensory input over time remains a challenge in neuroimaging work. Here we show that subcortical areas, namely the basal ganglia and the cerebellum, specifically contribute to the neural tracking of rhythm. We tested patients with focal lesions in either of these areas and healthy controls by means of electroencephalography (EEG) while they listened to rhythmic sequences known to induce selective neural tracking at a frequency corresponding to the most-often perceived pulse-like beat. Both patients and controls displayed neural responses to the rhythmic sequences. However, these response patterns were different across groups, with patients showing reduced tracking at beat frequency, especially for the more challenging rhythms. In the cerebellar patients, this effect was specific to the rhythm played at a fast tempo, which places high demands on the temporally precise encoding of events. In contrast, basal ganglia patients showed more heterogeneous responses at beat frequency specifically for the most complex rhythm, which requires more internal generation of the beat. These findings provide electrophysiological evidence that these subcortical structures selectively shape the neural representation of rhythm. Moreover, they suggest that the processing of rhythmic auditory input relies on an extended cortico-subcortico-cortical functional network providing specific timing and entrainment sensitivities. Copyright © 2017 Elsevier Ltd. All rights reserved.

Quality of Life in Childhood Epilepsy in pediatric patients enrolled in a prospective, open-label clinical study with cannabidiol.

PubMed

Rosenberg, Evan C; Louik, Jay; Conway, Erin; Devinsky, Orrin; Friedman, Daniel

2017-08-01

Recent clinical trials indicate that cannabidiol (CBD) may reduce seizure frequency in pediatric patients with certain forms of treatment-resistant epilepsy. Many of these patients experience significant impairments in quality of life (QOL) in physical, mental, and social dimensions of health. In this study, we measured the caregiver-reported Quality of Life in Childhood Epilepsy (QOLCE) in a subset of patients enrolled in a prospective, open-label clinical study of CBD. Results from caregivers of 48 patients indicated an 8.2 ± 9.9-point improvement in overall patient QOLCE (p < 0.001) following 12 weeks of CBD. Subscores with improvement included energy/fatigue, memory, control/helplessness, other cognitive functions, social interactions, behavior, and global QOL. These differences were not correlated to changes in seizure frequency or adverse events. The results suggest that CBD may have beneficial effects on patient QOL, distinct from its seizure-reducing effects; however, further studies in placebo-controlled, double-blind trials are necessary to confirm this finding. Wiley Periodicals, Inc. © 2017 International League Against Epilepsy.

[Effects of a training of power and balance on the use of mechanical restraint among in-patients with dementia].

PubMed

Steinert, Tilman; Bohnet, Ulrich; Flammer, Erich; Lüchtenberg, Dietmar; Eisele, Frank

2009-09-01

Patients with dementia are most frequently affected by mechanical restraint in psychiatric hospitals, most frequently due to falls. There is evidence for beneficial effects of a training of power and balance on the frequency of falls in residential homes. An adapted training of power and balance was developed by specialists of training in sports. In 2007, 159 patients with dementia were trained. The frequency and duration of mechanical restraint was compared with a control group of a different hospital (n = 217) and the patients treated in the year before (n = 164). The percentage of patients with mechanical restraint and the mean duration of restraint per admission were significantly lower than in the control group. However, only a non-significant reduction could be achieved in comparison with the patients treated in the year before without an increase of falls. A considerable reduction of the use of mechanical restraint in patients with dementia is feasible. An unequivocal association with the training could not be confirmed due to other influencing factors.

Incidence of Branching Patterns Variations of the Arch in Aortic Dissection in Chinese Patients

PubMed Central

Tapia, G. Pullas; Zhu, Xiaohua; Xu, Jing; Liang, Pan; Su, Gang; Liu, Hai; Liu, Yang; Shu, Liliang; Liu, Shuiqi; Huang, Chen

2015-01-01

Abstract Several authors have described anatomic variations of the aortic arch in 13% to 20% of the patients who do not have aortic disease. However, few studies have evaluated these patterns in the thoracic aortic dissection (TAD). In the authors’ knowledge, this is the first survey that specifically investigates the frequency of these variations in a broad, nonselected group of Chinese patients with aortic dissection. Furthermore, it compares this group with a group of patients without aortic disease. The objective of this study was to define the variation frequency of the aortic arch branches pattern using the tomographic studies of 525 Chinese patients with a diagnosis of TAD. The Stanford classification was used to set the site of the initial tear of the dissection. In addition, we performed an epidemiological analysis of the aortic arch anatomic variations in TAD, and its possible implications for surgical or endovascular treatment. The general hypothesis proposal asserted that Chinese patients with dissection of the aorta have a similar incidence of variations of the aortic arch to the patients without aortic disease. A retrospective study of cases and controls was carried out using the tomographic studies (CT) of all patients admitted to the First Affiliated Hospital of Zhengzhou University, located at Henan-China, with a confirmed diagnosis of aortic dissection from January 2012 until December 2014. The group of cases consisted of 525 patients: 374 men and 151 women, with a mean age of 52.27 years (range, 20–89). The average age of the patients with Stanford A and B aortic dissection was 49.46 and 53.67, respectively. The control group consisted of 525 unselected patients without TAD who underwent a CT scan of the chest due to other indications. This group consisted of 286 men and 239 women, with a mean age of 53.60 years (range, 18–89). All the patients with aneurysm or dissection were excluded from the control group. We performed a statistical analysis of demographic data. The study found 7 different patterns of the aortic arch on both groups of cases and controls. Within the 525 patients with TAD were observed 85 (16.19%) anatomical variations, while the control group showed 112 variations (21.33%); P = 0.033. The most common anatomical variant was the bovine arch, found in 62 (11.80%) cases of TAD compared with 77 (14.66%) in the control group; P = 0.172. Anatomical variations were observed in 14.32% of the patients with Stanford A dissection and 17.09% of the patients with Stanford B dissection; P = 0.425. Patients with Stanford A dissection showed the pattern of bovine arch in 23 (13.21%) of 174 cases. In contrast, the patients with Stanford B dissection showed it in 39 (11.11%) of 351 cases; P = 0.481. The anatomical variant defined as vertebral artery of direct origin of the aortic arch was more frequent in the patients with Stanford B dissection (5.12%). The patients with Stanford A dissection presented this pattern in 1.14% of the cases; P = 0.025. This study observed an increased frequency of aortic dissection in the subgroup from 41 to 60 years old. In the subgroup from 41 to 60 years old without TAD, a greater frequency of anatomical variations were found than in the patients with TAD (20.81% vs 14.23%; P = 0.050). The same fashion was seen in patients older than 80 years (27.27% vs 0%; P = 0.030). The anatomical variations of the aortic arch with TAD occurred in 14.97% of the male patients and 19.20% of the female patients compared to 21.67% to 20.92% in the control group; P = 0.026 and P = 0.681, respectively. The aortic arch variations were found less frequently in the TAD group than in the control group in the present Chinese series. The bovine arch was considered the variant pattern of the major frequency in the patients with TAD and the control group. The anatomical variant of 4 branches, defined as vertebral artery of direct origin of the aortic arch, was more frequent in patients with Stanford B aortic dissection than in the patients with Stanford A. This finding might show an association between the geometry of the aortic arch and the site of onset of first intimal tear of dissection. PMID:25929931

Incidence of branching patterns variations of the arch in aortic dissection in Chinese patients.

PubMed

Tapia, G Pullas; Zhu, Xiaohua; Xu, Jing; Liang, Pan; Su, Gang; Liu, Hai; Liu, Yang; Shu, Liliang; Liu, Shuiqi; Huang, Chen

2015-05-01

Several authors have described anatomic variations of the aortic arch in 13% to 20% of the patients who do not have aortic disease. However, few studies have evaluated these patterns in the thoracic aortic dissection (TAD). In the authors' knowledge, this is the first survey that specifically investigates the frequency of these variations in a broad, nonselected group of Chinese patients with aortic dissection. Furthermore, it compares this group with a group of patients without aortic disease.The objective of this study was to define the variation frequency of the aortic arch branches pattern using the tomographic studies of 525 Chinese patients with a diagnosis of TAD. The Stanford classification was used to set the site of the initial tear of the dissection. In addition, we performed an epidemiological analysis of the aortic arch anatomic variations in TAD, and its possible implications for surgical or endovascular treatment. The general hypothesis proposal asserted that Chinese patients with dissection of the aorta have a similar incidence of variations of the aortic arch to the patients without aortic disease.A retrospective study of cases and controls was carried out using the tomographic studies (CT) of all patients admitted to the First Affiliated Hospital of Zhengzhou University, located at Henan-China, with a confirmed diagnosis of aortic dissection from January 2012 until December 2014. The group of cases consisted of 525 patients: 374 men and 151 women, with a mean age of 52.27 years (range, 20-89). The average age of the patients with Stanford A and B aortic dissection was 49.46 and 53.67, respectively. The control group consisted of 525 unselected patients without TAD who underwent a CT scan of the chest due to other indications. This group consisted of 286 men and 239 women, with a mean age of 53.60 years (range, 18-89). All the patients with aneurysm or dissection were excluded from the control group. We performed a statistical analysis of demographic data.The study found 7 different patterns of the aortic arch on both groups of cases and controls. Within the 525 patients with TAD were observed 85 (16.19%) anatomical variations, while the control group showed 112 variations (21.33%); P = 0.033. The most common anatomical variant was the bovine arch, found in 62 (11.80%) cases of TAD compared with 77 (14.66%) in the control group; P = 0.172. Anatomical variations were observed in 14.32% of the patients with Stanford A dissection and 17.09% of the patients with Stanford B dissection; P = 0.425. Patients with Stanford A dissection showed the pattern of bovine arch in 23 (13.21%) of 174 cases. In contrast, the patients with Stanford B dissection showed it in 39 (11.11%) of 351 cases; P = 0.481. The anatomical variant defined as vertebral artery of direct origin of the aortic arch was more frequent in the patients with Stanford B dissection (5.12%). The patients with Stanford A dissection presented this pattern in 1.14% of the cases; P = 0.025. This study observed an increased frequency of aortic dissection in the subgroup from 41 to 60 years old. In the subgroup from 41 to 60 years old without TAD, a greater frequency of anatomical variations were found than in the patients with TAD (20.81% vs 14.23%; P = 0.050). The same fashion was seen in patients older than 80 years (27.27% vs 0%; P = 0.030). The anatomical variations of the aortic arch with TAD occurred in 14.97% of the male patients and 19.20% of the female patients compared to 21.67% to 20.92% in the control group; P = 0.026 and P = 0.681, respectively.The aortic arch variations were found less frequently in the TAD group than in the control group in the present Chinese series. The bovine arch was considered the variant pattern of the major frequency in the patients with TAD and the control group. The anatomical variant of 4 branches, defined as vertebral artery of direct origin of the aortic arch, was more frequent in patients with Stanford B aortic dissection than in the patients with Stanford A.This finding might show an association between the geometry of the aortic arch and the site of onset of first intimal tear of dissection.

Obesity is the major determinant of the abnormalities in blood pressure found in young women with the polycystic ovary syndrome.

PubMed

Luque-Ramírez, Manuel; Alvarez-Blasco, Francisco; Mendieta-Azcona, Covadonga; Botella-Carretero, José I; Escobar-Morreale, Héctor F

2007-06-01

Obesity and insulin resistance predispose patients with the polycystic ovary syndrome (PCOS) to abnormalities in blood pressure regulation. Our objective was to evaluate the impact of obesity on the blood pressure profiles of PCOS patients. PATIENTS, SETTING, AND DESIGN: Thirty-six PCOS patients and 20 healthy women participated in a case-control study at an academic hospital. We conducted ambulatory blood pressure monitoring and office blood pressure determinations. Hypertension (defined as increased office blood pressure confirmed by ambulatory blood pressure monitoring or by masked hypertension) was present in 12 PCOS patients and eight controls (P = 0.618). No differences between patients and controls were found in office and ambulatory blood pressure monitoring values and heart rate, yet the nocturnal decrease in mean blood pressure was smaller in patients (P = 0.038). Obese women (13 patients and eight controls) had increased frequencies of office hypertension (29% compared with 3% in lean plus overweight women, P = 0.005), increased diastolic (P = 0.009) and mean (P = 0.015) office blood pressure values, and increased heart rate values during the daytime (P = 0.038), nighttime (P = 0.002), and 24-h (P = 0.009) periods, independently of having PCOS or not. The frequency of a nocturnal nondipper pattern was 62% in obese PCOS patients, compared with 26% in lean plus overweight PCOS patients (P = 0.036) and 25% in obese and in lean plus overweight controls. Abnormalities in the regulation of blood pressure are common in young women with PCOS, yet, with the exception of the nondipper pattern, these abnormalities result from the frequent association of this syndrome with obesity.

The effect of individual education on patients' physical activity capacity after myocardial infarction.

PubMed

Uysal, Hilal; Ozcan, Şeyda

2015-02-01

The present study aims to determine the effects of individual education and counselling given to first-time myocardial infarction patients, including its effect on compliance with treatment. The sample comprised 90 patients, 45 in the intervention and 45 in the control group, selected by sequential sampling from first-time myocardial infarction patients. Data were collected between April and November 2008 by means of patient information form, International Physical Activity Questionnaire, 6 min walk test, Modified Borg Scale, Morisky Medication Adherence Scale and Canadian Cardiovascular Society Angina Grade Classification. In the intervention group more improvement was observed in comparison with the control group in terms of frequency of physical activity, body mass index and waist circumference. It was observed that the intervention group's metabolic equivalent of task values and 6 min walk test distance increased more in comparison with the control group 3 months after baseline, and there was a statistically significant difference. The results indicated that individual education and counselling provided to patients having experienced acute myocardial infarction increased functional capacity by providing patients with advice on how to lose weight and by improving compliance with treatment through physical activity behaviours (frequency and duration). © 2013 Wiley Publishing Asia Pty Ltd.

Pulmonary Nontuberculous Mycobacterial Infection. A Multisystem, Multigenic Disease.

PubMed

Szymanski, Eva P; Leung, Janice M; Fowler, Cedar J; Haney, Carissa; Hsu, Amy P; Chen, Fei; Duggal, Priya; Oler, Andrew J; McCormack, Ryan; Podack, Eckhard; Drummond, Rebecca A; Lionakis, Michail S; Browne, Sarah K; Prevots, D Rebecca; Knowles, Michael; Cutting, Gary; Liu, Xinyue; Devine, Scott E; Fraser, Claire M; Tettelin, Hervé; Olivier, Kenneth N; Holland, Steven M

2015-09-01

The clinical features of patients infected with pulmonary nontuberculous mycobacteria (PNTM) are well described, but the genetic components of infection susceptibility are not. To examine genetic variants in patients with PNTM, their unaffected family members, and a control group. Whole-exome sequencing was done on 69 white patients with PNTM and 18 of their white unaffected family members. We performed a candidate gene analysis using immune, cystic fibrosis transmembrance conductance regulator (CFTR), cilia, and connective tissue gene sets. The numbers of patients, family members, and control subjects with variants in each category were compared, as was the average number of variants per person. A significantly higher number of patients with PNTM than the other subjects had low-frequency, protein-affecting variants in immune, CFTR, cilia, and connective tissue categories (35, 26, 90, and 90%, respectively). Patients with PNTM also had significantly more cilia and connective tissue variants per person than did control subjects (2.47 and 2.55 compared with 1.38 and 1.40, respectively; P = 1.4 × 10(-6) and P = 2.7 × 10(-8), respectively). Patients with PNTM had an average of 5.26 variants across all categories (1.98 in control subjects; P = 2.8 × 10(-17)), and they were more likely than control subjects to have variants in multiple categories. We observed similar results for family members without PNTM infection, with the exception of the immune category. Patients with PNTM have more low-frequency, protein-affecting variants in immune, CFTR, cilia, and connective tissue genes than their unaffected family members and control subjects. We propose that PNTM infection is a multigenic disease in which combinations of variants across gene categories, plus environmental exposures, increase susceptibility to the infection.

Implications of ACE (I/D) Gene Variants to the Genetic Susceptibility of Coronary Artery Disease in Asian Indians.

PubMed

Bhatti, G K; Bhatti, J S; Vijayvergiya, R; Singh, B

2017-06-01

Angiotensin-1-converting enzyme (ACE) gene has established substantial attention in the recent years as a candidate gene for hypertension, cardiovascular diseases and type 2 diabetes. The aim of the present study was to investigate the association of ACE (I/D) polymorphism with coronary artery disease (CAD) in a north Indian population. A total of 662 subjects (330 CAD patients and 332 healthy controls) were examined for association of ACE gene (I/D) polymorphism and environmental risk factors. The mean age of the CAD patients and control subjects was 60.53 ± 8.6 years and 56.55 ± 7.7 years, respectively ( p  = 0.000). Anthropometric and demographic data showed BMI values significantly higher among CAD patients and control subjects (26.98 ± 4.9 vs 24.04 ± 4.7, p  = 0.000). We observed pronounced central obesity in both CAD patients and controls, even at the lowest BMI values (<23 kg/m 2 ). Dyslipidemia was highly prevalent in CAD patients compared to control subjects. Genotypic data showed significantly higher frequency of DD genotype in CAD patients than that of control subjects (40 vs 28.3 %). No significant difference was observed in the distribution of ID genotypes between CAD patients and control subjects. Logistic regression analysis of data demonstrate that DD genotype was associated with 1.8 fold increased risk of development of CAD in Asian Indians (OR 1.8; 95 % CI 1.22-2.66; p  = 0.003). The frequency of D allele was significantly higher in CAD patients ( p  = 0.001). No significant difference was observed in the clinical and biochemical characteristics of CAD patients and controls when the data was stratified according to the genotypes of ACE gene. In conclusion, DD genotype of ACE gene may be associated with increased risk of CAD in Asian Indian population.

Tumor necrosis factor-α -308G/A gene polymorphism in Egyptian children with immune thrombocytopenic purpura.

PubMed

El Sissy, Maha H; El Sissy, A H; Elanwary, Sherif

2014-07-01

Immune thrombocytopenic purpura (ITP) is an autoimmune disease characterized by increased platelet destruction. Although the cause of ITP remains unclear, it is accepted that both environmental and genetic factors play an important role in the development of the disease. Children with ITP have a T-helper 1-type cytokine pattern with elevated levels of tumor necrosis factor-alpha (TNF-α) as in most autoimmune diseases. Researchers have shown that polymorphism in the TNF-α gene at position -308 affects gene transcriptions with increased TNF-α production. The current case-control study aimed at detecting the frequency of TNF-α -308G/A gene polymorphism as genetic markers in Egyptian children with ITP, and to clear out their possible role in choosing the treatment protocols of therapy, using PCR restriction fragment length polymorphism assay. Ninety-two ITP patients and 100 age and sex-matched healthy controls were recruited in the study. The results obtained revealed that the frequency of TNF-α -308A/A homotype in ITP patients was significantly higher than that of the controls, and conferred almost six-fold increased risk of ITP acquisition. The polymorphic A allele frequency was significantly higher in ITP patients than in the controls, conferring almost two-fold increased ITP risk. In conclusion, our study suggests the possibility that TNF-α -308 gene polymorphism may contribute to the susceptibility of childhood ITP in Egyptian children.

The Nightly Use of Sodium Oxybate Is Associated with a Reduction in Nocturnal Sleep Disruption: A Double-Blind, Placebo-Controlled Study in Patients with Narcolepsy

PubMed Central

Black, Jed; Pardi, Daniel; Hornfeldt, Carl S.; Inhaber, Neil

2010-01-01

Objective: To further explore the effects of sodium oxybate (SXB) administration on nocturnal sleep in narcolepsy patients during a double-blind, placebo-controlled, parallel group study conducted with 228 adult patients with narcolepsy/cataplexy in the United States, Canada, and Europe. Method: Patients were withdrawn from antidepressants and sedative/hypnotics, and then randomized to receive 4.5, 6, or 9 g SXB or placebo nightly for 8 weeks. Patients receiving 6 and 9 g/night doses were titrated to their final dose in weekly 1.5 g increments, while patients receiving placebo were randomized to undergo a similar mock dose titration. The use of stimulant therapy continued unchanged. Changes in sleep architecture were measured using centrally scored nocturnal polysomnograms. Daily diaries were used to record changes in narcolepsy symptoms and adverse events. Results: Following 8 weeks of SXB treatment, study patients demonstrated significant dose-related increases in the duration of stage 3 and 4 sleep, reaching a median increase of 52.5 minutes in patients receiving 9 g nightly. Compared to placebo-treated patients, delta power was significantly increased in all dose groups. Stage 1 sleep and the frequency of nocturnal awakenings were each significantly decreased at the 6 and 9 g/night doses. The changes in nocturnal sleep coincided with significant decreases in the severity and frequency of narcolepsy symptoms. Conclusions: The nightly administration of SXB to narcolepsy patients significantly impacts measures of slow wave sleep, wake after sleep onset, awakenings, total sleep time, and stage 1 sleep in a dose-related manner. The frequency and severity of narcolepsy symptoms decreased with treatment. Citation: Black J; Pardi D; Hornfeldt CS; Inhaber N. The nightly use of sodium oxybate is associated with a reduction in nocturnal sleep disruption: a double-blind, placebo-controlled study in patients with narcolepsy. J Clin Sleep Med 2010;6(6):596-602. PMID:21206549

Visual outcomes after balanced salt solution infiltration during lenticule separation in small-incision lenticule extraction for myopic astigmatism.

PubMed

Liu, Ting; Zhu, Xiaomin; Chen, Kaijian; Bai, Ji

2017-07-01

To evaluate the refractive outcomes of balanced salt solution infiltration during small-incision lenticule extraction (SMILE).This randomized prospective study enrolled 52 patients (104 eyes) with myopic astigmatism. Patients underwent SMILE to correct the myopic astigmatism in Daping Hospital of the Third Military Medical University between January and July 2013. One eye of each patient received traditional SMILE (control group) and the other received a modified SMILE procedure (liquid infiltration group). The corrected distance visual acuity (CDVA), postoperative uncorrected distance visual acuity (UDVA), refraction, wavefront aberration, intraocular pressure (IOP), modulation transfer function (MTF) cut-off frequency, and objective scattering index (OSI) were evaluated.UDVA in the liquid infiltration group was significantly higher than that in the control group at 1 day postoperatively, but not at 1 month after surgery. Moreover, OSI and MTF cut-off frequency in the liquid infiltration group were higher than those in the control group at early follow-up. However, no significant intergroup difference was observed in the OSI and MTF cut-off frequency at 3 months after surgery. In addition, the predictability was better in the liquid infiltration group than in the control group. The changes of horizontal coma in the liquid infiltration group were lesser than those in the control group. However, no intergroup difference was observed in the reduction of IOP at 1 month after surgery.The modified SMILE procedure results in better visual outcomes than did the traditional SMILE procedure when used for treating myopic astigmatism.

Characterization of CD4 and CD8 T Cell Responses in MuSK Myasthenia Gravis

PubMed Central

Yi, JS; Guidon, A; Sparks, S; Osborne, R; Juel, VC; Massey, JM; Sanders, DB; Weinhold, KJ; Guptill, JT

2014-01-01

Muscle specific tyrosine kinase myasthenia gravis (MuSK MG) is a form of autoimmune MG that predominantly affects women and has unique clinical features, including prominent bulbar weakness, muscle atrophy, and excellent response to therapeutic plasma exchange. Patients with MuSK MG have predominantly IgG4 autoantibodies directed against MuSK on the postsynaptic muscle membrane. Lymphocyte functionality has not been reported in this condition. The goal of this study was to characterize T-cell responses in patients with MuSK MG. Intracellular production of IFN-gamma, TNF-alpha, IL-2, IL-17, and IL-21 by CD4+ and CD8+ T-cells was measured by polychromatic flow cytometry in peripheral blood samples from 11 Musk MG patients and 10 healthy controls. Only one MuSK MG patient was not receiving immunosuppressive therapy. Regulatory T-cells (Treg) were also included in our analysis to determine if changes in T cell function were due to altered Treg frequencies. CD8+ T-cells from MuSK MG patients had higher frequencies of polyfunctional responses than controls, and CD4+ T-cells had higher IL-2, TNF-alpha, and IL-17. MuSK MG patients had a higher percentage of CD4+ T-cells producing combinations of IFN-gamma/IL-2/TNF-gamma, TNF-alpha/IL-2, and IFN-gamma/TNF-alpha. Interestingly, Treg numbers and CD39 expression were not different from control values. MuSK MG patients had increased frequencies of Th1 and Th17 cytokines and were primed for polyfunctional proinflammatory responses that cannot be explained by a defect in Treg function or number. PMID:24378287

[Restriction polymorphism of the proto-oncogene c-Ha-ras-1 in patients with multiple primary malignant neoplasms and non-small-cell lung cancer].

PubMed

Gaspar'ian, A V; Sel'chuk, V Iu; Iakubovskaia, M G; Zborovskaia, I B; Tatosian, A G

1997-01-01

Restriction fragment length polymorphism in the human c-Ha-ras-1 locus, associated with a minisatellite sequence, was examined in 45 multiple primary cancer (MPC) patients, 56 patients with squamous cell lung cancer (SCLC), 21 patients with lung adenocarcinoma (LAC), and 53 individuals having no oncopathology. Southern analysis of cellular DNA revealed the presence of 4 common alleles (with collective allele frequency close to 94% in the control group) and a set of rare alleles. Allele a3, (2.1 kb in size under MspI/HpaII digestion) was shown to be more frequent in the MPC than in the control group. The same tendency was observed in the patients with highly differentiated cell lung cancer. An increased frequency of the a4 allele (2.5 kb under MspI/HpaII digestion) was observed in the patients with adenocarcinomas as well as in the patients with metastases and low levels of tumor tissue differentiation. The elevated frequencies of a3 in the MPC group and of a4 in the LAC patients did not correlate with increased risk of the cancers mentioned above but was associated with type of tumor progression. Previously, it was reported that the mini-satellite sequence within the c-Ha-ras-1 locus possesses enhancer activity. Our data indirectly confirm the hypothesis that the efficiency of minisatellite modulator activity is associated with fragment size.

Prevalence of glutathione S-transferase gene deletions and their effect on sickle cell patients.

PubMed

Sanjay, Pandey; Mani, Mishra Rahasy; Sweta, Pandey; Vineet, Shah; Kumar, Ahuja Rajesh; Renu, Saxena

2012-01-01

Glutathione S-transferase gene deletions are known detoxification agents and cause oxidative damage. Due to the different pathophysiology of anemia in thalassemia and sickle cell disease, there are significant differences in the pathophysiology of iron overload and iron-related complications in these disorders. The aim of this study was to estimate the frequency of the GSTM1 and GSTT1 genotypes in sickle cell disease patients and their effect on iron status. Forty sickle cell anemia and sixty sickle ß-thalassemia patients and 100 controls were evaluated to determine the frequency of GST gene deletions. Complete blood counts were performed by an automated cell analyzer. Hemoglobin F, hemoglobin A, hemoglobin A2 and hemoglobin S were measured and diagnosis of patients was achieved by high performance liquid chromatography with DNA extraction by the phenol-chloroform method. The GST null genotype was determined using multiplex polymerase chain reaction and serum ferritin was measured using an ELISA kit. Statistical analysis was by EpiInfo and GraphPad statistics software. An increased frequency of the GSTT1 null genotype (p-value = 0.05) was seen in the patients. The mean serum ferritin level was higher in patients with the GST genotypes than in controls; this was statistically significant for all genotypes except GSTM1, however the higher levels of serum ferritin were due to blood transfusions in patients. GST deletions do not play a direct role in iron overload of sickle cell patients.

[Atrial fibrillation].

