Outbreak of vancomycin-resistant enterococcus colonization among pediatric oncology patients.

PubMed

Nolan, Sheila M; Gerber, Jeffrey S; Zaoutis, Theoklis; Prasad, Priya; Rettig, Susan; Gross, Kimberly; McGowan, Karin L; Reilly, Anne F; Coffin, Susan E

2009-04-01

To detect the burden of vancomycin-resistant Enterococcus (VRE) colonization among pediatric oncology patients and to determine risk factors for VRE acquisition. Retrospective case-control study. The Children's Hospital of Philadelphia. Pediatric oncology patients hospitalized from June 2006 through December 2007. Prevalence surveys revealed an increased VRE burden among pediatric oncology patients. For the case-control study, the 16 case patients were pediatric oncology patients who had 1 stool sample negative for VRE at screening before having a stool sample positive for VRE at screening; the 62 control patients had 2 consecutive screenings in which stool samples were negative for VRE. Case and control patients were matched on the duration of the interval between screens. Analyses were performed to determine the association between multiple exposures and VRE acquisition. The prevalence survey revealed that 5 (9.6%) of 52 patients had unsuspected VRE colonization at the time of hospitalization. Multivariate analysis identified a lack of empirical contact precautions (odds ratio [OR], 17.16 [95% confidence interval {CI}, 1.49-198.21]; P= .02) and the presence of a gastrointestinal device (OR, 4.03 [95% CI, 1.04-15.56]; P= .04) as significant risk factors for acquisition of VRE. Observations in the interventional radiology department revealed that staff could not access the portions of the electronic medical record in which isolation precautions were documented. Simple interventions that granted access and that trained interventional radiology staff to review the need for precautions, coupled with enhanced infection control practices, interrupted ongoing transmission and reduced the proportion of VRE screens that were positive to 15 (1.2%) of 1,270. Inadequate communication with regard to infection control precautions can increase the risk of transmission of epidemiologically important organisms, particularly when patients receive care at multiple clinic locations. Adherence to infection control practices across the spectrum of care may limit the spread of resistant organisms.

Outbreak of Vancomycin-Resistant Enterococcus Colonization Among Pediatric Oncology Patients

PubMed Central

Nolan, Sheila M.; Gerber, Jeffrey S.; Zaoutis, Theoklis; Prasad, Priya; Rettig, Susan; Gross, Kimberly; McGowan, Karin L.; Reilly, Anne F.; Coffin, Susan E.

2010-01-01

OBJECTIVE To detect the burden of vancomycin-resistant Enterococcus (VRE) colonization among pediatric oncology patients and to determine risk factors for VRE acquisition. DESIGN Retrospective case-control study. SETTING The Children’s Hospital of Philadelphia. PATIENTS Pediatric oncology patients hospitalized from June 2006 through December 2007. METHODS Prevalence surveys revealed an increased VRE burden among pediatric oncology patients. For the case-control study, the 16 case patients were pediatric oncology patients who had 1 stool sample negative for VRE at screening before having a stool sample positive for VRE at screening; the 62 control patients had 2 consecutive screenings in which stool samples were negative for VRE. Case and control patients were matched on the duration of the interval between screens. Analyses were performed to determine the association between multiple exposures and VRE acquisition. RESULTS The prevalence survey revealed that 5 (9.6%) of 52 patients had unsuspected VRE colonization at the time of hospitalization. Multivariate analysis identified a lack of empirical contact precautions (odds ratio [OR], 17.16 [95% confidence interval {CI}, 1.49–198.21]; P = .02) and the presence of a gastrointestinal device (OR, 4.03 [95% CI, 1.04–15.56]; P = .04) as significant risk factors for acquisition of VRE. Observations in the interventional radiology department revealed that staff could not access the portions of the electronic medical record in which isolation precautions were documented. Simple interventions that granted access and that trained interventional radiology staff to review the need for precautions, coupled with enhanced infection control practices, interrupted ongoing transmission and reduced the proportion of VRE screens that were positive to 15 (1.2%) of 1,270. CONCLUSIONS Inadequate communication with regard to infection control precautions can increase the risk of transmission of epidemiologically important organisms, particularly when patients receive care at multiple clinic locations. Adherence to infection control practices across the spectrum of care may limit the spread of resistant organisms. PMID:19239375

[The protective efficacy of BCG against leprosy in São Paulo, Brazil].

PubMed

Lombardi, C; Pedrazzani, E S; Pedrazzani, J C; Ferreira Filho, P; Zicker, F

1995-11-01

The protection against leprosy conferred by BCG vaccination was evaluated in a case-control study. Selected for the study were 97 patients under 16 years of age who had been diagnosed with leprosy (cases) and 385 healthy persons (controls), who were matched according to sex, age, place of residence, and type of contact (intra- or extradomicilliary). The cases were selected from a register of active cases as well as a series of new leprosy patients treated in 50 centers in the city of São Paulo, Brasil. To estimate the protective effect of BCG, the prevalences of BCG scars among cases and controls were compared. The presence of one or more scars was associated with a protective efficacy of 90% (95% confidence interval: 78%-96%). Stratified analysis by age group, sex, socioeconomic level, and clinical form of leprosy did not reveal any important differences in the protection conferred by the vaccine. The significance of these findings and the appropriateness of using BCG in leprosy control programs is discussed.

Mesothelioma associated with the shipbuilding industry in coastal Virginia.

PubMed

Tagnon, I; Blot, W J; Stroube, R B; Day, N E; Morris, L E; Peace, B B; Fraumeni, J F

1980-11-01

A case-control study was undertaken to clarify reasons for a four-fold increased incidence of mesothelioma discovered among white males in coastal Tidewater, Va., from 1972 to 1978. Sixty-one cases were identified. Interviews with next of kin revealed that the excess was linked to employment in area shipyards. Three-fourths of the cases had been employed in the shipbuilding industry, nearly all beginning employment prior to 1950. Most were career employees, but an increased risk was also found among those who worked only temporarily, mainly during World War II, and were reportedly exposed to asbestos. More of the cases than controls were pipecoverers or pipefitters, but cases were reported to work in a variety of shipyard trades. Few of the mesothelioma cases were heavy smokers, a trend that may be related in part to the competing risks for fatal diseases caused by the interactions of smoking and asbestos exposure. Information obtained by interview for five of the six white females diagnosed with mesothelioma revealed that the husband of four had been employed in the shipbuilding industry.

Comparison of two control groups for estimation of oral cholera vaccine effectiveness using a case-control study design.

PubMed

Franke, Molly F; Jerome, J Gregory; Matias, Wilfredo R; Ternier, Ralph; Hilaire, Isabelle J; Harris, Jason B; Ivers, Louise C

2017-10-13

Case-control studies to quantify oral cholera vaccine effectiveness (VE) often rely on neighbors without diarrhea as community controls. Test-negative controls can be easily recruited and may minimize bias due to differential health-seeking behavior and recall. We compared VE estimates derived from community and test-negative controls and conducted bias-indicator analyses to assess potential bias with community controls. From October 2012 through November 2016, patients with acute watery diarrhea were recruited from cholera treatment centers in rural Haiti. Cholera cases had a positive stool culture. Non-cholera diarrhea cases (test-negative controls and non-cholera diarrhea cases for bias-indicator analyses) had a negative culture and rapid test. Up to four community controls were matched to diarrhea cases by age group, time, and neighborhood. Primary analyses included 181 cholera cases, 157 non-cholera diarrhea cases, 716 VE community controls and 625 bias-indicator community controls. VE for self-reported vaccination with two doses was consistent across the two control groups, with statistically significant VE estimates ranging from 72 to 74%. Sensitivity analyses revealed similar, though somewhat attenuated estimates for self-reported two dose VE. Bias-indicator estimates were consistently less than one, with VE estimates ranging from 19 to 43%, some of which were statistically significant. OCV estimates from case-control analyses using community and test-negative controls were similar. While bias-indicator analyses suggested possible over-estimation of VE estimates using community controls, test-negative analyses suggested this bias, if present, was minimal. Test-negative controls can be a valid low-cost and time-efficient alternative to community controls for OCV effectiveness estimation and may be especially relevant in emergency situations. Copyright © 2017. Published by Elsevier Ltd.

Trans-ethnic genome-wide association study of colorectal cancer identifies a new susceptibility locus in VTI1A

PubMed Central

Wang, Hansong; Burnett, Terrilea; Kono, Suminori; Haiman, Christopher A.; Iwasaki, Motoki; Wilkens, Lynne R.; Loo, Lenora W.M.; Berg, David Van Den; Kolonel, Laurence N.; Henderson, Brian E.; Keku, Temitope O.; Sandler, Robert S.; Signorello, Lisa B.; Blot, William J.; Newcomb, Polly A.; Pande, Mala; Amos, Christopher I.; West, Dee W.; Bézieau, Stéphane; Berndt, Sonja I.; Zanke, Brent W.; Hsu, Li; Lindor, Noralane M.; Haile, Robert W.; Hopper, John L.; Jenkins, Mark A.; Gallinger, Steven; Casey, Graham; Stenzel, Stephanie L.; Schumacher, Fredrick R.; Peters, Ulrike; Gruber, Stephen B.; Tsugane, Shoichiro; Stram, Daniel O.; Marchand, Loïc Le

2014-01-01

The genetic basis of sporadic colorectal cancer (CRC) is not well explained by known risk polymorphisms. Here we perform a meta-analysis of two genome-wide association studies in 2,627 cases and 3,797 controls of Japanese ancestry and 1,894 cases and 4,703 controls of African ancestry, to identify genetic variants that contribute to CRC susceptibility. We replicate genome-wide statistically significant associations (P < 5×10−8) in 16,823 cases and 18,211 controls of European ancestry. This study reveals a new pan-ethnic CRC risk locus at 10q25 (rs12241008, intronic to VTI1A; P=1.4×10−9), providing additional insight into the etiology of CRC and highlighting the value of association mapping in diverse populations. PMID:25105248

Trans-ethnic genome-wide association study of colorectal cancer identifies a new susceptibility locus in VTI1A.

PubMed

Wang, Hansong; Burnett, Terrilea; Kono, Suminori; Haiman, Christopher A; Iwasaki, Motoki; Wilkens, Lynne R; Loo, Lenora W M; Van Den Berg, David; Kolonel, Laurence N; Henderson, Brian E; Keku, Temitope O; Sandler, Robert S; Signorello, Lisa B; Blot, William J; Newcomb, Polly A; Pande, Mala; Amos, Christopher I; West, Dee W; Bézieau, Stéphane; Berndt, Sonja I; Zanke, Brent W; Hsu, Li; Lindor, Noralane M; Haile, Robert W; Hopper, John L; Jenkins, Mark A; Gallinger, Steven; Casey, Graham; Stenzel, Stephanie L; Schumacher, Fredrick R; Peters, Ulrike; Gruber, Stephen B; Tsugane, Shoichiro; Stram, Daniel O; Le Marchand, Loïc

2014-08-08

The genetic basis of sporadic colorectal cancer (CRC) is not well explained by known risk polymorphisms. Here we perform a meta-analysis of two genome-wide association studies in 2,627 cases and 3,797 controls of Japanese ancestry and 1,894 cases and 4,703 controls of African ancestry, to identify genetic variants that contribute to CRC susceptibility. We replicate genome-wide statistically significant associations (P<5 × 10(-8)) in 16,823 cases and 18,211 controls of European ancestry. This study reveals a new pan-ethnic CRC risk locus at 10q25 (rs12241008, intronic to VTI1A; P=1.4 × 10(-9)), providing additional insight into the aetiology of CRC and highlighting the value of association mapping in diverse populations.

Neuropathology of Cervical Dystonia

PubMed Central

Prudente, C.N.; Pardo, C.A.; Xiao, J.; Hanfelt, J.; Hess, E.J.; LeDoux, M.S.; Jinnah, H.A.

2012-01-01

The aim of this study was to search for neuropathological changes in postmortem brain tissue of individuals with cervical dystonia (CD). Multiple regions of formalin-preserved brains were collected from patients with CD and controls and examined with an extensive battery of histopathological stains in a two-stage study design. In stage one, 4 CD brains underwent a broad screening neuropathological examination. In stage two, these 4 CD brains were combined with 2 additional CD brains, and the subjective findings were quantified and compared to 16 age-matched controls. The initial subjective neuropathological assessment revealed only two regions with relatively consistent changes. The substantia nigra had frequent ubiquitin-positive intranuclear inclusions known as Marinesco bodies. Additionally, the cerebellum showed patchy loss of Purkinje cells, areas of focal gliosis and torpedo bodies. Other brain regions showed minor or inconsistent changes. In the second stage of the analysis, quantitative studies failed to reveal significant differences in the numbers of Marinesco bodies in CD versus controls, but confirmed a significantly lower Purkinje cell density in CD. Molecular investigations revealed 4 of the CD cases and 2 controls to harbor sequence variants in non-coding regions of THAP1, and these cases had lower Purkinje cell densities regardless of whether they had CD. The findings suggest that subtle neuropathological changes such as lower Purkinje cell density may be found in primary CD when relevant brain regions are investigated with appropriate methods. PMID:23195594

Australian Schizophrenia Research Bank: a database of comprehensive clinical, endophenotypic and genetic data for aetiological studies of schizophrenia.

PubMed

Loughland, Carmel; Draganic, Daren; McCabe, Kathryn; Richards, Jacqueline; Nasir, Aslam; Allen, Joanne; Catts, Stanley; Jablensky, Assen; Henskens, Frans; Michie, Patricia; Mowry, Bryan; Pantelis, Christos; Schall, Ulrich; Scott, Rodney; Tooney, Paul; Carr, Vaughan

2010-11-01

This article describes the establishment of the Australian Schizophrenia Research Bank (ASRB), which operates to collect, store and distribute linked clinical, cognitive, neuroimaging and genetic data from a large sample of people with schizophrenia and healthy controls. Recruitment sources for the schizophrenia sample include a multi-media national advertising campaign, inpatient and community treatment services and non-government support agencies. Healthy controls have been recruited primarily through multi-media advertisements. All participants undergo an extensive diagnostic and family history assessment, neuropsychological evaluation, and blood sample donation for genetic studies. Selected individuals also complete structural MRI scans. Preliminary analyses of 493 schizophrenia cases and 293 healthy controls are reported. Mean age was 39.54 years (SD = 11.1) for the schizophrenia participants and 37.38 years (SD = 13.12) for healthy controls. Compared to the controls, features of the schizophrenia sample included a higher proportion of males (cases 65.9%; controls 46.8%), fewer living in married or de facto relationships (cases 16.1%; controls 53.6%) and fewer years of education (cases 13.05, SD = 2.84; controls 15.14, SD = 3.13), as well as lower current IQ (cases 102.68, SD = 15.51; controls 118.28, SD = 10.18). These and other sample characteristics are compared to those reported in another large Australian sample (i.e. the Low Prevalence Disorders Study), revealing some differences that reflect the different sampling methods of these two studies. The ASRB is a valuable and accessible schizophrenia research facility for use by approved scientific investigators. As recruitment continues, the approach to sampling for both cases and controls will need to be modified to ensure that the ASRB samples are as broadly representative as possible of all cases of schizophrenia and healthy controls.

Gut microbiota in Parkinson disease in a northern German cohort.

PubMed

Hopfner, Franziska; Künstner, Axel; Müller, Stefanie H; Künzel, Sven; Zeuner, Kirsten E; Margraf, Nils G; Deuschl, Günther; Baines, John F; Kuhlenbäumer, Gregor

2017-07-15

Pathologic and epidemiologic studies suggest that Parkinson disease (PD) may in some cases start in the enteric nervous system and spread via the vagal nerve to the brainstem. Mounting evidence suggests that the gut microbiome plays an important role in the communication between gut and brain and that alteration of the gut microbiome is involved in the pathogenesis of numerous diseases, including Parkinson disease. The aim of this study was to determine whether Parkinson disease is associated with qualitative or quantitative changes in the gut microbiome. We analyzed the gut microbiome in 29 PD cases and 29 age-matched controls by next-generation-sequencing of the 16S rRNA gene and compared diversity indices and bacterial abundances between cases and controls. Alpha diversity measures and the abundance of major phyla did not differ between cases and controls. Beta diversity analyses and analysis on the bacterial family level revealed significant differences between cases and controls for four bacterial families. In keeping with recently published studies, Lactobacillaceae were more abundant in cases. Barnesiellaceae and Enterococcacea were also more abundant in cases in this study but not in other studies. Larger studies, accounting for drug effects and further functional investigations of the gut microbiome are necessary to delineate the role of the gut microbiome in the pathogenesis of PD. Copyright © 2017 Elsevier B.V. All rights reserved.

Control of Aedes aegypti Breeding: A Novel Intervention for Prevention and Control of Dengue in an Endemic Zone of Delhi, India

PubMed Central

Nagpal, B. N.; Gupta, Sanjeev Kumar; Shamim, Arshad; Vikram, Kumar; Srivastava, Aruna; Tuli, N. R.; Saxena, Rekha; Singh, Himmat; Singh, V. P.; Bhagat, V. N.; Yadav, N. K.; Valecha, Neena

2016-01-01

Background and objective The study is based on hypothesis that whether continuous entomological surveillance of Ae. aegypti and simultaneous appropriate interventions in key containers during non-transmission (December–May) months would have any impact on breeding of Aedes and dengue cases during the following transmission months (June–November). The impact of the surveillance and intervention measures undertaken during non-transmission months were assessed by entomological indicators namely container index (CI), house index (HI), pupal index (PI) and breteau index (BI). Methods A total of 28 localities of West Zone of Delhi with persistent dengue endemicity were selected for the study. Out of these localities, 20 were included in study group while other 8 localities were in control group. IEC and various Aedes breeding control activities were carried out in study group in both non-transmission and transmission season whereas control group did not have any such interventions during non-transmission months as per guidelines of MCD. These activities were undertaken by a team of investigators from NIMR and SDMC, Delhi. In control group, investigators from NIMR carried out surveillance activity to monitor the breeding of Aedes mosquito in localities. Results Comparison of baseline data revealed that all indices in control and study group of localities were comparable and statistically non-significant (p>0.05). In both study and control groups, indices were calculated after pooling data on seasonal basis, i.e., transmission and non-transmission months for both years. The test of significance conducted on all the four indices, i.e., HI, PI, CI, and BI, revealed a significant difference (p<0.05) between the study group and control group during transmission and non-transmission months except in HI. Due to consistent intervention measures undertaken in non-transmission months in study group, reduction in CI, HI, BI and PI was observed 63%, 62%, 64% and 99% respectively during transmission months as compared to control group where increase of 59%, 102%, 73% and 71% respectively. As a result of reduction in larval indices, no dengue case (except one NS1) was observed in study group, whereas 38 dengue cases were observed in control group. Conclusion Through this pilot study, it is concluded that proper intervention in non-transmission season reduces vector density and subsequently dengue cases in transmission season. PMID:27918577

Control of Aedes aegypti Breeding: A Novel Intervention for Prevention and Control of Dengue in an Endemic Zone of Delhi, India.

PubMed

Nagpal, B N; Gupta, Sanjeev Kumar; Shamim, Arshad; Vikram, Kumar; Srivastava, Aruna; Tuli, N R; Saxena, Rekha; Singh, Himmat; Singh, V P; Bhagat, V N; Yadav, N K; Valecha, Neena

2016-01-01

The study is based on hypothesis that whether continuous entomological surveillance of Ae. aegypti and simultaneous appropriate interventions in key containers during non-transmission (December-May) months would have any impact on breeding of Aedes and dengue cases during the following transmission months (June-November). The impact of the surveillance and intervention measures undertaken during non-transmission months were assessed by entomological indicators namely container index (CI), house index (HI), pupal index (PI) and breteau index (BI). A total of 28 localities of West Zone of Delhi with persistent dengue endemicity were selected for the study. Out of these localities, 20 were included in study group while other 8 localities were in control group. IEC and various Aedes breeding control activities were carried out in study group in both non-transmission and transmission season whereas control group did not have any such interventions during non-transmission months as per guidelines of MCD. These activities were undertaken by a team of investigators from NIMR and SDMC, Delhi. In control group, investigators from NIMR carried out surveillance activity to monitor the breeding of Aedes mosquito in localities. Comparison of baseline data revealed that all indices in control and study group of localities were comparable and statistically non-significant (p>0.05). In both study and control groups, indices were calculated after pooling data on seasonal basis, i.e., transmission and non-transmission months for both years. The test of significance conducted on all the four indices, i.e., HI, PI, CI, and BI, revealed a significant difference (p<0.05) between the study group and control group during transmission and non-transmission months except in HI. Due to consistent intervention measures undertaken in non-transmission months in study group, reduction in CI, HI, BI and PI was observed 63%, 62%, 64% and 99% respectively during transmission months as compared to control group where increase of 59%, 102%, 73% and 71% respectively. As a result of reduction in larval indices, no dengue case (except one NS1) was observed in study group, whereas 38 dengue cases were observed in control group. Through this pilot study, it is concluded that proper intervention in non-transmission season reduces vector density and subsequently dengue cases in transmission season.

Cigarette smoking and risk of pancreatic cancer: a clinic-based case-control study in the San Francisco Bay Area.

PubMed

Lea, C Suzanne; Holly, Elizabeth A; Bracci, Paige M

2015-11-01

Cigarette smoking is an established risk factor for pancreatic cancer (PC). We examined the association between cigarette smoking and PC in a San Francisco Bay Area clinic-based, case-control study. A total of 536 cases and sex and age frequency-matched controls (n = 869) were recruited predominately from the University of California San Francisco (UCSF) medical clinics between 2006 and 2011. Participants were interviewed in-person using structured questionnaires. Adjusted odds ratios (ORs) were computed. Forty-eight percent of cases and controls reported never having smoked cigarettes; 39% of cases and 40% of controls were former smokers; 13% of cases and 12% of controls were current smokers. No association was found for either former (OR = 0.85, 95% confidence interval [CI] = 0.66-1.1) or current cigarette smoking (men: OR = 1.0, 95% CI = 0.60-1.7; women: OR = 1.2, 95% CI = 0.73-2.1). No dose-response relationships were detected with number of cigarettes/day, smoking intensity, duration, or years since last smoked. Comparisons with a 1995-1999 population-based UCSF study demonstrated a significantly increased proportion of never smokers in this study (P < .001). This study revealed no significant associations between cigarette smoking and PC in the San Francisco Bay Area during 2006-2011. Data suggest a reduction in the duration of smoking within the referral population. Copyright © 2015 Elsevier Inc. All rights reserved.

The Case for Use of Simple Difference Scores to Test the Significance of Differences in Mean Rates of Change in Controlled Repeated Measurements Designs

ERIC Educational Resources Information Center

Overall, John E.; Tonidandel, Scott

2010-01-01

A previous Monte Carlo study examined the relative powers of several simple and more complex procedures for testing the significance of difference in mean rates of change in a controlled, longitudinal, treatment evaluation study. Results revealed that the relative powers depended on the correlation structure of the simulated repeated measurements.…

Continuing use of antithrombotic medications for patients with bleeding gastroduodenal ulcer requiring endoscopic hemostasis: a case-control study.

PubMed

Kawasaki, Keisuke; Nakamura, Shotaro; Kurahara, Koichi; Nagasue, Tomohiro; Yanai, Shunichi; Harada, Akira; Yaita, Hiroki; Fuchigami, Tadahiko; Matsumoto, Takayuki

2017-09-01

The aim of this study was to compare clinical characteristics and outcomes of bleeding gastroduodenal ulcer between patients taking antithrombotic medications and those not taking antithrombotic medications. We performed a case-control study of 346 patients with endoscopically verified bleeding gastroduodenal ulcer, which included 173 cases taking antithrombotic medications throughout peri-bleeding period and 173 age- and sex-matched controls not taking antithrombotic medications. The cases showed less frequent Helicobacter pylori (H. pylori) infections (45.1% versus 60.7%, p = .005), more frequent duodenal location (31.8% versus 19.1%, p = .009), and more frequent rebleeding (13.9% versus 5.8%, p = .02) than the controls. Multivariate analysis revealed that duodenal location (odds ratio [OR] 3.01, 95% confidence interval [CI] 1.37-6.65) and use of antithrombotic medications (OR 2.47, 95% CI 1.13-5.77) were independent factors for rebleeding. However, there were no differences in clinical outcomes, including final successful endoscopic hemostasis, need for surgical intervention, and mortality between cases and controls. Thromboembolic events did not occur in any cases and controls during the periendoscopic period. Low prevalence of H. pylori infection, frequent duodenal location, and high rebleeding rate are characteristics of patients with bleeding gastroduodenal ulcer under antithrombotic medications. Continuation of antithrombotic medications can be accepted for bleeding gastroduodenal ulcer.

Potential Psychosocial Risk Factors for Chronic TMD: Descriptive Data and Empirically Identified Domains from the OPPERA Case-Control Study

PubMed Central

Fillingim, Roger B.; Ohrbach, Richard; Greenspan, Joel D.; Knott, Charles; Dubner, Ronald; Bair, Eric; Baraian, Cristina; Slade, Gary D.; Maixner, William

2011-01-01

Case-control studies have consistently associated psychosocial factors with chronic pain in general, and with temporomandibular disorders (TMD) specifically. Moreover, a handful of prospective studies suggest that pre-existing psychosocial characteristics represent risk factors for new onset TMD. The current study presents psychosocial findings from the baseline case-control study of the Orofacial Pain Prospective Evaluation and Risk Assessment (OPPERA) cooperative agreement. For this study, 1,633 TMD-free controls and 185 TMD cases completed a battery of psychosocial instruments assessing general psychosocial adjustment and personality, affective distress, psychosocial stress, somatic awareness, and pain coping and catastrophizing. In bivariate and demographically-adjusted analyses, odds of TMD were associated with higher levels of psychosocial symptoms, affective distress, somatic awareness, and pain catastrophizing. Among controls, significant gender and ethnic group differences in psychosocial measures were observed, consistent with previous findings. Principal component analysis was undertaken to identify latent constructs revealing four components: stress and negative affectivity, global psychosocial symptoms, passive pain coping, and active pain coping. These findings provide further evidence of associations between psychosocial factors and TMD. Future prospective analyses in the OPPERA cohort will determine if the premorbid presence of these psychosocial factors predicts increased risk for developing new-onset TMD. PMID:22074752

Psychological autopsy study comparing suicide decedents, suicide ideators, and propensity score matched controls: results from the study to assess risk and resilience in service members (Army STARRS).

PubMed

Nock, M K; Dempsey, C L; Aliaga, P A; Brent, D A; Heeringa, S G; Kessler, R C; Stein, M B; Ursano, R J; Benedek, D

2017-11-01

The suicide rate has increased significantly among US Army soldiers over the past decade. Here we report the first results from a large psychological autopsy study using two control groups designed to reveal risk factors for suicide death among soldiers beyond known sociodemographic factors and the presence of suicide ideation. Informants were next-of-kin and Army supervisors for: 135 suicide cases, 137 control soldiers propensity-score-matched on known sociodemographic risk factors for suicide and Army history variables, and 118 control soldiers who reported suicide ideation in the past year. Results revealed that most (79.3%) soldiers who died by suicide have a prior mental disorder; mental disorders in the prior 30-days were especially strong risk factors for suicide death. Approximately half of suicide decedents tell someone that they are considering suicide. Virtually all of the risk factors identified in this study differed between suicide cases and propensity-score-matched controls, but did not significantly differ between suicide cases and suicide ideators. The most striking difference between suicides and ideators was the presence in the former of an internalizing disorder (especially depression) and multi-morbidity (i.e. 3+ disorders) in the past 30 days. Most soldiers who die by suicide have identifiable mental disorders shortly before their death and tell others about their suicidal thinking, suggesting that there are opportunities for prevention and intervention. However, few risk factors distinguish between suicide ideators and decedents, pointing to an important direction for future research.

The frequency and risk factors of allergy and asthma in children with autism--case-control study.

PubMed

Mrozek-Budzyn, Dorota; Majewska, Renata; Kiełyka, Agnieszka; Augustyniak, Małgorzata

2013-01-01

The evolution of autistic disorders in children depends on many factors, like concomitance of the other diseases, which can escalate the autistic symptoms. One of those groups are allergic diseases, which have one of the highest prevalence rates in children. The aim of this analysis was to determine the frequency of asthma and allergy in children with autism in comparison to controls and the risk factors of allergic diseases and asthma in both groups. Study population included 96 cases diagnosed with childhood or atypical autism and 192 controls matched individually by year of birth, gender and physician's practice. The analysis was performed in each group separately giving possibility to compare the results between study groups. The frequency of asthma and allergic diseases in both groups has not revealed any statistically significant differences. Children with autism have been affected by asthma in 5,2% and by allergy in 25,0%, controls in 4,7% and 21,9% respectively. All cases of asthma was diagnosed in boys, commonly allergy was also more frequent in boys than girls in both studied groups. However those differences was statistically insignificant. The father's allergy and asthma was revealed as a risk factor of allergy in children with autism. In controls additionally allergy or asthma diagnosed in mother or grandparent increased risk of allergy in children. Children with autism were affected by asthma and allergy with similar frequency like children without autistic disorders. Allergy in father was the risk factor of allergic diseases in children with autism.

What factors play a role in preventing self-immolation? Results from a case-control study in Iran

PubMed Central

Karim, Hosein; Schwebel, David C.; Bazargan-Hejazi, Shahrzad; Mohammadi, Reza; Choubsaz, Mansour; Heidari Zadie, Zahra; Ahmadi, Alireza

2015-01-01

Abstract: Background: To investigate factors related to prevention of self-immolation in west of Iran. Methods: In a case-control study, 30 consecutive cases of deliberate self-inflicted burns admitted to the regional burn center (Imam Khomeini hospital in Kermanshah province, Iran) were compared with controls selected from the community and matched by sex, age, district-county of residence, and rural vs urban living environment. The following characteristics relevant to preventing self-immolation were collected from all cases and controls: main domestic fuel used in the household, awareness about complications of burn injuries, and use of counseling services. Results: Descriptive analyses revealed that kerosene was the main domestic fuel in the household for 83% of cases. Not surprisingly, the main means of self-immolation in 93% of the patients was kerosene, with other fuels such as petrol and domestic gas used in remaining cases. The majority of cases and controls were aware of the potential complications of burn injuries. Use of counseling services was more common in controls. Conclusions: All three aspects of preventing self-immolation – having kerosene and other fuels in the home, being aware of the complications of burn injuries, and using counseling services were present in both the cases and controls. This suggests a large portion of residents in rural Iran are potential self-immolation victims. Increasing preventive strategies may reduce risk of suicide by self-immolation. PMID:26081518

Class, Control, and Contestation in Educational Organisations. ESA 841, Theory and Practice in Educational Administration.

ERIC Educational Resources Information Center

Watkins, Peter

The introductory essay in this volume presents a case study of class-based organizational control and contestation in secondary schools in Victoria (Australia) in the 1970s, based on a critical perspective derived from the Frankfurt school, a perspective that undertakes to reveal the power structures, class hierarchy, and legitimating ideologies…

A comparison of 'cough and cold' and pneumonia: risk factors for pneumonia in children under 5 years revisited.

PubMed

Fatmi, Zafar; White, Franklin

2002-12-01

The aim of this study was to identify and measure the risk factors differentiating upper respiratory infection from pneumonia. The World Health Organization's acute respiratory infection case management criteria were used. We studied 259 cases of pneumonia (cases) and 187 cases of 'cough and cold' (controls) among children under 5 years of age at a large tertiary-care hospital in Gilgit, Pakistan. While previous studies used healthy controls, in this study we used controls who had mild infection ('cough and cold'). In the multivariate logistic regression analysis, lack of immunization (adjusted odds ratio (AOR)=1.54, 95% CI 1.0, 2.3), previous history of pneumonia (AOR=1.77, 95% CI 1.16, 2.7), younger age (AOR for each preceding month in children aged up to 59 months=1.01, 95% CI 0.99, 1.03) and malnutrition (wasting) (AOR=2.2, 95% CI 1.0, 5.23) were revealed as important risk factors for pneumonia. Some of the factors reported in previous studies that used healthy controls were not found to be significant when 'cough and cold' children were used as controls. Nonetheless, malnutrition, younger age, low coverage of immunization and also early childhood mismanagement and respiratory damage were found to be significant factors for development of pneumonia.

Noninvasive assessment of T-wave abnormalities on precordial electrocardiograms in middle-aged professional bicyclists

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

Nishimura, T.; Kambara, H.; Chen, C.H.

Six middle-aged, active, professional bicyclists with T-wave abnormalities on precordial ECGs were studied noninvasively. Twenty-five aged-matched bicyclists without T-wave abnormalities served as the control subjects. Increased voltage of SV1 + RV5 was demonstrated in all subjects. A 5-year follow-up study revealed that these abnormalities of T-wave inversion became more pronounced with age, except in one case. VCGs showed enlargement of anterior QRS loop and discordant T loop, in all cases. On echocardiography, thickness of both the interventricular septum and the left ventricular posterior wall, and left ventricular mass were significantly increased compared with the control group. 201Tl myocardial scintigraphy atmore » rest and during exercise revealed no regional perfusion defects of the tracer in either case. We conclude that: (1) T-wave abnormalities of precordial ECGs in six middle-aged athletes were progressive in nature; and (2) these electrocardiographic abnormalities seem to be related to left ventricular hypertrophy induced by steady and strenuous training rather than to coronary artery disease.« less

The Mortality Penalty of Incarceration: Evidence from a Population-based Case-control Study of Working-age Males.

PubMed

Pridemore, William Alex

2014-06-01

There is a growing body of research on the effects of incarceration on health, though there are few studies in the sociological literature of the association between incarceration and premature mortality. This study examined the risk of male premature mortality associated with incarceration. Data came from the Izhevsk (Russia) Family Study, a large-scale population-based case-control design. Cases (n = 1,750) were male deaths aged 25 to 54 in Izhevsk between October 2003 and October 2005. Controls (n = 1,750) were selected at random from a city population register. The key independent variable was lifetime prevalence of incarceration. I used logistic regression to estimate mortality odds ratios, controlling for age, hazardous drinking, smoking status, marital status, and education. Seventeen percent of cases and 5 percent of controls had been incarcerated. Men who had been incarcerated were more than twice as likely as those who had not to experience premature mortality (odds ratio = 2.2, 95 percent confidence interval: 1.6-3.0). Relative to cases with no prior incarceration, cases who had been incarcerated were more likely to die from infectious diseases, respiratory diseases, non-alcohol-related accidental poisonings, and homicide. Taken together with other recent research, these results from a rigorous case-control design reveal not only that incarceration has durable effects on illness, but that its consequences extend to a greater risk of early death. I draw on the sociology of health literature on exposure, stress, and social integration to speculate about the reasons for this mortality penalty of incarceration. © American Sociological Association 2014.

Mediation analysis of alcohol consumption, DNA methylation, and epithelial ovarian cancer.

PubMed

Wu, Dongyan; Yang, Haitao; Winham, Stacey J; Natanzon, Yanina; Koestler, Devin C; Luo, Tiane; Fridley, Brooke L; Goode, Ellen L; Zhang, Yanbo; Cui, Yuehua

2018-03-01

Epigenetic factors and consumption of alcohol, which suppresses DNA methylation, may influence the development and progression of epithelial ovarian cancer (EOC). However, there is a lack of understanding whether these factors interact to affect the EOC risk. In this study, we aimed to gain insight into this relationship by identifying leukocyte-derived DNA methylation markers acting as potential mediators of alcohol-associated EOC. We implemented a causal inference test (CIT) and the VanderWeele and Vansteelandt multiple mediator model to examine CpG sites that mediate the association between alcohol consumption and EOC risk. We modified one step of the CIT by adopting a high-dimensional inference procedure. The data were based on 196 cases and 202 age-matched controls from the Mayo Clinic Ovarian Cancer Case-Control Study. Implementation of the CIT test revealed two CpG sites (cg09358725, cg11016563), which represent potential mediators of the relationship between alcohol consumption and EOC case-control status. Implementation of the VanderWeele and Vansteelandt multiple mediator model further revealed that these two CpGs were the key mediators. Decreased methylation at both CpGs was more common in cases who drank alcohol at the time of enrollment vs. those who did not. cg11016563 resides in TRPC6 which has been previously shown to be overexpressed in EOC. These findings suggest two CpGs may serve as novel biomarkers for EOC susceptibility.

Symptomatology of recurrent low back pain in nursing and administrative professions

PubMed Central

Läubli, Thomas; Hodler, Juerg; Klipstein, Andreas

2007-01-01

The aim of the present study was to explore if (a) recurrent low back pain (LBP) has different symptomatologies in cases from occupations with predominantly sitting postures compared to cases from occupations involving dynamic postures and frequent lifting and (b) if in the two occupational groups, different factors were associated with the presence of recurrent LBP. Hundred and eleven female subjects aged between 45 and 62 years with a long-standing occupation either in administrative or nursing professions, with and without recurrent LBP were examined. An extensive evaluation of six areas of interest (pain and disability, clinical examination, functional tests, MR examination, physical and psychosocial workplace factors) was performed. The variables from the six areas of interest were analyzed for their potential to discriminate between the four groups of subjects (administrative worker and nurses with and without recurrent LBP) by canonical discriminant analysis. As expected, the self-evaluation of physical and psychosocial workplace factors showed significant differences between the two occupational groups, which holds true for cases as well as for controls (P < 0.01). The functional tests revealed a tendency for rather good capacity in nurses with LBP and a decreased capacity in administrative personnel with LBP (P = 0.049). Neither self completed pain and disability questionnaires nor clinical examination or MR imaging revealed any significant difference between LBP cases from sedentary and non-sedentary occupations. When comparing LBP cases and controls within the two occupational groups, the functional tests revealed significant differences (P = 0.0001) yet only in administrative personnel. The clinical examination on the other hand only discriminated between LBP cases and controls in the nurses group (P < 0.0001). Neither MRI imaging nor self reported physical and psychosocial workplace factors discriminated between LBP cases and controls from both occupational groups. Although we used a battery of tests that have broad application in clinical and epidemiological studies of LBP, a clear difference in the pattern of symptoms between LBP cases from nursing and hospital administration personnel could not be ascertained. We conclude that there is no evidence for different mechanisms leading to non-specific, recurrent LBP in the two occupations, and thus no generalizable recommendations for the prevention and therapy of non-specific LBP in the two professions can be given. PMID:17611784

An Outbreak of Cryptosporidium parvum across England & Scotland Associated with Consumption of Fresh Pre-Cut Salad Leaves, May 2012

PubMed Central

McKerr, Caoimhe; Adak, Goutam K.; Nichols, Gordon; Gorton, Russell; Chalmers, Rachel M.; Kafatos, George; Cosford, Paul; Charlett, Andre; Reacher, Mark; Pollock, Kevin G.; Alexander, Claire L.; Morton, Stephen

2015-01-01

Background We report a widespread foodborne outbreak of Cryptosporidium parvum in England and Scotland in May 2012. Cases were more common in female adults, and had no history of foreign travel. Over 300 excess cases were identified during the period of the outbreak. Speciation and microbiological typing revealed the outbreak strain to be C. parvum gp60 subtype IIaA15G2R1. Methods Hypothesis generation questionnaires were administered and an unmatched case control study was undertaken to test the hypotheses raised. Cases and controls were interviewed by telephone. Controls were selected using sequential digit dialling. Information was gathered on demographics, foods consumed and retailers where foods were purchased. Results Seventy-four laboratory confirmed cases and 74 controls were included in analyses. Infection was found to be strongly associated with the consumption of pre-cut mixed salad leaves sold by a single retailer. This is the largest documented outbreak of cryptosporidiosis attributed to a food vehicle. PMID:26017538

An Outbreak of Cryptosporidium parvum across England & Scotland Associated with Consumption of Fresh Pre-Cut Salad Leaves, May 2012.

PubMed

McKerr, Caoimhe; Adak, Goutam K; Nichols, Gordon; Gorton, Russell; Chalmers, Rachel M; Kafatos, George; Cosford, Paul; Charlett, Andre; Reacher, Mark; Pollock, Kevin G; Alexander, Claire L; Morton, Stephen

2015-01-01

We report a widespread foodborne outbreak of Cryptosporidium parvum in England and Scotland in May 2012. Cases were more common in female adults, and had no history of foreign travel. Over 300 excess cases were identified during the period of the outbreak. Speciation and microbiological typing revealed the outbreak strain to be C. parvum gp60 subtype IIaA15G2R1. Hypothesis generation questionnaires were administered and an unmatched case control study was undertaken to test the hypotheses raised. Cases and controls were interviewed by telephone. Controls were selected using sequential digit dialling. Information was gathered on demographics, foods consumed and retailers where foods were purchased. Seventy-four laboratory confirmed cases and 74 controls were included in analyses. Infection was found to be strongly associated with the consumption of pre-cut mixed salad leaves sold by a single retailer. This is the largest documented outbreak of cryptosporidiosis attributed to a food vehicle.

Interaction between Maternal and Paternal SHMT1 C1420T Predisposes to Neural Tube Defects in the Fetus: Evidence from Case-Control and Family-Based Triad Approaches.

PubMed

K Rebekah, Prasoona; Tella, Sunitha; Buragadda, Srinadh; Tiruvatturu, Muni Kumari; Akka, Jyothy

2017-04-14

Neural tube defects (NTDs) are caused by the failure of neural tube formation which occurs during early embryonic development. NTDs are the most severe and leading cause of fetal mortality. Serine hydroxymethyl transferase (SHMT1) provides one-carbon units necessary for embryogenesis and defects in one-carbon production result in specific pathological conditions during pregnancy. The present study is aimed to evaluate the association of SHMT1 C1420T with NTD risk in the fetus using fetal, maternal and paternal groups by applying both case-control and family-based triad approaches. A total of 924 subjects including 124 NTD case-parent trios (n = 124 × 3 = 372) and 184 healthy control-parent trios (n = 184 × 3 = 552) from Telangana State, South India were analyzed. DNA from umbilical cord tissues and parental blood samples were extracted, and genotyped by polymerase chain reaction-restriction fragment length polymorphism. Statistical analysis used were SPSS, parent-of-origin effect (POE) analysis. Case-control study design demonstrated fetuses with homozygous variant genotype (TT) to be at risk toward spina bifida subtype (p = 0.022). Among parents, fathers with TT genotype were associated with anencephaly (p = 0.018) and spina bifida subtypes (p = 0.027) in the offspring. Of interest, maternal-paternal-offspring genotype incompatibility revealed maternal CT genotype in combination with paternal TT genotype increased risk for NTDs in the fetus (CTxTT = TT; p = 0.021). Family-based parent-of-origin effect linkage analysis revealed significant maternal over-transmission of variant allele to NTD fetuses (p < 0.01). The present study, using both case-control and family-based triad approach is the first report to demonstrate parental association of SHMT1 C1420T variant in conferring NTD risk in the fetus. Birth Defects Research, 2017. © 2017 Wiley Periodicals, Inc. © 2017 Wiley Periodicals, Inc.

Interaction between Maternal and Paternal SHMT1 C1420T Predisposes to Neural Tube Defects in the Fetus: Evidence from Case-Control and Family-Based Triad Approaches.

PubMed

K Rebekah, Prasoona; Tella, Sunitha; Buragadda, Srinadh; Tiruvatturu, Muni Kumari; Akka, Jyothy

2017-07-17

Neural tube defects (NTDs) are caused by the failure of neural tube formation which occurs during early embryonic development. NTDs are the most severe and leading cause of fetal mortality. Serine hydroxymethyl transferase (SHMT1) provides one-carbon units necessary for embryogenesis and defects in one-carbon production result in specific pathological conditions during pregnancy. The present study is aimed to evaluate the association of SHMT1 C1420T with NTD risk in the fetus using fetal, maternal and paternal groups by applying both case-control and family-based triad approaches. A total of 924 subjects including 124 NTD case-parent trios (n = 124 × 3 = 372) and 184 healthy control-parent trios (n = 184 × 3 = 552) from Telangana State, South India were analyzed. DNA from umbilical cord tissues and parental blood samples were extracted, and genotyped by polymerase chain reaction-restriction fragment length polymorphism. Statistical analysis used were SPSS, parent-of-origin effect (POE) analysis. Case-control study design demonstrated fetuses with homozygous variant genotype (TT) to be at risk toward spina bifida subtype (p = 0.022). Among parents, fathers with TT genotype were associated with anencephaly (p = 0.018) and spina bifida subtypes (p = 0.027) in the offspring. Of interest, maternal-paternal-offspring genotype incompatibility revealed maternal CT genotype in combination with paternal TT genotype increased risk for NTDs in the fetus (CTxTT = TT; p = 0.021). Family-based parent-of-origin effect linkage analysis revealed significant maternal over-transmission of variant allele to NTD fetuses (p < 0.01). The present study, using both case-control and family-based triad approach is the first report to demonstrate parental association of SHMT1 C1420T variant in conferring NTD risk in the fetus. Birth Defects Research 109:1020-1029, 2017. © 2017 Wiley Periodicals, Inc. © 2017 Wiley Periodicals, Inc.

Meta-analysis in more than 17,900 cases of ischemic stroke reveals a novel association at 12q24.12.

PubMed

Kilarski, Laura L; Achterberg, Sefanja; Devan, William J; Traylor, Matthew; Malik, Rainer; Lindgren, Arne; Pare, Guillame; Sharma, Pankaj; Slowik, Agniesczka; Thijs, Vincent; Walters, Matthew; Worrall, Bradford B; Sale, Michele M; Algra, Ale; Kappelle, L Jaap; Wijmenga, Cisca; Norrving, Bo; Sandling, Johanna K; Rönnblom, Lars; Goris, An; Franke, Andre; Sudlow, Cathie; Rothwell, Peter M; Levi, Christopher; Holliday, Elizabeth G; Fornage, Myriam; Psaty, Bruce; Gretarsdottir, Solveig; Thorsteinsdottir, Unnar; Seshadri, Sudha; Mitchell, Braxton D; Kittner, Steven; Clarke, Robert; Hopewell, Jemma C; Bis, Joshua C; Boncoraglio, Giorgio B; Meschia, James; Ikram, M Arfan; Hansen, Bjorn M; Montaner, Joan; Thorleifsson, Gudmar; Stefanson, Kari; Rosand, Jonathan; de Bakker, Paul I W; Farrall, Martin; Dichgans, Martin; Markus, Hugh S; Bevan, Steve

2014-08-19

To perform a genome-wide association study (GWAS) using the Immunochip array in 3,420 cases of ischemic stroke and 6,821 controls, followed by a meta-analysis with data from more than 14,000 additional ischemic stroke cases. Using the Immunochip, we genotyped 3,420 ischemic stroke cases and 6,821 controls. After imputation we meta-analyzed the results with imputed GWAS data from 3,548 cases and 5,972 controls recruited from the ischemic stroke WTCCC2 study, and with summary statistics from a further 8,480 cases and 56,032 controls in the METASTROKE consortium. A final in silico "look-up" of 2 single nucleotide polymorphisms in 2,522 cases and 1,899 controls was performed. Associations were also examined in 1,088 cases with intracerebral hemorrhage and 1,102 controls. In an overall analysis of 17,970 cases of ischemic stroke and 70,764 controls, we identified a novel association on chromosome 12q24 (rs10744777, odds ratio [OR] 1.10 [1.07-1.13], p = 7.12 × 10(-11)) with ischemic stroke. The association was with all ischemic stroke rather than an individual stroke subtype, with similar effect sizes seen in different stroke subtypes. There was no association with intracerebral hemorrhage (OR 1.03 [0.90-1.17], p = 0.695). Our results show, for the first time, a genetic risk locus associated with ischemic stroke as a whole, rather than in a subtype-specific manner. This finding was not associated with intracerebral hemorrhage. © 2014 American Academy of Neurology.

Impact of Abdominal Adipose Depots and Race on Risk for Colorectal Cancer: A Case-Control Study

PubMed Central

Gomez-Perez, Sandra L; Chaudhry, Vivek; Mar, Winnie; Patel, Bimal; Fantuzzi, Giamila; Freels, Sally; Braunschweig, Carol

2017-01-01

Visceral (VAT) but not subcutaneous adipose tissue (SAT) is associated with obesity-related diseases including colorectal cancer (CRC). Superficial SAT (SSAT) and deep SAT (DSAT), components of SAT, also appear to independently influence disease risk. These abdominal adipose tissues (AAT) are not extensively studied in connection with CRC and have not been explored in the United States (US) despite known racial variations in body composition. We conducted a case-control study that compared associations between AAT with CRC risk and race of AA and NHW males with incident CRC matched by age, BMI and race (N=158, 79/group). Cross-sectional computed tomography (CT) images were used for assessment of AAT. Overall cases and controls had similar VAT areas (140±192 vs 149±152 cm2, p-value=0.93), however cases had lower SSAT than controls (88±39 vs 112±65 cm2, p<0.01). Among controls, AA had significantly lower VAT (114±168 vs 180±167, p<0.01) than NHW. Conditional logistic regression revealed AA males with greater SSAT had lower odds for CRC (OR: 0.24, 95%CI 0.07–0.85). Our findings indicate VAT does vary between cases and controls by race, however this variation is not a risk factor for CRC. The negative association between CRC and SSAT in AA men warrants further investigation. PMID:28323443

Neuromuscular assessment in elderly workers with and without work related shoulder/neck trouble: the NEW-study design and physiological findings.

PubMed

Sjøgaard, G; Søgaard, K; Hermens, H J; Sandsjö, L; Läubli, T; Thorn, S; Vollenbroek-Hutten, M M R; Sell, L; Christensen, H; Klipstein, A; Kadefors, R; Merletti, R

2006-01-01

Musculoskeletal disorders in the neck and shoulder area are a major occupational concern in the European countries especially among elderly females. The aim was to assess these disorders based on quantitative EMG indicators and functional tests. 252 female computer users (45-68 years) were recruited from four European countries in two contrast groups: (1) 88 neck/shoulder (NS) cases reporting trouble in the neck and/or shoulder region for more than 30 days during the last year, and (2) 164 NS-controls reporting such trouble for no more than 7 days. Questionnaires, functional/clinical tests, and physiological recordings were performed in workplace related field studies. The results showed no differences in anthropometrics but NS-cases reported more strained head positions and more eye problems than controls. The psychosocial working factors were similar, although, NS-controls had slightly better scores on working conditions, general health, and vitality compared to cases. The NS-cases had lower maximal voluntary contraction (MVC) during shoulder elevation (mean (SD) 310 (122) N) compared to the controls (364 (122) N). During 30% MVC electromyography (EMGrms) in the trapezius muscle was lower in NS-cases (194 (105) muV) than in controls (256 (169) muV), while no differences were found regarding endurance time. Estimated conduction velocity was not different between NS-cases and -controls. Four functional computer tests were performed equally well by NS-cases and -controls, and the corresponding EMG variables also did not differ. A major finding in this large-scale epidemiological study is the significantly lower MVC in NS-cases compared with NS-controls together with lower EMGrms value at 30% MVC, while computer tasks were performed at similar relative muscle activation. The study was unable to reveal quantitative EMG indicators and functional tests that could objectively assess disorders in NS-cases.

Risk of intracerebral hemorrhage associated with phenprocoumon exposure: a nested case-control study in a large population-based German database.

PubMed

Behr, Sigrid; Andersohn, Frank; Garbe, Edeltraut

2010-07-01

Intracerebral hemorrhage (ICH) is the most serious complication of oral anticoagulation. This study investigated the risk of ICH for phenprocoumon which is the most widely used oral anticoagulant in Germany. We conducted a nested case-control study in a cohort of 13.4 million insurants of 4 German statutory health insurances (SHIs) who were continuously enrolled for 6 months prior to cohort entry. Cases were patients hospitalized for ICH. Ten controls were matched to each case by SHI, birth year, and sex using incidence density sampling. Rate ratios (RR) of ICH for current phenprocoumon use as compared to non-use were estimated from odds ratios calculated by conditional logistic regression analyses considering multiple risk factors. Analysis of the full cohort revealed a strong increase in incidence of ICH with increasing age. In the nested case-control study including 8138 cases of ICH and 81,373 matched controls, we observed an increased risk of ICH for current phenprocoumon exposure that varied with age. The phenprocoumon-associated risk of ICH was lower in older age groups with RRs from 4.20 (95% confidence interval (CI) 2.44-7.21) for phenprocoumon users less than 55 years of age to 2.43 (95%CI, 1.81-3.27) for those older than 85 years. Our study confirmed known risk factors of ICH. Phenprocoumon exposure was associated with an increased risk of ICH. The interaction of risk for phenprocoumon with age was unexpected and needs further study. (c) 2010 John Wiley & Sons, Ltd.

Common Bile Duct (CBD) diameter in opium-addicted men: Comparison with non-addict controls.

PubMed

Zahedi-Nejad, Nina; Narouei, Shahin; Fahimy, Farnaz

2010-07-01

Opium and its derivatives are widely abused throughout the world. Recent case reports and a few limited studies have suggested that opiates cause dilation of the common bile duct of the abusers. Our case-control study, lasting 7.5 months, investigated 121 male adult addicts and 142 non-addicted controls for biliary tract diameters, using ultrasonography. The study was conducted in Bahonar Hospital in Kerman. Neither the addiction cases nor the non-addict controls revealed any hepatobiliary tract symptoms. The subjects were asked to fill in a questionnaire. After the exclusion of the symptomatic cases, ultrasound examinations were carried out and the findings from questionnaires and US examinations were recorded. The mean ±SD diameter of the common bile duct was 4.78±2.58 for addicts and 3.37±2.25 for non-addicts. CBD wall thickness was 1.969±0.61 mm in addicts versus 1.73±0.631 in non-addicts. The differences were statistically significant. According to the multivariate analysis, the duration of opium abuse was a significant factor. We concluded that CBD dilation and increased CBD wall thickness can be expected in people with a prolonged history of opiate addiction.

Mitochondrial dysfunction in Gulf War illness revealed by 31Phosphorus Magnetic Resonance Spectroscopy: a case-control study.

PubMed

Koslik, Hayley J; Hamilton, Gavin; Golomb, Beatrice A

2014-01-01

Approximately 1/3 of 1990-1 Gulf War veterans developed chronic multisymptom health problems. Implicated exposures bear mechanisms that adversely affect mitochondria. Symptoms emphasize fatigue, cognition and muscle (brain and muscle are aerobically demanding); with protean additional domains affected, compatible with mitochondrial impairment. Recent evidence supports treatments targeting cell bioenergetics (coenzyme10) to benefit Gulf War illness symptoms. However, no evidence has directly documented mitochondrial or bioenergetic impairment in Gulf War illness. We sought to objectively assess for mitochondrial dysfunction, examining post-exercise phosphocreatine-recovery time constant (PCr-R) using (31)Phosphorus Magnetic Resonance Spectroscopy ((31)P-MRS), in Gulf War veterans with Gulf War illness compared to matched healthy controls. PCr-R has been described as a "robust and practical" index of mitochondrial status. Case-control study from 2012-2013. Fourteen community-dwelling Gulf War veterans and matched controls from the San Diego area comprised 7 men meeting CDC and Kansas criteria for Gulf War illness, and 7 non-deployed healthy controls matched 1:1 to cases on age, sex, and ethnicity. Calf muscle phosphocreatine was evaluated by (31)P-MRS at rest, through 5 minutes of foot pedal depression exercise, and in recovery, to assess PCr-R. Paired t-tests compared cases to matched controls. PCr-R was significantly prolonged in Gulf War illness cases vs their matched controls: control values, mean ± SD, 29.0 ± 8.7 seconds; case values 46.1 ± 18.0 seconds; difference 17.1 ± 14.9 seconds; p = 0.023. PCr-R was longer for cases relative to their matched controls for all but one pair; moreover while values clustered under 31 seconds for all but one control, they exceeded 35 seconds (with a spread up to 70 seconds) for all but one case. These data provide the first direct evidence supporting mitochondrial dysfunction in Gulf War illness. Findings merit replication in a larger study and/or corroboration with additional mitochondrial assessment tools.

Two Birds With One Stone: Estimating Population Vaccination Coverage From a Test-negative Vaccine Effectiveness Case-control Study.

PubMed

Doll, Margaret K; Morrison, Kathryn T; Buckeridge, David L; Quach, Caroline

2016-10-15

Vaccination program evaluation includes assessment of vaccine uptake and direct vaccine effectiveness (VE). Often examined separately, we propose a design to estimate rotavirus vaccination coverage using controls from a rotavirus VE test-negative case-control study and to examine coverage following implementation of the Quebec, Canada, rotavirus vaccination program. We present our assumptions for using these data as a proxy for coverage in the general population, explore effects of diagnostic accuracy on coverage estimates via simulations, and validate estimates with an external source. We found 79.0% (95% confidence interval, 74.3%, 83.0%) ≥2-dose rotavirus coverage among participants eligible for publicly funded vaccination. No differences were detected between study and external coverage estimates. Simulations revealed minimal bias in estimates with high diagnostic sensitivity and specificity. We conclude that controls from a VE case-control study may be a valuable resource of coverage information when reasonable assumptions can be made for estimate generalizability; high rotavirus coverage demonstrates success of the Quebec program. © The Author 2016. Published by Oxford University Press for the Infectious Diseases Society of America. All rights reserved. For permissions, e-mail journals.permissions@oup.com.

Excessive sleep need following traumatic brain injury: a case-control study of 36 patients.

PubMed

Sommerauer, Michael; Valko, Philipp O; Werth, Esther; Baumann, Christian R

2013-12-01

Increased sleep need following traumatic brain injury, referred to in this study as post-traumatic pleiosomnia, is common, but so far its clinical impact and therapeutic implications have not been characterized. We present a case-control study of 36 patients with post-traumatic pleiosomnia, defined by an increased sleep need of at least 2 h per 24 h after traumatic brain injury, compared to 36 controls. We assessed detailed history, sleep-activity patterns with sleep logs and actigraphy, nocturnal sleep with polysomnography and daytime sleep propensity with multiple sleep latency tests. Actigraphy recordings revealed that traumatic brain injury (TBI) patients had longer estimated sleep durations than controls (10.8 h per 24 h, compared to 7.3 h). When using sleep logs, TBI patients underestimated their sleep need. During nocturnal sleep, patients had higher amounts of slow-wave sleep than controls (20 versus 13.8%). Multiple sleep latency tests revealed excessive daytime sleepiness in 15 patients (42%), and 10 of them had signs of chronic sleep deprivation. We conclude that post-traumatic pleiosomnia may be even more frequent than reported previously, because affected patients often underestimate their actual sleep need. Furthermore, these patients exhibit an increase in slow-wave sleep which may reflect recovery mechanisms, intrinsic consequences of diffuse brain damage or relative sleep deprivation. © 2013 European Sleep Research Society.

Three ADIPOR1 Polymorphisms and Cancer Risk: A Meta-Analysis of Case-Control Studies.

PubMed

Ye, Jiaxiang; Jiang, Li; Wu, Changliang; Liu, Aiqun; Mao, Sufei; Ge, Lianying

2015-01-01

Studies have come to conflicting conclusions about whether polymorphisms in the adiponectin receptor 1 gene (ADIPOR1) are associated with cancer risk. To help resolve this question, we meta-analyzed case-control studies in the literature. PubMed, EMBASE, Cochrane Library, the Chinese Biological Medical Database and the Chinese National Knowledge Infrastructure Database were systematically searched to identify all case-control studies published through February 2015 examining any ADIPOR1 polymorphisms and risk of any type of cancer. Pooled odds ratios (ORs) and corresponding 95% confidence intervals (CIs) were calculated. A total of 13 case-control studies involving 5,750 cases and 6,762 controls were analyzed. Analysis of the entire study population revealed a significant association between rs1342387(G/A) and overall cancer risk using a homozygous model (OR 0.82, 95%CI 0.72 to 0.94), heterozygous model (OR 0.84, 95%CI 0.76 to 0.93), dominant model (OR 0.85, 95%CI 0.75 to 0.97) and allele contrast model (OR 0.88, 95%CI 0.80 to 0.97). However, subgroup analysis showed that this association was significant only for Asians in the case of colorectal cancer. No significant associations were found between rs12733285(C/T) or rs7539542(C/G) and cancer risk, either in analyses of the entire study population or in analyses of subgroups. Our meta-analysis suggests that the ADIPOR1 rs1342387(G/A) polymorphism, but not rs12733285(C/T) or rs7539542(C/G), may be associated with cancer risk, especially risk of colorectal cancer in Asians. Large, well-designed studies are needed to verify our findings.

Contact screening and chemoprophylaxis in India's Revised Tuberculosis Control Programme: a situational analysis.

PubMed

Banu Rekha, V V; Jagarajamma, K; Wares, F; Chandrasekaran, V; Swaminathan, S

2009-12-01

India's Revised National Tuberculosis Control Programme (RNTCP) recommends screening of all household contacts of smear-positive pulmonary tuberculosis (PTB) cases for tuberculosis (TB) disease, and 6-month isoniazid preventive therapy (IPT) for asymptomatic children aged <6 years. To assess the implementation of child contact screening and IPT administration under the RNTCP. A cross-sectional study conducted in four randomly selected TB units (TUs), two in an urban (Chennai City) and two in a rural (Vellore District) area of Tamil Nadu, South India, from July to September 2008. The study involved the perusal of TB treatment cards of source cases (new or retreatment smear-positive PTB patients started on treatment), interview of source cases and focus group discussions (FGDs) among health care workers. Interviews of 253 PTB patients revealed that of 220 contacts aged <14 years, only 31 (14%) had been screened for TB, and that of 84 household children aged <6 years, only 16 (19%) had been initiated on IPT. The treatment cards of source cases lacked documentation of contact details. FGDs revealed greater TB awareness among urban health care workers, but a lack of detailed knowledge about procedures. Provision for documentation using a separate IPT card and focused training may help improve the implementation of contact screening and IPT.

Effects of Electronic Nicotine Delivery System on Larynx: Experimental Study.

PubMed

Salturk, Ziya; Çakır, Çağlar; Sünnetçi, Gürcan; Atar, Yavuz; Kumral, Tolgar Lütfi; Yıldırım, Güven; Berkiten, Güler; Uyar, Yavuz

2015-09-01

We aimed to assess the effects of electronic nicotine delivery system (ENDS) or also termed electronic cigarette vapor on the laryngeal mucosa of rats. Sixteen female Wistar albino rats were divided into two groups. The study group was exposed to ENDS vapor for 1 hour/day for 4 weeks. The control group was not subjected to any chemical or physical stimulus. The vocal folds of the study and control group rats were evaluated histopathologically by hematoxylin and eosin staining and immunohistochemically by Ki67 staining. Epithelial distribution, inflammation, hyperplasia, and metaplasia were evaluated. Epithelial distribution and inflammation did not differ between the two groups. Two cases of hyperplasia were detected in the study group but there was no hyperplasia in the control group. Four cases of metaplasia were detected in the study group and one case in the control group. Statistical analysis revealed no significant difference between the study and control groups (P = 0.131 and 0.106, respectively). Exposure to ENDS for 4 weeks caused hyperplasia and metaplasia of the laryngeal mucosa of rats but this was not significant statistically. These results implemented that further studies with larger cohort and longer duration are required to evaluate long-term effects. Copyright © 2015 The Voice Foundation. Published by Elsevier Inc. All rights reserved.

Microbiological evaluation of chronic blepharitis among Iranian veterans exposed to mustard gas: a case-controlled study.

PubMed

Karimian, Farid; Zarei-Ghanavati, Siamak; A, Baradaran-Rafii; Jadidi, Khosrow; Lotfi-Kian, Alireza

2011-06-01

To evaluate the microbiological characteristics of eyelid margin flora in chronic blepharitis in mustard gas-exposed individuals and compare the results with those in age- and sex-matched unexposed people. In this comparative case series, 289 patients with ocular manifestations of mustard gas exposure (case) were evaluated for signs of chronic blepharitis. Additionally, microbiological evaluation of eyelid margins was conducted in these patients and compared with results of 100 unexposed patients with chronic blepharitis (control). One-hundred fifty (52.0%) of 289 mustard gas casualties had signs of chronic blepharitis. Microbiological evaluation revealed higher isolation rates of Staphylococcus epidermidis (78%) and Staphylococcus aureus (57%) in the case in comparison to control group (P < 0.01). Moreover, S. aureus isolated from the cases exhibited greater resistance to common antibiotics compared with control group. Fungi were isolated more frequent in the case compared with controls (30% vs. 4%, P < 0.01), with Cladosporium and Candida species being most common in the case group. Exposure to mustard gas seems to alter the microbiological flora of the eyelid margin. Staphylococcus spp., including antibiotic-resistant strains, and fungi were more frequently isolated in these patients. The relationship between microbial culture results and the severity of ocular surface manifestations in mustard gas-injured cases warrant further investigation.

Whole genome sequencing reveals an outbreak of Salmonella Enteritidis associated with reptile feeder mice in the United Kingdom, 2012-2015.

PubMed

Kanagarajah, Sanch; Waldram, Alison; Dolan, Gayle; Jenkins, Claire; Ashton, Philip M; Carrion Martin, Antonio Isidro; Davies, Robert; Frost, Andrew; Dallman, Timothy J; De Pinna, Elizabeth M; Hawker, Jeremy I; Grant, Kathie A; Elson, Richard

2018-05-01

Analysis of whole genome sequencing data uncovered a previously undetected outbreak of Salmonella Enteritidis that had been on-going for four years. Cases were resident in all countries of the United Kingdom and 40% of the cases were aged less than 11 years old. Initial investigations revealed that 30% of cases reported exposure to pet snakes. A case-control study was designed to test the hypothesis that exposure to reptiles or their feed were risk factors. A robust case-definition, based on the single nucleotide polymorphism (SNP) profile, increased the power of the analytical study. Following univariable and multivariable analysis, exposure to snakes was the only variable independently associated with infection (Odds ratio 810 95% CI (85-7715) p < 0.001). Isolates of S. Enteritidis belonging to the outbreak profile were recovered from reptile feeder mice sampled at the retail and wholesale level. Control measures included improved public health messaging at point of sale, press releases and engagement with public health and veterinary counterparts across Europe. Mice destined to be fed to reptiles are not regarded as pet food and are not routinely tested for pathogenic bacteria. Routine microbiological testing to ensure feeder mice are free from Salmonella is recommended. Crown Copyright © 2017. Published by Elsevier Ltd. All rights reserved.

Influence of ROBO1 and RORA on risk of age-related macular degeneration reveals genetically distinct phenotypes in disease pathophysiology.

PubMed

Jun, Gyungah; Nicolaou, Michael; Morrison, Margaux A; Buros, Jacqueline; Morgan, Denise J; Radeke, Monte J; Yonekawa, Yoshihiro; Tsironi, Evangelia E; Kotoula, Maria G; Zacharaki, Fani; Mollema, Nissa; Yuan, Yang; Miller, Joan W; Haider, Neena B; Hageman, Gregory S; Kim, Ivana K; Schaumberg, Debra A; Farrer, Lindsay A; DeAngelis, Margaret M

2011-01-01

ROBO1 is a strong candidate gene for age-related macular degeneration (AMD) based upon its location under a linkage peak on chromosome 3p12, its expression pattern, and its purported function in a pathway that includes RORA, a gene previously associated with risk for neovascular AMD. Previously, we observed that expression of ROBO1 and RORA is down-regulated among wet AMD cases, as compared to their unaffected siblings. Thus, we hypothesized that contribution of association signals in ROBO1, and interaction between these two genes may be important for both wet and dry AMD. We evaluated association of 19 single nucleotide polymorphisms (SNPs) in ROBO1 with wet and dry stages of AMD in a sibling cohort and a Greek case-control cohort containing 491 wet AMD cases, 174 dry AMD cases and 411 controls. Association signals and interaction results were replicated in an independent prospective cohort (1070 controls, 164 wet AMD cases, 293 dry AMD cases). The most significantly associated ROBO1 SNPs were rs1387665 under an additive model (meta P = 0.028) for wet AMD and rs9309833 under a recessive model (meta P = 6 × 10(-4)) for dry AMD. Further analyses revealed interaction between ROBO1 rs9309833 and RORA rs8034864 for both wet and dry AMD (interaction P<0.05). These studies were further supported by whole transcriptome expression profile studies from 66 human donor eyes and chromatin immunoprecipitation assays from mouse retinas. These findings suggest that distinct ROBO1 variants may influence the risk of wet and dry AMD, and the effects of ROBO1 on AMD risk may be modulated by RORA variants.

Red and processed meat consumption and risk of glioma in adults: A systematic review and meta-analysis of observational studies

PubMed Central

Saneei, Parvane; Willett, Walter; Esmaillzadeh, Ahmad

2015-01-01

Background: These findings from several observational studies, investigated the association between red meat consumption and gliomas, were inconsistent. We conducted a systematic review and meta-analysis of observational studies to summarize available date on the relation between meat intake and risk of glioma. Materials and Methods: A systematic literature search of relevant reports published until May 2014 of the PubMed/Medline, ISI Web of Knowledge, Excerpta Medica database, Ovid database, Google Scholar, and Scopus databases was conducted. From 723 articles yielded in the preliminary literature search, data from eighteen publications (14 case-control, three cohort, and one nested case-control study) on unprocessed red meat, processed meat, and/or total red meat consumption in relation to glioma in adults were included in the analysis. Quality assessment of studies was performed. Random effects model was used to conduct the meta-analysis. Results: We found a positive significant association between unprocessed red meat intake and risk of glioma (relative risk [RR] = 1.30; 95% confidence interval [CI]: 1.08-1.58) after excluding three studies with uncertain type of brain cancer. This analysis included only one cohort study which revealed no relation between unprocessed red meat intake and glioma (RR = 1.75; 95% CI: 0.35-8.77). Consumption of processed meats was not related to increased risk of glioma in population-based case-control studies (RR = 1.26; 95% CI: 1.05-1.51) and reduced risk in hospital-based case-controls (RR = 0.79; 95% CI: 0.65-0.97). No significant association was seen between processed red meat intake and risk of glioma in cohort studies (RR: 1.08; 95% CI: 0.84-1.37). Total red meat consumption was not associated with risk of adult glioma in case-control or cohort studies. Conclusion: In this meta-analysis of 18 observational studies, we found a modest positive association between unprocessed red meat intake and risk of gliomas based almost entirely on case-control studies. Processed red meat was overall not associated with risk of gliomas in case-control or cohort studies. PMID:26600837

Novel genes involved in severe early-onset obesity revealed by rare copy number and sequence variants

PubMed Central

Flores, Raquel; González, Juan R.; Argente, Jesús; Pérez-Jurado, Luis A.

2017-01-01

Obesity is a multifactorial disorder with high heritability (50–75%), which is probably higher in early-onset and severe cases. Although rare monogenic forms and several genes and regions of susceptibility, including copy number variants (CNVs), have been described, the genetic causes underlying the disease still remain largely unknown. We searched for rare CNVs (>100kb in size, altering genes and present in <1/2000 population controls) in 157 Spanish children with non-syndromic early-onset obesity (EOO: body mass index >3 standard deviations above the mean at <3 years of age) using SNP array molecular karyotypes. We then performed case control studies (480 EOO cases/480 non-obese controls) with the validated CNVs and rare sequence variants (RSVs) detected by targeted resequencing of selected CNV genes (n = 14), and also studied the inheritance patterns in available first-degree relatives. A higher burden of gain-type CNVs was detected in EOO cases versus controls (OR = 1.71, p-value = 0.0358). In addition to a gain of the NPY gene in a familial case with EOO and attention deficit hyperactivity disorder, likely pathogenic CNVs included gains of glutamate receptors (GRIK1, GRM7) and the X-linked gastrin-peptide receptor (GRPR), all inherited from obese parents. Putatively functional RSVs absent in controls were also identified in EOO cases at NPY, GRIK1 and GRPR. A patient with a heterozygous deletion disrupting two contiguous and related genes, SLCO4C1 and SLCO6A1, also had a missense RSV at SLCO4C1 on the other allele, suggestive of a recessive model. The genes identified showed a clear enrichment of shared co-expression partners with known genes strongly related to obesity, reinforcing their role in the pathophysiology of the disease. Our data reveal a higher burden of rare CNVs and RSVs in several related genes in patients with EOO compared to controls, and implicate NPY, GRPR, two glutamate receptors and SLCO4C1 in highly penetrant forms of familial obesity. PMID:28489853

Novel genes involved in severe early-onset obesity revealed by rare copy number and sequence variants.

PubMed

Serra-Juhé, Clara; Martos-Moreno, Gabriel Á; Bou de Pieri, Francesc; Flores, Raquel; González, Juan R; Rodríguez-Santiago, Benjamín; Argente, Jesús; Pérez-Jurado, Luis A

2017-05-01

Obesity is a multifactorial disorder with high heritability (50-75%), which is probably higher in early-onset and severe cases. Although rare monogenic forms and several genes and regions of susceptibility, including copy number variants (CNVs), have been described, the genetic causes underlying the disease still remain largely unknown. We searched for rare CNVs (>100kb in size, altering genes and present in <1/2000 population controls) in 157 Spanish children with non-syndromic early-onset obesity (EOO: body mass index >3 standard deviations above the mean at <3 years of age) using SNP array molecular karyotypes. We then performed case control studies (480 EOO cases/480 non-obese controls) with the validated CNVs and rare sequence variants (RSVs) detected by targeted resequencing of selected CNV genes (n = 14), and also studied the inheritance patterns in available first-degree relatives. A higher burden of gain-type CNVs was detected in EOO cases versus controls (OR = 1.71, p-value = 0.0358). In addition to a gain of the NPY gene in a familial case with EOO and attention deficit hyperactivity disorder, likely pathogenic CNVs included gains of glutamate receptors (GRIK1, GRM7) and the X-linked gastrin-peptide receptor (GRPR), all inherited from obese parents. Putatively functional RSVs absent in controls were also identified in EOO cases at NPY, GRIK1 and GRPR. A patient with a heterozygous deletion disrupting two contiguous and related genes, SLCO4C1 and SLCO6A1, also had a missense RSV at SLCO4C1 on the other allele, suggestive of a recessive model. The genes identified showed a clear enrichment of shared co-expression partners with known genes strongly related to obesity, reinforcing their role in the pathophysiology of the disease. Our data reveal a higher burden of rare CNVs and RSVs in several related genes in patients with EOO compared to controls, and implicate NPY, GRPR, two glutamate receptors and SLCO4C1 in highly penetrant forms of familial obesity.

High Spicy Food Intake and Risk of Cancer: A Meta-analysis of Case-control Studies.

PubMed

Chen, Yu-Heng; Zou, Xiao-Nong; Zheng, Tong-Zhang; Zhou, Qi; Qiu, Hui; Chen, Yuan-Li; He, Mei; Du, Jia; Lei, Hai-Ke; Zhao, Ping

2017-09-20

Studies on the association between spicy food intake and cancer risk have reported inconsistent results. We quantitatively assessed this association by conducting a meta-analysis based on evidence from case-control studies. PubMed, EMBASE, and the Cochrane Library were searched for eligible publications. Combined odds ratios (OR s) with their 95% confidence interval (CI) were calculated using a random- or fixed-effects model. The methodological quality of the included articles was assessed using the Newcastle-Ottawa scale (NOS). All data were analyzed using STATA 11.0 software (version 11.0; StataCorp., College Station, TX, USA). Subgroup analyses were also performed with stratification by region, sex, number of cases, cancer subtype, source of the control group, and NOS score. A total 39 studies from 28 articles fulfilled the inclusion criteria for the meta-analysis (7884 patients with cancer and 10,142 controls). Comparison of the highest versus lowest exposure category in each study revealed a significant OR of 1.76 (95% CI = 1.35-2.29) in spite of significant heterogeneity (P < 0.001). In the subgroup analyses, this positive correlation was still found for gastric cancer, different regions, different numbers of cases, different sources of the control group, and high-quality articles (NOS score of ≥ 7). However, no statistically significant association was observed for women, esophageal cancer, gallbladder cancer, or low-quality articles (NOS score of <7). No evidence of publication bias was found. Evidence from case-control studies suggested that a higher level of spicy food intake may be associated with an increased incidence of cancer despite significant heterogeneity. More studies are warranted to clarify our understanding of the association between high spicy food intake and the risk of cancer.

Whole-exome sequencing reveals genetic variants associated with chronic kidney disease characterized by tubulointerstitial damages in North Central Region, Sri Lanka.

PubMed

Nanayakkara, Shanika; Senevirathna, S T M L D; Parahitiyawa, Nipuna B; Abeysekera, Tilak; Chandrajith, Rohana; Ratnatunga, Neelakanthi; Hitomi, Toshiaki; Kobayashi, Hatasu; Harada, Kouji H; Koizumi, Akio

2015-09-01

The familial clustering observed in chronic kidney disease of uncertain etiology (CKDu) characterized by tubulointerstitial damages in the North Central Region of Sri Lanka strongly suggests the involvement of genetic factors in its pathogenesis. The objective of the present study is to use whole-exome sequencing to identify the genetic variants associated with CKDu. Whole-exome sequencing of eight CKDu cases and eight controls was performed, followed by direct sequencing of candidate loci in 301 CKDu cases and 276 controls. Association study revealed rs34970857 (c.658G > A/p.V220M) located in the KCNA10 gene encoding a voltage-gated K channel as the most promising SNP with the highest odds ratio of 1.74. Four rare variants were identified in gene encoding Laminin beta2 (LAMB2) which is known to cause congenital nephrotic syndrome. Three out of four variants in LAMB2 were novel variants found exclusively in cases. Genetic investigations provide strong evidence on the presence of genetic susceptibility for CKDu. Possibility of presence of several rare variants associated with CKDu in this population is also suggested.

The Autism‐Spectrum Quotient in Siblings of People With Autism

PubMed Central

Allison, Carrie; Smith, Paula; Ring, Howard; Auyeung, Bonnie; Baron‐Cohen, Simon

2016-01-01

This study measures the distribution of autistic traits, using the autism‐spectrum quotient (AQ), in siblings of individuals with autism spectrum conditions (ASC). Total AQ scores, along with AQ subscales, were collected from child, adolescent and adult controls, siblings, and volunteers with ASC using one of the three age‐appropriate versions of the instrument: the AQ (adult self‐report), the AQ‐adolescent and AQ‐child (both parent‐reports). We examined the effect of Group (case, sibling and control) and AQ version (adult, adolescent and adult) on total and subscale scores. In addition, we tested for sex differences in all groups and on all versions. We found that in male and female adults, AQ scores in siblings fell between cases and controls (cases > siblings > controls). In children and adolescents, female siblings also scored higher than control females (female cases > female siblings > female controls), but there was no difference between male siblings and controls (male cases > male siblings = male controls). An investigation of subscale scores revealed that male siblings only differed from controls on the “Communication” subscale (male cases > male siblings > male controls), while female siblings differed from controls on all subscales except “Imagination” (female cases > female siblings > female controls). This study confirms the broader autism phenotype in siblings, and reveals this is modulated by sex and AQ version. Autism Res 2017, 10: 289–297. © 2016 The Authors Autism Research published by Wiley Periodicals, Inc. on behalf of International Society for Autism Research. PMID:27333365

Neuropsychologic assessment of a population-based sample of Gulf War veterans.

PubMed

Wallin, Mitchell T; Wilken, Jeffrey; Alfaro, Mercedes H; Rogers, Catherine; Mahan, Clare; Chapman, Julie C; Fratto, Timothy; Sullivan, Cynthia; Kang, Han; Kane, Robert

2009-09-01

The objective of this project was to compare neuropsychologic performance and quality of life in a population-based sample of deployed Gulf War (GW) veterans with and without multisymptom complaints. The study participants were obtained from the 30,000 member population-based National Health Survey of GW-era veterans conducted in 1995. Cases (N=25) were deployed to the year 1990 and 1991 GW and met Center for Disease Control and Prevention criteria for multisymptom GW illness (GWI). Controls (N=16) were deployed to the 1990 and 1991 GW but did not meet Center for Disease Control and Prevention criteria for GWI. There were no significant differences in composite scores on the traditional and computerized neuropsychologic battery (automated neuropsychologic assessment metrics) between GW cases and controls using bivariate techniques. Multiple linear regression analyses controlling for demographic and clinical variables revealed composite automated neuropsychologic assessment metrics scores were associated with age (b=-7.8; P=0.084), and education (b=22.9; P=0.0012), but not GW case or control status (b=-63.9; P=0.22). Compared with controls, GW cases had significantly more impairment on the Personality Assessment Inventory and the short form-36. Compared with GW controls, GW cases meeting criteria for GWI had preserved cognition function but had significant psychiatric symptoms and lower quality of life.

Physical Examination for Men and Women With Urologic Chronic Pelvic Pain Syndrome: A MAPP (Multidisciplinary Approach to the Study of Chronic Pelvic Pain) Network Study.

PubMed

Yang, Claire C; Miller, Jane L; Omidpanah, Adam; Krieger, John N

2018-06-01

To examine the feasibility of implementing a standardized, clinically relevant genitourinary examination for both men and women, and to identify physical examination findings characteristic of urologic chronic pelvic pain syndrome (UCPPS). This study analyzed 2 samples: men and women with UCPPS who participated in the Multidisciplinary Approach to the Study of Chronic Pelvic Pain (MAPP) Research Network Epidemiology and Phenotyping (EP) Study, and age-matched controls who were either positive for chronic fatigue syndrome or healthy (pain-free). We compared physical examination findings in both positive and healthy controls with UCPPS cases: findings from both the EP examinations and from an extended genitourinary examination. EP and extended examinations were performed on 143 participants: 62 UCPPS cases (30 women, 32 men), 42 positive controls (15 women, 27 men), and 39 healthy controls (22 women, 17 men). EP examinations showed that pelvic floor tenderness was more prevalent in cases (55.0%) than in positive (14.6%) or healthy controls (10.5%). Extended examinations revealed specific areas of tenderness in the pelvic floor musculature. Cases were also more likely than healthy controls to report tenderness in multiple areas, including suprapubic, symphysis pubis, and posterior superior iliac spine, and on bimanual examination. No comparative findings were specific to biological sex, and no evidence of pudendal neuropathy was observed on extended examination of cases or controls. The extended genitourinary examination is an easily administered addition to the assessment of men and women during evaluation for UCPPS. Physical findings may help to better categorize patients with UCPPS into clinically relevant subgroups for optimal treatment. Published by Elsevier Inc.

The Association Between Neurocysticercosis and Hippocampal Atrophy is Related to Age

PubMed Central

Del Brutto, Oscar H.; Issa, Naoum P.; Salgado, Perla; Del Brutto, Victor J.; Zambrano, Mauricio; Lama, Julio; García, Héctor H.

2017-01-01

Neurocysticercosis (NCC) has been associated with hippocampal atrophy, but the prevalence and pathogenic mechanisms implicated in this relationship are unknown. Using a population-based, case–control study design, residents in a rural village (Atahualpa) aged ≥ 40 years with calcified NCC were identified as cases and paired to NCC-free individuals (control subjects) matched by age, sex, and level of education. Cases and control subjects underwent magnetic resonance imaging for hippocampal rating according to the Scheltens' scale for medial temporal atrophy and were interviewed to identify those with a clinical seizure disorder. The prevalence of hippocampal atrophy was compared between cases and control subjects by the use of the McNemar's test for correlated proportions. Seventy-five individuals with calcified NCC and their matched control subjects were included in the analysis. Hippocampal atrophy was noted in 26 (34.7%) cases and nine (12%) control subjects (odds ratio: 4.4; 95% confidence interval: 1.6–14.9, P < 0.0021). Stratification of pairs according to tertiles of age revealed an age-related trend in this association, which became significant only in those aged ≥ 68 years (P = 0.027). Only five cases and one control had recurrent seizures (P = 0.221); three of these five cases had hippocampal atrophy, and the single control subject had normal hippocampi. This study confirms an association between NCC and hippocampal atrophy, and shows that this association is stronger in older age groups. This suggests that NCC-related hippocampal atrophy takes a long time to develop. PMID:28077750

The genetics of folate metabolism and maternal risk of birth of a child with Down syndrome and associated congenital heart defects

PubMed Central

Coppedè, Fabio

2015-01-01

Almost 15 years ago it was hypothesized that polymorphisms of genes encoding enzymes involved in folate metabolism could lead to aberrant methylation of peri-centromeric regions of chromosome 21, favoring its abnormal segregation during maternal meiosis. Subsequently, more than 50 small case-control studies investigated whether or not maternal polymorphisms of folate pathway genes could be risk factors for the birth of a child with Down syndrome (DS), yielding conflicting and inconclusive results. However, recent meta-analyses of those studies suggest that at least three of those polymorphisms, namely MTHFR 677C>T, MTRR 66A>G, and RFC1 80G>A, are likely to act as maternal risk factors for the birth of a child with trisomy 21, revealing also complex gene-nutrient interactions. A large-cohort study also revealed that lack of maternal folic acid supplementation at peri-conception resulted in increased risk for a DS birth due to errors occurred at maternal meiosis II in the aging oocyte, and it was shown that the methylation status of chromosome 21 peri-centromeric regions could favor recombination errors during meiosis leading to its malsegregation. In this regard, two recent case-control studies revealed association of maternal polymorphisms or haplotypes of the DNMT3B gene, coding for an enzyme required for the regulation of DNA methylation at centromeric and peri-centromeric regions of human chromosomes, with risk of having a birth with DS. Furthermore, congenital heart defects (CHD) are found in almost a half of DS births, and increasing evidence points to a possible contribution of lack of folic acid supplementation at peri-conception, maternal polymorphisms of folate pathway genes, and resulting epigenetic modifications of several genes, at the basis of their occurrence. This review summarizes available case-control studies and literature meta-analyses in order to provide a critical and up to date overview of what we currently know in this field. PMID:26161087

Protective efficacy of BCG against leprosy in São Paulo.

PubMed

Lombardi, C; Pedrazzani, E S; Pedrazzani, J C; Filho, P F; Zicker, F

1996-03-01

The case-control study reported here evaluated the protective effect of BCG vaccine against leprosy in São Paulo, Brazil. Seventy-eight patients under age 16 who had been diagnosed as having leprosy (cases) and 385 healthy individuals (controls) were selected and matched by sex, age, place of residence, and type of exposure to leprosy (intradomiciliary or extradomiciliary). The cases were drawn from an active patient registry and from a group of new leprosy cases treated at 50 health centers in the cities of Bauru and Ribeirão Preto in the state of São Paulo. In order to estimate the protective effect of BCG, the prevalences of BCG scars in cases and controls were compared. The presence of one or more scars was associated with an estimated protective efficacy of 90% (95% confidence interval: 78% to 96%). Stratified analysis by age group, sex, socioeconomic level, and clinical form of the disease revealed no significant differences in the protection provided by the vaccine. However, it seems clear that more data will be needed in order to accurately assess the true relevance of BCG for leprosy control programs.

Prevalence of oral HPV infection among healthy individuals and head and neck cancer cases in the French West Indies.

PubMed

Auguste, Aviane; Gaëte, Stanie; Herrmann-Storck, Cécile; Michineau, Leah; Joachim, Clarisse; Deloumeaux, Jacqueline; Duflo, Suzy; Luce, Danièle

2017-11-01

Human papillomavirus (HPV) is known to play a role in the development of head and neck squamous cell carcinomas (HNSCC) and to date, no study has reported on the association between oral HPV infection and HNSCC in the Caribbean. The objective was to determine the prevalence of oral HPV infection in the French West Indies (FWI), overall and by HPV genotype, among HNSCC cases and healthy population controls. We used data from a population-based case-control study conducted in the FWI. The prevalence of oral HPV was estimated separately among 100 HNSCC cases (mean age 59 years) and 308 population controls (mean age 57 years). Odds ratios (OR) and 95% confidence intervals (CI) were estimated using a logistic regression adjusting for age, sex, tobacco, and alcohol consumption, to assess the association between oral HPV infection and HNSCC. Prevalence of oral HPV infections was 26% in controls (30% in men and 14% in women) and 36% in HNSCC cases (36% in men, 33% in women). HPV52 was the most commonly detected genotype, in cases and in controls. The prevalence of HPV16, HPV33, and HPV51 was significantly higher in cases than in controls (p = 0.0340, p = 0.0472, and 0.0144, respectively). Oral infection with high-risk HPV was associated with an increase in risk of HNSCC (OR 1.99, 95% CI 0.95-4.15). HPV16 was only associated with oropharyngeal cancer (OR 16.01, 95% CI 1.67-153.64). This study revealed a high prevalence of oral HPV infection in this middle-aged Afro-Caribbean population, and a specific distribution of HPV genotypes. These findings may provide insight into HNSCC etiology specific to the FWI.

The 5-HTTLPR confers susceptibility to anorexia nervosa in Han Chinese: evidence from a case-control and family-based study.

PubMed

Chen, Jue; Kang, Qing; Jiang, Wenhui; Fan, Juan; Zhang, Mingdao; Yu, Shunying; Zhang, Chen

2015-01-01

Accumulating evidence has implied that serotonin system dysfunction may be involved in the etiology of anorexia nervosa (AN). Serotonin-transporter-linked promoter region (5-HTTLPR) polymorphism is the genetic variant coding for the serotonin transporter and has a modulatory effect on its expression. This study aimed to investigate the possible association between the 5-HTTLPR and the susceptibility and severity of AN in Han Chinese using a case-control (255 patients and 351 controls) and family based study (198 trios). Eating disorder examination was used to measure the severity of AN behavioral symptoms. For the case-control study, the 5-HTTLPR showed significant association with AN in our sample (genotypic P = 0.03). The frequency of S allele was significantly higher in patients than that in controls (OR = 1.38, 95%CI: 1.06-1.79, P = 0.017). For the family-based study, the S allele of 5-HTTLPR was preferentially transmitted rather than non-transmitted from the parents to affected offspring (P = 0.013). The results of ANCOVA test revealed no significant association between the 5-HTTLPR polymorphism and severity of AN. Our findings suggested that 5-HTTLPR is able to confer susceptibility to AN in Han Chinese.

DNA Repair Mechanism Gene, XRCC1A ( Arg194Trp) but not XRCC3 ( Thr241Met) Polymorphism Increased the Risk of Breast Cancer in Premenopausal Females: A Case-Control Study in Northeastern Region of India.

PubMed

Devi, K Rekha; Ahmed, Jishan; Narain, Kanwar; Mukherjee, Kaustab; Majumdar, Gautam; Chenkual, Saia; Zonunmawia, Jason C

2017-12-01

X-ray repair cross complementary group gene is one of the most studied candidate gene involved in different types of cancers. Studies have shown that X-ray repair cross complementary genes are significantly associated with increased risk of breast cancer in females. Moreover, studies have revealed that X-ray repair cross complementary gene polymorphism significantly varies between and within different ethnic groups globally. The present case-control study was aimed to investigate the association of X-ray repair cross complementary 1A (Arg194Trp) and X-ray repair cross complementary 3 (Thr241Met) polymorphism with the risk of breast cancer in females from northeastern region of India. The present case-control study includes histopathologically confirmed and newly diagnosed 464 cases with breast cancer and 534 apparently healthy neighborhood community controls. Information on sociodemographic factors and putative risk factors were collected from each study participant by conducting face-to-face interviews. Genotyping of X-ray repair cross complementary 1A (Arg194Trp) and X-ray repair cross complementary 3 (Thr241Met) was carried out by polymerase chain reaction-restriction fragment length polymorphism. For statistical analysis, both univariate and multivariate logistic regression analyses were performed. We also performed stratified analysis to find out the association of X-ray repair cross complementary genes with the risk of breast cancer stratified based on menstrual status. This study revealed that tryptophan allele (R/W-W/W genotype) in X-ray repair cross complementary 1A (Arg194Trp) gene significantly increased the risk of breast cancer (adjusted odds ratio = 1.44, 95% confidence interval = 1.06-1.97, P < .05 for R/W-W/W genotype). Moreover, it was found that tryptophan allele (W/W genotype) at codon 194 of X-ray repair cross complementary 1A (Arg194Trp) gene significantly increased the risk of breast cancer in premenopausal females (crude odds ratio = 1.66, 95% confidence interval = 1.11-2.46, P < .05 for R/W-W/W genotype). The present study did not reveal any significant association of X-ray repair cross complementary 3 (Thr241Met) polymorphism with the risk of breast cancer. The present study has explored that X-ray repair cross complementary 1A (Arg194Trp) gene polymorphism is significantly associated with the increased risk of breast cancer in premenopausal females from northeastern region of India which may be beneficial for prognostic purposes.

Relationship between C-Reactive Protein Level and Diabetic Retinopathy: A Systematic Review and Meta-Analysis

PubMed Central

Chen, Song; Duan, Hongtao; Kong, Jiahui; Li, Zedong

2015-01-01

Objectives To date, the relationship between C-reactive protein (CRP) level and diabetic retinopathy (DR) remains controversial. Therefore, a systematic review and meta-analysis was used to reveal the potential relationship between CRP level and DR. Methods A systematic search of PubMed, Embase.com, and Web of Science was performed to identify all comparative studies that compared the CRP level of two groups (case group and control group). We defined that diabetic patients without retinopathy and /or matched healthy persons constituted the control group, and patients with DR were the case group. Results Two cross sectional studies and twenty case control studies including a total of 3679 participants were identified. After pooling the data from all 22 studies, obvious heterogeneity existed between the studies, so a subgroup analysis and sensitivity analysis were performed. Removing the sensitivity studies, the blood CRP levels in the case group were observed to be higher than those in the control group [SMD = 0.22, 95% confidence interval (CI), 0.11–0.34], and the blood CRP levels in the proliferative diabetic retinopathy (PDR) group were also higher than those in the non-proliferative diabetic retinopathy (NPDR) group [SMD = 0.50, 95% CI, 0.30–0.70]. Conclusions The results from this current meta-analysis indicate that the CRP level might be used as a biomarker to determine the severity of DR. PMID:26636823

Opioid system genes in alcoholism: a case-control study in Croatian population.

PubMed

Cupic, B; Stefulj, J; Zapletal, E; Matosic, A; Bordukalo-Niksic, T; Cicin-Sain, L; Gabrilovac, J

2013-10-01

Due to their involvement in dependence pathways, opioid system genes represent strong candidates for association studies investigating alcoholism. In this study, single nucleotide polymorphisms within the genes for mu (OPRM1) and kappa (OPRK1) opioid receptors and precursors of their ligands - proopiomelanocortin (POMC), coding for beta-endorphin and prodynorphin (PDYN) coding for dynorphins, were analyzed in a case-control study that included 354 male alcohol-dependent and 357 male control subjects from Croatian population. Analysis of allele and genotype frequencies of the selected polymorphisms of the genes OPRM1/POMC and OPRK1/PDYN revealed no differences between the tested groups. The same was true when alcohol-dependent persons were subdivided according to the Cloninger's criteria into type-1 and type-2 groups, known to differ in the extent of genetic control. Thus, the data obtained suggest no association of the selected polymorphisms of the genes OPRM1/POMC and OPRK1/PDYN with alcoholism in Croatian population. Copyright © 2013 Elsevier Ltd. All rights reserved.

Neonatal medical exposures and characteristics of low birth weight hepatoblastoma cases: a report from the Children's Oncology Group.

PubMed

Turcotte, Lucie M; Georgieff, Michael K; Ross, Julie A; Feusner, James H; Tomlinson, Gail E; Malogolowkin, Marcio H; Krailo, Mark D; Miller, Nicole; Fonstad, Rachel; Spector, Logan G

2014-11-01

Hepatoblastoma is a malignancy of young children. Low birth weight is associated with significantly increased risk of hepatoblastoma and neonatal medical exposures are hypothesized as contributors. This study represents the largest case-control study of hepatoblastoma to date and aimed to define the role of neonatal exposures in hepatoblastoma risk among low birth weight children. Incident hepatoblastoma cases who were born <2,500 g (N = 60), diagnosed between 2000 and 2008, were identified through the Children's Oncology Group. Controls were recruited through state birth registries (N = 51). Neonatal medical exposures were abstracted from medical records. Subjects from the Vermont Oxford Network were used for further comparisons, as were existing reports on neonatal medical exposures. Case-control comparisons were hindered by poor matching within birth weight strata. Cases were smaller and received more aggressive neonatal treatment compared to controls, and reflected high correlation levels between birth weight and treatments. Similar difficulty was encountered when comparing cases to Vermont Oxford Network subjects; cases were smaller and required more aggressive neonatal therapy. Furthermore, it appears hepatoblastoma cases were exposed to a greater number of diagnostic X-rays than in case series previously reported in the neonatal literature. This study presents the largest case series of hepatoblastoma in <2,500 g birth weight infants with accompanying neonatal medical exposure data. Findings confirm that birth weight is highly correlated with exposure intensity, and neonatal exposures are themselves highly correlated, which hampers the identification of a causal exposure among hepatoblastoma cases. Experimental models or genetic susceptibility testing may be more revealing of etiology. © 2014 Wiley Periodicals, Inc.

A case-control study on the association between bladder cancer and prior bladder calculus.

PubMed

Chung, Shiu-Dong; Tsai, Ming-Chieh; Lin, Ching-Chun; Lin, Herng-Ching

2013-03-15

Bladder calculus is associated with chronic irritation and inflammation. As there is substantial documentation that inflammation can play a direct role in carcinogenesis, to date the relationship between stone formation and bladder cancer (BC) remains unclear. This study aimed to examine the association between BC and prior bladder calculus using a population-based dataset. This case-control study included 2,086 cases who had received their first-time diagnosis of BC between 2001 and 2009 and 10,430 randomly selected controls without BC. Conditional logistic regressions were employed to explore the association between BC and having been previously diagnosed with bladder calculus. Of the sampled subjects, bladder calculus was found in 71 (3.4%) cases and 105 (1.1%) controls. Conditional logistic regression analysis revealed that the odds ratio (OR) of having been diagnosed with bladder calculus before the index date for cases was 3.42 (95% CI = 2.48-4.72) when compared with controls after adjusting for monthly income, geographic region, hypertension, diabetes, coronary heart disease, and renal disease, tobacco use disorder, obesity, alcohol abuse, and schistosomiasis, bladder outlet obstruction, and urinary tract infection. We further analyzed according to sex and found that among males, the OR of having been previously diagnosed with bladder calculus for cases was 3.45 (95% CI = 2.39-4.99) that of controls. Among females, the OR was 3.05 (95% CI = 1.53-6.08) that of controls. These results add to the evidence surrounding the conflicting reports regarding the association between BC and prior bladder calculus and highlight a potential target population for bladder cancer screening.

Intrahousehold resource allocation and child growth in Mozambique: an ethnographic case-control study.

PubMed

Pfeiffer, J; Gloyd, S; Ramirez Li, L

2001-07-01

This study examines the effect of intrahousehold cash income control and decision-making patterns on child growth in the rural town of Sussundenga in Manica Province, Mozambique. A case-control study design was used to examine the influence of men's and women's disaggregated cash incomes on child growth. The research tested whether greater maternal share of household cash income was associated with (1) increased maternal decision-making and bargaining power in the household, and (2) better child growth. Fifty case households, with children 1-4 years old exhibiting poor growth, were matched with 50 control households of similar socioeconomic status in which all children under five demonstrated healthy growth. Data were gathered on gender-specific income generation and expenditure, specific intrahousehold allocation processes, diet, and sociodemographic variables using a formal survey. Key informant interviews, focus groups, and observation over one year provided ethnographic context for the case-control findings. Case-control differences were analyzed using McNemar's test, paired t-test, and conditional logistic regression. In spite of matching households for socioeconomic status, control household incomes were still slightly greater than cases. Male spouse income was also higher among controls while maternal income, and maternal proportion of household income, were not significantly different. Household meat, fish and poultry consumption, and maternal education were significantly greater among control households than cases. Greater maternal share of household income was not associated with greater maternal decision-making around cash. However, mothers must spend what little cash they earn on daily food supplies and usually request additional cash from spouses to cover these costs. There is evidence that if mothers earn enough to cover these socially prescribed costs, they can spend cash for other needs. Above this threshold, women's earnings may confer more bargaining power. The research also revealed a nuclearization of households, attenuation of community bonds of mutual aid, and increasing importance of cash for survival.

Sudden Death in Sleep of Laotian-Hmong Refugees in Thailand: A Case-Control Study.

ERIC Educational Resources Information Center

Munger, Ronald G.

1987-01-01

Surveillance for sudden deaths conducted among Laotian-Hmong refugees in Thailand revealed associations between sudden death in sleep and membership in the Green-Hmong subgroup, a family history of sudden death, and previous non-fatal sleep disturbances. Most victims are young men. (PS)

Bladder Pain Syndrome/Interstitial Cystitis Is Associated with Hyperthyroidism

PubMed Central

Liu, Shih-Ping; Lin, Ching-Chun; Lin, Herng-Ching

2013-01-01

Background Although the etiology of bladder pain syndrome/interstitial cystitis (BPS/IC) is still unclear, a common theme with BPS/IC patients is comorbid disorders which are related to the autonomic nervous system that connects the nervous system to end-organs. Nevertheless, no study to date has reported the association between hyperthyroidism and BPS/IC. In this study, we examined the association of IC/BPS with having previously been diagnosed with hyperthyroidism in Taiwan. Design Data in this study were retrieved from the Longitudinal Health Insurance Database. Our study consisted of 736 female cases with BPS/IC and 2208 randomly selected female controls. We performed a conditional logistic regression to calculate the odds ratio (OR) for having previously been diagnosed with hyperthyroidism between cases and controls. Results Of the 2944 sampled subjects, there was a significant difference in the prevalence of prior hyperthyroidism between cases and controls (3.3% vs. 1.5%, p<0.001). The conditional logistic regression analysis revealed that compared to controls, the OR for prior hyperthyroidism among cases was 2.16 (95% confidence interval (CI): 1.27∼3.66). Furthermore, the OR for prior hyperthyroidism among cases was 2.01 (95% CI: 1.15∼3.53) compared to controls after adjusting for diabetes, coronary heart disease, obesity, hyperlipidemia, chronic pelvic pain, irritable bowel syndrome, fibromyalgia, chronic fatigue syndrome, depression, panic disorder, migraines, sicca syndrome, allergies, endometriosis, and asthma. Conclusions Our study results indicated an association between hyperthyroidism and BPS/IC. We suggest that clinicians treating female subjects with hyperthyroidism be alert to urinary complaints in this population. PMID:23991081

Esophageal cancer among Brazilian agricultural workers: case-control study based on death certificates.

PubMed

Meyer, Armando; Alexandre, Pedro Celso Braga; Chrisman, Juliana de Rezende; Markowitz, Steven B; Koifman, Rosalina Jorge; Koifman, Sergio

2011-03-01

Several studies suggest that agricultural workers are at higher risk to develop and die by certain types of cancer. Esophageal cancer is not commonly listed among these types. However, some recent studies indicated that if there is an association between agricultural working and esophageal cancer, it s more likely to be observed among workers highly exposed to pesticides. In the present study, the magnitude of the association between agricultural working and esophageal cancer mortality was evaluated in a high pesticide use area in Brazil, through a death certificate-based case-control study. Cases were individuals from both genders, 30-59 years old, for whom basic cause of death was ascertained as cancer of the esophagus. For each case, one control was randomly selected from all possible controls for which the basic cause of death was ascertained as different from neoplasm and diseases of the digestive system. In addition, controls matched their cases by sex, age, year of death, and state of residence. Crude and adjusted odds ratios were then calculated to estimate the magnitude of the risk. Results showed that, in general, agricultural workers were at significantly higher risk to die by esophageal cancer, when compared to non-agricultural workers. Stratified analysis also revealed that the magnitude of such risk was slightly higher among illiterate agricultural workers, and simultaneous adjustment for several covariates showed that the risk was quantitatively higher among younger southern agricultural workers. These results suggest the esophageal cancer may be included among those types of cancer etiologically associated to agricultural working. Copyright © 2010 Elsevier GmbH. All rights reserved.

Bladder pain syndrome/interstitial cystitis is associated with hyperthyroidism.

PubMed

Chung, Shiu-Dong; Liu, Shih-Ping; Lin, Ching-Chun; Li, Hsien-Chang; Lin, Herng-Ching

2013-01-01

Although the etiology of bladder pain syndrome/interstitial cystitis (BPS/IC) is still unclear, a common theme with BPS/IC patients is comorbid disorders which are related to the autonomic nervous system that connects the nervous system to end-organs. Nevertheless, no study to date has reported the association between hyperthyroidism and BPS/IC. In this study, we examined the association of IC/BPS with having previously been diagnosed with hyperthyroidism in Taiwan. Data in this study were retrieved from the Longitudinal Health Insurance Database. Our study consisted of 736 female cases with BPS/IC and 2208 randomly selected female controls. We performed a conditional logistic regression to calculate the odds ratio (OR) for having previously been diagnosed with hyperthyroidism between cases and controls. Of the 2944 sampled subjects, there was a significant difference in the prevalence of prior hyperthyroidism between cases and controls (3.3% vs. 1.5%, p<0.001). The conditional logistic regression analysis revealed that compared to controls, the OR for prior hyperthyroidism among cases was 2.16 (95% confidence interval (CI): 1.27∼3.66). Furthermore, the OR for prior hyperthyroidism among cases was 2.01 (95% CI: 1.15∼3.53) compared to controls after adjusting for diabetes, coronary heart disease, obesity, hyperlipidemia, chronic pelvic pain, irritable bowel syndrome, fibromyalgia, chronic fatigue syndrome, depression, panic disorder, migraines, sicca syndrome, allergies, endometriosis, and asthma. Our study results indicated an association between hyperthyroidism and BPS/IC. We suggest that clinicians treating female subjects with hyperthyroidism be alert to urinary complaints in this population.

75 FR 68548 - Airworthiness Directives; Airbus Model A318, A319, A320, and A321 Series Airplanes

Federal Register 2010, 2011, 2012, 2013, 2014

2010-11-08

...: One case of elevator servo-control disconnection has been experienced on an aeroplane of the A320 family. Investigation has revealed that the failure occurred at the servo-control rod eye-end. Further to... servo-control rod eye-ends. In several cases, both actuators of the same elevator surface were affected...

A Case Control Study Reveals that Polyomaviruria Is Significantly Associated with Interstitial Cystitis and Vesical Ulceration

PubMed Central

Winter, Benjamin J.; O'Connell, Helen E.; Bowden, Scott; Carey, Marcus; Eisen, Damon P.

2015-01-01

Objectives To investigate whether polyomaviruses contribute to interstitial cystitis pathogenesis. Subjects and Methods A prospective study was performed with 50 interstitial cystitis cases compared with 50 age-matched, disease-free controls for the frequency of polyomaviruria. Associations between polyomaviruria and disease characteristics were analysed in cases. Polyomavirus in urine and bladder tissue was detected with species (JC virus vs. BK virus) specific, real-time PCR. Results Case patients were reflective of interstitial cystitis epidemiology with age range from 26–88 years (median 58) and female predominance (41/50 F). There was a significant increase in the frequency of polyomavirus shedding between cases and controls (p<0.02). Polyomavirus shedding, in particular BK viruria, was associated with vesical ulceration, a marker of disease severity, among interstitial cystitis cases after adjustment for age and sex (OR 6.8, 95% CI 1.89–24.4). There was a significant association among cases between the presence of BK viruria and response to intravesical Clorpactin therapy (OR 4.50, 95% CI 1.17–17.4). Conclusion The presence of polyomaviruria was found to be associated with the ulcerative form of interstitial cystitis. Clorpactin, which has anti-DNA virus activity, was more likely to improve symptoms in the presence of BK viruria. These data from this pilot study suggest associations between polyomaviruria and interstitial cystitis warranting further investigation. PMID:26325074

Acute venous thrombosis as complication and clue to diagnose a SAPHO syndrome case. A case report.

PubMed

Rosero, A; Ruano, R; Martin, M; Hidalgo, C; Garcia-Talavera, J

2013-01-01

This report concerns a male adult admitted for sternal and left arm pain, who was diagnosed and treated for acute deep venous thrombosis in the left subclavian and axillary veins. X-ray and a hybrid single photon emission tomography and computed tomography (SPECT-CT) scintigraphy scan revealed high intensity uptake in both sternoclavicular joints, which corresponded to hyperostosis, thereby suggesting a SAPHO syndrome. Upon reviewing the patient's medical history, we found dermatological pustulosis disease and an intermittent sternal chest pain untreated since 10 years ago. In the biochemical study we found erythrocyte sedimentation rate (ESR) and C-reactive protein (CRP) elevation, hyperglobulinemia, and mild anaemia. Initial treatment included nonsteroidal anti-inflammatory drugs (NSAIDs) with low response, which then changed to methotrexate, sulfasalazine, and prednisone. The patient's pain was controlled almost completely in 10 months. A control bone scan revealed a marked decrease in intensity of bone deposits according to clinical response. To our knowledge, there are only a few cases of SAPHO and thrombosis and none are followed up with a bone SPECT-CT scan.

A Comparative study of Personality as a common pathway in HIV Sero-positive and Alcohol dependent cases on Five Factor Model

PubMed Central

Srivastava, Kalpana; Singh, Amool R.; Chaudhury, Suprakash

2016-01-01

Aim: The aim of this study was to identify the personality traits of alcohol and human immunodeficiency virus (HIV)-positive patients and to compare them with normal controls. Materials and Methods: This cross-sectional study included 100 consecutive patients with alcohol dependence and HIV each and a control group of 100 normal cases without any physical or psychiatric illness. A score of 2 or less on the General Health Questionnaire was taken as cutoff, and the participants were included in the study with written informed consent. All participants were assessed with the NEO personality inventory revised and sensation-seeking scale (SSS). Results: There were significant differences among the study group on all the five factors, i.e., neuroticism (N), extraversion (E), conscientiousness (C), openness to experience (O), and agreeableness (A). On factor “N,” HIV and alcohol group scored significantly more as compared to normal group. Odds ratio revealed high neuroticism to be a risk factor in alcohol-dependent and HIV cases (P < 0.05). The normal group scored significantly higher on factor “E” as compared to HIV and alcohol cases. High scores on factor “E” and “C” have a protective. Odds ratio found low score of factor “C” as a risk factor; however, “O” did not emerge as a risk factor. The logistic regression revealed that high scores on “N” and “E” and low “A” score had a significant association with alcohol dependence (P < 0.05). Among HIV cases, high score on “N” and “E” and low “C” score emerged significant. Alcohol cases scored significantly more on boredom susceptibility (BS) on SSS as compared to HIV and normal controls. On disinhibition (DIS), HIV cases and alcohol cases scored significantly higher as compared to normal group (P < 0.05). Conclusion: High “N” scores on NEO personality inventory are significantly associated with alcohol dependence and HIV while high scores on “E” and “C” have a protective effect. On SSS, HIV-positive cases are characterized by high DIS scores while alcohol dependence is associated with high scores on BS and DIS. PMID:28163408

FOXP3 gene variations and susceptibility to autism: A case-control study.

PubMed

Safari, Mohammad Reza; Ghafouri-Fard, Soudeh; Noroozi, Rezvan; Sayad, Arezou; Omrani, Mir Davood; Komaki, Alireza; Eftekharian, Mohammad Mahdi; Taheri, Mohammad

2017-01-05

Autism Spectrum Disorders (ASD) are a group of heterogeneous neurodevelopmental disorders associated with immune system dysregulation. There are supporting evidences for the role of Forkhead Box P3 (FOXP3) gene as a lineage specification factor of regulatory T cells in the pathogenesis of ASD. The aim of this study was to explore possible relationship between genetic variants rs2232365 and rs3761548 of FOXP3 and ASD in 523 ASD patients versus 472 control individuals. Allele frequency analyses showed significant overpresentation of rs2232365-G allele in cases versus controls. In addition, rs2232365 GG genotype was associated with ASD in dominant inheritance model. Haplotype analysis revealed no significant association of any estimated block of rs2232365/rs3761548 with ASD. Our study indicated that rs2232365 is associated with ASD. Copyright © 2016 Elsevier B.V. All rights reserved.

A large case-control study reveals a positive association between bisphosphonate use and delayed dental healing and osteonecrosis of the jaw.

PubMed

Borromeo, Gelsomina L; Brand, Caroline; Clement, John G; McCullough, Michael; Crighton, Lisa; Hepworth, Graham; Wark, John D

2014-06-01

This study sought to investigate, using a case-control study design, the association between bisphosphonate therapy and delayed dental healing and osteonecrosis of the jaw. Identification of potential cases of delayed dental healing was by consecutive screening of Specialist Oral and Maxillofacial and Special Needs Dentist clinic records for patients aged older than 50 years, during a 6-month window, in Victoria, Australia. Cases were confirmed by a case adjudication panel blinded to bisphosphonate status. Cases associated with malignancy or local radiotherapy were excluded. Controls were matched for age, sex, and source of dental referral (1:4, n = 160 controls). Variables of interest were dental precipitants, dental clinic type, smoking history, and medical comorbidities. A total of 4212 of 22,358 patients met inclusion criteria, of which 69 were potential cases with 40 (0.95%) confirmed cases. The odds ratio (OR) for developing delayed dental healing when taking an oral bisphosphonate was 13.1 (95% confidence interval [CI] 4.4 to 39.3; p < 0.001). There were no cases associated with intravenous bisphosphonate use. There was some evidence of an interaction with age, sex, and clinic type. When adjusted for smoking, the estimated odds ratio was 11.6 (95% CI 1.9 to 69.4; p = 0.01). There was an association between having another illness and delayed dental healing (OR = 2.3; 95% CI 1.0 to 5.2). A dental precipitant was present in 39 of 40 (97.5%) delayed dental healing cases. An important association between bisphosphonate use and delayed dental healing in the setting of benign bone disease, predominately in individuals with a dental precipitant, has been demonstrated. © 2014 American Society for Bone and Mineral Research.

Case-control study on the prevention of occupational eye injuries.

PubMed

Ho, Chi-Kung; Yen, Ya-Lin; Chang, Cheng-Hsien; Chiang, Hung-Che; Shen, Ying-Ying; Chang, Po-Ya

2008-01-01

The risk factors for occupational eye injuries have never been published in Taiwan. We conducted a case-control study to analyze the differences among workers on their knowledge, attitude to and practice (KAP) of occupational accident prevention. In the study, a statistical model was also set up for predicting the occupational problem. Subjects, including 31 cases of work-related eye injuries and 62 controls, completed a structured questionnaire on KAP, which revealed that 80.6% and 62.7% of workers in the case and control groups, respectively, did not wear eye protection during work. Furthermore, we found that temporary employment (OR, 10.7; 95% CI, 3.03-36.16) and fewer than 10 years of education (OR, 4.44; 95% CI, 1.73-11.44) were the major risk factors for occupational eye injuries. In addition, we developed a logistic regression model with four predictors (temporary employment, education years less than 10, poor management of industrial health and safety in the workplace, and poor attitude towards accident prevention) for the occurrence of occupational eye injuries. In conclusion, in Taiwan, compulsory regulation of wearing eye protection during work, good education, management of work safety and hygiene and employee (especially temporary worker) commitment to safety and health are strongly recommended prevention strategies.

Meta-analysis identifies a MECOM gene as a novel predisposing factor of osteoporotic fracture

PubMed Central

Hwang, Joo-Yeon; Lee, Seung Hun; Go, Min Jin; Kim, Beom-Jun; Kou, Ikuyo; Ikegawa, Shiro; Guo, Yan; Deng, Hong-Wen; Raychaudhuri, Soumya; Kim, Young Jin; Oh, Ji Hee; Kim, Youngdoe; Moon, Sanghoon; Kim, Dong-Joon; Koo, Heejo; Cha, My-Jung; Lee, Min Hye; Yun, Ji Young; Yoo, Hye-Sook; Kang, Young-Ah; Cho, Eun-Hee; Kim, Sang-Wook; Oh, Ki Won; Kang, Moo II; Son, Ho Young; Kim, Shin-Yoon; Kim, Ghi Su; Han, Bok-Ghee; Cho, Yoon Shin; Cho, Myeong-Chan; Lee, Jong-Young; Koh, Jung-Min

2014-01-01

Background Osteoporotic fracture (OF) as a clinical endpoint is a major complication of osteoporosis. To screen for OF susceptibility genes, we performed a genome-wide association study and carried out de novo replication analysis of an East Asian population. Methods Association was tested using a logistic regression analysis. A meta-analysis was performed on the combined results using effect size and standard errors estimated for each study. Results In a combined meta-analysis of a discovery cohort (288 cases and 1139 controls), three hospital based sets in replication stage I (462 cases and 1745 controls), and an independent ethnic group in replication stage II (369 cases and 560 for controls), we identified a new locus associated with OF (rs784288 in the MECOM gene) that showed genome-wide significance (p=3.59×10−8; OR 1.39). RNA interference revealed that a MECOM knockdown suppresses osteoclastogenesis. Conclusions Our findings provide new insights into the genetic architecture underlying OF in East Asians. PMID:23349225

Case-controlled study on risk factors for the development of constipation in hospitalized patients.

PubMed

Ueki, Tetsuya; Nagai, Keiko; Ooe, Nobuharu; Nakashima, Mihoko N; Nishida, Koyo; Nakamura, Junzo; Nakashima, Mikiro

2011-03-01

Constipation is a common problem in hospitalized patients; however, the relative risks of its development with various factors have not been clarified. To clarify the risk factors associated with constipation, we performed a case-controlled study of 165 hospitalized patients who were not laxative users on admission. They were divided into case (n=35) and control (n=130) groups according to laxative administration during hospitalization. Comparison of the patient backgrounds in the two groups revealed significant differences in the activities of daily living, length of fasting, rest level on admission, cerebrovascular disease, and administration of hypnotics. Multiple logistic regression analysis using these five factors as autonomous variables showed that administration of hypnotics (odds ratio, 2.79; 95% confidence interval, 1.10-7.06; p=0.031) was significantly related to laxative use. Therefore, the administration of hypnotics may be the principal cause of constipation development in hospitalized patients and they should be used with caution.

Association between rs3087243 and rs231775 polymorphism within the cytotoxic T-lymphocyte antigen 4 gene and Graves' disease: a case/control study combined with meta-analyses

PubMed Central

Dai, Yu; Zeng, Tianshu; Xiao, Fei; Chen, Lulu; Kong, Wen

2017-01-01

We conducted a case/control study to assess the impact of SNP rs3087243 and rs231775 within the CTLA4 gene, on the susceptibility to Graves' disease (GD) in a Chinese Han dataset (271 cases and 298 controls). The frequency of G allele for rs3087243 and rs231775 was observed to be significantly higher in subjects with GD than in control subjects (p = 0.005 and p = 0.000, respectively). After logistic regression analysis, a significant association was detected between SNP rs3087243 and GD in the additive and recessive models. Similarly, association for the SNP rs231775 could also be detected in the additive model, dominant model and recessive model. A meta-analysis, including 27 published datasets along with the current dataset, was performed to further confirm the association. Consistent with our case/control results, rs3087243 and rs231775 showed a significant association with GD in all genetic models. Of note, ethnic stratification revealed that these two SNPs were associated with susceptibility to GD in populations of both Asian and European descent. In conclusion, our data support that the rs3087243 and rs231775 polymorphisms within the CTLA4 gene confer genetic susceptibility to GD. PMID:29299173

Meta-analysis of expression and function of neprilysin in Alzheimer's disease.