PubMed

Spinar, J; Vítovec, J

2003-09-01

Atrial fibrilation is the most frequent arrhythmia, the occurrence increasing with age and associated diseases. The incidence at the age below 60 years is markedly lower than one per cent, whereas in persons above 80 years of age it exceeds six per cent. The occurrence in patients with heart failure is from 10% (NYHA II) up to 50% (NYHA IV). Atrial fibrillation is classified into that observed for the first time and permanent, respectively, while transient forms include paroxyzmal and persistent atrial fibrillation. The diagnosis is based on ECG recording, while echocardiography is most significant. The therapy includes two basic questions--anticoagulant or anti-aggregation treatment and the control of rhythm or frequency. The anticoagulant therapy should be introduced in all patients, where contraindications are not present, being necessary before every cardioversion, provided atrial fibrillation lasts more than two days. In patients without any heart disease and with a physiological echocardiogram it is possible to administer only anti-aggregation treatment. Cardioversion (the control of rhythm) is recommended to all symptomatic patients, in other cases and especially in older persons the control of frequency is safer and of more advantage. Electrical cardioversion is more effective that a pharmacological treatment, the sinus rhythm is preferably controlled by dofetilid, ibutilid, propafenon and amiodaron. For the control of heart rate beta-blockers, diltiazem, verapamil and digitalis are recommended.

[Increased sympathetic activity assessed by spectral analysis of heart rate variability in patients with CRPS I].

PubMed

Schulze, J; Troeger, C

2010-02-01

The complex regional pain syndrome type I (CRPS I) is a painful neuropathic disorder with an antecedent disproportionate trauma leading to spontaneous pain, hyperalgesia, impaired motor function, swelling, changes in sweating and vascular abnormalities without nerve injury. Whether this syndrome is the result of central or peripheral autonomic dysfunction is still a matter of debate. The purpose of this study was to determine the activity of the sympathetic nervous system in patients with CRPS I by power spectral analysis of heart rate variability. This is a pilot study on 6 patients (mean age 50 years; 4 female, 2 male) diagnosed as suffering from CRPS I and 6 age-matched healthy controls. In the pain-free interval and after taking rest for 5 min, 512 subsequent heart beats were obtained with an ECG standard lead II in the supine and then sitting position. Using an autoregressive model, power spectral densities were calculated for the following frequency bands: <0.040 Hz (very low frequency; VLF), 0.040-0.150 Hz (low frequency; LF) and 0.150-0.4 Hz (high frequency; HF). The sympatho-vagal balance is expressed by the ratio of the low-frequency component (LF) to the high-frequency component (HF) of the power spectrum. Significant differences in the mean LF/HF ratios were found in the patients with CRPS I compared to the healthy controls in the supine position (LF/HF=4.01 vs. LF/HF=1.27; p=0.041). The application of stress by changing to the sitting position even increased that difference (6.72 vs. 1.93). Our results support the hypothesis that the pathogenesis of the early stage CRPS I might be related to an increased sympathetic activity. By assessing the autonomic influence on the heart rate variability in CRPS I patients we could also conclude that this disturbance occurs rather at a central level. Georg Thieme Verlag KG Stuttgart, New York.

[Effect of the frequency of maintenance therapy on patients treated for gingivitis and incipient marginal periodontitis].

PubMed

Rojas, I F; Zepeda, M S; Zúñiga, H P

1990-11-01

The effectiveness of maintenance care program applied at different period of time was evaluate in patients treated for gingivitis and incipiente marginal periodontitis. Fifty six patients were divided in three groups, each one controlled three times (each 2, 4 and 6 months respectively), to evaluate periodontal health. At each control, gingival index and plaque index was registered and patients had profilaxis and reinforcement of dental care instructions. All patients knew and practiced a control plaque control during active treatment. Results demonstrated that maintenance care program applied each 2 months, could get better clinical healthy periodontal conditions, without influence of patient's control plaque. Those patients with good hygiene could provide for an acceptable level of periodontal health even in patients controlled each 4 and 6 months. Positive correlations between controls in each index are indicative for that. Age seemingly do not have influence like etiological factor of recurrence inflammation. High correlation between plaque index and gingival index was found in every control mainly in the groups controlled each 4 and 6 months.

Highly Prevalent LIPH Founder Mutations Causing Autosomal Recessive Woolly Hair/Hypotrichosis in Japan and the Genotype/Phenotype Correlations

PubMed Central

Kono, Michihiro; Takama, Hiromichi; Hamajima, Nobuyuki; Akiyama, Masashi

2014-01-01

Mutations in LIPH cause of autosomal recessive woolly hair/hypotrichosis (ARWH), and the 2 missense mutations c.736T>A (p.Cys246Ser) and c.742C>A (p.His248Asn) are considered prevalent founder mutations for ARWH in the Japanese population. To reveal genotype/phenotype correlations in ARWH cases in Japan and the haplotypes in 14 Japanese patients from 14 unrelated Japanese families. 13 patients had woolly hair, and 1 patient had complete baldness since birth. An LIPH mutation search revealed homozygous c.736T>A mutations in 10 of the patients. Compound heterozygous c.736T>A and c.742C>A mutations were found in 3 of the patients, and homozygous c.742C>A mutation in 1 patient. The phenotype of mild hypotrichosis with woolly hair was restricted to the patients with the homozygous c.736T>A mutation. The severe phenotype of complete baldness was seen in only 1 patient with homozygous c.742C>A. Haplotype analysis revealed that the alleles containing the LIPH c.736T>A mutation had a haplotype identical to that reported previously, although 4 alleles out of 5 chromosomes containing the LIPH c.742C>A mutation had a different haplotype from the previously reported founder allele. These alleles with c.742C>A are thought to be the third founder LIPH mutation causing ARWH. To accurately determine the prevalence of the founder mutations, we investigated allele frequencies of those mutations in 819 Japanese controls. Heterozygous c.736T>A mutations were found in 13 controls (allele frequency: 0.0079; carrier rate: 0.016), and heterozygous c.742C>A mutations were found in 2 controls (allele frequency: 0.0012; carrier rate: 0.0024). In conclusion, this study confirms the more accurate allele frequencies of the pathogenic founder mutations of LIPH and shows that there is a third founder mutation in Japan. In addition, the present findings suggest that the mutation patterns of LIPH might be associated with hypotrichosis severity in ARWH. PMID:24586639

Dose postural control improve following application of transcutaneous electrical nerve stimulation in diabetic peripheral neuropathic patients? A randomized placebo control trial.

PubMed

Saadat, Z; Rojhani-Shirazi, Z; Abbasi, L

2017-12-01

peripheral neuropathy is the most common problem of diabetes. Neuropathy leads to lower extremity somatosensory deficits and postural instability in these patients. However, there are not sufficient evidences for improving postural control in these patients. To investigate the effects of transcutaneous electrical nerve stimulation (TENS) on postural control in patients with diabetic neuropathy. Twenty eighth patients with diabetic neuropathy (40-55 Y/O) participated in this RCT study. Fourteen patients in case group received TENS and sham TENS was used for control group. Force plate platform was used to extract sway velocity and COP displacement parameters for postural control evaluation. The mean sway velocity and center of pressure displacement along the mediolateral and anteroposterior axes were not significantly different between two groups after TENS application (p>0.05). Application of 5min high frequency TENS on the knee joint could not improve postural control in patients with diabetic neuropathy. Copyright © 2017. Published by Elsevier Ltd.

Cytokine polymorphisms in patients with pemphigus.

PubMed

Eberhard, Yanina; Burgos, Elisa; Gagliardi, Julio; Vullo, Carlos Maria; Borosky, Alicia; Pesoa, Susana; Serra, Horacio Marcelo

2005-01-01

The aim of this study was to assess whether tumor necrosis factor alpha (TNF-alpha), transforming growth factor beta1 (TGF-beta1) and interleukin-10 (IL-10) polymorphisms are among the factors influencing the development of pemphigus. Whole blood from 20 patients with pemphigus and 24 control subjects was taken. Genomic DNA was obtained and cytokine genotyping for IL-10 (-1082 G/A; -819 C/T), TGFB1 (codon 10 C/T, codon 25 G/C) and TNFA (-308 G/A) was performed using the ARMS-PCR method. The distribution of IL-10 (-819) alleles was significantly different between the pemphigus and control groups (P=0.009). In particular, allele T was associated with the disease (OR 3.291, 95% CI 1.350-8.020). Similar results were observed when only pemphigus vulgaris (PV) patients were analyzed (P=0.012, OR 3.410, 95% CI 1.346-8.639). An increased frequency of the low producer IL-10 haplotype (-1082/-819 A/T) in patients with pemphigus compared with controls was observed (OR 2.714, 95% CI 1.102-6.685) and this association was also significant when only PV patients were considered (OR 2.667, 95% CI 1.043-6.816). There were no differences between patients and controls in the frequency of any other gene polymorphism analyzed. The increased frequency of the low producer IL-10 haplotype (-1082 /-819 A/T) suggest that the carriage of this haplotype might predispose to pemphigus or the high and intermediate producer haplotypes may be protective factors. The prevalence of the allele IL-10 (-819 T) in pemphigus patients cannot be explained by the current hypothesis, according to which a particular allele of the gene is associated with a different level of cytokine production and therefore affects the predisposition to a particular disease. However, this cytokine polymorphism might be linked to an unknown susceptibility factor.

Impact of the 4G/5G polymorphism in the plasminogen activator inhibitor-1 gene on primary nephrotic syndrome.

PubMed

Luo, Yuezhong; Wang, Chao; Tu, Haitao

2014-03-01

The aim of the present study was to investigate whether the four guanosines (4G)/five guanosines (5G) polymorphism in the gene coding for plasminogen activator inhibitor-1 (PAI-1) affects the clinical features of primary nephrotic syndrome (PNS). A cohort of 200 biopsy-diagnosed PNS patients was studied, with 40 healthy subjects as controls. The PAI-1 gene polymorphism was detected by polymerase chain reaction and DNA sequencing. Associations between the PAI-1 4G/5G polymorphism and clinical features and pathological types of PNS were analyzed. The results indicated that the PAI-1 genotype distribution is significantly different between patients with PNS and healthy controls, with significantly higher numbers of the 4G/4G genotype and lower numbers of the 5G5G genotype detected in PNS patients compared to controls (both P<0.05). The frequency of the 4G allele was also significantly higher in PNS patients compared to healthy controls (P<0.01). Among the different pathological types of PNS, IgA nephropathy (IgAN) and membranous nephropathy (MN) were associated with significantly increased frequencies of the 4G/4G and 4G/5G genotypes, as well as of the 4G allele. The increased 4G frequency was also detected in patients with minimal change disease (MCD). Significantly increased international normalized ratio (INR) and prolonged activated partial thromboplastin time (APTT) were observed in 4G/4G compared to 5G/5G PNS subjects. The response to steroids was not significantly different among the three genotypes. In conclusion, the 4G allele of the PAI-1 gene appears to be associated with PNS, especially in MN and IgAN patients. These findings suggest that specific targeting may be required for the treatment of PNS patients with the 4G/4G genotype.

Association of STin2 Variable Number of Tandem Repeat (VNTR) Polymorphism of Serotonin Transporter Gene with Lifelong Premature Ejaculation: A Case-Control Study in Han Chinese Subjects

PubMed Central

Huang, Yuanyuan; Zhang, Xiansheng; Gao, Jingjing; Tang, Dongdong; Gao, Pan; Peng, Dangwei; Liang, Chaozhao

2016-01-01

Background The STin2 VNTR polymorphism has a variable number of tandem repeats in intron 2 of the serotonin transporter gene. We aimed to explore the relationship between STin2 VNTR polymorphism and lifelong premature ejaculation (LPE). Material/Methods We recruited a total of 115 outpatients who complained of ejaculating prematurely and who were diagnosed as LPE, and 101 controls without PE complaint. Allelic variations of STin2 VNTR were genotyped using PCR-based technology. We evaluated the associations between STin2 VNTR allelic and genotypic frequencies and LPE, as well as the intravaginal ejaculation latency time (IELT) of different STin2 VNTR genotypes among LPE patients. Results The patients and controls did not differ significantly in terms of any characteristic except age. A significantly higher frequency of STin2.12/12 genotype was found among LPE patients versus controls (P=0.026). Frequency of patients carrying at least 1 copy of the 10-repeat allele was significantly lower compared to the control group (28.3% vs. 41.8%, OR=0.55; 95%CI=0.31–0.97, P=0.040). In the LPE group, the mean IELT showed significant difference in STin2.12/12 genotype when compared to those with STin2.12/10 and STin2.10/10 genotypes. The mean IELT in10-repeat allele carriers was 50% longer compared to homozygous carriers of the STin2.12 allele. Conclusions Our results indicate the presence of STin2.10 allele is a protective factor for LPE. Men carrying the higher expression genotype STin2. 12/12 have shorter IELT than 10-repeat allele carriers. PMID:27713390

Vitamin D Receptor TaqI Gene Variant in Exon 9 and Polycystic Ovary Syndrome Risk

PubMed Central

Bagheri, Morteza; Abdi Rad, Isa; Hosseini Jazani, Nima; Nanbakhsh, Fariba

2013-01-01

Background: Polycystic ovary syndrome (PCOS) is known as a metabolic disorder. The results of recent studies implied that vitamin D receptor (VDR) genetic variants may impact PCOS and insulin resistance in women with PCOS. The aim of the present study was to determine the VDR TaqI gene variant in exon 9 (T/C) (rs731236) in normal controls and patients with PCOS for the first time in Iranian Azeri women. Materials and Methods: In this case control study between April 2011 and June 2012, a total of 76 women aged 18-40 years (38 patients with PCOS and 38 healthy women as normal controls) participated. Genotypes of VDR TaqI in exon 9 (T/C) (rs731236) were determined using the PCR-RFLP method. Results: The frequencies of VDR TaqI T anc C alleles were 0.605 and 0.395 in cases and 0.697 and 0.303 in controls. Also, the genotypic frequencies of VDR TaqI were 16) (42.11), 14(36.84), and 8(21.05) in cases, and 17(44.74), 19(50), and 2(5.26) in controls for TT, TC and CC genotypes respectively. There was no difference in genotype and allele frequencies between PCOS and controls (p value>0.05) with the exception of the CC genotype (p value=0.04). Conclusion: This report, a first of its own kind in Iranian Azeri patients, suggests that the CC genotype of VDR TaqI in exon 9 (rs731236) is associated with PCOS. PMID:24520473

Study of the TP53 codon 72 polymorphism in oral cancer and oral potentially malignant disorders in Argentine patients.

PubMed

Zarate, Ana Maria; Don, Julieta; Secchi, Dante; Carrica, Andres; Galindez Costa, Fernanda; Panico, Rene; Brusa, Martin; Barra, José Luis; Brunotto, Mabel

2017-05-01

The aim of this work was to evaluate the prevalence of TP53Arg72Pro mutations and their possible relationship with oral carcinoma and oral potentially malignant disorders in Argentine patients. A cross-sectional study was performed on 111 exfoliated cytologies from patients with oral cancer (OC), oral potentially malignant disorders (OPMD) and controls. The TP53Arg72Pro mutations were determined using conventional PCR. We evaluated univariate and multivariate study variables, setting p < 0.05. We found: (a) a low frequency of Pro72 variant in control group and a high frequency in OC and OPMD, as well in OC and oral leukoplakia (OL) diagnosis; (b) multivariate association among the TP53CC genotype and females over 45 years with no tobacco nor alcohol habits with oral lichen planus pathology; (c) multivariate association between the TP53GC genotype and males with alcohol and tobacco habits and OC and OL pathologies. Our results showed that the wild-type Arg72variant was related to control patients and Pro72variant was related to OC and OPMD, in Argentine patients.

Heart rate variability analysed by Poincaré plot in patients with metabolic syndrome.

PubMed

Kubičková, Alena; Kozumplík, Jiří; Nováková, Zuzana; Plachý, Martin; Jurák, Pavel; Lipoldová, Jolana

2016-01-01

The SD1 and SD2 indexes (standard deviations in two orthogonal directions of the Poincaré plot) carry similar information to the spectral density power of the high and low frequency bands but have the advantage of easier calculation and lesser stationarity dependence. ECG signals from metabolic syndrome (MetS) and control group patients during tilt table test under controlled breathing (20 breaths/minute) were obtained. SD1, SD2, SDRR (standard deviation of RR intervals) and RMSSD (root mean square of successive differences of RR intervals) were evaluated for 31 control group and 33 MetS subjects. Statistically significant lower values were observed in MetS patients in supine position (SD1: p=0.03, SD2: p=0.002, SDRR: p=0.006, RMSSD: p=0.01) and during tilt (SD2: p=0.004, SDRR: p=0.007). SD1 and SD2 combining the advantages of time and frequency domain methods, distinguish successfully between MetS and control subjects. Copyright © 2016 Elsevier Inc. All rights reserved.

HbA1c measurement and relationship to incident stroke.

PubMed

Robson, R; Lacey, A S; Luzio, S D; Van Woerden, H; Heaven, M L; Wani, M; Halcox, J P J; Castilla-Guerra, L; Dawson, J; Hewitt, J

2016-04-01

To determine the proportion of people with diabetes who have HbA1c measured, what proportion achieve an HbA1c level of < 58 mmol/mol (7.5%), the frequency of testing and if there was any change in HbA1c level in the year before and the year after an incident stroke. This study used the Secure Anonymised Information Linkage (SAIL) databank, which stores hospital data for the whole of Wales and ~ 65% of Welsh general practice records, to identify cases of stroke in patients with diabetes between 2000 and 2010. These were matched against patients with diabetes but without stroke disease. We assessed the frequency of HbA1c testing and change in HbA1c in the first year after stroke. Estimation was made of the proportion of patients achieving an HbA1c measurement ≤ 58 mmol/mol (7.5%). There were 1741 patients with diabetes and stroke. Of these, 1173 (67.4%) had their HbA1c checked before their stroke and 1137 (65.3%) after their stroke. In the control group of 16 838 patients with diabetes but no stroke, 8413 (49.9%) and 9288 (55.1%) had their HbA1c checked before and after the case-matched stroke date, respectively. In patients with diabetes and stroke, HbA1c fell from 61-56 mmol/mol (7.7-7.3%) after their stroke (P < 0.001). Before the study, 55.0% of patients with stroke had an HbA1c ≥ 58 mmol/mol compared with 65.2% of control patients, these figures were 62.5% and 65.3% after the stroke. The frequency of diabetes testing was higher in patients who had experienced a stroke before and after their incident stroke compared with control patients but did not increase after their stroke. Glucose control improved significantly in the year after a stroke. © 2015 The Authors. Diabetic Medicine published by John Wiley & Sons Ltd on behalf of Diabetes UK.

Identification of a Novel BRCA1 Pathogenic Mutation in Korean Patients Following Reclassification of BRCA1 and BRCA2 Variants According to the ACMG Standards and Guidelines Using Relevant Ethnic Controls.

PubMed

Park, Ji Soo; Nam, Eun Ji; Park, Hyung Seok; Han, Jung Woo; Lee, Jung-Yun; Kim, Jieun; Kim, Tae Il; Lee, Seung-Tae

2017-10-01

Comparison of variant frequencies in the general population has become an essential part of the American College of Medical Genetics and Genomics (ACMG) standards and guidelines for interpreting sequence variants. We determined the optimal number of relevant ethnic controls that should be used to accurately calculate the odds ratio (OR) of genetic variants. Using the ACMG guidelines, we reclassified BRCA1 and BRCA2 mutations and variants of unknown significance in 745 Korean patients susceptible to hereditary breast and ovarian cancer compared with 1,314 Korean population controls. We observed that the ORs were falsely inflated when we analyzed several variants using non-Korean population data. Our simulation indicated that the number of controls needed for the lower limit of a 95% confidence interval to exceed 1.0 varied according to the frequency of the variant in each patient group, with more than 820 controls needed for a variant existing in 1% of cases. Using a sufficient number of relevant population data, we could efficiently classify variants and identified the BRCA1 p.Leu1780Pro mutation as a possible pathogenic founder mutation in Korean patients. Our study suggests that BRCA1 p.Leu1780Pro is a novel pathogenic mutation found in Korean patients. We also determined the optimal number of relevant ethnic controls needed for accurate variant classification according to the ACMG guidelines.

Behavioural intervention to increase physical activity in adults with coronary heart disease in Jordan.

PubMed

Alsaleh, Eman; Windle, Richard; Blake, Holly

2016-07-26

Patients with coronary heart disease often do not follow prescribed physical activity recommendations. The aim of this study was to assess the efficacy of a behavioural intervention to increase physical activity in patients with coronary heart disease not attending structured cardiac rehabilitation programmes. Parallel randomised controlled trial comparing 6-month multi-component behavioural change intervention (n = 71) with usual care (n = 85) was conducted in two hospitals in Jordan, Middle East. Intervention included one face-to-face individualised consultation, 6 telephone support calls (for goal-setting, feedback and self-monitoring) and 18 reminder text messages. Patients were randomly allocated to the two groups by opening opaque sealed sequence envelopes. The patients and the researcher who provided the intervention and assessed the outcomes were not blinded. Outcomes were assessed at baseline and 6 months. Primary outcome was physical activity level, secondary outcomes were blood pressure, body mass index, exercise self-efficacy for exercise and health-related quality of life. Intervention and control groups were comparable at baseline. Moderate physical activity significantly increased in the intervention group compared with control group (mean change (SD) of frequency: 0.23 (0.87) days/week versus -.06 (0.40); duration: 15.53 (90.15) minutes/week versus -3.67 (22.60) minutes/week; intensity: 31.05 (105.98) Metabolic equivalents (METs) versus 14.68 (90.40) METs). Effect size was 0.03 for moderate PA frequency, 0.02 for moderate PA duration and 0.01 for moderate PA intensity. Walking significantly increased in the intervention group compared with control group (mean change (SD) of frequency: 3.15 (2.75) days/week versus 0.37 (1.83) days/week; duration: 150.90 (124.47) minutes/week versus 24.05 (195.93) minutes/week; intensity: 495.12 (413.74) METs versus14.62 (265.06) METs). Effect size was 0.36 for walking frequency, 0.05 for walking duration, 0.32 for walking intensity and 0.29 for total PA intensity. Intervention participants had significantly lower blood pressure, lower body mass index, greater exercise self-efficacy and better health-related quality of life at 6 months compared with controls. Multi-component behavioural intervention increases physical activity, and improves body composition, physiological and psychological outcomes in CHD patients not attending structured rehabilitation programmes. Current Controlled Trials retrospectively registered in 21-03-2012. ISRCTN48570595 .

Associations between serotonin-related gene polymorphisms and panic disorder.

PubMed

Maron, Eduard; Lang, Aavo; Tasa, Gunnar; Liivlaid, Liivi; Tõru, Innar; Must, Anne; Vasar, Veiko; Shlik, Jakov

2005-06-01

Studies suggest that vulnerability to panic attacks and panic disorder (PD) may be related to a deficient serotonin (5-HT) neurotransmission. In the present case-control study we investigated possible associations between PD phenotype and five candidate polymorphisms including 5-HT transporter (5-HTTLPR and VNTR), monoamine oxidase A (MAOA promoter region), tryptophan hydroxylase 1 (TPH1 218A/C) and 5-HT1B receptor (5-HT1BR 861G/C) genes. The study sample consisted of 158 patients with PD and 215 healthy control subjects. The analysis showed higher frequencies of LL genotype (p = 0.016) and L allele variant (p = 0.007) of 5-HTTLPR in the patients. No significant associations were observed between PD and other candidate gene polymorphisms. However, a higher frequency of longer allele genotypes of the MAOA promoter region was observed in female PD patients with agoraphobia than in female controls (p = 0.016). These findings indicate that genetic variants conceivably related to lower 5-HT neurotransmission may be involved in the development of PD.

Granzyme B gene polymorphism associated with subacute sclerosing panencephalitis.

PubMed

Yentur, Sibel P; Aydin, Hatice Nur; Gurses, Candan; Demirbilek, Veysi; Kuru, Umit; Uysal, Serap; Yapici, Zuhal; Baris, Safa; Yilmaz, Gülden; Cokar, Ozlem; Onal, Emel; Gokyigit, Ayşen; Saruhan-Direskeneli, Güher

2014-10-01

 Subacute sclerosing panencephalitis (SSPE) is a late complication of measles infection. Immune dysfunction related to genetic susceptibility has been considered in disease pathogenesis. A functional single nucleotide polymorphism (SNP) of granzyme B gene (GZMB) reported in several pathologies may also be involved in susceptibility to SSPE.  An SNP (rs8192917, G → A, R→Q) was screened in 118 SSPE patients and 221 healthy controls (HC) by polymerase chain reaction-restriction fragment length polymorphism. Frequencies were compared between groups. In vitro production of GZMB was measured in controls with different genotypes.  The SNP had a minor allele (G) frequency of 0.22 in patients and 0.31 in controls. GG genotype was significantly less frequent in patients (odds ratio, 0.23). G allele carriers produced relatively higher levels of GZMB, when stimulated in vitro.  These findings implicate possible effect of this genetic polymorphism in susceptibility to SSPE which needs to be confirmed in bigger populations. Georg Thieme Verlag KG Stuttgart · New York.

Complement factor H polymorphisms in Japanese population with age-related macular degeneration.

PubMed

Okamoto, Haru; Umeda, Shinsuke; Obazawa, Minoru; Minami, Masayoshi; Noda, Toru; Mizota, Atsushi; Honda, Miki; Tanaka, Minoru; Koyama, Risa; Takagi, Ikue; Sakamoto, Yoshihiro; Saito, Yoshihiro; Miyake, Yozo; Iwata, Takeshi

2006-03-06

To study the frequency of five haplotypes previously reported in the complement factor H (CFH) gene for Japanese patients with age-related macular degeneration (AMD). Genomic DNA was isolated from peripheral blood samples taken from 96 Japanese AMD patients and 89 age-matched controls. All patients were diagnosed as having exudative (wet-type) AMD. The amplified polymerase chain reaction (PCR) products of CFH exons 2, 9, and 13, and intron 6 were analyzed by temperature gradient capillary electrophoresis (TGCE) and by direct sequencing. The haplotypes were identified, and their frequencies were calculated and compared with reported results. Five haplotypes were identified in the Japanese population including four already reported in the American population. The frequencies of these haplotypes were significantly different between Japanese and American in both control and case groups. The haplotype containing Y402H, which was previously reported to be associated with AMD, was only 4% in the control and case population, with a p value of 0.802. However, two other haplotypes were found as risk factors, which gave an increased likelihood of AMD of 1.9 and 2.5 fold (95% CI 1.12-3.69 and 1.42-6.38). One protective haplotype that decreased the likelihood of AMD by 1.6 fold (95% CI 0.26-0.67) was identified. The frequencies for five haplotypes previously identified were analyzed in a Japanese population with AMD. Four previously found haplotypes were identified and one additional haplotype was found. The frequencies of each haplotype were significantly different from that in found Americans affected with AMD. Two of the haplotypes were identified as risk factors and one was considered protective.

Evaluation of liver function tests in scleroderma patients.

PubMed

Salem, Gehan Ibrahim Abdelrazek; Abdulrahman, Awni Ali

2012-08-01

Systemic sclerosis is a clinically heterogeneous, systemic disorder which affects the connective tissue of the skin, internal organs, and the walls of blood vessels. It is characterized by alterations of the microvasculature, disturbances of the immune system and by massive deposition of collagen and other matrix substances in the connective tissue. This study was done to evaluate the frequency of liver disease in patients with scleroderma and, secondarily, to study the frequency of infection of hepatitis B and C virus in these patients and determine frequency of serum auto-antibodies in this disease. We studied patients with scleroderma, localized or systemic, in the outpatient clinic of rheumatology and dermatology departments, at King Khalid University Hospital. As for a comparison, healthy persons coming to the clinic with the same mean age were considered as control group. Forty patients with the diagnosis of scleroderma included in this work, 35% had elevated gamma-glutamyl-transferase (γ-GT), 30% had elevated alkaline phosphatase (AP) and in 17.5%, the alanine-amino-transferase (ALT) was above the reference values. The ALT had changed to be more in scleroderma patients than in controls. Twenty percent (20%) of the patients tested positive for anti-smooth muscle antibodies (anti-SMA) and only one patient had anti-mitochondrial antibodies (AMA). There was no statistical difference between the two groups regarding antibody testing. Anti-HCV antibodies were observed in one patient, and HBsAg was detected in another scleroderma patient. There was no patient with clinically significant hepatic disease. In this study, although changes in liver enzymes in patients with scleroderma were not uncommon, there was no scleroderma patient with clinical manifestations of liver disease.