PubMed

Zhang, Huifeng; Liu, Dan; Wang, Yixing; Huang, Huanhuan; Zhao, Yujia; Zhou, Hui

2017-09-14

Neprilysin (NEP) is one of the most important Aβ-degrading enzymes, and its expression and activity in Alzheimer's brain have been widely reported, but the results remain debatable. Thus, the meta-analysis was performed to elucidate the role of NEP in Alzheimer's disease (AD). The relevant case-control or cohort studies were retrieved according to our inclusion/exclusion criteria. Six studies with 123 controls and 141 AD cases, seven studies with 102 controls and 90 AD cases, and four studies with 93 controls and 132 AD cases were included in meta-analysis of NEP's protein, mRNA, and enzyme activity respectively. We conducted Meta regression to detect the sources of heterogeneity and further performed cumulative meta-analysis or subgroup analysis. Our meta-analysis revealed a significantly lower level of NEP mRNA (SMD=-0.44, 95%CI: -0.87, -0.00, p=0.049) in AD cases than in non-AD cases, and such pattern was not altered over time in the cumulative meta-analysis. However, the decrease of NEP protein (SMD=-0.18, 95%CI: -0.62, 0.25) and enzyme activity (SMD=-0.35, 95%CI: -1.03, 0.32) in AD cases did not pass the significance check, while the cumulative meta-analysis by average age showed the pooled effect became insignificant as adding the studies with younger subjects, which indicates that the protein expression and enzyme activity of NEP in the cortex are affected by age. Therefore, the present meta-analysis suggests the need of further investigation of roles of NEP in AD pathogenesis and treatment. Copyright © 2017 Elsevier B.V. All rights reserved.

Iron and vitamin D levels among autism spectrum disorders children.

PubMed

Bener, Abdulbari; Khattab, Azhar O; Bhugra, Dinesh; Hoffmann, Georg F

2017-01-01

The aim of this study was to investigate iron deficiency anemia and Vitamin D deficiency among autism children and to assess the importance of risk factors (determinants). This was a case-control study conducted among children suffering from autism at the Hamad Medical Corporation in Qatar. A total of 308 cases and equal number of controls were enrolled. The Autism Diagnostic Observation Schedule-Generic was the instrument used for diagnosis of Autism. The mean age (±standard deviation, in years) for autistic versus control children was 5.39 ± 1.66 versus 5.62 ± 1.81, respectively. The mean value of serum iron levels in autistic children was severely reduced and significantly lower than in control children (74.13 ± 21.61 μg/dL with a median 74 in autistic children 87.59 ± 23.36 μg/dL in controls) (P = 0.003). Similarly, the study revealed that Vitamin D deficiency was considerably more common among autistic children (18.79 ± 8.35 ng/mL) as compared to healthy children (22.18 ± 9.00 ng/mL) (P = 0.004). Finally, mean values of hemoglobin, ferritin, magnesium; potassium, calcium; phosphorous; glucose, alkaline phosphate, hematocrit, white blood cell, and mean corpuscular volume were all statistically significantly higher in healthy control children as compared to autistic children (P < 0.001). Multivariate logistic regression analysis revealed that serum iron deficiency, serum calcium levels, serum Vitamin D levels; ferritin, reduced physical activity; child order, body mass index percentiles, and parental consanguinity can all be considered strong predictors and major factors associated with autism spectrum disorders. This study suggests that deficiency of iron and Vitamin D as well as anemia were more common in autistic compared to control children.

Neonatal Medical Exposures and Characteristics of Low Birth Weight Hepatoblastoma Cases: A Report From the Children's Oncology Group

PubMed Central

Turcotte, Lucie M.; Georgieff, Michael K.; Ross, Julie A.; Feusner, James H.; Tomlinson, Gail E.; Malogolowkin, Marcio H.; Krailo, Mark D.; Miller, Nicole; Fonstad, Rachel; Spector, Logan G.

2015-01-01

Background Hepatoblastoma is a malignancy of young children. Low birth weight is associated with significantly increased risk of hepatoblastoma and neonatal medical exposures are hypothesized as contributors. This study represents the largest case–control study of hepatoblastoma to date and aimed to define the role of neonatal exposures in hepatoblastoma risk among low birth weight children. Procedure Incident hepatoblastoma cases who were born <2,500 g (N = 60), diagnosed between 2000 and 2008, were identified through the Children's Oncology Group. Controls were recruited through state birth registries (N = 51). Neonatal medical exposures were abstracted from medical records. Subjects from the Vermont Oxford Network were used for further comparisons, as were existing reports on neonatal medical exposures. Results Case–control comparisons were hindered by poor matching within birth weight strata. Cases were smaller and received more aggressive neonatal treatment compared to controls, and reflected high correlation levels between birth weight and treatments. Similar difficulty was encountered when comparing cases to Vermont Oxford Network subjects; cases were smaller and required more aggressive neonatal therapy. Furthermore, it appears hepatoblastoma cases were exposed to a greater number of diagnostic X-rays than in case series previously reported in the neonatal literature. Conclusions This study presents the largest case series of hepatoblastoma in <2,500 g birth weight infants with accompanying neonatal medical exposure data. Findings confirm that birth weight is highly correlated with exposure intensity, and neonatal exposures are themselves highly correlated, which hampers the identification of a causal exposure among hepatoblastoma cases. Experimental models or genetic susceptibility testing may be more revealing of etiology. PMID:25044669

Public health case studies in diabetes prevention and control: innovation, partnerships, and funding.

PubMed

Davis, Mary V; Cannon, Margaret M; Reese, April; Lovette, Beth; Porterfield, Deborah S

2011-01-01

In 2006, we conducted case studies of 4 North Carolina local health departments (LHDs) that scored highly on an index of diabetes prevention and control performance, to explore characteristics that may serve as barriers or facilitators of diabetes prevention and control services. Case studies involving in-depth interviews were conducted at 4 LHDs. Sites were selected on the basis of 2 variables, known external funding for diabetes services and population size, that were associated with performance in diabetes prevention and control in a 2005 survey of all North Carolina LHDs. Fourteen interviews (individual and group) were conducted among 17 participants from the 4 LHDs. The main outcome measures were LHD characteristics that facilitate or hinder the performance of diabetes programs and services. Interviews revealed that all 4 high-performing LHDs had received some sort of funding from a source external to the LHD. Case study participants indicated that barriers to additional service delivery included low socioeconomic status of the population and lack of financial resources. Having a diabetes self-management education program that was recognized by the American Diabetes Association appeared to be a facilitator of diabetes services provision. Other facilitators were leadership and staff commitment, which appeared to facilitate the leveraging of partnerships and funding opportunities, leading to enhanced service delivery. The small number of LHDs participating in the study and the cross-sectional study design were limitations. Leadership, staff commitment, partnership leveraging, and funding appear to be associated with LHD performance in diabetes prevention and control services. These factors should be further studied in future public health systems and services research.

Healthy control subjects are poorly defined in case-control studies of irritable bowel syndrome

PubMed Central

Ghorbani, Shireen; Nejad, Amir; Law, David; Chua, Kathleen S.; Amichai, Meridythe M.; Pimentel, Mark

2015-01-01

Background Case-control studies are vital for understanding the pathophysiology of gastrointestinal disease. While the definition of disease is clear, the definition of healthy control is not. This is particularly relevant for functional bowel diseases such as irritable bowel syndrome (IBS). In this study, a systematic review formed the basis for a prospective study evaluating the effectiveness of commonly used techniques for defining healthy controls in IBS. Methods A systematic review of the literature was conducted to identify case-control studies involving functional gastrointestinal disorders. “Lack of Rome criteria”, self-description as “healthy” and the bowel disease questionnaire (BDQ) were common methods for identifying healthy controls. These 3 methods were then applied to a cohort of 53 non-patient subjects to determine their validity compared to objective outcome measures (7-day stool diary). Results “Lack of Rome criteria” and “healthy” self-description were the most common methods for identifying healthy control subjects, but many studies failed to describe the methods used. In the prospective study, more subjects were identified as non-healthy using the BDQ than using either lack of Rome criteria (P=0.01) or “healthy” self-description (P=0.026). Furthermore, stool diaries identified several subjects with abnormal stool form and/or frequency which were not identified using lack of Rome criteria or the “healthy” question. Comparisons revealed no agreement (κ) between the different methods for defining healthy controls. Conclusions The definitions of healthy controls in studies of functional bowel diseases such as IBS are inconsistent. Since functional symptoms are common, a strict definition of “normal” is needed in this area of research. PMID:25609236

Chronic Rhinosinusitis Associated with Erectile Dysfunction: A Population-Based Study.

PubMed

Tai, Shu-Yu; Wang, Ling-Feng; Tai, Chih-Feng; Huang, Yu-Ting; Chien, Chen-Yu

2016-08-31

Few studies have investigated the relationship between chronic rhinosinusitis (CRS) and erectile dysfunction (ED). This case-control study aimed to investigate the association between CRS and the risk of ED in a large national sample. Tapping Taiwan's National Health Insurance Research Database, we identified people 30 years or older with a new primary diagnosis of CRS between 1996 and 2007. The cases were compared with sex- and age-matched controls. We identified 14 039 cases and recruited 140 387 matched controls. Both groups were followed up in the same database until the end of 2007 for instances of ED. Of those with CRS, 294 (2.1%) developed ED during a mean (SD) follow-up of 3.20 (2.33) years, while 1 661 (1.2%) of the matched controls developed ED, mean follow up 2.97 (2.39) years. Cox regression analyses were performed adjusting for sex, age, insurance premium, residence, hypertension, hyperlipidemia, diabetes, obesity, coronary heart disease, chronic kidney disease, chronic obstructive pulmonary disease, asthma, allergic rhinitis, arrhythmia, ischemic stroke, intracerebral hemorrhage, and medications. CRS was revealed to be an independent predictor of ED in the fully adjusted model (HR = 1.51; 95% CI = 1.33-1.73; P < 0.0001).

Case-control study of multiple chemical sensitivity, comparing haematology, biochemistry, vitamins and serum volatile organic compound measures.

PubMed

Baines, Cornelia Johanna; McKeown-Eyssen, Gail Elizabeth; Riley, Nicole; Cole, David Edward C; Marshall, Lynn; Loescher, Barry; Jazmaji, Vartouhi

2004-09-01

Multiple chemical sensitivity (MCS), although poorly understood, is associated with considerable morbidity. To investigate potential biological mechanisms underlying MCS in a case-control study. Two hundred and twenty-three MCS cases and 194 controls (urban females, aged 30-64 years) fulfilled reproducible eligibility criteria with discriminant validity. Routine laboratory results and serum levels of volatile organic compounds (VOCs) were compared. Dose-response relationships, a criterion for causality, were examined linking exposures to likelihood of case status. Routine laboratory investigations revealed clinically unimportant case-control differences in means. Confounder-adjusted odds ratios (OR) showed MCS was negatively associated with lymphocyte count and total plasma homocysteine, positively associated with mean cell haemoglobin concentration, alanine aminotransferase and serum vitamin B6, and not associated with thyroid stimulating hormone, folate or serum vitamin B12. More cases than controls had detectable serum chloroform (P = 0.001) with the OR for detectability 2.78 (95% confidence interval = 1.73-4.48, P < 0.001). Chloroform levels were higher in cases. However, cases had significantly lower means of detectable serum levels of ethylbenzene, m&p-xylene, 3-methylpentane and hexane, and means of all serum levels of 1,3,5- and 1,2,3-trimethylbenzene, 2- and 3-methylpentane, and m&p-xylene. Our findings are inconsistent with proposals that MCS is associated with vitamin deficiency or thyroid dysfunction, but the association of lower lymphocyte counts with an increased likelihood of MCS is consistent with theories of immune dysfunction in MCS. Whether avoidance of exposures or different metabolic pathways in cases explain the observed lower VOC levels or the higher chloroform levels should be investigated.

Granulocyte, monocyte and blast immunophenotype abnormalities in acute myeloid leukemia with myelodysplasia-related changes.

PubMed

Ayar, Sonali P; Ravula, Sreelakshmi; Polski, Jacek M

2014-01-01

Little literature exists regarding granulocyte and monocyte immunophenotype abnormalities in Acute Myeloid Leukemia (AML). We hypothesized that granulocyte and monocyte immunophenotype abnormalities are common in AML, and especially in AML with myelodysplasia-related changes (AMLMRC). Bone marrow or peripheral blood specimens from 48 cases of AML and 22 cases of control specimens were analyzed by flow cytometric immunophenotyping. Granulocyte, monocyte, and blast immunophenotype abnormalities were compared between cases of AML versus controls and AMLMRC versus AML without myelodysplasia. The results revealed that granulocyte, monocyte, and blast abnormalities were more common in AMLMRC than in AML without myelodysplasia or control cases. The difference reached statistical significance for abnormalities of granulocytes and abnormalities in all cells of interest. From the numerous individual abnormalities, only CD25 expression in blasts was significantly more prevalent in AMLMRC in this study. We conclude that detection of granulocyte, monocyte, and blast immunophenotype abnormalities can contribute to the diagnosis of AMLMRC.

Is stress level related to Dengue Hemorrhagic fever cases in Semarang?

NASA Astrophysics Data System (ADS)

Purdianingrum, Julliana; Adib Mubarok, Muhammad; Putri Sunarno, Rahmah; Khairunisa, Ummi; Endah Wahyuningsih, Nur; Murwani, Retno; Budiharjo, Anto

2018-05-01

Dengue Hemorrhagic Fever (DHF) is transmitted to humans by dengue virus harboring Aedes aegypti. Immune response against viral infection can be influenced by stress as stress could weaken immune response. Stress can cause illness through physiological changes and changes in immune function. The immunological changes associated with stress were adapted from the immunological changes in response to infection. The purpose of this study was to determine the relationship between DHF cases with stress level._We used a case control study with DHF sample cases from three hospitals in Semarang city (n=27) from the period of March to May 2017 and the control groups from healthy respondents with matched age, sex, and district location (n=27). The data was processed by Chi-Square test._Levels of stress were categorized into two namely high and low tress levels. The data was normally distributed. The frequency distribution in case group at high stress category were 15 respondents (55.6%) and low stress were 12 respondents (44.4%). Meanwhile, in control group there were 8 respondents (29.6%) at high stress category and 19 respondents (70.4%) at low stress category. The Chi Square Test revealed that the p value was 0,054 and OR was 2,969. In conclusion there was no relation between stress level and Dengue Hemorrhagic Fever cases.

A Case for Ubiquitous, Integrated Computing in Teacher Education

ERIC Educational Resources Information Center

Kay, Robin H.; Knaack, Liesel

2005-01-01

The purpose of this study was to evaluate the effect of an integrated, laptop-based approach on pre-service teachers' computer attitudes, ability and use. Pre-post program analysis revealed significant differences in behavioural attitudes and perceived control (self-efficacy), but not in affective and cognitive attitudes. In addition, there was a…

Resolvent analysis of suboptimal control for turbulent skin friction drag reduction

NASA Astrophysics Data System (ADS)

Nakashima, Satoshi; Fukagata, Koji; Luhar, Mitul

2017-11-01

We study the drag reduction mechanisms of suboptimal control (Lee et al. 1998) via the resolvent formulation developed by McKeon and Sharma (2010). Under this formulation, the nonlinear term in the Navier-Stokes equations is regarded as a forcing which acts upon the linear dynamics to output a velocity response across Fourier space. This analysis enables targeted analyses of the effects of the control on modes resembling dynamically important coherent structures such as the near-wall (NW) cycle. Suboptimal control generates blowing and suction at the wall that is proportional to the streamwise (Case ST) or spanwise (Case SP) wall shear-stress, with the magnitude of blowing and suction being a design parameter. Both Case ST and SP can suppress resolvent modes resembling the NW cycle. However, for Case ST, the analysis reveals that the control leads to substantial increase in amplification for structures that are long in the spanwise direction. High actuation of such energetic spanwise structures was confirmed by conducting limited direct numerical simulations. In addition to the study of modes resembling the NW cycle, we will discuss modes of varying propagating speed and wavelength to provide insight into the effects of suboptimal control across spectral space. This work was supported through Grant-in-Aid for Scientific Research (C) (No. 25420129) by Japan Society for the Promotion of Science (JSPS).

Serous Tubal Carcinogenesis: The Recent Concept of Origin of Ovarian, Primary Peritoneal and Fallopian Tube High-Grade Serous Carcinoma.

PubMed

Kar, Tushar; Kar, Asaranti; Dhal, Ipsita; Panda, Sasmita; Biswal, Priyadarshini; Nayak, Bhagyalaxmi; Rout, Niranjan; Samantray, Sagarika

2017-12-01

Pelvic (non-uterine) high-grade serous carcinomas (PHGSC) including ovarian, tubal and primary peritoneal serous carcinomas have increased death: incidence ratio due to presentation at advanced stage, rapid progression, poor prognosis and high morbidity. Ambiguity regarding their pathogenesis and lack of a proper screening method is the cause of their late detection and high fatality rate. This study was undertaken to assess the fallopian tube for the presence of precursor lesions in pelvic serous carcinoma. This was a prospective case-control study carried out in a tertiary care center. Consecutive specimens of 55 cases of pelvic high-grade serous carcinoma and 41 controls inclusive of 21 low-grade serous carcinoma, 10 benign adnexal masses and 10 normal adnexa were included in the study. Both side fallopian tubes in each case were subjected to histopathological examination and p53, Ki67 immunohistochemistry. There were 55 cases of PHGSC comprising of 50 cases of ovarian HGSC, two cases of primary peritoneal carcinoma (PPC) and three cases of tubal carcinoma. Serous tubal intraepithelial carcinoma (STIC) was detected in 14 cases (28%), p53 signature in 13 cases (26%) and tubal intraepithelial lesion in transition in 10 cases (20%) of ovarian HGSC. One case (50%) of PPC and one (33%) case of tubal carcinoma revealed the presence of STIC. None of the controls exhibited any precursor lesion except ovarian low-grade serous carcinoma where p53 was detected in 20% of cases. This revelation concludes that fallopian tubes are the sites of precursors of PHGSC to a large extent. In the absence of a proper screening method of HGSC, prophylactic bilateral salpingectomy at hysterectomy for benign diseases can achieve ultimate goal of reduction in incidence of PHGSC.

Periodontitis and risk of psoriasis: a systematic review and meta-analysis.

PubMed

Ungprasert, P; Wijarnpreecha, K; Wetter, D A

2017-05-01

The association between periodontitis and systemic diseases has been increasingly recognized. However, the data on the association between periodontitis and psoriasis are still limited. To summarize all available data on the association between periodontitis and the risk of psoriasis. Two investigators independently searched published studies indexed in MEDLINE and EMBASE databases from inception to July 2016 using a search strategy that included terms for psoriasis and periodontitis. Studies were included if the following criteria were met: (i) case-control or cohort study comparing the risk of psoriasis in subjects with and without periodontitis; (ii) subjects without periodontitis were used as comparators in cohort studies while participants without psoriasis were used as controls in case-control studies; and (iii) effect estimates and 95% confidence intervals (CI) were provided. Point estimates and standard errors from each study were extracted and combined together using the generic inverse variance technique described by DerSimonian and Laird. Two cohort studies and three case-control studies met the inclusion criteria and were included in the meta-analysis. The pooled risk ratio of psoriasis in patients with periodontitis versus comparators was 1.55 (95% CI, 1.35-1.77). The statistical heterogeneity was insignificant with an I 2 of 18%. Subgroup analysis according to study design revealed a significantly higher risk among patients with periodontitis with a pooled RR of 1.50 (95% CI, 1.37-1.64) for cohort studies and a pooled RR of 2.33 (95% CI, 1.51-3.60) for case-control studies. Patients with periodontitis have a significantly elevated risk of psoriasis. © 2016 European Academy of Dermatology and Venereology.

Soy isoflavone consumption and colorectal cancer risk: a systematic review and meta-analysis.

PubMed

Yu, Yi; Jing, Xiaoli; Li, Hui; Zhao, Xiang; Wang, Dongping

2016-05-12

Colorectal cancer (CRC) is one of the most predominant solid carcinomas in Western countries. However, there is conflicting information on the effects of soy isoflavone on CRC risk. Therefore, we performed a meta-analysis to assess the association between soy isoflavone consumption and CRC risk in humans using PubMed, Embase, Web of Science, and Cochrane Library databases. A total of 17 epidemiologic studies, which consisted of thirteen case-control and four prospective cohort studies, met the inclusion criteria. Our research findings revealed that soy isoflavone consumption reduced CRC risk (relative risk, RR: 0.78, 95% CI: 0.72-0.85; I(2) = 34.1%, P = 0.024). Based on subgroup analyses, a significant protective effect was observed with soy foods/products (RR: 0.79; 95% CI: 0.69-0.89), in Asian populations (RR: 0.79; 95% CI: 0.72-0.87), and in case-control studies (RR: 0.76; 95% CI: 0.68-0.84). Therefore, soy isoflavone consumption was significantly associated with a reduced risk of CRC risk, particularly with soy foods/products, in Asian populations, and in case-control studies. However, due to the limited number of studies, other factors may affect this association.

Potential Genetic Risk Factors for Chronic TMD: Genetic Associations from the OPPERA Case Control Study

PubMed Central

Smith, Shad B.; Maixner, Dylan; Greenspan, Joel; Dubner, Ron; Fillingim, Roger; Ohrbach, Richard; Knott, Charles; Slade, Gary; Bair, Eric; Gibson, Dustin G.; Zaykin, Dmitri V.; Weir, Bruce; Maixner, William; Diatchenko, Luda

2011-01-01

Genetic factors play a role in the etiology of persistent pain conditions, putatively by modulating underlying processes such as nociceptive sensitivity, psychological well-being, inflammation, and autonomic response. However, to date, only a few genes have been associated with temporomandibular disorders (TMD). This study evaluated 358 genes involved in pain processes, comparing allelic frequencies between 166 cases with chronic TMD and 1442 controls enrolled in the OPPERA (Orofacial Pain: Prospective Evaluation and Risk Assessment) study cooperative agreement. To enhance statistical power, 182 TMD cases and 170 controls from a similar study were included in the analysis. Genotyping was performed using the Pain Research Panel, an Affymetrix gene chip representing 3295 single nucleotide polymorphisms, including ancestry-informative markers that were used to adjust for population stratification. Adjusted associations between genetic markers and TMD case status were evaluated using logistic regression. The OPPERA findings provided evidence supporting previously-reported associations between TMD and two genes: HTR2A and COMT. Other genes were revealed as potential new genetic risk factors for TMD, including NR3C1, CAMK4, CHRM2, IFRD1, and GRK5. While these findings need to be replicated in independent cohorts, the genes potentially represent important markers of risk for TMD and they identify potential targets for therapeutic intervention. PMID:22074755

Association between prostate cancer and urinary calculi: a population-based study.

PubMed

Chung, Shiu-Dong; Liu, Shih-Ping; Lin, Herng-Ching

2013-01-01

Understanding the reasons underlying the emerging trend and the changing demographics of Asian prostate cancer (PC) has become an important field of study. This study set out to explore the possibility that urinary calculi (UC) and PC may share an association by conducting a case-control study on a population-based database in Taiwan. The cases of this study included 2,900 subjects ≥ 40 years-old who had received their first-time diagnosis of PC and 14,500 randomly selected controls without PC. Conditional logistic regressions were employed to explore the association between PC and having been previously diagnosed with UC. We found that prior UC was found among 608 (21.0%) cases and 2,037 (14.1%) controls (p<0.001). Conditional logistic regression analysis revealed that compared to controls, the odds ratio (OR) of prior UC for cases was 1.63 (95% CI = 1.47-1.80). Furthermore, we found that cases were more likely to have been previously diagnosed with kidney calculus (OR = 1.71; 95% CI = 1.42-2.05), bladder calculus (OR = 2.06; 95% CI = 1.32-3.23), unspecified calculus (OR = 1.66; 95% CI = 1.37-2.00), and ≥2 locations of UC (OR = 1.73; 1.47-2.02) than controls. However, there was no significant relationship between PC and prior ureter calculus. We also found that of the patients with UC, there was no significant difference between PC and treatment method. This investigation detected an association between PC and prior UC. These results highlight a potential target population for PC screening.

Is it all in the game? Flow experience and scientific practices during an INPLACE mobile game

NASA Astrophysics Data System (ADS)

Bressler, Denise M.

Mobile science learning games show promise for promoting scientific practices and high engagement. Researchers have quantified this engagement according to flow theory. Using an embedded mixed methods design, this study investigated whether an INPLACE mobile game promotes flow experience, scientific practices, and effective team collaboration. Students playing the game (n=59) were compared with students in a business-as-usual control activity (n=120). Using an open-ended instrument designed to measure scientific practices and a self-report flow survey, this study empirically assessed flow and learner's scientific practices. The game players had significantly higher levels of flow and scientific practices. Using a multiple case study approach, collaboration among game teams (n=3 teams) were qualitatively compared with control teams (n=3 teams). Game teams revealed not only higher levels of scientific practices but also higher levels of engaged responses and communal language. Control teams revealed lower levels of scientific practice along with higher levels of rejecting responses and command language. Implications for these findings are discussed.

Ongoing haemolytic uraemic syndrome (HUS) outbreak caused by sorbitol-fermenting (SF) Shiga toxin-producing Escherichia coli (STEC) O157, Germany, December 2016 to May 2017.

PubMed

Vygen-Bonnet, Sabine; Rosner, Bettina; Wilking, Hendrik; Fruth, Angelika; Prager, Rita; Kossow, Annelene; Lang, Christina; Simon, Sandra; Seidel, Juliane; Faber, Mirko; Schielke, Anika; Michaelis, Kai; Holzer, Alexandra; Kamphausen, Rolf; Kalhöfer, Daniela; Thole, Sebastian; Mellmann, Alexander; Flieger, Antje; Stark, Klaus

2017-05-25

We report an ongoing, protracted and geographically dispersed outbreak of haemolytic uraemic syndrome (HUS) and gastroenteritis in Germany, involving 30 cases since December 2016. The outbreak was caused by the sorbitol-fermenting immotile variant of Shiga toxin-producing (STEC) Escherichia coli O157. Molecular typing revealed close relatedness between isolates from 14 cases. One HUS patient died. Results of a case-control study suggest packaged minced meat as the most likely food vehicle. Food safety investigations are ongoing. This article is copyright of The Authors, 2017.

Web survey-based selection of controls for epidemiological analyses of a multi-prefectural outbreak of enterohaemorrhagic Escherichia coli O157 in Japan associated with consumption of self-grilled beef hanging tender.

PubMed

Yahata, Y; Ohshima, N; Odaira, F; Nakamura, N; Ichikawa, H; Matsuno, K; Shuri, J; Toyozawa, T; Terajima, J; Watanabe, H; Nakashima, K; Sunagawa, T; Taniguchi, K; Okabe, N

2018-03-01

An outbreak of enterohaemorrhagic Escherichia coli O157 occurred in multiple prefectures of Japan in November 2009. We conducted two case-control studies with trace-back and trace-forward investigations to determine the source. The case definition was met by 21 individuals; 14 (66.7%) were hospitalised, but no haemolytic uraemic syndrome, acute encephalopathy or deaths occurred. Median age was 23 (range 12-48) years and 14 cases were male (66.7%). No significant associations with food were found in a case-control study by local public health centres, but our matched case-control study using Internet surveys found that beef hanging tender (or hanger steak), derived from the diaphragm of the cattle, was significantly associated with illness (odds ratio = 15.77; 95% confidence interval, 2.00-124.11). Pulsed-field gel electrophoresis analysis of isolates from patients and the suspected food showed five different patterns: two in faecal and food samples, and another three in patient faecal samples only, although there were epidemiological links to the meat consumed at the restaurants. Trace-back investigation implicated a common food processing company from outside Japan. Examination of the logistics of the meat processing company suggested that contamination did not occur in Japan. We concluded that the source of the outbreak was imported hanging tender. This investigation revealed that Internet surveys could be useful for outbreak investigations.

Effect of Weight Losing on the Improving Clinical Statement of Patients With Knee Osteoarthritis.

PubMed

Sadeghi, Alireza; Rad, Zahra Abbaspour; Sajedi, Behnam; Heydari, Amir Hossein; Akbarieh, Samira; Jafari, Behzad

2017-11-01

Osteoarthritis causes severe pain and disability in joints, one of the most prevalent involved joints is the knee joint. There are several therapeutics ways to control pain and disability, but almost none of them are definite treatment. In this article, we tried to reveal the effect of weight loss on improving symptoms of knee osteoarthritis as an effective and permanent therapeutic approach. We chose 62 patients with grade 1-2 (mild to moderate) knee osteoarthritis and divided them equally into case and control groups. Patients should not had used NSAIDs at least for 6 months before study initiation. Symptoms severity was measured by WOMAC and VAS questionnaires before and after 3 months follow up. Weight and BMI were recorded too. Case group was suggested to have weight loss diet of less fat and carbohydrates and control group did not have any limitation. Comparison of variables' average of case and control groups was not logistically meaningful at the initiation and after the end of the study. But there was a meaningful correlation between variables' changes and lifestyle change in both groups, especially in WOMAC and VAS scores. All variables in case group had statistically meaningful differences between their amounts at the beginning and after the end of the study, on the contrary of the control group. In the comparison of our study with similar studies in the world. We deduced that weight loss can improve symptoms of knee osteoarthritis even in short time weight loss diet (3 months). ZUMS.REC.1394.94. Copyright © 2017. Publicado por Elsevier España, S.L.U.

Evaluation of optimal water fluoridation on the incidence and skeletal distribution of naturally arising osteosarcoma in pet dogs

PubMed Central

Rebhun, R. B.; Kass, P. H.; Kent, M. S.; Watson, K. D.; Withers, S. S.; Culp, W. T. N.; King, A.M.

2016-01-01

Experimental toxicological studies in laboratory animals and epidemiological human studies have reported a possible association between water fluoridation and osteosarcoma (OSA). To further explore this possibility, a case-control study of individual dogs evaluated by the UC Davis Veterinary Medical Teaching Hospital was conducted using ecologic data on water fluoridation based on the owner’s residence. The case group included 161 dogs with OSA diagnosed between 2008–2012. Two cancer control groups included dogs diagnosed with lymphoma (LSA) or hemangiosarcoma (HSA) during the same period (n = 134 and n = 145, respectively). Dogs with OSA were not significantly more likely to live in an area with optimized fluoride in the water than dogs with LSA or HSA. Additional analyses within OSA patients also revealed no significant differences in age, or skeletal distribution of OSA cases relative to fluoride status. Taken together, these analyses do not support the hypothesis that optimal fluoridation of drinking water contributes to naturally occurring OSA in dogs. PMID:26762869

Evaluation of optimal water fluoridation on the incidence and skeletal distribution of naturally arising osteosarcoma in pet dogs.

PubMed

Rebhun, R B; Kass, P H; Kent, M S; Watson, K D; Withers, S S; Culp, W T N; King, A M

2017-06-01

Experimental toxicological studies in laboratory animals and epidemiological human studies have reported a possible association between water fluoridation and osteosarcoma (OSA). To further explore this possibility, a case-control study of individual dogs evaluated by the UC Davis Veterinary Medical Teaching Hospital was conducted using ecologic data on water fluoridation based on the owner's residence. The case group included 161 dogs with OSA diagnosed between 2008-2012. Two cancer control groups included dogs diagnosed with lymphoma (LSA) or hemangiosarcoma (HSA) during the same period (n = 134 and n = 145, respectively). Dogs with OSA were not significantly more likely to live in an area with optimized fluoride in the water than dogs with LSA or HSA. Additional analyses within OSA patients also revealed no significant differences in age, or skeletal distribution of OSA cases relative to fluoride status. Taken together, these analyses do not support the hypothesis that optimal fluoridation of drinking water contributes to naturally occurring OSA in dogs. © 2016 John Wiley & Sons Ltd.

The role of phthalate esters in autism development: A systematic review.

PubMed

Jeddi, Maryam Zare; Janani, Leila; Memari, Amir Hossein; Akhondzadeh, Shahin; Yunesian, Masud

2016-11-01

Available evidence implicates environmental factors in the pathogenesis of autism spectrum disorders (ASD). However, the role of specific environmental chemicals such as phthalate esters that influence ASD risk remains elusive. This paper systematically reviews published evidences on association between prenatal and/or childhood exposure to phthalate and ASD. Studies pertaining to systematic literature search from Scopus, PubMed, PsycInfo and Web of Science prior to December 2015 were identified. The authors included studies which assessed the effect of exposure to phthalates on occurrence of ASD. This comprehensive bibliographic search identified five independent studies. Each eligible paper was summarized with respect to its methods and results with particular attention to study design and exposure assessment. Because of the heterogeneity in the type of included studies, different methods of assessing exposure to phthalates and the use of different statistics for summarizing the results, meta-analysis could not be used to combine the results of included studies. The results of this systematic review have revealed the limited number of studies conducted and assessed phthalate exposure. Seven studies were regarded as relevant to the objectives of this review. Two of them did not measure phthalate exposure directly and did not result in quantitative results. Out of the five studies in which phthalate exposure was mainly measured by the examining biomarkers in biological samples, two were cohort studies (one with positive results and another one with not clear association). Among the three case control studies, two of them showed a significant relation between exposure to phthalate and ASD and the last case control study had negative results. Indeed, this case control studies showed a compromised phthalate metabolite glucuronidation pathway, as a probable explanation of mechanism of the relation between phthalate exposure and ASD. This review reveals evidence showing a connection between exposure to phthalates and ASD. Nevertheless, further research is needed with appropriate attention to exposure assessment and relevant pre and post-natal cofounders. Copyright © 2016 Elsevier Inc. All rights reserved.

Simultaneous detection of periodontal pathogens in subgingival plaque and placenta of women with hypertension in pregnancy.

PubMed

Swati, P; Thomas, Betsy; Vahab, Saadi Abdul; Kapaettu, Satyamoorthy; Kushtagi, Pralhad

2012-03-01

There are many studies documenting increased prevalence of periodontal infection in women with preeclampsia. But, very few studies have attempted to establish causal relationship between the two. To find out causal circumstantial evidence by isolating specific periodontal pathogens in oral and placental samples. Antenatal periodontal screening and subgingival plaque collection was carried out in ten women with hypertension in pregnancy and ten normotensive controls on their hospital admission at term for cesarean delivery. Placental biopsy was obtained after aseptic placental collection at the time of elective cesarean delivery. Subgingival plaque and placental biopsy were studied for Porphyromonas gingivalis, Fusobacterium nucleatum, Treponema denticola, Prevotella intermedia and Aggregatibacter actinomycetemcomitans using quantitative polymerase chain reaction technique. Periodontist and laboratory personnel were unaware of case or control status. Periodontal status was not informed to the obstetrician recruiting the cases and laboratory. Microbiology report was not revealed till end of the study. Periodontal pathogens were found to be high in the group with hypertension than the controls. P gingivalis was found in all the samples from subgingival plaque and placenta, irrespective of the periodontal disease status. In cases with hypertension, periodontal pathogens are present in higher proportion in subgingival plaque and placenta.

Alcohol consumption and lung cancer risk in never smokers: a pooled analysis of case-control studies.

PubMed

García Lavandeira, José A; Ruano-Ravina, Alberto; Kelsey, Karl T; Torres-Durán, María; Parente-Lamelas, Isaura; Leiro-Fernández, Virginia; Zapata, Maruxa; Abal-Arca, José; Vidal-García, Iria; Montero-Martínez, Carmen; Amenedo, Margarita; Castro-Añón, Olalla; Golpe-Gómez, Antonio; Guzmán-Taveras, Rosirys; Martínez, Cristina; Provencio, Mariano; Mejuto-Martí, María J; García-García, Silvia; Fernández-Villar, Alberto; Piñeiro, María; Barros-Dios, Juan M

2018-06-01

Lung cancer is the deadliest cancer in developed countries but the etiology of lung cancer risk in never smokers (LCRINS) is largely unknown. We aim to assess the effects of alcohol consumption, in its different forms, on LCRINS. We pooled six multi-center case-control studies developed in the northwest of Spain. Cases and controls groups were composed of never smokers. We selected incident cases with anatomopathologically confirmed lung cancer diagnoses. All participants were personally interviewed. We performed two groups of statistical models, applying unconditional logistic regression with generalized additive models. One considered the effect of alcohol type consumption and the other considered the quantity of each alcoholic beverage consumed. A total of 438 cases and 863 controls were included. Median age was 71 and 66, years, respectively. Adenocarcinoma was the predominant histological type, comprising 66% of all cases. We found that any type of wine consumption posed an OR of 2.20 OR 95%CI 1.12-4.35), and spirits consumption had an OR of 1.90 (95%CI 1.13-3.23). Beer consumption had an OR of 1.33 (95%CI 0.82-2.14). These results were similar when women were analyzed separately, but for men there was no apparent risk for any alcoholic beverage. The dose-response analysis for each alcoholic beverage revealed no clear pattern. Wine and spirits consumption might increase the risk of LCRINSs, particularly in females. These results have to be taken with caution given the limitations of the present study.

Preeclampsia and toxic metals: a case-control study in Kinshasa, DR Congo.

PubMed

Elongi Moyene, Jean-Pierre; Scheers, Hans; Tandu-Umba, Barthélémy; Haufroid, Vincent; Buassa-Bu-Tsumbu, Baudouin; Verdonck, Fons; Spitz, Bernard; Nemery, Benoit

2016-04-05

Preeclampsia is frequent in Kinshasa (Democratic Republic of Congo), especially during the dry season. We tested whether preeclampsia was associated with exposure to environmental metals. Using a case-control design, 88 women hospitalized with preeclampsia (cases) and 88 healthy pregnant women from the antenatal clinic (controls) were included in the study; 67 and 109 women were enrolled during the rainy and dry season, respectively. The concentrations of 24 elements were quantified by inductively coupled plasma mass spectrometry (ICP-MS) in 24-h urine collections. Differences in the urinary excretion of metals were investigated between cases and controls, and the interaction with season was assessed. Cases and controls were well matched regarding age, parity and duration of pregnancy. In controls, the urinary concentrations of most elements were substantially higher than reference values for adults from industrially developed countries, e.g. for lead: geometric mean (GM) 8.0 μg/L [25(th)-75(th) percentile 3.1-13.8]. The daily urinary excretions of 14 metals were significantly higher in women with preeclampsia than in control women, e.g. for lead: GM 61 μg/day (25(th)-75(th) percentile 8-345) in women with preeclampsia vs 9 μg/day (25(th)-75(th) percentile 3-21) in controls (p < 0.001). A significant interaction was found between season and preeclampsia for several elements, with higher urinary excretions in preeclamptic women than controls during the dry season, but not during the rainy season. This study revealed not only that women with preeclampsia excrete higher amounts of several toxic metals, especially lead, than control women, but also that this excretion exhibits seasonal variation, thus possibly explaining the high incidence and seasonal variation of preeclampsia in Kinshasa. Although the exact sources of this exposure are unknown, these findings underscore the need for preventing environmental exposures to lead and other toxic metals.

A prolonged, community-wide cholera outbreak associated with drinking water contaminated by sewage in Kasese District, western Uganda.

PubMed

Kwesiga, Benon; Pande, Gerald; Ario, Alex Riolexus; Tumwesigye, Nazarius Mbona; Matovu, Joseph K B; Zhu, Bao-Ping

2017-07-18

In May 2015, a cholera outbreak that had lasted 3 months and infected over 100 people was reported in Kasese District, Uganda, where multiple cholera outbreaks had occurred previously. We conducted an investigation to identify the mode of transmission to guide control measures. We defined a suspected case as onset of acute watery diarrhoea from 1 February 2015 onwards in a Kasese resident. A confirmed case was a suspected case with Vibrio cholerae O1 El Tor, serotype Inaba cultured from a stool sample. We reviewed medical records to find cases. We conducted a case-control study to compare exposures among confirmed case-persons and asymptomatic controls, matched by village and age-group. We conducted environmental assessments. We tested water samples from the most affected area for total coliforms using the Most Probable Number (MPN) method. We identified 183 suspected cases including 61 confirmed cases of Vibrio cholerae 01; serotype Inaba, with onset between February and July 2015. 2 case-persons died of cholera. The outbreak occurred in 80 villages and affected all age groups; the highest attack rate occurred in the 5-14 year age group (4.1/10,000). The outbreak started in Bwera Sub-County bordering the Democratic Republic of Congo and spread eastward through sustained community transmission. The first case-persons were involved in cross-border trading. The case-control study, which involved 49 confirmed cases and 201 controls, showed that 94% (46/49) of case-persons compared with 79% (160/201) of control-persons drank water without boiling or treatment (OR M-H =4.8, 95% CI: 1.3-18). Water collected from the two main sources, i.e., public pipes (consumed by 39% of case-persons and 38% of control-persons) or streams (consumed by 29% of case-persons and 24% control-persons) had high coliform counts, a marker of faecal contamination. Environmental assessment revealed evidence of open defecation along the streams. No food items were significantly associated with illness. This prolonged, community-wide cholera outbreak was associated with drinking water contaminated by faecal matter and cross-border trading. We recommended rigorous disposal of patients' faeces, chlorination of piped water, and boiling or treatment of drinking water. The outbreak stopped 6 weeks after these recommendations were implemented.

Exhaled breath temperature increases during mild exacerbations in children with virus-induced asthma.

PubMed

Xepapadaki, P; Xatziioannou, A; Chatzicharalambous, M; Makrinioti, H; Papadopoulos, N G

2010-01-01

Exhaled breath temperature (EBT) has been suggested as a non-invasive surrogate marker of airway inflammation in asthma. The aim of the study was to evaluate differences in EBT between periods of controlled disease and during exacerbations in children with virus-induced asthma. Twenty-nine children (aged 6-14 years) with a history of intermittent, virus-induced asthma were included in this case-control study. Cases presented with a common cold and/or mild exacerbation of asthma, while controls were free of asthmatic or common cold symptoms during the previous 6 weeks. A baseline questionnaire was obtained. Atopy assessment, central temperature and a spirometric measurement were recorded. EBT was measured with a new device (Delmedica, Singapore). A nasal wash (for identification of common respiratory viruses) was obtained. Twenty-four children (12 from each group) completed the study. Groups were homogeneous with respect to baseline characteristics. PCR revealed the presence of a virus in 3 out of 17 controls and 10 out of 12 cases (17.6 and 83.3%, respectively, p = 0.002). The most commonly identified virus was rhinovirus (3/3 controls and 7/10 cases, p = 0.02). EBT values were significantly higher for cases (34.91 +/- 0.62 degrees C) compared to controls (34.18 +/- 1.1 degrees C, p = 0.032). No important differences were observed in the increase rate of EBT (Deltae degrees T) between groups. Changes in airway inflammation during virus-induced asthma exacerbations are reflected in EBT changes. These preliminary data suggest a possible role of EBT measurements in the assessment of airway inflammation in children with virus-induced asthma. Copyright (c) 2010 S. Karger AG, Basel.

BRUCELLOSIS IN TEREKEKA COUNTY, CENTRAL EQUATORIA STATE, SOUTHERN SUDAN.

PubMed

Lado, D; Maina, N; Lado, M; Abade, A; Amwayi, S; Omolo, J; Oundo, J

2012-01-01

To identify factors associated with Brucellosis in patients attending Terekeka Health Facility, Terekeka County, Central Equatoria State, Southern Sudan and to evaluate the utility of the rapid test kit Euracil®. A facility based case-control study. Terekeka Health Facility, Terekeka County, Central Equatoria State, Southern Sudan. Cases were patients presenting at the Terekeka Health Facility with clinical symptoms suggestive of Brucellosis and tested positive for Brucellosis by rapid antigen test while controls were selected from individuals attending Terekeka Health facility with health problems unrelated to brucellosis or febrile illness. A total of fifty eight cases with clinical symptoms suggestive of and tested positive for Brucellosis by rapid antigen test presented. A total of 116 consented controls were recruited into the study. Males accounted for 52% of the cases and 53% of the controls. The mean age was 31 years for both groups. Cases without formal education were 84% while 40% had no source of income, 20% of the cases and 14% of the controls were cattle keepers while 5% of the cases and 13% of the controls were students. In multivariate analysis there were many factors associated with Brucellosis like consumption of raw meat, living with animals at the same place, raising of goats, farm cleaning contact, eating of aborted and wild animals. Logistic regression revealed two factors associated with the disease; consumption of raw milk (OR=3.9, P-value 0.001, 95% CI 1.6666-9.0700) was a risk factor while drinking boiled milk was protective (OR = 0.09, p-value 0.000, 95% CI, 0.1-0.2). The main age-groups affected were 20-30 years with males being affected more than females. Drinking of raw milk was significantly associated with Brucellosis while drinking boiled milk was protective. There should be active public health education on the benefits of boiling milk before consumption. Further studies to elucidate the extent and epidemiology of brucellosis in humans and animals in Southern Sudan are recommended.

Virulence factors of Candida species isolated from patients with urinary tract infection and obstructive uropathy

PubMed Central

Alenzi, Faris Q.B.

2016-01-01

Objective: Fungal urinary tract infections due to Candida have increased significantly in recent years. Our research objective was to study Candida species in urine samples of patients with urinary tract infections (UTIs) associated with obstructive uropathy and to investigate the virulence factors of the isolated Candida. Methods: Patients were divided into two groups: Group I (cases): 50 patients with UTIs and obstructive uropathy. Group II (control): 50 patients with UTIs but with no functional or anatomical obstruction of their urinary tract. Clinical histories and physical examinations, together with laboratory investigations of urine samples were carried out in all patients in this study. Mid stream urine samples were examined microscopically and by fungal cell culture. The isolated Candida species were identified by analytical profile index (API). Candida Virulence factors were determined for the isolated Candida. The susceptibility to fluconazole was evaluated. Results: This study revealed an overall isolation rate of 27% of Candida species among all patient groups. The rate was 36% in cases, and 18% in controls, a difference found to be statistically significant (P<0.05). By API, C.albicans was detected in 44% of Candida species in cases, and in 33% in controls. While C.glabrata was detected in 28% of Candida species in cases, and in 22% in controls. C.tropicalis was detected in 17% of Candida species in cases, and in 22% in controls. Both C.krusei and C.kyfr were detected in 5.5% of Candida species in cases, and in 11% in controls. In terms of virulence factors the study showed that 11 out of 27 (40.5%) of Candida isolates were biofilm positive by tube adherence. Phospholipase activity was demonstrated in 12 out of 27 (44.5%) of Candida isolates. Secretory aspartic proteinase activity was demonstrated in 13 out of 27 (48%) of the Candida isolates. Conclusion: Candida is an important cause of UTIs and obstructive uropathy is a major predisposing factor. PMID:27022363

Clinical effects of internal fixation for ulnar styloid fractures associated with distal radius fractures: A matched case-control study.

PubMed

Sawada, Hideyoshi; Shinohara, Takaaki; Natsume, Tadahiro; Hirata, Hitoshi

2016-11-01

Ulnar styloid fractures are often associated with distal radius fractures. However, controversy exists regarding whether to treat ulnar styloid fractures. This study aimed to evaluate clinical effects of internal fixation for ulnar styloid fractures after distal radius fractures were treated with the volar locking plate system. We used prospectively collected data of distal radius fractures. 111 patients were enrolled in this study. A matched case-control study design was used. We selected patients who underwent fixation for ulnar styloid fractures (case group). Three control patients for each patient of the case group were matched on the basis of age, sex, and fracture type of distal radius fractures from among patients who did not undergo fixation for ulnar styloid fractures (control group). The case group included 16 patients (7 men, 9 women; mean age: 52.6 years; classification of ulnar styloid fractures: center, 3; base, 11; and proximal, 2). The control group included 48 patients (15 men, 33 women; mean age: 61.1 years; classification of ulnar styloid fractures: center, 10; base, 31; and proximal, 7). For radiographic examination, the volar tilt angle, radial inclination angle, and ulnar variance length were measured, and the union of ulnar styloid fractures was judged. For clinical examination, the range of motions, grip strength, Hand20 score, and Numeric Rating Scale score were evaluated. There was little correction loss for each radiological parameter of fracture reduction, and these parameters were not significantly different between the groups. The bone-healing rate of ulnar styloid fractures was significantly higher in the case group than in the control group, but the clinical results were not significantly different. We revealed that there was no need to fix ulnar styloid fractures when distal radius fractures were treated via open reduction and internal fixation with a volar locking plate system. Copyright © 2016 The Japanese Orthopaedic Association. Published by Elsevier B.V. All rights reserved.

Altered Growth Trajectory of Head Circumference During Infancy and Schizophrenia in a National Birth Cohort

PubMed Central

Brown, Alan S.; Gyllenberg, David; Hinkka-Yli-Salomäki, Susanna; Sourander, Andre; McKeague, Ian W.

2016-01-01

Identification of abnormalities in the developmental trajectory during infancy of future schizophrenia cases offers the potential to reveal pathogenic mechanisms of this disorder. Previous studies of head circumference in pre-schizophrenia were limited to measures at birth. The use of growth acceleration of head circumference (defined as the rate of change in head circumference) provides a more informative representation of the maturational landscape of this measure compared to studies based on static head circumference measures. To date, however, no study has examined whether HC growth acceleration differs between pre-schizophrenia cases and controls. In the present study, we employed a nested case control design of a national birth cohort in Finland. Cases with schizophrenia or schizoaffective disorder (N=375) and controls (N=375) drawn from the birth cohort were matched 1:1 on date of birth (within 1 month), sex, and residence in Finland at case diagnosis. Longitudinal data were obtained on head circumference from birth through age 1. Data were analyzed using a new nonparametric Bayesian inversion method which allows for a detailed understanding of growth dynamics. Adjusting for growth velocity of height and weight, and gestational age, there was significantly accelerated growth of head circumference in females with schizophrenia from birth to 2 months; the findings remained significant following Bonferroni correction (p < 0.0125). This is the first study to report abnormal HC growth acceleration, a more sensitive measure of somatic developmental deviation of this measure, in schizophrenia. PMID:27818077

Case Study of a Spinal Epidural Capillary Hemangioma: A 4-Year Postoperative Follow-Up

PubMed Central

Seferi, Arsen; Alimehmeti, Ridvan; Vyshka, Gentian; Bushati, Teona; Petrela, Mentor

2013-01-01

Study Design Case study. Objectives We report the case of a 58-year-old Caucasian man, who presented with a 4-month history of increasing low back pain and gait difficulty. Objective neurologic examination revealed a severe paraparetic symptomatology without any sphincter involvement. Methods Spinal magnetic resonance imaging (MRI) showed an extradural mass formation situated dorsally at the level of thoracic vertebrae T2 to T4. Results A laminectomy was performed with total removal of the mass; histology suggested a highly vascularized lesion with lobular architecture, which seems a very rare case, compatible with a capillary hemangioma. Conclusions A careful follow-up for the next 4 years, including control MRIs every postoperative year, showed a very good neurologic condition of the patient and no recurrence on imaging findings. PMID:24494182

Association of tagSNPs in the urokinase-plasminogen activator (PLAU) gene with Alzheimer's disease and associated quantitative traits.

PubMed

Ozturk, Ayla; Minster, Ryan L; DeKosky, Steven T; Kamboh, M Ilyas

2007-01-05

The gene coding for urokinase-plasminogen activator (PLAU) is a strong biological and positional candidate gene for Alzheimer's disease (AD). Previously some studies have examined the role of common variation in the PLAU gene with AD risk but the results have been inconsistent and this inconsistency could have been due to the use of relatively small sample sizes. In this study we evaluated the distribution of four tagSNPs (rs2227562 in intron 5, rs2227564 in exon 6, rs2227571 in intron 9, and rs4065 in 3'UTR) in the PLAU gene in a large case-control study consisting of up to 1,000 AD patients and 697 white control subjects. We examined the role of these tagSNPs with AD risk and quantitative traits of AD, including age-at-onset (AAO), disease duration, and mini-mental state examination (MMSE) scores. The 3'UTR SNP revealed modest significant association with risk (OR = 0.71, 95% CI: 0.53-0.95; P = 0.02), AAO (P = 0.036) and disease duration (P = 0.04) of AD. In addition, the intron 9 SNP also revealed a significant association with AAO (P = 0.01) and disease duration (P = 0.006). Our data on a large number of AD cases and controls suggest that genetic variation in PLAU may affect the risk and AAO of AD.

[The influence of the organizational structure on the internal controls of a foundation for cancer research, prevention and care in the interior of the state of São Paulo, Brazil].

PubMed

Bonacim, Carlos Alberto Grespam; Salgado, André Luís; Girioli, Lumila Souza; de Araujo, Adriana Maria Procópio

2011-05-01

This work focuses on a discussion about the extent to which the level of organizational structure interferes in the internal control practices of non-governmental organizations (NGOs), especially those related to health. The objective of this work was to observe the efficiency of the internal control tests applied within the organizational structure of the Foundation for Cancer Research, Prevention and Care, checking the reliability of the accounting records and operational controls. A case study in a third sector health organization was the chosen methodology. The case study involved company interviews and the analysis of confidential reports. After an evaluation of the organizational structure (of the relations between officials and volunteers) and the application of evaluation proceedings on the quality of the internal controls, the extent to which the organizational structure interferes with the internal control practices of the hospital was assessed. It was revealed that there are structured mechanisms of control in the institution, however the implementation of these controls is inadequately performed. It was further detected that the level of the organizational structure does indeed interfere in internal control practices at the entity.

A case-control analysis on the association between erectile dysfunction and sudden sensorineural hearing loss in Taiwan.

PubMed

Keller, Joseph J; Chen, Yi-Kuang; Lin, Herng-Ching

2012-05-01

Although the cause of sudden sensorineural hearing loss (SSNHL) is yet to be elucidated, many theories have been proposed regarding potentially contributory etiologies. One increasingly well-supported theory purports an underlying vascular pathomechanism. If this is the case, SSNHL may also associate with conditions comorbid with vascular diseases, such as erectile dysfunction (ED). However, no studies to date have investigated the association between ED and SSNHL. This study set out to estimate a putative association between ED and having been previously diagnosed with SSNHL using a population-based dataset with a case-control design. This study used administrative claim data from the Taiwan National Health Insurance program. We identified 4,504 patients with ED as the study group and randomly selected 22,520 patients as the comparison group. Conditional logistic regression was used to examine the association between ED and having previously received a diagnosis of SSNHL. The prevalence and risk of SSNHL between cases and controls were calculated. Of the sampled patients, 41 (0.15%) had been diagnosed with SSNHL before the index date; 22 (0.49% of the cases) were from the study group and 19 (0.08% of controls) were from the control group. Conditional logistic regression analysis revealed that after adjusting for the patient's monthly income, geographic location, hypertension, diabetes, hyperlipidemia, coronary heart disease, obesity, and alcohol abuse/alcohol dependence syndrome status, patients with ED were more likely than controls to have been diagnosed with SSNHL before the index date (odds ratio = 6.06, 95% confidence interval = 3.25-11.29). There was an association between ED and prior SSNHL. The results of this study add to the evidence supporting an underlying vascular pathomechanism regarding the development of SSNHL and highlight a need for clinicians dealing with SSNHL patients to be alert to the development of ED. © 2012 International Society for Sexual Medicine.

Comparative assessment of the prevalence of periodontal disease in subjects with and without systemic autoimmune diseases: A case-control study.

PubMed

Ramesh Kumar, S G; Aswath Narayanan, M B; Jayanthi, D

2016-01-01

Immune mechanism shares a common pathway both for systemic autoimmune diseases and periodontal diseases. Scientific exploration of literature revealed limited studies on the association between systemic autoimmune diseases and periodontal diseases in India. The aim of the study is to find whether the presence of systemic autoimmune diseases in an individual is a risk factor for the development of periodontal disease. This was a hospital-based case-control study. A sample of 253 patients with systemic autoimmune diseases, attending the Rheumatology Department of Government General Hospital, Chennai-3, and 262 patients without systemic autoimmune diseases, attending the outpatient department of the Tamil Nadu Government Dental College and Hospital, Chennai-3, constituted the case and control groups, respectively. Age, gender, and oral hygiene status matching was done. Oral hygiene status was assessed using oral hygiene index (OHI) and periodontal status was assessed using community periodontal index (CPI) and loss of attachment (LOA) index. Statistical analysis was done using SPSS version 15 (SPSS Inc, 2006, Chicago). Results showed 99.2% and 73.9% prevalence of gingivitis and periodontitis, respectively, in the case group as compared to 85.5% and 14.9%, respectively, in the control group. There is no linear relationship between OHI scores and prevalence of periodontitis (CPI and LOA scores) in the case group. Patients suffering from systemic autoimmune diseases showed more prevalence of periodontal diseases irrespective of oral hygiene scores. It is postulated that the presence of systemic autoimmune diseases may pose a risk for the development of periodontal diseases.

Inertial Response of Wind Power Plants: A Comparison of Frequency-Based Inertial Control and Stepwise Inertial Control

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

Wang, Xiao; Gao, Wenzhong; Wang, Jianhui

The frequency regulation capability of a wind power plant plays an important role in enhancing frequency reliability especially in an isolated power system with high wind power penetration levels. A comparison of two types of inertial control methods, namely frequency-based inertial control (FBIC) and stepwise inertial control (SIC), is presented in this paper. Comprehensive case studies are carried out to reveal features of the different inertial control methods, simulated in a modified Western System Coordination Council (WSCC) nine-bus power grid using real-time digital simulator (RTDS) platform. The simulation results provide an insight into the inertial control methods under various scenarios.

Impact of traffic oscillations on freeway crash occurrences.

PubMed

Zheng, Zuduo; Ahn, Soyoung; Monsere, Christopher M

2010-03-01

Traffic oscillations are typical features of congested traffic flow that are characterized by recurring decelerations followed by accelerations (stop-and-go driving). The negative environmental impacts of these oscillations are widely accepted, but their impact on traffic safety has been debated. This paper describes the impact of freeway traffic oscillations on traffic safety. This study employs a matched case-control design using high-resolution traffic and crash data from a freeway segment. Traffic conditions prior to each crash were taken as cases, while traffic conditions during the same periods on days without crashes were taken as controls. These were also matched by presence of congestion, geometry and weather. A total of 82 cases and about 80,000 candidate controls were extracted from more than three years of data from 2004 to 2007. Conditional logistic regression models were developed based on the case-control samples. To verify consistency in the results, 20 different sets of controls were randomly extracted from the candidate pool for varying control-case ratios. The results reveal that the standard deviation of speed (thus, oscillations) is a significant variable, with an average odds ratio of about 1.08. This implies that the likelihood of a (rear-end) crash increases by about 8% with an additional unit increase in the standard deviation of speed. The average traffic states prior to crashes were less significant than the speed variations in congestion. Published by Elsevier Ltd.

Canadian mock juror attitudes and decisions in domestic violence cases involving asian and white interracial and intraracial couples.

PubMed

Maeder, Evelyn M; Mossière, Annik; Cheung, Liann

2013-03-01

This study manipulated the race of the defendant and the victim (White/White, White/Asian, Asian/Asian, and Asian/White) in a domestic violence case to examine the potential prejudicial impact of race on juror decision making. A total of 181 undergraduate students read a trial transcript involving an allegation of spousal abuse in which defendant and victim race were manipulated using photographs. They then provided a verdict and confidence rating, a sentence, and responsibility attributions, and completed various scales measuring attitudes toward wife abuse and women. Findings revealed that female jurors were harsher toward the defendant than were male jurors. When controlling for attitudes toward Asians, jurors found the defendant guilty more often in cases involving interracial couples, as compared to same-race couples. Path analyses revealed various factors and attitudes involved in domestic violence trial outcomes. Findings contribute to the scarce literature on legal proceedings involving Asians, particularly in domestic violence cases. Outcomes also provide a model for relevant factors and characteristics of jurors in domestic violence cases. Roadblocks inherent in jury research are also discussed.

Paternal psychosocial work conditions and mental health outcomes: a case-control study.

PubMed

Maggi, Stefania; Ostry, Aleck; Tansey, James; Dunn, James; Hershler, Ruth; Chen, Lisa; Hertzman, Clyde

2008-03-31

The role of social and family environments in the development of mental health problems among children and youth has been widely investigated. However, the degree to which parental working conditions may impact on developmental psychopathology has not been thoroughly studied. We conducted a case-control study of several mental health outcomes of 19,833 children of sawmill workers and their association with parental work stress, parental socio-demographic characteristics, and paternal mental health. Multivariate analysis conducted with four distinct age groups (children, adolescents, young adults, and adults) revealed that anxiety based and depressive disorders were associated with paternal work stress in all age groups and that work stress was more strongly associated with alcohol and drug related disorders in adulthood than it was in adolescence and young adulthood. This study provides support to the tenet that being exposed to paternal work stress during childhood can have long lasting effects on the mental health of individuals.

Disease-Concordant Twins Empower Genetic Association Studies.

PubMed

Tan, Qihua; Li, Weilong; Vandin, Fabio

2017-01-01

Genome-wide association studies with moderate sample sizes are underpowered, especially when testing SNP alleles with low allele counts, a situation that may lead to high frequency of false-positive results and lack of replication in independent studies. Related individuals, such as twin pairs concordant for a disease, should confer increased power in genetic association analysis because of their genetic relatedness. We conducted a computer simulation study to explore the power advantage of the disease-concordant twin design, which uses singletons from disease-concordant twin pairs as cases and ordinary healthy samples as controls. We examined the power gain of the twin-based design for various scenarios (i.e., cases from monozygotic and dizygotic twin pairs concordant for a disease) and compared the power with the ordinary case-control design with cases collected from the unrelated patient population. Simulation was done by assigning various allele frequencies and allelic relative risks for different mode of genetic inheritance. In general, for achieving a power estimate of 80%, the sample sizes needed for dizygotic and monozygotic twin cases were one half and one fourth of the sample size of an ordinary case-control design, with variations depending on genetic mode. Importantly, the enriched power for dizygotic twins also applies to disease-concordant sibling pairs, which largely extends the application of the concordant twin design. Overall, our simulation revealed a high value of disease-concordant twins in genetic association studies and encourages the use of genetically related individuals for highly efficiently identifying both common and rare genetic variants underlying human complex diseases without increasing laboratory cost. © 2016 John Wiley & Sons Ltd/University College London.

Association of tobacco use and other determinants with pregnancy outcomes: a multicentre hospital-based case-control study in Karachi, Pakistan.

PubMed

Rozi, Shafquat; Butt, Zahid Ahmad; Zahid, Nida; Wasim, Saba; Shafique, Kashif

2016-09-20

The study aimed to identify the effects of maternal tobacco consumption during pregnancy and other factors on birth outcomes and obstetric complications in Karachi, Pakistan. A multicentre hospital-based case-control study. Four leading maternity hospitals of Karachi. A random sample of 1275 women coming to the gynaecology and obstetric department of selected hospitals for delivery was interviewed within 48 hours of delivery from wards. Cases were women with adverse birth outcomes and obstetric complications, while controls were women who had normal uncomplicated delivery. Adverse birth outcomes (preterm delivery, low birth weight, stillbirth, low Apgar score) and obstetric complications (antepartum haemorrhage, caesarean section, etc). Final multiple logistic regression analysis revealed that with every 1 year increase in age the odds of being a case was 1.03 times as compared with being a control. Tobacco use (adjusted OR (aOR): 2.24; 95% CI 1.56 to 3.23), having no slits in the kitchen (proxy indicator for indoor air pollution) (aOR=1.90; 95% CI 1.05 to 3.43), gravidity (aOR=0.83; 95% CI 0.73 to 0.93), non-booked hospital cases (aOR=1.87; 95% CI 1.38 to 2.74), history of stillbirth (aOR=4.06; 95% CI 2.36 to 6.97), miscarriages (aOR=1.91; 95% CI 1.27 to 2.85) and preterm delivery (aOR=6.04; 95% CI 2.52 to 14.48) were significantly associated with being a case as compared with control. This study suggests that women who had adverse pregnancy outcomes were more likely to have exposure to tobacco, previous history of adverse birth outcomes and were non-booked cases. Engagement of stakeholders in tobacco control for providing health education, incorporating tobacco use in women in the tobacco control policy and designing interventions for tobacco use cessation is warranted. Prenatal care and health education might help in preventing such adverse events. 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/

Quality of Diagnosis and Treatment Plans After Using the 'Diagnostic Guideline for Anxiety and Challenging Behaviours' in People with Intellectual Disabilities: A Comparative Multiple Case Study Design.

PubMed

Pruijssers, Addy; van Meijel, Berno; Maaskant, Marian; Keeman, Noortje; van Achterberg, Theo

2016-07-01

People with intellectual disabilities often have a multitude of concurrent problems due to the combination of cognitive impairments, psychiatric disorders (particularly anxiety) and related challenging behaviours. Diagnoses in people with intellectual disabilities are complicated. This study evaluates the quality of the diagnoses and treatment plans after using a guideline that was developed to support professionals in their diagnostic tasks. A comparative multiple case study with an experimental and control condition, applying deductive analyses of diagnoses and treatment plans. The analyses revealed that the number of diagnostic statements and planned treatment actions in the experimental group was significantly larger and more differentiated than in the control condition. In the control group, consequential harm and protective factors were hardly mentioned in diagnoses and treatment plans. Working with the 'Diagnostic Guideline for Anxiety and CB' leads to improved diagnoses and treatment plans compared with care as usual. © 2015 John Wiley & Sons Ltd.

HPV-associated head and neck cancers in the Asia Pacific: A critical literature review & meta-analysis.

PubMed

Shaikh, Mushfiq Hassan; McMillan, Nigel A J; Johnson, Newell W

2015-12-01

Malignancies of the upper aero-digestive tract are a major public health problem, especially in the Asia Pacific. Certain Human papillomaviruses (HPVs) are well-established risk factors for carcinoma of the uterine cervix and for a subset of head and neck carcinomata: however their true importance in different populations and anatomical subsites remains unclear. The major risk factors in Asia Pacific remain smoked/smokeless tobacco, areca nut, alcohol abuse and poor diet, with limited evidence for HPVs. We review published studies of association of HPV with anatomical site-specific Head & Neck Squamous Cell Carcinoma (HNSCC) in these populations and attempt a meta-analysis. From MEDLINE/PubMed/WEB-of SCIENCE/EMBASE/Scopus databases we found 67 relevant studies with a total of 7280 cases: 15 case-control studies met our inclusion criteria for meta-analysis, totaling 1106 cases & 638 controls. HPV detection rates, sample site and size, and methods of tissue preservation and HPV detection were tabulated for each study. Studies were heterogeneous in terms of sample selection and method of detection of HPVs. Most were of limited quality. Averaging data from 67 studies of HNSCC, the prevalence of HPV of any subtype is approximately 36%. PCR (polymerase chain reaction) was the most used detection method and HPV16 the most common genotype reported. Meta-analyses of case-control studies from this region reveal significant heterogeneity but suggest higher HPV prevalence in oropharyngeal cancer (OR: 14.66; 95%CI: 6.09-35.26) compared to oral cavity cancer and laryngeal cancer; (OR: 4.06; 95%CI: 3.05-5.39 & OR: 3.23; 95%CI: 1.37-7.61) respectively. In view of the significant association of HPV with HNSCC, studies with accurate subsite classification and more sensitive detection methods are necessary. Accurate data from this geographical region are essential to inform public health policies and treatment decisions, especially as studies from Europe and North America reveal HPV-driven cancers to be less aggressive, permitting treatment de-intensification. Copyright © 2015 Elsevier Ltd. All rights reserved.

Crayfish: a newly recognized vehicle for vibrio infections.

PubMed

Bean, N H; Maloney, E K; Potter, M E; Korazemo, P; Ray, B; Taylor, J P; Seigler, S; Snowden, J

1998-10-01

We conducted a 1-year case-control study of sporadic vibrio infections to identify risk factors related to consumption of seafood products in two coastal areas of Louisiana and Texas. Twenty-six persons with sporadic vibrio infections and 77 matched controls were enrolled. Multivariate analysis revealed that crayfish (P < 0.025) and raw oysters (P < 0.009) were independently associated with illness. Species-specific analysis revealed an association between consumption of cooked crayfish and Vibrio parahemolyticus infection (OR 9.24, P < 0.05). No crayfish consumption was reported by persons with V. vulnificus infection. Although crayfish had been suspected as a vehicle for foodborne disease, this is the first time to our knowledge that consumption of cooked crayfish has been demonstrated to be associated with vibrio infection.

[Clinical, electrocardiographic and echocardiographic aspects in elderly hypertensive patients in Senegal].

PubMed

Sarr, Simon Antoine; Babaka, Kana; Mboup, Mouhamadou Cherif; Fall, Pape Diadie; Dia, Khadidiatou; Bodian, Malick; Ndiaye, Mouhamadou Bamba; Kane, Adama; Diao, Maboury; Ba, Serigne Abdou

2016-01-01

Arterial hypertension (HTA) in the elderly is an independent risk factor for cardiovascular disease. Our study aims to describe the clinical, electrocardiographic and echocardiographic aspects of Arterial hypertension in elderly patients. We conducted a descriptive, cross-sectional study from January to September 2013. Hypertensive patients =60 years treated in Outpatient Cardiology Department at the Principal Hospital in Dakar were included in the study. Statistical data were analyzed using Epi Info 7 software and a p-value < 0.05 was taken as significant. A total of 208 patients were enrolled in the study. The average age was 69.9 years with a female predominance (sex ratio 0.85). Average blood pressure was 162/90 mm Hg. HTA was under control in 13% of cases. The ECG showed evidence of rhythm disturbance (17.78%), left atrial enlargement (45.19%), left ventricular hypertrophy (28.85%) and complete atrioventricular block in 2 cases. Holter ECG revealed non-sustained ventricular tachycardia (Lown class IVb) in 4 cases, paroxysmal atrial fibrillation in 6 cases and paroxysmal atrial flutter in 1 case. Echocardiography performed in 140 patients showed mainly concentric left ventricular hypertrophy in 25 patients, occuring more frequently in males (p=0,04) and dilated left atrium in 56,42% of cases, occuring more frequently in elderly patients (p= 0,01). Electrocardiographic and echocardiographic aspects in elderly hypertensive population are characterized by concentric left ventricular hypertrophy and by the frequency of arrhythmias sometimes revealed by long-term continuous external electrocardiographic recording.

Association of two synonymous splicing-associated CpG single nucleotide polymorphisms in calpain 10 and solute carrier family 2 member 2 with type 2 diabetes

PubMed Central

Karambataki, Maria; Malousi, Andigoni; Tzimagiorgis, Georgios; Haitoglou, Constantinos; Fragou, Aikaterini; Georgiou, Elisavet; Papadopoulou, Foteini; Krassas, Gerasimos E.; Kouidou, Sofia

2017-01-01

Coding synonymous single nucleotide polymorphisms (SNPs) have attracted little attention until recently. However, such SNPs located in epigenetic, CpG sites modifying exonic splicing enhancers (ESEs) can be informative with regards to the recently verified association of intragenic methylation and splicing. The present study describes the association of type 2 diabetes (T2D) with the exonic, synonymous, epigenetic SNPs, rs3749166 in calpain 10 (CAPN10) glucose transporter (GLUT4) translocator and rs5404 in solute carrier family 2, member 2 (SLC2A2), also termed GLUT2, which, according to prior bioinformatic analysis, strongly modify the splicing potential of glucose transport-associated genes. Previous association studies reveal that only rs5404 exhibits a strong negative T2D association, while data on the CAPN10 polymorphism are contradictory. In the present study DNA from blood samples of 99 Greek non-diabetic control subjects and 71 T2D patients was analyzed. In addition, relevant publicly available cases (40) resulting from examination of 110 Personal Genome Project data files were analyzed. The frequency of the rs3749166 A allele, was similar in the patients and non-diabetic control subjects. However, AG heterozygotes were more frequent among patients (73.24% for Greek patients and 54.55% for corresponding non-diabetic control subjects; P=0.0262; total cases, 52.99 and 75.00%, respectively; P=0.0039). The rs5404 T allele was only observed in CT heterozygotes (Greek non-diabetic control subjects, 39.39% and Greek patients, 22.54%; P=0.0205; total cases, 34.69 and 21.28%, respectively; P=0.0258). Notably, only one genotype, heterozygous AG/CC, was T2D-associated (Greek non-diabetic control subjects, 29.29% and Greek patients, 56.33%; P=0.004; total cases, 32.84 and 56.58%, respectively; P=0.0008). Furthermore, AG/CC was strongly associated with very high (≥8.5%) glycosylated plasma hemoglobin levels among patients (P=0.0002 for all cases). These results reveal the complex heterozygotic SNP association with T2D, and indicate possible synergies of these epigenetic, splicing-regulatory, synonymous SNPs, which modify the splicing potential of two alternative glucose transport-associated genes. PMID:28357066

Association between PPAP2B gene polymorphisms and coronary heart disease susceptibility in Chinese Han males and females.

PubMed

Sun, Yu-Xiao; Gao, Chuan-Yu; Lu, Yang; Fu, Xin; Jia, Jun-Ge; Zhao, Yu-Jie; Li, Lian-Dong; Dui, Hong-Zhi; Zhang, Xing-Yu; Li, Zhi-Ying; Lei, Lei; Zhang, Wei-Feng; Yuan, Yi-Qiang

2017-02-21

Little is known about gender-related differences in the association between PPAP2B single nucleotide polymorphisms (SNPs) and coronary heart disease (CHD) in Chinese Han males and females. We therefore conducted a case-control study with 456 cases and 685 healthy controls divided into male and female subgroups. Five PPAP2B polymorphisms (SNPs) were selected and genotyped using Sequenom Mass-ARRAY technology. Odds ratios (OR) and 95% confidence intervals (CIs) were calculated using unconditional logistic regression adjusting for age and gender. Allelic model analysis revealed that for PPAP2B rs1759752, allele frequency distributions differed between cases and controls in the male subgroup (p = 0.015, OR: 1.401, 95%CI: 1.066-1.481). Genetic model analysis revealed that in the male subgroup, rs1759752 was associated with increased CHD risk in the dominant model (p = 0.035) and overdominant model (p = 0.045). In the female subgroup, rs12566304 was associated with a decreased CHD risk in the codominant model (p = 0.038) and overdominant model (p = 0.031). Additionally, the "GC" haplotypes of rs1759752 and rs1930760 were protective against CHD in males. These observations shed new light on gender-related differences in the association between PPAP2B gene polymorphisms and CHD susceptibility in the Chinese Han population.

Serum Apelin: A New Marker of Early Atherosclerosis in Children with Type 1 Diabetes Mellitus

PubMed Central

Sabry, Rania N.; El Wakeel, Maged A.; El-Kassas, Ghada M.; Amer, Ahmed F.; El Batal, Wael H.; El-Zayat, Salwa Refat; Abou-El-Asrar, Mohamed

2018-01-01

INTRODUCTION: Type 1 diabetes mellitus (T1DM) is one of the most common chronic diseases in children that may be complicated by micro or macrovascular complications. Measurement of the carotid intima-media thickness (CIMT) allows the early detection of atherosclerotic alterations of blood vessels that may complicate T1DM. SUBJECTS AND METHODS: This study is a case-control study. Participants were classified into two groups. The first group included 40 children with T1DM and the second group included 30 matched healthy controls. The studied cases were recruited from Endocrinology and Diabetology Unit, Pediatric Hospital, Ain Shams University. Serum apelin, cholesterol, TG, LDL were measured for every case. Also, albumin level was analyzed in urine. Measurement of the carotid intima-media thickness (CIMT) was done for all cases. RESULTS: Comparison between T1DM patients and controls revealed that serum apelin, cholesterol, TG, LDL and albuminuria were significantly increased in cases compared to controls. Significant positive correlations were detected between HbA1C, albuminuria and lipid profile with apelin in the diabetic group (p < 0.05). CIMT has significant positive correlation with serum apelin levels (r = 0.36, p = 0.05). Also, this study found positive correlations between CIMT and some variables as LDL, SBP z-score and duration of the illness. CONCLUSION: Increased levels of serum apelin in T1DM patients may be considered as predicting factor for the ongoing development of vascular sequels. This study highlighted the possible validity of apelin assay as an early predictor of atherosclerosis in T1DM children. Evaluating CIMT in these patients is of at most important for early detection of subclinical atherosclerosis. PMID:29731925

Multilocus analysis reveals three candidate genes for Chinese migraine susceptibility.

PubMed

An, X-K; Fang, J; Yu, Z-Z; Lin, Q; Lu, C-X; Qu, H-L; Ma, Q-L

2017-08-01

Several genome-wide association studies (GWASs) in Caucasian populations have identified 12 loci that are significantly associated with migraine. More evidence suggests that serotonin receptors are also involved in migraine pathophysiology. In the present study, a case-control study was conducted in a cohort of 581 migraine cases and 533 ethnically matched controls among a Chinese population. Eighteen polymorphisms from serotonin receptors and GWASs were selected, and genotyping was performed using a Sequenom MALDI-TOF mass spectrometry iPLEX platform. The genotypic and allelic distributions of MEF2D rs2274316 and ASTN2 rs6478241 were significantly different between migraine patients and controls. Univariate and multivariate analysis revealed significant associations of polymorphisms in the MEF2D and ASTN2 genes with migraine susceptibility. MEF2D, PRDM16 and ASTN2 were also found to be associated with migraine without aura (MO) and migraine with family history. And, MEF2D and ASTN2 also served as genetic risk factors for the migraine without family history. The generalized multifactor dimensionality reduction analysis identified that MEF2D and HTR2E constituted the two-factor interaction model. Our study suggests that the MEF2D, PRDM16 and ASTN2 genes from GWAS are associated with migraine susceptibility, especially MO, among Chinese patients. It appears that there is no association with serotonin receptor related genes. © 2017 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Linburg-Comstock: Is Overuse an Etiological Factor?

PubMed

Bulut, Tugrul; Tahta, Mesut; Ozturk, Tahir; Zengin, Eyup Cagatay; Ozcan, Cem; Sener, Muhittin

2017-11-01

Linburg-Comstock anomaly is typically defined as a tenosynovial interconnection between flexor pollicis longus and flexor digitorum profundus tendon of the second finger. There are several studies stating that the current anomaly is congenital or acquired. The aim of this study is to reveal whether overuse, which is mostly reported as an acquired etiologic factor, effective in development of the current anomaly. Three hundred thirteen medical secretaries who work with computer keyboard at least 6 hours a day were defined as study group. Three hundred twenty-three volunteers without jobs who necessitate continuous and repetitive hand and finger activities were defined as control group. All individuals were examined by an orthopaedic surgeon. Additionally, cases with Linburg-Comstock anomaly were evaluated in respect of forearm pain and subjective findings of carpal tunnel syndrome. Linburg-Comstock anomaly was determined in 27.8% cases of medical secretary group and in 32.2% of healthy control group. In medical secretaries with Linburg-Comstock anomaly, 25.3% had forearm pain and 5.7% had findings of carpal tunnel syndrome. In control group with Linburg-Comstock anomaly, 21.2% had forearm pain and 13.5% had findings of carpal tunnel syndrome. No relationship was found between overuse of the hand and Linburg-Comstock anomaly and the symptoms accompanying the anomaly. The current study reveals that overuse is not an etiologic factor in Linburg-Comstock anomaly existence and related symptoms. We think that the current anomaly develops on congenital basis rather than acquired factors.

Identification of RNF213 as a susceptibility gene for moyamoya disease and its possible role in vascular development.

PubMed

Liu, Wanyang; Morito, Daisuke; Takashima, Seiji; Mineharu, Yohei; Kobayashi, Hatasu; Hitomi, Toshiaki; Hashikata, Hirokuni; Matsuura, Norio; Yamazaki, Satoru; Toyoda, Atsushi; Kikuta, Ken-ichiro; Takagi, Yasushi; Harada, Kouji H; Fujiyama, Asao; Herzig, Roman; Krischek, Boris; Zou, Liping; Kim, Jeong Eun; Kitakaze, Masafumi; Miyamoto, Susumu; Nagata, Kazuhiro; Hashimoto, Nobuo; Koizumi, Akio

2011-01-01

Moyamoya disease is an idiopathic vascular disorder of intracranial arteries. Its susceptibility locus has been mapped to 17q25.3 in Japanese families, but the susceptibility gene is unknown. Genome-wide linkage analysis in eight three-generation families with moyamoya disease revealed linkage to 17q25.3 (P<10(-4)). Fine mapping demonstrated a 1.5-Mb disease locus bounded by D17S1806 and rs2280147. We conducted exome analysis of the eight index cases in these families, with results filtered through Ng criteria. There was a variant of p.N321S in PCMTD1 and p.R4810K in RNF213 in the 1.5-Mb locus of the eight index cases. The p.N321S variant in PCMTD1 could not be confirmed by the Sanger method. Sequencing RNF213 in 42 index cases confirmed p.R4810K and revealed it to be the only unregistered variant. Genotyping 39 SNPs around RNF213 revealed a founder haplotype transmitted in 42 families. Sequencing the 260-kb region covering the founder haplotype in one index case did not show any coding variants except p.R4810K. A case-control study demonstrated strong association of p.R4810K with moyamoya disease in East Asian populations (251 cases and 707 controls) with an odds ratio of 111.8 (P = 10(-119)). Sequencing of RNF213 in East Asian cases revealed additional novel variants: p.D4863N, p.E4950D, p.A5021V, p.D5160E, and p.E5176G. Among Caucasian cases, variants p.N3962D, p.D4013N, p.R4062Q and p.P4608S were identified. RNF213 encodes a 591-kDa cytosolic protein that possesses two functional domains: a Walker motif and a RING finger domain. These exhibit ATPase and ubiquitin ligase activities. Although the mutant alleles (p.R4810K or p.D4013N in the RING domain) did not affect transcription levels or ubiquitination activity, knockdown of RNF213 in zebrafish caused irregular wall formation in trunk arteries and abnormal sprouting vessels. We provide evidence suggesting, for the first time, the involvement of RNF213 in genetic susceptibility to moyamoya disease.

Genetic Variability in Energy Balance and Pancreatic Cancer Risk in a Population-Based Case-Control Study in Minnesota

PubMed Central

Zhang, Jianjun; Dhakal, Ishwori B.; Zhang, Xuemei; Prizment, Anna E.; Anderson, Kristin E.

2013-01-01

Objectives Accumulating evidence suggests that energy imbalance plays a role in pancreatic carcinogenesis. However, it remains unclear whether single nucleotide polymorphisms (SNPs) in genes regulating energy homeostasis influence pancreatic cancer risk. We investigated this question in a case-control study conducted from 1994 to 1998. Methods Cases (n=173) were ascertained from hospitals in the Twin Cities and Mayo Clinic, Minnesota. Controls (n=476) were identified from the general population and frequency matched to cases by age and sex. Seven SNPs were evaluated in relation to pancreatic cancer using unconditional logistic regression. Results After adjustment for confounders, the leucine/proline or proline/proline genotype of the neuropeptide Y (NPY) gene rs16139 was associated with a lower risk than the leucine/leucine genotype [odds ratio (OR) (95% confidence interval) (95% CI): 0.40 (0.15, 0.91)]. Conversely, an increased risk was observed for the glycine/arginine or arginine/arginine genotype of the adrenoceptor beta 2, surface (ADRB2) gene rs1042713 as compared with the glycine/glycine genotype [OR (95% CI): 1.52 (1.01, 2.31)]. Conclusions This study first reveals that SNPs in genes modulating energy intake (NPY) and energy expenditure (ADRB2) altered pancreatic cancer risk. If confirmed by other studies, our findings may shed new light on the etiology and prevention of pancreatic cancer. PMID:24201779

[Factors associated with development of tuberculosis among children and young adults: a study of newly registered cases].

PubMed

Komatsu, R; Kitai, A; Mori, T; Yamada, Y

1990-03-01

In order to elucidate the factors relevant to the management and prevention of tuberculosis among children and young adults, a total of 191 tuberculosis cases who were newly registered at Health Centers in Saitama Prefecture and were aged less than 30 years were interviewed, and case-finding processes, treatment course and risk factors for clinical development were studied. Analyses of the time course from the patients' becoming aware of the clinical symptoms through the establishment of the diagnosis showed that the bacteriologically positive patients and the patients with cavitary lesion took a longer time before initiating medical action and before being finally diagnosed as tuberculous. Follow-up observation of patients' course of treatment revealed that 13% of the patients took prescribed medication irregularly or were lost to treatment. A case-control study was performed to determine the relationship between life style and disease risk. The control group was selected to match the patients for age and sex and also roughly with occupation. The risk factors found to be associated with the development of tuberculosis in this study included; family members' present or past history of tuberculosis, working night shift every week, eating at home less than once a day, diet not well balanced, indifference to personal health, lack of knowledge about tuberculosis and not attending 'cram' school. Also, patients were more likely to be taller and slimmer than controls.

Intra- versus retroplacental hematomas: a retrospective case-control study on pregnancy outcomes.

PubMed

Ott, Johannes; Pecnik, Philipp; Promberger, Regina; Pils, Sophie; Binder, Julia; Chalubinski, Kinga M

2017-10-26

Intrauterine hematomas are a common pregnancy complication. The literature lacks studies about outcomes based on hematoma localization. Thus, we aimed to compare pregnancies complicated by an intraplacental hematoma to cases with a retroplacental hematoma and to a control group. In a retrospective case-control study, 32 women with an intraplacental hematoma, 199 women with a retroplacental hematoma, and a control group consisting of 113 age-matched women with no signs of placental abnormalities were included. Main outcome measures were pregnancy complications. Second-trimester miscarriage was most common in the intraplacental hematoma group (9.4%), followed by women with a retroplacental hematoma (4.2%), and controls (0%; p = 0.007). The intraplacental hematoma group revealed the highest rates for placental insufficiency, intrauterine growth retardation, premature preterm rupture of membranes, preterm labor, preterm delivery <37 weeks, and early preterm delivery <34 weeks (p < 0.05), followed by the retroplacental hematoma group. When tested in multivariate models, intraplacental hematomas were independent predictors for placental insufficiency (ß = 4.19, p < 0.001) and intrauterine growth restriction (ß = 1.44, p = 0.035). Intrauterine fetal deaths occurred only in women with a retroplacental hematoma (p = 0.042). Intra- and retroplacental hematomas have different risk profiles for the affected pregnancy and act as independent risk factors.

Soy isoflavone consumption and colorectal cancer risk: a systematic review and meta-analysis

PubMed Central

Yu, Yi; Jing, Xiaoli; Li, Hui; Zhao, Xiang; Wang, Dongping

2016-01-01

Colorectal cancer (CRC) is one of the most predominant solid carcinomas in Western countries. However, there is conflicting information on the effects of soy isoflavone on CRC risk. Therefore, we performed a meta-analysis to assess the association between soy isoflavone consumption and CRC risk in humans using PubMed, Embase, Web of Science, and Cochrane Library databases. A total of 17 epidemiologic studies, which consisted of thirteen case-control and four prospective cohort studies, met the inclusion criteria. Our research findings revealed that soy isoflavone consumption reduced CRC risk (relative risk, RR: 0.78, 95% CI: 0.72–0.85; I2 = 34.1%, P = 0.024). Based on subgroup analyses, a significant protective effect was observed with soy foods/products (RR: 0.79; 95% CI: 0.69–0.89), in Asian populations (RR: 0.79; 95% CI: 0.72–0.87), and in case-control studies (RR: 0.76; 95% CI: 0.68–0.84). Therefore, soy isoflavone consumption was significantly associated with a reduced risk of CRC risk, particularly with soy foods/products, in Asian populations, and in case-control studies. However, due to the limited number of studies, other factors may affect this association. PMID:27170217

History of kidney stones as a possible risk factor for chronic kidney disease.

PubMed

Vupputuri, Suma; Soucie, J Michael; McClellan, William; Sandler, Dale P

2004-03-01

The incidence of treated end-stage renal disease has increased progressively in the United States over the past several decades. It has been suggested that kidney stones may be a contributing factor for a small percentage of these patients. We conducted a case-control study utilizing 548 hospital cases and 514 age, race and gender-matched community controls. The main outcome measure was diagnosis of chronic kidney disease, assessed by comprehensive chart review. History of kidney stones and other co-variables were obtained during telephone interviews. This study revealed 16.8% of cases and 6.4% of controls with reported history of kidney stones. The odds ratios (adjusted for confounding variables) for chronic kidney disease (overall), diabetic nephropathy and interstitial nephritis for patients with kidney stones were 1.9 (95% CI: 1.1, 3.3), 2.5 (95% CI: 0.87, 7.0) and 3.4 (95% CI: 1.5, 7.4), respectively. After stratifying by hypertensive status this increased risk persisted only for study participants reporting no history of hypertension. Kidney stones may play a role in the development of chronic kidney disease. Our study suggests that the prevention of kidney stones may be a means of delaying the onset of chronic kidney disease, however, further studies are needed to make conclusive recommendations.

Insulin Resistance and Metabolic Syndrome: Clinical and Laboratory Associations in African Americans Without Diabetes in the Hemochromatosis and Iron Overload Screening Study.

PubMed

Barton, James C; Barton, Jackson Clayborn; Acton, Ronald T

2018-05-31

We sought to determine associations with insulin resistance (IR) and metabolic syndrome (MetS) in African Americans. We studied African American adults without diabetes in a postscreening examination. Participants included Cases: transferrin saturation (TS) >50% and serum ferritin (SF) >300 μg/L (M), and TS >45% and SF >200 μg/L (F), regardless of HFE genotype; and Controls: TS/SF 25th to 75th percentiles and HFE wt/wt (wild type). We excluded participants with fasting <8 h; fasting glucose >126 mg/dL; hepatitis B or C; cirrhosis; pregnancy; or incomplete datasets. We analyzed age; sex; Case/Control; body mass index (BMI); systolic and diastolic blood pressures; neutrophils; lymphocytes; alanine aminotransferase; aspartate aminotransferase; elevated C-reactive protein (CRP >0.5 mg/L); TS; and SF. We computed homeostasis model assessment of insulin resistance (HOMA-IR) using fasting serum glucose and insulin, and defined IR as HOMA-IR fourth quartile (≥2.42). There were 312 Cases and 86 Controls (56.3% men). Ninety-one percent had HFE wt/wt. None had HFE p.C282Y. A significant increasing trend across HOMA-IR quartiles was observed for BMI only. Multivariable regression on HOMA-IR revealed significant positive associations: age; BMI; lymphocytes; SF; and CRP >0.5 mg/L; and significant negative associations: neutrophils and TS. Logistic regression on IR revealed BMI [odds ratio (OR) 1.3 (95% confidence interval 1.2-1.4)] and CRP >0.5 mg/L [OR 2.7 (1.2-6.3)]. Fourteen participants (3.5%) had MetS. Logistic regression on MetS revealed one association: IR [OR 7.4 (2.1-25.2)]. In African Americans without diabetes, IR was associated with BMI and CRP >0.5 mg/L, after adjustment for other variables. MetS was associated with IR alone.

Into the development of a model to assess beam shaping and polarization control effects on laser cutting

NASA Astrophysics Data System (ADS)

Rodrigues, Gonçalo C.; Duflou, Joost R.

2018-02-01

This paper offers an in-depth look into beam shaping and polarization control as two of the most promising techniques for improving industrial laser cutting of metal sheets. An assessment model is developed for the study of such effects. It is built upon several modifications to models as available in literature in order to evaluate the potential of a wide range of considered concepts. This includes different kinds of beam shaping (achieved by extra-cavity optical elements or asymmetric diode staking) and polarization control techniques (linear, cross, radial, azimuthal). A fully mathematical description and solution procedure are provided. Three case studies for direct diode lasers follow, containing both experimental data and parametric studies. In the first case study, linear polarization is analyzed for any given angle between the cutting direction and the electrical field. In the second case several polarization strategies are compared for similar cut conditions, evaluating, for example, the minimum number of spatial divisions of a segmented polarized laser beam to achieve a target performance. A novel strategy, based on a 12-division linear-to-radial polarization converter with an axis misalignment and capable of improving cutting efficiency with more than 60%, is proposed. The last case study reveals different insights in beam shaping techniques, with an example of a beam shape optimization path for a 30% improvement in cutting efficiency. The proposed techniques are not limited to this type of laser source, neither is the model dedicated to these specific case studies. Limitations of the model and opportunities are further discussed.

[The correlation between sonar morphological measurements and plasma levels of oestradiol and oestriol in early pregnancy (author's transl)].

PubMed

Luyx, A; De Hertogh, R; Foldesi, A; Rousseau, P

1979-03-01

53 cases of pregnancy complicated by bleeding between the 7th and 16th week have been studied by repeated estimations of non-conjugated plasma oestradiol and oestriol carried out at the same time as ultrasound morphological measurements were performed. 24 pregnancies went on to term while 29 met with the loss of the fetus. In each case where the outcome was favourable the plasma oestriol and oestradiol levels were comparable to those found in 95 control pregnant women whose pregnancies progressed normally. In 26 cases where the outcome was unfavourable the levels were too low and corresponded to an ultrasound picture that was abnormal or revealed absence of heart beat. In 3 cases the first levels of oestradiol and oestriol seemed to be normal. Later, when failure of growth of the embryo and absence of heart beat were found, a considerable drop in the levels of oestradiol and of oestriol in the blood was also revealed. This study shows a good correlation between hormone levels and ultrasound findings in pregnancies complicated by bleeding. All the same, the prognostic value of hormone measurements as compared with ultrasound measurements has not yet been established, and needs analysis of a far greater number of cases of a similar type.

Bioactive glass in cavitary bone defects: a comparative experimental study in rabbits

PubMed Central

Camargo, André Ferrari de França; Baptista, André Mathias; Natalino, Renato; de Camargo, Olavo Pires

2015-01-01

OBJECTIVES: To compare bioactive glass and autograft regarding their histomorphometric characteristics. METHODS: The authors conducted a prospective case-control experimental study on animals in order to compare the histomorphometric characteristics of bioactive glass versus autograft. Eight rabbits underwent surgery in which a cavitary defect was created in both proximal femurs. One side was filled with bioactive glass granules and the other, with autograft grafted from the contralateral side. The sides were randomized. Fourteen days after surgery, the animals were euthanized. RESULTS: Histologic analysis revealed that bone neoformation was equivalent among the two groups and the osteoblasts cell-count was higher in the femurs treated with bioactive glass. The osteocytes cell-count, however, was lower. The similarity in bone formation between both groups was consistent to literature findings. CONCLUSION: Bioactive glass is similar to autograft regarding bone neoformation in this animal model of cavitary bone defects. Level of Evidence III, Case-Control Study. PMID:26327802

Phenotypic and Functional Analysis of Human SLC26A6 Variants in Patients With Familial Hyperoxaluria and Calcium Oxalate Nephrolithiasis

PubMed Central

Monico, Carla G.; Weinstein, Adam; Jiang, Zhirong; Rohlinger, Audrey L.; Cogal, Andrea G.; Bjornson, Beth B.; Olson, Julie B.; Bergstralh, Eric J.; Milliner, Dawn S.; Aronson, Peter S.

2008-01-01

Background Urinary oxalate is a major risk factor for calcium oxalate stones. Marked hyperoxaluria arises from mutations in two separate loci, AGXT and GRHPR, the causes of primary hyperoxaluria (PH) types 1 and 2, respectively. Studies of null Slc26a6 (−/−) mice have revealed a phenotype of hyperoxaluria, hyperoxalemia and calcium oxalate urolithiasis, leading to the hypothesis that SLC26A6 mutations may cause or modify hyperoxaluria in humans. Study Design Cross-sectional, case-control. Setting & Participants Cases were recruited from the International Primary Hyperoxaluria Registry. Control DNA samples were from a pool of adult subjects who identified themselves as being in good health. Predictor PH1, PH2, non-PH1/PH2 genotypes in cases. Outcomes & Measures Homozygosity or compound heterozygosity for SLC26A6 variants. Functional expression of oxalate transport in Xenopus oocytes. Results A total of 80 PH1, 6 PH2, 8 non-PH1/PH2 and 96 control samples were available for SLC26A6 screening. A rare variant, c.487C>T (p.Pro163Ser) was detected solely in one non-PH1/PH2 pedigree but this variant failed to segregate with hyperoxaluria, and functional studies of oxalate transport in Xenopus oocytes revealed no transport defect. No other rare variant was identified specifically in non-PH1/PH2. Six additional missense variants were detected in controls and in cases. Of these, c.616G>A (p.Val206Met) was most common (11%), and showed a 30% reduction in oxalate transport. To test p.Val206Met as a potential modifier of hyperoxaluria, we extended screening to PH1 and PH2. Heterozygosity for this variant did not affect plasma or urine oxalate in this population. Limitations We did not have a sufficient number of cases to determine whether homozygosity for p.Val206Met might significantly affect urine oxalate. Conclusions SLC26A6 was effectively ruled out as the disease gene in this non-PH1/PH2 cohort. Taken together, our studies are the first to identify and characterize SLC26A6 variants in hyperoxaluria. Phenotypic and functional analysis excluded a significant effect of identified variants on oxalate excretion. PMID:18951670

Outbreak of Escherichia coli 0157:H7 related to animal contact at a petting zoo

PubMed Central

Warshawsky, Bryna; Gutmanis, Iris; Henry, Bonnie; Dow, Joanne; Reffle, Jim; Pollett, Graham; Ahmed, Rafiq; Aldom, John; Alves, David; Chagla, Abdul; Ciebin, Bruce; Kolbe, Faron; Jamieson, Frances; Rodgers, Frank

2002-01-01

OBJECTIVE: To determine the cause of an outbreak of Escherichia coli 0157:H7 related to animal exposures so that further transmission could be prevented. DESIGN: Description of laboratory investigations and a case control study. SETTING: Agricultural pavilion at an annual fair in Ontario. POPULATION: People with laboratory evidence of E coli 0157:H7 (seven people) and others with diarrhea (155 people) who called the health unit following a media release were interviewed. Animals that were accessed most frequently by the public in the agriculture pavilion were tested for E coli 0157:H7. In the case control study, a case was defined as someone with laboratory confirmed E coli 0157:H7, or someone who developed severe or bloody diarrhea two to eight days after attending the agricultural pavilion at the fair (61 people). A convenience sample of people who attended the agricultural pavilion but did not develop diarrhea was selected as the control group (89 people). INTERVENTIONS: Human and animal E coli 0157:H7 specimens were subtyped. Cases and controls were interviewed using a standardized questionnaire. RESULTS: Subtyping of the seven human isolates of E coli 0157:H7 revealed five that were of an extremely uncommon phage type. Three samples from goats and one from sheep at the petting zoo in the agricultural pavilion were of this same phage type. The case control study also implicated goats (odds ratio [OR] 3.65; 95% CI 1.63 to 8.52) and sheep (OR 2.94; 95% CI 1.33 to 6.57) from the petting zoo. CONCLUSIONS: Results of this investigation suggest strongly that the goats and sheep from the petting zoo were the source of this outbreak of E coli 0157:H7. PMID:18159389

Association of zolpidem use and subsequent increased risk of epilepsy: a population-based, case-control study.

PubMed

Harnod, Tomor; Wang, Yu-Chiao; Sung, Fung-Chang; Kao, Chia-Hung

2014-10-01

To evaluate the impact of long-term zolpidem use on the subsequent risk of epilepsy. We used data from the National Health Insurance system of Taiwan to conduct a population-based case-control study. We identified 4,972 newly diagnosed epilepsy patients (ICD-9-CM code 345) for the period of 2005-2010 as cases. For each epilepsy case, 4 controls without a history of epilepsy were randomly selected from the rest of the population. Zolpidem was used as a predictor of epilepsy. Patients with epilepsy exhibited an adjusted odds ratio (OR) of 1.86 (95% CI, 1.70-2.03) and were, therefore, more strongly associated with zolpidem exposure than control patients were. The adjusted OR of epilepsy increased with the increase of mean zolpidem exposure (g/y). Compared with the OR of nonusers, the adjusted OR was 1.64 (95% CI, 1.44-1.86) for those who had taken < 1.0 g/y of zolpidem and 2.38 (95% CI, 2.06-2.74) for those who had taken ≥ 20.0 g/y of zolpidem. An adjusted OR of 3.55 (95% CI, 2.94-4.28) was noted to be associated with epilepsy when users had stopped taking the drug less than 7 days earlier. The estimated risk declined to an OR of 1.62 (95% CI, 1.47-1.78) when users had stopped taking the drug more than 90 days earlier. This population-based, retrospective case-control study revealed a possible increase in epilepsy risk with zolpidem use, at either typical or supratherapeutic doses. These findings might stimulate public interest in safety issues regarding zolpidem use. © Copyright 2014 Physicians Postgraduate Press, Inc.

Polymorphism in cytochrome P450 1A2 and their interaction with risk factors in determining risk of squamous cell lung carcinoma in men.

PubMed

Singh, Arvind P; Pant, Mohan C; Ruwali, Munindra; Shah, Parag P; Prasad, Rajendra; Mathur, Neeraj; Parmar, Devendra

The present case-control study was carried out to investigate the association of functionally important polymorphisms of cytochrome P450 1A2 (CYP1A2) involved in the metabolic activation of tobacco derived procarcinogens with squamous cell carcinoma (SCC) of lung in North Indian men. The study consisted of 200 male cases with SCC of lung and an equal number of age and sex matched healthy controls. Our data showed that variant genotype of CYP1A2*1D and CYP1A2*1F were significantly associated with increased susceptibility to SCC of lung. Likewise, GSTM1 null genotype was found to be over represented in patients when compared to controls. Haplotype analysis revealed that haplotype, G-Tdel-T-C was significantly associated with risk to SCC of lung. Moreover, a significant increase in the risk to SCC of lung in the cases carrying combination of variant genotype of CYP1A2 with either CYP1A1 or GSTM1 have shown that gene-gene interactions may play an important role in squamous cell lung cancer risk. Our data also revealed that smokers or tobacco chewers carrying variant alleles of either CYP1A2*1D or CYP1A2*1F were at increased risk to SCC of lung, further demonstrating that CYP1A2 genotypes interact with environmental risk factors in enhancing the risk to squamous cell lung carcinoma.

Association of bladder pain syndrome/interstitial cystitis with urinary calculus: a nationwide population-based study.

PubMed

Keller, Joseph; Chen, Yi-Kuang; Lin, Herng-Ching

2013-04-01

Although one prior study reported an association between bladder pain syndrome/interstitial cystitis (BPS/IC) and urinary calculi (UC), no population-based study to date has been conducted to explore this relationship. Therefore, using a population-based data set in Taiwan, this study set out to investigate the association between BPS/IC and a prior diagnosis of UC. This study included 9,269 cases who had received their first-time diagnosis of BPS/IC between 2006 and 2007 and 46,345 randomly selected controls. We used conditional logistic regression analysis to compute the odds ratio (OR) and its corresponding 95 % confidence interval (CI) for having been previously diagnosed with UC between cases and controls. There was a significant difference in the prevalence of prior UC between cases and controls (8.1 vs 4.3 %, p < 0.001). Conditional logistic regression analysis revealed that cases were more likely to have been previously diagnosed with UC than controls (OR = 1.70; 95 % CI = 1.56-1.84) after adjusting for chronic pelvic pain, irritable bowel syndrome, fibromyalgia, chronic fatigue syndrome, depression, panic disorder, migraine, sicca syndrome, allergy, endometriosis, and asthma. BPS/IC was found to be significantly associated with prior UC regardless of stone location; the adjusted ORs of kidney calculus, ureter calculus, bladder calculus, and unspecified calculus when compared to controls were 1.58 (95 % CI = 1.38-1.81), 1.73 (95 % CI = 1.45-2.05), 3.80 (95 % CI = 2.18-6.62), and 1.83 (95 % CI = 1.59-2.11), respectively. This work generates the hypothesis that UC may be associated with BPS/IC.

Optimal feedback scheme and universal time scaling for Hamiltonian parameter estimation.

PubMed

Yuan, Haidong; Fung, Chi-Hang Fred

2015-09-11

Time is a valuable resource and it is expected that a longer time period should lead to better precision in Hamiltonian parameter estimation. However, recent studies in quantum metrology have shown that in certain cases more time may even lead to worse estimations, which puts this intuition into question. In this Letter we show that by including feedback controls this intuition can be restored. By deriving asymptotically optimal feedback controls we quantify the maximal improvement feedback controls can provide in Hamiltonian parameter estimation and show a universal time scaling for the precision limit under the optimal feedback scheme. Our study reveals an intriguing connection between noncommutativity in the dynamics and the gain of feedback controls in Hamiltonian parameter estimation.

Performance of Disease Risk Score Matching in Nested Case-Control Studies: A Simulation Study.

PubMed

Desai, Rishi J; Glynn, Robert J; Wang, Shirley; Gagne, Joshua J

2016-05-15

In a case-control study, matching on a disease risk score (DRS), which includes many confounders, should theoretically result in greater precision than matching on only a few confounders; however, this has not been investigated. We simulated 1,000 hypothetical cohorts with a binary exposure, a time-to-event outcome, and 13 covariates. Each cohort comprised 2 subcohorts of 10,000 patients each: a historical subcohort and a concurrent subcohort. DRS were estimated in the historical subcohorts and applied to the concurrent subcohorts. Nested case-control studies were conducted in the concurrent subcohorts using incidence density sampling with 2 strategies-matching on age and sex, with adjustment for additional confounders, and matching on DRS-followed by conditional logistic regression for 9 outcome-exposure incidence scenarios. In all scenarios, DRS matching yielded lower average standard errors and mean squared errors than did matching on age and sex. In 6 scenarios, DRS matching also resulted in greater empirical power. DRS matching resulted in less relative bias than did matching on age and sex at lower outcome incidences but more relative bias at higher incidences. Post-hoc analysis revealed that the effect of DRS model misspecification might be more pronounced at higher outcome incidences, resulting in higher relative bias. These results suggest that DRS matching might increase the statistical efficiency of case-control studies, particularly when the outcome is rare. © The Author 2016. Published by Oxford University Press on behalf of the Johns Hopkins Bloomberg School of Public Health. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.

Steep discounting of delayed monetary and food rewards in obesity: a meta-analysis.

PubMed

Amlung, M; Petker, T; Jackson, J; Balodis, I; MacKillop, J

2016-08-01

An increasing number of studies have investigated delay discounting (DD) in relation to obesity, but with mixed findings. This meta-analysis synthesized the literature on the relationship between monetary and food DD and obesity, with three objectives: (1) to characterize the relationship between DD and obesity in both case-control comparisons and continuous designs; (2) to examine potential moderators, including case-control v. continuous design, money v. food rewards, sample sex distribution, and sample age (18 years); and (3) to evaluate publication bias. From 134 candidate articles, 39 independent investigations yielded 29 case-control and 30 continuous comparisons (total n = 10 278). Random-effects meta-analysis was conducted using Cohen's d as the effect size. Publication bias was evaluated using fail-safe N, Begg-Mazumdar and Egger tests, meta-regression of publication year and effect size, and imputation of missing studies. The primary analysis revealed a medium effect size across studies that was highly statistically significant (d = 0.43, p < 10-14). None of the moderators examined yielded statistically significant differences, although notably larger effect sizes were found for studies with case-control designs, food rewards and child/adolescent samples. Limited evidence of publication bias was present, although the Begg-Mazumdar test and meta-regression suggested a slightly diminishing effect size over time. Steep DD of food and money appears to be a robust feature of obesity that is relatively consistent across the DD assessment methodologies and study designs examined. These findings are discussed in the context of research on DD in drug addiction, the neural bases of DD in obesity, and potential clinical applications.

Local bladder cancer clusters in southeastern Michigan accounting for risk factors, covariates and residential mobility.

PubMed

Jacquez, Geoffrey M; Shi, Chen; Meliker, Jaymie R

2015-01-01

In case control studies disease risk not explained by the significant risk factors is the unexplained risk. Considering unexplained risk for specific populations, places and times can reveal the signature of unidentified risk factors and risk factors not fully accounted for in the case-control study. This potentially can lead to new hypotheses regarding disease causation. Global, local and focused Q-statistics are applied to data from a population-based case-control study of 11 southeast Michigan counties. Analyses were conducted using both year- and age-based measures of time. The analyses were adjusted for arsenic exposure, education, smoking, family history of bladder cancer, occupational exposure to bladder cancer carcinogens, age, gender, and race. Significant global clustering of cases was not found. Such a finding would indicate large-scale clustering of cases relative to controls through time. However, highly significant local clusters were found in Ingham County near Lansing, in Oakland County, and in the City of Jackson, Michigan. The Jackson City cluster was observed in working-ages and is thus consistent with occupational causes. The Ingham County cluster persists over time, suggesting a broad-based geographically defined exposure. Focused clusters were found for 20 industrial sites engaged in manufacturing activities associated with known or suspected bladder cancer carcinogens. Set-based tests that adjusted for multiple testing were not significant, although local clusters persisted through time and temporal trends in probability of local tests were observed. Q analyses provide a powerful tool for unpacking unexplained disease risk from case-control studies. This is particularly useful when the effect of risk factors varies spatially, through time, or through both space and time. For bladder cancer in Michigan, the next step is to investigate causal hypotheses that may explain the excess bladder cancer risk localized to areas of Oakland and Ingham counties, and to the City of Jackson.

Relation of type A behavior pattern and job-related psychosocial factors to nonfatal myocardial infarction: a case-control study of Japanese male workers and women.

PubMed

Yoshimasu, K

2001-01-01

To study the relation of type A behavior pattern and job-related psychosocial factors to the risk of myocardial infarction. Study subjects comprised 290 cases (173 male workers and 117 women) of nonfatal acute myocardial infarction (AMI) and 489 controls (303 male workers and 186 women) recruited from among residents of the study area. Participation rates of cases and controls were 86% and 50%, respectively. Type A behavior pattern, job-related psychosocial factors, and other coronary risk factors were ascertained by interview using a questionnaire. Type A behavior pattern was measured by 12 questions, and job strain by the method of Karasek. Logistic regression analysis was used to calculate odds ratio and 95% confidence interval with adjustment for potential confounding variables. The relation to job strain was examined only in men. Type A behavior pattern was significantly associated with an increased risk of AMI in male workers (adjusted OR = 1.9, 95% CI, 1.2-2.9) and in women (adjusted OR = 2.8, 95% CI, 1.6-4.9). Although job control and job demand showed no material association with AMI, job strain, a combination of low job control and high job demand was associated with an increased risk of AMI (adjusted OR = 2.2, 95% CI, 1.1-4.5). Abbreviated type A score and job demand score were higher among nonparticipant control candidates than participant controls in male workers. Type A behavior pattern may be an important risk factor for AMI especially in Japanese women. The present study also revealed persons in stressful psychosocial circumstances were less likely to participate in the study.

Retinal Nerve Fiber Layer Thickness Changes in the Pseudoexfoliation Syndrome: A Meta-Analysis of Case-Control Studies.

PubMed

Yu, Ji-Guo; Huang, Qing; Zhou, Xiao-Fang; Ding, Yi; Li, Jing; Xiang, Yi

2018-01-01

To evaluate and compare changes in retinal nerve fiber layer (RNFL) thickness in patients with the pseudoexfoliation syndrome (PXS) and healthy controls. Case-control studies were selected through an electronic search of the Cochrane Controlled Trials Register, PubMed, and Embase. Results were reviewed to ensure that the included studies met prespecified inclusion/exclusion criteria, and the quality of each study was assessed using the Newcastle-Ottawa Scale. All included studies measured average and 4-quadrant (temporal, superior, nasal, and inferior) RNFL thickness using optical coherence tomography (OCT). For the continuous outcomes, we calculated the weighted mean difference (WMD) and 95% confidence intervals (CIs). Eight case-control studies were included in this meta-analysis involving 225 eyes of PXS patients and 208 eyes of healthy controls in total. Statistical analysis revealed that the average RNFL thickness in PXS patients was significantly reduced compared to healthy controls (WMD = -6.91, 95% CI: -9.99 to -3.82, p < 0.0001). Additionally, differences in RNFL thickness in the superior quadrant (WMD = -10.68, 95% CI: -16.40 to -4.95, p = 0.0003), inferior quadrant (WMD = -8.20, 95% CI: -10.85 to -5.55, p < 0.00001), nasal quadrant (WMD = -3.05, 95% CI: -5.21 to -0.90, p = 0.005), and temporal quadrant (WMD = -6.39, 95% CI: -9.98 to -2.80, p = 0.0005) were all significant between the two groups. These results suggest that it is important to evaluate RNFL thickness and the optic nerve head through OCT in patients with PXS in order to determine early glaucomatous damage and start timely intervention prior to visual field loss. © 2017 S. Karger AG, Basel.

Risk of stroke in patients with patent foramen ovale: an updated meta-analysis of observational studies.

PubMed

Ma, Bing; Liu, Guangcong; Chen, Xin; Zhang, Jianming; Liu, Yiting; Shi, Jingpu

2014-01-01

Although patent foramen ovale (PFO) is considered to be associated with cryptogenic stroke (CS), there remains an ongoing disputation on this issue because of unstable results from randomized controlled trials. The aim of this study was to reassess the PFO effect on stroke through observational data. An electronic search of PubMed, Web of Science, and China National Knowledge Infrastructure (CNKI) were finished. Only case-control studies and cohort studies in Chinese or English were included in the analysis. Then random-effected meta-analysis models were performed to assess the association between PFO and stroke. Twelve case-control studies and 6 cohort studies were eligible. Case-control studies showed strong association between PFO and CS (odds ratio [OR]: 2.94, 95% confidence interval [CI]: 2.06, 4.20; P < .001), but cohort studies failed to demonstrate a significant association (hazard ratio [HR]: 1.28, 95% CI: .91, 1.80; P = .155). Subgroup analysis revealed that the pooled OR decreased significantly when the region was limited to the United States (OR: 1.52, 95% CI: 1.00, 2.32; P = .083). OR of studies that adjusted major confounders was 1.74 (95% CI: 1.22, 2.47; P = .119) and high-quality studies was 1.68 (95% CI: 1.14, 2.47; P = .072). For cohort studies, a weak statistical association was observed in using transesophageal echocardiography (TEE) studies (HR: 1.45, 95% CI: 1.06, 2.01; P = .138) and follow-up years less than 4 years' studies (HR: 1.45, 95% CI: 1.00, 2.09; P = .064). Although case-control studies still show a positive effect of PFO on stroke, the results of cohort challenged the credibility. Further trial data are needed to confirm the effect of PFO on stroke. Copyright © 2014 National Stroke Association. Published by Elsevier Inc. All rights reserved.

Genetic variants of MAOB affect serotonin level and specific behavioral attributes to increase autism spectrum disorder (ASD) susceptibility in males.

PubMed

Chakraborti, Barnali; Verma, Deepak; Karmakar, Arijit; Jaiswal, Preeti; Sanyal, Aritrika; Paul, Debarshi; Sinha, Swagata; Singh, Asem Surindro; Guhathakurta, Subhrangshu; Roychowdhury, Anirban; Panda, Chinmoy Kumar; Ghosh, Saurabh; Mohanakumar, Kochupurackal P; Mukhophadhyay, Kanchan; Rajamma, Usha

2016-11-03

Serotonergic system participates in various developmental processes and modulation of behaviour. Autism Spectrum Disorder (ASD) is characterized by a range of behavioral symptoms scaling from mild to severe. Abnormal 5-HT synthesis and signalling, platelet hyperserotonemia and amelioration of repetitive behaviours by SSRI are some of the key findings, which reinforced the hypothesis that serotonergic genes might act as ASD susceptible genes. Therefore, genes encoding monoamine oxidases A/B (MAOA/MAOB) received special attention as these genes are located on the X-chromosome and the gene products are responsible for 5-HT degradation. In the present study, we conducted population-based association analysis of eight markers of MAOB with ASD in a study cohort of 203 cases and 236 controls form India and examined its effect on platelet 5-HT content and behaviour. Gender-specific changes were observed for the contrasting LD between pair of markers among cases and controls. Case-control analysis demonstrated over-distribution of major C allele of rs2283728 and rs2283727 in male and female ASD cases respectively. Haplotypic distribution and interaction among markers showed more robust effect in male cases. Interestingly, male ASD cases displayed higher platelet 5-HT content in comparison to the respective controls. Quantitative trait analysis revealed significant correlation of genetic variants and haplotypes of MAOB markers, rs1799836 and rs6324 with increased platelet 5-HT level and CARS scores for specific behavioral symptoms respectively in males. This study suggests that MAOB increases ASD risk in males, possibly through its sex-specific regulatory effect on 5-HT metabolism and behavior. Copyright © 2016 Elsevier Inc. All rights reserved.

Multicenter cohort association study of SLC2A1 single nucleotide polymorphisms and age-related macular degeneration

PubMed Central

Baas, Dominique C.; Ho, Lintje; Tanck, Michael W.T.; Fritsche, Lars G.; Merriam, Joanna E.; van het Slot, Ruben; Koeleman, Bobby P.C.; Gorgels, Theo G.M.F.; van Duijn, Cornelia M.; Uitterlinden, André G.; de Jong, Paulus T.V.M.; Hofman, Albert; ten Brink, Jacoline B.; Vingerling, Johannes R.; Klaver, Caroline C.W.; Dean, Michael; Weber, Bernhard H. F.; Allikmets, Rando; Hageman, Gregory S.

2012-01-01

Purpose Age-related macular degeneration (AMD) is a major cause of blindness in older adults and has a genetically complex background. This study examines the potential association between single nucleotide polymorphisms (SNPs) in the glucose transporter 1 (SLC2A1) gene and AMD. SLC2A1 regulates the bioavailability of glucose in the retinal pigment epithelium (RPE), which might influence oxidative stress–mediated AMD pathology. Methods Twenty-two SNPs spanning the SLC2A1 gene were genotyped in 375 cases and 199 controls from an initial discovery cohort (the Amsterdam-Rotterdam-Netherlands study). Replication testing was performed in The Rotterdam Study (the Netherlands) and study populations from Würzburg (Germany), the Age Related Eye Disease Study (AREDS; United States), Columbia University (United States), and Iowa University (United States). Subsequently, a meta-analysis of SNP association was performed. Results In the discovery cohort, significant genotypic association between three SNPs (rs3754219, rs4660687, and rs841853) and AMD was found. Replication in five large independent (Caucasian) cohorts (4,860 cases and 4,004 controls) did not yield consistent association results. The genotype frequencies for these SNPs were significantly different for the controls and/or cases among the six individual populations. Meta-analysis revealed significant heterogeneity of effect between the studies. Conclusions No overall association between SLC2A1 SNPs and AMD was demonstrated. Since the genotype frequencies for the three SLC2A1 SNPs were significantly different for the controls and/or cases between the six cohorts, this study corroborates previous evidence that population dependent genetic risk heterogeneity in AMD exists. PMID:22509097

Risk factors associated with sporadic salmonellosis in adults: a case-control study.