Chemical composition and therapeutic effects of Lippia alba (Mill.) N. E. Brown leaves hydro-alcoholic extract in patients with migraine.

PubMed

Conde, Raul; Corrêa, Valéria S C; Carmona, Fabio; Contini, Silvia H T; Pereira, Ana M S

2011-11-15

There is no universally accepted and effective prophylaxis of migraine headache episodes. Thus we aimed to investigate the effects of Lippia alba (Mill.) N. E. Brown, an herb with many effects on central nervous system, on pain frequency and intensity of migraine patients. Patients were enrolled in a prospective, phase 2, non-controlled cohort study to orally receive hydro-alcoholic extract of L. alba leaves. Headache intensity and frequency of episodes were recorded before and after 30-60 days of treatment. We also studied the chemical composition of its essential oil by gas chromatography-mass spectrometry. We described for the first time a particular L. alba chemotype with geranial and carvenone as major compounds. With treatment, both frequency and intensity of pain episodes significantly decreased from baseline to first reassessment date. More than 80% of patients experienced a minimum 50% reduction on pain intensity and frequency. No side effects were reported. Treatment with a geranial plus carvenone chemotype of L. alba hydro-alcoholic extract is a cheap, widely available, highly effective therapy to reduce both the intensity and the frequency of headache episodes of migraine patients with no side effects. Copyright © 2011 Elsevier GmbH. All rights reserved.

Respiratory muscle activity and patient-ventilator asynchrony during different settings of noninvasive ventilation in stable hypercapnic COPD: does high inspiratory pressure lead to respiratory muscle unloading?

PubMed

Duiverman, Marieke L; Huberts, Anouk S; van Eykern, Leo A; Bladder, Gerrie; Wijkstra, Peter J

2017-01-01

High-intensity noninvasive ventilation (NIV) has been shown to improve outcomes in stable chronic obstructive pulmonary disease patients. However, there is insufficient knowledge about whether with this more controlled ventilatory mode optimal respiratory muscle unloading is provided without an increase in patient-ventilator asynchrony (PVA). Ten chronic obstructive pulmonary disease patients on home mechanical ventilation were included. Four different ventilatory settings were investigated in each patient in random order, each for 15 min, varying the inspiratory positive airway pressure and backup breathing frequency. With surface electromyography (EMG), activities of the intercostal muscles, diaphragm, and scalene muscles were determined. Furthermore, pressure tracings were derived simultaneously in order to assess PVA. Compared to spontaneous breathing, the most pronounced decrease in EMG activity was achieved with the high-pressure settings. Adding a high breathing frequency did reduce EMG activity per breath, while the decrease in EMG activity over 1 min was comparable with the high-pressure, low-frequency setting. With high backup breathing frequencies less breaths were pressure supported (25% vs 97%). PVAs occurred more frequently with the low-frequency settings ( P =0.017). High-intensity NIV might provide optimal unloading of respiratory muscles, without undue increases in PVA.

Gamma-aminobutyric acid (GABA) receptors genes polymorphisms and risk for restless legs syndrome.

PubMed

Jiménez-Jiménez, Félix Javier; Esguevillas, Gara; Alonso-Navarro, Hortensia; Zurdo, Martín; Turpín-Fenoll, Laura; Millán-Pascual, Jorge; Adeva-Bartolomé, Teresa; Cubo, Esther; Navacerrada, Francisco; Amo, Gemma; Rojo-Sebastián, Ana; Rubio, Lluisa; Díez-Fairén, Mónica; Pastor, Pau; Calleja, Marisol; Plaza-Nieto, José Francisco; Pilo-de-la-Fuente, Belén; Arroyo-Solera, Margarita; García-Albea, Esteban; Agúndez, José A G; García-Martín, Elena

2018-05-03

The possible role of gammaaminobutyric acid (GABA) in the pathophysiology of restless legs syndrome (RLS) is suggested by the symptomatic improvement achieved with GABAergic drugs. Thalamic GABA levels have shown positive correlation with periodic limb movements indices and with RLS severity. We tried to investigate the possible association between the most common single nucleotide polymorphisms (SNPs) in the GABA receptors (GABR) genes rho1, 2, and 3 (GABRR1, GABRR2, GABRR3), alpha4 (GABRA4), epsilon (GABRE), and theta (GABRQ) with the risk of developing RLS. We studied the genotype and allelic variant frequencies of the most common SNPs in the GABRR1(rs12200969, rs1186902), GABRR2(rs282129), GABRR3(rs832032), GABRA4(rs2229940), GABRE(rs1139916), and GABRQ(rs3810651) genes in 205 RLS patients and 230 age- and gender-matched healthy controls using specific TaqMan assays. The frequencies of the GABRR3 rs832032TT genotype and the allelic variant GABRR3 rs832032T were significantly higher in RLS patients than in controls (odds ratio [95% confidence intervals] 7.08[1.48-46.44] and 1.66[1.16-2.37], respectively), although only the higher frequency of the rs832032T allele remained as significant after multiple comparison analysis, both in the whole series and in the female gender. The frequencies of the other genotypes of allelic variants did not differ significantly between RLS patients and controls. RLS patients carrying the GABRA4 rs2229940TT genotype showed a significantly younger age at onset of RLS symptoms than those with the other two genotypes. These results suggest association between GABRR3rs832032 polymorphism and the risk for RLS, and a modifier effect of GABRA4 rs2229940 on the age of onset of RLS.

PEG 3350 (Transipeg) versus lactulose in the treatment of childhood functional constipation: a double blind, randomised, controlled, multicentre trial.

PubMed

Voskuijl, W; de Lorijn, F; Verwijs, W; Hogeman, P; Heijmans, J; Mäkel, W; Taminiau, J; Benninga, M

2004-11-01

Recently, polyethylene glycol (PEG 3350) has been suggested as a good alternative laxative to lactulose as a treatment option in paediatric constipation. However, no large randomised controlled trials exist evaluating the efficacy of either laxative. To compare PEG 3350 (Transipeg: polyethylene glycol with electrolytes) with lactulose in paediatric constipation and evaluate clinical efficacy/side effects. One hundred patients (aged 6 months-15 years) with paediatric constipation were included in an eight week double blinded, randomised, controlled trial. After faecal disimpaction, patients <6 years of age received PEG 3350 (2.95 g/sachet) or lactulose (6 g/sachet) while children > or =6 years started with 2 sachets/day. Primary outcome measures were: defecation and encopresis frequency/week and successful treatment after eight weeks. Success was defined as a defecation frequency > or =3/week and encopresis < or =1 every two weeks. Secondary outcome measures were side effects after eight weeks of treatment. A total of 91 patients (49 male) completed the study. A significant increase in defecation frequency (PEG 3350: 3 pre v 7 post treatment/week; lactulose: 3 pre v 6 post/week) and a significant decrease in encopresis frequency (PEG 3350: 10 pre v 3 post/week; lactulose: 8 pre v 3 post/week) was found in both groups (NS). However, success was significantly higher in the PEG group (56%) compared with the lactulose group (29%). PEG 3350 patients reported less abdominal pain, straining, and pain at defecation than children using lactulose. However, bad taste was reported significantly more often in the PEG group. PEG 3350 (0.26 (0.11) g/kg), compared with lactulose (0.66 (0.32) g/kg), provided a higher success rate with fewer side effects. PEG 3350 should be the laxative of first choice in childhood constipation.

Associations Between Sleep Quality and Migraine Frequency

PubMed Central

Lin, Yu-Kai; Lin, Guan-Yu; Lee, Jiunn-Tay; Lee, Meei-Shyuan; Tsai, Chia-Kuang; Hsu, Yu-Wei; Lin, Yu-Zhen; Tsai, Yi-Chien; Yang, Fu-Chi

2016-01-01

Abstract Migraine has been associated with sleep disturbances. Relationship between sleep quality and migraine frequency is yet to be determined. The present study aimed to investigate sleep disturbances among low-frequency, moderate-frequency, high-frequency, and chronic migraineurs, with and without auras, with well-controlled confounding variables. This cross-sectional controlled study included 357 subjects from an outpatient headache clinic in Taiwan. Standardized questionnaires were utilized to collect demographic, migraine, sleep, depression, anxiety, and restless leg syndrome characteristics in all participants. According to frequency of migraine attacks, patients were divided into 4 groups: with 1 to 4 migraine days per month, 5 to 8 migraine days in a month, 9 to 14 migraine days in a month, and >14 migraine days per month. The Pittsburgh Sleep Quality Index (PSQI) and subgroup items were used to evaluate sleep quality. The association between migraine frequency and sleep quality was investigated using multivariable linear regression and logistic regression. The PSQI total score was highest in patients with high frequent migraine (10.0 ± 3.4) and lowest in controls (7.0 ± 3.4) with a significant trend analysis (P for trend = 0.006). Migraine frequency had an independent effect on the items “Cannot get to sleep within 30 minutes” (P < 0.001), “Wake up in the middle of the night or early morning” (P < 0.001), “Bad dreams” (P = 0.001), “Pain” (P = 0.004), and “Quality of sleep” (P < 0.001). The result showed the effect of migraine frequency in both the aura-present (P for trend = 0.008) and the aura-absent subgroups (P for trend = 0.011). High migraine frequency correlates with poor sleep quality and a higher prevalence of poor sleepers. These associations occur in migraine with aura and without aura. PMID:27124064

An increased frequency of patent foramen ovale in patients with transient global amnesia. Analysis of 53 consecutive patients.

PubMed

Klötzsch, C; Sliwka, U; Berlit, P; Noth, J

1996-06-01

Alerted by the number of patients with transient global amnesia (TGA) in whom Valsalvalike activities immediately preceded the onset of TGA, we have investigated the frequency of patent foramen ovale (PFO) as the prerequisite for paradoxical embolism. Case series with comparison to a control group. Hospitalized and ambulatory patients at the neurological departments of the Alfried Krupp Hospital, Essen, Germany, and the Rheinisch-Westfälische-Technische Hochschule, Aachen, Germany. Fifty-three consecutive patients with TGA were evaluated by the 2 centers between 1988 and 1995. Using contrast transcranial Doppler sonography we have observed a PFO in 55% of the patients with TGA, compared with 27% of a control group of 100 patients. This difference was statistically significant (P < .01). Twenty-five patients with TGA (47%), 15 of them with a proven PFO, reported a precipitating activity, such as the lifting of heavy weights, immediately before the TGA occurred. In addition to other pathological mechanisms, paradoxical embolism with temporobasal ischemia could possibly play a role in the clinical syndrome of TGA. This hypothesis could explain the frequent observation of preceding Valsalvalike activities in patients with TGA.

Cytomorphometric and Morphological Analysis in Women with Trichomonas vaginalis Infection: Micronucleus Frequency in Exfoliated Cervical Epithelial Cells.

PubMed

Safi Oz, Zehra; Doğan Gun, Banu; Gun, Mustafa Ozkan; Ozdamar, Sukru Oguz

2015-01-01

The aim of this study was to explore the cytomorphometric and morphological effects of Trichomonas vaginalis in exfoliated epithelial cells. Ninety-six Pap-stained cervical smears were divided into a study group and two control groups as follows: T. vaginalis cases, a first control group with inflammation, and a second control group without inflammation. Micronucleated, binucleated, karyorrhectic, karyolytic, and karyopyknotic cells and cells with perinuclear halos per 1,000 epithelial cells were counted. Nuclear and cellular areas were evaluated in 70 clearly defined cells in each smear using image analysis. The frequencies of morphological parameters in the T. vaginalis cases were higher than the values of the two control groups, and the difference among groups was found to be significant (p < 0.05). The nuclear and cytoplasmic areas of epithelial cells were diminished in patients with trichomoniasis. The mean nucleus/cytoplasm ratio in T. vaginalis patients was higher than the value in the control groups, and the difference between the study group and control group 1 was significant. However, there was no statistically significant increase between the study group and control group 2. T. vaginalis exhibited significant changes in the cellular size and nuclear structure of the cells. The rising frequency of micronuclei, nuclear abnormalities, and changing nucleus/cytoplasm ratio may reflect genotoxic damage in trichomoniasis. © 2015 S. Karger AG, Basel.

Investigation of C9orf72 in 4 Neurodegenerative Disorders

PubMed Central

Xi, Zhengrui; Zinman, Lorne; Grinberg, Yakov; Moreno, Danielle; Sato, Christine; Bilbao, Juan M.; Ghani, Mahdi; Hernández, Isabel; Ruiz, Agustín; Boada, Mercè; Morón, Francisco J.; Lang, Anthony E.; Marras, Connie; Bruni, Amalia; Colao, Rosanna; Maletta, Raffaele G.; Puccio, Gianfranco; Rainero, Innocenzo; Pinessi, Lorenzo; Galimberti, Daniela; Morrison, Karen E.; Moorby, Catriona; Stockton, Joanne D.; Masellis, Mario; Black, Sandra E.; Hazrati, Lili-Naz; Liang, Yan; van Haersma de With, Jan; Fornazzari, Luis; Villagra, Roque; Rojas-Garcia, Ricardo; Clarimón, Jordi; Mayeux, Richard; Robertson, Janice; St George-Hyslop, Peter; Rogaeva, Ekaterina

2014-01-01

Objective To estimate the allele frequency of C9orf72 (G4C2) repeats in amyotrophic lateral sclerosis (ALS), frontotemporal lobar degeneration (FTLD), Alzheimer disease (AD), and Parkinson disease (PD). Design The number of repeats was estimated by a 2-step genotyping strategy. For expansion carriers, we sequenced the repeat flanking regions and obtained APOE genotypes and MAPT H1/H2 haplotypes. Setting Hospitals specializing in neurodegenerative disorders. Subjects We analyzed 520 patients with FTLD, 389 patients with ALS, 424 patients with AD, 289 patients with PD, 602 controls, 18 families, and 29 patients with PD with the LRRK2 G2019S mutation. Main Outcome Measure The expansion frequency. Results Based on a prior cutoff (>30 repeats), the expansion was detected in 9.3% of patients with ALS, 5.2% of patients with FTLD, and 0.7% of patients with PD but not in controls or patients with AD. It was significantly associated with family history of ALS or FTLD and age at onset of FTLD. Phenotype variation (ALS vs FTLD) was not associated with MAPT, APOE, or variability in the repeat flanking regions. Two patients with PD were carriers of 39 and 32 repeats with questionable pathological significance, since the 39-repeat allele does not segregate with PD. No expansion or intermediate alleles (20–29 repeats) were found among the G2019S carriers and AD cases with TAR DNA-binding protein 43–positive inclusions. Surprisingly, the frequency of the 10-repeat allele was marginally increased in all 4 neurodegenerative diseases compared with controls, indicating the presence of an unknown risk variation in the C9orf72 locus. Conclusions The C9orf72 expansion is a common cause of ALS and FTLD, but not of AD or PD. Our study raises concern about a reliable cutoff for the pathological repeat number, which is important in the utility of genetic screening. PMID:22964832

Association of Angiotensin-Converting Enzyme (ACE) Gene Polymorphism with Inflammation and Cellular Cytotoxicity in Vitiligo Patients.

PubMed

Rashed, Laila; Abdel Hay, Rania; Mahmoud, Rania; Hasan, Nermeen; Zahra, Amr; Fayez, Salwa

2015-01-01

Vitiligo is a disorder with profound heterogeneity in its aetio-pathophysiology. Angiotensin converting enzyme (ACE) plays an important role in the physiology of the vasculature, blood pressure and inflammation. An insertion/deletion (I/D) polymorphism of the ACE gene was reported be associated with the development of vitiligo. Our aim was to evaluate the ACE I/D polymorphism in vitiligo patients and controls. Our second aim was to find a possible association between ACE gene polymorphism and inflammatory mediators (as interleukin (IL)-6) and/or cellular cytotoxicity induced by serum nitrite (as a breakdown product of the cytotoxic nitric oxide) in vitiligo patients. This case-control study included 74 vitiligo patients and 75 apparently healthy controls. The distribution of ACE gene I/D genotype was investigated using PCR. Serum ACE, IL-6 and nitrite were measured by colorimetric method, ELISA and Griess assay respectively. The ACE allele frequency was significantly different between vitiligo patients and healthy controls (P = 0.026). However there was no significant difference between the ACE genotyping frequency in both groups (P = 0.115). There were statistically significant higher VIDA score (P = 0.007), and serum IL-6 (P < 0.001) in patients with the DD genotype when compared to other genotypes. Serum nitrite in patients with the DD genotype was significantly higher (P = 0.007) when compared to patients with II genotype. Serum levels of ACE, IL-6 and nitrite in vitiligo patients were statistically significantly higher than those in controls. As a conclusion, ACE gene polymorphism might grant susceptibility to develop vitiligo. Serum IL-6 and nitrite levels might have an important role in the pathogenesis of vitiligo. Targeting these two factors might have an implication in the treatment of some resistant cases.

Transverse sinus stenosis in adult patients with Chiari malformation type I.

PubMed

Saindane, Amit M; Bruce, Beau B; Desai, Nilesh K; Roller, Lauren A; Newman, Nancy J; Biousse, Valérie

2014-10-01

Transverse sinus stenosis is an imaging finding very highly associated with elevated intracranial pressure (ICP). Patients with the Chiari I malformation may potentially have elevated ICP due to impairment of CSF flow at the foramen magnum. This study evaluated whether patients with Chiari I malformation have transverse sinus stenosis and other imaging findings indicative of elevated ICP. Thirty patients with Chiari I malformation treated surgically and 76 control subjects were identified retrospectively. All control subjects and all patients with Chiari I malformation (preoperatively) underwent standardized contrast-enhanced brain MRI including a contrast-enhanced 3D T1-weighted sequence from which curved reformats of the transverse sinuses were generated. Two different readers blinded to the diagnosis then independently evaluated these curved reformats for severity of transverse sinus stenosis. Orbital and skull-base findings previously described in association with elevated ICP were also evaluated. Frequency of MRI findings between the two groups was compared. Patients with Chiari I malformation had significantly greater frequency of unilateral or bilateral transverse sinus stenosis than did control subjects (p < 0.001). There was complete interreader agreement on presence or absence of transverse sinus stenosis by patient (κ = 1.0 [95% CI, 0.89-1.0]). Logistic regression analysis controlling for age, sex, and body mass index found that transverse sinus stenosis significantly predicted Chiari I malformation versus control status (odds ratio, 11.2 [95% CI, 2.1-59.0]; p = 0.004) but that no other features were significantly associated with the Chiari I malformation. Patients with Chiari I malformation who had transverse sinus stenosis had significantly greater pituitary flattening than did those without transverse sinus stenosis (p = 0.02). Patients with Chiari I malformation have higher likelihood of transverse sinus stenosis, which may reflect associated elevated ICP.

Effects of Intravenous Patient-Controlled Sufentanil Analgesia and Music Therapy on Pain and Hemodynamics After Surgery for Lung Cancer: A Randomized Parallel Study.

PubMed

Wang, Yichun; Tang, Haoke; Guo, Qulian; Liu, Jingshi; Liu, Xiaohong; Luo, Junming; Yang, Wenqian

2015-11-01

Postoperative pain is caused by surgical injury and trauma; is stressful to patients; and includes a series of physiologic, psychological, and behavioral reactions. Effective postoperative analgesia helps improve postoperative pain, perioperative safety, and hospital discharge rates. This study aimed to observe the influence of postoperative intravenous sufentanil patient-controlled analgesia combined with music therapy versus sufentanil alone on hemodynamics and analgesia in patients with lung cancer. This was a randomized parallel study performed in 60 patients in American Society of Anesthesiologists class I or II undergoing lung cancer resection at the Affiliated Cancer Hospital of Xiangya School of Medicine, Central South University. Patients were randomly assigned to a music therapy (MT) group and a control (C) group. The MT group underwent preoperative and postoperative music intervention while the C group did not. Both groups received intravenous patient-controlled sufentanil analgesia. The primary outcome was the visual analogue scale (VAS) score at 24 hours after surgery. The secondary outcomes included hemodynamic changes (systolic blood pressure, diastolic blood pressure, heart rate), changes on the Self-Rating Anxiety Scale (SAS), total consumption of sufentanil, number of uses, sedation, and adverse effects. The postoperative sufentanil dose and analgesia frequency were recorded. Compared with the C group, the MT group had significantly lower VAS score, systolic and diastolic blood pressure, heart rate, and SAS score within 24 hours after surgery (p < 0.01). In addition, postoperative analgesia frequency and sufentanil dose were reduced in the MT group (p < 0.01). Combined music therapy and sufentanil improves intravenous patient-controlled analgesia effects compared with sufentanil alone after lung cancer surgery. Lower doses of sufentanil could be administered to more effectively improve patients' cardiovascular parameters.

Investigation of Interleukin-1β Polymorphisms in Prostate Cancer.

PubMed

Yencilek, Faruk; Yildirim, Asif; Yilmaz, Seda Gulec; Altinkilic, Emre Murat; Dalan, Altay Burak; Bastug, Yavuz; Isbir, Turgay

2015-11-01

Cytokine-mediated immune and inflammatory responses are considered to play an important role in the pathogenesis of prostate cancer. The present study investigated certain interleukin-1β (IL1β) polymorphisms and their association with prostate cancer. Genotyping of the IL1B-31(rs 1143627 G>A) and IL1B-511(rs 16944 A

Is infertility a risk factor for female sexual dysfunction? A case-control study.

PubMed

Millheiser, Leah S; Helmer, Amy E; Quintero, Rodolfo B; Westphal, Lynn M; Milki, Amin A; Lathi, Ruth B

2010-11-01

To determine the impact of infertility on female sexual function. A case-control study. Academic infertility and gynecology practices. One hundred nineteen women with infertility and 99 healthy female controls without infertility between the ages of 18 and 45 years were included in this study. Anonymous survey and Female Sexual Function Index. Female Sexual Function Index scores, frequency of sexual intercourse and masturbation, and sex-life satisfaction. Twenty-five percent of our control group had Female Sexual Function Index scores that put them at risk for sexual dysfunction (<26.55), whereas 40% of our patients with infertility met this criterion. Compared with the control group, the patients with infertility had significantly lower scores in the desire and arousal domains and lower frequency of intercourse and masturbation. The patients with infertility retrospectively reported a sex-life satisfaction score that was similar to that of the controls before their diagnosis, whereas their current sex-life satisfaction scores were significantly lower than those of the controls. Women with a diagnosis of infertility were found to be at higher risk for sexual dysfunction on the basis of their Female Sexual Function Index scores compared with women without infertility. The interaction of sexual function and infertility is complex and deserves further study. Copyright © 2010. Published by Elsevier Inc.

Blastocystosis in patients with gastrointestinal symptoms: a case–control study

PubMed Central

2012-01-01

Background Blastocystosis is a frequent bowel disease. We planned to to evaluate the prevalence of Blastocystis spp. in patients who applied to the same internal medicine-gastroenterology clinic with or without gastrointestinal complaints to reveal the association of this parasite with diagnosed IBS and IBD. Methods A total of 2334 patients with gastrointestinal symptoms composed the study group, which included 335 patients with diagnosed inflammatory bowel disease and 877 with irritable bowel syndrome. Patients without any gastrointestinal symptoms or disease (n = 192) composed the control group. Parasite presence was investigated by applying native-Lugol and formol ethyl acetate concentration to stool specimens, and trichrome staining method in suspicious cases. Results Blastocystis spp. was detected in 134 patients (5.74%) in the study group and 6 (3.12%) in the control group (p = 0.128). In the study group, Blastocystis spp. was detected at frequencies of 8.7% in ulcerative colitis (24/276), 6.78% in Crohn’s disease (4/59), 5.82% in irritable bowel syndrome (51/877), and 4.9% in the remaining patients with gastrointestinal symptoms (55/1122). Blastocystis spp. was detected at a statistically significant ratio in the inflammatory bowel disease (odds ratio [OR] = 2.824; 95% confidence interval [CI]: 1.149-6.944; p = 0.019) and ulcerative colitis (OR = 2.952; 95% CI: 1.183-7.367; p = 0.016) patients within this group compared to controls. There were no statistically significant differences between the control group and Crohn’s disease or irritable bowel syndrome patients in terms Blastocystis spp. frequency (p = 0.251, p = 0.133). Conclusions Blastocystosis was more frequent in patients with inflammatory bowel disease, especially those with ulcerative colitis. Although symptomatic irritable bowel syndrome and Crohn’s disease patients had higher rates of Blastocystis spp. infection, the differences were not significant when compared to controls. PMID:22963003

Blastocystosis in patients with gastrointestinal symptoms: a case-control study.

PubMed

Cekin, Ayhan Hilmi; Cekin, Yesim; Adakan, Yesim; Tasdemir, Ezel; Koclar, Fatma Gulsun; Yolcular, Basak Oguz

2012-09-10

Blastocystosis is a frequent bowel disease. We planned to to evaluate the prevalence of Blastocystis spp. in patients who applied to the same internal medicine-gastroenterology clinic with or without gastrointestinal complaints to reveal the association of this parasite with diagnosed IBS and IBD. A total of 2334 patients with gastrointestinal symptoms composed the study group, which included 335 patients with diagnosed inflammatory bowel disease and 877 with irritable bowel syndrome. Patients without any gastrointestinal symptoms or disease (n = 192) composed the control group. Parasite presence was investigated by applying native-Lugol and formol ethyl acetate concentration to stool specimens, and trichrome staining method in suspicious cases. Blastocystis spp. was detected in 134 patients (5.74%) in the study group and 6 (3.12%) in the control group (p = 0.128). In the study group, Blastocystis spp. was detected at frequencies of 8.7% in ulcerative colitis (24/276), 6.78% in Crohn's disease (4/59), 5.82% in irritable bowel syndrome (51/877), and 4.9% in the remaining patients with gastrointestinal symptoms (55/1122). Blastocystis spp. was detected at a statistically significant ratio in the inflammatory bowel disease (odds ratio [OR] = 2.824; 95% confidence interval [CI]: 1.149-6.944; p = 0.019) and ulcerative colitis (OR = 2.952; 95% CI: 1.183-7.367; p = 0.016) patients within this group compared to controls. There were no statistically significant differences between the control group and Crohn's disease or irritable bowel syndrome patients in terms Blastocystis spp. frequency (p = 0.251, p = 0.133). Blastocystosis was more frequent in patients with inflammatory bowel disease, especially those with ulcerative colitis. Although symptomatic irritable bowel syndrome and Crohn's disease patients had higher rates of Blastocystis spp. infection, the differences were not significant when compared to controls.

Lower urinary tract symptoms in children with anorectal malformations with rectoperineal fistulas.

PubMed

Stenström, Pernilla; Sandelin, Hanna; Emblem, Ragnhild; Björnland, Kristin

2016-08-01

The aim was to describe the frequency of lower urinary tract symptoms (LUTS) in children with anorectal malformations with rectoperineal fistulas (ARM-P), as compared with healthy controls based on gender. LUTS were defined using the 2014 definitions of the International Children's Continence Society. Data were collected at 2 tertiary pediatric surgery centers in 2 countries from all children aged 4-12years who had undergone an operation for ARM-P. A total of 24 girls and 33 boys, with a median age of 8 (4-12)years, were eligible and compared with 165 controls. Of the patient group, 4 (17%) girls had 8 urinary tract anomalies (UTA), and 8 (24%) boys had 13 UTA. There were no gender differences in LUTS among the patients. The frequency of urinary tract infections was higher among the patients (5/24 girls and 7/55 boys) than the controls (1/55 and 4/110) (p=0.009). More patients (5/24 girls and 5/33 boys) than controls (1/55 and 2/110) used daily urinary medications (p=0.009 and p=0.007, respectively). Patients with UTA reported urinary infections more frequently (3/4 girls and 4/8 boys) than those without UTA (2/20 girls and 0/25 boys) (p=0.018 and p=0.002, respectively). Children with ARM-P had more LUTS than controls, and patients with concomitant UTA had more LUTS than patients without UTA. Therefore, children with ARM-P are suggested to have routine follow-up for both UTA and LUTS. Copyright © 2016 Elsevier Inc. All rights reserved.

Differential expression of heat shock protein (HSP) 70-2 gene polymorphism in benign and malignant pancreatic disorders and its relationship with disease severity and complications.

PubMed

Srivastava, Puja; Shafiq, Nusrat; Bhasin, Deepak Kumar; Rana, Surinder Singh; Pandhi, Promila; Behera, Arunanshu; Kapoor, Rakesh; Malhotra, Samir; Gupta, Rajesh

2012-07-10

The role of heat shock protein (HSP) 70-2 gene polymorphism (at position 1267, A to G transition) in patients with pancreatic disorders is not clear. To evaluate HSP 70-2 gene polymorphism (at position 1267, A to G transition) in patients with acute and chronic pancreatitis as well as pancreatic carcinoma, and to find any association of this polymorphism with disease complications and severity. One-hundred and fifty patients (50 each of acute, chronic pancreatitis, and pancreatic carcinoma) and 50 healthy blood donors as controls were prospectively studied. Three alleles (AA, AG and GG) of HSP 70-2 gene determined by PstI restriction fragment length polymorphism. There was a statistically significant difference in the distribution pattern of HSP 70-2 gene polymorphism in patients with acute pancreatitis (P=0.001) and pancreatic carcinoma (P<0.001) as compared to controls. The frequency of mutant allele (G allele) was significantly higher in diseased group as compared to control group (19% in control group, 40% in acute pancreatitis, 33% in chronic pancreatitis and 45% in pancreatic carcinoma). No association of this polymorphism was found with disease severity in patients with acute and chronic pancreatitis or pancreatic carcinoma. In our patient sample the frequency of mutant allele (G allele) of HSP 70-2 gene is significantly higher in patients with acute pancreatitis and pancreatic carcinoma compared to controls (50 healthy blood donors). However, this polymorphism was not associated with disease severity and complications.

Tumor Necrosis Factor-alpha Induced Protein 3 Interacting Protein 1 Gene Polymorphisms and Pustular Psoriasis in Chinese Han Population

PubMed Central

Han, Jian-Wen; Wang, Yong; Alateng, Chulu; Li, Hong-Bin; Bai, Yun-Hua; Lyu, Xin-Xiang; Wu, Rina

2016-01-01

Background: Psoriasis is a common immune-mediated inflammatory dermatosis. Generalized pustular psoriasis (GPP) is the severe and rare type of psoriasis. The association between tumor necrosis factor-alpha induced protein 3 interacting protein 1 (TNIP1) gene and psoriasis was confirmed in people with multiple ethnicities. This study was to investigate the association between TNIP1 gene polymorphisms and pustular psoriasis in Chinese Han population. Methods: Seventy-three patients with GPP, 67 patients with palmoplantar pustulosis (PPP), and 476 healthy controls were collected from Chinese Han population. Six single nucleotide polymorphisms (SNPs) of the TNIP1 gene, namely rs3805435, rs3792798, rs3792797, rs869976, rs17728338, and rs999011 were genotyped by using polymerase chain reaction-ligase detection reaction. Statistical analyses were performed using the PLINK 1.07 package. Allele frequencies and genotyping frequencies for six SNPs were compared by using Chi-square test, odd ratio (OR) (including 95% confidence interval) were calculated. The haplotype analysis was conducted by Haploview software. Results: The frequencies of alleles of five SNPs were significantly different between the GPP group and the control group (P ≤ 7.22 × 10−3), especially in the GPP patients without psoriasis vulgaris (PsV). In the haplotype analysis, the most significantly different haplotype was H4: ACGAAC, with 13.1% frequency in the GPP group but only 3.4% in the control group (OR = 4.16, P = 4.459 × 10−7). However, no significant difference in the allele frequencies was found between the PPP group and control group for each of the six SNPs (P > 0.05). Conclusions: Polymorphisms in TNIP1 are associated with GPP in Chinese Han population. However, no association with PPP was found. These findings suggest that TNIP1 might be a susceptibility gene for GPP. PMID:27364786

Patellofemoral pain syndrome: electromyography in a frequency domain analysis

NASA Astrophysics Data System (ADS)

Catelli, D. S.; Kuriki, H. U.; Polito, L. F.; Azevedo, F. M.; Negrão Filho, R. F.; Alves, N.

2011-09-01

The Patellofemoral Pain Syndrome (PFPS), has a multifactorial etiology and affects approximately 7 to 15% of the population, mostly women, youth, adults and active persons. PFPS causes anterior or retropatelar pain that is exacerbated during functional motor gestures, such as up and down stairs or spending long periods of time sitting, squatting or kneeling. As the diagnostic evaluation of this syndrome is still indirect, different mechanisms and methodologies try to make a classification that distinguishes patients with PFPS in relation to asymptomatic. Thereby, the purpose of this investigation was to determine the characteristics of the electromyographic (EMG) signal in the frequency domain of the vastus medialis oblique (VMO) and vastus lateralis (VL) in patients with PFPS, during the ascent of stairs. 33 young women (22 control group and 11 PFPS group), were evaluated by EMG during ascent of stairs. The VMO mean power frequency (MPF) and the VL frequency 95% (F95) were lower in symptomatic individuals. This may be related to the difference in muscle recruitment strategy exerted by each muscle in the PFPS group compared to the control group.

Association study of two functional single nucleotide polymorphisms of neuropeptide y gene with multiple sclerosis.

PubMed

Mohammadi, Seyed Mahdi; Shirvani Farsani, Zeinab; Dosti, Rozita; Sahraian, Mohammad Ali; Behmanesh, Mehrdad

2016-12-01

Multiple sclerosis (MS) is an autoimmune disease of the central nervous system characterized by brain inflammation, demyelination and axonal loss. Neuropeptide Y (NPY) has a critical role in the maintenance of homeostasis in the immune system and coping of stress condition. In the current study we analyzed 188 patients suffering from MS and 204 unrelated healthy controls for two functional single nucleotide polymorphisms (SNPs), NPY 20T>C (rs16139) and NPY -485T>C (rs16147) using PCR-RFLP and Mismatch PCR-RFLP methods. Our results demonstrated that homozygocity in the minor allele for NPY -485T>C polymorphism is associated with the MS risk in patients in compare with healthy controls (CC vs. TT, P=0.033; CC vs. TT+TC, P=0.02). In addition, by comparison with allele T, the frequency of NPY -485C allele was higher in cases than in control subjects and present increased risk of MS, but statistically significant was borderline (P=0.053). The stratification for disease progression revealed a significant difference in the allelic and genotypic distribution between subgroups of MS and controls. The frequency of the CC genotype and C allele was higher in the primary progressive MS patients when compared with control group (CC vs. TT, P=0.019; CC vs. TT+TC, P=0.008; C vs. T, P=0.022). In addition, the frequency of CC genotype was higher in the relapsing remitting MS patients when compared with control group (CC vs. TT, P=0.034; CC vs. TT+TC, P=0.016). Haplotype analysis demonstrated that the haplotype 3 (CT) is more common in RR MS (P=0.041), and PP MS (P=0.031) than control group. In conclusion, the obtained results demonstrate the probable role of NPY SNPs in susceptibility to MS within the Iranian population. Copyright © 2016 Elsevier Ltd. All rights reserved.

Independent oscillatory patterns determine performance fluctuations in children with attention deficit/hyperactivity disorder.

PubMed

Yordanova, Juliana; Albrecht, Björn; Uebel, Henrik; Kirov, Roumen; Banaschewski, Tobias; Rothenberger, Aribert; Kolev, Vasil

2011-06-01

The maintenance of stable goal-directed behaviour is a hallmark of conscious executive control in humans. Notably, both correct and error human actions may have a subconscious activation-based determination. One possible source of subconscious interference may be the default mode network that, in contrast to attentional network, manifests intrinsic oscillations at very low (<0.1 Hz) frequencies. In the present study, we analyse the time dynamics of performance accuracy to search for multisecond periodic fluctuations of error occurrence. Attentional lapses in attention deficit/hyperactivity disorder are proposed to originate from interferences from intrinsically oscillating networks. Identifying periodic error fluctuations with a frequency<0.1 Hz in patients with attention deficit/hyperactivity disorder would provide a behavioural evidence for such interferences. Performance was monitored during a visual flanker task in 92 children (7- to 16-year olds), 47 with attention deficit/hyperactivity disorder, combined type and 45 healthy controls. Using an original approach, the time distribution of error occurrence was analysed in the frequency and time-frequency domains in order to detect rhythmic periodicity. Major results demonstrate that in both patients and controls, error behaviour was characterized by multisecond rhythmic fluctuations with a period of ∼12 s, appearing with a delay after transition to task. Only in attention deficit/hyperactivity disorder, was there an additional 'pathological' oscillation of error generation, which determined periodic drops of performance accuracy each 20-30 s. Thus, in patients, periodic error fluctuations were modulated by two independent oscillatory patterns. The findings demonstrate that: (i) attentive behaviour of children is determined by multisecond regularities; and (ii) a unique additional periodicity guides performance fluctuations in patients. These observations may re-conceptualize the understanding of attentive behaviour beyond the executive top-down control and may reveal new origins of psychopathological behaviours in attention deficit/hyperactivity disorder.

Autonomic cardiac regulation during spontaneous nocturnal hypoglycemia in patients with type 1 diabetes.

PubMed

Koivikko, Minna L; Tulppo, Mikko P; Kiviniemi, Antti M; Kallio, Mika A; Perkiömäki, Juha S; Salmela, Pasi I; Airaksinen, K E Juhani; Huikuri, Heikki V

2012-07-01

Experimental clamp studies have suggested that hypoglycemia evokes a reduction of cardiac vagal control in patients with type 1 diabetes. However, there are limited data on the influence of spontaneous nocturnal hypoglycemia on cardiac autonomic regulation. Adults with type 1 diabetes (n = 37) underwent continuous glucose monitoring via a subcutaneous sensor as well as recording of R-R interval or electrocardiogram for 3 nights. Heart rate (HR) variability was analyzed during periods of hypoglycemia (glucose <3.5 mmol/L) (minimum length of 20 min) and a control nonhypoglycemic period (glucose >3.9 mmol/L) of equal duration and at the same time of night. The duration of hypoglycemic and control episodes (n = 18) ranged from 20 to 190 min (mean 71 min). HR (62 ± 7 vs. 63 ± 9 beats per min; P = 0.30) or the high-frequency component of HR power spectrum (2,002 ± 1,965 vs. 1,336 ± 1,506 ms(2); P = 0.26) did not change during hypoglycemia. Hypoglycemia resulted in a significant decrease in the low-frequency component of HR variability (2,134 ± 1,635 vs. 1,169 ± 1,029 ms(2), respectively; P = 0.006). The decline in the glucose concentration displayed a significant positive correlation with the decrease of the low-frequency component of HR variability (r = 0.48; P = 0.04). The latter was closely related to an increase in muscle sympathetic nerve activity recorded in 10 subjects during controlled sympathetic activation. Spontaneous nocturnal hypoglycemia in patients with type 1 diabetes results in a reduction of the low-frequency component of HR, which is best explained by excessive sympathetic activation without a concomitant withdrawal of vagal outflow.

Neuro-otologic symptoms in patients with type 2 diabetes mellitus.

PubMed

Jáuregui-Renaud, Kathrine; Sánchez, Blanca; Ibarra Olmos, Alicia; González-Barcena, David

2009-06-01

To assess the prevalence of balance symptoms in type-2 diabetes mellitus (DM2), at the first level of health care. Compared to 101 controls, 101 patients showed a higher frequency of all the symptoms investigated through a standardized questionnaire (p<0.01). In DM2 patients, balance symptoms should be intentionally investigated.

Migraine exacerbation during Ramadan fasting.

PubMed

Abu-Salameh, Ibrahim; Plakht, Ygal; Ifergane, Gal

2010-12-01

Fasting for approximately 1 month is an obligatory practice for Muslims during the month of Ramadan. We attempted to evaluate the effect of the Ramadan fasting on the frequency of migraine attacks among observant Muslim migraine sufferers using a cohort cross-over study. Thirty-two observant Muslim migraine sufferers filled a migraine diary during the Ramadan month and the following month (control). Two patients failed to complete the fast because of migraine suffering. During the Ramadan month, the patient expressed 9.4 ± 4.3 migraine days in average (range 3-20) when compared with 3.7 ± 2.1 migraine days in average (range 1-10) during the control month (p < 0.001). This phenomenon was associated with longer duration of migraine, lower frequency of migraine attacks, and migraine with aura. It seemed to be less pronounced in patients experiencing throbbing headaches and in married patients. Previous prophylactic therapy did not dampen this. Physicians treating Muslim migraine patients should discuss potential Ramadan month exacerbation with their patients and provide counseling regarding the prevention of dehydration and caffeine withdrawal. Pharmacological prophylactic treatment should be considered.

A Case-control Study on the Relationship between Mycoplasma genitalium Infection in Women with Normal Pregnancy and Spontaneous Abortion using Polymerase Chain Reaction.

PubMed

Ramazanzadeh, Rashid; Khodabandehloo, Mazaher; Farhadifar, Fariba; Rouhi, Samaneh; Ahmadi, Amjad; Menbari, Shaho; Fallahi, Fariba; Mirnejad, Reza

2016-10-01

Mycoplasma genitalium infections are suggested as causes of a number of pathological outcomes in pregnant women. The aim of this study was to evaluate the frequency of M. genitalium infections among pregnant women and its association with spontaneous abortion. In this case-control study we included 109 women with spontaneous abortion with a gestational age of 10-20 weeks (patients), and 109 women with normal pregnancy with a gestational age of 20-37 weeks (controls) in Sanandaj, Iran. Using specific primers and extracted DNA from endocervical swabs, a polymerase chain reaction was conducted for the detection of M. genitalium infection in both groups. The frequency of M. genitalium infection in patient and control groups was one (0.91%) and three (2.75%), respectively. In both control and patient groups using Fisher test, no association between mycoplasma infection and spontaneous abortion was seen. M. genitalium may be positive in the genital tract of some pregnant women but was not associated with spontaneous abortion. Further powerful studies with larger sample sizes are needed for the determination of a possible role of M. genitalium in pregnancy outcomes and spontaneous abortion.

Interleukin-1 alpha variation is associated with the risk of developing preeclampsia.

PubMed

Ghasemi, Masoumeh; Kashani, Elham; Fayyaz, Azadeh; Attar, Marzieh; Shahbazi, Majid

2015-10-01

Preeclampsia is a syndrome that affects 5% of all pregnancies, producing substantial maternal and prenatal morbidity and mortality. Several studies have reported that cytokine genes are associated with the persistence of preeclampsia or the severity of the disease. The aim of this study is to investigate the relationships between the polymorphisms of interleukin-1 alpha-889 (IL-1A) gene and preeclampsia. Genomic DNA was extracted from the peripheral blood of 305 patients with preeclampsia and 325 normal controls from Sayyad Shirazi Hospital of Golestan University. Then subjected to SSP-PCR amplification. STATA software and the chi square test were used for statistic calculations. The frequencies of IL-1A -889 genotypes C/C, T/T and C/T in preeclampsia cases were 34.8%, 8.2%, 57% and in controls were 20.9%, 7.6% and 71.3% respectively. There was a significant 1.5 fold excess frequency in genotype C/C in cases (CI=1.44-3.07, OR=2.1, P=0.0001). There was a significant difference in the frequencies of alleles or genotypes in IL-1A promoter regions between patients with preeclampsia and the control group. Turkomans showed the highest frequency of the C allele and Sistanies had the lowest frequency of the C allele in preeclampsia compared to control groups (CI=1.5-3.9, OR=2.48, P=0.0001). Our findings suggest that the IL-1A-899C/C genotype and C allele are associated with susceptibility to preeclampsia. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.

Effect of autogenic training on drug consumption in patients with primary headache: an 8-month follow-up study.

PubMed

Zsombok, Terezia; Juhasz, Gabriella; Budavari, Agota; Vitrai, Jozsef; Bagdy, Gyorgy

2003-03-01

To examine the effects of Schultz-type autogenic training on headache-related drug consumption and headache frequency in patients with migraine, tension-type, or mixed (migraine plus tension-type) headache over an 8-month period. Behavioral treatments often are used alone or adjunctively for different types of headache. There are, however, only a few studies that have compared the efficacy and durability of the same treatment in different types of primary headache, and the effects of treatment on headache-related drug consumption rarely have been assessed even in these studies. Twenty-five women with primary headache (11 with mixed headache, 8 with migraine, and 6 with tension-type headache) were evaluated via an open-label, self-controlled, 8-month, follow-up study design. After an initial 4 months of observation, patients began learning Schultz-type autogenic training as modified for patients with headache. They practiced autogenic training on a regular basis for 4 months. Based on data from headache diaries and daily medication records, headache frequencies and the amounts of analgesics, "migraine-specific" drugs (ergots and triptans), and anxiolytics taken by the patients were compared in the three subgroups over the 8-month period. Results.-From the first month of implementation of autogenic training, headache frequencies were significantly reduced in patients with tension-type and mixed headache. Significant reduction in frequency was achieved in patients with migraine only from the third month of autogenic training. Decreases in headache frequencies were accompanied by decreases in consumption of migraine drugs and analgesics resulting in significant correlations among these parameters. Reduction in consumption of anxiolytic drugs was more rapid and robust in patients with tension-type headache compared to patients with migraine, and this outcome failed to show any correlation with change in headache frequency. Schultz-type autogenic training is an effective therapeutic approach that may lead to a reduction in both headache frequency and the use of headache medication.

Methylenetetrahydrofolate reductase gene polymorphisms and the risk of colorectal carcinoma in a sample of Egyptian individuals.

PubMed

El Awady, Mostafa K; Karim, Amr M; Hanna, Laila S; El Husseiny, Lamia A; El Sahar, Medhat; Menem, Hanan A Abdel; Meguid, Nagwa A

2009-01-01

The study was planned as a pilot study to investigate two common polymorphisms in the MTHFR gene c.677C > T and c.1298A > C and their association with enhanced risk of colorectal cancer (CRC) in a sample of Egyptian individuals. Venous blood samples were withdrawn from 35 cases of CRC and 68 healthy controls. Specimens from colonic and rectal carcinoma tissues in addition to cancer free tissues were obtained from all cases. Frequencies of MTHFR677T and 1298C alleles were significantly higher among cases of CRC tumor tissues (50% and 56%, respectively) than germ line alleles in CRC patients (33% and 41%, respectively) and healthy controls (21% and 35%, respectively). Frequencies of heterozygous and homoyzgous polymorphisms of MTHFR at positions 677 and 1298 in carcinoma tissues were always the highest. At position 677, TT and CT genotype frequencies were 17% and 66% with an odds ratio {OR} of 11 [95% confidence interval {CI} 2.39-50.59] and OR 8.34 [95%CI 2.97-23.92], respectively, in carcinoma tissues. While in the germ line of patients the genotype frequencies of 677TT and CT were 6% and 54% with OR 1.57 [95%CI 0.26-9.51] and 2.99 [95%CI 1.25-7.12], respectively, compared to controls (6% and 29%, respectively). The combined genotype MTHFR 1298CC + AC frequencies were 86% with OR 3.71 [95%CI 1.28-10.78] in carcinoma tissues, 69% with OR 1.35 [95%CI 0.57-3.21] in germ line of patients and 62% in controls. The combined genotype 677CT plus any of the following genotypes 1298AA, AC or CC enhanced risk of CRC, when comparing germ line DNA polymorphism of patients versus peripheral blood DNA of control subjects with OR 4.5 [95%CI 0.94-21.56], OR 3.12 [95%CI 0.79-12.36] and OR 18 [95%CI 1.56-207.5], respectively, suggesting strong genetic predisposition of certain Egyptian population to CRC. These results suggested that at least one C to T polymorphism at 677MTHFR gene is required to significantly increase the risk for CRC development. Further large scale studies are required to confirm the present findings.

Micronuclear and sister chromatid exchange analyses in peripheral lymphocytes of patients with oral lichen planus--a pilot study.

PubMed

Ergun, S; Warnakulasuriya, S; Duman, N; Saruhanoğlu, A; Sevinç, B; Oztürk, S; Ozel, S; Cefle, K; Palanduz, S; Tanyeri, H

2009-10-01

The purpose of this study was to determine the genetic instability of peripheral blood lymphocytes from patients diagnosed with oral lichen planus (OLP) by investigation of frequencies of micronuclei (MN) and sister chromatid exchange (SCE). A total of 22 newly diagnosed and untreated patients with OLP of same severity scores and twenty healthy controls participated in this study. They were all non-smokers with no previous history or family history of cancer. The periodontal status, flow rate and buffering capacity of whole mouth saliva were recorded. SCE and MN analyses were performed on peripheral blood lymphocytes of OLP patients and healthy controls. The frequencies of MN (50.00 +/- 22.36) and SCE (6.89 +/- 1.48) in OLP patients were found to be significantly elevated compared with that in normal individuals (25.20 +/- 9.52 and 5.93 +/- 1.31; z = 3.946, P = 0.0001; z = 2.346, P = 0.019). There were no significant differences in the MN frequency and SCE between the two subgroups with reticular or erosive types of OLP. These pilot data indicate an increased genomic instability in peripheral blood lymphocytes of a cohort of Turkish patients diagnosed with oral lichen planus as compared with that of healthy individuals. As patients with OLP may have an increased or potential risk for oral malignancy, these assays could be used in translational research to monitor beneficial effects of interventions and long-term prognosis.

Role of IL-1 Beta in the Development of Human TH17 Cells: Lesson from NLPR3 Mutated Patients

PubMed Central

Lasigliè, Denise; Traggiai, Elisabetta; Federici, Silvia; Alessio, Maria; Buoncompagni, Antonella; Accogli, Andrea; Chiesa, Sabrina; Penco, Federica; Martini, Alberto; Gattorno, Marco

2011-01-01

Background T helper 17 cells (TH-17) represent a lineage of effector T cells critical in host defence and autoimmunity. In both mouse and human IL-1β has been indicated as a key cytokine for the commitment to TH-17 cells. Cryopyrin-associated periodic syndromes (CAPS) are a group of inflammatory diseases associated with mutations of the NLRP3 gene encoding the inflammasome component cryopyrin. In this work we asked whether the deregulated secretion of IL-1β secondary to mutations characterizing these patients could affect the IL-23/IL-17 axis. Methodology/Principal Findings A total of 11 CAPS, 26 systemic onset juvenile idiopathic arthritis (SoJIA) patients and 20 healthy controls were analyzed. Serum levels of IL-17 and IL-6 serum were assessed by ELISA assay. Frequency of TH17 cells was quantified upon staphylococcus enterotoxin B (SEB) stimulation. Secretion of IL-1β, IL-23 and IL-6 by monocyte derived dendritic cells (MoDCs), were quantified by ELISA assay. A total of 8 CAPS and 11 SoJIA patients were also analysed before and after treatment with IL-1β blockade. Untreated CAPS patients showed significantly increased IL-17 serum levels as well as a higher frequency of TH17 compared to control subjects. On the contrary, SoJIA patients displayed a frequency of TH17 similar to normal donors, but were found to have significantly increased serum level of IL-6 when compared to CAPS patients or healthy donors. Remarkably, decreased IL-17 serum levels and TH17 frequency were observed in CAPS patients following in vivo IL-1β blockade. On the same line, MoDCs from CAPS patients exhibited enhanced secretion of IL-1β and IL-23 upon TLRs stimulation, with a reduction after anti-IL-1 treatment. Conclusion/Significance These findings further support the central role of IL-1β in the differentiation of TH17 in human inflammatory conditions. PMID:21637346

Distribution of oral mucosal bacteria with mecA in patients undergoing hematopoietic cell transplantation.

PubMed

Ebinuma, Takayuki; Soga, Yoshihiko; Sato, Takamaro; Matsunaga, Kazuyuki; Kudo, Chieko; Maeda, Hiroshi; Maeda, Yoshinobu; Tanimoto, Mitsune; Takashiba, Shogo

2014-06-01

We recently reported frequent detection of antibiotic-resistant bacteria on the oral mucosa during the period of hematopoietic cell transplantation (HCT) and suggested an association between oral mucositis and antibiotic-resistant bacterial infection. Methicillin-resistant Staphylococcus spp. were frequently detected, and the oral cavity may be a reservoir of the gene mediating methicillin resistance, mecA. Here, we examined the frequency of mecA carriers in patients undergoing HCT. Fifty-nine patients (male (M) = 37, female (F) = 22, 47.3 ± 11.0 years) receiving HCT were enrolled in this study. Buccal swab samples were obtained four times from day -7 to day +20 (once/week), and mecA was detected by PCR. Fifty-two subjects without systemic disease, who completed dental treatment, especially periodontal treatment (M = 21, F = 31, 55.4 ± 14.2 years), were also enrolled as controls and checked for mecA on the oral mucosa. Seventy-six percent (45/59) of the HCT patients carried mecA at least once in the study period (days -7 to +20), while no control subjects had mecA. The frequency of mecA carriers was 19.2 % from days -7 to -1, while it was significantly increased on days +7 to +13 and +14 to +20, with frequencies of 60.9 and 63.2 %, respectively (P < 0.01, ANOVA). mecA was detected in oral mucosa of patients undergoing HCT. The high detection frequency of staphylococci resistant to penicillin and beta-lactams in our recent report was supported.

Visual Contrast Sensitivity in Early-Stage Parkinson's Disease.

PubMed

Ming, Wendy; Palidis, Dimitrios J; Spering, Miriam; McKeown, Martin J

2016-10-01

Visual impairments are frequent in Parkinson's disease (PD) and impact normal functioning in daily activities. Visual contrast sensitivity is a powerful nonmotor sign for discriminating PD patients from controls. However, it is usually assessed with static visual stimuli. Here we examined the interaction between perception and eye movements in static and dynamic contrast sensitivity tasks in a cohort of mildly impaired, early-stage PD patients. Patients (n = 13) and healthy age-matched controls (n = 12) viewed stimuli of various spatial frequencies (0-8 cyc/deg) and speeds (0°/s, 10°/s, 30°/s) on a computer monitor. Detection thresholds were determined by asking participants to adjust luminance contrast until they could just barely see the stimulus. Eye position was recorded with a video-based eye tracker. Patients' static contrast sensitivity was impaired in the intermediate spatial-frequency range and this impairment correlated with fixational instability. However, dynamic contrast sensitivity and patients' smooth pursuit were relatively normal. An independent component analysis revealed contrast sensitivity profiles differentiating patients and controls. Our study simultaneously assesses perceptual contrast sensitivity and eye movements in PD, revealing a possible link between fixational instability and perceptual deficits. Spatiotemporal contrast sensitivity profiles may represent an easily measurable metric as a component of a broader combined biometric for nonmotor features observed in PD.

Reduced power spectra of heart rate variability are correlated with anxiety in patients with mild traumatic brain injury.