PubMed

Ziehm, D; Dreesman, J; Campe, A; Kreienbrock, L; Pulz, M

2013-02-01

In order to identify and assess recent risk factors for sporadic human infections with Salmonella enterica, we conducted a case-control study in Lower Saxony, Germany. The data collection was based on standardized telephone interviews with 1017 cases and 346 controls aged >14 years. Odds ratios were calculated in single-factor and multi-factor analyses for Salmonella cases and two different control groups, i.e. population controls and controls with rotavirus infection. Multi-factor analysis revealed associations between sporadic Salmonella infections for two exposures by both sets of controls: consumption of raw ground pork [adjusted odds ratio (aOR) 2·38, 95% confidence interval (CI) 1·27-4·44] and foreign travel (aOR 2·12, 95% CI 1·00-4·52). Other exposures included consumption of food items containing eggs (aOR 1·43, 95% CI 0·80-2·54), consumption of chicken meat (aOR 1·77, 95% CI 1·26-2·50), outdoor meals/barbecues (aOR 3·96, 95% CI 1·41-11·12) and taking gastric acidity inhibitors (aOR 2·42, 95% CI 1·19-4·92), all were significantly associated with respect to one of the two control groups. The impact of consuming food items containing eggs or chicken meat was lower than expected from the literature. This might be a consequence of Salmonella control programmes as well as increased public awareness of eggs and chicken products being a risk factor for salmonellosis. Efforts to reduce Salmonella infections due to raw pork products should be intensified.

A meta-analysis of genome-wide association studies of breast cancer identifies two novel susceptibility loci at 6q14 and 20q11.

PubMed

Siddiq, Afshan; Couch, Fergus J; Chen, Gary K; Lindström, Sara; Eccles, Diana; Millikan, Robert C; Michailidou, Kyriaki; Stram, Daniel O; Beckmann, Lars; Rhie, Suhn Kyong; Ambrosone, Christine B; Aittomäki, Kristiina; Amiano, Pilar; Apicella, Carmel; Baglietto, Laura; Bandera, Elisa V; Beckmann, Matthias W; Berg, Christine D; Bernstein, Leslie; Blomqvist, Carl; Brauch, Hiltrud; Brinton, Louise; Bui, Quang M; Buring, Julie E; Buys, Saundra S; Campa, Daniele; Carpenter, Jane E; Chasman, Daniel I; Chang-Claude, Jenny; Chen, Constance; Clavel-Chapelon, Françoise; Cox, Angela; Cross, Simon S; Czene, Kamila; Deming, Sandra L; Diasio, Robert B; Diver, W Ryan; Dunning, Alison M; Durcan, Lorraine; Ekici, Arif B; Fasching, Peter A; Feigelson, Heather Spencer; Fejerman, Laura; Figueroa, Jonine D; Fletcher, Olivia; Flesch-Janys, Dieter; Gaudet, Mia M; Gerty, Susan M; Rodriguez-Gil, Jorge L; Giles, Graham G; van Gils, Carla H; Godwin, Andrew K; Graham, Nikki; Greco, Dario; Hall, Per; Hankinson, Susan E; Hartmann, Arndt; Hein, Rebecca; Heinz, Judith; Hoover, Robert N; Hopper, John L; Hu, Jennifer J; Huntsman, Scott; Ingles, Sue A; Irwanto, Astrid; Isaacs, Claudine; Jacobs, Kevin B; John, Esther M; Justenhoven, Christina; Kaaks, Rudolf; Kolonel, Laurence N; Coetzee, Gerhard A; Lathrop, Mark; Le Marchand, Loic; Lee, Adam M; Lee, I-Min; Lesnick, Timothy; Lichtner, Peter; Liu, Jianjun; Lund, Eiliv; Makalic, Enes; Martin, Nicholas G; McLean, Catriona A; Meijers-Heijboer, Hanne; Meindl, Alfons; Miron, Penelope; Monroe, Kristine R; Montgomery, Grant W; Müller-Myhsok, Bertram; Nickels, Stefan; Nyante, Sarah J; Olswold, Curtis; Overvad, Kim; Palli, Domenico; Park, Daniel J; Palmer, Julie R; Pathak, Harsh; Peto, Julian; Pharoah, Paul; Rahman, Nazneen; Rivadeneira, Fernando; Schmidt, Daniel F; Schmutzler, Rita K; Slager, Susan; Southey, Melissa C; Stevens, Kristen N; Sinn, Hans-Peter; Press, Michael F; Ross, Eric; Riboli, Elio; Ridker, Paul M; Schumacher, Fredrick R; Severi, Gianluca; Dos Santos Silva, Isabel; Stone, Jennifer; Sund, Malin; Tapper, William J; Thun, Michael J; Travis, Ruth C; Turnbull, Clare; Uitterlinden, Andre G; Waisfisz, Quinten; Wang, Xianshu; Wang, Zhaoming; Weaver, Joellen; Schulz-Wendtland, Rüdiger; Wilkens, Lynne R; Van Den Berg, David; Zheng, Wei; Ziegler, Regina G; Ziv, Elad; Nevanlinna, Heli; Easton, Douglas F; Hunter, David J; Henderson, Brian E; Chanock, Stephen J; Garcia-Closas, Montserrat; Kraft, Peter; Haiman, Christopher A; Vachon, Celine M

2012-12-15

Genome-wide association studies (GWAS) of breast cancer defined by hormone receptor status have revealed loci contributing to susceptibility of estrogen receptor (ER)-negative subtypes. To identify additional genetic variants for ER-negative breast cancer, we conducted the largest meta-analysis of ER-negative disease to date, comprising 4754 ER-negative cases and 31 663 controls from three GWAS: NCI Breast and Prostate Cancer Cohort Consortium (BPC3) (2188 ER-negative cases; 25 519 controls of European ancestry), Triple Negative Breast Cancer Consortium (TNBCC) (1562 triple negative cases; 3399 controls of European ancestry) and African American Breast Cancer Consortium (AABC) (1004 ER-negative cases; 2745 controls). We performed in silico replication of 86 SNPs at P ≤ 1 × 10(-5) in an additional 11 209 breast cancer cases (946 with ER-negative disease) and 16 057 controls of Japanese, Latino and European ancestry. We identified two novel loci for breast cancer at 20q11 and 6q14. SNP rs2284378 at 20q11 was associated with ER-negative breast cancer (combined two-stage OR = 1.16; P = 1.1 × 10(-8)) but showed a weaker association with overall breast cancer (OR = 1.08, P = 1.3 × 10(-6)) based on 17 869 cases and 43 745 controls and no association with ER-positive disease (OR = 1.01, P = 0.67) based on 9965 cases and 22 902 controls. Similarly, rs17530068 at 6q14 was associated with breast cancer (OR = 1.12; P = 1.1 × 10(-9)), and with both ER-positive (OR = 1.09; P = 1.5 × 10(-5)) and ER-negative (OR = 1.16, P = 2.5 × 10(-7)) disease. We also confirmed three known loci associated with ER-negative (19p13) and both ER-negative and ER-positive breast cancer (6q25 and 12p11). Our results highlight the value of large-scale collaborative studies to identify novel breast cancer risk loci.

A meta-analysis of genome-wide association studies of breast cancer identifies two novel susceptibility loci at 6q14 and 20q11

PubMed Central

Siddiq, Afshan; Couch, Fergus J.; Chen, Gary K.; Lindström, Sara; Eccles, Diana; Millikan, Robert C.; Michailidou, Kyriaki; Stram, Daniel O.; Beckmann, Lars; Rhie, Suhn Kyong; Ambrosone, Christine B.; Aittomäki, Kristiina; Amiano, Pilar; Apicella, Carmel; Baglietto, Laura; Bandera, Elisa V.; Beckmann, Matthias W.; Berg, Christine D.; Bernstein, Leslie; Blomqvist, Carl; Brauch, Hiltrud; Brinton, Louise; Bui, Quang M.; Buring, Julie E.; Buys, Saundra S.; Campa, Daniele; Carpenter, Jane E.; Chasman, Daniel I.; Chang-Claude, Jenny; Chen, Constance; Clavel-Chapelon, Françoise; Cox, Angela; Cross, Simon S.; Czene, Kamila; Deming, Sandra L.; Diasio, Robert B.; Diver, W. Ryan; Dunning, Alison M.; Durcan, Lorraine; Ekici, Arif B.; Fasching, Peter A.; Feigelson, Heather Spencer; Fejerman, Laura; Figueroa, Jonine D.; Fletcher, Olivia; Flesch-Janys, Dieter; Gaudet, Mia M.; Gerty, Susan M.; Rodriguez-Gil, Jorge L.; Giles, Graham G.; van Gils, Carla H.; Godwin, Andrew K.; Graham, Nikki; Greco, Dario; Hall, Per; Hankinson, Susan E.; Hartmann, Arndt; Hein, Rebecca; Heinz, Judith; Hoover, Robert N.; Hopper, John L.; Hu, Jennifer J.; Huntsman, Scott; Ingles, Sue A.; Irwanto, Astrid; Isaacs, Claudine; Jacobs, Kevin B.; John, Esther M.; Justenhoven, Christina; Kaaks, Rudolf; Kolonel, Laurence N.; Coetzee, Gerhard A.; Lathrop, Mark; Le Marchand, Loic; Lee, Adam M.; Lee, I-Min; Lesnick, Timothy; Lichtner, Peter; Liu, Jianjun; Lund, Eiliv; Makalic, Enes; Martin, Nicholas G.; McLean, Catriona A.; Meijers-Heijboer, Hanne; Meindl, Alfons; Miron, Penelope; Monroe, Kristine R.; Montgomery, Grant W.; Müller-Myhsok, Bertram; Nickels, Stefan; Nyante, Sarah J.; Olswold, Curtis; Overvad, Kim; Palli, Domenico; Park, Daniel J.; Palmer, Julie R.; Pathak, Harsh; Peto, Julian; Pharoah, Paul; Rahman, Nazneen; Rivadeneira, Fernando; Schmidt, Daniel F.; Schmutzler, Rita K.; Slager, Susan; Southey, Melissa C.; Stevens, Kristen N.; Sinn, Hans-Peter; Press, Michael F.; Ross, Eric; Riboli, Elio; Ridker, Paul M.; Schumacher, Fredrick R.; Severi, Gianluca; dos Santos Silva, Isabel; Stone, Jennifer; Sund, Malin; Tapper, William J.; Thun, Michael J.; Travis, Ruth C.; Turnbull, Clare; Uitterlinden, Andre G.; Waisfisz, Quinten; Wang, Xianshu; Wang, Zhaoming; Weaver, JoEllen; Schulz-Wendtland, Rüdiger; Wilkens, Lynne R.; Van Den Berg, David; Zheng, Wei; Ziegler, Regina G.; Ziv, Elad; Nevanlinna, Heli; Easton, Douglas F.; Hunter, David J.; Henderson, Brian E.; Chanock, Stephen J.; Garcia-Closas, Montserrat; Kraft, Peter; Haiman, Christopher A.; Vachon, Celine M.

2012-01-01

Genome-wide association studies (GWAS) of breast cancer defined by hormone receptor status have revealed loci contributing to susceptibility of estrogen receptor (ER)-negative subtypes. To identify additional genetic variants for ER-negative breast cancer, we conducted the largest meta-analysis of ER-negative disease to date, comprising 4754 ER-negative cases and 31 663 controls from three GWAS: NCI Breast and Prostate Cancer Cohort Consortium (BPC3) (2188 ER-negative cases; 25 519 controls of European ancestry), Triple Negative Breast Cancer Consortium (TNBCC) (1562 triple negative cases; 3399 controls of European ancestry) and African American Breast Cancer Consortium (AABC) (1004 ER-negative cases; 2745 controls). We performed in silico replication of 86 SNPs at P ≤ 1 × 10-5 in an additional 11 209 breast cancer cases (946 with ER-negative disease) and 16 057 controls of Japanese, Latino and European ancestry. We identified two novel loci for breast cancer at 20q11 and 6q14. SNP rs2284378 at 20q11 was associated with ER-negative breast cancer (combined two-stage OR = 1.16; P = 1.1 × 10−8) but showed a weaker association with overall breast cancer (OR = 1.08, P = 1.3 × 10–6) based on 17 869 cases and 43 745 controls and no association with ER-positive disease (OR = 1.01, P = 0.67) based on 9965 cases and 22 902 controls. Similarly, rs17530068 at 6q14 was associated with breast cancer (OR = 1.12; P = 1.1 × 10−9), and with both ER-positive (OR = 1.09; P = 1.5 × 10−5) and ER-negative (OR = 1.16, P = 2.5 × 10−7) disease. We also confirmed three known loci associated with ER-negative (19p13) and both ER-negative and ER-positive breast cancer (6q25 and 12p11). Our results highlight the value of large-scale collaborative studies to identify novel breast cancer risk loci. PMID:22976474

Cutaneous metastasis revealing a relapse of gastric linitis: Another case

PubMed Central

Kairouani, Mouna; Perrin, Julie; Dietemann-Barabinot, Anne; Diab, Rafiq; Ruck, Stephane

2012-01-01

INTRODUCTION Cutaneous metastasis from gastric cancer is a rare occurrence. The linitis gastric carcinoma accounts only 8.7% of all gastric cancers. PRESENTATION OF CASE We report a case of female patient who was followed for linits cancer with peritoneal metastasis treated by six cycles of chemotherapy. After seventeen months of control, the relapse of the disease revealed by occurrence of cutaneous metastatsis. DISCUSSION Cutaneous metastasis from linit gastric is rare and the prognostic remains poor. The treatment is palliative. CONCLUSION This rare presentation should encourage the practitioners to biopsy any suspicion skin lesion. PMID:23276763

Toxoplasmosis-associated abortion and stillbirth in Tehran, Iran.

PubMed

Ghasemi, Fatemeh Sadat; Rasti, Sima; Piroozmand, Ahmad; Bandehpour, Mojgan; Kazemi, Bahram; Mousavi, Seyed Gholam Abbas; Abdoli, Amir

2016-01-01

This study was aimed to evaluate the role of toxoplasmosis in etiology of abortion and stillbirth based on molecular and serological techniques. A total of 110 pregnant women with abortion and stillbirth were enrolled as the case group, and 110 pregnant women with normal delivery were enrolled as the control group. Serological and molecular detections of Toxoplasma gondii were assessed by ELISA and PCR methods. The seroprevalence of IgG was 25.5% in the case group (26.8% in abortion and 21.4% in stillbirth) and 26.4% in the control group. IgM seropositivity was detected in 2.7% of the case group (3.6% in abortion and 0% in stillbirth) and 0.9% of the control group (p = 0.37). Toxoplasma gondii DNA was detected in 6.4% of the case group (7.3% in abortion and 3.6% in stillbirth) and 1.8% of the control group by PCR (p = 0.17). The major risk factor of congenital toxoplasmosis was the history of eating undercooked meat (p = 0.06). Results of this study revealed that the rate of PCR positive in women with abortion and stillbirth was 3.7 times higher than that in normal delivery, but the difference was not statistically significant. These findings suggest that toxoplasmosis can be involved in etiology of abortion and stillbirth.

Risk factors for severe acute malnutrition in children below 5 y of age in India: a case-control study.

PubMed

Mishra, Kirtisudha; Kumar, Praveen; Basu, Srikanta; Rai, Kiran; Aneja, Satinder

2014-08-01

To determine the possible risk factors for severe acute malnutrition (SAM) in children below 5 y admitted in a hospital in north India. This case-control study was conducted in a medical college hospital in children below 5 y of age. All cases of SAM (diagnosed as per WHO definition) between 6 and 59 mo of age were compared with age-matched controls with weight for height above -2SD of WHO 2006 growth standards. Data regarding socio-demographic parameters, feeding practices and immunization were compared between the groups by univariable and multivariable logistic regression models. A total of 76 cases and 115 controls were enrolled. Among the 14 factors compared, maternal illiteracy, daily family income less than Rs. 200, large family size, lack of exclusive breast feeding in first 6 mo, bottle feeding, administration of pre-lacteals, deprivation of colostrum and incomplete immunization were significant risk factors for SAM. Regarding complementary feeding, it was the consistency, rather than the age of initiation, frequency and variety which showed a significant influence on occurrence of SAM. Multivariate analysis revealed that the risk of SAM was independently associated with 6 factors, namely, illiteracy among mothers, incomplete immunization, practice of bottle feeding, consistency of complementary feeding, deprivation of colostrum and receipt of pre-lacteals at birth. The present study identifies certain risk factors which need to be focused on during health planning and policy making related to children with SAM in India.

A new application of value-stream mapping in new drug development: a case study within Novartis.

PubMed

Heinzen, Mareike; Mettler, Samuel; Coradi, Annina; Boutellier, Roman

2015-03-01

In this case study, we evaluated the effect of colocation on the drug development process using value-stream mapping (VSM) on the Novartis Campus in Basel, Switzerland. We compared a colocated team with a control group that was not colocated. The data showed that colocation was not associated with increased process speed in terms of lead lines. However, the colocated team communicated more and reported beneficial experiences, such as faster working processes or improved mutual understanding. VSM workshops revealed not only performance indicators about colocation, but also enhanced communication and cooperation through the evolving discussion. Copyright © 2014 Elsevier Ltd. All rights reserved.

The writing process: A powerful approach for the language-disabled student.

PubMed

Moulton, J R; Bader, M S

1985-01-01

Our understanding of the writing process can be a powerful tool for teaching language-disabled students the "how" of writing. Direct, explicit instruction in writing process helps these students learn to explore their ideas and to manage the multiple demands of writing. A case study of one student, Jeff, demonstrates how we structure the stages of writing: prewriting, planning, drafting, revising, and proofreading. When these stages are clearly defined and involve specific skills, language-disabled students can reach beyond their limitations and strengthen their expression. The case study of Jeff reveals the development of his sense of control and his regard for himself as a writer.

Cross-border-assisted reproduction: a qualitative account of UK travellers' experiences.

PubMed

Hudson, Nicky; Culley, Lorraine; Blyth, Eric; Norton, Wendy; Pacey, Allan; Rapport, Frances

2016-06-01

Surveys on patients' experiences of cross-border fertility treatment have reported a range of positive and challenging features. However, the number of such studies is limited, and there is no detailed qualitative account of the experiences of UK patients who travel overseas for fertility treatment. The present study used a cross-sectional, qualitative design and in-depth interviews. Fifty-one participants (41 women and 10 men, representing 41 treatment 'cases') participated in semi-structured interviews. The experiences reported were broadly positive with a large proportion of participants (39 cases, 95%) citing a favourable overall experience with only two cases (5%) reporting a more negative experience. Thematic analysis revealed 6 major categories and 20 sub-categories, which described the positive and challenging aspects of cross-border fertility travel. The positive aspects were represented by the categories: 'access', 'control' and 'care and respect'. The more challenging aspects were categorized as 'logistics and coordination of care', 'uncertainty' and 'cultural dissonance'. The study confirms findings from others that despite some challenges, there is a relatively high level of patient satisfaction with cross-border treatment with participants able to extend the boundaries of their fertility-seeking trajectories and in some cases, regain a sense of control over their treatment.

Altered growth trajectory of head circumference during infancy and schizophrenia in a National Birth Cohort.

PubMed

Brown, Alan S; Gyllenberg, David; Hinkka-Yli-Salomäki, Susanna; Sourander, Andre; McKeague, Ian W

2017-04-01

Identification of abnormalities in the developmental trajectory during infancy of future schizophrenia cases offers the potential to reveal pathogenic mechanisms of this disorder. Previous studies of head circumference in pre-schizophrenia were limited to measures at birth. The use of growth acceleration of head circumference (defined as the rate of change in head circumference) provides a more informative representation of the maturational landscape of this measure compared to studies based on static head circumference measures. To date, however, no study has examined whether HC growth acceleration differs between pre-schizophrenia cases and controls. In the present study, we employed a nested case control design of a national birth cohort in Finland. Cases with schizophrenia or schizoaffective disorder (N=375) and controls (N=375) drawn from the birth cohort were matched 1:1 on date of birth (within 1month), sex, and residence in Finland at case diagnosis. Longitudinal data were obtained on head circumference from birth through age 1. Data were analyzed using a new nonparametric Bayesian inversion method which allows for a detailed understanding of growth dynamics. Adjusting for growth velocity of height and weight, and gestational age, there was significantly accelerated growth of head circumference in females with schizophrenia from birth to 2months; the findings remained significant following Bonferroni correction (p<0.0125). This is the first study to report abnormal HC growth acceleration, a more sensitive measure of somatic developmental deviation of this measure, in schizophrenia. Copyright © 2016 Elsevier B.V. All rights reserved.

[Correlation of infection with the physical and chemical characteristics of gall bladder contents].

PubMed

Sulaberidze, G T; Rachvelishvili, B Kh; Gelbakhiani, G P; Barbakadze, G G; Kapanadze, A G

2005-06-01

The aim of the study was to investigate pH and viscosity (h) of gall bladder contents during cholelithiasis and establishment of their correlation with bacterial and HBV infections. Seventy-eight patients undergone the planned cholecystectomy were investigated. 5 healthy persons (control group) were also involved into the study. In all cases the markers of HBV (Anti-HB core IgG, Anti-HB core IgM, HBsAg) in blood were detected, also bacteriological analysis of gall bladder tissue was performed. In 78 cases (I group) pH of gall bladder contents was measured, in 29 cases (II group), also viscosity of gall was studied. In the control group pH and viscosity were detected. Statistical analysis was performed using ANOVA method. Bacteriological study revealed presence of bacterial infection in gall bladder tissue in 34 cases (43,6%), in 30 patients Anti-HB core antibodies were found in the blood, in 13 cases (16,7%) coincidence of bacterial and HBV infection was documented. Mean indexes of pH and viscosity appeared to be significantly higher in the operated group (pH--7,30, h 2,1 mm(2)/sec), then in the control group (pH--6,74, h--1,34 mm(2)/sec); this indexes were highest in the infected patients. Thus, according to results of the study, changes of pH and viscosity of gall bladder contents could be considered as the useful indexes of initial stage of cholelithiasis and their values depend on the presence of bacterial or HBV infection of gall bladder.

Demographic and Clinical Profile of Patients With Dementia Receiving Electroconvulsive Therapy: A Case-Control Study.

PubMed

Zhang, Qing-E; Sha, Sha; Ungvari, Gabor S; Chiu, Helen F K; Ng, Chee H; He, Hong-Bo; Forester, Brent P; Xiang, Yu-Tao

2016-09-01

Little is known about the clinical characteristics of patients with dementia receiving electroconvulsive therapy (ECT) for the treatment of behavioral symptoms. This study examined the demographic and clinical profile of patients with dementia receiving ECT in China. This was a retrospective, case-control study. The sample was composed of 23 patients with dementia treated with ECT and 71 sex- and age-matched controls treated for a period of 8 years (2007-2014) at the National Clinical Research Centre of Mental Disorders, China. Sociodemographic and clinical data were collected from the electronic chart management system. Multiple logistic regression analysis revealed that ECT was independently associated with high risk for suicide at admission. The recorded indications for ECT included both high risk for suicide and aggressive behavior. Most patients responded to ECT satisfactorily (56.5%) or partially (34.8%) with only mild-moderate transient memory impairment (30.4%). Although this is a preliminary study limited by the retrospective design and small sample size, findings suggest that ECT is an effective and safe therapeutic intervention to reduce the risk for suicide and aggressive behavior in dementia.

Understanding enrolment in community health insurance in sub-Saharan Africa: a population-based case-control study in rural Burkina Faso.

PubMed Central

De Allegri, Manuela; Kouyaté, Bocar; Becher, Heiko; Gbangou, Adjima; Pokhrel, Subhash; Sanon, Mamadou; Sauerborn, Rainer

2006-01-01

OBJECTIVE: To identify factors associated with decision to enrol in a community health insurance (CHI) scheme. METHODS: We conducted a population-based case-control study among 15 communities offered insurance in 2004 in rural Burkina Faso. For inclusion in the study, we selected all 154 enrolled (cases) and a random sample of 393 non-enrolled (controls) households. We used unconditional logistic regression (applying Huber-White correction to account for clustering at the community level) to explore the association between enrolment status and a set of household head, household and community characteristics. FINDINGS: Multivariate analysis revealed that enrolment in CHI was associated with Bwaba ethnicity, higher education, higher socioeconomic status, a negative perception of the adequacy of traditional care, a higher proportion of children living within the household, greater distance from the health facility, and a lower level of socioeconomic inequality within the community, but not with household health status or previous household health service utilization. CONCLUSION: Our study provides evidence that the decision to enrol in CHI is shaped by a combination of household head, household, and community factors. Policies aimed at enhancing enrolment ought to act at all three levels. On the basis of our findings, we discuss specific policy recommendations and highlight areas for further research. PMID:17143458

Whole genome sequence revealed the fine transmission map of carbapenem-resistant Klebsiella pneumonia isolates within a nosocomial outbreak.

PubMed

Sui, Wenjun; Zhou, Haijian; Du, Pengcheng; Wang, Lijun; Qin, Tian; Wang, Mei; Ren, Hongyu; Huang, Yanfei; Hou, Jing; Chen, Chen; Lu, Xinxin

2018-01-01

Carbapenem-resistant Klebsiella pneumoniae (CRKP) is a major cause of nosocomial infections worldwide. The transmission route of CRKP isolates within an outbreak is rarely described. This study aimed to reveal the molecular characteristics and transmission route of CRKP isolates within an outbreak of nosocomial infection. Collecting case information, active screening and targeted environmental monitoring were carried out. The antibiotic susceptibility, drug-resistant genes, molecular subtype and whole genome sequence of CRKP strains were analyzed. Between October and December 2011, 26 CRKP isolates were collected from eight patients in a surgical intensive care unit and subsequent transfer wards of Beijing Tongren hospital, China. All 26 isolates harbored bla KPC-2 , bla SHV-1 , and bla CTX-M-15 genes, had the same or similar pulsed-field gel electrophoresis patterns, and belonged to the sequence type 11 (ST11) clone. By comprehensive consideration of genomic and epidemiological information, a putative transmission map was constructed, including identifying one case as an independent event distinct from the other seven cases, and revealing two transmissions starting from the same case. This study provided the first report confirming an outbreak caused by K. pneumoniae ST11 clone co-harboring the bla KPC-2 , bla CTX-M-15 , and bla SHV-1 genes, and suggested that comprehensive consideration of genomic and epidemiological data can yield a fine transmission map of an outbreak and facilitate the control of nosocomial transmission.

NFKB1 -94insertion/deletion ATTG polymorphism and cancer risk: Evidence from 50 case-control studies.

PubMed

Fu, Wen; Zhuo, Zhen-Jian; Chen, Yung-Chang; Zhu, Jinhong; Zhao, Zhang; Jia, Wei; Hu, Jin-Hua; Fu, Kai; Zhu, Shi-Bo; He, Jing; Liu, Guo-Chang

2017-02-07

Nuclear factor-kappa B1 (NF-κB1) is a pleiotropic transcription factor and key contributor to tumorigenesis in many types of cancer. Numerous studies have addressed the association of a functional insertion (I)/deletion (D) polymorphism (-94ins/delATTG, rs28362491) in the promoter region of NFKB1 gene with the risk of various types of cancer; however, their conclusions have been inconsistent. We therefore conducted a meta-analysis to reevaluate this association. PubMed, EMBASE, China National Knowledge infrastructure (CNKI), and WANFANG databases were searched through July 2016 to retrieve relevant studies. After careful assessment, 50 case-control studies, comprising 18,299 cases and 23,484 controls were selected. Crude odds ratios (ORs) and 95% confidence intervals (CIs) were used to determine the strength of the association. The NFKB1 -94ins/delATTG polymorphism was associated with a decreased risk of overall cancer in the homozygote model (DD vs. II): OR = 0.75, 95% CI = 0.64-0.87); heterozygote model (ID vs. II): OR = 0.91, 95% CI = 0.83-0.99; recessive model (DD vs. ID/II): OR = 0.81, 95% CI = 0.71-0.91; dominant model (ID/DD vs. II): OR = 0.86, 95% CI = 0.78-0.95; and allele contrast model (D vs. I): OR = 0.88, 95% CI = 0.81-0.95). Subgroup and stratified analyses revealed decreased risks for lung cancer, nasopharyngeal carcinoma, prostate cancer, ovarian cancer, and oral squamous cell carcinoma, and this association held true also for Asians (especially Chinese subjects) in hospital-based studies, and in studies with quality scores less than nine. Well-designed, large-scale case-control studies are needed to confirm these results.

Prevalence and Risk Factors of Esophageal Candidiasis in Healthy Individuals: A Single Center Experience in Korea

PubMed Central

Choi, Jae Hyeuk; Lee, Chang Geun; Kang, Hyoun Woo; Lim, Chi Yeon; Choi, Jong-Sun

2013-01-01

Purpose Esophageal candidiasis (EC) is the most frequent opportunistic fungal infection in immunocompromised host. However, we have found EC in healthy individuals through esophagogastroduodenoscopy (EGD). The aim of this study was to determine the prevalence and risk factors for EC in healthy individuals. Materials and Methods We retrospectively reviewed the medical records of 281 patients who had been incidentally diagnosed with EC. We also conducted age and sex matched case control study to identify the risk factor for EC. Results The prevalence of EC was 0.32% (281/88125). The most common coexisting EGD finding was reflux esophagitis (49/281, 17.4%). An antifungal agent was prescribed in about half of EC, 139 cases (49.5%). Follow-up EGD was undertaken in 83 cases (29.5%) and 20 cases of candidiasis was persistently found. Case control study revealed EC were more often found in user of antibiotics (p=0.015), corticosteroids (p=0.002) and herb medication (p=0.006) as well as heavy drinking (p<0.001). Conclusion The prevalence of EC was 0.32% (281/88125) in Korea. Use of antibiotics, corticosteroids and herb as well as heavy drinking were significant risk factors for EC in healthy individuals. PMID:23225813

A genome-wide assessment of rare copy number variants in colorectal cancer.

PubMed

Li, Zhenli; Yu, Dan; Gan, Meifu; Shan, Qiaonan; Yin, Xiaoyang; Tang, Shunli; Zhang, Shuai; Shi, Yongyong; Zhu, Yimin; Lai, Maode; Zhang, Dandan

2015-09-22

Colorectal cancer (CRC) is a complex disease with an estimated heritability of approximately 35%. However, known CRC-related common single nucleotide polymorphisms (SNPs) can only explain ~0.65% of the heritability. This "missing heritability" may be explained partially by rare copy number variants (CNVs). In this study, we performed a genome-wide scan using Illumina Human-Omni Express BeadChip, 694 sporadic CRC cases and 1641 controls were eventually included in our analysis after quality control. The global burden analysis revealed a 1.53-fold excess of rare CNVs in CRC cases compared with controls (P < 1 × 10(-6)), and the difference being more pronounced for genic rare CNVs and CNVs overlapped with coding regions (1.65-fold and 1.84-fold, respectively, both P < 1 × 10(-6)). Interestingly, both the cases in the lowest and middle tertile of age carried a higher burden of rare CNVs comparing to the highest tertile. Furthermore, 639 CNV-disrupted genes exclusive to CRC cases were found to be significantly enriched in gene ontology (GO) terms concerning nucleosome assembly and olfactory receptor activity. Our study was the first to evaluate the burden of rare CNVs in sporadic CRC and suggested that rare CNVs contributed to the missing heritability of CRC.

Seropositivity for the human heat shock protein (Hsp)60 accompanying seropositivity for Chlamydia trachomatis is less prevalent among tubal ectopic pregnancy cases than individuals with normal reproductive history.

PubMed

Ozyurek, Eser S; Karacan, Tolga; Ozdalgicoglu, Cenk; Yilmaz, Salih; Isik, Salman; San, Mevlide; Kaya, Erdal

2018-04-01

To investigate the role of anti-human heat shock protein 60 (hHsp60) antibody positivity in the pathogenesis of ectopic pregnancy, following Chlamydia trachomatis (CT) infection. In a case-control study, serological tests for anti-hHsp60 were performed in ectopic pregnancies (study group) and parturients with normal reproductive histories (control group). All participants in both groups were CT IgG(+). hHsp60 IgG(+) prevalences were compared between the two groups, by semiquantitative ELISA. Data were evaluated using nonparametric and parametric tests and multivariable regression. After an initial pilot study, two groups were formed: 63 ectopic gestations (study group) and 95 normal parturients (control group), all CT IgG(+). Blood samples from all cases were tested for anti-hHsp60 IgG. Age, gravidity, and practising contraception were higher in the control group, while a history of pelvic infections were more common in the study group. Hsp60 IgG(+) was found to be significantly higher in the control group (63/95, 66.3%) compared to study group (30/63, 47.6%). Regression analysis revealed anti-hHsp60 positivity was an independent factor delineating the two groups. Immunity to hHsp60 is less common in CT IgG(+) ectopic pregnancies than CT IgG(+) fertile subjects without a history of ectopic pregnancies. Hence, our findings suggest that hHsp60 seropositivity may decrease the probability of an ectopic gestation in subjects with previous CT infections. Copyright © 2018 Elsevier B.V. All rights reserved.

Compulsive buying in bipolar disorder: is it a comorbidity or a complication?

PubMed

Kesebir, Sermin; Işitmez, Sema; Gündoğar, Duru

2012-02-01

The objective of this study was to investigate the frequency of compulsive buying in bipolar disorder (BD), to compare it with healthy controls, and to search if there is a difference between bipolar cases with and without compulsive buying in terms of sociodemographic qualities, temperament, clinical characteristics and comorbid diagnoses. One-hundred outpatient cases diagnosed as BD according to DSM-IV were evaluated consecutively. Following the diagnosis interview (SCID-I and II) the subjects completed the mood disorders registry form, Compulsive Buying Scale and TEMPS-A. Compulsive buying scores were higher in bipolar patients than healthy controls (p<0.001). Cases with compulsive buying revealed higher cyclothymic and irritable temperament scores than other bipolar patients (p=0.029 vs 0.045). Premenstrual syndrome and postpartum onset were more frequent, while psychotic symptoms were less in compulsive buyer bipolar patients (p=0.002, 0.009 vs 0.034). Severity of episode was lower (p=0.01), number of episodes was higher (p=0.009). Acute onset and remission before and after maintenance treatment were more frequent in patients with compulsive buying (p=0.011 and p=0.011). Full remission between episodes was 100%. Cases with axis-1 and axis-2 comorbidities demonstrated higher compulsive buying scores (p=0.025 and 0.005). Treatment regimen differences between patients are a limitation of the study. This is the first study to relate compulsive buying with the clinical characteristics of BD. Our results reveal that compulsive buying in BD occurs together with mood episodes which are not very severe, but frequent and with abrupt onset. Copyright © 2011 Elsevier B.V. All rights reserved.

Body Mass Index and Breast Cancer Risk among Thai Premenopausal Women: a Case-Control Study

PubMed Central

Chaveepojnkamjorn, Wisit; Thotong, Rungsinoppadol; Sativipawee, Pratana; Pitikultang, Supachai

2017-01-01

Background: Breast cancer (BC) is the leading malignancy in women with high incidence and mortality worldwide. Obesity is one of several established risk factors for chronic diseases including cancer. The objective of this research was to determine the association of body mass index (BMI) with BC among Thai premenopausal women (TPW). Materials and Methods: A case-control study was conducted among TPW attending the National Cancer Institute in Bangkok, with 257 cases and 257 controls in 2013-2014. Cases and controls were matched by age (± 5 years), residential area and duration of attending. Data were collected with a questionnaire comprising 2 parts: part 1 socio-demographic characteristics, and part 2 health risk behavior and reproductive factors and BMI. The obtained data were analyzed using descriptive and analytic statistics with a computerized statistical package. Results: The study participants were mainly 40-44 years old (60 %) with an average age of 39 years. The major type of BC was the invasive ductal carcinoma (91.8%). On univariate analysis, risk factors for BC among the TPW were family history of BC, history of benign breast tumors, younger age at menarche, parity, miscarriage, contraceptive use, passive smoking, multivitamin use, and BMI (p<0.05). Multivariable conditional logistic regression analysis, controlling for possible confounding factors, revealed that a BMI 25-29.9 and ≥ 30 kg/m2 increased the risk of BC by a factor of 2.09 and 2.37 times, respectively (OR=2.09, 95%CI =1.09-3.97; OR=2.37, 95%CI =1.24-10.06). Conclusions: A surveillance system of obesity should be conducted in cooperation with information regarding physical activities and weight control among TPW as an essential measure to reduce BC risk. PMID:29172285

Risk factors associated with incidence and persistence of signs and symptoms of temporomandibular disorders.

PubMed

Marklund, Susanna; Wänman, Anders

2010-09-01

To analyze whether gender, self-reported bruxism, and variations in dental occlusion predicted incidence and persistence of temporomandibular disorder (TMD) during a 2-year period. The study population comprised 280 dental students at Umeå University in Sweden. The study design was that of a case-control study within a 2-year prospective cohort. The investigation comprised a questionnaire and a clinical examination at enrolment and at 12 and 24 months. Cases (incidence) and controls (no incidence) were identified among those without signs and symptoms of TMD at the start of the study. Cases with 2-year persistence of signs and symptoms of TMD were those with such signs and symptoms at all three examinations. Clinical registrations of baseline variables were used as independent variables. Odds ratio estimates and 95% confidence intervals of the relative risks of being a case or control in relation to baseline registrations were calculated using logistic regression analyses. The analyses revealed that self-reported bruxism and crossbite, respectively increased the risk of the 2-year cumulative incidence and duration of temporomandibular joint (TMJ) signs or symptoms. Female gender was related to an increased risk of developing and maintaining myofascial pain. Signs of mandibular instability increased the risk of maintained TMD signs and symptoms during the observation period. This 2-year prospective observational study indicated that self-reported bruxism and variations in dental occlusion were linked to the incidence and persistence of TMJ signs and symptoms to a higher extent than to myofascial pain.

HYPERTHYROIDISM AND HYPERPROLACTINEMIA: IS THERE ANY ASSOCIATION?

PubMed

Sanjari, Mojgan; Safi, Zohreh; Tahroodi, Khatereh Mohammadi

2016-12-01

To compare the serum prolactin level in hyperthyroid and normal control females. Hyperthyroidism is a common disease. Although a direct association has been demonstrated between hypothyroidism and increased prolactin levels, this association has not been established for hyperthyroidism. Cross-sectional study in cases and control groups. Control subjects were chosen from those participating in the Kerman Coronary Artery Disease Risk Factors study. To select the cases, all women referred to the laboratories of Kerman with a thyroid-stimulating hormone (TSH) level ≤0.5 mIU/L who met the inclusion criteria were entered in the study. A total of 231 women aged 15 to 50 years were enrolled. The case group included 71 hyperthyroid women, and the control group included 160 women with normal thyroid function matched by age. The mean (SD) serum level of prolactin was 16.56 (0.97) ng/mL (95% confidence interval [CI], 15.41 ng/mL to 15.71 ng/mL) in the controls and 23.07 (1.49) ng/mL (95% CI, 22.7 ng/mL to 23.4 ng/mL) in the case subjects. Hyperprolactinemia was more common in the hyperthyroid group (16.5 [0.97] ng/mL versus 23.07 [1.49] ng/mL; P<.001). The prolactin level decreased with age. Hyperthyroidism and estradiol increased the prolactin level. After adjusting for age and estradiol, hyperthyroidism increased the serum prolactin level (P<.001). The results of this study revealed that hyperprolactinemia is more frequent in hyperthyroid females. Serum prolactin level can be increased in hyperthyroidism. PRL = prolactin T4 = thyroxine TRH = thyrotropin-releasing hormone TSH = thyroid-stimulating hormone.

Genomewide association studies of suicide attempts in US soldiers.

PubMed

Stein, Murray B; Ware, Erin B; Mitchell, Colter; Chen, Chia-Yen; Borja, Susan; Cai, Tianxi; Dempsey, Catherine L; Fullerton, Carol S; Gelernter, Joel; Heeringa, Steven G; Jain, Sonia; Kessler, Ronald C; Naifeh, James A; Nock, Matthew K; Ripke, Stephan; Sun, Xiaoying; Beckham, Jean C; Kimbrel, Nathan A; Ursano, Robert J; Smoller, Jordan W

2017-12-01

Suicide is a global public health problem with particular resonance for the US military. Genetic risk factors for suicidality are of interest as indicators of susceptibility and potential targets for intervention. We utilized population-based nonclinical cohorts of US military personnel (discovery: N = 473 cases and N = 9778 control subjects; replication: N = 135 cases and N = 6879 control subjects) and a clinical case-control sample of recent suicide attempters (N = 51 cases and N = 112 control subjects) to conduct GWAS of suicide attempts (SA). Genomewide association was evaluated within each ancestral group (European-, African-, Latino-American) and study using logistic regression models. Meta-analysis of the European ancestry discovery samples revealed a genomewide significant locus in association with SA near MRAP2 (melanocortin 2 receptor accessory protein 2) and CEP162 (centrosomal protein 162); 12 genomewide significant SNPs in the region; peak SNP rs12524136-T, OR = 2.88, p = 5.24E-10. These findings were not replicated in the European ancestry subsamples of the replication or suicide attempters samples. However, the association of the peak SNP remained significant in a meta-analysis of all studies and ancestral subgroups (OR = 2.18, 95%CI 1.70, 2.80). Polygenic risk score (PRS) analyses showed some association of SA with bipolar disorder. The association with SNPs encompassing MRAP2, a gene expressed in brain and adrenal cortex and involved in neural control of energy homeostasis, points to this locus as a plausible susceptibility gene for suicidality that should be further studied. Larger sample sizes will be needed to confirm and extend these findings. © 2017 Wiley Periodicals, Inc.

Dextromethorphan Abuse in Adolescence

PubMed Central

Bryner, Jodi K.; Wang, Uerica K.; Hui, Jenny W.; Bedodo, Merilin; MacDougall, Conan; Anderson, Ilene B.

2008-01-01

Objectives To analyze the trend of dextromethorphan abuse in California and to compare these findings with national trends. Design A 6-year retrospective review. Setting California Poison Control System (CPCS), American Association of Poison Control Centers (AAPCC), and Drug Abuse Warning Network (DAWN) databases from January 1, 1999, to December 31, 2004. Participants All dextromethorphan abuse cases reported to the CPCS, AAPCC, and DAWN. The main exposures of dextromethorphan abuse cases included date of exposure, age, acute vs long-term use, coingestants, product formulation, and clinical outcome. Main Outcome Measure The annual proportion of dextromethorphan abuse cases among all exposures reported to the CPCS, AAPCC, and DAWN databases. Results A total of 1382 CPCS cases were included in the study. A 10-fold increase in CPCS dextromethorphan abuse cases from 1999 (0.23 cases per 1000 calls) to 2004 (2.15 cases per 1000 calls) (odds ratio, 1.48; 95% confidence interval, 1.43–1.54) was identified. Of all CPCS dextromethorphan abuse cases, 74.5% were aged 9 to 17 years; the frequency of cases among this age group increased more than 15-fold during the study (from 0.11 to 1.68 cases per 1000 calls). Similar trends were seen in the AAPCC and DAWN databases. The highest frequency of dextromethorphan abuse occurred among adolescents aged 15 and 16 years. The most commonly abused product was Coricidin HBP Cough & Cold Tablets. Conclusions Our study revealed an increasing trend of dextromethorphan abuse cases reported to the CPCS that is paralleled nationally as reported to the AAPCC and DAWN. This increase was most evident in the adolescent population. PMID:17146018

Pneumocystis pneumonia outbreak among renal transplant recipients at a North American transplant center: Risk factors and implications for infection control.

PubMed

Mulpuru, Sunita; Knoll, Greg; Weir, Colleen; Desjardins, Marc; Johnson, Daniel; Gorn, Ivan; Fairhead, Todd; Bissonnette, Janice; Bruce, Natalie; Toye, Baldwin; Suh, Kathryn; Roth, Virginia

2016-04-01

Pneumocystis pneumonia is a severe opportunistic fungal infection. Outbreaks among renal transplant recipients have been reported in Europe and Japan, but never in North America. We conducted a retrospective case-control study among adult renal transplant recipients at a Canadian center, using a 3:1 matching scheme. Ten cases and 30 controls were matched based on initial transplantation date, and all patients received prophylaxis with trimethoprim-sulfamethoxazole for 1 year posttransplantation. The median time between transplantation and infection was 10.2 years, and all patients survived. Compared with controls, case patients had statistically lower estimated glomerular filtration rate (29.3 mL/min vs 66.3 mL/min; P = .028) and lymphopenia (0.51 × 10(9)/L vs 1.25 × 10(9)/L; P = .002). Transmission mapping revealed significant overlap in the clinic and laboratory visits among case vs control patients (P = .0002). One hundred percent of patients (4 out of 4) successfully genotyped had the same strain of Pneumocystis jirovecii. Our study demonstrated an outbreak of pneumocystis more than 10 years following initial transplantation, despite using recommended initial prophylaxis. We identified low estimated glomerular filtration rate and lymphopenia as risk factors for infection. Overlapping ambulatory care visits were identified as important potential sources of infection transmission, suggesting that institutions should re-evaluate policy and infrastructure strategies to interrupt transmission of respiratory pathogens. Copyright © 2016 Association for Professionals in Infection Control and Epidemiology, Inc. Published by Elsevier Inc. All rights reserved.

On the Origin and Preservation of Cumulative Record in Its Struggle for Life as a Favored Term

ERIC Educational Resources Information Center

Morris, Edward K.; Smith, Nathaniel G.

2004-01-01

This paper offers a case study of the origins, emergence, and evolution of the term "cumulative record" as the name for the means by which B. F. Skinner brought his behavior under the control of his subject matter. Our methods included on-line searches, reviews of Skinner's publications, and journal codings and counts. The results reveal that the…

Climatic droplet keratopathy, exfoliation syndrome, and cataract.

PubMed Central

Resnikoff, S; Filliard, G; Dell'Aquila, B

1991-01-01

During a countrywide survey we assessed the prevalence of climatic droplet keratopathy (CDK) in a randomised sample of 2446 subjects representative of the population of the Republic of Djibouti. The investigation of the relationship between CDK and two diseases considered to be related to exposure to ultra-violet light--namely, exfoliation syndrome and cataract--was planned as a case control study. In the rural area prevalence of CDK was five times higher than in the urban one (2.8% vs 0.5%) and varied according to districts. The highest rates were observed where the inhabitants' activities were related to the sea. The case control study revealed that the opacification of the lens was about three times commoner in patients with CDK than in patients without CDK (p = 0.03) and that the exfoliation syndrome was about six times commoner in patients with CDK than in controls of similar age, sex, climatic conditions, and lens status (p = 0.02). Moreover, we noticed that the sequelae of corneal perforations were about 30 times commoner in patients with CDK than in controls of similar age (p less than 0.00001). PMID:1768663

An assessment of the effectiveness of tobacco control measures on behavior changes related to tobacco use among adolescents and young adults in a district in Sri Lanka.

PubMed

De Silva, W D; Sinha, D N; Kahandawaliyanag, A

2012-01-01

Sri Lanka became a signatory to the WHO Frame Work Convention on Tobacco Control in September 2003, and this was ratified in November 2003. With a view to reduce the use of tobacco in Sri Lanka, the National Authority on Tobacco and Alcohol Act (NATA) No. 27 of 2006 was implemented. To assess the behavior changes related to tobacco use among adolescents and young adults following exposure to tobacco control measures were implemented by NATA. A case-control study was conducted on 42 adolescent (aged 13-19 years) and 156 young adult (aged 20-39 years) men living in Anuradhapura Divisional Secretary area in Sri Lanka. Cases (current quitters) and controls (current smokers) were compared to ascertain the outcome following the exposure to tobacco control measures. A self-administered questionnaire and focus group discussions were used to ascertain the exposure status in cases and controls. Confounding was controlled by stratification and randomization. Univariate analysis was performed by Backward Stepwise (Likelihood Ratio) method. Among 198 respondents, 66 (27.3% adolescents and 72.7% young adults) were quitters, while 132 smokers (18.2% adolescents and 81.8% young adults) were current smokers. Exposure to the anti-smoking media messages revealed that TV was the strongest media that motivated smokers to quit smoking. Majority (66%) of cases and control were not exposed to tobacco promotion advertisements, while 47% of the cases and 50% of the control had never seen tobacco advertisements during community events. All cases (66) as well as 89% (118) of the control had not noticed competitions or prizes sponsored by tobacco industry during last year ( P = 0.13). Tobacco control measures implemented by NATA had a favorable influence on behavior change related to smoking among quitters and current smokers.

Autism training in pediatric residency: evaluation of a case-based curriculum.

PubMed

Major, Nili E; Peacock, Georgina; Ruben, Wendy; Thomas, Jana; Weitzman, Carol C

2013-05-01

Despite recent studies indicating the high prevalence of autism spectrum disorders (ASDs), there has been little focus on improving ASD education during pediatric residency training. The objective of this study was to evaluate a new curriculum developed in partnership with the Centers for Disease Control and Prevention and the Maternal and Child Health Bureau about ASDs. "Autism Case Training (ACT): A Developmental-Behavioral Pediatrics Curriculum" consists of 7 case-based teaching modules. Modules were facilitated by faculty at 26 pediatric residency programs and data were obtained on 114 residents. Pre- and post-test data revealed significant short-term improvements in residents' knowledge and self-assessed competence regarding ASDs. Findings suggest that the ACT curriculum is effective in enhancing training about ASDs in pediatric residency programs.

Serum Vitamin D Is Significantly Inversely Associated with Disease Severity in Caucasian Adults with Obstructive Sleep Apnea Syndrome.

PubMed

Kerley, Conor P; Hutchinson, Katrina; Bolger, Kenneth; McGowan, Aisling; Faul, John; Cormican, Liam

2016-02-01

To evaluate vitamin D (25(OH)D) levels in obstructive sleep apnea syndrome (OSAS) and possible relationships to OSAS severity, sleepiness, lung function, nocturnal heart rate (HR), and body composition. We also aimed to compare the 25(OH)D status of a subset of OSAS patients compared to controls matched for important determinants of both OSAS and vitamin D deficiency (VDD). This was a cross-sectional study conducted at an urban, clinical sleep medicine outpatient center. We recruited newly diagnosed, Caucasian adults who had recently undergone nocturnal polysomnography. We compared body mass index (BMI), body composition (bioelectrical impedance analysis), neck circumference, sleepiness (Epworth Sleepiness Scale), lung function, and vitamin D status (serum 25-hydrpoxyvitamin D (25(OH)D) across OSAS severity categories and non-OSAS subjects. Next, using a case-control design, we compared measures of serum 25(OH)D from OSAS cases to non-OSAS controls who were matched for age, gender, skin pigmentation, sleepiness, season, and BMI. 106 adults (77 male; median age = 54.5; median BMI = 34.3 kg/m(2)) resident in Dublin, Ireland (latitude 53°N) were recruited and categorized as non-OSAS or mild/moderate/severe OSAS. 98% of OSAS cases had insufficient 25(OH)D (< 75 nmol/L), including 72% with VDD (< 50 nmol/L). 25(OH)D levels decreased with OSAS severity (P = 0.003). 25(OH)D was inversely correlated with BMI, percent body fat, AHI, and nocturnal HR. Subsequent multivariate regression analysis revealed that 25(OH)D was independently associated with both AHI (P = 0.016) and nocturnal HR (P = 0.0419). Our separate case-control study revealed that 25(OH)D was significantly lower in OSAS cases than matched, non-OSAS subjects (P = 0.001). We observed widespread vitamin D deficiency and insufficiency in a Caucasian, OSAS population. There were significant, independent, inverse relationships between 25(OH)D and AHI as well as nocturnal HR, a known cardiovascular risk factor. Further, 25(OH)D was significantly lower in OSAS cases compared to matched, non-OSAS subjects. We provide evidence that 25(OH)D and OSAS are related, but the role, if any, of replenishment has not been investigated. © 2016 Associated Professional Sleep Societies, LLC.

Mountain biking injuries: a review.

PubMed

Carmont, Michael R

2008-01-01

Mountain biking is a fast, exciting adventure sport with increasing numbers of participants and competitions. A search of PubMed, Medline, CINAHL, DH data, and Embase databases was performed using the following keywords: mountain, biking and injuries. This revealed 2 review articles, 17 case controlled studies, 4 case series and 5 case reports. This review summarises the published literature on mountain biking injuries, discusses injury frequency and common injury mechanisms. Riders are quick to adopt safety measures. Helmet usage is now increasingly common and handlebar adaptations have been discontinued. Although the sport has a reputation for speed and risk with research and awareness, injury prevention measures are being adopted making the sport as safe as possible.

Plasma ET-1 Concentrations are Elevated in Patients with Hypertension - Meta-Analysis of Clinical Studies.

PubMed

Xu, Mei; Lu, Yong-Ping; Hasan, Ahmed Abdallah; Hocher, Berthold

2017-01-01

A recent study revealed that global overexpression of ET-1 causes a slight reduction in systemic blood pressure. Moreover, heterozygous ET-1 knockout mice are hypertensive. The role of ET-1 in human hypertension was so far not addressed by a strict meta-analysis of published human clinical studies. We included studies published between January 1, 1990 and February 28, 2017. We included case control studies analyzing untreated essential hypertension or hypertensive patients where antihypertensive medication was discontinued for at least two weeks. Based on the principle of Cochrane systematic reviews, case control studies (CCSs) in PubMed (Medline) and Google Scholar designed to identify the role of endothelin-1 (ET-1) in the pathophysiological of hypertension were screened. Review Manager Version 5.0 (Rev-Man 5.0) was applied for statistical analysis. Mean difference and 95% confidence interval (CI) were shown in inverse variance (IV) fixed-effects model or IV random-effects models. Eleven studies fulfilling our in- and exclusion criteria were eligible for this meta-analysis. These studies included 450 hypertensive patients and 328 controls. Our meta-analysis revealed that ET-1 plasma concentrations were higher in hypertensive patients as compared to the control patients [mean difference between groups 1.57 pg/mL, 95%CI [0.47∼2.68, P = 0.005]. These finding were driven by patients having systolic blood pressure higher than 160 mmHg and diastolic blood pressure higher than 100 mmHg. This meta-analysis showed that hypertensive patients do have elevated plasma ET-1 concentrations. This finding is driven by those patients with high systolic/diastolic blood pressure. Given that the ET-1 gene did not appear in any of the whole genome association studies searching for hypertension associated gene loci, it is very likely that the elevated plasma ET-1 concentrations in hypertensive patients are secondary to hypertension and may reflect endothelial cell damage. © 2017 The Author(s). Published by S. Karger AG, Basel.

No association between the sigma receptor type 1 gene and schizophrenia: results of analysis and meta-analysis of case-control studies

PubMed Central

Uchida, Naohiko; Ujike, Hiroshi; Nakata, Kenji; Takaki, Manabu; Nomura, Akira; Katsu, Takeshi; Tanaka, Yuji; Imamura, Takaki; Sakai, Ayumu; Kuroda, Shigetoshi

2003-01-01

Background Several lines of evidence have supported possible roles of the sigma receptors in the etiology of schizophrenia and mechanisms of antipsychotic efficacy. An association study provided genetic evidence that the sigma receptor type 1 gene (SIGMAR1) was a possible susceptibility factor for schizophrenia, however, it was not replicated by a subsequent study. It is necessary to evaluate further the possibility that the SIGMAR1 gene is associated with susceptibility to schizophrenia. Methods A case-control association study between two polymorphisms of the SIGMAR1 gene, G-241T/C-240T and Gln2Pro, and schizophrenia in Japanese population, and meta-analysis including present and previous studies. Results There was no significant association of any allele or genotype of the polymorphisms with schizophrenia. Neither significant association was observed with hebephrenic or paranoid subtype of schizophrenia. Furthermore, a meta-analysis including the present and previous studies comprising 779 controls and 636 schizophrenics also revealed no significant association between the SIGMAR1 gene and schizophrenia. Conclusion In view of this evidence, it is likely that the SIGMAR1 gene does not confer susceptibility to schizophrenia. PMID:14567761

No association between the sigma receptor type 1 gene and schizophrenia: results of analysis and meta-analysis of case-control studies.

PubMed

Uchida, Naohiko; Ujike, Hiroshi; Nakata, Kenji; Takaki, Manabu; Nomura, Akira; Katsu, Takeshi; Tanaka, Yuji; Imamura, Takaki; Sakai, Ayumu; Kuroda, Shigetoshi

2003-10-21

Several lines of evidence have supported possible roles of the sigma receptors in the etiology of schizophrenia and mechanisms of antipsychotic efficacy. An association study provided genetic evidence that the sigma receptor type 1 gene (SIGMAR1) was a possible susceptibility factor for schizophrenia, however, it was not replicated by a subsequent study. It is necessary to evaluate further the possibility that the SIGMAR1 gene is associated with susceptibility to schizophrenia. A case-control association study between two polymorphisms of the SIGMAR1 gene, G-241T/C-240T and Gln2Pro, and schizophrenia in Japanese population, and meta-analysis including present and previous studies. There was no significant association of any allele or genotype of the polymorphisms with schizophrenia. Neither significant association was observed with hebephrenic or paranoid subtype of schizophrenia. Furthermore, a meta-analysis including the present and previous studies comprising 779 controls and 636 schizophrenics also revealed no significant association between the SIGMAR1 gene and schizophrenia. In view of this evidence, it is likely that the SIGMAR1 gene does not confer susceptibility to schizophrenia.

Paternal psychosocial work conditions and mental health outcomes: A case-control study

PubMed Central

Maggi, Stefania; Ostry, Aleck; Tansey, James; Dunn, James; Hershler, Ruth; Chen, Lisa; Hertzman, Clyde

2008-01-01

Background The role of social and family environments in the development of mental health problems among children and youth has been widely investigated. However, the degree to which parental working conditions may impact on developmental psychopathology has not been thoroughly studied. Methods We conducted a case-control study of several mental health outcomes of 19,833 children of sawmill workers and their association with parental work stress, parental socio-demographic characteristics, and paternal mental health. Results Multivariate analysis conducted with four distinct age groups (children, adolescents, young adults, and adults) revealed that anxiety based and depressive disorders were associated with paternal work stress in all age groups and that work stress was more strongly associated with alcohol and drug related disorders in adulthood than it was in adolescence and young adulthood. Conclusion This study provides support to the tenet that being exposed to paternal work stress during childhood can have long lasting effects on the mental health of individuals. PMID:18377651

Cervical cancer in Indian women reveals contrasting association among common sub-family of HLA class I alleles.

PubMed

Gokhale, Priyanka; Mania-Pramanik, Jayanti; Sonawani, Archana; Idicula-Thomas, Susan; Kerkar, Shilpa; Tongaonkar, Hemant; Chaudhari, Hemangi; Warke, Himangi; Salvi, Vinita

2014-12-01

We studied the relationship between human leukocyte antigen (HLA) class I alleles and cervical cancer among Indian women. Seventy-five cervical cancer cases were compared with 175 noncancer controls. Cervical biopsy tissue specimen from cancer cases and cervical swab specimen from controls were collected for HPV detection and typing. Blood was taken for HLA typing by PCR-SSOP method. The impact of HLA class I alleles on cervical cancer risk was evaluated using StatCalc program (Epi Info version 6.0.4. CDC Atlanta, GA, USA), and confirmed with Bonferroni correction. Results revealed HLA-B*37, HLA-B*58 were associated significantly with increased risk while HLA-B*40 with decreased risk for cervical cancer. At high-resolution analysis after Bonferroni correction, HLA-B*37:01 allele was associated with increased risk, whereas HLA-B*40:06 was with decreased risk for cervical cancer. HLA-B*37:01 and HLA-B*40:06 belong to the same superfamily of HLA-B44. In silico analysis revealed different binding affinities of HLA-B*37:01 and HLA-B*40:06 for the epitopes predicted for E6 and L1 proteins of HPV16. The higher binding affinity of epitopes to B*40:06, as revealed by docking studies, supports the hypothesis that this allele is able to present the antigenic peptides more efficiently than B*37:01 and thereby can protect the carriers from the risk of cervical cancer. Thus, there is a clear indication that HLA plays an important role in the development of cervical cancer in HPV-infected women. Identification of these factors in high-risk HPV-infected women may help in reducing the cervical cancer burden in India.