PubMed

Liao, Kuo-Hsing; Sung, Chih-Wei; Chu, Shu-Fen; Chiu, Wen-Ta; Chiang, Yung-Hsiao; Hoffer, Barry; Ou, Ju-Chi; Chen, Kai-Yun; Tsai, Shin-Han; Lin, Chien-Min; Chen, Gunng-Shinng; Li, Wei-Jiun; Wang, Jia-Yi

2016-09-30

Anxiety is one of the most frequently diagnosed emotional disorders after a mild traumatic brain injury (mTBI); however, predictors of anxiety after an mTBI remain uncertain. Recent research indicated that anxiety is associated with abnormalities in the autonomic nervous system (ANS) which can be evaluated by a power spectral analysis of heart rate variability (HRV). In this study, we investigated whether a frequency-domain analysis of HRV could correlate with the occurrence of anxiety in mTBI patients. We recruited 165 Taiwanese patients diagnosed with an mTBI and 82 volunteer healthy controls from three affiliated hospitals of Taipei Medical University during 2010-2014. The Beck Anxiety Inventory (BAI) was assessed at the 1st, 6th, and 12th weeks. We found that mTBI patients were more vulnerable to anxiety compared to healthy controls. The power spectral density of HRV was significantly lower in mTBI patients than in healthy controls. A correlation analysis indicated that anxiety was negatively significantly correlated with low- and high-frequency power at the 6th week. Our study suggests the clinical usefulness of HRV as a potential noninvasive tool for evaluating later anxiety in mTBI patients. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

Alpha-1-antitrypsin phenotypes in adult liver disease patients

PubMed Central

Alempijevic, Tamara; Milutinovic, Aleksandra Sokic; Kovacevic, Nada

2009-01-01

Alpha-1-antitrypsin (AAT) is an important serine protease inhibitor in humans. Hereditary alpha-1-antitrypsin deficiency (AATD) affects lungs and liver. Liver disease caused by AATD in paediatric patients has been previously well documented. However, the association of liver disease with alpha-1-antitrypsin gene polymorphisms in adults is less clear. Therefore, we aimed to study AAT polymorphisms in adults with liver disease. We performed a case-control study. AAT polymorphisms were investigated by isoelectric focusing in 61 patients with liver cirrhosis and 9 patients with hepatocellular carcinoma. The control group consisted of 218 healthy blood donors. A significant deviation of observed and expected frequency of AAT phenotypes from Hardy-Weinberg equilibrium (chi-square = 34.77, df 11, P = 0.000) in the patient group was caused by a higher than expected frequency of Pi ZZ homozygotes (f = 0.0143 and f = 0.0005, respectively, P = 0.000). In addition, Pi M homozygotes were more frequent in patients than in controls (63% and 46%, respectively, P = 0.025). Our study results show that Pi ZZ homozygosity in adults could be associated with severe liver disease. Presence of Pi M homozygosity could be associated with liver disease via some mechanism different from Z allele-induced liver damage through accumulation of AAT polymers. PMID:19961268

[Study on effects of low frequency pulse plus auricular point magnetic therapy on electrogastrogram and clinical therapeutic effect in the patient of functional dyspepsia].

PubMed

Wang, Yan-Gang; Yao, Shu-Kun

2007-04-01

To compare therapeutic effects of low frequency pulse plus auricular point magnetic therapy and prepulsid on functional dyspepsia (FD). Fifty cases of FD were randomly divided into a treatment group and a control group. The treatment group were treated with low frequency pulse stimulation on Zhongwan (CV 12), Weishu (BL 21), Neiguan (PC 6), Zusanli (ST 36), with Fenglong (ST 40) and Sanyinjiao (SP 6) selected according to syndrome differentiation, once a day, 30 min each session. The control group were treated with oral administration of prepulsid. Five days constituted one course. The scores of symptoms and parameters of electrogastrogram (EGG) before and after treatment and the therapeutic effect were investigated. After treatment, the symptom scores significantly decreased (P < 0.01), with a significant difference in the decrease of symptom scores between the two groups (P < 0.05); and EGG parameters were improved (P < 0.05). The total effective rate of 93.3% in the treatment group was better than 75.0% in the control group with a significant difference between the two groups (P < 0.05). Low frequency pulse plus auricular point magnetic therapy can significantly improve the clinical symptoms and gastric activities in the patient of FD, with a better therapeutic effect than prepulsid.

A protective effect of the BDNF Met/Met genotype in obesity in healthy Caucasian subjects but not in patients with coronary heart disease.

PubMed

Sustar, A; Nikolac Perkovic, M; Nedic Erjavec, G; Svob Strac, D; Pivac, N

2016-08-01

Brain-derived neurotrophic factor (BDNF) is a neurotrophic factor with an important role in the regulation of body weight, body mass index (BMI) and obesity. Increased BMI that leads to obesity is a substantial risk factor for coronary heart disease (CHD). The functional BDNF Val66Met polymorphism (rs6265) has been associated with CHD, obesity and BMI. The aim of the study was to determine the association between BDNF rs6265 polymorphism and CHD and/or BMI in patients with CHD and healthy control subjects. The study included 704 Caucasian subjects: 206 subjects with CHD and 498 healthy control subjects. The BDNF rs6265 genotype frequency was similar in male and female subjects, and there were no differences in the frequency of the BDNF rs6265 genotypes in 206 patients with CHD and in 498 healthy subjects. When study participants were subdivided according to the BMI categories into normal weight, overweight and obese subjects, significantly different BDNF rs6265 genotype frequency was found within healthy subjects, but not within patients with CHD. Healthy subjects, but not patients with CHD, subdivided into carriers of the Met/Met, Met/Val and Val/Val genotype, had different BMI scores. The BDNF rs6265 genotype frequency was similar in male and female subjects, and there were no differences in the frequency of the BDNF rs6265 genotypes in 206 patients with CHD and in 498 healthy subjects. When study participants were subdivided according to the BMI categories into normal weight, overweight and obese subjects, significantly different BDNF rs6265 genotype frequency was found within healthy subjects, but not within patients with CHD. Healthy subjects, but not patients with CHD, subdivided into carriers of the Met/Met, Met/Val and Val/Val genotype, had different BMI scores. BDNF rs6265 polymorphism was not associated with a diagnosis of CHD or with BMI categories among patients with CHD. In contrast, healthy Caucasians, carriers of the BDNF Met/Met genotype, had more frequently normal weight compared to carriers of other BDNF genotypesBDNF rs6265 polymorphism was not associated with a diagnosis of CHD or with BMI categories among patients with CHD. In contrast, healthy Caucasians, carriers of the BDNF Met/Met genotype, had more frequently normal weight compared to carriers of other BDNF genotypes. BDNF rs6265 polymorphism is associated with BMI categories, and the BDNF Met/Met genotype has a protective role in obesity in healthy subjects, while this effect was not present in patients with CHD.

Substance misuse and sexual function in adolescents with chronic diseases.

PubMed

Araújo, Priscila; Carvalho, Márcio Guilherme Nunes; van Weelden, Marlon; Lourenço, Benito; Queiroz, Lígia Bruni; Silva, Clovis Artur

2016-09-01

To evaluate alcohol/tobacco and/or illicit drug misuse in Chronic Diseases (CDs). A cross-sectional study with 220 CDs adolescents and 110 healthy controls including: demographic/anthropometric data; puberty markers; modified questionnaire evaluating sexual function, alcohol/smoking/illicit drug misuse and bullying; and the physician-conducted CRAFFT (car/relax/alone/forget/friends/trouble) screen tool for substance abuse/dependence high risk. The frequencies of alcohol/tobacco and/or illicit drug use were similar in both groups (30% vs. 34%, p=0.529), likewise the frequencies of bullying (42% vs. 41%, p=0.905). Further analysis solely in CDs patients that used alcohol/tobacco/illicit drug versus those that did not use showed that the median current age [15 (11-18) vs. 14 (10-18) years, p<0.0001] and education years [9 (5-14) vs. 8 (3-12) years, p<0.0001] were significant higher in substance use group. The frequencies of Tanner 5 (p<0.0001), menarche (p<0.0001) and spermarche (p=0.001) were also significantly higher in patients with CDs that used alcohol/tobacco/illicit, likewise sexual activity (23% vs. 3%, p<0.0001). A trend of a low frequency of drug therapy was observed in patients that used substances (70% vs. 82%, p=0.051). A positive correlation was observed between CRAFFT score and current age in CD patients (p=0.005, r=+0.189) and controls (p=0.018, r=+0.226). A later age was evidenced in CDs patients that reported licit/ilicit drug misuse. In CDs adolescent, substance use was more likely to have sexual intercourse. Our study reinforces that these patients should be systematically screened by pediatricians for drug related health behavioral patterns. Copyright © 2015 Sociedade de Pediatria de São Paulo. Publicado por Elsevier Editora Ltda. All rights reserved.

Effect of intravesical Resiniferatoxin (RTX) on lower urinary tract symptoms, urodynamic parameters, and quality of life of patients with urodynamic increased bladder sensation.

PubMed

Apostolidis, Apostolos; Gonzales, Gwendoline E; Fowler, Clare J

2006-12-01

Intravesical resiniferatoxin (RTX) has been used with variable efficacy in the treatment of detrusor overactivity (DO). Patients with interstitial cystitis (IC) failed to benefit from this treatment, but a single placebo-controlled study in patients with non-IC painful bladders showed that RTX was effective in the short-term. We investigated the efficacy of intravesical RTX in patients with urgency and frequency due to increased bladder sensation. Patients with intractable urgency and frequency, with or without urgency incontinence or bladder pain/discomfort, and with no urodynamic evidence of DO were recruited. After a single intravesical instillation of 100ml 50 nM RTX solution, patients were followed at 1, 3, and 6 mo for changes in urodynamics, bladder diary, the King's Health Questionnaire (KHQ), and degree of bladder pain. Fifteen patients (mean age, 52.5 yr) were treated. RTX significantly improved maximum cystometric capacity, volume at first desire to void, mean micturition volume, 24-h frequency, and daytime frequency for up to 6 mo after treatment. The overall KHQ score improved at all time points, with sustained improvements in the Symptom Severity, Incontinence Impact, and Personal Relationships domains. A >50% decrease in pain was reported by five of seven patients with painful bladders at 1 mo, but only one of seven at 6 mo. In our small open-label study, a single administration of intravesical RTX in patients with frequency and urgency due to increased bladder sensation significantly improved lower urinary tract symptoms, urodynamic parameters, and quality of life for up to 6 mo.

Dacrystic seizures: demographic, semiologic, and etiologic insights from a multicenter study in long-term video-EEG monitoring units.

PubMed

Blumberg, Julie; Fernández, Iván Sánchez; Vendrame, Martina; Oehl, Bernhard; Tatum, William O; Schuele, Stephan; Alexopoulos, Andreas V; Poduri, Annapurna; Kellinghaus, Christoph; Schulze-Bonhage, Andreas; Loddenkemper, Tobias

2012-10-01

To provide an estimate of the frequency of dacrystic seizures in video-electroencephalography (EEG) long-term monitoring units of tertiary referral epilepsy centers and to describe the clinical presentation of dacrystic seizures in relationship to the underlying etiology. We screened clinical records and video-EEG reports for the diagnosis of dacrystic seizures of all patients admitted for video-EEG long-term monitoring at five epilepsy referral centers in the United States and Germany. Patients with a potential diagnosis of dacrystic seizures were identified, and their clinical charts and video-EEG recordings were reviewed. We included only patients with: (1) stereotyped lacrimation, sobbing, grimacing, yelling, or sad facial expression; (2) long-term video-EEG recordings (at least 12 h); and (3) at least one brain magnetic resonance imaging (MRI) study. Nine patients (four female) with dacrystic seizures were identified. Dacrystic seizures were identified in 0.06-0.53% of the patients admitted for long-term video-EEG monitoring depending on the specific center. Considering our study population as a whole, the frequency was 0.13%. The presence of dacrystic seizures without other accompanying clinical features was found in only one patient. Gelastic seizures accompanied dacrystic seizures in five cases, and a hypothalamic hamartoma was found in all of these five patients. The underlying etiology in the four patients with dacrystic seizures without gelastic seizures was left mesial temporal sclerosis (three patients) and a frontal glioblastoma (one patient). All patients had a difficult-to-control epilepsy as demonstrated by the following: (1) at least three different antiepileptic drugs were tried in each patient, (2) epilepsy was well controlled with antiepileptic drugs in only two patients, (3) six patients were considered for epilepsy surgery and three of them underwent a surgical/radiosurgical or radioablative procedure. Regarding outcome, antiepileptic drugs alone achieved seizure freedom in two patients and did not change seizure frequency in another patient. Radiosurgery led to moderately good seizure control in one patient and did not improve seizure control in another patient. Three patients were or are being considered for epilepsy surgery on last follow-up. One patient remains seizure free 3 years after epilepsy surgery. Dacrystic seizures are a rare but clinically relevant finding during video-EEG monitoring. Our data show that when the patient has dacrystic and gelastic seizures, the cause is a hypothalamic hamartoma. In contrast, when dacrystic seizures are not accompanied by gelastic seizures the underlying lesion is most commonly located in the temporal cortex. Wiley Periodicals, Inc. © 2012 International League Against Epilepsy.

A rare FANCA gene variation as a breast cancer susceptibility allele in an Iranian population

PubMed Central

Abbasi, Sakineh; Rasouli, Mina

2017-01-01

Fanconi Anemia (FA) is an autosomal recessive syndrome characterized by congenital abnormalities, progressive bone marrow failure and Fanconi anemia complementation group A (FANCA) is also a potential breast and ovarian cancer susceptibility gene. A novel allele with tandem duplication of 13 base pair sequence in promoter region was identified. To investigate whether the 13 base pair sequence of tandem duplication in promoter region of the FANCA gene is of high penetrance in patients with breast cancer and to determine if the presence of the duplicated allele was associated with an altered risk of breast cancer, the present study screened DNA in blood samples from 304 breast cancer patients and 295 normal individuals as controls. The duplication allele had a frequency of 35.4 and 21.2% in patients with breast cancer and normal controls, respectively. There was a significant increase in the frequency of the duplication allele in patients with familial breast cancer compared with controls (45.1%, P=0.001). Furthermore, the estimated risk of breast cancer in individuals with a homozygote [odds ratio (OR), 4.093; 95% confidence intervals (CI), 1.957–8.561] or heterozygote duplicated genotype (OR, 3.315; 95% CI, 1.996–5.506) was higher compared with the corresponding normal homozygote genotype. In conclusion, the present study indicated that the higher the frequency of the duplicated allele, the higher the risk of breast cancer. To the best of our knowledge, the present study is the first to report FANCA gene duplication in patients with breast cancer. PMID:28440412

A rare FANCA gene variation as a breast cancer susceptibility allele in an Iranian population.

PubMed

Abbasi, Sakineh; Rasouli, Mina

2017-06-01

Fanconi Anemia (FA) is an autosomal recessive syndrome characterized by congenital abnormalities, progressive bone marrow failure and Fanconi anemia complementation group A (FANCA) is also a potential breast and ovarian cancer susceptibility gene. A novel allele with tandem duplication of 13 base pair sequence in promoter region was identified. To investigate whether the 13 base pair sequence of tandem duplication in promoter region of the FANCA gene is of high penetrance in patients with breast cancer and to determine if the presence of the duplicated allele was associated with an altered risk of breast cancer, the present study screened DNA in blood samples from 304 breast cancer patients and 295 normal individuals as controls. The duplication allele had a frequency of 35.4 and 21.2% in patients with breast cancer and normal controls, respectively. There was a significant increase in the frequency of the duplication allele in patients with familial breast cancer compared with controls (45.1%, P=0.001). Furthermore, the estimated risk of breast cancer in individuals with a homozygote [odds ratio (OR), 4.093; 95% confidence intervals (CI), 1.957‑8.561] or heterozygote duplicated genotype (OR, 3.315; 95% CI, 1.996‑5.506) was higher compared with the corresponding normal homozygote genotype. In conclusion, the present study indicated that the higher the frequency of the duplicated allele, the higher the risk of breast cancer. To the best of our knowledge, the present study is the first to report FANCA gene duplication in patients with breast cancer.

Daily corticosteroids reduce infection-associated relapses in frequently relapsing nephrotic syndrome: a randomized controlled trial.

PubMed

Gulati, Ashima; Sinha, Aditi; Sreenivas, Vishnubhatla; Math, Aparna; Hari, Pankaj; Bagga, Arvind

2011-01-01

Relapses of nephrotic syndrome often follow minor infections, commonly of the upper respiratory tract. Daily administration of maintenance prednisolone during intercurrent infections was examined to determine whether the treatment reduces relapse rates in children with frequently relapsing nephrotic syndrome. In a randomized controlled trial (nonblind, parallel group, tertiary-care hospital), 100 patients with idiopathic, frequently relapsing nephrotic syndrome eligible for therapy with prolonged low-dose, alternate-day prednisolone with or without levamisole were randomized to either receive their usual dose of alternate-day prednisolone daily for 7 days during intercurrent infections (intervention group) or continue alternate-day prednisolone (controls). Primary outcome was assessed by comparing the rates of infection-associated relapses at 12-month follow-up. Secondary outcomes were the frequency of infections and the cumulative amount of prednisolone received in both groups. Patients in the intervention group showed significantly lower infection-associated (rate difference, 0.7 episodes/patient per year; 95% confidence intervals [CI] 0.3, 1.1) and lower total relapse rates (0.9 episodes/patient per year, 95% CI 0.4, 1.4) without increase in steroid toxicity. Poisson regression, adjusted for occurrence of infections, showed that daily administration of prednisolone during infections independently resulted in 59% reduction in frequency of relapses (rate ratio, 0.41; 95% CI 0.3, 0.6). For every six patients receiving this intervention, one showed a reduction of relapse frequency to less than three per year. Daily administration of maintenance doses of prednisolone, during intercurrent infections, significantly reduces relapse rates and the proportion of children with frequently relapsing nephrotic syndrome.

Interaction of malaria with a common form of severe thalassemia in an Asian population

PubMed Central

O'Donnell, A.; Premawardhena, A.; Arambepola, M.; Samaranayake, R.; Allen, S. J.; Peto, T. E. A.; Fisher, C. A.; Cook, J.; Corran, P. H.; Olivieri, Nancy F.; Weatherall, D. J.

2009-01-01

In many Asian populations, the commonest form of severe thalassemia results from the coinheritance of HbE and β thalassemia. The management of this disease is particularly difficult because of its extreme clinical diversity; although some genetic and adaptive factors have been identified as phenotypic modifiers, the reasons remain unclear. Because the role of the environment in the course of severe thalassemia has been neglected completely and because malaria due to both Plasmodium falciparum and Plasmodium vivax has been prevalent in Sri Lanka, we carried out a pilot study of patients with HbE β thalassemia that showed high frequencies of antibodies to both parasite species and that 28.6% of the children had DNA-based evidence of current infection with P. vivax. Malarial antibodies then were assessed in patients with HbE β thalassemia compared with those in age-matched controls. There was a significant increase in the frequency of antibodies in the thalassemic patients, particularly against P. vivax and in young children. There was also a higher frequency in those who had been splenectomized compared with those with intact spleens, although in the latter it was still higher than that in the controls. The thalassemic patients showed significant correlations between malaria antibody status and phenotype. Patients with HbE β thalassemia may be more prone to malaria, particularly P. vivax, which is reflected in their clinical severity. Because P. vivax malaria is widespread in Asia, further studies of its interaction with HbE β thalassemia and related diseases are required urgently as a part of ongoing thalassemia control programs. PMID:19841268

Evaluation of the effect of aromatherapy with lavender essential oil on post-tonsillectomy pain in pediatric patients: a randomized controlled trial.

PubMed

Soltani, Rasool; Soheilipour, Saeed; Hajhashemi, Valiollah; Asghari, Gholamreza; Bagheri, Mahdi; Molavi, Mahdi

2013-09-01

To evaluate the effect of aromatherapy with Lavandula angustifolia essential oil on post-tonsillectomy pain in pediatric patients. This was a randomized controlled prospective clinical trial. In this study, 48 post-tonsillectomy patients aged 6-12 years were randomly assigned to two groups (24 patients in each group). After tonsillectomy surgery, all patients received acetaminophen (10-15 mg/kg/dose, PO) every 6h as necessary to relieve pain. The patients of the case group also inhaled lavender essential oil. The frequencies of daily use of acetaminophen and nocturnal awakening due to pain, and pain intensity (evaluated using visual analog scale [VAS]) were recorded for each patient for 3 days after surgery. Finally, the mean values of variables were compared between two groups separately for each post-operative day. The use of lavender essential oil caused statistically significant reduction in daily use of acetaminophen in all three post-operative days but had not significant effects on pain intensity and frequency of nocturnal awakening. Aromatherapy with lavender essential oil decreases the number of required analgesics following tonsillectomy in pediatric patients. Copyright © 2013 Elsevier Ireland Ltd. All rights reserved.

Lucid Dreaming in Narcolepsy

PubMed Central

Dodet, Pauline; Chavez, Mario; Leu-Semenescu, Smaranda; Golmard, Jean-Louis; Arnulf, Isabelle

2015-01-01

Objective: To evaluate the frequency, determinants and sleep characteristics of lucid dreaming in narcolepsy Settings: University hospital sleep disorder unit Design: Case-control study Participants: Consecutive patients with narcolepsy and healthy controls Methods: Participants were interviewed regarding the frequency and determinants of lucid dreaming. Twelve narcolepsy patients and 5 controls who self-identified as frequent lucid dreamers underwent nighttime and daytime sleep monitoring after being given instructions regarding how to give an eye signal when lucid. Results: Compared to 53 healthy controls, the 53 narcolepsy patients reported more frequent dream recall, nightmares and recurrent dreams. Lucid dreaming was achieved by 77.4% of narcoleptic patients and 49.1% of controls (P < 0.05), with an average of 7.6 ± 11 vs. 0.3 ± 0.8 lucid dreams/month (P < 0.0001). The frequency of cataplexy, hallucinations, sleep paralysis, dyssomnia, HLA positivity, and the severity of sleepiness were similar in narcolepsy with and without lucid dreaming. Seven of 12 narcoleptic (and 0 non-narcoleptic) lucid dreamers achieved lucid REM sleep across a total of 33 naps, including 14 episodes with eye signal. The delta power in the electrode average, in delta, theta, and alpha powers in C4, and coherences between frontal electrodes were lower in lucid than non-lucid REM sleep in spectral EEG analysis. The duration of REM sleep was longer, the REM sleep onset latency tended to be shorter, and the percentage of atonia tended to be higher in lucid vs. non-lucid REM sleep; the arousal index and REM density and amplitude were unchanged. Conclusion: Narcoleptics have a high propensity for lucid dreaming without differing in REM sleep characteristics from people without narcolepsy. This suggests narcolepsy patients may provide useful information in future studies on the nature of lucid dreaming. Citation: Dodet P, Chavez M, Leu-Semenescu S, Golmard JL, Arnulf I. Lucid dreaming in narcolepsy. SLEEP 2015;38(3):487–497. PMID:25348131

Acoustic analysis of voice in children with cleft palate and velopharyngeal insufficiency.

PubMed

Villafuerte-Gonzalez, Rocio; Valadez-Jimenez, Victor M; Hernandez-Lopez, Xochiquetzal; Ysunza, Pablo Antonio

2015-07-01

Acoustic analysis of voice can provide instrumental data concerning vocal abnormalities. These findings can be used for monitoring clinical course in cases of voice disorders. Cleft palate severely affects the structure of the vocal tract. Hence, voice quality can also be also affected. To study whether the main acoustic parameters of voice, including fundamental frequency, shimmer and jitter are significantly different in patients with a repaired cleft palate, as compared with normal children without speech, language and voice disorders. Fourteen patients with repaired unilateral cleft lip and palate and persistent or residual velopharyngeal insufficiency (VPI) were studied. A control group was assembled with healthy volunteer subjects matched by age and gender. Hypernasality and nasal emission were perceptually assessed in patients with VPI. Size of the gap as assessed by videonasopharyngoscopy was classified in patients with VPI. Acoustic analysis of voice including Fundamental frequency (F0), shimmer and jitter were compared between patients with VPI and control subjects. F0 was significantly higher in male patients as compared with male controls. Shimmer was significantly higher in patients with VPI regardless of gender. Moreover, patients with moderate VPI showed a significantly higher shimmer perturbation, regardless of gender. Although future research regarding voice disorders in patients with VPI is needed, at the present time it seems reasonable to include strategies for voice therapy in the speech and language pathology intervention plan for patients with VPI. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.

Brain Oscillatory Correlates of Altered Executive Functioning in Positive and Negative Symptomatic Schizophrenia Patients and Healthy Controls.

PubMed

Berger, Barbara; Minarik, Tamas; Griesmayr, Birgit; Stelzig-Schoeler, Renate; Aichhorn, Wolfgang; Sauseng, Paul

2016-01-01

Working Memory and executive functioning deficits are core characteristics of patients suffering from schizophrenia. Electrophysiological research indicates that altered patterns of neural oscillatory mechanisms underpinning executive functioning are associated with the psychiatric disorder. Such brain oscillatory changes have been found in local amplitude differences at gamma and theta frequencies in task-specific cortical areas. Moreover, interregional interactions are also disrupted as signified by decreased phase coherence of fronto-posterior theta activity in schizophrenia patients. However, schizophrenia is not a one-dimensional psychiatric disorder but has various forms and expressions. A common distinction is between positive and negative symptomatology but most patients have both negative and positive symptoms to some extent. Here, we examined three groups-healthy controls, predominantly negative, and predominantly positive symptomatic schizophrenia patients-when performing a working memory task with increasing cognitive demand and increasing need for executive control. We analyzed brain oscillatory activity in the three groups separately and investigated how predominant symptomatology might explain differences in brain oscillatory patterns. Our results indicate that differences in task specific fronto-posterior network activity (i.e., executive control network) expressed by interregional phase synchronization are able to account for working memory dysfunctions between groups. Local changes in the theta and gamma frequency range also show differences between patients and healthy controls, and more importantly, between the two patient groups. We conclude that differences in oscillatory brain activation patterns related to executive processing can be an indicator for positive and negative symptomatology in schizophrenia. Furthermore, changes in cognitive and especially executive functioning in patients are expressed by alterations in a task-specific fronto-posterior connectivity even in the absence of behavioral impairment.

Specificity and sensitivity of objective tests to detect possible malingering in fibromyalgia: a case-control study in 211 Spanish patients.

PubMed

Belenguer-Prieto, Rafael; Morales-Espinoza, Emma M; Martín-González, Rosa M; Brito-Zerón, Pilar; Pastor-Oliver, Jose F; Kostov, Belchin; Buss, David; Gómez-Gálvez, Cayetano; Salazar-Cifre, Antonio; Sisó-Almirall, Antoni; Ramos-Casals, Manuel

2013-01-01

To characterise patients diagnosed with fibromyalgia (FM) who present a clinical profile suggestive of simulation. Observational case-control study of 218 patients who met the classification criteria for FM. The profile supporting simulation was based on the proposed criteria for evaluating disability related to the simulation of pain. Compared with controls (n=105), patients with suspected simulation of FM (n=106) had a higher mean age (52.5 vs. 49.2 years, p=0.003), a higher frequency of primary education (88.7% vs. 58.1%; p<0.001), a higher percentage of separated/widowed persons (33.9% vs. 8.6%, p<0.001), a higher frequency of psychiatric disorders (100% vs. 67.6%, p<0.001), a higher mean number of positive 'control' tender points (4.5 vs. 1.3, p<0.001), a higher mean FIQ questionnaire score (89.8 vs. 68.8, p<0.001) and a lower mean LHS questionnaire score (41.0 vs. 59.9, p<0.001). Patients with suspected simulation were able to walk a shorter distance in the 6-minute walk test than controls (231.0 vs. 356.3 metres, p<0.001), while the appearance of allodynia was achieved with a significantly lower mmHg pressure (159.8 vs. 229.9 mm Hg, p<0.001). Some physical/functional tests, together with the administration of specific questionnaires, may identify a subgroup of patients with FM with a profile consistent with simulation or malingering; these patients have a differentiated demographic and psychiatric profile in comparison with FM patients without a profile of simulation.

Behçet's disease and hereditary periodic fever syndromes: casual association or causal relationship?

PubMed

Espinosa, G; Arostegui, J I; Plaza, S; Rius, J; Cervera, R; Yagüe, J; Font, J

2005-01-01

Mutations in the MEFV and the type 1 TNF receptor (TNFRSF 1A) genes have recently been linked to familial Mediterranean fever (FMF) and TNF receptor-associated periodic syndrome (TRAPS), respectively. A higher prevalence of Behçet's disease (BD) among FMF patients has been described compared to the general population. The aim of this study was to evaluate whether FMF TRAPS and BD could be genetically related. We screened a cohort of 50 BD patients and 100 healthy subjects for the common MEFV and TNFRSF 1A mutations. An initial screening of exons 10 and 2 of the MEFV gene and exon 4 of the TNFRSF 1A was performed in all chromosomes. The heterozygous MEFV mutation (K695R) was found in one (2%) BD patient. Analysis for FMF mutations in the control group revealed that 5 (5%) individuals bore MEFV gene mutations (3 were heterozygous for the E148Q and 2 were heterozygous for the A744S). At codon 202, there were no differences in allele frequencies between BD and control population: 73%R 27%Q in the BD patients vs 75%R 25%Q in controls. Concerning mutations in the TNFRSF 1A gene, the R92Q mutation was present in heterozygous state in one (2%) BD patient and in 4 (4%) controls without differences between allele frequencies: 99%R 1%Q in BD patients vs 98%R 2%Q in controls, respectively. There was no association between the clinical manifestations of BD patients and the presence of a particular polymorphism or a mutation. Neither FMF nor TRAPS are genetically associated with BD in our cohort of Spanish patients.

Association of Notch3 single-nucleotide polymorphisms and lacunar infarctions in patients.

PubMed

Li, Ying; Liu, Nan; Chen, Hui; Huang, Yonghua; Zhang, Weiwei

2016-01-01

Cerebrovascular disease is a leading cause of morbidity and mortality worldwide, which is influenced by genetic and environmental factors. The aim of the present study was to examine the association between single-nucleotide polymorphisms (SNPs) in Notch3 exons 3-6 and lacunar infarction by comparing SNPs between control subjects and those with lacunar infarction. A single-center case-control study was conducted to investigate the association between Notch3 SNPs and risk of stroke. A total of 140 patients were included in the study, 30 of whom had no infarction (control) and 110 had lacunar infarction. Lacunar patients were divided into the 'pure lacunar' and 'lacunar + leukoarasis' groups based on brain imaging. All the patients were of Chinese Han ethnicity, and the male to female ratio was 84:56. Patient clinical histories included hypertension, diabetes mellitus (DM), hyperlipidemia, and heart disease were recorded. The Notch3 sequence was obtained from the National Centser for Biotechnology Information database. Notch3 was amplified by polymerase chain reaction from whole blood samples, and exons 3-6 were sequenced to identify SNPs. The result showed that there was no significant difference in the prevalence of hypertension, DM, hyperlipidemia, and heart disease between the control and lacunar infarction patients. Notabley, the age of the lacunar + leukoarasis patients was significantly higher than that of the control and pure lacunar patients (P<0.05). Eight SNPs were detected at low frequencies, and only rs3815388 and rs1043994 exhibited slightly higher frequencies. A χ 2 test indicated that Notch3 SNPs, particularly rs1043994, were associated with lacunar infarction (P<0.05). In conclusion, the result of the present study have shown that Notch3 SNPs, particularly rs1043994, are associated with lacunar infarction.

Time- and frequency-domain parameters of heart rate variability and sympathetic skin response in Parkinson's disease.

PubMed

Maetzler, Walter; Karam, Marie; Berger, Monika Fruhmann; Heger, Tanja; Maetzler, Corina; Ruediger, Heinz; Bronzova, Juliana; Lobo, Patricia Pita; Ferreira, Joaquim J; Ziemssen, Tjalf; Berg, Daniela

2015-03-01

The autonomic nervous system (ANS) is regularly affected in Parkinson's disease (PD). Information on autonomic dysfunction can be derived from e.g. altered heart rate variability (HRV) and sympathetic skin response (SSR). Such parameters can be quantified easily and measured repeatedly which might be helpful for evaluating disease progression and therapeutic outcome. In this 2-center study, HRV and SSR of 45 PD patients and 26 controls were recorded. HRV was measured during supine metronomic breathing and analyzed in time- and frequency-domains. SSR was evoked by repetitive auditory stimulation. Various ANS parameters were compared (1) between patients and healthy controls, (2) to clinical scales (Unified Parkinson's disease rating scale, Mini-Mental State Examination, Becks Depression Inventory), and (3) to disease duration. Root mean square of successive differences (RMSSD) and low frequency/high frequency (LF/HF) ratio differed significantly between PD and controls. Both, HRV and SSR parameters showed low or no association with clinical scores. Time-domain parameters tended to be affected already at early PD stages but did not consistently change with longer disease duration. In contrast, frequency-domain parameters were not altered in early PD phases but tended to be lower (LF, LF/HF ratio), respectively higher (HF) with increasing disease duration. This report confirms previous results of altered ANS parameters in PD. In addition, it suggests that (1) these ANS parameters are not relevantly associated with motor, behavioral, and cognitive changes in PD, (2) time-domain parameters are useful for the assessment of early PD, and (3) frequency-domain parameters are more closely associated with disease duration.

Both the frequency of HbA1c testing and the frequency of self-monitoring of blood glucose predict metabolic control: A multicentre analysis of 15 199 adult type 1 diabetes patients from Germany and Austria.

PubMed

Schwandt, A; Best, F; Biester, T; Grünerbel, A; Kopp, F; Krakow, D; Laimer, M; Wagner, C; Holl, R W

2017-10-01

The objective of this study was to examine the association between metabolic control and frequency of haemoglobin A 1c (HbA 1c ) measurements and of self-monitoring of blood glucose, as well as the interaction of both. Data of 15 199 adult type 1 diabetes patients registered in a standardized electronic health record (DPV) were included. To model the association between metabolic control and frequency of HbA 1c testing or of self-monitoring of blood glucose, multiple hierarchic regression models with adjustment for confounders were fitted. Tukey-Kramer test was used to adjust P values for multiple comparisons. Vuong test was used to compare non-nested models. The baseline variables of the study population were median age 19.9 [Q1; Q3: 18.4; 32.2] years and diabetes duration 10.4 [6.8; 15.7] years. Haemoglobin A 1c was 60.4 [51.5; 72.5] mmol/mol. Frequency of HbA 1c testing was 8.0 [5.0; 9.0] within 2 years, and daily self-monitoring of blood glucose frequency was 5.0 [4.0; 6.0]. After adjustment, a U-shaped association between metabolic control and frequency of HbA 1c testing was observed with lowest HbA 1c levels in the 3-monthly HbA 1c testing group. There was an inverse relationship between self-monitoring of blood glucose and HbA 1c with lower HbA 1c associated with highest frequency of testing (>6 daily measurements). Quarterly HbA 1c testing and frequent self-monitoring of blood glucose were associated with best metabolic control. The adjusted Vuong Z statistic suggests that metabolic control might be better explained by HbA 1c testing compared to self-monitoring of blood glucose (P < .0001). This research reveals the importance of quarterly clinical HbA 1c monitoring together with frequent self-monitoring of blood glucose in diabetes management to reach and maintain target HbA 1c . Copyright © 2017 John Wiley & Sons, Ltd.

PEG 3350 (Transipeg) versus lactulose in the treatment of childhood functional constipation: a double blind, randomised, controlled, multicentre trial

PubMed Central

Voskuijl, W; de Lorijn, F; Verwijs, W; Hogeman, P; Heijmans, J; Mäkel, W; Taminiau, J; Benninga, M

2004-01-01

Background: Recently, polyethylene glycol (PEG 3350) has been suggested as a good alternative laxative to lactulose as a treatment option in paediatric constipation. However, no large randomised controlled trials exist evaluating the efficacy of either laxative. Aims: To compare PEG 3350 (Transipeg: polyethylene glycol with electrolytes) with lactulose in paediatric constipation and evaluate clinical efficacy/side effects. Patients: One hundred patients (aged 6 months–15 years) with paediatric constipation were included in an eight week double blinded, randomised, controlled trial. Methods: After faecal disimpaction, patients <6 years of age received PEG 3350 (2.95 g/sachet) or lactulose (6 g/sachet) while children ⩾6 years started with 2 sachets/day. Primary outcome measures were: defecation and encopresis frequency/week and successful treatment after eight weeks. Success was defined as a defecation frequency ⩾3/week and encopresis ⩽1 every two weeks. Secondary outcome measures were side effects after eight weeks of treatment. Results: A total of 91 patients (49 male) completed the study. A significant increase in defecation frequency (PEG 3350: 3 pre v 7 post treatment/week; lactulose: 3 pre v 6 post/week) and a significant decrease in encopresis frequency (PEG 3350: 10 pre v 3 post/week; lactulose: 8 pre v 3 post/week) was found in both groups (NS). However, success was significantly higher in the PEG group (56%) compared with the lactulose group (29%). PEG 3350 patients reported less abdominal pain, straining, and pain at defecation than children using lactulose. However, bad taste was reported significantly more often in the PEG group. Conclusions: PEG 3350 (0.26 (0.11) g/kg), compared with lactulose (0.66 (0.32) g/kg), provided a higher success rate with fewer side effects. PEG 3350 should be the laxative of first choice in childhood constipation. PMID:15479678

Association of LOC387715 A69S with vitreous hemorrhage in polypoidal choroidal vasculopathy.

PubMed

Sakurada, Yoichi; Kubota, Takeo; Mabuchi, Fumihiko; Imasawa, Mitsuhiro; Tanabe, Naohiko; Iijima, Hiroyuki

2008-06-01

To investigate whether the LOC387715 polymorphism is associated with polypoidal choroidal vasculopathy (PCV) and with vitreous hemorrhage (VH), one of the most severe clinical phenotypes, in the Japanese population. Cross-sectional case-control association study. One hundred and nine Japanese patients with PCV, composed of nine patients associated with VH (VH group) and 100 patients without VH (non-VH group), and 85 control subjects were analyzed for the LOC387715 polymorphism (rs = 10490924), using denaturing high-performance chromatography. There was a significant difference in the T allele frequency between PCV patients and control subjects (P < .0001). In comparison with wild-type homozygosity (GG), homozygosity for the at-risk allele genotype (TT) increased the likelihood for PCV 8.4-fold (3.6 to 19.5, 95% confidence interval [CI]) and heterozygosity for the at-risk allele genotype (TG) increased the likelihood for PCV 4.0-fold (1.9 to 8.4, 95% CI). There was a significant difference in the genotypic frequency at the LOC387715 site between the VH and non-VH groups (P = .0099, Chi-square test) with the TT genotype occurring in 88.9% in the VH group and 37.0% in the non-VH group. The frequency of the T allele in the VH group was significantly greater than that in the non-VH group (0.944 vs 0.610; P = .0039, Fisher exact test). The LOC387715 polymorphism is associated with PCV and clinical severity in the subgroups of PCV in the Japanese population.

Seroprevalence of toxoplasma-specific antibodies in patients suspected to have active toxoplasmosis: A cross-sectional survey.

PubMed

Eskandarian, Abbas Ali; Jafarnezghad, Gholam-Abbas; Akbari, Mojtaba

2014-01-01

The aim of this study was to investigate the presence and distribution of anti-toxoplasma-specific IgM and IgG tantibodies in patients suspected to have toxoplasmosis and investigate for any association between IgM and IgG antibodies and some toxoplasmosis risk factors as well. In a comparative cross-sectional study, 70 patients suspected to had active toxoplasmosis and 30 control volunteers, who gave informed consent, entered the study. In each group, patient age, sex, signs of appearance, education level, residency status (urban / rural), occupation, frequency of toxoplasma-specific IgG and IgM antibodies, abortion history, and some risk factors (Direct cat exposure, Occupational exposure to raw meat, and Raw vegetable consumption) were recorded. The enzyme-linked immunosorbent assay (ELISA) kits (EUROIMMUN(®), United Kingdom) were used for the evaluation of anti-toxoplasma IgG and IgM antibodies according to the manufacturer's instructions. All analyses were done using SPSS-20. The frequency of toxoplasma-specific IgG and IgM antibodies like: Direct cat exposures, Occupational exposure to raw meat, and Raw vegetable consumption were not statistically significant between the two groups (P > 0.05). The history of previous abortions in women in the toxoplasmosis-suspected group was significantly higher than that in the controls (31.4% versus 6.7%; P = 0.009). The frequency of specific IgM and IgG antibodies in toxoplasmosis suspected in the toxoplasmosis and control groups was not statistically significant.

Exploring non-stationarity patterns in schizophrenia: neural reorganization abnormalities in the alpha band

NASA Astrophysics Data System (ADS)

Núñez, Pablo; Poza, Jesús; Bachiller, Alejandro; Gomez-Pilar, Javier; Lubeiro, Alba; Molina, Vicente; Hornero, Roberto

2017-08-01

Objective. The aim of this paper was to characterize brain non-stationarity during an auditory oddball task in schizophrenia (SCH). The level of non-stationarity was measured in the baseline and response windows of relevant tones in SCH patients and healthy controls. Approach. Event-related potentials were recorded from 28 SCH patients and 51 controls. Non-stationarity was estimated in the conventional electroencephalography frequency bands by means of Kullback-Leibler divergence (KLD). Relative power (RP) was also computed to assess a possible complementarity with KLD. Main results. Results showed a widespread statistically significant increase in the level of non-stationarity from baseline to response in all frequency bands for both groups. Statistically significant differences in non-stationarity were found between SCH patients and controls in beta-2 and in the alpha band. SCH patients showed more non-stationarity in the left parieto-occipital region during the baseline window in the beta-2 band. A leave-one-out cross validation classification study with feature selection based on binary stepwise logistic regression to discriminate between SCH patients and controls provided a positive predictive value of 72.73% and negative predictive value of 78.95%. Significance. KLD can characterize transient neural reorganization during an attentional task in response to novelty and relevance. Our findings suggest anomalous reorganization of neural dynamics in SCH during an oddball task. The abnormal frequency-dependent modulation found in SCH patients during relevant tones is in agreement with the hypothesis of aberrant salience detection in SCH. The increase in non-stationarity in the alpha band during the active task supports the notion that this band is involved in top-down processing. The baseline differences in the beta-2 band suggest that hyperactivation of the default mode network during attention tasks may be related to SCH symptoms. Furthermore, the classification improved when features from both KLD and RP were used, supporting the idea that these measures can be complementary.

Network analysis of functional brain connectivity in borderline personality disorder using resting-state fMRI

PubMed Central

Xu, Tingting; Cullen, Kathryn R.; Mueller, Bryon; Schreiner, Mindy W.; Lim, Kelvin O.; Schulz, S. Charles; Parhi, Keshab K.

2016-01-01

Borderline personality disorder (BPD) is associated with symptoms such as affect dysregulation, impaired sense of self, and self-harm behaviors. Neuroimaging research on BPD has revealed structural and functional abnormalities in specific brain regions and connections. However, little is known about the topological organizations of brain networks in BPD. We collected resting-state functional magnetic resonance imaging (fMRI) data from 20 patients with BPD and 10 healthy controls, and constructed frequency-specific functional brain networks by correlating wavelet-filtered fMRI signals from 82 cortical and subcortical regions. We employed graph-theory based complex network analysis to investigate the topological properties of the brain networks, and employed network-based statistic to identify functional dysconnections in patients. In the 0.03–0.06 Hz frequency band, compared to controls, patients with BPD showed significantly larger measures of global network topology, including the size of largest connected graph component, clustering coefficient, small-worldness, and local efficiency, indicating increased local cliquishness of the functional brain network. Compared to controls, patients showed lower nodal centrality at several hub nodes but greater centrality at several non-hub nodes in the network. Furthermore, an interconnected subnetwork in 0.03–0.06 Hz frequency band was identified that showed significantly lower connectivity in patients. The links in the subnetwork were mainly long-distance connections between regions located at different lobes; and the mean connectivity of this subnetwork was negatively correlated with the increased global topology measures. Lastly, the key network measures showed high correlations with several clinical symptom scores, and classified BPD patients against healthy controls with high accuracy based on linear discriminant analysis. The abnormal topological properties and connectivity found in this study may add new knowledge to the current understanding of functional brain networks in BPD. However, due to limitation of small sample sizes, the results of the current study should be viewed as exploratory and need to be validated on large samples in future works. PMID:26977400

Network analysis of functional brain connectivity in borderline personality disorder using resting-state fMRI.

PubMed

Xu, Tingting; Cullen, Kathryn R; Mueller, Bryon; Schreiner, Mindy W; Lim, Kelvin O; Schulz, S Charles; Parhi, Keshab K

2016-01-01

Borderline personality disorder (BPD) is associated with symptoms such as affect dysregulation, impaired sense of self, and self-harm behaviors. Neuroimaging research on BPD has revealed structural and functional abnormalities in specific brain regions and connections. However, little is known about the topological organizations of brain networks in BPD. We collected resting-state functional magnetic resonance imaging (fMRI) data from 20 patients with BPD and 10 healthy controls, and constructed frequency-specific functional brain networks by correlating wavelet-filtered fMRI signals from 82 cortical and subcortical regions. We employed graph-theory based complex network analysis to investigate the topological properties of the brain networks, and employed network-based statistic to identify functional dysconnections in patients. In the 0.03-0.06 Hz frequency band, compared to controls, patients with BPD showed significantly larger measures of global network topology, including the size of largest connected graph component, clustering coefficient, small-worldness, and local efficiency, indicating increased local cliquishness of the functional brain network. Compared to controls, patients showed lower nodal centrality at several hub nodes but greater centrality at several non-hub nodes in the network. Furthermore, an interconnected subnetwork in 0.03-0.06 Hz frequency band was identified that showed significantly lower connectivity in patients. The links in the subnetwork were mainly long-distance connections between regions located at different lobes; and the mean connectivity of this subnetwork was negatively correlated with the increased global topology measures. Lastly, the key network measures showed high correlations with several clinical symptom scores, and classified BPD patients against healthy controls with high accuracy based on linear discriminant analysis. The abnormal topological properties and connectivity found in this study may add new knowledge to the current understanding of functional brain networks in BPD. However, due to limitation of small sample sizes, the results of the current study should be viewed as exploratory and need to be validated on large samples in future works.

Tumour necrosis factor (TNF)-α-308 gene polymorphism in Indian patients with Takayasu's arteritis - a pilot study.

PubMed

Sandhya, P; Danda, Sumita; Danda, Debashish; Lonarkar, Shraddha; Luke, Shana S; Sinha, Shanta; Joseph, George

2013-04-01

Tumour necrosis factor-alpha (TNF-α)- 308 promoter gene polymorphism has been shown to be associated with several autoimmune disorders and infections such as tuberculosis. There is no study on TNF-α gene polymorphism in Takayasu's arteritis (TA) till date. We aimed to study this polymorphism in TA, a granulomatous vasculitis, probably triggered by Mycobacterium tuberculosis. TNF-α - 308 gene polymorphism was studied in 34 patients with TA and 39 healthy controls recruited from Christian Medical College, India. PCR was done followed by enzyme digestion. G and A polymorphisms were analysed. Occurrence of alleles in the disease group was compared with controls as well as with historical controls. GG allele was most frequent in TA and in controls. GA allele was detected in four controls but only in one patient who was the oldest in the study group. AA polymorphism was detected in one control but not in TA. When compared with controls from other populations, it was found that our allelic frequency was similar to that in Japan as well as from USA with mixed population. However, predominantly Caucasian population studied from Netherlands, Germany and England, where TA is rare, had a higher frequency of A allele as compared to our controls. Our preliminary results indicated that G allele at TNF-α - 308 was more common in TA patients and controls similar to that in other Indian as well as Japanese population. Compared to the western population, A allele was relatively less common in our study subjects.

DD genotype of ace gene I/D polymorphism is associated in a Turkish study population with osteoarthritis.

PubMed

Bayram, Banu; Sayın, Emrah; Güneş, Hasan Veysi; Değirmenci, Irfan; Türkoğlu, Züleyha; Doganer, Fulya; Coşan, Didem Turgut

2011-03-01

This study was conducted in Turkish osteoarthritis patients to determine the frequency of I/D polymorphism genotypes of angiotensin converting enzyme gene, and to examine the role of this polymorphism in osteoarthritis development. Genomic DNA obtained from 200 persons (135 patients with osteoarthritis and 65 healthy controls) was used in the study. DNA was multiplied by polymerase chain reaction using I and D allele-specific primers. Polymerase chain reaction products were assessed with CCD camera by being exposed to 2% agarose gel electrophoresis. There was statistically significant difference between the groups with respect to genotype distribution (P < 0.001). The D allele frequency was indicated as 69% and I allele was as 31% in the patients, whereas it was 55-45% in the control group. Consequently, in this study, we may assert that ACE gene I/D polymorphism DD genotype determination is significant criteria for identifying patients who are likely to develop osteoarthritis in east population of Turkey.

The insulin-sensitivity sulphonylurea receptor variant is associated with thyrotoxic paralysis.

PubMed

Rolim, Ana Luiza R; Lindsey, Susan C; Kunii, Ilda S; Crispim, Felipe; Moisés, Regina Célia M S; Maciel, Rui M B; Dias-da-Silva, Magnus R

2014-10-01

Thyrotoxicosis is the most common cause of the acquired flaccid muscle paralysis in adults called thyrotoxic periodic paralysis (TPP) and is characterised by transient hypokalaemia and hypophosphataemia under high thyroid hormone levels that is frequently precipitated by carbohydrate load. The sulphonylurea receptor 1 (SUR1 (ABCC8)) is an essential regulatory subunit of the β-cell ATP-sensitive K(+) channel that controls insulin secretion after feeding. Additionally, the SUR1 Ala1369Ser variant appears to be associated with insulin sensitivity. We examined the ABCC8 gene at the single nucleotide level using PCR-restriction fragment length polymorphism (RFLP) analysis to determine its allelic variant frequency and calculated the frequency of the Ala1369Ser C-allele variant in a cohort of 36 Brazilian TPP patients in comparison with 32 controls presenting with thyrotoxicosis without paralysis (TWP). We verified that the frequency of the alanine 1369 C-allele was significantly higher in TPP patients than in TWP patients (61.1 vs 34.4%, odds ratio (OR)=3.42, P=0.039) and was significantly more common than the minor allele frequency observed in the general population from the 1000 Genomes database (61.1 vs 29.0%, OR=4.87, P<0.005). Additionally, the C-allele frequency was similar between TWP patients and the general population (34.4 vs 29%, OR=1.42, P=0.325). We have demonstrated that SUR1 alanine 1369 variant is associated with allelic susceptibility to TPP. We suggest that the hyperinsulinaemia that is observed in TPP may be linked to the ATP-sensitive K(+)/SUR1 alanine variant and, therefore, contribute to the major feedforward precipitating factors in the pathophysiology of TPP. © 2014 Society for Endocrinology.

Pediatric cleft palate patients show a 3- to 5-fold increase in cumulative radiation exposure from dental radiology compared with an age- and gender-matched population: a retrospective cohort study.

PubMed

Jacobs, Reinhilde; Pauwels, Ruben; Scarfe, William C; De Cock, Carl; Dula, Karl; Willems, Guy; Verdonck, An; Politis, Constantinus

2018-05-01

The objective of the study was to compare estimates of pediatric cumulative exposure and lifetime attributable risk (LAR) of radiation-induced cancer from dental radiology between cleft palate (CP) subjects and age- and gender-matched controls (non-CP), with and without orthodontic treatment. The radiation exposure frequency of CP subjects and non-CP controls with and without orthodontic treatment was compared for two-dimensional radiography (intra-oral, panoramic and cephalometric radiography), computed tomography (CT), and cone-beam CT (CBCT) using cumulative radiation dose as an estimate. From this dose estimate, the age- and gender-dependent risk for radiation-induced stochastic effects was calculated for each patient group. CP patients received more radiographic examinations than non-CP controls, with the exception of intra-oral radiographs. The cumulative dose to CP patients was considerably higher (1963 μSv at the age of 20 years) than non-CP patients with (597 μSv) and without (383 μSv) orthodontic treatment, primarily due to the higher frequency of CT scanning. Accordingly, CP patients had a three to five times higher LAR than non-CP patients. This study suggests a significantly higher lifetime radiation exposure to CP patients than non-CP controls from dental radiographic procedures. Diagnostic benefits from the use of CT and CBCT in children must be justified and appropriate dose optimization strategies implemented. The present study indicates the need for proper justification and optimization of pediatric exposures in dentistry, with a special focus on high-risk groups.

Nasal symptoms and clinical findings in adult patients treated for unilateral cleft lip and palate.

PubMed

Morén, Staffan; Mani, Maria; Lundberg, Kristina; Holmström, Mats

2013-10-01

The aim of the study was to investigate self-experienced nasal symptoms among adults treated for UCLP and the association to clinical findings, and to evaluate whether palate closure in one-stage or two-stages affected the symptoms or clinical findings. All people with UCLP born between 1960-1987, treated at Uppsala University Hospital, were considered for participation in this cross-sectional population study with long-term follow-up. Eighty-three patients (76% participation rate) participated, a mean of 37 years after the first operation. Fifty-two patients were treated with one-stage palate closure and 31 with two-stage palate closure. An age-matched group of 67 non-cleft controls completed the same study protocol, which included a questionnaire regarding nasal symptoms, nasal inspection, anterior rhinoscopy, and nasal endoscopy. Patients reported a higher frequency of nasal symptoms compared with the control group, e.g., nasal obstruction (81% compared with 60%) and mouth breathing (20% compared with 5%). Patients also rated their nasal symptoms as having a more negative impact on their daily life and physical activities than controls. Nasal examination revealed higher frequencies of nasal deformities among patients. No positive correlation was found between nasal symptoms and severity of findings at nasal examination. No differences were identified between patients treated with one-stage and two-stage palate closure regarding symptoms or nasal findings. Adult patients treated for UCLP suffer from more nasal symptoms than controls. However, symptoms are not associated with findings at clinical nasal examination or method of palate closure.

The effect of a calcium phosphate mouth rinse on (chemo) radiation induced oral mucositis in head and neck cancer patients: a prospective study.

PubMed

Stokman, M A; Burlage, F R; Spijkervet, F K L

2012-08-01

Promising results of a calcium phosphate (CP) mouth rinse on reduced severity of oral mucositis have been reported. The aim of this study was to determine the effect of a CP mouth rinse on the frequency, duration and severity of (chemo) radiation induced oral mucositis in patients with head-neck cancer. patients with oral malignancies, treated with (chemo) radiotherapy, were included. Patients rinsed four times a day with a CP mouth rinse. Patients not willing to rinse with the CP mouth rinse served as control. Mucositis was scored according to the WHO score at baseline and twice a week during the full course of (chemo) radiotherapy. Patient's self-reported mouth-throat soreness (MTS) was evaluated at the same time interval using a diary in the CP mouth rinse group. The outcomes on MTS were compared with a historical control group. Fifty-two patients were analysed: 25 CP mouth rinse group, 11 control group and 16 historical group. There was no significant difference between the CP group and control group on development and severity of oral mucositis. No significant difference was found for subjective outcomes on MTS between the CP group and the historical group. The CP mouth rinse seems to have no influence on the frequency, duration and severity of oral mucositis during (chemo) radiation in patients with head and neck cancer. A trend to develop less MTS for drinking and eating was found when applying the CP mouth rinse. © 2012 John Wiley & Sons A/S.

Alcohol, smoking and illicit drug use in pediatric systemic lupus erythematosus patients.