Till receipts--a new approach for investigating outbreaks? Evaluation during a large Salmonella Enteritidis phage type 14b outbreak in a North West London takeaway restaurant, September 2009.

PubMed

Zenner, D; Zoellner, J; Charlett, A; Marmairis, W; Lane, C; Chow, J Y

2014-07-10

Selecting suitable controls for outbreak investigations is often difficult and if done inappropriately will lead to biased inferences. Till receipts and other sales records are frequently available on food premises, but their applicability has not been fully explored. Using data from an investigation into a Salmonella outbreak affecting 66 individuals exposed in a London takeaway restaurant, this study aimed to evaluate the use of till receipts to assess associations between sales and illness. Cases identified through local case-finding were subjected to a standardised exposure questionnaire. Till receipts over the time period when cases arose were analysed. Estimated food exposures from sales were compared to case reported exposures and till receipts analysis showed strong association between illness and consumption of rotisserie chicken (odds ratio (OR): 2.75; confidence interval (CI): 1.7-4.5). Chicken sales immediately prior to food consumption for cases were compared to two control periods in an ecological case-crossover design. On average there was an estimated increase of 3.7 (CI: 2.2-5.2) extra chickens sold in the hour immediately prior to the consumption in the cases (p<0.0001) and the risk of becoming ill at busy times increased by 5% with each additional chicken quarter sold per hour (OR: 1.05; CI: 1.03-1.08). Microbiological and environmental investigations revealed Salmonella Enteritidis phage type (PT)14b in all available cases' stool samples, two environmental samples and leftover chicken from the takeaway. The feasibility of this novel approach to obtain exposure information in the population at risk has been demonstrated, and its limitations are discussed. Further validation is required, comparing results with those in a concurrent classic case-control study.

Association between type 2 diabetes mellitus and anthropometric measurements - a case control study in South India.

PubMed

Awasthi, A; Rao, C R; Hegde, D S; Rao N, K

2017-03-01

Obesity is a major risk factor for type 2 diabetes mellitus (T2DM). Clinical evidence indicates a stronger association of diabetes with central obesity than general obesity. The present study aimed to compare the association between type 2 diabetes mellitus and different anthropometric measurements and evaluate the usefulness of these measurements in clinical practice. A case-control study was done among 102 individuals; of whom 51 cases included diagnosed T2DM (≥ 20 years age) patients attending the Medicine out-patient consultation of a tertiary care hospital and 51 controls who were screen negative for T2DM and recruited from the local community. Various anthropometric measurements were used according to standard World Health Organization (WHO) protocols. Data was entered and analyzed using Statistical Package for Social Sciences (SPSS) version 15. The proportion of cases with Body Mass Index (BMI) ≥ 25 kg/m 2 was 55% as compared to 22% of controls and this association was statistically significant (p < 0.05). The proportion of cases with high waist circumference cut-offs (WC) was 74.5% as compared to 45.1% healthy individuals and this association was also statistically significant (p < 0.05, OR = 3.56). A Receiver Operating Characteristic (ROC) curve for both gender revealed highest area under the curve for body mass index (area = 0.787). Body mass index had the best discriminatory power. Waist to hip ratio was not a sensitive marker especially for females. A strong association between obesity indices and diabetes was identified. BMI and WC could be used in clinical practice for suggesting life style modifications.

Ultrasound and bronchoscopic controlled percutaneous tracheostomy on trauma ICU.

PubMed

Kollig, E; Heydenreich, U; Roetman, B; Hopf, F; Muhr, G

2000-11-01

Tracheostomy is a common surgical procedure performed in long-term ventilated patients in intensive care. Since the role of percutaneous dilatational tracheostomy (PDT) on Intensive Care Unit (ICU) has become steadily more important in the last few years, a prospective study was started to evaluate the economic efficiency and to show the minimization of the complication rate of this procedure. In 72 patients we performed PDT as a bedside procedure. Initially the thyroid gland and the subcutaneous vessels were studied by ultrasound in every patient. The puncture of the trachea, the dilatational procedure and the insertion of the tracheal cannula were executed under bronchoscopic monitoring. Finally, a bronchoscopic control view followed via the new cannula to detect intratracheal complications. Mechanical ventilation was maintained during the procedure and controlled by continuous pulse oximetry. According to prior ultrasound findings the place to puncture the trachea was changed in 24% of the patients, in one case tracheostomy was performed as an open conventional procedure. The following complications could be observed: one case involving perforation of a cartilaginous ring, one case with venous bleeding of a small subcutaneous vein and two cases with punctures of the bronchoscope. There were no cases of miscannulation, penetration of the posterior tracheal wall or major bleeding requiring intervention or conversion. The followup study revealed that there was no sign of further complications in any patient. In addition, cost analysis demonstrated that there was a significant economical advantage of PDT in comparison with open standard tracheostomy. Standardized ultrasonographically and bronchoscopically controlled PDT turns out to be a safe, simple and cost effective bedside procedure on ICU. Because of ultrasound examination performed before the procedure, and bronchoscopic surveillance during the procedure, safety of this procedure can be enhanced, thus minimizing the rate of complications.

TNF-alpha-308G>A polymorphism and the risk of familial CAD in a Pakistani population.

PubMed

Hussain, Sabir; Iqbal, Tahir; Javed, Qamar

2015-01-01

A case-control and trio-families study was performed to establish a potential association between TNF-alpha gene promoter SNPs at -308 and -238, and occurrence of CAD in a Pakistani population. In the first phase, 150 patients and 150 controls were enrolled in the case-control association study. In the second phase, heritability of susceptible alleles was investigated from 88 trio-families with CAD affected offspring. Biochemical analysis of lipids and hs-CRP was carried out spectrophotometrically, while serum TNF-alpha concentrations were determined by enzyme-linked immunosorbent assay. Genotyping of the TNF-alpha SNPs were determined by PCR-RFLP method. Elevated serum TNF-alpha and hs-CRP were observed from CAD vs. controls (P<0.0001; for both). The evaluation of TNF-alpha-308G>A polymorphism in case-control study revealed that the said SNP was significantly associated with the increased risk of CAD. The findings demonstrated a significant link between the TNF-alpha variant allele A at -308 and CAD (P=0.0035), whereas the -238 SNP was not associated with the disease. Haplotype A-G of the TNF-alpha gene at -308G>A and -238G>A showed higher frequency in the patient group compared with controls (P<0.05). Moreover, data showed preferential transmission of the disease susceptible allele A at TNF-alpha-308 from parent to affected offspring in a trio-family study (P<0.0001). The current research leads to conclusion that the TNF-alpha-308G>A polymorphism is associated with CAD in the study population. Furthermore, for the first time, we showed that the TNF-alpha-308A allele was significantly associated with the familial CAD in our high risk population. Copyright © 2014. Published by Elsevier Inc.

Campylobacter in poultry: filling an ecological niche.

PubMed

Lee, Margie D; Newell, Diane G

2006-03-01

Epidemiological studies indicate that Campylobacter species may be responsible for the majority of cases of sporadic gastroenteritis in humans. These studies also suggest that poultry may be one of the most common sources of the bacteria for humans. Campylobacter and related genera in the family Campylobacteraceae are oral and intestinal commensals of vertebrates and some nonvertebrates, a characteristic that complicates rational approaches to controlling Campylobacter contamination of poultry. This review will discuss the phylogeny, genomics, and physiology of campylobacters with the intention of revealing how these organisms have evolved to fill their intestinal ecological niche in poultry and how their physiology must be understood in order to enact effective control strategies.

Proteomics analysis of human placenta reveals glutathione metabolism dysfunction as the underlying pathogenesis for preeclampsia.

PubMed

Jin, Xiaohan; Xu, Zhongwei; Cao, Jin; Shao, Ping; Zhou, Maobin; Qin, Zhe; Liu, Yan; Yu, Fang; Zhou, Xin; Ji, Wenjie; Cai, Wei; Ma, Yongqiang; Wang, Chengyan; Shan, Nana; Yang, Ning; Chen, Xu; Li, Yuming

2017-09-01

Hypertensive disorder in pregnancy (HDP) refers to a series of diseases that cause the hypertension during pregnancy, including HDP, preeclampsia (PE) and eclampsia. This study screens differentially expressed proteins of placenta tissues in PE cases using 2D LC-MS/MS quantitative proteomics strategy. A total of 2281 proteins are quantified, of these, 145 altering expression proteins are successfully screened between PE and control cases (p<0.05). Bioinformatics analysis suggests that these proteins are mainly involved in many biological processes, such as oxidation reduction, mitochondrion organization, and acute inflammatory response. Especially, the glutamine metabolic process related molecules, GPX1, GPX3, SMS, GGCT, GSTK1, NFκB, GSTT2, SOD1 and GCLM, are involved in the switching process from oxidized glutathione (GSSG) conversion to the reduced glutathione (GSH) by glutathione, mercapturic acid and arginine metabolism process. Results of this study revealed that glutathione metabolism disorder of placenta tissues may contribute to the occurrence of PE disease. Copyright © 2017. Published by Elsevier B.V.

[Giardia duodenalis and chronic malnutrition in children under five from a rural area of Guinea-Bissau].

PubMed

Centeno-Lima, Sónia; Rosado-Marques, Vítor; Ferreira, Filipa; Rodrigues, Ruben; Indeque, Benjamim; Camará, Idrissa; De Sousa, Bruno; Aguiar, Pedro; Nunes, Baltazar; Ferrinho, Paulo

2013-01-01

Malnutrition and infections by intestinal parasites such as Giardia duodenalis coexist in the same geographical regions, reaching the highest prevalence in developing countries. The cycle of malnutrition and infection implies that both conditions can aggravate each other and compromise the growth and development of children with special relevance for under-five. The aim of this study was to investigate the association between chronic malnutrition and infection by G. duodenalis in children under five in a rural community in Guinea-Bissau. A case-control study that included 109 children aged 0 to 59 months of a rural community in Guinea-Bissau was conducted. The anthropometric assessment of children in the study identified 31 cases of chronic malnutrition (z-score height for age < -2) and 78 controls (z-score height for age = -2). Microscopic examination of stools was performed for detection and identification of G. duodenalis and other parasites. The microscopic analysis of stool samples revealed G. duodenalis infection in 29.0% (9/31) of cases and 35.9% (28/78) of controls. No association between the infection with G. duodenalis and chronic malnutrition in children under study could be established. The results reinforce the interest in designing further studies exploring this association in different regions and epidemiological settings, while direct to the importance of the criteria for malnutrition definition which influences the subsequent analysis.

Polymorphisms of three genes (ACE, AGT and CYP11B2) in the renin-angiotensin-aldosterone system are not associated with blood pressure salt sensitivity: A systematic meta-analysis.

PubMed

Sun, Jiahong; Zhao, Min; Miao, Song; Xi, Bo

2016-01-01

Many studies have suggested that polymorphisms of three key genes (ACE, AGT and CYP11B2) in the renin-angiotensin-aldosterone system (RAAS) play important roles in the development of blood pressure (BP) salt sensitivity, but they have revealed inconsistent results. Thus, we performed a meta-analysis to clarify the association. PubMed and Embase databases were searched for eligible published articles. Fixed- or random-effect models were used to pool odds ratios and 95% confidence intervals based on whether there was significant heterogeneity between studies. In total, seven studies [237 salt-sensitive (SS) cases and 251 salt-resistant (SR) controls] for ACE gene I/D polymorphism, three studies (130 SS cases and 221 SR controls) for AGT gene M235T polymorphism and three studies (113 SS cases and 218 SR controls) for CYP11B2 gene C344T polymorphism were included in this meta-analysis. The results showed that there was no significant association between polymorphisms of these three polymorphisms in the RAAS and BP salt sensitivity under three genetic models (all p > 0.05). The meta-analysis suggested that three polymorphisms (ACE gene I/D, AGT gene M235T, CYP11B2 gene C344T) in the RAAS have no significant effect on BP salt sensitivity.

GWAS of Follicular Lymphoma Reveals Allelic Heterogeneity at 6p21.32 and Suggests Shared Genetic Susceptibility with Diffuse Large B-cell Lymphoma

PubMed Central

Skibola, Christine F.; Darabi, Hatef; Conde, Lucia; Hjalgrim, Henrik; Kumar, Vikrant; Chang, Ellen T.; Rothman, Nathaniel; Cerhan, James R.; Brooks-Wilson, Angela R.; Rehnberg, Emil; Irwan, Ishak D.; Ryder, Lars P.; Brown, Peter N.; Bracci, Paige M.; Agana, Luz; Riby, Jacques; Cozen, Wendy; Davis, Scott; Hartge, Patricia; Morton, Lindsay M.; Severson, Richard K.; Wang, Sophia S.; Slager, Susan L.; Fredericksen, Zachary S.; Novak, Anne J.; Kay, Neil E.; Habermann, Thomas M.; Armstrong, Bruce; Kricker, Anne; Milliken, Sam; Purdue, Mark P.; Vajdic, Claire M.; Boyle, Peter; Lan, Qing; Zahm, Shelia H.; Zhang, Yawei; Zheng, Tongzhang; Leach, Stephen; Spinelli, John J.; Smith, Martyn T.; Chanock, Stephen J.; Padyukov, Leonid; Alfredsson, Lars; Klareskog, Lars; Glimelius, Bengt; Melbye, Mads; Liu, Edison T.; Adami, Hans-Olov; Humphreys, Keith; Liu, Jianjun

2011-01-01

Non-Hodgkin lymphoma (NHL) represents a diverse group of hematological malignancies, of which follicular lymphoma (FL) is a prevalent subtype. A previous genome-wide association study has established a marker, rs10484561 in the human leukocyte antigen (HLA) class II region on 6p21.32 associated with increased FL risk. Here, in a three-stage genome-wide association study, starting with a genome-wide scan of 379 FL cases and 791 controls followed by validation in 1,049 cases and 5,790 controls, we identified a second independent FL–associated locus on 6p21.32, rs2647012 (ORcombined = 0.64, Pcombined = 2×10−21) located 962 bp away from rs10484561 (r2<0.1 in controls). After mutual adjustment, the associations at the two SNPs remained genome-wide significant (rs2647012:ORadjusted = 0.70, Padjusted = 4×10−12; rs10484561:ORadjusted = 1.64, Padjusted = 5×10−15). Haplotype and coalescence analyses indicated that rs2647012 arose on an evolutionarily distinct haplotype from that of rs10484561 and tags a novel allele with an opposite (protective) effect on FL risk. Moreover, in a follow-up analysis of the top 6 FL–associated SNPs in 4,449 cases of other NHL subtypes, rs10484561 was associated with risk of diffuse large B-cell lymphoma (ORcombined = 1.36, Pcombined = 1.4×10−7). Our results reveal the presence of allelic heterogeneity within the HLA class II region influencing FL susceptibility and indicate a possible shared genetic etiology with diffuse large B-cell lymphoma. These findings suggest that the HLA class II region plays a complex yet important role in NHL. PMID:21533074

Identification of patients with gout: elaboration of a questionnaire for epidemiological studies.

PubMed

Richette, P; Clerson, P; Bouée, S; Chalès, G; Doherty, M; Flipo, R M; Lambert, C; Lioté, F; Poiraud, T; Schaeverbeke, T; Bardin, T

2015-09-01

In France, the prevalence of gout is currently unknown. We aimed to design a questionnaire to detect gout that would be suitable for use in a telephone survey by non-physicians and assessed its performance. We designed a 62-item questionnaire covering comorbidities, clinical features and treatment of gout. In a case-control study, we enrolled patients with a history of arthritis who had undergone arthrocentesis for synovial fluid analysis and crystal detection. Cases were patients with crystal-proven gout and controls were patients who had arthritis and effusion with no monosodium urate crystals in synovial fluid. The questionnaire was administered by phone to cases and controls by non-physicians who were unaware of the patient diagnosis. Logistic regression analysis and classification and regression trees were used to select items discriminating cases and controls. We interviewed 246 patients (102 cases and 142 controls). Two logistic regression models (sensitivity 88.0% and 87.5%; specificity 93.0% and 89.8%, respectively) and one classification and regression tree model (sensitivity 81.4%, specificity 93.7%) revealed 11 informative items that allowed for classifying 90.0%, 88.8% and 88.5% of patients, respectively. We developed a questionnaire to detect gout containing 11 items that is fast and suitable for use in a telephone survey by non-physicians. The questionnaire demonstrated good properties for discriminating patients with and without gout. It will be administered in a large sample of the general population to estimate the prevalence of gout in France. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.

Social and economic inequalities in fatal opioid and cocaine related overdoses in Luxembourg: a case-control study.

PubMed

Origer, Alain; Le Bihan, Etienne; Baumann, Michèle

2014-09-01

To investigate social and economic inequalities in fatal overdose cases related to opioid and cocaine use, recorded in Luxembourg between 1994 and 2011. Cross-examination of national data from law enforcement and drug use surveillance sources and of forensic evidence in a nested case-control study design. Overdose cases were individually matched with four controls, when available, according to sex, year of birth, drug administration route and duration of drug use. 272 cases vs 1056 controls were analysed. Conditional logistic regression analysis was performed to assess the respective impact of a series of socioeconomic variables. Being professionally active [OR=0.66 (95% CI 0.45-0.99)], reporting salary as main legal income source [OR=0.42 (95% CI 0.26-0.67)] and education attainment higher than primary school [OR=0.50 (95% CI 0.34-0.73)] revealed to be protective factors, whereas the professional status of the father or legal guardian of victims was not significantly associated to fatal overdoses. Socioeconomic inequalities in drug users impact on the occurrence of fatal overdoses. Compared to their peers, users of illicit drugs with lower socioeconomic profiles show increased odds of dying from overdose. However, actual and self-referred socioeconomic characteristics of drug users, such as educational attainment and employment, may have a greater predictive value of overdose mortality than the parental socioeconomic status. Education, vocational training and socio-professional reintegration should be part of drug-related mortality prevention policies. Copyright © 2014 Elsevier B.V. All rights reserved.

Time-Domain Evaluation of Fractional Order Controllers’ Direct Discretization Methods

NASA Astrophysics Data System (ADS)

Ma, Chengbin; Hori, Yoichi

Fractional Order Control (FOC), in which the controlled systems and/or controllers are described by fractional order differential equations, has been applied to various control problems. Though it is not difficult to understand FOC’s theoretical superiority, realization issue keeps being somewhat problematic. Since the fractional order systems have an infinite dimension, proper approximation by finite difference equation is needed to realize the designed fractional order controllers. In this paper, the existing direct discretization methods are evaluated by their convergences and time-domain comparison with the baseline case. Proposed sampling time scaling property is used to calculate the baseline case with full memory length. This novel discretization method is based on the classical trapezoidal rule but with scaled sampling time. Comparative studies show good performance and simple algorithm make the Short Memory Principle method most practically superior. The FOC research is still at its primary stage. But its applications in modeling and robustness against non-linearities reveal the promising aspects. Parallel to the development of FOC theories, applying FOC to various control problems is also crucially important and one of top priority issues.

A case-control study evaluating relative risk factors for decompression sickness: a research report.

PubMed

Suzuki, Naoko; Yagishita, Kazuyosi; Togawa, Seiichiro; Okazaki, Fumihiro; Shibayama, Masaharu; Yamamoto, Kazuo; Mano, Yoshihiro

2014-01-01

Factors contributing to the pathogenesis of decompression sickness (DCS) in divers have been described in many studies. However, relative importance of these factors has not been reported. In this case-control study, we compared the diving profiles of divers experiencing DCS with those of a control group. The DCS group comprised 35 recreational scuba divers who were diagnosed by physicians as having DCS. The control group consisted of 324 apparently healthy recreational divers. All divers conducted their dives from 2009 to 2011. The questionnaire consisted of 33 items about an individual's diving profile, physical condition and activities before, during and just after the dive. To simplify dive parameters, the dive site was limited to Izu Osezaki. Odds ratios and multiple logistic regression were used for the analysis. Odds ratios revealed several items as dive and health factors associated with DCS. The major items were as follows: shortness of breath after heavy exercise during the dive (OR = 12.12), dehydration (OR = 10.63), and maximum dive depth > 30 msw (OR = 7.18). Results of logistic regression were similar to those by odds ratio analysis. We assessed the relative weights of the surveyed dive and health factors associated with DCS. Because results of several factors conflict with previous studies, future studies are needed.

Association of IL-10-1082A/G Polymorphism with Ischemic Stroke: Evidence from a Case-Control Study to an Updated Meta-Analysis.

PubMed

Liu, Xu; Li, Qu; Zhu, Ruixia; He, Zhiyi

2017-06-01

Interleukin-10 (IL-10) plays a vital part in the pathophysiology of vascular inflammation. Several studies have investigated the potential association between the IL-10-1082A/G polymorphism and the risk of ischemic stroke where the inflammatory process is involved, but the conclusions have been inconsistent. Three hundred eighty-six ischemic stroke patients and 386 healthy controls were recruited in the study. Genotyping was conducted by using the polymerase chain reaction-ligation detection reaction method. A meta-analysis was then performed by pooling our data with previous published studies. In our case-control study, a lack of association was revealed between IL-10-1082A/G and ischemic stroke (p > 0.05). When combined with previous studies, however, a significant relationship between IL-10-1082A/G and ischemic stroke risk was found (G vs. A: OR = 0.73, 95% CI = 0.60-0.88, p < 0.01; GG vs. AA: OR = 0.61, 95% CI = 0.49-0.76, p < 0.01; GG+AG vs. AA: OR = 0.70, 95% CI = 0.54-0.91, p < 0.01; GG vs. AG+AA: OR = 0.68, 95% CI = 0.52-0.89, p < 0.01), as well as in subgroup analyses. Sensitivity analysis and publication bias assessment supported the reliability of the results from the meta-analysis. Evidence from a case-control study to an updated meta-analysis suggests that the IL-10-1082A/G polymorphism is associated with ischemic stroke susceptibility.

Vitamin D receptor (VDR) Polymorphisms and Risk of Ovarian Cancer in Caucasian and African American women

PubMed Central

Grant, Delores J.; Hoyo, Cathrine; Akushevich, Lucy; Iversen, Edwin S.; Whitaker, Regina; Marks, Jeffrey; Berchuck, Andrew; Schildkraut, Joellen M.

2014-01-01

Background Polymorphisms in the vitamin D receptor (VDR) gene have been shown in some studies to be associated with the risk of epithelial ovarian cancer (EOC) in Caucasian women. This association among African American women has been understudied. Methods Case-control data from the North Carolina Ovarian Cancer Study were analyzed using logistic regression to determine the association between seven VDR polymorphisms of functional significance and EOC in both Caucasians (513 cases, 532 controls) and African Americans (74 cases, 79 controls). In a follow-up analysis, associations were assessed between six SNPs in proximity of the Apa1 variant and a larger sample of African-Americans (125 cases, 155 controls). Results African American women who carried at least one minor allele of Apa1 (rs7975232) were at higher risk for invasive EOC controlling for age and admixture with an odds ratio (OR) for association under the log-additive model of 2.08 (95% confidence interval (CI) = 1.19, 3.63, p = 0.010). No association was observed between any of the VDR variants and EOC among Caucasians. A follow-up analysis in a larger sample of African American subjects revealed a nearly two-fold increase in risk of invasive EOC in rs7971418, a SNP in proximity to the Apa1 SNP (R2 = 0.369) with a log-additive OR of 1.87 (95% CI = 1.20, 2.93, p = 0.006). Conclusion This is the first report showing VDR variants associated with ovarian cancer risk in African American women. A larger study of African American women is needed to confirm these findings. Impact Our results imply that vitamin D exposure is a possible modifiable risk factor of ovarian cancer among African Americans. PMID:23262379

Vitamin D receptor (VDR) polymorphisms and risk of ovarian cancer in Caucasian and African American women.

PubMed

Grant, Delores J; Hoyo, Cathrine; Akushevich, Lucy; Iversen, Edwin S; Whitaker, Regina; Marks, Jeffrey; Berchuck, Andrew; Schildkraut, Joellen M

2013-04-01

Polymorphisms in the vitamin D receptor (VDR) gene have been shown in some studies to be associated with the risk of epithelial ovarian cancer (EOC) in Caucasian women. There are no published reports among African Americans. Case-control data from the North Carolina Ovarian Cancer Study were analyzed using logistic regression to determine the association between seven VDR polymorphisms and EOC in both Caucasians (513 cases, 532 controls) and African Americans (74 cases, 79 controls). In a larger sample of African-Americans (125 cases, 155 controls), we assessed associations between six SNPs in proximity of rs7975232. African American women who carried at least one minor allele of rs7975232 were at higher risk for invasive EOC controlling for age and admixture with an odds ratio (OR) for association under the log-additive model of 2.08 (95% confidence interval (CI)=1.19, 3.63, p=0.010). No association was observed between any of the VDR variants and EOC among Caucasians. A larger sample of African Americans revealed a nearly two-fold increased risk of invasive EOC associated with rs7305032, a SNP in proximity to rs7975232 (R(2)=0.369) with a log-additive OR of 1.87 (95% CI=1.20, 2.93, p=0.006). This is the first report showing VDR variants associated with ovarian cancer risk in African American women. A larger study of African American women is needed to confirm these findings. These results imply that vitamin D exposure is a possible modifiable risk factor of ovarian cancer among African Americans. Copyright © 2012. Published by Elsevier Inc.

Serum Vitamin D Is Significantly Inversely Associated with Disease Severity in Caucasian Adults with Obstructive Sleep Apnea Syndrome

PubMed Central

Kerley, Conor P.; Hutchinson, Katrina; Bolger, Kenneth; McGowan, Aisling; Faul, John; Cormican, Liam

2016-01-01

Study Objectives: To evaluate vitamin D (25(OH)D) levels in obstructive sleep apnea syndrome (OSAS) and possible relationships to OSAS severity, sleepiness, lung function, nocturnal heart rate (HR), and body composition. We also aimed to compare the 25(OH)D status of a subset of OSAS patients compared to controls matched for important determinants of both OSAS and vitamin D deficiency (VDD). Methods: This was a cross-sectional study conducted at an urban, clinical sleep medicine outpatient center. We recruited newly diagnosed, Caucasian adults who had recently undergone nocturnal polysomnography. We compared body mass index (BMI), body composition (bioelectrical impedance analysis), neck circumference, sleepiness (Epworth Sleepiness Scale), lung function, and vitamin D status (serum 25-hydrpoxyvitamin D (25(OH)D) across OSAS severity categories and non-OSAS subjects. Next, using a case-control design, we compared measures of serum 25(OH)D from OSAS cases to non-OSAS controls who were matched for age, gender, skin pigmentation, sleepiness, season, and BMI. Results: 106 adults (77 male; median age = 54.5; median BMI = 34.3 kg/m2) resident in Dublin, Ireland (latitude 53°N) were recruited and categorized as non-OSAS or mild/moderate/severe OSAS. 98% of OSAS cases had insufficient 25(OH)D (< 75 nmol/L), including 72% with VDD (< 50 nmol/L). 25(OH)D levels decreased with OSAS severity (P = 0.003). 25(OH)D was inversely correlated with BMI, percent body fat, AHI, and nocturnal HR. Subsequent multivariate regression analysis revealed that 25(OH)D was independently associated with both AHI (P = 0.016) and nocturnal HR (P = 0.0419). Our separate case-control study revealed that 25(OH)D was significantly lower in OSAS cases than matched, non-OSAS subjects (P = 0.001). Conclusions: We observed widespread vitamin D deficiency and insufficiency in a Caucasian, OSAS population. There were significant, independent, inverse relationships between 25(OH)D and AHI as well as nocturnal HR, a known cardiovascular risk factor. Further, 25(OH)D was significantly lower in OSAS cases compared to matched, non-OSAS subjects. We provide evidence that 25(OH)D and OSAS are related, but the role, if any, of replenishment has not been investigated. Citation: Kerley CP, Hutchinson K, Bolger K, McGowan A, Faul J, Comican L. Serum vitamin D is significantly inversely associated with disease severity in Caucasian adults with obstructive sleep apnea syndrome. SLEEP 2016;39(2):293–300. PMID:26414899

GWAS of clinically defined gout and subtypes identifies multiple susceptibility loci that include urate transporter genes

PubMed Central

Nakayama, Akiyoshi; Nakaoka, Hirofumi; Yamamoto, Ken; Sakiyama, Masayuki; Shaukat, Amara; Toyoda, Yu; Okada, Yukinori; Kamatani, Yoichiro; Nakamura, Takahiro; Takada, Tappei; Inoue, Katsuhisa; Yasujima, Tomoya; Yuasa, Hiroaki; Shirahama, Yuko; Nakashima, Hiroshi; Shimizu, Seiko; Higashino, Toshihide; Kawamura, Yusuke; Ogata, Hiraku; Kawaguchi, Makoto; Ohkawa, Yasuyuki; Danjoh, Inaho; Tokumasu, Atsumi; Ooyama, Keiko; Ito, Toshimitsu; Kondo, Takaaki; Wakai, Kenji; Stiburkova, Blanka; Pavelka, Karel; Stamp, Lisa K; Dalbeth, Nicola; Sakurai, Yutaka; Suzuki, Hiroshi; Hosoyamada, Makoto; Fujimori, Shin; Yokoo, Takashi; Hosoya, Tatsuo; Inoue, Ituro; Takahashi, Atsushi; Kubo, Michiaki; Ooyama, Hiroshi; Shimizu, Toru; Ichida, Kimiyoshi; Shinomiya, Nariyoshi; Merriman, Tony R; Matsuo, Hirotaka

2017-01-01

Objective A genome-wide association study (GWAS) of gout and its subtypes was performed to identify novel gout loci, including those that are subtype-specific. Methods Putative causal association signals from a GWAS of 945 clinically defined gout cases and 1213 controls from Japanese males were replicated with 1396 cases and 1268 controls using a custom chip of 1961 single nucleotide polymorphisms (SNPs). We also first conducted GWASs of gout subtypes. Replication with Caucasian and New Zealand Polynesian samples was done to further validate the loci identified in this study. Results In addition to the five loci we reported previously, further susceptibility loci were identified at a genome-wide significance level (p<5.0×10−8): urate transporter genes (SLC22A12 and SLC17A1) and HIST1H2BF-HIST1H4E for all gout cases, and NIPAL1 and FAM35A for the renal underexcretion gout subtype. While NIPAL1 encodes a magnesium transporter, functional analysis did not detect urate transport via NIPAL1, suggesting an indirect association with urate handling. Localisation analysis in the human kidney revealed expression of NIPAL1 and FAM35A mainly in the distal tubules, which suggests the involvement of the distal nephron in urate handling in humans. Clinically ascertained male patients with gout and controls of Caucasian and Polynesian ancestries were also genotyped, and FAM35A was associated with gout in all cases. A meta-analysis of the three populations revealed FAM35A to be associated with gout at a genome-wide level of significance (pmeta=3.58×10−8). Conclusions Our findings including novel gout risk loci provide further understanding of the molecular pathogenesis of gout and lead to a novel concept for the therapeutic target of gout/hyperuricaemia. PMID:27899376

Comparisons of serum miRNA expression profiles in patients with diabetic retinopathy and type 2 diabetes mellitus.

PubMed

Ma, Jianping; Wang, Jufang; Liu, Yanfen; Wang, Changyi; Duan, Donghui; Lu, Nanjia; Wang, Kaiyue; Zhang, Lu; Gu, Kaibo; Chen, Sihan; Zhang, Tao; You, Dingyun; Han, Liyuan

2017-02-01

The aim of this study was to compare the expression levels of serum miRNAs in diabetic retinopathy and type 2 diabetes mellitus. Serum miRNA expression profiles from diabetic retinopathy cases (type 2 diabetes mellitus patients with diabetic retinopathy) and type 2 diabetes mellitus controls (type 2 diabetes mellitus patients without diabetic retinopathy) were examined by miRNA-specific microarray analysis. Quantitative real-time polymerase chain reaction was used to validate the significantly differentially expressed serum miRNAs from the microarray analysis of 45 diabetic retinopathy cases and 45 age-, sex-, body mass index- and duration-of-diabetes-matched type 2 diabetes mellitus controls. The relative changes in serum miRNA expression levels were analyzed using the 2-ΔΔCt method. A total of 5 diabetic retinopathy cases and 5 type 2 diabetes mellitus controls were included in the miRNA-specific microarray analysis. The serum levels of miR-3939 and miR-1910-3p differed significantly between the two groups in the screening stage; however, quantitative real-time polymerase chain reaction did not reveal significant differences in miRNA expression for 45 diabetic retinopathy cases and their matched type 2 diabetes mellitus controls. Our findings indicate that miR-3939 and miR-1910-3p may not play important roles in the development of diabetic retinopathy; however, studies with a larger sample size are needed to confirm our findings.

[Diphenhydramine addiction and detoxification. A systematic review and case report].

PubMed

Erbe, Sebastian; Bschor, Tom

2013-07-01

In many countries diphenhydramine (DPH) is commonly available over the counter, frequently used, and generally regarded as a harmless drug. It is used as a sedative, antiallergic or antiemetic substance. We present a systematic review of literature search in Pubmed from 1972 to 2012 describing DPH addiction. The literature search in reveals that the addictive potential of DPH can be regarded as proved, based on cases series, eight case reports, a pharmacological overview, one uncontrolled, and one randomized, placebo controlled study. In addition we report a case of an abstinent alcoholic patient treated in our department for DPH-dependency. Especially when treating patients with a history of addiction, physicians should consider and check the possibility of a DPH dependency. © Georg Thieme Verlag KG Stuttgart · New York.

Value of Microperimetry in Detecting Early Retinal Toxicity of Hydroxychloroquine in Children with Juvenile Systemic Lupus Erythematosus.

PubMed

Youssef, Maha M; El-Fayoumi, Dina; Sidky, Mohamed Karim; Hegazy, Ahmed I; Marzouk, Huda; Eltanamly, Rasha M

2017-01-01

To evaluate retinal sensitivity in children who are on hydroxychloroquine (HCQ) for systemic lupus erythematosus using microperimetry and compare the results with those of the Humphrey visual field (HVF) 10-2 and spectral-domain optical coherence tomography (SD-OCT). A case-control cross-sectional study including 19 patients (less than 18 years old) on HCQ for at least 5 years. Controls were 21 normal children. Participants underwent a complete ophthalmic examination, then were investigated using HVF 10-2, SD-OCT, and microperimetry. Ocular examination revealed no abnormalities. The overall mean microperimetry sensitivity of the patients (15.75 dB) was not significantly different from that of the controls (16.35 dB). The HVF 10-2 showed a significant difference in the mean deviation of the patients. Conclusions and Message: Microperimetry was not more revealing than HVF 10-2 and SD-OCT. Larger studies are required to compare the diagnostic accuracy of screening modalities of retinal toxicity in children on HCQ. © 2017 S. Karger AG, Basel.

Plasma proteomic analysis reveals altered protein abundances in cardiovascular disease.

PubMed

Lygirou, Vasiliki; Latosinska, Agnieszka; Makridakis, Manousos; Mullen, William; Delles, Christian; Schanstra, Joost P; Zoidakis, Jerome; Pieske, Burkert; Mischak, Harald; Vlahou, Antonia

2018-04-17

Cardiovascular disease (CVD) describes the pathological conditions of the heart and blood vessels. Despite the large number of studies on CVD and its etiology, its key modulators remain largely unknown. To this end, we performed a comprehensive proteomic analysis of blood plasma, with the scope to identify disease-associated changes after placing them in the context of existing knowledge, and generate a well characterized dataset for further use in CVD multi-omics integrative analysis. LC-MS/MS was employed to analyze plasma from 32 subjects (19 cases of various CVD phenotypes and 13 controls) in two steps: discovery (13 cases and 8 controls) and test (6 cases and 5 controls) set analysis. Following label-free quantification, the detected proteins were correlated to existing plasma proteomics datasets (plasma proteome database; PPD) and functionally annotated (Cytoscape, Ingenuity Pathway Analysis). Differential expression was defined based on identification confidence (≥ 2 peptides per protein), statistical significance (Mann-Whitney p value ≤ 0.05) and a minimum of twofold change. Peptides detected in at least 50% of samples per group were considered, resulting in a total of 3796 identified proteins (838 proteins based on ≥ 2 peptides). Pathway annotation confirmed the functional relevance of the findings (representation of complement cascade, fibrin clot formation, platelet degranulation, etc.). Correlation of the relative abundance of the proteins identified in the discovery set with their reported concentrations in the PPD was significant, confirming the validity of the quantification method. The discovery set analysis revealed 100 differentially expressed proteins between cases and controls, 39 of which were verified (≥ twofold change) in the test set. These included proteins already studied in the context of CVD (such as apolipoprotein B, alpha-2-macroglobulin), as well as novel findings (such as low density lipoprotein receptor related protein 2 [LRP2], protein SZT2) for which a mechanism of action is suggested. This proteomic study provides a comprehensive dataset to be used for integrative and functional studies in the field. The observed protein changes reflect known CVD-related processes (e.g. lipid uptake, inflammation) but also novel hypotheses for further investigation including a potential pleiotropic role of LPR2 but also links of SZT2 to CVD.

Eczema in early childhood, sociodemographic factors and lifestyle habits are associated with food allergy: a nested case-control study.

PubMed

Ben-Shoshan, Moshe; Soller, Lianne; Harrington, Daniel W; Knoll, Megan; La Vieille, Sebastian; Fragapane, Joseph; Joseph, Lawrence; St Pierre, Yvan; Wilson, Kathie; Elliott, Susan J; Clarke, Ann E

2015-01-01

Studies suggest an increase in food allergy prevalence over the last decade, but the contributing factors remain unknown. The aim of this study was to evaluate the association between the most common food allergies and atopic history, sociodemographic characteristics and lifestyle habits. We conducted a case-control study nested within the SPAACE study (Surveying Prevalence of Food Allergy in All Canadian Environments) – a cross-Canada, random telephone survey. Cases consisted of individuals with probable food allergy (self-report of convincing symptoms and/or physician diagnosis) to milk, egg, peanut, tree nut, shellfish, fish, wheat, soy, or sesame. Controls consisted of nonallergic individuals, matched for age. Cases and controls were queried on personal and family history of atopy, sociodemographic characteristics and lifestyle habits. Multivariate logistic regression was used to evaluate the association between atopy, sociodemographic characteristics and lifestyle habits with probable food allergy. Between September 2010 and September 2011, 480 cases and 4,950 controls completed the questionnaire. For all 9 allergens, factors associated with a higher risk of probable allergy were as follows: (1) personal history of eczema (in the first 2 years of life), asthma or hay fever (odds ratio, OR 2.3, 95% CI 1.6-3.5; OR 2.8, 95% CI 2.2-3.6, and OR 2.3, 95% CI 1.8-3.0, respectively), (2) maternal, paternal or sibling's food allergy (OR 3.7, 95% CI 2.5-5.6; OR 3.0, 95% CI 1.8-5.1, and OR 3.1, 95% CI 2.2-4.2), (3) high household income (top 20%; OR 1.5, 95% CI 1.2-2.0). Males and older individuals were less likely to have food allergy (OR 0.7, 95% CI 0.6-0.9, and OR 0.99, 95% CI 0.99-1.00). Eczema in the first 2 years of life was the strongest risk factor for egg, peanut, tree nut and fish allergy. This is the largest population-based nested case-control study exploring factors associated with food allergies. Our results reveal that, in addition to previously reported factors, eczema in the first 2 years of life is consistently associated with food allergies. © 2015 S. Karger AG, Basel.

Combined 677CC/1298AC genotypes of methylenetetrahydrofolate reductase (MTHFR ) reduce susceptibility to precursor B lymphoblastic leukemia in a Chinese population.

PubMed

Lv, Ling; Wu, Cuie; Sun, Henjuan; Zhu, Saijuan; Yang, Yongchen; Chen, Xi; Fu, Hua; Bao, Liming

2010-06-01

The methylenetetrahydrofolate reductase (MTHFR) encodes a major enzyme in folate metabolism. It has been suggested that two MTHFR polymorphisms, 677C>T and 1298A>C, influence risk of acute lymphoblastic leukemia (ALL). Most studies on relation of MTHFR polymorphisms to ALL susceptibility have been in pediatric populations because ALL is relatively rare in adults. Here, we report a case-control study of 127 Chinese patients with adult precursor B lymphoblastic leukemia (B-ALL) to examine correlation between the MTHFR polymorphisms and B-ALL susceptibility in adults. Our data show that although the prevalence of genotype 1298CC was significantly higher in the female patients than in the controls (P = 0.04), the differences in distributions of combined genotypes of 1298CC with either 677CC or 677CT between the cases and the controls were statistically insignificant. Haplotype analysis revealed no significant difference between the cases and the controls. The prevalence for joint MTHFR genotypes 677CC/1298AC was significantly lower in the female B-ALL cases than in the controls [odds ratio (OR) = 0.06, 95% CI = 0.00-0.53, P = 0.0033] and no differences among the men [OR = 0.71, 95% CI = 0.20-2.53, P = 0.55], suggesting that protective effects of combined MTHFR 677CC/1298AC genotypes on susceptibility of adult B-ALL are gender bias toward women with 677CC/1298AC women being at a 17-fold reduced odds to develop B-ALL.

Low incidence of ADAMTS13 missense mutation R1060W in adult Egyptian patients with thrombotic thrombocytopenic purpura.

PubMed

El Sissy, Maha H; El Hafez, A Abd; El Sissy, A H

2014-01-01

Thrombotic thrombocytopenic purpura (TTP) is an acute life-threatening disorder, characterized by thrombocytopenia, microangiopathic hemolytic anemia, widespread microvascular thrombi and consequent clinical sequelae due to ischemic organ damage. TTP is most commonly associated with deficiency or inhibition of von Willebrand factor-cleaving protease (ADAMTS13) activity. ADAMTS13 mutations and polymorphisms have been reported in childhood congenital TTP, but their significance in adult-onset TTP is still under investigation. Two mutations stand out: the single base insertion 4143insA in exon 29 and the missense mutation R1060W in exon 24 have both been observed in several unrelated families, mainly in adult-onset TTP, and over a wide geographic area. Our objective in this study is to identify the prevalence of R1060W missense mutation in exon 24 ADAMTS13 in a sample of adult Egyptian TTP patients. Thirty-one adult-onset TTP patients were included in this study, with a male/female ratio of 1:4. Twenty-six cases (84%) presented with acute idiopathic TTP, 2 cases were drug abusers and 3 cases were pregnant. None of the study cases provided a history of suspicious TTP symptoms during childhood (2 cases gave a history of episodes of thrombocytopenia during childhood). All cases showed statistically significant decreased ADAMTS13 activity compared to normal controls (p < 0.001). The study revealed a high statistical difference regarding the ADAMTS13 inhibitor level in primary versus secondary cases (p = 0.003). None of our Egyptian cases or of the healthy normal controls are positive for exon 24 missense mutation. Larger studies and regional and national TTP registries are recommended. © 2013 S. Karger AG, Basel.

The ‘Pokemon’ (ZBTB7) Gene: No Evidence of Association with Sporadic Breast Cancer

PubMed Central

Salas, Antonio; Vega, Ana; Milne, Roger L.; García-Magariños, Manuel; Ruibal, Álvaro; Benítez, Javier; Carracedo, Ángel

2008-01-01

It has been proposed that the excess of familiar risk associated with breast cancer could be explained by the cumulative effect of multiple weakly predisposing alleles. The transcriptional repressor FBI1, also known as Pokemon, has recently been identified as a critical factor in oncogenesis. This protein is encoded by the ZBTB7 gene. Here we aimed to determine whether polymorphisms in ZBTB7 are associated with breast cancer risk in a sample of cases and controls collected in hospitals from North and Central Spanish patients. We genotyped 15 SNPs in ZBTB7, including the flanking regions, with an average coverage of 1 SNP/2.4 Kb, in 360 sporadic breast cancer cases and 402 controls. Comparison of allele, genotype and haplotype frequencies between cases and controls did not reveal associations using Pearson’s chi-square test and a permutation procedure to correct for multiple test. In this, the first study of the ZBTB7 gene in relation to, sporadic breast cancer, we found no evidence of an association. PMID:21892298

Common variants near ABCA1, AFAP1 and GMDS confer risk of primary open-angle glaucoma

PubMed Central

Fogarty, Rhys; Sharma, Shiwani; Hewitt, Alex W.; Martin, Sarah; Law, Matthew H.; Cremin, Katie; Bailey, Jessica N. Cooke; Loomis, Stephanie J.; Pasquale, Louis R.; Haines, Jonathan L.; Hauser, Michael A.; Viswanathan, Ananth C.; McGuffin, Peter; Topouzis, Fotis; Foster, Paul J.; Graham, Stuart L; Casson, Robert J; Chehade, Mark; White, Andrew J; Zhou, Tiger; Souzeau, Emmanuelle; Landers, John; Fitzgerald, Jude T; Klebe, Sonja; Ruddle, Jonathan B; Goldberg, Ivan; Healey, Paul R; Mills, Richard A.; Wang, Jie Jin; Montgomery, Grant W.; Martin, Nicholas G.; Radford-Smith, Graham; Whiteman, David C.; Brown, Matthew A.; Wiggs, Janey L.; Mackey, David A; Mitchell, Paul; MacGregor, Stuart; Craig, Jamie E.

2014-01-01

Primary open-angle glaucoma (POAG) is a major cause of irreversible blindness worldwide. We performed a genome-wide association study in an Australian discovery cohort comprising 1,155 advanced POAG cases and 1,992 controls. Association of the top SNPs from the discovery stage was investigated in two Australian replication cohorts (total 932 cases, 6,862 controls) and two US replication cohorts (total 2,616 cases, 2,634 controls). Meta-analysis of all cohorts revealed three novel loci associated with development of POAG. These loci are located upstream of ABCA1 (rs2472493 [G] OR=1.31, P= 2.1 × 10−19), within AFAP1 (rs4619890 [G] OR=1.20, P= 7.0 × 10−10) and within GMDS (rs11969985 [G] OR=1.31, and P= 7.7 × 10−10). Using RT-PCR and immunolabelling, we also showed that these genes are expressed within human retina, optic nerve and trabecular meshwork and that ABCA1 and AFAP1 are also expressed in retinal ganglion cells. PMID:25173105

Association between the rs1143634 polymorphism in interleukin-1B and chronic periodontitis: Results from a meta-analysis composed by 54 case/control studies.

PubMed

da Silva, Felipe Rodolfo Pereira; Vasconcelos, Any Carolina Cardoso Guimarães; de Carvalho França, Luiz Felipe; Di Lenardo, David; Nascimento, Hélio Mateus Silva; Vasconcelos, Daniel Fernando Pereira

2018-08-20

Several factors are involved in the periodontitis with host response through cytokines and as well as with influence of polymorphisms in cytokine genes, however the results remained contradictory. This study aimed at evaluating the rs1143634 polymorphism in interleukin-1B gene, a cytokine gene, and the risk of chronic periodontitis with conducting a meta-analysis focusing in ethnicity. A review in literature was performed in several databases to studies published before June 2017. Data extraction was performed by two calibrated investigators and the calculations of the meta-analysis were obtained through Review Manager version 5.2 statistical software with Odds Ratio (OR) calculation and Funnel plot (P < 0.05) to heterogeneity and the Comprehensive Meta-analysis version 3.3.070 to assessment publication bias by Egger's and Begg's tests. In overall, 54 case/control studies composed the meta-analysis. T allele was significantly associated with patients case (OR = 1.35, 95% CI: 1.24, 1.48, P < 0.00001) in the overall analysis. The stratified evaluation showed the rs1143634 polymorphism had significant association with disease in Caucasian, Asian and mixed population was excepted in African ethnicity (P > 0.05). No publication bias was found in allelic evaluation. This meta-analysis in 9376 participants with 54 case/control studies revealed the rs1143634 polymorphism was associated with elevated risk of chronic periodontitis in overall analysis as well as Caucasian and Asian ethnicities and Mixed population. Copyright © 2018 Elsevier B.V. All rights reserved.

MTHFR Gene Polymorphism-Mutations and Air Pollution as Risk Factors for Breast Cancer: A Metaprediction Study.

PubMed

Gonzales, Mildred C; Yu, Pojui; Shiao, S Pamela K

The methylenetetrahydrofolate reductase gene (MTHFR) is one of the most investigated genes associated with breast cancer for its role in epigenetic pathways. The objectives of this metaprediction study were to examine the polymorphism-mutation risk subtypes of MTHFR and air pollution as contributing factors for breast cancer. For triangulation purposes in metapredictive analyses, we used a recursive partition tree, nonlinear association curve fit, and heat maps for data visualization, in addition to the conventional comparison procedure and pooled analyses. We included 36,683 breast cancer cases and 40,689 controls across 82 studies for MTHFR 677 and 23,252 cases and 27,094 controls across 50 studies for MTHFR 1298. MTHFR 677 TT was a risk genotype for breast cancer (p = .0004) and in the East Asian subgroup (p = .005). On global maps, the most polymorphism-mutations on MTHFR 677 TT were found in the Middle East, Europe, Asia, and the Americas, whereas the most mutations on MTHFR 1298 CC were located in Europe and the Middle East for the control group. The geographic information system maps further revealed that MTHFR 677 TT mutations yielded a higher risk of breast cancer for Australia, East Asia, the Middle East, South Europe, Morocco, and the Americas and that MTHFR 1298 CC mutations yielded a higher risk in Asia, the Middle East, South Europe, and South America. Metapredictive analysis revealed that air pollution level was significantly associated with MTHFR 677 TT polymorphism-mutation genotype. We present the most comprehensive analyses to date of MTHFR polymorphism-mutations and breast cancer risk. Future nursing studies are needed to investigate the health impact on breast cancer of epigenetics and air pollution across populations.

Safe use of cellular telephones in hospitals: fundamental principles and case studies.

PubMed

Cohen, Ted; Ellis, Willard S; Morrissey, Joseph J; Bakuzonis, Craig; David, Yadin; Paperman, W David

2005-01-01

Many industries and individuals have embraced cellular telephones. They provide mobile, synchronous communication, which could hypothetically increase the efficiency and safety of inpatient healthcare. However, reports of early analog cellular telephones interfering with critical life-support machines had led many hospitals to strictly prohibit cellular telephones. A literature search revealed that individual hospitals now are allowing cellular telephone use with various policies to prevent electromagnetic interference with medical devices. The fundamental principles underlying electromagnetic interference are immunity, frequency, modulation technology, distance, and power Electromagnetic interference risk mitigation methods based on these principles have been successfully implemented. In one case study, a minimum distance between cellular telephones and medical devices is maintained, with restrictions in critical areas. In another case study, cellular telephone coverage is augmented to automatically control the power of the cellular telephone. While no uniform safety standard yet exists, cellular telephones can be safely used in hospitals when their use is managed carefully.

Outdoor air pollution and cardiovascular diseases in Lebanon: a case-control study.

PubMed

Nasser, Zeina; Salameh, Pascale; Dakik, Habib; Elias, Elias; Abou Abbas, Linda; Levêque, Alain

2015-01-01

Outdoor air pollution is increasingly considered as a serious threat for cardiovascular diseases (CVD). The aim of this study is to investigate the association between outdoor pollutants and cardiovascular diseases among adults in Lebanon and to examine the possible moderator effect of cigarette smoking status on this association. A multicenter case-control study was conducted between October 2011 and October 2012. Cases were hospitalized patients diagnosed with CVD by a cardiologist while the control group subjects were free of any cardiac diseases. Information on sociodemographic characteristics, tobacco consumption, self-rated global health, pollution exposure, and other risk factors was collected using a questionnaire. The results of the logistic regression revealed that living near busy highway (OR 5.04, 95% CI (4.44-12.85), P < 0.001) and close to local diesel generator (OR 4.76, 95% CI (2.07-10.91), P < 0.001) was significantly associated with CVD. The association between the CVD and exposure to outside pollutants differed by cigarette smoking status. A clear difference was noted between nonsmokers and current smokers OR 4.6, 95% CI (1.10-19.25) and OR 10.11, 95% CI (7.33-20.23), respectively. Forthcoming studies are needed to clarify the potential link between outdoor air pollution and cardiovascular diseases in Lebanon. Public health interventions must be implemented to reduce air pollution and to improve air quality.

Three SNPs in the GSTO1, GSTO2 and PRSS11 genes on chromosome 10 are not associated with age-at-onset of Alzheimer's disease.

PubMed

Ozturk, Ayla; Desai, Purnima P; Minster, Ryan L; Dekosky, Steven T; Kamboh, M Ilyas

2005-01-01

Linkage studies suggest the presence of putative risk and/or age-at-onset genes for Alzheimer's disease on Chromosome 10. Recently, a genomic converging approach using a combination of linkage, expression and association studies has reported significant associations of the glutathione S-transferase omega 1 and 2 (GSTO1 and GSTO2) genes and possibly the protease serine 11 (PRSS11) gene on chromosome 10 with age-at-onset, but not risk, for Alzheimer's disease (AD) and Parkinson disease. We investigated the association of the reported three polymorphisms in 990 sporadic late-onset AD cases (26% autopsy confirmed) and 735 controls. In our sample, we found no association either with age-at-onset in AD cases or with disease risk in the case-control cohort. However, haplotype analysis revealed a modest association of one haplotype with AD risk (p = 0.04). Additional markers in these genes need to be screened to explore their role in the etiology of AD.

On the origin of worries about modern health hazards: Experimental evidence for a conjoint influence of media reports and personality traits.

PubMed

Witthöft, Michael; Freitag, Ina; Nußbaum, Christiane; Bräscher, Anne-Kathrin; Jasper, Fabian; Bailer, Josef; Rubin, G James

2018-03-01

Worries about health threatening effects of potential health hazards of modern life (e.g. electric devices and pollution) represent a growing phenomenon in Western countries. Yet, little is known about the causes of this growing special case of affective risk perceptions termed Modern Health Worries (MHW). The purpose of this study is to examine a possible role of biased media reports in the formation of MHW. In two experiments, we investigated whether typical television reports affect MHW. In Study 1, 130 participants were randomly assigned to a film on idiopathic environmental intolerance (IEI) or a control film about cystic fibrosis. In Study 2, 82 participants were randomly assigned to either a film on the dangers of electromagnetic fields or a control condition. Increases in MHW after sensational media reports. In Study 1, only participants high on the personality trait of absorption revealed increased MHW after watching the IEI film. In Study 2, specifically worries about radiation were found to be elevated after watching the film on the dangers of electromagnetic fields compared to the control film. The results of both studies reveal a significant and specific influence of sensational short mass media reports on MHW. The influence of potential moderators such as absorption remains to be clarified.

Association of OPRD1 polymorphisms with heroin dependence in a large case-control series.

PubMed

Nelson, Elliot C; Lynskey, Michael T; Heath, Andrew C; Wray, Naomi; Agrawal, Arpana; Shand, Fiona L; Henders, Anjali K; Wallace, Leanne; Todorov, Alexandre A; Schrage, Andrew J; Madden, Pamela A F; Degenhardt, Louisa; Martin, Nicholas G; Montgomery, Grant W

2014-01-01

Genes encoding the opioid receptors (OPRM1, OPRD1 and OPRK1) are obvious candidates for involvement in risk for heroin dependence. Prior association studies commonly had samples of modest size, included limited single nucleotide polymorphism (SNP) coverage of these genes and yielded inconsistent results. Participants for the current investigation included 1459 heroin-dependent cases ascertained from maintenance clinics in New South Wales, Australia, 1495 unrelated individuals selected from an Australian sample of twins and siblings as not meeting DSM-IV criteria for lifetime alcohol or illicit drug dependence (non-dependent controls) and 531 controls ascertained from economically disadvantaged neighborhoods in proximity to the maintenance clinics. A total of 136 OPRM1, OPRD1 and OPRK1 SNPs were genotyped in this sample. After controlling for admixture with principal components analysis, our comparison of cases to non-dependent controls found four OPRD1 SNPs in fairly high linkage disequilibrium for which adjusted P values remained significant (e.g. rs2236857; OR 1.25; P=2.95×10(-4) ) replicating a previously reported association. A post hoc analysis revealed that the two SNP (rs2236857 and rs581111) GA haplotype in OPRD1 is associated with greater risk (OR 1.68; P=1.41×10(-5) ). No OPRM1 or OPRK1 SNPs reached more than nominal significance. Comparisons of cases to neighborhood controls reached only nominal significance. Our results replicate a prior report providing strong evidence implicating OPRD1 SNPs and, in particular, the two SNP (rs2236857 and rs581111) GA haplotype in liability for heroin dependence. Support was not found for similar association involving either OPRM1 or OPRK1 SNPs. © 2012 The Authors, Addiction Biology © 2012 Society for the Study of Addiction.

Outbreak of imipenem-resistant Acinetobacter baumannii in different wards at a regional hospital related to untrained bedside caregivers.

PubMed

Wang, Ching-Hsun; Li, Jin-Feng; Huang, Li-Yueh; Lin, Fu-Mei; Yang, Ya-Sung; Siu, L Kristopher; Chang, Feng-Yee; Lin, Jung-Chung

2017-10-01

This study describes an outbreak caused by imipenem-resistant Acinetobacter baumannii (IRAB) involving 2 general wards at the Penghu branch of Tri-Service General Hospital. Clinical data obtained from the patients with IRAB during an outbreak from May 2014-October 2014 were reviewed. Microbiologic sampling from the environment and the hands of health care workers (HCWs) was performed. Clinical isolates from case patients were genotyped using pulsed-field gel electrophoresis (PFGE). During the outbreak period, 12 patients were colonized or infected with IRAB. The hospital room environments of the case patients were contaminated with IRAB. Hands of nurses and physicians were not colonized with IRAB, but the hands of 2 bedside caregivers of case patients were colonized with IRAB. The PFGE analysis revealed that at least 2 major genetically distinct strains disseminated between 2 different wards. After implementation of infection control measures with a cohort of nursing patients, hand hygiene education for caregivers who had not received instructions before the outbreak, and a critical value alert system to notify case patients, the outbreak was controlled successfully. This outbreak study highlights the importance of adherence to hand hygiene by all HCWs to prevent the dissemination of multidrug-resistant organisms. Copyright © 2017 Association for Professionals in Infection Control and Epidemiology, Inc. Published by Elsevier Inc. All rights reserved.

DNA Repair Gene (XRCC1) Polymorphism (Arg399Gln) Associated with Schizophrenia in South Indian Population: A Genotypic and Molecular Dynamics Study

PubMed Central

Sujitha, S. P.; Kumar, D. Thirumal; Doss, C. George Priya; Aavula, K.; Ramesh, R.; Lakshmanan, S.; Gunasekaran, S.; Anilkumar, G.

2016-01-01

This paper depicts the first report from an Indian population on the association between the variant Arg399Gln of XRCC1 locus in the DNA repair system and schizophrenia, the debilitating disease that affects 1% of the world population. Genotypic analysis of a total of 523 subjects (260 patients and 263 controls) revealed an overwhelming presence of Gln399Gln in the case subjects against the controls (P < 0.0068), indicating significant level of association of this nsSNP with schizophrenia; the Gln399 allele frequency was also perceptibly more in cases than in controls (p < 0.003; OR = 1.448). The results of the genotypic studies were further validated using pathogenicity and stability prediction analysis employing computational tools [I-Mutant Suite, iStable, PolyPhen2, SNAP, and PROVEAN], with a view toassess the magnitude of deleteriousness of the mutation. The pathogenicity analysis reveals that the nsSNP could be deleterious inasmuch as it could affect the functionality of the gene, and interfere with protein function. Molecular dynamics simulation of 60ns was performed using GROMACS to analyse structural change due to a mutation (Arg399Gln) that was never examined before. RMSD, RMSF, hydrogen bonds, radius of gyration and SASA analysis showedthe existence of asignificant difference between the native and the mutant protein. The present study gives astrong indication that the XRCC1 locus deserves serious attention, as it could be a potential candidatecontributing to the etio-pathogenesis of the disease. PMID:26824244

DNA Repair Gene (XRCC1) Polymorphism (Arg399Gln) Associated with Schizophrenia in South Indian Population: A Genotypic and Molecular Dynamics Study.

PubMed

Sujitha, S P; Kumar, D Thirumal; Doss, C George Priya; Aavula, K; Ramesh, R; Lakshmanan, S; Gunasekaran, S; Anilkumar, G

2016-01-01

This paper depicts the first report from an Indian population on the association between the variant Arg399Gln of XRCC1 locus in the DNA repair system and schizophrenia, the debilitating disease that affects 1% of the world population. Genotypic analysis of a total of 523 subjects (260 patients and 263 controls) revealed an overwhelming presence of Gln399Gln in the case subjects against the controls (P < 0.0068), indicating significant level of association of this nsSNP with schizophrenia; the Gln399 allele frequency was also perceptibly more in cases than in controls (p < 0.003; OR = 1.448). The results of the genotypic studies were further validated using pathogenicity and stability prediction analysis employing computational tools [I-Mutant Suite, iStable, PolyPhen2, SNAP, and PROVEAN], with a view toassess the magnitude of deleteriousness of the mutation. The pathogenicity analysis reveals that the nsSNP could be deleterious inasmuch as it could affect the functionality of the gene, and interfere with protein function. Molecular dynamics simulation of 60ns was performed using GROMACS to analyse structural change due to a mutation (Arg399Gln) that was never examined before. RMSD, RMSF, hydrogen bonds, radius of gyration and SASA analysis showedthe existence of asignificant difference between the native and the mutant protein. The present study gives astrong indication that the XRCC1 locus deserves serious attention, as it could be a potential candidatecontributing to the etio-pathogenesis of the disease.

Distribution of ABO and Rh Blood Groups in Patients With Keratoconus: A Case-Control Study.

PubMed

Naderan, Mohammad; Rajabi, Mohammad Taher; Shoar, Saeed; Kamaleddin, Mohammad Amin; Naderan, Morteza; Rezagholizadeh, Farzaneh; Zolfaghari, Masoome; Pahlevani, Rozhin

2015-07-01

Association of keratoconus (KC) with genetic predisposition and environmental factors has been well documented. However, no single study has investigated the possible relationship between ABO and Rh blood groups and KC. A case-control study was designed in a university hospital enrolling 214 patients with KC in the case group and equal number of age- and sex-matched healthy subjects in the control group. Primary characteristics, ABO blood group, and Rh factors were compared between the two groups. Topographic findings of KC eyes and the severity of the diseases were investigated according to the distribution of the blood groups. Blood group O and Rh(+) phenotype were most frequent in both groups. There was no significant difference between the two groups in terms of ABO blood groups or Rh factors. Mean keratometery (K), central corneal thickness, thinnest corneal thickness, flat K, steep K, sphere and cylinder, spherical equivalent, and uncorrected visual acuity were all similar between ABO blood groups and Rh(+) and Rh(-) groups. However, the best spectacle-corrected visual acuity (BCVA) had the highest value in AB blood group (0.35 ± 0.22 logMAR, P=0.005). Moreover, the blood group AB revealed the highest frequency for grade 3 KC, followed by grades 1, 2, and 4 (P=0.003). We observed no significant excess of any particular blood group among KC cases compared with healthy subjects. Except BCVA, none of the keratometric or topographic findings was significantly different between blood groups.

The Misconception of Case-Control Studies in the Plastic Surgery Literature: A Literature Audit.

PubMed

Hatchell, Alexandra C; Farrokhyar, Forough; Choi, Matthew

2017-06-01

Case-control study designs are commonly used. However, many published case-control studies are not true case-controls and are in fact mislabeled. The purpose of this study was to identify all case-control studies published in the top three plastic surgery journals over the past 10 years, assess which were truly case-control studies, clarify the actual design of the articles, and address common misconceptions. MEDLINE, Embase, and Web of Science databases were searched for case-control studies in the three highest-impact factor plastic surgery journals (2005 to 2015). Two independent reviewers screened the resulting titles, abstracts, and methods, if applicable, to identify articles labeled as case-control studies. These articles were appraised and classified as true case-control studies or non-case-control studies. The authors found 28 articles labeled as case-control studies. However, only six of these articles (21 percent) were truly case-control designs. Of the 22 incorrectly labeled studies, one (5 percent) was a randomized controlled trial, three (14 percent) were nonrandomized trials, two (9 percent) were prospective comparative cohort designs, 14 (64 percent) were retrospective comparative cohort designs, and two (9 percent) were cross-sectional designs. The mislabeling was worse in recent years, despite increases in evidence-based medicine awareness. The majority of published case-control studies are not in fact case-control studies. This misunderstanding is worsening with time. Most of these studies are actually comparative cohort designs. However, some studies are truly clinical trials and thus a higher level of evidence than originally proposed.

The Influence of Hormonal Factors on the Risk of Developing Cervical Cancer and Pre-Cancer: Results from the EPIC Cohort

PubMed Central

Roura, Esther; Travier, Noémie; Waterboer, Tim; de Sanjosé, Silvia; Bosch, F. Xavier; Pawlita, Michael; Pala, Valeria; Weiderpass, Elisabete; Margall, Núria; Dillner, Joakim; Gram, Inger T.; Tjønneland, Anne; Munk, Christian; Palli, Domenico; Khaw, Kay-Tee; Overvad, Kim; Clavel-Chapelon, Françoise; Mesrine, Sylvie; Fournier, Agnès; Fortner, Renée T.; Ose, Jennifer; Steffen, Annika; Trichopoulou, Antonia; Lagiou, Pagona; Orfanos, Philippos; Masala, Giovanna; Tumino, Rosario; Sacerdote, Carlotta; Polidoro, Silvia; Mattiello, Amalia; Lund, Eiliv; Peeters, Petra H.; Bueno-de-Mesquita, H. B(as).; Quirós, J. Ramón; Sánchez, María-José; Navarro, Carmen; Barricarte, Aurelio; Larrañaga, Nerea; Ekström, Johanna; Lindquist, David; Idahl, Annika; Travis, Ruth C.; Merritt, Melissa A.; Gunter, Marc J.; Rinaldi, Sabina; Tommasino, Massimo; Franceschi, Silvia; Riboli, Elio; Castellsagué, Xavier

2016-01-01

Background In addition to HPV, high parity and hormonal contraceptives have been associated with cervical cancer (CC). However, most of the evidence comes from retrospective case-control studies. The aim of this study is to prospectively evaluate associations between hormonal factors and risk of developing cervical intraepithelial neoplasia grade 3 (CIN3)/carcinoma in situ (CIS) and invasive cervical cancer (ICC). Methods and Findings We followed a cohort of 308,036 women recruited in the European Prospective Investigation into Cancer and Nutrition (EPIC) Study. At enrollment, participants completed a questionnaire and provided serum. After a 9-year median follow-up, 261 ICC and 804 CIN3/CIS cases were reported. In a nested case-control study, the sera from 609 cases and 1,218 matched controls were tested for L1 antibodies against HPV types 11,16,18,31,33,35,45,52,58, and antibodies against Chlamydia trachomatis and Human herpesvirus 2. Multivariate analyses were performed to estimate hazard ratios (HR), odds ratios (OR) and corresponding 95% confidence intervals (CI). The cohort analysis showed that number of full-term pregnancies was positively associated with CIN3/CIS risk (p-trend = 0.03). Duration of oral contraceptives use was associated with a significantly increased risk of both CIN3/CIS and ICC (HR = 1.6 and HR = 1.8 respectively for ≥15 years versus never use). Ever use of menopausal hormone therapy was associated with a reduced risk of ICC (HR = 0.5, 95%CI: 0.4–0.8). A non-significant reduced risk of ICC with ever use of intrauterine devices (IUD) was found in the nested case-control analysis (OR = 0.6). Analyses restricted to all cases and HPV seropositive controls yielded similar results, revealing a significant inverse association with IUD for combined CIN3/CIS and ICC (OR = 0.7). Conclusions Even though HPV is the necessary cause of CC, our results suggest that several hormonal factors are risk factors for cervical carcinogenesis. Adherence to current cervical cancer screening guidelines should minimize the increased risk of CC associated with these hormonal risk factors. PMID:26808155

Polymorphism in the GALNT1 Gene and Epithelial Ovarian Cancer in Non-Hispanic White Women: The Ovarian Cancer Association Consortium

PubMed Central

Phelan, Catherine M.; Tsai, Ya-Yu; Goode, Ellen L.; Vierkant, Robert A.; Fridley, Brooke L.; Beesley, Jonathan; Chen, Xiao Qing; Webb, Penelope M.; Chanock, Stephen; Cramer, Daniel W.; Moysich, Kirsten; Edwards, Robert P.; Chang-Claude, Jenny; Garcia-Closas, Montserrat; Yang, Hannah; Wang-Gohrke, Shan; Hein, Rebecca; Green, Adele C.; Lissowska, Jolanta; Carney, Michael E.; Lurie, Galina; Wilkens, Lynne R.; Ness, Roberta B.; Pearce, Celeste Leigh; Wu, Anna H.; Van Den Berg, David J.; Stram, Daniel O.; Terry, Kathryn L.; Whiteman, David C.; Whittemore, Alice S.; DiCioccio, Richard A.; McGuire, Valerie; Doherty, Jennifer A.; Rossing, Mary Anne; Anton-Culver, Hoda; Ziogas, Argyrios; Hogdall, Claus; Hogdall, Estrid; Kjaer, Susanne Krüger; Blaakaer, Jan; Quaye, Lydia; Ramus, Susan J.; Jacobs, Ian; Song, Honglin; Pharoah, Paul D.P.; Iversen, Edwin S.; Marks, Jeffrey R.; Pike, Malcolm C.; Gayther, Simon A.; Cunningham, Julie M.; Goodman, Marc T.; Schildkraut, Joellen M.; Chenevix-Trench, Georgia; Berchuck, Andrew; Sellers, Thomas A.

2010-01-01

Aberrant glycosylation is a well-described hallmark of cancer. In a previous ovarian cancer case control study that examined polymorphisms in 26 glycosylation-associated genes, we found strong statistical evidence (P = 0.00017) that women who inherited two copies of a single-nucleotide polymorphism in the UDP-N-acetylgalactosamine:polypeptide N-acetylgalactosaminyltransferase, GALNT1, had decreased ovarian cancer risk. The current study attempted to replicate this observation. The GALNT1 single-nucleotide polymorphism rs17647532 was genotyped in 6,965 cases and 8,377 controls from 14 studies forming the Ovarian Cancer Association Consortium. The fixed effects estimate per rs17647532 allele was null (odds ratio, 0.99; 95% confidence interval, 0.92–1.07). When a recessive model was fit, the results were unchanged. Test for hetero geneity of the odds ratios revealed consistency across the 14 replication sites but significant differences compared with the original study population (P = 0.03). This study underscores the need for replication of putative findings in genetic association studies. PMID:20142253

Long-term mobile phone use and acoustic neuroma risk.

PubMed

Pettersson, David; Mathiesen, Tiit; Prochazka, Michaela; Bergenheim, Tommy; Florentzson, Rut; Harder, Henrik; Nyberg, Gunnar; Siesjö, Peter; Feychting, Maria

2014-03-01

There is concern about potential effects of radiofrequency fields generated by mobile phones on cancer risk. Most previous studies have found no association between mobile phone use and acoustic neuroma, although information about long-term use is limited. We conducted a population-based, nation-wide, case-control study of acoustic neuroma in Sweden. Eligible cases were persons aged 20 to 69 years, who were diagnosed between 2002 and 2007. Controls were randomly selected from the population registry, matched on age, sex, and residential area. Postal questionnaires were completed by 451 cases (83%) and 710 controls (65%). Ever having used mobile phones regularly (defined as weekly use for at least 6 months) was associated with an odds ratio (OR) of 1.18 (95% confidence interval = 0.88 to 1.59). The association was weaker for the longest induction time (≥10 years) (1.11 [0.76 to 1.61]) and for regular use on the tumor side (0.98 [0.68 to 1.43]). The OR for the highest quartile of cumulative calling time (≥680 hours) was 1.46 (0.98 to 2.17). Restricting analyses to histologically confirmed cases reduced all ORs; the OR for ≥680 hours was 1.14 (0.63 to 2.07). A similar pattern was seen for cordless land-line phones, although with slightly higher ORs. Analyses of the complete history of laterality of mobile phone revealed considerable bias in laterality analyses. The findings do not support the hypothesis that long-term mobile phone use increases the risk of acoustic neuroma. The study suggests that phone use might increase the likelihood that an acoustic neuroma case is detected and that there could be bias in the laterality analyses performed in previous studies.

Evidence for rare and common genetic risk variants for schizophrenia at protein kinase C, alpha.

PubMed

Carroll, L S; Williams, N M; Moskvina, V; Russell, E; Norton, N; Williams, H J; Peirce, T; Georgieva, L; Dwyer, S; Grozeva, D; Greene, E; Farmer, A; McGuffin, P; Morris, D W; Corvin, A; Gill, M; Rujescu, D; Sham, P; Holmans, P; Jones, I; Kirov, G; Craddock, N; O'Donovan, M C; Owen, M J

2010-11-01

We earlier reported a genome-wide significant linkage to schizophrenia at chromosome 17 that was identified in a single pedigree (C702) consisting of six affected, male siblings with DSM-IV schizophrenia and prominent mood symptoms. In this study, we adopted several approaches in an attempt to map the putative disease locus. First, mapping the source of linkage to chromosome 17 in pedigree C702. We refined the linkage region in family C702 to a 21-marker segment spanning 11.7 Mb at 17q23-q24 by genotyping a total of 50 microsatellites across chromosome 17 in the pedigree. Analysis of data from 1028 single nucleotide polymorphisms (SNPs) across the refined linkage region identified a single region of homozygosity present in pedigree C702 but not in 2938 UK controls. This spanned ~432 kb of the gene encoding protein kinase C, alpha (PRKCA), the encoded protein of which has been implicated in the pathogenesis of psychiatric disorders. Analysis of pedigree C702 by oligonucleotide-array comparative genome hybridization excluded the possibility that this region of homozygosity was because of a deletion. Mutation screening of PRKCA identified a rare, four-marker haplotype (C-HAP) in the 3' untranslated region of the gene, which was present in the homozygous state in all six affected members of pedigree C702. No other homozygotes were observed in genotype data for a total of 6597 unrelated Europeans (case N=1755, control N=3580 and parents of probands N=1262). Second, association analysis of C702 alleles at PRKCA. The low-frequency haplotype (C-HAP) showed a trend for association in a study of unrelated schizophrenia cases and controls from the UK (661 cases, 2824 controls, P=0.078 and odd ratio (OR)=1.9) and significant evidence for association when the sample was expanded to include cases with bipolar (N=710) and schizoaffective disorder (N=50) (psychosis sample: 1421 cases, 2824 controls, P=0.037 and OR=1.9). Given that all the affected members of C702 are male, we also undertook sex-specific analyses. This revealed that the association was strongest in males for both schizophrenia (446 male cases, 1421 male controls, P=0.008 and OR=3.9) and in the broader psychosis group (730 male cases, 1421 male controls, P=0.008 and OR=3.6). Analysis of C-HAP in follow-up samples from Ireland and Bulgaria revealed no evidence for association in either the whole sample or in males alone, and meta-analysis of all male psychosis samples yielded no significant evidence of association (969 male cases, 1939 male controls, 311 male probands P=0.304 and OR=1.4). Third, association mapping of the pedigree C702 linkage region. Independent of pedigree C702, genotype data from the Affymetrix 500k GeneChip set were available for 476 patients with schizophrenia and 2938 controls from the United Kingdom. SNPs in PRKCA showed evidence for association with schizophrenia that achieved gene-wide significance (P=0.027). Moreover, the same SNP was the most significantly associated marker out of the 1028 SNPs genotyped across the linkage region (rs873417, allelic P=0.0004). Follow-up genotyping in samples from Ireland, Bulgaria and Germany did not show consistent replication, but meta-analysis of all samples (4116 cases and 6491 controls) remained nominally significant (meta-analysis P=0.026, OR=1.1). We conclude that, although we have obtained convergent lines of evidence implicating both rare and common schizophrenia risk variants at PRKCA, none of these is individually compelling. However, the evidence across all approaches suggests that further study of this locus is warranted.

Adaptive Control Model Reveals Systematic Feedback and Key Molecules in Metabolic Pathway Regulation

PubMed Central

Moffitt, Richard A.; Merrill, Alfred H.; Wang, May D.

2011-01-01

Abstract Robust behavior in metabolic pathways resembles stabilized performance in systems under autonomous control. This suggests we can apply control theory to study existing regulation in these cellular networks. Here, we use model-reference adaptive control (MRAC) to investigate the dynamics of de novo sphingolipid synthesis regulation in a combined theoretical and experimental case study. The effects of serine palmitoyltransferase over-expression on this pathway are studied in vitro using human embryonic kidney cells. We report two key results from comparing numerical simulations with observed data. First, MRAC simulations of pathway dynamics are comparable to simulations from a standard model using mass action kinetics. The root-sum-square (RSS) between data and simulations in both cases differ by less than 5%. Second, MRAC simulations suggest systematic pathway regulation in terms of adaptive feedback from individual molecules. In response to increased metabolite levels available for de novo sphingolipid synthesis, feedback from molecules along the main artery of the pathway is regulated more frequently and with greater amplitude than from other molecules along the branches. These biological insights are consistent with current knowledge while being new that they may guide future research in sphingolipid biology. In summary, we report a novel approach to study regulation in cellular networks by applying control theory in the context of robust metabolic pathways. We do this to uncover potential insight into the dynamics of regulation and the reverse engineering of cellular networks for systems biology. This new modeling approach and the implementation routines designed for this case study may be extended to other systems. Supplementary Material is available at www.liebertonline.com/cmb. PMID:21314456

Polymorphism of SMAD7 gene (rs2337104) and risk of colorectal cancer in an Iranian population: a case-control study

PubMed Central

Akbari, Zahra; Safari-Alighiarloo, Nahid; Taleghani, Mohammad Yaghoob; Mirfakhar, Farzaneh Sadat; Asadzadeh Aghdaei, Hamid; Vahedi, Mohsen; Irani Shemirani, Atena; Nazemalhosseini-Mojarad, Ehsan; Zali, Mohammad Reza

2014-01-01

Aim: The purpose of this study was to evaluate the influence of intronic polymorphism of the SMAD7 (Mothers Against Decantaplegic Homolog 7) gene (rs2337104) on the risk of colorectal cancer (CRC) and clinicopathological features in an Iranian population. Background: SMAD7 has been identified as an antagonist of transforming growth factor beta (TGF-b)-mediating fibrosis, carcinogenesis, and inflammation. Regarding to the recent genome-wide scan, a risk locus for colorectal cancer at 18q21 has been found, which maps to the SMAD7 gene. Patients and methods: This case-control study was performed on 109 CRC patients and 109 healthy controls recruited in Taleghani Hospital. The genotyping of all samples were done by TaqMan assay via an ABI 7500 Real Time PCR System (Applied Biosystems) with DNA from peripheral blood. The association of this polymorphism with the risk of CRC and clinicopathological features was investigated. Results: Our results indicated that there were no significant association between genotypic and allelic frequencies of SMAD7 polymorphism (rs2337104) and CRC risk in our population. Although the T allele is the most frequent one in this population and its frequency was 86.7% in patients compared with 91.7% in controls (OR=1.705, 95% CI= 0.916–3.172). Also, the SMAD7 genotypes were not associated with any clinicopathological characteristics in CRC patients (P>0.05). Conclusion: For the first time, this study results revealed that this SMAD7 polymorphism couldn’t be a potential risk factor for CRC or a prognostic biomarker for prediction of clinicopathological features in an Iranian population. A large-scale case-control study is needed to validate our results. PMID:25289133

Protective and risk factors in amateur equestrians and description of injury patterns: A retrospective data analysis and a case - control survey

PubMed Central

2011-01-01

Background In Switzerland there are about 150,000 equestrians. Horse related injuries, including head and spinal injuries, are frequently treated at our level I trauma centre. Objectives To analyse injury patterns, protective factors, and risk factors related to horse riding, and to define groups of safer riders and those at greater risk Methods We present a retrospective and a case-control survey at conducted a tertiary trauma centre in Bern, Switzerland. Injured equestrians from July 2000 - June 2006 were retrospectively classified by injury pattern and neurological symptoms. Injured equestrians from July-December 2008 were prospectively collected using a questionnaire with 17 variables. The same questionnaire was applied in non-injured controls. Multiple logistic regression was performed, and combined risk factors were calculated using inference trees. Results Retrospective survey A total of 528 injuries occured in 365 patients. The injury pattern revealed as follows: extremities (32%: upper 17%, lower 15%), head (24%), spine (14%), thorax (9%), face (9%), pelvis (7%) and abdomen (2%). Two injuries were fatal. One case resulted in quadriplegia, one in paraplegia. Case-control survey 61 patients and 102 controls (patients: 72% female, 28% male; controls: 63% female, 37% male) were included. Falls were most frequent (65%), followed by horse kicks (19%) and horse bites (2%). Variables statistically significant for the controls were: Older age (p = 0.015), male gender (p = 0.04) and holding a diploma in horse riding (p = 0.004). Inference trees revealed typical groups less and more likely to suffer injury. Conclusions Experience with riding and having passed a diploma in horse riding seem to be protective factors. Educational levels and injury risk should be graded within an educational level-injury risk index. PMID:21294862

Evaluating executive function in schoolchildren with symptoms of attention deficit hyperactivity disorder.

PubMed

Vélez-van-Meerbeke, A; Zamora, I P; Guzmán, G; Figueroa, B; López Cabra, C A; Talero-Gutiérrez, C

2013-01-01

To identify impairment of executive functions (EF) in children with attention deficit hyperactivity disorder (ADHD). A case-control study was performed on a sample of schoolchildren with low socioeconomic levels in Bogota, Colombia. ADHD was diagnosed using the DSM IV checklist and the Behavior Assessment System for Children scale. Children with cognitive deficits were excluded. We evaluated scores from six measurements of executive function (EF). We conducted a bivariate statistical analysis to compare the variables, a multivariate study controlled by sex and age, and a logistic regression analysis. The study sample included 119 children with ADHD and 85 controls, all aged between 6 and 12 years. Controlling by sex, age, and type of school showed that EF measurements in children with ADHD were significantly more impaired than in controls, especially for measurements of verbal and graphic fluency, Rey-Osterrieth Complex Figure, and cognitive flexibility. Comparison of ADHD subgroups showed that results in children with multiple deficits were similar to those in the global ADHD group. Graphic fluency impairment was the sole impairment in cases with only attention deficit or only hyperactivity-impulsivity manifestations. EF measures in children with ADHD revealed more problems, particularly those having to do within planning, inhibition, working memory and cognitive control. Age and sex may affect the degree of EF impairment. Copyright © 2012 Sociedad Española de Neurología. Published by Elsevier Espana. All rights reserved.

Delivery room continuous positive airway pressure and early pneumothorax in term newborn infants.

PubMed

Clevenger, L; Britton, J R

2017-01-01

To assess the association between delivery room (DR) continuous positive airway pressure (CPAP) and pneumothorax (PT) in term newborns. Two studies performed in community hospitals used data extracted from computerized records of term newborns. Infants receiving positive pressure ventilation in the DR were excluded. Tabulated data included receipt of DR CPAP, PT on the day of birth, and gestational age (GA). In a case-control study from 2001-2013, infants with PT were compared to controls without PT but with respiratory distress or hypoxia persisting from birth for receipt of DR CPAP. In a cohort study from 2014-2016, infants receiving and not receiving DR CPAP were compared for the incidence of PT. In the case-control study, data were obtained for 169 cases and 850 controls. Compared to controls, PT infants were more likely to have received DR CPAP (16.8% vs. 40.2%, respectively, P < 0.001). Logistic regression revealed DR CPAP (Adjusted Odds Ratio [AOR] = 3.30, 95% confidence interval [CI] = 2.31, 4.72, P < 0.001) and GA (AOR = 1.21, 95% CI = 1.05, 1.39, P = 0.009) to be independent predictors of early PT.In the cohort study, PT was observed in 0.1% of 9255 control infants not receiving DR CPAP and 4.8% of 228 infants receiving DR CPAP (P < 0.001). In logistic regression analyses, DR CPAP significantly predicted PT (OR = 59.59, 95% CI = 23.34, 147.12, P < 0.001) and remained a significant predictor of PT after controlling for gestational age. Respiratory conditions treated with CPAP in delivery rooms are associated with increased risk of PT. A cause-and-effect relationship between CPAP and PT cannot be claimed in this study. Further research is needed to better understand this relationship.

Evidence of Recessive Alzheimer Disease Loci in a Caribbean Hispanic Data Set

PubMed Central

Ghani, Mahdi; Sato, Christine; Lee, Joseph H.; Reitz, Christiane; Moreno, Danielle; Mayeux, Richard; St George-Hyslop, Peter; Rogaeva, Ekaterina

2014-01-01

IMPORTANCE The search for novel Alzheimer disease (AD) genes or pathologic mutations within known AD loci is ongoing. The development of array technologies has helped to identify rare recessive mutations among long runs of homozygosity (ROHs), in which both parental alleles are identical. Caribbean Hispanics are known to have an elevated risk for AD and tend to have large families with evidence of inbreeding. OBJECTIVE To test the hypothesis that the late-onset AD in a Caribbean Hispanic population might be explained in part by the homozygosity of unknown loci that could harbor recessive AD risk haplotypes or pathologic mutations. DESIGN We used genome-wide array data to identify ROHs (>1 megabase) and conducted global burden and locus-specific ROH analyses. SETTING A whole-genome case-control ROH study. PARTICIPANTS A Caribbean Hispanic data set of 547 unrelated cases (48.8% with familial AD) and 542 controls collected from a population known to have a 3-fold higher risk of AD vs non-Hispanics in the same community. Based on a Structure program analysis, our data set consisted of African Hispanic (207 cases and 192 controls) and European Hispanic (329 cases and 326 controls) participants. EXPOSURE Alzheimer disease risk genes. MAIN OUTCOMES AND MEASURES We calculated the total and mean lengths of the ROHs per sample. Global burden measurements among autosomal chromosomes were investigated in cases vs controls. Pools of overlapping ROH segments (consensus regions) were identified, and the case to control ratio was calculated for each consensus region. We formulated the tested hypothesis before data collection. RESULTS In total, we identified 17 137 autosomal regions with ROHs. The mean length of the ROH per person was significantly greater in cases vs controls (P = .0039), and this association was stronger with familial AD (P = .0005). Among the European Hispanics, a consensus region at the EXOC4 locus was significantly associated with AD even after correction for multiple testing (empirical P value 1 [EMP1], .0001; EMP2, .002; 21 AD cases vs 2 controls). Among the African Hispanic subset, the most significant but nominal association was observed for CTNNA3, a well-known AD gene candidate (EMP1, .002; 10 AD cases vs 0 controls). CONCLUSIONS AND RELEVANCE Our results show that ROHs could significantly contribute to the etiology of AD. Future studies would require the analysis of larger, relatively inbred data sets that might reveal novel recessive AD genes. The next step is to conduct sequencing of top significant loci in a subset of samples with overlapping ROHs. PMID:23978990

Factors related to falls among community dwelling elderly.

PubMed

Kuhirunyaratn, Piyathida; Prasomrak, Prasert; Jindawong, Bangonsri

2013-09-01

Falls among the elderly can lead to disability, hospitalization and premature death. This study aimed to determine the factors related to falls among community dwelling elderly. This case-control study was conducted at the Samlium Primary Care Unit (SPCU), Khon Kaen, Thailand. Cases were elderly individuals who had fallen within the previous six months and controls were elderly who had not fallen during that same time period. Subjects were taken from elderly persons registered at the SPCU. The sample size was calculated to be 111 cases and 222 controls. Face to face interviews were conducted with subjects between May and June, 2011. The response rate was 100%. On bivariate analysis, the statistically significant factors related to falls were: regular medication use, co-morbidities, mobility, depression, cluttered rooms, slippery floors, unsupported toilets (without a hand rail), sufficient exercise, rapid posture change and wearing slippers. When controlling for others significant factors, multiple logistic regression revealed significant factors were: regular medication use (AOR: 2.22; 95%CI: 1.19 - 4.12), depression (AOR: 1.76, 95% CI: 1.03 - 2.99), sufficient exercise (AOR: 0.34; 95% CI: 0.19 - 0.58) and wearing slippery shoes (AOR: 2.31; 95% CI: 1.24 - 4.29). Interventions need to be considered to modify these significant factors associated with falls and education should be provided to these at risk.

No association of SORL1 SNPs with Alzheimer's disease.

PubMed

Minster, Ryan L; DeKosky, Steven T; Kamboh, M Ilyas

2008-08-01

SORL1 is an element of the amyloid precursor protein processing pathway and is therefore a good candidate for affecting Alzheimer's disease (AD) risk. Indeed, there have been reports of associations between variation in SORL1 and AD risk. We examined six statistically significant single-nucleotide polymorphisms from the initial observation in a large Caucasian American case-controls cohort (1000 late-onset AD [LOAD] cases and 1000 older controls). Analysis of allele, genotype and haplotype frequencies revealed no association with LOAD risk in our cohort.

Distribution of, and risk factors associated with, sheep carcass condemnations due to Cysticercus ovis infection on Canadian sheep farms.

PubMed

DeWolf, Bradley D; Peregrine, Andrew S; Jones-Bitton, Andria; Jansen, Jocelyn T; Mactavish, Jennifer; Menzies, Paula I

2012-12-21

Cysticercus ovis, the intermediate stage of a canine tapeworm, Taenia ovis, produces cystic lesions in the skeletal and cardiac muscle of sheep which, if numerous, will result in the condemnation of an entire carcass. In 2007 and 2008, the number of carcass condemnations due to C. ovis rose dramatically across Canada, suggesting that the prevalence of this infection on sheep farms was increasing. Trace-back of 237 carcasses condemned at Ontario provincially inspected abattoirs, between March 2009 and March 2011, revealed they originated from 133 farms across Canada. A case-control study was performed (n=40 cases, 56 controls) to identify farm-level risk factors associated with carcass condemnations due to C. ovis. Participating farms, located in Alberta, Saskatchewan, Manitoba and Ontario, were asked to answer a short questionnaire which collected information about each farm's geographic location and management practices. A multivariable logistic regression model revealed that farm dogs scavenging deadstock (OR=4.04; 95% CI: 1.16-14.04) and failing to dispose of deadstock (OR=11.78; 95% CI: 2.93-47.40) were significantly associated with condemnations (p ≤ 0.05). Copyright © 2012 Elsevier B.V. All rights reserved.

Genomic investigation of porcine periweaning failure to thrive syndrome (PFTS).

PubMed

Bertolini, Francesca; Yang, Tianfu; Huang, Yanyun; Harding, John C S; Plastow, Graham S; Rothschild, Max F

2018-04-25

Porcine periweaning failure to thrive syndrome (PFTS) can be defined by anorexia, lethargy, progressive debilitation and compulsive behaviours that occur in seemingly healthy pigs within two to threeweeks of weaning in the absence of any known infectious, nutritional, management or environmental factors. A genetic component has been hypothesised for this syndrome. In the present study, 119 commercial pigs (80 cases and 39 controls) were genotyped with the porcine 80K single nucleotide polymorphism-chip and were analysed with logistic regression and two Fixation Index-based approaches. The analyses revealed several regions on chromosomes 1, 3, 6 and 11 with moderate divergence between cases and controls, particularly three haplotypes on SSC3 and 11. The gene-based analyses of the candidate regions revealed the presence of genes that have been reported to be associated with phenotypes like PFST including depression ( PDE10A ) and intestinal villous atrophy ( CUL4A ). It is important to increase the effort of collecting more samples to improve the power of these analyses. © British Veterinary Association (unless otherwise stated in the text of the article) 2018. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

Pooled Resequencing of 122 Ulcerative Colitis Genes in a Large Dutch Cohort Suggests Population-Specific Associations of Rare Variants in MUC2.

PubMed

Visschedijk, Marijn C; Alberts, Rudi; Mucha, Soren; Deelen, Patrick; de Jong, Dirk J; Pierik, Marieke; Spekhorst, Lieke M; Imhann, Floris; van der Meulen-de Jong, Andrea E; van der Woude, C Janneke; van Bodegraven, Adriaan A; Oldenburg, Bas; Löwenberg, Mark; Dijkstra, Gerard; Ellinghaus, David; Schreiber, Stefan; Wijmenga, Cisca; Rivas, Manuel A; Franke, Andre; van Diemen, Cleo C; Weersma, Rinse K

2016-01-01

Genome-wide association studies have revealed several common genetic risk variants for ulcerative colitis (UC). However, little is known about the contribution of rare, large effect genetic variants to UC susceptibility. In this study, we performed a deep targeted re-sequencing of 122 genes in Dutch UC patients in order to investigate the contribution of rare variants to the genetic susceptibility to UC. The selection of genes consists of 111 established human UC susceptibility genes and 11 genes that lead to spontaneous colitis when knocked-out in mice. In addition, we sequenced the promoter regions of 45 genes where known variants exert cis-eQTL-effects. Targeted pooled re-sequencing was performed on DNA of 790 Dutch UC cases. The Genome of the Netherlands project provided sequence data of 500 healthy controls. After quality control and prioritization based on allele frequency and pathogenicity probability, follow-up genotyping of 171 rare variants was performed on 1021 Dutch UC cases and 1166 Dutch controls. Single-variant association and gene-based analyses identified an association of rare variants in the MUC2 gene with UC. The associated variants in the Dutch population could not be replicated in a German replication cohort (1026 UC cases, 3532 controls). In conclusion, this study has identified a putative role for MUC2 on UC susceptibility in the Dutch population and suggests a population-specific contribution of rare variants to UC.

Arms Control and National Security: Revealed through Two Case Studies

DTIC Science & Technology

1988-03-01

national security. Those in the service, while charged to carry out the orders of those appointed over them, possess a potential to influence national...the sixth point , of the stated six major national security goals of the present Administration. Not everyone would [ agree with such a placement...the other side concede some point at the bargaining table. 0 A defense bargain is a relative term relating to how much security or strength a

Common variant at 16p11.2 conferring risk of psychosis.

PubMed

Steinberg, S; de Jong, S; Mattheisen, M; Costas, J; Demontis, D; Jamain, S; Pietiläinen, O P H; Lin, K; Papiol, S; Huttenlocher, J; Sigurdsson, E; Vassos, E; Giegling, I; Breuer, R; Fraser, G; Walker, N; Melle, I; Djurovic, S; Agartz, I; Tuulio-Henriksson, A; Suvisaari, J; Lönnqvist, J; Paunio, T; Olsen, L; Hansen, T; Ingason, A; Pirinen, M; Strengman, E; Hougaard, D M; Orntoft, T; Didriksen, M; Hollegaard, M V; Nordentoft, M; Abramova, L; Kaleda, V; Arrojo, M; Sanjuán, J; Arango, C; Etain, B; Bellivier, F; Méary, A; Schürhoff, F; Szoke, A; Ribolsi, M; Magni, V; Siracusano, A; Sperling, S; Rossner, M; Christiansen, C; Kiemeney, L A; Franke, B; van den Berg, L H; Veldink, J; Curran, S; Bolton, P; Poot, M; Staal, W; Rehnstrom, K; Kilpinen, H; Freitag, C M; Meyer, J; Magnusson, P; Saemundsen, E; Martsenkovsky, I; Bikshaieva, I; Martsenkovska, I; Vashchenko, O; Raleva, M; Paketchieva, K; Stefanovski, B; Durmishi, N; Pejovic Milovancevic, M; Lecic Tosevski, D; Silagadze, T; Naneishvili, N; Mikeladze, N; Surguladze, S; Vincent, J B; Farmer, A; Mitchell, P B; Wright, A; Schofield, P R; Fullerton, J M; Montgomery, G W; Martin, N G; Rubino, I A; van Winkel, R; Kenis, G; De Hert, M; Réthelyi, J M; Bitter, I; Terenius, L; Jönsson, E G; Bakker, S; van Os, J; Jablensky, A; Leboyer, M; Bramon, E; Powell, J; Murray, R; Corvin, A; Gill, M; Morris, D; O'Neill, F A; Kendler, K; Riley, B; Craddock, N; Owen, M J; O'Donovan, M C; Thorsteinsdottir, U; Kong, A; Ehrenreich, H; Carracedo, A; Golimbet, V; Andreassen, O A; Børglum, A D; Mors, O; Mortensen, P B; Werge, T; Ophoff, R A; Nöthen, M M; Rietschel, M; Cichon, S; Ruggeri, M; Tosato, S; Palotie, A; St Clair, D; Rujescu, D; Collier, D A; Stefansson, H; Stefansson, K

2014-01-01

Epidemiological and genetic data support the notion that schizophrenia and bipolar disorder share genetic risk factors. In our previous genome-wide association study, meta-analysis and follow-up (totaling as many as 18 206 cases and 42 536 controls), we identified four loci showing genome-wide significant association with schizophrenia. Here we consider a mixed schizophrenia and bipolar disorder (psychosis) phenotype (addition of 7469 bipolar disorder cases, 1535 schizophrenia cases, 333 other psychosis cases, 808 unaffected family members and 46 160 controls). Combined analysis reveals a novel variant at 16p11.2 showing genome-wide significant association (rs4583255[T]; odds ratio=1.08; P=6.6 × 10(-11)). The new variant is located within a 593-kb region that substantially increases risk of psychosis when duplicated. In line with the association of the duplication with reduced body mass index (BMI), rs4583255[T] is also associated with lower BMI (P=0.0039 in the public GIANT consortium data set; P=0.00047 in 22 651 additional Icelanders).

Bilateral deficits in fine motor control and pinch grip force are not associated with electrodiagnostic findings in women with carpal tunnel syndrome.

PubMed

de la Llave-Rincón, Ana Isabel; Fernández-de-Las-Peñas, César; Pérez-de-Heredia-Torres, Marta; Martínez-Perez, Almudena; Valenza, Marie Carmen; Pareja, Juan A

2011-06-01

: The aim of this study was to analyze the differences in deficits in fine motor control and pinch grip force between patients with minimal, moderate/mild, or severe carpal tunnel syndrome (CTS) and healthy age- and hand dominance-matched controls. : A case-control study was conducted. The subtests of the Purdue Pegboard Test (one-hand and bilateral pin placements and assemblies) and pinch grip force between the thumb and the remaining four fingers of the hand were bilaterally evaluated in 66 women with minimal (n = 16), moderate (n = 16), or severe (n = 34) CTS and in 20 age- and hand-matched healthy women. The differences among the groups were analyzed using different mixed models of analysis of variance. : A two-way mixed analysis of variance revealed significant differences between groups, not depending on the presence of unilateral or bilateral symptoms (side), for the one-hand pin placement subtest: patients showed bilateral lower scores compared with controls (P < 0.001), without differences among those with minimal, moderate, or severe CTS (P = 0.946). The patients also exhibited lower scores in bilateral pin placement (P < 0.001) and assembly (P < 0.001) subtests, without differences among them. The three-way analysis of variance revealed significant differences among groups (P < 0.001) and fingers (P < 0.001), not depending on the presence of unilateral/bilateral symptoms (P = 0.684), for pinch grip force: patients showed bilateral lower pinch grip force in all fingers compared with healthy controls, without differences among those with minimal, moderate, or severe CTS. : The current study revealed similar bilateral deficits in fine motor control and pinch grip force in patients with minimal, moderate, or severe CTS, supporting that fine motor control deficits are a common feature of CTS not associated with electrodiagnostic findings.

Exploring hypersexual behavior in men with Parkinson's disease: is it compulsive sexual behavior?

PubMed

Bronner, Gila; Hassin-Baer, Sharon

2012-01-01

A range of impulse control disorders has been described in Parkinson's disease, including compulsive sexual behavior. Excessive sexual demands of parkinsonian men can lead to considerable tension within the couple. Thorough sexual interviews reveal that these cases may reflect various types of sexual dysfunctions that present as hypersexuality. This study aims to analyze cases of presumed and true compulsive male sexual behavior, and to propose a practical tool for clinicians, assisting them with the diagnosis and management of compulsive sexual behavior and other sexual dysfunctions in parkinsonian patients. We describe four male patients with Parkinson's disease from the movement disorders clinic, which were referred to the sex therapist as suspected hypersexuality. The sexual assessment revealed that only one of the cases involved true hypersexuality due to compulsive sexual behavior. The other three presented with erectile dysfunction, difficulties reaching orgasm (delayed ejaculation), and a gap in desire within the couple. Complaints about hypersexual behavior in patients with Parkinson's disease must be carefully evaluated, involving a multidisciplinary team. A comprehensive diagnostic and therapeutic algorithm is suggested.

Creative compliance in pharmaceutical markets: the case of profit controls.

PubMed

Bradley, James; Vandoros, Sotiris

2012-02-01

This article discusses the issue of creative compliance in pharmaceutical markets. In particular, we explore the case of profit controls in the UK as an indirect way of regulating prices of in-patent originators. We study creative compliance in the presence of profit controls, rather than price controls or the Pharmaceutical Price Regulation Scheme in general. We use lessons from the accounting literature to explain firm behavior and reveal potential weaknesses in profit control regulation and use data to show changes in trends following the introduction of this policy. We demonstrate that in the presence of profit controls there is an incentive for producers to increase costs (leading to inefficiencies) or to inflate reported costs. We find some evidence that the behavior of pharmaceutical firms in the UK may have changed as a result of the introduction of profit controls. Although the evidence is in line with what we would expect to occur as a result of creative compliance, establishing a concrete causal relationship between such a pricing policy and costs is not possible. As institutions or organizations look to achieve legitimacy for their actions, they will use the tools they have, whether accounting or regulatory, to best represent themselves.

Dental plaque microbial profiles of children from Khartoum, Sudan, with congenital heart defects

PubMed Central

Mohamed Ali, Hiba; Berggreen, Ellen; Nguyen, Daniel; Wahab Ali, Raouf; Van Dyke, Thomas E.; Hasturk, Hatice; Mustafa, Manal

2017-01-01

ABSTRACT Few studies have focused on the bacterial species associated with the deterioration of the dental and gingival health of children with congenital heart defects (CHD). The aims of this study were (1) to examine the dental plaque of children with CHD in order to quantify bacterial load and altered bacterial composition compared with children without CHD; and (2) to investigate the correlation between the level of caries and gingivitis and dental biofilm bacteria among those children. In this cross-sectional study, participants were children (3–12 years) recruited in Khartoum State, Sudan. A total of 80 CHD cases from the Ahmed Gasim Cardiac Centre and 80 healthy controls from randomly selected schools and kindergartens were included. Participants underwent clinical oral examinations for caries (decayed, missing, and filled teeth indices [DMFT] for primary dentition, and DMFT for permanent dentition), and gingivitis (simplified gingival index [GI]). Pooled dental biofilm samples were obtained from four posterior teeth using paper points. Real-time quantitative polymerase chain reaction was used for the detection and quantification of Streptococcus mutans, Streptococcussanguinis, and Lactobacillus acidophilus. Checkerboard DNA–DNA hybridization was used for the detection of 40 additional bacterial species. CHD cases had a significantly higher caries experience (DMFT = 4.1 vs. 2.3, p < 0.05; DMFT = 1.4 vs. 0.7, p < 0.05) and a higher mean number of examined teeth with gingivitis (4.2 vs. 2.0; p < 0.05) compared with controls. S. mutans counts were significantly higher among the CHD cases (p < 0.05). Checkerboard results revealed that 18/40 bacterial species exhibited significantly higher mean counts among CHD cases (p < 0.01). Correlation analyses revealed that among CHD cases, the detection levels of Tannerella forsythia, Campylobacter rectus, Fusobacterium nucleatum subsp. vincentii, F. nucleatum subsp. nucleatum, and F. nucleatum subsp. polymorphum were highly positively correlated with GI. CHD cases harbor more cariogenic and periodontopathogenic bacterial species in their dental plaque, which correlated with higher levels of caries and gingivitis. PMID:28326155

Dental plaque microbial profiles of children from Khartoum, Sudan, with congenital heart defects.

PubMed

Mohamed Ali, Hiba; Berggreen, Ellen; Nguyen, Daniel; Wahab Ali, Raouf; Van Dyke, Thomas E; Hasturk, Hatice; Mustafa, Manal

2017-01-01

Few studies have focused on the bacterial species associated with the deterioration of the dental and gingival health of children with congenital heart defects (CHD). The aims of this study were (1) to examine the dental plaque of children with CHD in order to quantify bacterial load and altered bacterial composition compared with children without CHD; and (2) to investigate the correlation between the level of caries and gingivitis and dental biofilm bacteria among those children. In this cross-sectional study, participants were children (3-12 years) recruited in Khartoum State, Sudan. A total of 80 CHD cases from the Ahmed Gasim Cardiac Centre and 80 healthy controls from randomly selected schools and kindergartens were included. Participants underwent clinical oral examinations for caries (decayed, missing, and filled teeth indices [DMFT] for primary dentition, and DMFT for permanent dentition), and gingivitis (simplified gingival index [GI]). Pooled dental biofilm samples were obtained from four posterior teeth using paper points. Real-time quantitative polymerase chain reaction was used for the detection and quantification of Streptococcus mutans , Streptococcus sanguinis, and Lactobacillus acidophilus . Checkerboard DNA-DNA hybridization was used for the detection of 40 additional bacterial species. CHD cases had a significantly higher caries experience (DMFT = 4.1 vs. 2.3, p  < 0.05; DMFT = 1.4 vs. 0.7, p  < 0.05) and a higher mean number of examined teeth with gingivitis (4.2 vs. 2.0; p  < 0.05) compared with controls. S. mutans counts were significantly higher among the CHD cases ( p  < 0.05). Checkerboard results revealed that 18/40 bacterial species exhibited significantly higher mean counts among CHD cases ( p  < 0.01). Correlation analyses revealed that among CHD cases, the detection levels of Tannerella forsythia, Campylobacter rectus, Fusobacterium nucleatum subsp. vincentii, F. nucleatum subsp. nucleatum , and F. nucleatum subsp. polymorphum were highly positively correlated with GI. CHD cases harbor more cariogenic and periodontopathogenic bacterial species in their dental plaque, which correlated with higher levels of caries and gingivitis.

Risky sexual behaviour in context: qualitative results from an investigation into risk factors for seroconversion among gay men who test for HIV.

PubMed

Elam, G; Macdonald, N; Hickson, F C I; Imrie, J; Power, R; McGarrigle, C A; Fenton, K A; Gilbart, V L; Ward, H; Evans, B G

2008-11-01

The INSIGHT case-control study confirmed that HIV serodiscordant unprotected anal intercourse (SdUAI) remains the primary risk factor for HIV infection in gay men in England. This paper uses qualitative follow-up data to examine the contexts of SdUAI and other risk factors among the case-control study participants. In-depth interviews were conducted with 26 recent HIV seroconverters and 22 non-converters. Purposive selection was used to provide diversity in demographics and sexual behaviour and to facilitate exploration of risk factors identified in the case-control study. Condoms were perceived as barriers to intimacy, trust and spontaneity. The potential consequences of the loss of these were traded off against the consequences of HIV infection. Previous negative HIV tests and the adoption of risk reduction strategies diminished the perceived threat of HIV infection, supporting beliefs that HIV was something that happened to others. Depression and low self-esteem, often combined with use of alcohol or other drugs, led to further risk taking and loss of control over risk reduction strategies. A range of psychosocial reasons led some men to engage in UAI with serodiscordant or unknown partners, despite high levels of risk awareness. Men in their mid-life, those in serodiscordant relationships and men that had experienced bereavement or other significant, negative, life events revealed factors related to these circumstances that contributed to increases in risky UAI. A diverse portfolio of interventions is required to build confidence and control over safer sex practices that are responsive to gay men's wider emotional needs.

HIV and Childhood Disability: A Case-Controlled Study at a Paediatric Antiretroviral Therapy Centre in Lilongwe, Malawi

PubMed Central

Devendra, Akash; Makawa, Atupele; Kazembe, Peter N.; Calles, Nancy R.; Kuper, Hannah

2013-01-01

Background As paediatric antiretroviral therapy (ART) is rapidly scaled up in Southern Africa, Human Immunodeficiency Virus (HIV) infection is becoming a chronic illness. Children growing up with HIV may begin to encounter disabilities. The relationship between HIV, disability and the need for rehabilitation has added an additional element that needs to be addressed by paediatric HIV treatment programmes. Study Objectives 1) Estimate the prevalence of disabilities in HIV-infected and HIV-uninfected children in Lilongwe, Malawi. 2) Examine types of disability and associated clinical and socio-demographic factors. 3) Identify needs, opportunities and barriers for rehabilitation in Malawi. Methods A case-controlled study of 296 HIV-infected children aged 2–9 years attending an ART centre in Lilongwe (cases) and their uninfected siblings (controls) was conducted. Disability was assessed using the WHO Ten Question Screen (TQS). Socio-demographic and clinical data were collected using a parent-proxy questionnaire and medical records. Results Of 296 case and control pairs recruited, 33% (98) versus 7% (20) screened positive for a disability (OR 8.4, 4.4–15.7) respectively. Of these 98 HIV-infected cases, 6%, 36%, 33%, 53%, 46% and 6% had a vision, hearing; physical, learning/comprehension, speech or seizure-related disability respectively and 51% had multiple coexisting disabilities. HIV-infected cases with a disability were more likely to be WHO stage III or IV at enrolment (71% vs. 52%, OR 2.7, 1.5–4.2), to have had TB (58% vs. 39%, OR 2.3, 1.4–3.8) and to have below-average school grades (18% vs. 2%, OR 11.1, 2.2–54.6) than those without. Sixty-seven percent of cases with a disability had never attended any rehabilitative service. Twenty-nine percent of caregivers reported facing stigma and discrimination because of the child’s disability. Conclusion This study reveals the magnitude of disability among HIV-infected children and the large unmet need for rehabilitation services. This expanding issue demands further investigation to provide an evidence base for holistic care for disabled children living with HIV. PMID:24391869

Idiopathic slow transit constipation and megacolon are not associated with neurturin mutations.

PubMed

Chen, B; Knowles, C H; Scott, M; Anand, P; Williams, N S; Milbrandt, J; Tam, P K H

2002-10-01

Chronic idiopathic slow-transit constipation (ISTC) and idiopathic megacolon (IMC) are early-onset gastrointestinal motility disorders of unknown aetiology. The gene encoding the neurotrophic factor neurturin may be a candidate for these disorders, as neurturin-deficient mice have a similar enteric phenotype. In the present study, we tested this hypothesis. Genomic DNA from 26 cases of chronic idiopathic STC [with a family history of constipation in 15 (58%) and Hirschsprung's disease in two (8%)], and five cases of IMC [two familial (40%)] was screened by direct DNA sequencing using the fluorescent dideoxy terminator method. Results were compared with published sequence data and 24 control DNAs. Our results revealed several previously unreported common sequence polymorphisms, but overall frequencies were comparable between patients and controls. We conclude that mutation of neurturin is not a frequent cause of ISTC or IMC.

MTHFR Gene Polymorphism-Mutations and Air Pollution as Risk Factors for Breast Cancer

PubMed Central

Gonzales, Mildred C.; Yu, Pojui; Shiao, S. Pamela K.

2017-01-01

Background The methylenetetrahydrofolate reductase gene (MTHFR) is one of the most investigated genes associated with breast cancer for its role in epigenetic pathways. Objectives The objectives of this metaprediction study were to examine the polymorphism-mutation risk subtypes of MTHFR and air pollution as contributing factors for breast cancer. Methods For triangulation purposes in metapredictive analyses, we used a recursive partition tree, nonlinear association curve fit, and heat maps for data visualization, in addition to the conventional comparison procedure and pooled analyses. Results We included 36,683 breast cancer cases and 40,689 controls across 82 studies for MTHFR 677 and 23,252 cases and 27,094 controls across 50 studies for MTHFR 1298. MTHFR 677 TT was a risk genotype for breast cancer (p = .0004) and in the East Asian subgroup (p = .005). On global maps, the most polymorphism-mutations on MTHFR 677 TT were found in the Middle East, Europe, Asia, and the Americas, whereas the most mutations on MTHFR 1298 CC were located in Europe and the Middle East for the control group. The geographic information system maps further revealed that MTHFR 677 TT mutations yielded a higher risk of breast cancer for Australia, East Asia, the Middle East, South Europe, Morocco, and the Americas and that MTHFR 1298 CC mutations yielded a higher risk in Asia, the Middle East, South Europe, and South America. Metapredictive analysis revealed that air pollution level was significantly associated with MTHFR 677 TT polymorphism-mutation genotype. Discussion We present the most comprehensive analyses to date of MTHFR polymorphism-mutations and breast cancer risk. Future nursing studies are needed to investigate the health impact on breast cancer of epigenetics and air pollution across populations. PMID:28114181

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

Can venous ProBNP levels predict placenta accreta?

PubMed

Ersoy, Ali Ozgur; Oztas, Efser; Ozler, Sibel; Ersoy, Ebru; Erkenekli, Kudret; Uygur, Dilek; Caglar, Ali Turhan; Danisman, Nuri

2016-12-01

Placenta previa (PP) is a potential life-threatening pregnancy complication. Pro-brain natriuretic peptide (ProBNP), creatine kinase (CK), cardiac form of CK (CK-MB) and Troponin I are circulatory biomarkers related to cardiac functions. We aimed to determine whether these biomarkers are related to PP and placenta accreta. In this case-control study, fifty-four pregnant women who attended our tertiary care center for perinatology with the diagnosis of PP totalis, and of them, 14 patients with placenta accreta were recruited as the study groups. Forty-six uncomplicated control patients who were matched for age, BMI were also included. Maternal venous ProBNP, CK, CK-MB and Troponin I levels were compared between the three groups. Obstetric history characteristics were comparable among groups, generally. CK and CK-MB levels were similar among three groups. Troponin I levels in the previa and accreta groups were significantly higher than the controls. ProBNP levels in the accreta group were significantly higher than other two groups. The multivariate regression model revealed that ProBNP could predict placental adhesion anomalies. Troponin I and ProBNP levels in PP cases were higher than controls and ProBNP could predict placenta accreta.

Self discipline and obesity in Bangkok school children.

PubMed

Sirikulchayanonta, Chutima; Ratanopas, Wasoontara; Temcharoen, Paradee; Srisorrachatr, Suwat

2011-03-10

Childhood obesity has become an important public health problem in Thailand. This study aimed to determine the relationship between self discipline and obesity in Bangkok school children. A case control study was conducted. 140 cases (obese children) and 140 controls (normal weight children) were randomly chosen from grades 4-6 students in 4 Bangkok public schools. Questionnaire responses regarding general characteristics and child self-discipline were obtained from children and their parents. Self discipline in eating habits, money management and time management were reported at significantly lower levels among the obese group (p < 0.05). After controlling all other variables, it was revealed that the ranking of factors associated with obesity by adjusted odds ratio (OR) were low self-discipline in managing expenses (3.1), poor home environment (3.0,), moderate self-discipline in time management (2.9), television viewing time ≥2 hours/day (2.6), an obese father (2.2), and an obese mother (1.9). It was recommended that parents and teachers participate in child self-discipline guidance, particularly with regard to eating habits, money management and time management in a supportive environment that both facilitates prevention of obesity and simultaneously develops a child's personal control.

Self discipline and obesity in Bangkok school children

PubMed Central

2011-01-01

Background Childhood obesity has become an important public health problem in Thailand. This study aimed to determine the relationship between self discipline and obesity in Bangkok school children. Methods A case control study was conducted. 140 cases (obese children) and 140 controls (normal weight children) were randomly chosen from grades 4-6 students in 4 Bangkok public schools. Questionnaire responses regarding general characteristics and child self-discipline were obtained from children and their parents. Results Self discipline in eating habits, money management and time management were reported at significantly lower levels among the obese group (p < 0.05). After controlling all other variables, it was revealed that the ranking of factors associated with obesity by adjusted odds ratio (OR) were low self-discipline in managing expenses (3.1), poor home environment (3.0,), moderate self-discipline in time management (2.9), television viewing time ≥2 hours/day (2.6), an obese father (2.2), and an obese mother (1.9). Conclusions It was recommended that parents and teachers participate in child self-discipline guidance, particularly with regard to eating habits, money management and time management in a supportive environment that both facilitates prevention of obesity and simultaneously develops a child's personal control. PMID:21392376

Morbidity of Chagas heart disease in the microregion of Rio Negro, Amazonian Brazil: a case-control study

PubMed Central

Coura, José Rodrigues; Viñas, Pedro Albajar; Brum-Soares, Lucia Maria; de Sousa, Andréa Silvestre; Xavier, Sérgio Salles

2013-01-01

A case-control study on the morbidity of Chagas heart disease was carried out in the municipality of Barcelos in the microregion of the Rio Negro, state of Amazonas. One hundred and six individuals, who were serologically positive for Trypanosoma cruzi infection, as confirmed by at least two techniques with different principles, were matched according to age and sex with an equal number of seronegative individuals. The cases and controls were evaluated using an epidemiological questionnaire and clinical, electrocardiograph and echocardiograph examinations. In the seroepidemiological evaluation, 62% of the interviewees recognised triatomines and most of them confirmed that they had seen these insects in the piassava plantations of the riverside communities of the Negro River tributaries. Of the seropositive patients, 25.8% affirmed that they had been stung by the triatomines and 11.7% denied having been stung. The principal clinical manifestations of the seropositive individuals were palpitations, chest pain and dyspnoea upon effort. Cardiac auscultation revealed extrasystoles, bradycardia and systolic murmurs. The electrocardiographic alterations were ventricular extrasystoles, left and right bundle branch block, atrioventricular block and primary T wave alterations. The echocardiogram was altered in 22.6% of the seropositive individuals and in 8.5% of the seronegative individuals. PMID:24402153

Almost 2% of Spanish breast cancer families are associated to germline pathogenic mutations in the ATM gene.

PubMed

Tavera-Tapia, A; Pérez-Cabornero, L; Macías, J A; Ceballos, M I; Roncador, G; de la Hoya, M; Barroso, A; Felipe-Ponce, V; Serrano-Blanch, R; Hinojo, C; Miramar-Gallart, M D; Urioste, M; Caldés, T; Santillan-Garzón, S; Benitez, J; Osorio, A

2017-02-01

There is still a considerable percentage of hereditary breast and ovarian cancer (HBOC) cases not explained by BRCA1 and BRCA2 genes. In this report, next-generation sequencing (NGS) techniques were applied to identify novel variants and/or genes involved in HBOC susceptibility. Using whole exome sequencing, we identified a novel germline mutation in the moderate-risk gene ATM (c.5441delT; p.Leu1814Trpfs*14) in a family negative for mutations in BRCA1/2 (BRCAX). A case-control association study was performed to establish its prevalence in Spanish population, in a series of 1477 BRCAX families and 589 controls further screened, and NGS panels were used for ATM mutational screening in a cohort of 392 HBOC Spanish BRCAX families and 350 patients affected with diseases not related to breast cancer. Although the interrogated mutation was not prevalent in case-control association study, a comprehensive mutational analysis of the ATM gene revealed 1.78% prevalence of mutations in the ATM gene in HBOC and 1.94% in breast cancer-only BRCAX families in Spanish population, where data about ATM mutations were very limited. ATM mutation prevalence in Spanish population highlights the importance of considering ATM pathogenic variants linked to breast cancer susceptibility.