PubMed

van Weelden, Marlon; Queiroz, Lígia B; Lourenço, Daniela M R; Kozu, Katia; Lourenço, Benito; Silva, Clovis A

2016-01-01

To evaluate alcohol, smoking and/or illicit drug use, and history of bullying in adolescent childhood-onset systemic lupus erythematosus and healthy controls. 174 adolescents with pediatric rheumatic diseases were selected. All of the 34 childhood-onset systemic lupus erythematosus patients and 35 healthy controls participated in this study. A cross-sectional study included demographic/anthropometric data and puberty markers assessments; structured questionnaire and CRAFFT screening interview. McNemar tests indicated an excellent test-retest reliability of the structured questionnaire (p=1.0). The median current age was similar between childhood-onset systemic lupus erythematosus patients and controls [15 (12-18) vs. 15 (12-18) years, p=0.563]. The median of menarche age was significantly higher in childhood-onset systemic lupus erythematosus patients compared to controls [12 (10-15) vs. 11.5 (9-15) years, p=0.041], particularly in those that lupus had occurred before first menstruation [13 (12-15) vs. 11.5(9-15) years, p=0.007]. The other puberty marker and sexual function parameters were similar in both groups (p>0.05). Alcohol use was similar in both childhood-onset systemic lupus erythematosus patients and controls (38% vs. 46%, p=0.628). A trend of lower frequency of CRAFFT score ≥2 (high risk for substance abuse/dependence) was evidenced in childhood-onset systemic lupus erythematosus patients compared to controls (0% vs. 15%, p=0.053). Bullying was reported similarly for the two groups (43% vs. 44%, p=0.950). Further analysis in lupus patients regarding alcohol/smoking/illicit drug use showed no differences in demographic data, puberty markers, history of bullying, sexual function, contraceptive use, disease activity/damage scores, clinical/laboratorial features and treatments (p>0.05). This study showed high frequencies of early alcohol use in lupus adolescents and healthy controls, despite of a possible low risk for substance abuse/dependence in childhood-onset systemic lupus erythematosus patients. Copyright © 2016 Elsevier Editora Ltda. All rights reserved.

Application of Optical Coherence Tomography and Contrast Sensitivity Test for Observing Fundus Changes of Patients With Pregnancy-Induced Hypertension Syndrome.

PubMed

Wang, Zhixue; Zou, Yuanyuan; Li, Wenying; Wang, Xueyan; Zhang, Min; Wang, Wenying

2015-11-01

This study was aimed to investigate the fundus changes of patients with pregnancy-induced hypertension syndrome (PIHS) using optical coherence tomography (OCT) technology and contrast sensitivity (CS) tests.Ninety-eight patients with PIHS underwent routine eye examinations including vision correction, fundus examination, OCT, and CS tests. The CS test was performed at low, medium, and high frequency, respectively. Moreover, the difference in CS tests between 2 groups was analyzed by independent-samples T test. The Kruskal-Wallis rank sum test and linear regression model were used to detect the correlation of OCT with CS, respectively. Meanwhile Satterthwaite approximate T test was adopted for pairwise comparisons after nonparametric analysis of variance.The OCT test revealed that 56.76% of the examined eyes showed shallow retinal detachment in the macula lutea and around the optic disk. The differences in CS at each spatial frequency between the case and control group were statistically significant (P < 0.01). Besides, OCT manifestations were associated with CS at each spacial frequency including 1.5, 3, 6, 12, and 18 frequency (P < 0.01). And patients with abnormal manifestations of OCT showed lower CS at each spacial frequency than those without abnormal OCT manifestations. What's more the OCT manifestation 1 showed the greatest impact on CS at each spacial frequency.The results showed that abnormal OCT manifestations were correlated with CS in PIHS. OCT and CS tests might be valuable methods in observing fundus changes for PIHS patients.

Nutritional status, food intake and cardiovascular disease risk in individuals with schizophrenia in southern Brazil: a case-control study.

PubMed

Nunes, Daniela; Eskinazi, Bianca; Camboim Rockett, Fernanda; Delgado, Vera Beatriz; Schweigert Perry, Ingrid Dalira

2014-01-01

To verify food consumption patterns and presence of risk anthropometric parameters in schizophrenic patients, trying to assess some modifiable cardiovascular risk. Twenty-five schizophrenic outpatients, attended at the Hospital de Clínicas de Porto Alegre, Brazil, and 25 healthy controls matched by sex, age and body mass index (BMI) were included. Demographic (age, sex and socioeconomic status), anthropometric (weight, height and waist circumference), clinical (antipsychotics) and dietary consumption data (food frequency questionnaire) were obtained. There was a 40% frequency of overweight and 40% of obesity as verified by BMI, and 80% of increased risk of metabolic complications as measured by waist circumference. Most of the patients (68%) used atypical antipsychotics and no association was found between the distribution of the nutritional status according to BMI and type of antipsychotic used. There was a higher intake of total calories, calories and protein per kilogram of body weight, percentage of carbohydrates, and lower intake of omega-6, phytosterols, vitamin A and α-tocopherol by cases. Cholesterol and sodium intake did not differ between groups (365 ± 152 mg of cholesterol in cases and 313 ± 146 mg in controls; (3499 ± 1695 mg sodium by cases and 2874 ± 800 by controls). In this sample of schizophrenic patients there was a higher intake of calories and lower consumption of α-tocoferol and phitosterols, compared to controls. There was also elevated sodium, and cholesterol intake, and high frequency of overweight and central obesity. Copyright © 2013 SEP y SEPB. Published by Elsevier España. All rights reserved.

Nocturnal heart rate variability is lower in temporomandibular disorder patients than in healthy, pain-free individuals.

PubMed

Eze-Nliam, Chete M; Quartana, Phillip J; Quain, Angela M; Smith, Michael T

2011-01-01

To determine whether patients with a painful myofascial temporomandibular disorder (TMD) have diminished nocturnal heart rate variability (HRV), a marker of autonomic nervous system (ANS) dysfunction, relative to healthy, pain-free controls. Participants with myofascial TMD and healthy, pain-free volunteers underwent nocturnal polysomnography studies during which HRV indices were measured. Multiple linear regression analyses were used to determine whether TMD status exerted unique effects on HRV. Ninety-five participants (n = 37 TMD; n = 58 controls) were included in the analyses. The TMD group had a lower standard deviation of R-R intervals (89.81 ± 23.54 ms versus 107.93 ± 34.42 ms, P ⋜ .01), a lower root mean squared successive difference (RMSSD) of R-R intervals (54.78 ± 27.37 ms versus 81.88 ± 46.43 ms, P < .01), and a lower high frequency spectral power (2336.89 ± 1224.64 ms² versus 2861.78 ± 1319 ms², P = .05) than the control group. The ratio of the low-frequency (LF) to the high-frequency (HF) spectral power was higher in the TMD group (2.47 ± 2 versus 1.38 ± 0.65, P < .01). The differences in RMSSD (91.21 ms versus 112.03 ms, P = .05) and LF:HF ratio (0.71 versus 0.32, P < .01) remained significant after controlling for age and psychological distress. Myofascial TMD patients revealed lower nocturnal HRV than healthy, pain-free controls. Further research should focus on processes that address this ANS imbalance, which may potentially lead to effective therapeutic interventions.

Alteration of frequency range for binaural beats in acute low-tone hearing loss.

PubMed

Karino, Shotaro; Yamasoba, Tatsuya; Ito, Ken; Kaga, Kimitaka

2005-01-01

The effect of acute low-tone sensorineural hearing loss (ALHL) on the interaural frequency difference (IFD) required for perception of binaural beats (BBs) was investigated in 12 patients with unilateral ALHL and 7 patients in whom ALHL had lessened. A continuous pure tone of 30 dB sensation level at 250 Hz was presented to the contralateral, normal-hearing ear. The presence of BBs was determined by a subjective yes-no procedure as the frequency of a loudness-balanced test tone was gradually adjusted around 250 Hz in the affected ear. The frequency range in which no BBs were perceived (FRNB) was significantly wider in the patients with ALHL than in the controls, and FRNBs became narrower in the recovered ALHL group. Specifically, detection of slow BBs with a small IFD was impaired in this limited (10 s) observation period. The significant correlation between the hearing level at 250 Hz and FRNBs suggests that FRNBs represent the degree of cochlear damage caused by ALHL.

Compensatory Postural Adjustments in an Oculus Virtual Reality Environment and the Risk of Falling in Alzheimer's Disease.

PubMed

Gago, Miguel F; Yelshyna, Darya; Bicho, Estela; Silva, Hélder David; Rocha, Luís; Lurdes Rodrigues, Maria; Sousa, Nuno

2016-01-01

Alzheimer's disease (AD) patients have an impaired ability to quickly reweight central sensory dependence in response to unexpected body perturbations. Herein, we aim to study provoked compensatory postural adjustments (CPAs) in a conflicting sensory paradigm with unpredictable visual displacements using virtual reality goggles. We used kinematic time-frequency analyses of two frequency bands: a low-frequency band (LB; 0.3-1.5 Hz; mechanical strategy) and a high-frequency band (HB; 1.5-3.5 Hz; cognitive strategy). We enrolled 19 healthy subjects (controls) and 21 AD patients, divided according to their previous history of falls. The AD faller group presented higher-power LB CPAs, reflecting their worse inherent postural stability. The AD patients had a time lag in their HB CPA reaction. The slower reaction by CPA in AD may be a reflection of different cognitive resources including body schema self-perception, visual motion, depth perception, or a different state of fear and/or anxiety.

Compensatory Postural Adjustments in an Oculus Virtual Reality Environment and the Risk of Falling in Alzheimer's Disease

PubMed Central

Gago, Miguel F.; Yelshyna, Darya; Bicho, Estela; Silva, Hélder David; Rocha, Luís; Lurdes Rodrigues, Maria; Sousa, Nuno

2016-01-01

Background/Aims Alzheimer's disease (AD) patients have an impaired ability to quickly reweight central sensory dependence in response to unexpected body perturbations. Herein, we aim to study provoked compensatory postural adjustments (CPAs) in a conflicting sensory paradigm with unpredictable visual displacements using virtual reality goggles. Methods We used kinematic time-frequency analyses of two frequency bands: a low-frequency band (LB; 0.3-1.5 Hz; mechanical strategy) and a high-frequency band (HB; 1.5-3.5 Hz; cognitive strategy). We enrolled 19 healthy subjects (controls) and 21 AD patients, divided according to their previous history of falls. Results The AD faller group presented higher-power LB CPAs, reflecting their worse inherent postural stability. The AD patients had a time lag in their HB CPA reaction. Conclusion The slower reaction by CPA in AD may be a reflection of different cognitive resources including body schema self-perception, visual motion, depth perception, or a different state of fear and/or anxiety. PMID:27489559

Polysomnographic findings in a cohort of chronic insomnia patients with benzodiazepine abuse.

PubMed

Mazza, Marianna; Losurdo, Anna; Testani, Elisa; Marano, Giuseppe; Di Nicola, Marco; Dittoni, Serena; Gnoni, Valentina; Di Blasi, Chiara; Giannantoni, Nadia Mariagrazia; Lapenta, Leonardo; Brunetti, Valerio; Bria, Pietro; Janiri, Luigi; Mazza, Salvatore; Della Marca, Giacomo

2014-01-15

To evaluate sleep modifications induced by chronic benzodiazepine (BDZ) abuse. Cohort study, comparison of sleep measures between BDZs abusers and controls. Drug Addiction Unit (Institute of Psychiatry) and Unit of Sleep Disorders (Institute of Neurology) of the Catholic University in Rome. Six outpatients affected by chronic BDZ abuse were enrolled, (4 men, 2 women, mean age 53.3 ± 14.8, range: 34-70 years); 55 healthy controls were also enrolled (23 men, 32 women, mean age 54.2 ± 13.0, range: 27-76 years). All patients underwent clinical evaluation, psychometric measures, ambulatory polysomnography, scoring of sleep macrostructure and microstructure (power spectral fast-frequency EEG arousal, cyclic alternating pattern [CAP]), and heart rate variability. BDZ abusers had relevant modification of sleep macrostructure and a marked reduction of fast-frequency EEG arousal in NREM (patients: 6.6 ± 3.7 events/h, controls 13.7 ± 4.9 events/h, U-test: 294, p = 0.002) and REM (patients: 8.4 ± 2.4 events/h, controls 13.3 ± 5.1 events/h, U-test: 264, p = 0.016), and of CAP rate (patients: 15.0 ± 8.6%, controls: 51.2% ± 12.1%, U-test: 325, p < 0.001). BDZ abusers have reduction of arousals associated with increased number of nocturnal awakenings and severe impairment of sleep architecture. The effect of chronic BDZ abuse on sleep may be described as a severe impairment of arousal dynamics; the result is the inability to modulate levels of vigilance.

Frequency and genotype of human parvovirus B19 among Iranian patients infected with HIV.

PubMed

Azadmanesh, Kayhan; Mohraz, Minoo; Kazemimanesh, Monireh; Aghakhani, Arezoo; Foroughi, Maryam; Banifazl, Mohammad; Eslamifar, Ali; Ramezani, Amitis

2015-07-01

The human parvovirus B19 (B19) usually causes a subclinical infection in immunocompetent individuals. Whereas immunocompromised individuals such as patients infected with HIV are at risk of persistent anemia due to B19 infection. Only few studies have been carried out on distribution and molecular epidemiology of B19 in Iran. We aimed to determine the frequency and genotype of B19 among Iranian patients infected with HIV. We conducted a survey on 99 HIV patients and 64 healthy controls. IgG and IgM antibodies against B19 were detected by ELISA and B19 DNA was assessed by nested PCR. PCR products were subjected to direct sequencing and classified after phylogenetic analysis. The prevalence of B19 immunoglobulin was 11.1% for IgG and 1% for IgM. B19 DNA was detected in 13.1% of cases. The prevalence of B19 IgG, IgM, and DNA in control group was 25%, 1.6%, and 9.4%, respectively. B19 IgG was significantly lower in HIV group than in normal controls. There was no significant difference regarding anemia between cases and controls. All sequenced B19 isolates belonged to genotype 1A with low genetic diversity. Our findings indicated that in the HAART era, the importance of B19 infections in HIV patients may be limited whereas persistent B19 viremia in the circulation of healthy controls raises a potential concern in blood donations. © 2015 Wiley Periodicals, Inc.

Circulating CD14+ HLA-DR-/low myeloid-derived suppressor cells predicted early recurrence of hepatocellular carcinoma after surgery.

PubMed

Gao, Xing-Hui; Tian, Lu; Wu, Jiong; Ma, Xiao-Lu; Zhang, Chun-Yan; Zhou, Yan; Sun, Yun-Fan; Hu, Bo; Qiu, Shuang-Jian; Zhou, Jian; Fan, Jia; Guo, Wei; Yang, Xin-Rong

2017-09-01

Myeloid-derived suppressor cells (MDSCs) play an important role in tumor progression. The aim of the present study was to investigate the prognostic value of MDSCs for early recurrence of hepatocellular carcinoma (HCC) in patients undergoing curative resection. Myeloid-derived suppressor cells were measured by flow cytometry. The correlation between MDSCs and tumor recurrence was analyzed using a cohort of 183 patients who underwent curative resection between February 2014 and July 2015. Prognostic significance was further assessed using Kaplan-Meier survival estimates and log-rank tests. In vivo, CD14 + HLA-DR -/low MDSCs inhibit T cell proliferation and secretion. The frequency of CD14 + HLA-DR -/low MDSCs was significantly higher in HCC patients (3.7 ± 5.3%, n = 183) than in chronic hepatitis patients (1.4 ± 0.6%, n = 25) and healthy controls (1.1 ± 0.5%, n = 50). High frequency of MDSCs was significantly correlated with recurrence (time to recurrence) (P < 0.001) and overall survival (P = 0.034). Patients with HCC in the high MDSC group were prone to more vascular invasion (P = 0.018) and high systemic immune-inflammation index (SII) (P = 0.009) than those in the low MDSC group. Scatter-plot analyses revealed a significant positive correlation between the SII level and the frequency of MDSCs (r = 0.188, P = 0.011). Patients with HCC with a high MDSC frequency and high SII level had significantly shorter time to recurrence (P < 0.001) and overall survival (P = 0.028) than those with a low MDSC frequency and low SII. An increased frequency of MDSCs was correlated with early recurrence and predicted the prognosis of patients with HCC undergoing curative resection. The HCC patients with high frequency of MDSCs should be provided more advanced management and frequent monitoring. © 2016 The Japan Society of Hepatology.

Polymorphisms of glutathione S-transferase Mu 1, glutathione S-transferase theta 1 and glutathione S-transferase Pi 1 genes in Hodgkin's lymphoma susceptibility and progression.

PubMed

Lourenço, Gustavo J; Néri, Iramaia A; Sforni, Vitor C S; Kameo, Rodolfo; Lorand-Metze, Irene; Lima, Carmen S P

2009-06-01

We tested in this study whether the polymorphisms of the glutathione S-transferase Mu1 (GSTM1), glutathione S-transferase Theta 1 (GSTT1) and glutathione S-transferase Pi 1 (GSTP1), involved in metabolism of chemical agents, cell proliferation and cell survival, alter the risk for Hodgkin lymphoma (HL). Genomic DNA from 110 consecutive patients with HL and 226 controls was analysed by polymerase chain reaction and restriction digestion for the polymorphism analyses. Similar frequencies of the GSTM1 and GSTT1 genotypes were seen in patients and controls. In contrast, the frequency of the GSTP1 wild genotype (59.1%versus 36.3%, P = 0.004) was higher in patients than in controls. Individuals with the wild genotype had a 2.68 (95%CI: 1.38-5.21)-fold increased risk for the disease than others. An excess of the GSTP1 wild genotype was also observed in patients with tumors of stages III + IV when compared with those with tumors of stages I + II (39.1%versus 20.0%, P = 0.03). These results suggest that the wild allele of the GSTP1 gene is linked to an increased risk and high aggressiveness of the HL in our cases but they should be confirmed by further studies with larger cohorts of patients and controls.

Prevalence of Candida spp., xerostomia, and hyposalivation in oral lichen planus--a controlled study.

PubMed

Artico, G; Freitas, R S; Santos Filho, A M; Benard, G; Romiti, R; Migliari, D A

2014-04-01

To determine the frequency of Candida spp., xerostomia, and salivary flow rate (SFR) in three different groups: patients with OLP (OLP group), patients with oral mucosal lesions other than OLP (non-OLP group), and subjects without oral mucosal lesions (control group). Xerostomia as well as SFR was investigated in the three groups. Samples for isolation of Candida spp. were collected from OLP lesions (38 patients), non-OLP lesions (28 patients), and healthy subjects (32 subjects). There was no statistically significant difference regarding the frequency of xerostomia and hyposalivation among the three groups (P > 0.05). A higher prevalence for colonization by Candida spp. was found in the healthy subject as compared to that of patients with OLP (P = 0.03) and non-OLP (P = 0.02) groups. Low SFR was not a factor for colonization by Candida spp. Xerostomia and hyposalivation occur with similar frequency in subjects with and without oral lesions; also, the presence of oral lesions does not increase the susceptibility to colonization by Candida spp. It seems that any study implicating Candida spp. in the malignant transformation of oral lesions should be carried out mostly on a biochemical basis, that is, by testing the capability of Candida spp. to produce carcinogenic enzyme. © 2013 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

[Superficial mycoses: comparative study between type 2 diabetic patients and a non-diabetic control group].

PubMed

García-Humbría, Leila; Richard-Yegres, Nicole; Pérez-Blanco, Maigualida; Yegres, Francisco; Mendoza, Mireya; Acosta, Arnaldo; Hernández, Rosaura; Zárraga, Eluz

2005-03-01

Superficial mycoses are considered to affect more frequently patients with type 2 diabetes mellitus (DM-2), specially onychomycosis and Tinea pedis. The purpose of this study was to compare the dermatophytoses, candidiasis and Pitiriasis versicolor frequency between 40 patients with DM-2 and 40 healthy persons of either sex, 40 years old or more. Clinical, metabolic, mycologic and inmunologic studies against Candida albicans, were carried out. Both diabetics 75% (30/40) and controls 65% (26/40) presented a high frequency of superficial mycoses (no significant difference p = 0.329). Pitiriasis versicolor was not detected in diabetic patients. They presented Tinea unguium, concomitant with Tinea pedis, with a higher frequency. The predominant dermatophyte was Trichophyton rubrum 18/23 (78%) in diabetics and 8/16 (50%) in non diabetics. Candida was isolated as commensal from oral mucous: 23/40 (58%) in diabetics and 21/40 (52%) in non diabetics (serotipo A was the more frequent), and from onychomycosis: 11/40 (28%) in diabetics and 12/40 (30%) in non diabetics. The immunological response was the same in both groups: celular 100%, humoral 20%. No statistical correlation among superficial mycoses, blood glucose level, glycosylated hemoglobin values or the time suffering the disease was observed. The high susceptibility to dermatophytes and Candida sp. infection showed to be associated with age and no with the diabetic type 2 condition in those patients.

Circulating dendritic cells of multiple sclerosis patients are proinflammatory and their frequency is correlated with MS-associated genetic risk factors.

PubMed

Thewissen, Kristof; Nuyts, Amber H; Deckx, Nathalie; Van Wijmeersch, Bart; Nagels, Guy; D'hooghe, Marie; Willekens, Barbara; Cras, Patrick; Eijnde, Bert O; Goossens, Herman; Van Tendeloo, Viggo F I; Stinissen, Piet; Berneman, Zwi N; Hellings, Niels; Cools, Nathalie

2014-04-01

The role of the adaptive immune system and more specifically T cells in the pathogenesis of multiple sclerosis (MS) has been studied extensively. Emerging evidence suggests that dendritic cells (DCs), which are innate immune cells, also contribute to MS. This study aimed to characterize circulating DC populations in MS and to investigate the contribution of MS-associated genetic risk factors to DCs. Ex vivo analysis of conventional (cDCs) and plasmacytoid DCs (pDCs) was carried out on peripheral blood of MS patients (n = 110) and age- and gender-matched healthy controls (n = 112). Circulating pDCs were significantly decreased in patients with chronic progressive MS compared to relapsing-remitting MS and healthy controls. While no differences in cDCs frequency were found between the different study groups, HLA-DRB1*1501(+) MS patients and patients not carrying the protective IL-7Rα haplotype 2 have reduced frequencies of circulating cDCs and pDCs, respectively. MS-derived DCs showed enhanced IL-12p70 production upon TLR ligation and had an increased expression of the migratory molecules CCR5 and CCR7 as well as an enhanced in vitro chemotaxis. DCs in MS are in a pro-inflammatory state, have a migratory phenotype and are affected by genetic risk factors, thereby contributing to pathogenic responses.

Eye movements during the Rorschach test in schizophrenia.

PubMed

Hori, Yasuko; Fukuzako, Hiroshi; Sugimoto, Yoko; Takigawa, Morikuni

2002-08-01

In order to understand relationships between scanning behaviors, characteristics of visual stimuli and the clinical symptoms in schizophrenia, eye movements of 37 schizophrenic patients and 36 controls were recorded using an eye-mark recorder during a free-response period in a Rorschach test. Four cards (I, II, V and VIII) were used. Data were analyzed during 15 s from the presentation of each card. For all cards, the number of eye fixations and the number of eye fixation areas were fewer, and total scanning length and mean scanning length were shorter for schizophrenic patients than for controls. For card II, in the non-popular response group, eye fixation frequency upon area 5 + 6 (red) was higher for schizophrenic patients. For card VIII, in the popular response group, eye fixation frequency upon area 5 + 6 (pink) was lower for schizophrenic patients. For cards II and VIII, the number of eye fixations was inversely correlated with negative symptoms. For card II, total scanning length tended to be inversely correlated with negative symptoms, and mean eye fixation time was correlated with negative symptoms. The number of eye fixation areas was inversely correlated with positive symptoms. For card VIII, eye fixation frequency in a stimulative area tended to be correlated with positive symptoms. Scanning behaviors in schizophrenic patients are affected by characteristics of visual stimuli, and partially by clinical symptoms.

Apolipoprotein E polymorphisms in Japanese patients with polypoidal choroidal vasculopathy and exudative age-related macular degeneration.

PubMed

Gotoh, Norimoto; Kuroiwa, Sachiko; Kikuchi, Takanobu; Arai, Jun; Arai, Satoko; Yoshida, Noriko; Yoshimura, Nagahisa

2004-10-01

To study the genotypes, allelic frequencies, and polymorphisms of apolipoprotein E (Apo E) in unrelated Japanese patients with polypoidal choroidal vasculopathy (PCV) or exudative age-related macular degeneration (AMD) and control subjects without macular degeneration. Cross-sectional study. Blood samples from 225 subjects older than 50 years were used. The 225 subjects included 58 patients with PCV, 85 with AMD, and 82 without macular degeneration. Coding exons of the Apo E gene were amplified by polymerase chain reaction, and the DNA sequences were determined by direct sequencing with an automated sequencer. Apo E epsilon3/epsilon3 was the most frequent genotype with a prevalence of 79.3% in PCV patients, 76.5% in AMD patients, and 67.1% in the control subjects. However, the differences in the percentages were not statistically significant among the three groups. The most frequently found allele in the three groups was epsilon3. Patients with PCV and AMD were less likely to have epsilon2 and epsilon4 than the control subjects, but the differences were not statistically significant. Five minor Apo E single nucleotide polymorphisms, including epsilon5 and epsilon7, were found. Japanese patients with PCV and AMD were less likely to have epsilon2 and epsilon4 polymorphisms, but the differences from the normals were not statistically significant for the Apo E genotypes and allelic frequencies.

High prevalence of factor V Leiden and prothrombin G20101A mutations in Kashmiri patients with venous thromboembolism.

PubMed

Shafia, Syed; Zargar, Mahrukh H; Khan, Nabeela; Ahmad, Rehana; Shah, Zafar Amin; Asimi, Ravouf

2018-05-15

The genetic variants of the factor V (G1691A), prothrombin (G20210A) and MTHFR (C677T) genes have been widely implicated as inherited risk factors for developing venous thrombosis. This study was undertaken to reveal the frequency of these mutations in Kashmiri patients with venous thromboembolism. A case-control study was designed with 250 VTE patients and 250 healthy controls. The mutations were analysed using ARMS-PCR and PCR-RFLP approach. The factor V Leiden G1691A mutation was found in 17/250 (6.8%) VTE patients and prothrombin G20210A mutation was found in 7/250 (2.8%) VTE patients while no mutation was found in any of the healthy controls. Both the mutations were found to be significantly associated with the increased risk of VTE (p = 0.0001 and 0.0150 respectively) while no association of VTE risk with MTHFR C677T polymorphism was found (p = 0.53). The increased frequency of factor V Leiden G1691A and prothrombin G20210A mutation in VTE patients indicates a significant role of these mutations in the development of VTE in our population. We therefore suggest the routine screening of these two mutations as thrombophilic markers in Kashmiri patients with venous thromboembolism. Copyright © 2018 Elsevier B.V. All rights reserved.

Use of Benzodiazepines in Alzheimer’s Disease: A Systematic Review of Literature

PubMed Central

Defrancesco, Michaela; Marksteiner, Josef; Fleischhacker, W. Wolfgang; Blasko, Imrich

2015-01-01

Background: Benzodiazepines are frequently prescribed in patients with Alzheimer’s disease. Unfortunately, studies evaluating their benefits and risks in these patients are limited. Methods: Clinical trials focusing on the effect of benzodiazepines on cognitive functions, disease progression, behavioral symptoms, sleep disturbances, and the general frequency of benzodiazepine use were included in this review. Published articles from January 1983 to January 2015 were identified using specific search terms in MEDLINE and PubMed Library according to the recommendations of The Strengthening the Reporting of Observational Studies in Epidemiology initiative. Results: Of the 657 articles found, 18 articles met predefined selection criteria and were included in this review (8 on frequency, 5 on cognitive functions, 5 on behavioral and sleep disturbances). The frequency of benzodiazepine use ranged from 8.5% to 20%. Five studies reported accelerated cognitive deterioration in association with benzodiazepine use. Two studies reported clinical efficacy for lorazepam and alprazolam to reduce agitation in Alzheimer’s disease patients. No evidence was found for an improvement of sleep quality using benzodiazepines. Conclusion: This systematic review shows a relatively high prevalence of benzodiazepine use but limited evidence for clinical efficacy in Alzheimer’s disease patients. However, there is a paucity of methodologically high quality controlled clinical trials. Our results underscore a need for randomized controlled trials in this area. PMID:25991652

Effect of the consumption of a fermented dairy product containing Bifidobacterium lactis DN-173 010 on constipation in childhood: a multicentre randomised controlled trial (NTRTC: 1571).

PubMed

Tabbers, Merit M; Chmielewska, Ania; Roseboom, Maaike G; Boudet, Claire; Perrin, Catherine; Szajewska, Hania; Benninga, Marc A

2009-03-18

Constipation is a frustrating symptom affecting 3% of children worldwide. Randomised controlled trials show that both polyethylene glycol and lactulose are effective in increasing defecation frequency in children with constipation. However, in 30-50%, these children reported abdominal pain, bloating, flatulence, diarrhoea, nausea and bad taste of the medication. Two recent studies have shown that the fermented dairy product containing Bifidobacterium lactis strain DN-173 010 is effective in increasing stool frequency in constipation-predominant irritable bowel syndrome patients with a defecation frequency < 3/week and in constipated women with a defecation frequency < 3/week. Goal of this study is to determine whether this fermented dairy product is effective in the treatment of constipated children with a defecation frequency < 3/week. It is a two nation (The Netherlands and Poland) double-blind, placebo-controlled randomised multicentre trial in which 160 constipated children (age 3-16 years) with a defecation frequency <3/week will be randomly allocated to consume a fermented dairy product containing Bifidobacterium lactis DN-173 010 or a control product, twice a day, for 3 weeks. During the study all children are instructed to try to defecate on the toilet for 5-10 minutes after each meal (3 times a day) and daily complete a standardized bowel diary. Primary endpoint is stool frequency. Secondary endpoints are stool consistency, faecal incontinence frequency, pain during defecation, digestive symptoms (abdominal pain, flatulence), adverse effects (nausea, diarrhoea, bad taste) and intake of rescue medication (Bisacodyl). Rate of success and rate of responders are also evaluated, with success defined as > or = 3 bowel movements per week and < or =1 faecal incontinence episode over the last 2 weeks of product consumption and responder defined as a subject reporting a stool frequency > or = 3 on the last week of product consumption. To demonstrate that the success percentage in the intervention group will be 35% and the success percentage in the control group (acidified milk without ferments, toilet training, bowel diary) will be 15%, with alpha 0.05 and power 80%, a total sample size of 160 patients was calculated. This study is aimed to show that the fermented dairy product containing Bifidobacterium lactis strain DN-173 010 is effective in increasing stool frequency after 3 weeks of product consumption in children with functional constipation and a defecation frequency < 3/week.

Effect of the consumption of a fermented dairy product containing Bifidobacterium lactis DN-173 010 on constipation in childhood: a multicentre randomised controlled trial (NTRTC: 1571)

PubMed Central

Tabbers, Merit M; Chmielewska, Ania; Roseboom, Maaike G; Boudet, Claire; Perrin, Catherine; Szajewska, Hania; Benninga, Marc A

2009-01-01

Background Constipation is a frustrating symptom affecting 3% of children worldwide. Randomised controlled trials show that both polyethylene glycol and lactulose are effective in increasing defecation frequency in children with constipation. However, in 30–50%, these children reported abdominal pain, bloating, flatulence, diarrhoea, nausea and bad taste of the medication. Two recent studies have shown that the fermented dairy product containing Bifidobacterium lactis strain DN-173 010 is effective in increasing stool frequency in constipation-predominant irritable bowel syndrome patients with a defecation frequency < 3/week and in constipated women with a defecation frequency < 3/week. Goal of this study is to determine whether this fermented dairy product is effective in the treatment of constipated children with a defecation frequency < 3/week. Methods/design It is a two nation (The Netherlands and Poland) double-blind, placebo-controlled randomised multicentre trial in which 160 constipated children (age 3–16 years) with a defecation frequency <3/week will be randomly allocated to consume a fermented dairy product containing Bifidobacterium lactis DN-173 010 or a control product, twice a day, for 3 weeks. During the study all children are instructed to try to defecate on the toilet for 5–10 minutes after each meal (3 times a day) and daily complete a standardized bowel diary. Primary endpoint is stool frequency. Secondary endpoints are stool consistency, faecal incontinence frequency, pain during defecation, digestive symptoms (abdominal pain, flatulence), adverse effects (nausea, diarrhoea, bad taste) and intake of rescue medication (Bisacodyl). Rate of success and rate of responders are also evaluated, with success defined as ≥ 3 bowel movements per week and ≤1 faecal incontinence episode over the last 2 weeks of product consumption and responder defined as a subject reporting a stool frequency ≥ 3 on the last week of product consumption. To demonstrate that the success percentage in the intervention group will be 35% and the success percentage in the control group (acidified milk without ferments, toilet training, bowel diary) will be 15%, with alpha 0.05 and power 80%, a total sample size of 160 patients was calculated. Conclusion This study is aimed to show that the fermented dairy product containing Bifidobacterium lactis strain DN-173 010 is effective in increasing stool frequency after 3 weeks of product consumption in children with functional constipation and a defecation frequency < 3/week. PMID:19296845

Study of HLA Class I gene in Indian schizophrenic patients of Siliguri, West Bengal.

PubMed

Singh, Bisu; Bera, Nirmal Kumar; De, Santanu; Nayak, Chittaranjan; Chaudhuri, Tapas Kumar

2011-09-30

The authors studied the prevalence of the human leukocyte antigen (HLA) Class I gene in 136 (85 male, 51 female) India-born schizophrenia patients residing in and around the Siliguri subdivision of West Bengal by the PCR-SSP method. The control group consisted of 150 age- and sex-matched healthy individuals from the same ethnic group as the patients. Increased frequency of HLA A*03 as well as decreased frequencies of HLA A*31 and HLA B*51, was noted. The study suggests the possible existence of a susceptibility locus for schizophrenia within the HLA region. Copyright © 2011 Elsevier Ireland Ltd. All rights reserved.

Pain Ratings, Psychological Functioning and Quantitative EEG in a Controlled Study of Chronic Back Pain Patients

PubMed Central

Schmidt, Stefan; Naranjo, José Raúl; Brenneisen, Christina; Gundlach, Julian; Schultz, Claudia; Kaube, Holger; Hinterberger, Thilo; Jeanmonod, Daniel

2012-01-01

Objectives Several recent studies report the presence of a specific EEG pattern named Thalamocortical Dysrhythmia (TCD) in patients with severe chronic neurogenic pain. This is of major interest since so far no neuroscientific indicator of chronic pain could be identified. We investigated whether a TCD-like pattern could be found in patients with moderate chronic back pain, and we compared patients with neuropathic and non-neuropathic pain components. We furthermore assessed the presence of psychopathology and the degree of psychological functioning and examined whether the strength of the TCD-related EEG markers is correlated with psychological symptoms and pain ratings. Design Controlled clinical trial with age and sex matched healthy controls. Methods Spontaneous EEG was recorded in 37 back pain patients and 37 healthy controls. Results We were not able to observe a statistically significant TCD effect in the EEG data of the whole patient group, but a subsample of patients with evidence for root damage showed a trend in this direction. Pain patients showed markedly increased psychopathology. In addition, patients' ratings of pain intensity within the last 1 to 12 months showed strong correlations with EEG power, while psychopathology was correlated to the peak frequency. Conclusion Out of several possible interpretations the most likely conclusion is that only patients with severe pain as well as root lesions with consecutive thalamic deafferentation develop the typical TCD pattern. Our primary method of defining ‘neuropathic pain’ could not reliably determine if such a deafferentation was present. Nevertheless the analysis of a specific subsample as well as correlations between pain ratings, psychopathology and EEG power and peak frequency give some support to the TCD concept. Trial Registration ClinicalTrials.gov NCT00744575 PMID:22431961

Reduction of regulatory T cells in skin lesions but not in peripheral blood of patients with systemic scleroderma.

PubMed

Klein, S; Kretz, C C; Ruland, V; Stumpf, C; Haust, M; Hartschuh, W; Hartmann, M; Enk, A; Suri-Payer, E; Oberle, N; Krammer, P H; Kuhn, A

2011-08-01

To determine the frequency and suppressive capacity of regulatory T cells (T(reg)) and their association with clinical parameters in patients with systemic scleroderma (SSc). Peripheral blood from 25 patients with SSc, 15 patients with localised scleroderma (LS) and 29 healthy controls (HC) was studied. Analysis of CD4(+) forkhead box P3 (Foxp3)(+) and CD4(+)CD25(++)Foxp3(+) T(reg) subpopulations was carried out by flow cytometry and cell proliferation was quantified by (3)H-thymidine incorporation. Quantitative analysis of T(reg) was further performed in skin biopsies from 17 patients with SSc and 21 patients with LS using anti-CD4 and anti-Foxp3 monoclonal antibodies for immunohistochemistry. The frequency of CD4(+)Foxp3(+) and CD4(+)CD25(++)Foxp3(+) T(reg) in peripheral blood from patients with SSc was not significantly different from that of patients with LS or HC. The suppressive capacity of CD4(+)CD25(++) T(reg) in SSc was also found to be similar to that of HC. Phenotypic and functional data revealed no significant difference between the limited or diffuse form of SSc. Moreover, therapy with bosentan showed no significant effect on the frequency of T(reg) during the course of the disease. However, the frequency of T(reg) in skin lesions from patients with SSc or LS, determined as the percentage of CD4(+) cells expressing Foxp3 in the inflammatory infiltrate, was significantly reduced compared with other inflammatory skin diseases. These results indicate that although the authors found no defect in the frequency or function of peripheral T(reg) subpopulations, the reduction of CD4(+)Foxp3(+) T(reg) in the skin of patients with SSc may be important in the pathogenesis of the disease.

Evaluation of whether the ACE gene I/D polymorphism constitutes a risk factor for chronic obstructive pulmonary disease in the Turkish population.

PubMed

Ayada, C; Toru, U; Genç, O; Yerlikaya, A; Sahin, S; Turgut, S; Turgut, G

2014-12-12

Chronic obstructive pulmonary disease (COPD) is characterized by progressive airflow obstruction that occurs as a result of the normal inflammatory process to protect against harmful irritants and chemicals. Another physiological regulatory process, the renin angiotensin system (RAS), plays an important role in the pathology of many diseases. Angiotensin converting enzyme (ACE) is a key enzyme of RAS. We investigated the frequency of the ACE gene I/D polymorphism in patients with COPD in Turkey. This study was performed on 47 unrelated patients with COPD and 64 healthy subjects. DNA samples were isolated from peripheral blood, and ACE DNA was amplified by polymerase chain reaction. The frequencies of ACE genotypes were 27.7, 55.3, and 17% for DD, ID, and II in the COPD group, respectively, and 43.8, 43.8, and 12.4% in the control group. There was no statistically significant difference between groups (X(2) = 3.078; df = 2; P = 0.220). The distributions of ACE gene D alleles were 38.2% (N = 52) in the COPD group and 61.8% (N = 84) in the control group; and those of I alleles were 48.8% (N = 42) in the COPD group and 51.2% (N = 44) in the control group. There was no statistically significant difference between groups for allele frequency (X(2) = 2.419; df = 2; P = 0.120). We believe these results can be useful for large-scale population genetic research considering the frequency of the ACE gene variation in COPD patients in the Turkish population.

Augmentation and impulsive behaviors in restless legs syndrome: Coexistence or association?

PubMed

Heim, Beatrice; Djamshidian, Atbin; Heidbreder, Anna; Stefani, Ambra; Zamarian, Laura; Pertl, Marie-Theres; Brandauer, Elisabeth; Delazer, Margarete; Seppi, Klaus; Poewe, Werner; Högl, Birgit

2016-07-05

To assess the frequency of impulse control disorders (ICDs) in patients with restless legs syndrome (RLS) with and without augmentation under dopaminergic therapy in a case-control study. Augmentation and ICDs are both serious complications of dopaminergic treatment of RLS but little is known about possible associations between these drug-induced disorders. In total, 58 patients with idiopathic RLS diagnosed according to the International Restless Legs Syndrome Study Group criteria were recruited. Of these, 35 patients had augmentation. The frequency of ICD symptoms was assessed using semi-structural interviews. Demographic variables did not differ between patients with RLS with and without augmentation but those with augmentation took higher dopaminergic medication than patients without augmentation. Twenty-three patients with RLS (39.7%) had ICD symptoms, with 12 patients (20.7%) having definitive ICDs. Patients with augmentation had an increased risk of expressing ICD symptoms (p = 0.007, odds ratio 5.64, 95% confidence interval 1.59-20.02). Patients with RLS with augmentation have an almost 6-fold increased risk of exhibiting ICD symptoms. This implies that augmentation and ICDs are related and may share a common pathophysiology. Moreover, our results have clinical implications, suggesting that patients with RLS with augmentation should be screened for ICD symptoms. © 2016 American Academy of Neurology.

Auditory discrimination training for tinnitus treatment: the effect of different paradigms.

PubMed

Herraiz, Carlos; Diges, I; Cobo, P; Aparicio, J M; Toledano, A

2010-07-01

Acoustic deprivation, i.e. hearing loss, is responsible for a cascade of processes resulting in reorganisation of the cortex. Tinnitus mechanisms are explained by synchronization of the neural spontaneous activity and might be related to cortical re-mapping. Auditory discrimination training (ADT) has demonstrated in both animals and humans to induce tonotopical changes in the auditory pathways through neural plasticity. We hypothesize that ADT could have some effect on tinnitus perception. The objective of this study is to compare the effect on tinnitus following two paradigms of ADT. Only patients from 20 to 60 years of age were recruited. Inclusion criteria were pure tone tinnitus of mild or moderate handicap according to the Tinnitus Handicap Inventory score (<56). ADT patients were randomized in two groups: SAME (ADT in the same frequency of tinnitus pitch, 20 patients) and NONSAME (ADT in the frequency one-octave below tinnitus pitch, 21 patients). Groups of pair of tones (70% standard tones ST, 30% deviant tones ST + 0.1-0.5 kHz) were randomly mixed for 20 min/day during 1 month. Patient had to mark when the two sounds of the pair were similar or different. Control group included 26 patients from the waiting list (WLG). Patients were also divided according to the trained frequency and the deepest hearing-impaired frequency. Outcome parameters were set up according to the answer to the question "is your tinnitus better, same, or worse with the treatment?" (RESP), the tinnitus handicap inventory (THI) and the visual analogue scale from 1 to 10 on tinnitus intensity (VAS). Tinnitus improved in 42.2% of the patients (RESP). VAS and THI scores were reduced but only THI differences were statistically significant (P = 0.003). ADT patients improved significantly compared with WLG in RESP and THI scores (P < 0.01). Training frequencies one-octave below the tinnitus pitch (NONSAME) decreased significantly THI scores compared with patients trained frequencies similar to tinnitus pitch (SAME, P = 0.035). RESP and VAS scores decreased more in NONSAME group though differences were not significant. We did not find any differences when comparing the group training the deepest hearing-impaired frequency and the group who trained other frequencies. Auditory discrimination training significantly improved tinnitus handicap compared to a waiting list group. Those patients who trained frequencies one octave below the tinnitus pitch had better outcome than those who performed the ADT with frequencies similar to the tinnitus pitch (P = 0.035).

Tailored activities to manage neuropsychiatric behaviors in persons with dementia and reduce caregiver burden: a randomized pilot study.

PubMed

Gitlin, Laura N; Winter, Laraine; Burke, Janice; Chernett, Nancy; Dennis, Marie P; Hauck, Walter W

2008-03-01

To test whether the Tailored Activity Program (TAP) reduces dementia-related neuropsychiatric behaviors, promotes activity engagement, and enhances caregiver well-being. Prospective, two-group (treatment, wait-list control), randomized, controlled pilot study with 4 months as main trial endpoint. At 4 months, controls received the TAP intervention and were reassessed 4 months later. Patients' homes. Sixty dementia patients and family caregivers. The eight-session occupational therapy intervention involved neuropsychological and functional testing, selection, and customization of activities to match capabilities identified in testing, and instruction to caregivers in use of activities. Behavioral occurrences, activity engagement, and quality of life in dementia patients; objective and subjective burden and skill enhancement in caregivers. At 4 months, compared with controls, intervention caregivers reported reduced frequency of problem behaviors, and specifically for shadowing and repetitive questioning, and greater activity engagement including the ability to keep busy. Fewer intervention caregivers reported agitation or argumentation. Caregiver benefits included fewer hours doing things and being on duty, greater mastery, self-efficacy, and skill enhancement. Wait-list control participants following intervention showed similar benefits for reductions in behavioral frequency and caregiver hours doing things for the patient and mastery. Caregivers with depressed symptoms derived treatment benefits similar to nondepressed caregivers. Tailoring activities to the capabilities of dementia patients and training families in activity use resulted in clinically relevant benefits for patients and caregivers. Treatment minimized trigger behaviors for nursing home placement and reduced objective caregiver burden. Noteworthy is that depressed caregivers effectively engaged in and benefited from the intervention.

Functional Outcome of Neurologic-Controlled HAL-Exoskeletal Neurorehabilitation in Chronic Spinal Cord Injury: A Pilot With One Year Treatment and Variable Treatment Frequency.

PubMed

Jansen, Oliver; Schildhauer, Thomas A; Meindl, Renate C; Tegenthoff, Martin; Schwenkreis, Peter; Sczesny-Kaiser, Matthias; Grasmücke, Dennis; Fisahn, Christian; Aach, Mirko

2017-12-01

Longitudinal prospective study. Whether 1-year HAL-BWSTT of chronic spinal cord injured patients can improve independent ambulated mobility further as a function of training frequency, after an initial 3-month training period. Eight patients with chronic SCI were enrolled. They initially received full standard physical therapy and neurorehabilitation in the acute/subacute posttrauma phase. During this trial, all patients first underwent a daily (5 per week) HAL-BWSTT for 12 weeks. Subsequently, these patients performed a 40-week HAL-BWSTT with a training session frequency of either 1 or 3 to 5 sessions per week. The patients' functional status including HAL-associated treadmill-walking time, -distance, and -speed with additional analysis of gait pattern, and their independent (without wearing the robot suit) functional mobility improvements, were assessed using the 10-Meter-Walk Test (10MWT), Timed-Up-and-Go Test (TUG) and 6-Minute-Walk Test (6MinWT) on admission, at 6 weeks, 12 weeks, and 1 year after enrollment. The data were analyzed separately for the 2 training frequency subgroups after the initial 12-week training period, which was identical in both groups. During the 1-year follow-up, HAL-associated walking parameters and independent functional improvements were maintained in all the patients. This result held irrespective of the training frequency. Long-term 1-year maintenance of HAL-associated treadmill walking parameters and of improved independent walking abilities after initial 12 weeks of daily HAL-BWSTT is possible and depends mainly on the patients' ambulatory status accomplished after initial training period. Subsequent regular weekly training, but not higher frequency training, seems to be sufficient to preserve the improvements accomplished.

Alterations in Diets of Patients With Nonceliac Gluten Sensitivity Compared With Healthy Individuals.

PubMed

Zingone, Fabiana; Bartalini, Chiara; Siniscalchi, Monica; Ruotolo, Monica; Bucci, Cristina; Morra, Ivonne; Iovino, Paola; Ciacci, Carolina

2017-01-01

There is evidence that food components beyond gluten cause symptoms in patients with gluten sensitivity without celiac disease (nonceliac gluten sensitivity [NCGS]). We investigated the diets and nutritional characteristics of patients with NCGS. We performed a prospective observational study of 29 patients with NCGS seen at the outpatient clinic for celiac disease and other food intolerances of the University of Salerno in Italy from September 2015 through April 2016. Our study also included 37 control subjects. An experienced dietitian administered a validated food frequency questionnaire (from the European Prospective Investigation into Cancer and Nutrition) to collect information on amounts of common foods consumed. Patients and control subjects also completed the Eating Attitudes Test for diet-related disorders. Patients with NCGS completed the Minnesota Multiphasic Personality Inventory 2-I questionnaire. Differences in frequencies between patients and control subjects were calculated using chi-square test, whereas differences between continuous variables were calculated using Student t test. All tests were 2-tailed with significance level set at P < .05. Comparing the mean value of food daily eaten, we found that patients with NCGS ate smaller amounts of bread, rice, pasta, and cheese than control subjects. The patients ingested lower mean amounts of carbohydrates (P < .001), proteins (P = .001), fiber (P = .002), and polyunsaturated fatty acids (P = .01). More patients with NCGS than control subjects reported avoiding fruit, vegetables, milk, and dairy products, as well as snacks and mixed spices that are traditionally considered unsafe for people with gastrointestinal symptoms. Seven patients and 3 control subjects with scores ≥20 on the Eating Attitudes Test were invited for a psychological consultation; it did not confirm the presence of altered eating behaviors. Patients with NCGS had scores >65 from the Minnesota Multiphasic Personality Inventory, indicating a high level of concern for their health. In an observational study, we found that patients with NCGS eat different foods than healthy individuals; patients consume lower levels of proteins, carbohydrates, fiber, and polyunsaturated fatty acids. Their diets should be routinely analyzed and possibly corrected to avoid nutritional deficiencies. Copyright © 2017 AGA Institute. Published by Elsevier Inc. All rights reserved.

Intraoperative Low-frequency Electroacupuncture under General Anesthesia Improves Postoperative Recovery in a Randomized Trial.

PubMed

Grech, Dennis; Li, Zhifeng; Morcillo, Patrick; Kalyoussef, Evelyne; Kim, David D; Bekker, Alex; Ulloa, Luis

2016-10-01

Neuronal stimulation improves physiological responses to infection and trauma, but the clinical potential of this strategy is unknown. We hypothesized that transdermal neural stimulation through low-frequency electroacupuncture might control the immune responses to surgical trauma and expedite the postoperative recovery. However, the efficiency of electroacupuncture is questioned due to the placebo effect. Here, electroacupuncture was performed on anesthetized patients to avoid any placebo. This is a prospective double-blinded pilot trial to determine whether intraoperative electroacupuncture on anesthetized patients improves postoperative recovery. Patients with electroacupuncture required 60% less postoperative analgesic, even they had pain scores similar to those in the control patients. Electroacupuncture prevented postoperative hyperglycemia and attenuated serum adrenocorticotropic hormone in the older and heavier group of patients. From an immunological perspective, electroacupuncture did not affect the protective immune responses to surgical trauma, including the induction of interleukin-6 and interleukin-10. The most significant immunological effect of electroacupuncture was enhancing transforming growth factor-β1 production during surgery in the older and lighter group of patients. These results suggest that intraoperative electroacupuncture on anesthetized patients can reduce postoperative use of analgesics and improve immune and stress responses to surgery. Copyright © 2016. Published by Elsevier B.V.

Changes After Voice Therapy in Acoustic Voice Analysis of Chinese Patients With Voice Disorders.

PubMed

Lu, Dan; Chen, Fei; Yang, Hui; Yu, Rong; Zhou, Qi; Zhang, Xinyuan; Ren, Jia; Zheng, Yitao; Zhang, Xiaoyan; Zou, Jian; Wang, Haiyang; Liu, Jun

2018-05-01

This study aimed to evaluate the effects of voice therapy on patients with voice disorders by comparing the acoustic parameter changes before and after treatment. This is a retrospective study. Forty-five female patients with early-stage vocal nodules or polyps, postoperative patients, and patients with chronic laryngitis were divided into three subgroups. Videostroboscopic, acoustic analysis (fundamental frequency, jitter, shimmer, mean harmonics-to-noise ratio), and maximum phonation time (MPT) were measured before and after treatment. Fifty healthy female volunteers were the control group. After treatment, 24.4% of nodules or polyps had decreased in size, 11.1% of patients with chronic laryngitis and postoperative patients had reduced edema, and the mucosal wave of vocal folds had different degrees of recovery in postoperative patients. All acoustic analysis values and MPT in the patient group were statistically worse than in the control group, except for fundamental frequency before treatment (P > 0.05). After treatment, the acoustic analysis and MPT values were improved. However, the jitter, mean harmonics-to-noise ratio, and MPT values in the patient group were still worse after voice therapy than in the control group (P < 0.05). Most of acoustic analysis values can be useful as a complementary tool in diagnosis and assessment of voice disorders; however, it is not recommended to use a single parameter to assess voice quality. Voice therapy can improve voice quality in patients with voice disorders, but a period longer than 8 weeks is recommended for these patients. Copyright © 2018 The Voice Foundation. Published by Elsevier Inc. All rights reserved.

Correlations of EGF G1380A, bFGF C754G and VEGF T460C polymorphisms with malignant melanoma susceptibility and prognosis: A case-control study.

PubMed

Wang, Xin-Hua; Long, Zi-Wen

2017-06-20

This case-control study aims to investigate the correlations of EGF G1380A, bFGF C754G and VEGF T460C polymorphisms with the susceptibility and prognosis of malignant melanoma. A total of 153 patients with multiple primary melanomas were collected as the case group and another 170 healthy individuals were selected as the control group. ELISA and PCR-RFLP were performed to test the serum level of VEGF and to analyze the genotype as well as allele frequencies of VEGF T460C, EGF G1380A, and bFGF C754G, respectively. The patients were assigned into complete remission (CR), partial remission (PR) and non-remission groups after treatment. HE and CD34 staining were conducted in tissue samples of CR and PR patients. Event-free survival (EFS) and overall survival (OS) were measured. AA genotype of EGF G1380A and GG genotype of bFGF C754G had higher frequency distribution in the case group than the control group. Patients with AA genotype of EGF G1380 and GG genotype of bFGF C754G had an elevated VEGF level in comparison to other genotypes. Patients with GA+GG genotypes of EGF G1380A and CG+CC genotypes of bFGF C754G had higher EFS and OS than those with AA genotype and those with GG genotype, respectively. According to the haplotype analysis, the case group had a notably higher frequency of TAG and CAG along with while lower frequency of TGG and CGC compared with the control group. Logistic regression analysis revealed that the polymorphisms of EGF G1380A and bFGF C754G as well as the haploid TAG increased the susceptibility of malignant melanoma. The results indicated that EGF G1380A and bFGF C754G gene polymorphisms were associated with the susceptibility and prognosis of malignant melanoma, and that the polymorphisms of EGF G1380A and bFGF C754G as well as the haploid TAG increased the susceptibility of malignant melanoma. Copyright © 2017 Elsevier B.V. All rights reserved.

Association of the hypermethylation status of PTEN tumor suppressor gene with the risk of breast cancer among Kurdish population from Western Iran.

PubMed

Yari, Kheirollah; Payandeh, Mehrdad; Rahimi, Zohreh

2016-06-01

Breast cancer is the most common cancer with high morbidity and mortality among women worldwide. Aberrant hypermethylation in promoter regions of the tumor suppressor genes such as PTEN gene is a key event in the progression and development of breast cancer. The aim of the present study was to evaluate an association between PTEN gene methylation status with the risk of breast cancer in an Iranian population. We studied 255 individuals, including 103 patients with breast cancer, 102 first-degree female relatives of patients (mother, sister, or daughter of patients), and 50 healthy individuals as a control group. Genomic DNA was extracted from peripheral blood leukocytes, and the PTEN promoter methylation status was detected using methylation-specific PCR (MSP) method with specific methylated and unmethylated primers. In some samples, direct DNA sequencing was used to confirm the results obtained by the MSP method. The frequency of PTEN-methylated (MM) genotype was 6 % in the healthy control group, 23.3 % in relatives of patients, and 41.7 % in patients (χ (2) = 24.62, p < 0.001). There were significant differences in the frequency of PTEN-methylated genotype between healthy control compared to that in patients (χ (2) = 15.1, p < 0.001) and also compared to that in relatives of patients (χ (2) = 6.9, p = 0.009). In the presence of PTEN MM genotype, there was a 3.1-fold susceptibility to breast cancer compared to the UU genotype (p < 0.001). Also, in the presence of PTEN M allele, the risk of breast cancer was 2.71-fold compared to the presence of U allele (p < 0.001). Our findings indicated increased frequency of hypermethylation of PTEN promoter in the studied patients and their relatives that could be considered as one of the epigenetic factors affecting the risk of breast cancer in Iranians.