Lung cancer risk and consumption of vegetables and fruit: an evaluation based on a systematic review of epidemiological evidence from Japan.

PubMed

Wakai, Kenji; Matsuo, Keitaro; Nagata, Chisato; Mizoue, Tetsuya; Tanaka, Keitaro; Tsuji, Ichiro; Sasazuki, Shizuka; Shimazu, Taichi; Sawada, Norie; Inoue, Manami; Tsugane, Shoichiro

2011-05-01

Clinical trials of β-carotene supplementation and recent large-scale prospective studies have called into question the protective effects of vegetable and fruit consumption against lung cancer. To re-assess this issue, we reviewed data from Japanese epidemiological studies. Original data were obtained from searches of MEDLINE and the Japana Centra Revuo Medicina (Ichushi) database. The associations were assessed based on their magnitude and the strength of the evidence, together with their biological plausibility as previously evaluated by the International Agency for Research on Cancer. We identified six cohort studies and four case-control studies on the consumption of vegetables and/or fruit. We focused on fruit and green-yellow vegetables as food items, as they were included in more of the studies, and insufficient data were available on other types of vegetables. Among the three cohort and two case-control studies that reported on green-yellow vegetables, only one of each study type showed a weak inverse association between lung cancer risk and their consumption. Two of the four cohort studies and one (or possibly two) of the four case-control studies demonstrated a weak inverse correlation between lung cancer risk and fruit consumption. Meta-analysis for fruit consumption revealed a summary relative risk that was significantly smaller than unity. Our analysis of the Japanese epidemiological data showed that fruit consumption possibly decreased the risk of lung cancer, but found insufficient evidence of a link with vegetable consumption. Further prospective studies should assess the effects of consuming these food groups.

Rare coding variants in the phospholipase D3 gene confer risk for Alzheimer's disease

NASA Astrophysics Data System (ADS)

2014-01-01

Genome-wide association studies (GWAS) have identified several risk variants for late-onset Alzheimer's disease (LOAD). These common variants have replicable but small effects on LOAD risk and generally do not have obvious functional effects. Low-frequency coding variants, not detected by GWAS, are predicted to include functional variants with larger effects on risk. To identify low-frequency coding variants with large effects on LOAD risk, we carried out whole-exome sequencing (WES) in 14 large LOAD families and follow-up analyses of the candidate variants in several large LOAD case-control data sets. A rare variant in PLD3 (phospholipase D3; Val232Met) segregated with disease status in two independent families and doubled risk for Alzheimer's disease in seven independent case-control series with a total of more than 11,000 cases and controls of European descent. Gene-based burden analyses in 4,387 cases and controls of European descent and 302 African American cases and controls, with complete sequence data for PLD3, reveal that several variants in this gene increase risk for Alzheimer's disease in both populations. PLD3 is highly expressed in brain regions that are vulnerable to Alzheimer's disease pathology, including hippocampus and cortex, and is expressed at significantly lower levels in neurons from Alzheimer's disease brains compared to control brains. Overexpression of PLD3 leads to a significant decrease in intracellular amyloid-β precursor protein (APP) and extracellular Aβ42 and Aβ40 (the 42- and 40-residue isoforms of the amyloid-β peptide), and knockdown of PLD3 leads to a significant increase in extracellular Aβ42 and Aβ40. Together, our genetic and functional data indicate that carriers of PLD3 coding variants have a twofold increased risk for LOAD and that PLD3 influences APP processing. This study provides an example of how densely affected families may help to identify rare variants with large effects on risk for disease or other complex traits.

Rare coding variants in the phospholipase D3 gene confer risk for Alzheimer's disease.

PubMed

Cruchaga, Carlos; Karch, Celeste M; Jin, Sheng Chih; Benitez, Bruno A; Cai, Yefei; Guerreiro, Rita; Harari, Oscar; Norton, Joanne; Budde, John; Bertelsen, Sarah; Jeng, Amanda T; Cooper, Breanna; Skorupa, Tara; Carrell, David; Levitch, Denise; Hsu, Simon; Choi, Jiyoon; Ryten, Mina; Sassi, Celeste; Bras, Jose; Gibbs, Raphael J; Hernandez, Dena G; Lupton, Michelle K; Powell, John; Forabosco, Paola; Ridge, Perry G; Corcoran, Christopher D; Tschanz, JoAnn T; Norton, Maria C; Munger, Ronald G; Schmutz, Cameron; Leary, Maegan; Demirci, F Yesim; Bamne, Mikhil N; Wang, Xingbin; Lopez, Oscar L; Ganguli, Mary; Medway, Christopher; Turton, James; Lord, Jenny; Braae, Anne; Barber, Imelda; Brown, Kristelle; Pastor, Pau; Lorenzo-Betancor, Oswaldo; Brkanac, Zoran; Scott, Erick; Topol, Eric; Morgan, Kevin; Rogaeva, Ekaterina; Singleton, Andy; Hardy, John; Kamboh, M Ilyas; George-Hyslop, Peter St; Cairns, Nigel; Morris, John C; Kauwe, John S K; Goate, Alison M

2014-01-23

Genome-wide association studies (GWAS) have identified several risk variants for late-onset Alzheimer's disease (LOAD). These common variants have replicable but small effects on LOAD risk and generally do not have obvious functional effects. Low-frequency coding variants, not detected by GWAS, are predicted to include functional variants with larger effects on risk. To identify low-frequency coding variants with large effects on LOAD risk, we carried out whole-exome sequencing (WES) in 14 large LOAD families and follow-up analyses of the candidate variants in several large LOAD case-control data sets. A rare variant in PLD3 (phospholipase D3; Val232Met) segregated with disease status in two independent families and doubled risk for Alzheimer's disease in seven independent case-control series with a total of more than 11,000 cases and controls of European descent. Gene-based burden analyses in 4,387 cases and controls of European descent and 302 African American cases and controls, with complete sequence data for PLD3, reveal that several variants in this gene increase risk for Alzheimer's disease in both populations. PLD3 is highly expressed in brain regions that are vulnerable to Alzheimer's disease pathology, including hippocampus and cortex, and is expressed at significantly lower levels in neurons from Alzheimer's disease brains compared to control brains. Overexpression of PLD3 leads to a significant decrease in intracellular amyloid-β precursor protein (APP) and extracellular Aβ42 and Aβ40 (the 42- and 40-residue isoforms of the amyloid-β peptide), and knockdown of PLD3 leads to a significant increase in extracellular Aβ42 and Aβ40. Together, our genetic and functional data indicate that carriers of PLD3 coding variants have a twofold increased risk for LOAD and that PLD3 influences APP processing. This study provides an example of how densely affected families may help to identify rare variants with large effects on risk for disease or other complex traits.

HAIR HEAVY METAL AND ESSENTIAL TRACE ELEMENT CONCENTRATION IN CHILDREN WITH AUTISM SPECTRUM DISORDER.

PubMed

Tabatadze, T; Zhorzholiani, L; Kherkheulidze, M; Kandelaki, E; Ivanashvili, T

2015-11-01

Our study aims evaluation of level of essential trace elements and heavy metals in the hair samples of children with autistic spectrum disorder (ASD) and identification of changes that are associated with autistic spectrum disorders. Case-control study was conducted at Child Development Center of Iashvili Children's Central Hospital (LD).We studied 60 children aged from 4 to 5 years old. The concentrations of 28 elements among (Ca,Zn, K, Fe, Cu, Se, Mn, Cr, S, Br, Cl, Co, Ag, V, Ni, Rb, Mo, Sr, Ti, Ba, Pb, As, Hg, Cd, Sb, Zr, Sn, Bi) them trace elements and toxic metals) were determined in scalp hair samples of children (n=30) with autistic spectrum disorder (ASD) and from control group of healthy children (n=30) with matched sex and age. Micro-elemental status was detected in the hair, with roentgen-fluorescence spectrometer method (Method MBИ 081/12-4502-000, Apparatus ALVAX- CIP, USA - UKRAIN) .To achieve the similarity of study and control groups, pre and postnatal as well as family and social history were assessed and similar groups were selected. Children with genetic problems, malnourished children, children from families with social problems were excluded from the study. The diagnosis of ASD were performed by pediatrician and psychologist (using M-CHAT and ADOS) according to DSM IV (Diagnostic and Statistical Manual of Mental Disorders from the American Psychiatric association) criteria. The study was statistically analyzed using computer program SPSS 19. Deficiencies of essential trace microelements revealed in both group, but there was significant difference between control and studied groups. The most deficient element was zinc (92% in target and 20% in control), then - manganese (55% and 8%) and selenium (38% and 4%). In case of cooper study revealed excess concentration of this element only in target group in 50% of cases. The contaminations to heavy metals were detected in case of lead (78% and 16), mercury (43% and 10%) and cadmium (38% and 8%). The study statistical results indicated, that deficient concentrations of trace elements such as zinc, manganese, molybdenum and selenium in hair significantly linked with ASD (Kramer's V was 0,740; 0,537; 0,333; 0,417 accordingly). In case of cooper we got excess levels of this element and this data was highly linked with autism spectrum disorder. We got high associations and significant values between of lead, mercury and cadmium concentrations and ASD. Study results indicate that there are significant differences of hair essential trace elements concentrations in children with autism spectrum disorder comparing with healthy children group. The result obtained also showed high contamination to heavy metals such as lead, mercury and cadmium in ASD children compared to healthy ones. So, our study demonstrated alteration in levels of toxic heavy metals and essential trace elements in children with autistic spectrum disorders as compared to healthy children. This suggests a possible pathophysiological role of heavy metals and trace elements in the genesis of symptoms of autism spectrum disorders.

Health effects of cow's milk consumption in infants up to 3 years of age: a systematic review and meta-analysis.

PubMed

Griebler, Ursula; Bruckmüller, Melanie U; Kien, Christina; Dieminger, Birgit; Meidlinger, Bettina; Seper, Katrin; Hitthaller, Ariane; Emprechtinger, Robert; Wolf, Alexandra; Gartlehner, Gerald

2016-02-01

To summarize the best available evidence regarding the short- and long-term health effects of cow's milk intake in healthy, full-term infants up to 3 years of age. We conducted a systematic review and meta-analysis. We searched MEDLINE (via PubMed), EMBASE and the Cochrane Library between 1960 and July 2013 and manually reviewed reference lists of pertinent articles. Two researchers independently reviewed abstracts and full-text articles and extracted relevant data. We included (randomized/non-randomized) controlled trials and observational studies. We included data from twenty-three studies (one randomized controlled trial, four non-randomized controlled trials, eight case-control studies and ten cohort studies) for the evidence synthesis. Pooled results of four studies revealed a higher risk of Fe-deficiency anaemia for infants consuming cow's milk compared with those consuming follow-on formula (relative risk=3·76; 95 % CI 2·73, 5·19). For type 1 diabetes mellitus, six out of seven case-control studies did not show a difference in the risk of developing this disease based on the age of introduction of cow's milk. We did not find negative associations for other health effects. Cow's milk consumption in infancy is associated with an increased risk of developing Fe-deficiency anaemia. Limiting cow's milk consumption may be important to ensure an adequate Fe intake for infants and toddlers. High-quality patient information for caregivers is needed on how infants' Fe requirements can be met.

[Clinical symptoms and signs in Kimmerle anomaly].

PubMed

Split, Wojciech; Sawrasewicz-Rybak, Małgorzata

2002-01-01

The aim of the study was to consider Kimmerle anomaly (ponticulus posterior of the atlas) as an anatomic variant, which can cause a set of clinical symptoms and signs. A hundred and eight patients, 58 females and 50 males at the age of 18-59 years (M. 36.9 years, SD = 9.6) with radiologically verified Kimmerle anomaly were examined. A control group comprised 40 healthy subjects at the similar age range. The diagnosis of headaches was based on the criteria proposed by the IHS. A character of headaches, their localization, frequency, duration, number of days with headaches per year, circumstances associated with their onset and concomitant symptoms were evaluated. All the patients were subjected to electrophysiological studies (ENG, EEG and VEP). The results were statistically analyzed using a SPSS/PC+ computer system. It was revealed that clinical symptoms and signs in Kimmerle anomaly occurred most frequently in the third and fourth decade of life (65% of cases). These were most often tension-type headaches (50% of cases with headaches), vascular headaches (26% of cases) and neuralgia (24% of cases). Intensity of headaches was high. Headaches were accompanied by other complaints like vertigo (59% of cases) and in one third of cases--nausea. About 10% of patients also suffered from vomiting, paresthesia, dizziness, short periods of loss of consciousness. Sporadically--tinitus, drop attack, and vegetative symptoms. In cases without pain the most frequent signs were short periods of loss of consciousness, dizziness, and also nausea and dizziness. The EEG examination revealed pathology in 40% of patients with Kimmerle anomaly. The ENG examination in more than 33% of anomaly cases showed injury in the central part of vestibular system. Improper answers were reported in about 75% of the patients during the VEP examination.

Inverse Association between Glucose‒6‒Phosphate Dehydrogenase Deficiency and Hepatocellular Carcinoma

PubMed

Dore, Maria Pina; Vidili, Gianpaolo; Marras, Giuseppina; Assy, Silas; Pes, Giovanni Mario

2018-04-27

Background: Studies in experimental models and humans suggest that glucose‒6‒phosphate dehydrogenase (G6PD) deficiency, an inherited condition, may be inversely related to hepatocellular carcinoma (HCC). We tested this hypothesis in a large cohort of Sardinian patients. Methods: A case-control study was performed using data from 11,143 records of patients who underwent upper endoscopy between 2002 and 2017. Gender, age, G6PD status and information regarding the presence of HCC, were recorded. Cases (HCC positive) and controls (HCC negative) were compared for the presence of G6PD deficiency adjusting for major HCC risk factors using logistic regression. Results: Overall, 114 HCC cases and 11,029 controls were identified. G6PD deficiency was detected in 11.5% of study participants, and was associated with a reduced risk of HCC [odds ratio (OR); 0.451; 95% confidence interval (CI), 0.207−0.982] after adjusting for all covariates. Factors significantly associated with HCC were cirrhosis (OR, 23.30; 95% CI, 11.48−47.25), diabetes (OR, 2.396; 95% CI, 1.449−3.963), among infection hepatitis HBV with an OR of 2.326, age ≥65 years (OR, 1.941; 95% CI, 1.234−2.581) and male gender (OR, 1.611; 95% CI, 1.006−3.081). Conclusions: Our study revealed a significant inverse association between G6PD deficiency and risk of HCC. These findings need to be confirmed in further studies. Creative Commons Attribution License

Cancer and construction: what occupational histories in a Canadian community reveal.

PubMed

Brophy, James T; Keith, Margaret M; Gorey, Kevin M; Laukkanen, Ethan; Luginaah, Isaac; Abu-Zahra, Hakam; Watterson, Andrew E; Hellyer, Deborah J; Reinhartz, Abraham; Park, Robert M

2007-01-01

From 2000 to 2002, male patients at a Canadian cancer treatment center with new-incident head-and-neck or esophageal cancers were invited to participate in a population-based study. The study population included 87 cases and 172 controls. A lifetime-history questionnaire was administered. Odds ratios (ORs) were calculated for occupational groups with a minimum of five cases, adjusted for duration of employment, age, smoking, alcohol, education, and income. A significantly increased risk was shown for construction workers (OR = 2.20; 95% CI 1.25-3.91). This investigation of a set of rare cancers over a limited time period demonstrates the feasibility of this research approach. The increased risk among construction workers supports the need for more comprehensive study of exposures in this occupational group.

Breaking down the gut microbiome composition in multiple sclerosis.

PubMed

Budhram, Adrian; Parvathy, Seema; Kremenchutzky, Marcelo; Silverman, Michael

2017-04-01

The gut microbiome, which consists of a highly diverse ecologic community of micro-organisms, has increasingly been studied regarding its role in multiple sclerosis (MS) immunopathogenesis. This review critically examines the literature investigating the gut microbiome in MS. A comprehensive search was performed of PubMed databases and ECTRIMS meeting abstracts for literature relating to the gut microbiome in MS. Controlled studies examining the gut microbiome in patients with MS were included for review. Identified studies were predominantly case-control in their design and consistently found differences in the gut microbiome of MS patients compared to controls. We examine plausible mechanistic links between these differences and MS immunopathogenesis, and discuss the therapeutic implications of these findings. Review of the available literature reveals potential immunopathogenic links between the gut microbiome and MS, identifies avenues for therapeutic advancement, and emphasizes the need for further systematic study in this emerging field.

Coding variants in NOD-like receptors: An association study on risk and survival of colorectal cancer.

PubMed

Huhn, Stefanie; da Silva Filho, Miguel I; Sanmuganantham, Tharmila; Pichulik, Tica; Catalano, Calogerina; Pardini, Barbara; Naccarati, Alessio; Polakova-Vymetálkova, Veronika; Jiraskova, Katerina; Vodickova, Ludmila; Vodicka, Pavel; Löffler, Markus W; Courth, Lioba; Wehkamp, Jan; Din, Farhat V N; Timofeeva, Maria; Farrington, Susan M; Jansen, Lina; Hemminki, Kari; Chang-Claude, Jenny; Brenner, Hermann; Hoffmeister, Michael; Dunlop, Malcolm G; Weber, Alexander N R; Försti, Asta

2018-01-01

Nod-like receptors (NLRs) are important innate pattern recognition receptors and regulators of inflammation or play a role during development. We systematically analysed 41 non-synonymous single nucleotide polymorphisms (SNPs) in 21 NLR genes in a Czech discovery cohort of sporadic colorectal cancer (CRC) (1237 cases, 787 controls) for their association with CRC risk and survival. Five SNPs were found to be associated with CRC risk and eight with survival at 5% significance level. In a replication analysis using data of two large genome-wide association studies (GWASs) from Germany (DACHS: 1798 cases and 1810 controls) and Scotland (2210 cases and 9350 controls) the associations found in the Czech discovery set were not confirmed. However, expression analysis in human gut-related tissues and immune cells revealed that the NLRs associated with CRC risk or survival in the discovery set were expressed in primary human colon or rectum cells, CRC tissue and/or cell lines, providing preliminary evidence for a potential involvement of NLRs in general in CRC development and/or progression. Most interesting was the finding that the enigmatic development-related NLRP5 (also known as MATER) was not expressed in normal colon tissue but in colon cancer tissue and cell lines. Future studies may show whether regulatory variants instead of coding variants might affect the expression of NLRs and contribute to CRC risk and survival.

Detection of Chlamydiaceae and Chlamydia-like organisms on the ocular surface of children and adults from a trachoma-endemic region.

PubMed

Ghasemian, Ehsan; Inic-Kanada, Aleksandra; Collingro, Astrid; Tagini, Florian; Stein, Elisabeth; Alchalabi, Hadeel; Schuerer, Nadine; Keše, Darja; Babiker, Balgesa Elkheir; Borel, Nicole; Greub, Gilbert; Barisani-Asenbauer, Talin

2018-05-09

Trachoma, the leading infectious cause of blindness, is caused by Chlamydia trachomatis (Ct), a bacterium of the phylum Chlamydiae. Recent investigations revealed the existence of additional families within the phylum Chlamydiae, also termed Chlamydia-like organisms (CLOs). In this study, the frequency of Ct and CLOs was examined in the eyes of healthy Sudanese (control) participants and those with trachoma (case). We tested 96 children (54 cases and 42 controls) and 93 adults (51 cases and 42 controls) using broad-range Chlamydiae and Ct-specific (omcB) real-time PCR. Samples positive by broad-range Chlamydiae testing were subjected to DNA sequencing. Overall Chlamydiae prevalence was 36%. Sequences corresponded to unclassified and classified Chlamydiae. Ct infection rate was significantly higher in children (31.5%) compared to adults (0%) with trachoma (p < 0.0001). In general, 21.5% of adults and 4.2% of children tested positive for CLOs (p = 0.0003). Our findings are consistent with previous investigations describing the central role of Ct in trachoma among children. This is the first study examining human eyes for the presence of CLOs. We found an age-dependent distribution of CLO DNA in human eyes with significantly higher positivity in adults. Further studies are needed to understand the impact of CLOs in trachoma pathogenicity and/or protection.

Unmet refractive need and its determinants in Shahroud, Iran.

PubMed

Emamian, Mohammad Hassan; Zeraati, Hojjat; Majdzadeh, Reza; Shariati, Mohammad; Hashemi, Hassan; Fotouhi, Akbar

2012-08-01

Uncorrected refractive error plays a significant role in poor vision and blindness, and its correction is the most cost-effective intervention in eye care. In this study, we report the status of the unmet refractive need and the role of economic inequality in determining the level of this need in Shahroud, Iran. This cross-sectional nested case-control study was performed on 5,190 individuals aged 40-64 years. Cases and controls were individuals with uncorrected visual acuity worse than 0.3 LogMAR in the better eye who showed at least 0.2 LogMAR improvement after correction. Cases were individuals whose presenting vision was worse than 0.3 in the better eye but improved by at least 0.2 LogMAR after correction. Controls were individuals in whom the difference between the presenting and corrected vision was less than 0.2 LogMAR. The prevalence of the unmet need was 5.7 % and it was more prevalent in women (6.5 %) than in men (4.6 %) (p = 0.003). There was a gap of 19.6 % between the two groups of high and low economic status. The Oaxaca-Blinder decomposition method revealed that differences in the education level of the two groups accounted for half of this gap. Spectacle usage is better in Iran than in some other developing countries; however, in this study, about 40 % of those who required spectacles did not have them.

Association of NOS1 gene polymorphisms with cerebral palsy in a Han Chinese population: a case-control study.

PubMed

Yu, Ting; Xia, Lei; Bi, Dan; Wang, Yangong; Shang, Qing; Zhu, Dengna; Song, Juan; Wang, Yong; Wang, Xiaoyang; Zhu, Changlian; Xing, Qinghe

2018-06-25

Cerebral palsy (CP) is the leading cause of motor disability in children; however, its pathogenesis is unknown in most cases. Growing evidence suggests that Nitric oxide synthase 1 (NOS1) is involved in neural development and neurologic diseases. The purpose of this study was to determine whether genetic variants of NOS1 contribute to CP susceptibility in a Han Chinese population. A case-control study involving 652 CP patients and 636 healthy controls was conducted. Six SNPs in the NOS1 gene (rs3782219, rs6490121, rs2293054, rs10774909, rs3741475, and rs2682826) were selected, and the MassARRAY typing technique was applied for genotyping. Data analysis was conducted using SHEsis online software, and multiple test corrections were performed using SNPSpD online software. There were no significant differences in genotype and allele frequencies between patients and controls for the SNPs except rs6490121, which deviated from Hardy-Weinberg equilibrium and was excluded from further analyses. Subgroup analysis revealed differences in genotype frequencies between the CP with neonatal encephalopathy group (CP + NE) and control group for rs10774909, rs3741475, and rs2682826 (after SNPSpD correction, p = 0.004, 0.012, and 0.002, respectively). The T allele of NOS1 SNP rs3782219 was negatively associated with spastic quadriplegia (OR = 0.742, 95% CI = 0.600-0.918, after SNPSpD correction, p = 0.023). There were no differences in allele or genotype frequencies between CP subgroups and controls for the other genetic polymorphisms. NOS1 is associated with CP + NE and spastic quadriplegia, suggesting that NOS1 is likely involved in the pathogenesis of CP and that it is a potential therapeutic target for treatment of cerebral injury.

Consortium on the Genetics of Schizophrenia (COGS) assessment of endophenotypes for schizophrenia: an introduction to this Special Issue of Schizophrenia Research.

PubMed

Swerdlow, Neal R; Gur, Raquel E; Braff, David L

2015-04-01

The COGS is a multi-site NIMH-sponsored investigation of the genetic basis of 12 primary and multiple secondary quantitative endophenotypes in schizophrenia. Since 2003, COGS has completed studies using a family-based ascertainment strategy (COGS-1), and a case-control ascertainment strategy (COGS-2) (cumulative "n">4000). COGS-1 family study confirmed robust deficits in, and heritability of, these endophenotypes in schizophrenia, and provided evidence for a coherent genetic architecture underlying the risk for neurocognitive and neurophysiological deficits in this disorder. COGS-2 case-control findings, many reported herein, establish a foundation for fine genomic mapping and other analyses of these endophenotypes and risk genes for SZ. Several reports in this Special Issue compare findings of endophenotype deficits generated by fundamentally different COGS-1 vs. COGS-2 ascertainment strategies. Despite the expectation that family-based and case-control designs would establish demographically and potentially biologically distinct patient cohorts, findings generally revealed comparable patterns of endophenotype deficits across studies. The COGS-2 case-control design facilitated the accrual of a larger "n", permitting detailed analyses of factors moderating endophenotype performance. Some COGS-2 endophenotypes not assessed in COGS-1 are also reported, as is a new factor analytic strategy for identifying shared vs. unique factors among the COGS endophenotypes which can be used to develop composite variables with distinct genetic signatures. The path to date of COGS-1 endophenotype and genetic findings, followed by replication and extension in COGS-2, establishes benchmarks for endophenotype deficits in SZ and their moderation by specific factors, and clear expectations for informative findings from upcoming COGS-2 genetic analyses. Published by Elsevier B.V.

Use of Proton Pump Inhibitors and the Risk of Listeriosis: A Nationwide Registry-based Case-Control Study.

PubMed

Kvistholm Jensen, Anne; Simonsen, Jacob; Ethelberg, Steen

2017-04-01

Recent studies suggest that proton pump inhibitors (PPIs) may increase the risk for listeriosis. We investigated a potential association in cases of nonpregnancy-associated listeriosis using registry data. We conducted a population-based, case-control study using Danish health registries. Cases (n = 721) were defined as patients aged ≥45 years notified with listeriosis from July 1994 to December 2012. We selected 34800 controls using risk-set sampling. Controls were individually matched for age, sex, and municipality. Data on use of PPIs and other drugs and hospitalization diagnoses over a 5-year period were extracted from nationwide health registries. A comorbidity index (CMI) was constructed. We calculated the association between use of PPIs and related drugs within 30 days (current use) and other time windows before the index date. Using conditional logistic regression, matched odds ratios (ORs) adjusted for CMI and confounders were estimated. The adjusted OR for current use of PPIs and development of listeriosis was 2.81 (95% confidence interval [CI], 2.14-3.69). PPI usage up to 90 days before the index date remained statistically significant. Subgroup analyses revealed increasing ORs with decreasing age and level of comorbidity and an increased OR for concurrent glucocorticoid treatment (OR, 4.61; 95% CI, 3.01-7.06). No significant association was found for current use of histamine-2-receptor antagonists (adjusted OR, 1.82; 95% CI, 0.89-3.71). Prescribed PPIs were associated with increased risk of listeriosis. The risk waned with time since last prescription redemption. PPIs may have unwanted side effects in vulnerable populations. © The Author 2016. Published by Oxford University Press for the Infectious Diseases Society of America. All rights reserved. For permissions, e-mail: journals.permissions@oup.com.

[Phenotype of patients with gynecomastia].

PubMed

Czajka-Oraniec, Izabella; Zgliczyński, Wojciech

2008-01-01

Gynecomastia, a benign enlargement of the breast glandular tissue in men. The aim of the study was to evaluate the phenotype of patients with gynecomastia, in particular antropometric assessment, breast ultrasound examination and hormonal testing, as well as to estimate possible causes of gynecomastia in studied population. Two hundred-twenty men were enrolled in the study: 126 patients with gynecomastia and 94 healthy volunteers as a control group. Detailed medical examination, breast ultrasound and hormonal assays for T, E2, LH, FSH, SHBG, S-DHEA, PRL and TSH were performed. Calculation of free testosterone concentration was done. The results of clinical and hormonal evaluation enabled to divide the cases into three groups: patients with idiopathic gynecomastia (58 subjects, 46%), with hypogonadism (34 subjects, 27%) and drug-induced or associated with other disorders gynecomastia (34 subjects, 27%). We found that men with gynecomastia, particularly associated with hypogonadism, had significantly higher BMI compared with control group. Ultrasound examination revealed the positive correlation between breast tissue volume and BMI, duration of gynecomastia and estradiol level, while negative correlation with testosterone level. We demonstrated significant differences in LH, T, SHBG, fT and S-DHEA levels between cases and controls. There were no differences in PRL, FSH and TSH levels among groups. Significant elevation of SHBG concentration in all groups of patients, including idiopathic gynecomastia cases, compared with controls, was remarkable. Clinical evaluation and hormonal profile can help to classify patient with gynecomastia into one of three groups: idiopathic gynecomastia, associated with hypogonadism, and drug-induced or associated with other diseases. Idiopathic gynecomastia - of unknown etiology is diagnosed in almost half of all cases (46%). We showed that apart from well known hormonal disturbances leading to gynecomastia, like hypogonadism or hyperestrogenism, also subtle hormonal alterations, such as sex hormone binding globuline (SHBG) level elevation may contribute to breast enlargement.

FTO Is Associated with Aortic Valve Stenosis in a Gender Specific Manner of Heterozygote Advantage: A Population-Based Case-Control Study.

PubMed

Thron, Cindy; Akhyari, Payam; Godehardt, Erhard; Lichtenberg, Artur; Rüther, Ulrich; Seehaus, Stefanie

2015-01-01

Single nucleotide polymorphisms (SNPs) within the Fat mass and obesity associated (FTO) gene have been linked with increased body weight. However, the data on an association of FTO with cardiovascular diseases remains conflicting. Therefore, we ascertained whether FTO is associated with aortic valve stenosis (AVS), one of the most frequent cardiovascular diseases in the Western world. In this population-based case-control study the FTO SNP rs9939609 was analyzed in 300 German patients with AVS and 429 German controls of the KORA survey S4, representing a random population. Blood samples were collected prior to aortic valve replacement in AVS cases and FTO rs9939609 was genotyped via ARMS-PCR. Genotype frequencies differed significantly between AVS cases and KORA controls (p = 0.004). Separate gender-analyses uncovered an association of FTO with AVS exclusively in males; homozygote carriers for the risk-allele (A) had a higher risk to develop AVS (p = 0.017, odds ratio (OR) 1.727; 95% confidence interval (CI) 1.087-2.747, recessive model), whereas heterozygote carriers for the risk-allele showed a lower risk (p = 0.002, OR 0.565, 95% CI 0.384-0.828, overdominant model). After adjustment for multiple co-variables, the odds ratios of heterozygotes remained significant for an association with AVS (p = 0.008, OR 0.565, 95% CI 0.369-0.861). This study revealed an association of FTO rs9939609 with AVS. Furthermore, this association was restricted to men, with heterozygotes having a significantly lower chance to develop AVS. Lastly, the association between FTO and AVS was independent of BMI and other variables such as diabetes mellitus.

Interleukin 12B (IL12B) Genetic Variation and Pulmonary Tuberculosis: A Study of Cohorts from The Gambia, Guinea-Bissau, United States and Argentina

PubMed Central

Hill, Philip C.; Wejse, Christian; Bisseye, Cyrille; Olesen, Rikke; Edwards, Todd L.; Gilbert, John R.; Myers, Jamie L.; Stryjewski, Martin E.; Abbate, Eduardo; Estevan, Rosa; Hamilton, Carol D.; Tacconelli, Alessandra; Novelli, Giuseppe; Brunetti, Ercole; Aaby, Peter; Sodemann, Morten; Østergaard, Lars; Adegbola, Richard; Williams, Scott M.; Scott, William K.; Sirugo, Giorgio

2011-01-01

We examined whether polymorphisms in interleukin-12B (IL12B) associate with susceptibility to pulmonary tuberculosis (PTB) in two West African populations (from The Gambia and Guinea-Bissau) and in two independent populations from North and South America. Nine polymorphisms (seven SNPs, one insertion/deletion, one microsatellite) were analyzed in 321 PTB cases and 346 controls from Guinea-Bissau and 280 PTB cases and 286 controls from The Gambia. For replication we studied 281 case and 179 control African-American samples and 221 cases and 144 controls of European ancestry from the US and Argentina. First-stage single locus analyses revealed signals of association at IL12B 3′ UTR SNP rs3212227 (unadjusted allelic p = 0.04; additive genotypic p = 0.05, OR = 0.78, 95% CI [0.61–0.99]) in Guinea-Bissau and rs11574790 (unadjusted allelic p = 0.05; additive genotypic p = 0.05, OR = 0.76, 95% CI [0.58–1.00]) in The Gambia. Association of rs3212227 was then replicated in African-Americans (rs3212227 allelic p = 0.002; additive genotypic p = 0.05, OR = 0.78, 95% CI [0.61–1.00]); most importantly, in the African-American cohort, multiple significant signals of association (seven of the nine polymorphisms tested) were detected throughout the gene. These data suggest that genetic variation in IL12B, a highly relevant candidate gene, is a risk factor for PTB in populations of African ancestry, although further studies will be required to confirm this association and identify the precise mechanism underlying it. PMID:21339808

FTO Is Associated with Aortic Valve Stenosis in a Gender Specific Manner of Heterozygote Advantage: A Population-Based Case-Control Study

PubMed Central

Thron, Cindy; Akhyari, Payam; Godehardt, Erhard; Lichtenberg, Artur; Rüther, Ulrich; Seehaus, Stefanie

2015-01-01

Background Single nucleotide polymorphisms (SNPs) within the Fat mass and obesity associated (FTO) gene have been linked with increased body weight. However, the data on an association of FTO with cardiovascular diseases remains conflicting. Therefore, we ascertained whether FTO is associated with aortic valve stenosis (AVS), one of the most frequent cardiovascular diseases in the Western world. Methods and Findings In this population-based case-control study the FTO SNP rs9939609 was analyzed in 300 German patients with AVS and 429 German controls of the KORA survey S4, representing a random population. Blood samples were collected prior to aortic valve replacement in AVS cases and FTO rs9939609 was genotyped via ARMS-PCR. Genotype frequencies differed significantly between AVS cases and KORA controls (p = 0.004). Separate gender-analyses uncovered an association of FTO with AVS exclusively in males; homozygote carriers for the risk-allele (A) had a higher risk to develop AVS (p = 0.017, odds ratio (OR) 1.727; 95% confidence interval (CI) 1.087–2.747, recessive model), whereas heterozygote carriers for the risk-allele showed a lower risk (p = 0.002, OR 0.565, 95% CI 0.384–0.828, overdominant model). After adjustment for multiple co-variables, the odds ratios of heterozygotes remained significant for an association with AVS (p = 0.008, OR 0.565, 95% CI 0.369–0.861). Conclusions This study revealed an association of FTO rs9939609 with AVS. Furthermore, this association was restricted to men, with heterozygotes having a significantly lower chance to develop AVS. Lastly, the association between FTO and AVS was independent of BMI and other variables such as diabetes mellitus. PMID:26431034

When repetitive mental sets increase cognitive flexibility in adolescent obsessive-compulsive disorder.

PubMed

Wolff, Nicole; Giller, Franziska; Buse, Judith; Roessner, Veit; Beste, Christian

2018-03-30

A major facet of obsessive-compulsive disorder (OCD) is cognitive inflexibility. However, sometimes, cognitive flexibility can be needed to reuse recently abandoned mental sets. Therefore, cognitive flexibility can in certain cases be useful to reinstate some form of rigid, repetitive behavior characterizing OCD. We test the counterintuitive hypothesis that under such circumstances, cognitive flexibility is better in OCD patients than controls. We examined N = 20 adolescent OCD patients and N = 22 controls in a backward inhibition (BI) paradigm. This was combined with event-related potential (ERP) recordings and source localization. The BI effect describes the cost of overcoming the inhibition of a recently abandoned mental set that is relevant again. Therefore, a strong BI effect is disadvantageous for cognitive flexibility. Compared to controls, OCD patients revealed a smaller backward inhibition effect. The EEG data revealed larger P1 amplitudes in backward inhibition trials in the OCD group, which was due to activation differences in the inferior frontal gyrus (BA47). The severity of clinical symptoms predicted these neurophysiological modulations. The power of the observed effects was about 95%. The study shows that cognitive flexibility can be better in OCD than controls. This may be the case in situations where superior abilities in the reactivation of repeating mental sets and difficulties to process new ones coincide. This may be accomplished by intensified inhibitory control mechanisms. The results challenge the view on OCD, since OCD is not generally associated with cognitive inflexibility. © 2018 Association for Child and Adolescent Mental Health.

Can a rapid measure of self-exposure to drugs of abuse provide dimensional information on depression comorbidity?

PubMed

Butelman, Eduardo Roque; Bacciardi, Silvia; Maremmani, Angelo Giovanni Icro; Darst-Campbell, Maya; Correa da Rosa, Joel; Kreek, Mary Jeanne

2017-09-01

Addictions to heroin or to cocaine are associated with substantial psychiatric comorbidity, including depression. Poly-drug self-exposure (eg, to heroin, cocaine, cannabis, or alcohol) is also common, and may further affect depression comorbidity. This case-control study examined the relationship of exposure to the above drugs and depression comorbidity. Participants were recruited from methadone maintenance clinics, and from the community. Adult male and female participants (n = 1,201) were ascertained consecutively by experienced licensed clinicians. The instruments used were the SCID-I, and Kreek-McHugh-Schluger-Kellogg (KMSK) scales, which provide a rapid dimensional measure of maximal lifetime self-exposure to each of the above drugs. This measure ranges from no exposure to high unit dose, high frequency, and long duration of exposure. A multiple logistic regression with stepwise variable selection revealed that increasing exposure to heroin or to cocaine was associated greater odds of depression, with all cases and controls combined. In cases with an opioid dependence diagnosis, increasing cocaine exposure was associated with a further increase in odds of depression. However, in cases with a cocaine dependence diagnosis, increasing exposure to either cannabis or alcohol, as well as heroin, was associated with a further increase in odds of depression. This dimensional analysis of exposure to specific drugs provides insights on depression comorbidity with addictive diseases, and the impact of poly-drug exposure. A rapid analysis of exposure to drugs of abuse reveals how specific patterns of drug and poly-drug exposure are associated with increasing odds of depression. This approach detected quantitatively how different patterns of poly-drug exposure can result in increased odds of depression comorbidity, in cases diagnosed with opioid versus cocaine dependence. (Am J Addict 2017;26:632-639). © 2017 American Academy of Addiction Psychiatry.

Moderate physical activity of music aerobic exercise increases lymphocyte counts, specific subsets, and differentiation.

PubMed

Yeh, Shu-Hui; Lai, Hsiu-Ling; Hsiao, Chiu-Yueh; Lin, Li-Wei; Chuang, Yu-Kuan; Yang, Yu-Yeng; Yang, Kuender D

2014-09-01

Moderate physical activity has been shown to promote immunity. Different moderate physical activities may have different effects on immunity. This study investigated the impacts of a 12-week regular music aerobic exercise (MAE) program on leukocyte distribution, lymphocyte subsets, and lymphocyte polarization. The study used a case-control design with pretest and posttest. Forty-seven middle-age women were recruited for this study. Three participants dropped out, 22 completed the 12-week MAE program, and the other 22 participants who had heat-intolerance or limited schedule eligibility were enrolled as the control group without the MAE exercise. Results showed that the MAE exercise for 12 weeks didn't change red blood cells or total leukocytes but increased lymphocyte counts. The women in MAE group revealed significant increases (P ≤ 0.01) of CD3CD4, CD3CD8, and CD4CD25 cells, associated with Treg polarization showing enhanced FoxP3 but not T-bet, Gata-3, or RORγT expression (P < .01). The control group without exercise revealed insignificant change of lymphocyte subsets or lymphocyte polarization. This study shows that MAE increases specific lymphocyte subsets and enhances Treg cell differentiation. It is suggested to encourage moderate physical activity of music aerobic exercise to enhance lymphocyte function of middle-aged women.

Force Sensing Resistor (FSR): a brief overview and the low-cost sensor for active compliance control

NASA Astrophysics Data System (ADS)

Sadun, A. S.; Jalani, J.; Sukor, J. A.

2016-07-01

Force Sensing Resistors (FSR) sensors are devices that allow measuring static and dynamic forces applied to a contact surface. Their range of responses is basically depending on the variation of its electric resistance. In general, Flexiforce and Interlink are two common types of FSR sensors that are available, cheap and easily found in the market. Studies have shown that the FSR sensors are usually applied for robotic grippers and for biomechanical fields. This paper provides a brief overview of the application of the FSR sensors. Subsequently, two different set of experiments are carried out to test the effectiveness of the Flexiforce and Interlink sensors. First, the hardness detector system (Case Study A) and second, the force-position control system (Case Study B). The hardware used for the experiment was developed from low-cost materials. The results revealed that both FSR sensors are sufficient and reliable to provide a good sensing modality particularly for measuring force. Apart from the low-cost sensors, essentially, the FSR sensors are very useful devices that able to provide a good active compliance control, particularly for the grasping robotic hand.

Cutaneous metastasis revealing a relapse of gastric linitis: Another case.

PubMed

Kairouani, Mouna; Perrin, Julie; Dietemann-Barabinot, Anne; Diab, Rafiq; Ruck, Stephane

2013-01-01

Cutaneous metastasis from gastric cancer is a rare occurrence. The linitis gastric carcinoma accounts only 8.7% of all gastric cancers. We report a case of female patient who was followed for linits cancer with peritoneal metastasis treated by six cycles of chemotherapy. After seventeen months of control, the relapse of the disease revealed by occurrence of cutaneous metastatsis. Cutaneous metastasis from linit gastric is rare and the prognostic remains poor. The treatment is palliative. This rare presentation should encourage the practitioners to biopsy any suspicion skin lesion. Copyright © 2012 Surgical Associates Ltd. Published by Elsevier Ltd. All rights reserved.

Sudden unexpected death related to enterovirus myocarditis: histopathology, immunohistochemistry and molecular pathology diagnosis at post-mortem

PubMed Central

2012-01-01

Background Viral myocarditis is a major cause of sudden unexpected death in children and young adults. Until recently, coxsackievirus B3 (CVB3) has been the most commonly implicated virus in myocarditis. At present, no standard diagnosis is generally accepted due to the insensitivity of traditional diagnostic tests. This has prompted health professionals to seek new diagnostic approaches, which resulted in the emergence of new molecular pathological tests and a more detailed immunohistochemical and histopathological analysis. When supplemented with immunohistochemistry and molecular pathology, conventional histopathology may provide important clues regarding myocarditis underlying etiology. Methods This study is based on post-mortem samples from sudden unexpected death victims and controls who were investigated prospectively. Immunohistochemical investigations for the detection of the enteroviral capsid protein VP1 and the characterization and quantification of myocardial inflammatory reactions as well as molecular pathological methods for enteroviral genome detection were performed. Results Overall, 48 sudden unexpected death victims were enrolled. As for controls, 37 cases of unnatural traffic accident victims were studied. Enterovirus was detected in 6 sudden unexpected death cases (12.5 %). The control samples were completely enterovirus negative. Furthermore, the enteroviral capsid protein VP1 in the myocardium was detected in enterovirus-positive cases revealed by means of reverse transcriptase-polymerase chain reaction (RT-PCR). Unlike control samples, immunohistochemical investigations showed a significant presence of T and B lymphocytes in sudden unexpected death victims. Conclusions Our findings demonstrate clearly a higher prevalence of viral myocarditis in cases of sudden unexpected death compared to control subjects, suggesting that coxsackie B enterovirus may contribute to myocarditis pathogenesis significantly. PMID:22966951

The CAG repeat polymorphism in the Androgen receptor gene modifies the risk for hypospadias in Caucasians

PubMed Central

2012-01-01

Background Hypospadias is a birth defect of the urethra in males, and a milder form of 46,XY disorder of sexual development (DSD). The disease is characterized by a ventrally placed urinary opening due to a premature fetal arrest of the urethra development. Moreover, the Androgen receptor (AR) gene has an essential role in the hormone-dependent stage of sexual development. In addition, longer AR polyglutamine repeat lengths encoded by CAG repeats are associated with lower transcriptional activity in vitro. In the present study, we aimed at investigating the role of the CAG repeat length in the AR gene in hypospadias cases as compared to the controls. Our study included 211 hypospadias and 208 controls of Caucasian origin. Methods We amplified the CAG repeat region with PCR, and calculated the difference in the mean CAG repeat length between the hypospadias and control group using the T-test for independent groups. Results We detected a significant increase of the CAG repeat length in the hypospadias cases when compared to the controls (contrast estimate: 2.29, 95% Confidence Interval (1.73-2.84); p-value: 0.001). In addition, the odds ratios between the hypospadias and controls revealed that the hypospadias cases are two to 3 times as likely to have longer CAG repeats than a shorter length for each repeat length investigated. Conclusions We have investigated the largest number of hypospadias cases with regards to the CAG repeat length, and we provide evidence that a higher number of the CAG repeat sequence in the AR gene have a clear effect on the risk of hypospadias in Caucasians. PMID:23167717

Relationship between female sexual difficulties and mental health in patients referred to two public and private settings in Tehran, Iran.

PubMed

Azar, Mahyar; Noohi, Sima; Shafiee Kandjani, Ali Reza

2007-09-01

Sexual difficulty has various effects on patients suffering from this condition that can impact on interpersonal and marital relationships. Sexual function may be adversely affected by stress of any kind and emotional disorders. There have been limited studies focusing on the mental health of those suffering from this problem. To determine the relationship between sexual difficulties and mental health in female patients seeking help in psychiatric clinics. The study was based on the case-control design methodology in which the case group consisted of 165 outpatients of two psychiatric clinics, who were diagnosed with different mental disorders such as depression, anxiety, phobia, aggression, and somatic complaints (33 subjects for each type of disorder). The 33 subjects in the control group were chosen among the patients' relatives and visitors who had no history of either seeking psychiatric help or taking psychiatric drugs. The subjects of both case and control groups were selected based on a convenience sampling method. Moreover, the data were collected based on two techniques of "interview" and "questionnaire;" the latter was of three different subcategories, each dealt with demographic characteristics, sexual difficulties, and a Symptom Check-List-90-Revised. Assessing female sexual difficulties associated with mental health and differences between women with and without psychiatric problems. The obtained results indicated that there was a significant difference between the prevalence of sexual difficulties (e.g., sexual desire and orgasm disorders) in the case group and that of the control group. It was also revealed that there was a significant difference between the depressed, aggressive, as well as those with somatic complaints, and their control group counterparts. In Iran, sexual difficulties seem to be more frequent in those seeking psychiatric help in clinics than in those within the normal population.

Specific and Non-specific Clinical Presentations in the Year Before the Diagnosis of Childhood Leukaemia.

PubMed

Yang, TienYu Owen; Liu, Yen-Lin; Huang, Wan-Ting; Chen, Mei-Huei; Chen, Pau-Chung

2016-08-01

Clinical presentations of childhood leukaemia have been reported in case-only studies. The timing when these presentations start to occur prior to diagnosis is less clear. In this nested case-control study, 1,025 and 334 children with lymphoid and myeloid leukaemia, respectively, were matched (1:30) to population-based controls by sex, region and year of birth. An index date was assigned for each control when the matched case was diagnosed. Healthcare access records of cases and controls in the year before the index date were extracted. Children with lymphoid leukaemia started to visit doctors more often at least 2 months before leukaemia diagnosis (P < 0.05). Various presentations were recorded in these visits: rates of haematological presentations, musculoskeletal presentations, and injuries started to increase significantly at least 3 months before diagnosis; rates of respiratory, gastrointestinal and urinary tract presentations did not increase significantly until the last month. The findings for myeloid lymphoma were less clear, but children appeared to visit doctors more often at least 4 months before diagnosis, and the rate of haematological presentations also started to increase at least 4 months before leukaemia diagnosis. Although haematological presentations were most strongly associated with undiagnosed leukaemia (odds ratio > 290 in the last month), the majority (>96%) of children with haematological presentations did not have leukaemia if they had not been diagnosed in their first visit. We described a clinical picture in the year before leukaemia diagnosis. These findings revealed ongoing difficulties in early diagnosis of childhood leukaemia in healthcare settings. © 2016 Wiley Periodicals, Inc.

Recurrent Vulvovaginal Candidiasis: Could It Be Related to Cell-Mediated Immunity Defect in Response to Candida Antigen?

PubMed Central

Talaei, Zahra; Sheikhbahaei, Saba; Ostadi, Vajihe; Ganjalikhani Hakemi, Mazdak; Meidani, Mohsen; Naghshineh, Elham; Yaran, Majid; Naeini, Alireza Emami; Sherkat, Roya

2017-01-01

Background Recurrent vulvovaginal candidiasis (RVVC) is a common cause of morbidity affecting millions of women worldwide. Patients with RVVC are thought to have an underlying immunologic defect. This study has been established to evaluate cell-mediated immunity defect in response to candida antigen in RVVC cases. Materials and Methods Our cross-sectional study was performed in 3 groups of RVVC patients (cases), healthy individuals (control I) and known cases of chronic mucocutaneous candidiasis (CMC) (control II). Patients who met the inclusion criteria of RVVC were selected consecutively and were allocated in the case group. Peripheral blood mononuclear cells were isolated and labeled with CFSE and proliferation rate was measured in exposure to candida antigen via flow cytometry. Results T lymphocyte proliferation in response to candida was significantly lower in RVVC cases (n=24) and CMC patients (n=7) compared to healthy individuals (n=20, P<0.001), but no statistically significant difference was seen between cases and control II group (P>0.05). Family history of primary immunodeficiency diseases (PID) differed significantly among groups (P=0.01), RVVC patients has family history of PID more than control I (29.2 vs. 0%, P=0.008) but not statistically different from CMC patients (29.2 vs. 42.9%, P>0.05). Prevalence of atopy was greater in RVVC cases compared to healthy individuals (41.3 vs. 15%, P=0.054). Lymphoproliferative activity and vaginal symptoms were significantly different among RVVC cases with and without allergy (P=0.01, P=0.02). Conclusion Our findings revealed that T cells do not actively proliferate in response to Candida antigen in some RVVC cases. So it is concluded that patients with cell-mediated immunity defect are more susceptible to recurrent fungal infections of vulva and vagina. Nonetheless, some other cases of RVVC showed normal function of T cells. Further evaluations showed that these patients suffer from atopy. It is hypothesized that higher frequency of VVC in patients with history of atopy might be due to allergic response in mucocutaneous membranes rather than a functional impairment in immune system components. PMID:28868834

The Relationship Between the Serum Level of Vitamin D and Vitiligo: A Controlled Study on 300 Subjects.

PubMed

Khurrum, Huma; AlGhamdi, Khalid M

2016-01-01

Low vitamin D levels have been associated with several autoimmune diseases. Vitiligo could be associated with low vitamin D levels. To determine the level of serum vitamin D in vitiligo patients compared to controls and reveal the possible association of vitamin levels with the pathogenesis of vitiligo. A case-controlled study was conducted. After excluding factors that may affect serum vitamin D levels, blood samples were taken from vitiligo patients and controls. The association between vitamin D levels and various vitiligo subgroups (duration of vitiligo, site of onset, age, etc) was measured and correlated. A total of 150 vitiligo patients, 90 (60%) males with a mean age of 30.6 ± 11.4 years, were recruited. The study also had 150 age- and gender-matched vitiligo-free control subjects. There was no significant difference in median serum vitamin D levels between the cases and the controls (P = .25). The serum levels of vitamin D of the vitiligo patients were found to be lower in males (P = .01), the younger age group (P = .01), and patients not treated with ultraviolet (UV) treatment (P = .01). There is no difference between the vitamin D levels of the vitiligo patients and the control subjects. However, deficiency of 25(OH)D levels within the vitiligo subgroups may be linked to younger age, male gender, short duration of vitiligo, and non-use of phototherapy. © The Author(s) 2015.

A Comparison of the Hot Spot and the Average Cancer Cell Counting Methods and the Optimal Cutoff Point of the Ki-67 Index for Luminal Type Breast Cancer.

PubMed

Arima, Nobuyuki; Nishimura, Reiki; Osako, Tomofumi; Nishiyama, Yasuyuki; Fujisue, Mamiko; Okumura, Yasuhiro; Nakano, Masahiro; Tashima, Rumiko; Toyozumi, Yasuo

2016-01-01

In this case-control study, we investigated the most suitable cell counting area and the optimal cutoff point of the Ki-67 index. Thirty recurrent cases were selected among hormone receptor (HR)-positive/HER2-negative breast cancer patients. As controls, 90 nonrecurrent cases were randomly selected by allotting 3 controls to each recurrent case based on the following criteria: age, nodal status, tumor size, and adjuvant endocrine therapy alone. Both the hot spot and the average area of the tumor were evaluated on a Ki-67 immunostaining slide. The median Ki-67 index value at the hot spot and average area were 25.0 and 14.5%, respectively. Irrespective of the area counted, the Ki-67 index value was significantly higher in all of the recurrent cases (p < 0.0001). The multivariate analysis revealed that the Ki-67 index value of 20% at the hot spot was the most suitable cutoff point for predicting recurrence. Moreover, higher x0394;Ki-67 index value (the difference between the hot spot and the average area, ≥10%) and lower progesterone receptor expression (<20%) were significantly correlated with recurrence. A higher Ki-67 index value at the hot spot strongly correlated with recurrence, and the optimal cutoff point was found to be 20%. © 2015 S. Karger AG, Basel.

Factors predisposing to early childhood caries (ECC) in children of pre-school age in the city of Zagreb, Croatia.

PubMed

Lulić-Dukić, O; Jurić, H; Dukić, W; Glavina, D

2001-06-01

The aim of this study was to investigate factors predisposing to early childhood caries (ECC) in pre-school children in the city of Zagreb, Croatia. The investigation was carried out on the sample of 145 children (77 boys and 68 girls) aged between 2 and 5 years, including clinical examination of dental status and survey on the habits among the parents. The overall prevalence of ECC was 30%: in girls it was 25%, and in boys 48%. The study on the risk factors was designed as a classic case-control study. The mean value of dmfs index among the cases amounted to 8.6, in comparison to 5.2 in the control group (p<0.05). Bottle-feeding did not represent a significant risk, but night consumption of sweet beverages after first 24 months and the lack of introduction of teeth-brushing habit after first 24 months did (p < 0.001 for both predictors). The study revealed the importance of early introduction of teeth-brushing and giving up the nightly consumption of sweet beverages in prevention of ECC.

Comparative Study of Regulatory Circuits in Two Sea Urchin Species Reveals Tight Control of Timing and High Conservation of Expression Dynamics

PubMed Central

Gildor, Tsvia; Ben-Tabou de-Leon, Smadar

2015-01-01

Accurate temporal control of gene expression is essential for normal development and must be robust to natural genetic and environmental variation. Studying gene expression variation within and between related species can delineate the level of expression variability that development can tolerate. Here we exploit the comprehensive model of sea urchin gene regulatory networks and generate high-density expression profiles of key regulatory genes of the Mediterranean sea urchin, Paracentrotus lividus (Pl). The high resolution of our studies reveals highly reproducible gene initiation times that have lower variation than those of maximal mRNA levels between different individuals of the same species. This observation supports a threshold behavior of gene activation that is less sensitive to input concentrations. We then compare Mediterranean sea urchin gene expression profiles to those of its Pacific Ocean relative, Strongylocentrotus purpuratus (Sp). These species shared a common ancestor about 40 million years ago and show highly similar embryonic morphologies. Our comparative analyses of five regulatory circuits operating in different embryonic territories reveal a high conservation of the temporal order of gene activation but also some cases of divergence. A linear ratio of 1.3-fold between gene initiation times in Pl and Sp is partially explained by scaling of the developmental rates with temperature. Scaling the developmental rates according to the estimated Sp-Pl ratio and normalizing the expression levels reveals a striking conservation of relative dynamics of gene expression between the species. Overall, our findings demonstrate the ability of biological developmental systems to tightly control the timing of gene activation and relative dynamics and overcome expression noise induced by genetic variation and growth conditions. PMID:26230518

An H(∞) control approach to robust learning of feedforward neural networks.

PubMed

Jing, Xingjian

2011-09-01

A novel H(∞) robust control approach is proposed in this study to deal with the learning problems of feedforward neural networks (FNNs). The analysis and design of a desired weight update law for the FNN is transformed into a robust controller design problem for a discrete dynamic system in terms of the estimation error. The drawbacks of some existing learning algorithms can therefore be revealed, especially for the case that the output data is fast changing with respect to the input or the output data is corrupted by noise. Based on this approach, the optimal learning parameters can be found by utilizing the linear matrix inequality (LMI) optimization techniques to achieve a predefined H(∞) "noise" attenuation level. Several existing BP-type algorithms are shown to be special cases of the new H(∞)-learning algorithm. Theoretical analysis and several examples are provided to show the advantages of the new method. Copyright © 2011 Elsevier Ltd. All rights reserved.

Case-crossover study of Burkholderia cepacia complex bloodstream infection associated with contaminated intravenous bromopride.

PubMed

Martins, Ianick Souto; Pellegrino, Flávia Lúcia Piffano Costa; Freitas, Andrea d'Avila; Santos, Marisa da Silva; Ferraiuoli, Giovanna Ianini d'Alemeida; Vasques, Márcia Regina Guimarães; Amorim, Efigenia Lourdes Teixeira; Oliveira, Sandra; Nouér, Simone Aranha; Cardoso, Fernando Luiz Lopes; Mascarenhas, Luiz Affonso; Magalhães, Ana Cristina Gouveia; Cleinman, Isabella Barbosa; Figueiredo, Agnes Marie Sá; Moreira, Beatriz Meurer

2010-05-01

To investigate an outbreak of healthcare-associated Burkholderia cepacia complex (BCC) primary bloodstream infections (BCC-BSI). Case-crossover study in a public hospital, a university hospital and a private hospital in Rio de Janeiro, Brazil, from March 2006 to May 2006. Twenty-five patients with BCC-BSI. After determining the date BCC-BSI symptoms started for each patient, 3 time intervals of data collection were defined, each one with a duration of 3 days: the case period, starting just before BCC-BSI symptoms onset; the control period, starting 6 days before BCC-BSI symptoms onset; and the washout period, comprising the 3 days between the case period and the control period. Exposures evaluated were intravascular solutions and invasive devices and procedures. Potential risk factors were identified by using the McNemar chi(2) adjusted test. Cultures of samples of potentially contaminated solutions were performed. BCC strain typing was performed by pulsed-field gel electrophoresis using SpeI. The statistical analysis revealed that the use of bromopride and dipyrone was associated with BCC-BSI. A total of 21 clinical isolates from 17 (68%) of the 25 patients and an isolate obtained from the bromopride vial were available for strain typing. Six pulsotypes were detected. A predominant pulsotype (A) accounted for 11 isolates obtained from 11 patients (65%) in the 3 study hospitals. Our investigation, using a case-crossover design, of an outbreak of BCC-BSI infections concluded it was polyclonal but likely caused by infusion of contaminated bromopride. The epidemiological finding was validated by microbiological analysis. After recall of contaminated bromopride vials by the manufacturer, the outbreak was controlled.

Maternal occupational pesticide exposure and risk of congenital heart defects in the National Birth Defects Prevention Study.

PubMed

Rocheleau, Carissa M; Bertke, Stephen J; Lawson, Christina C; Romitti, Paul A; Sanderson, Wayne T; Malik, Sadia; Lupo, Philip J; Desrosiers, Tania A; Bell, Erin; Druschel, Charlotte; Correa, Adolfo; Reefhuis, Jennita

2015-10-01

Congenital heart defects (CHDs) are common birth defects, affecting approximately 1% of live births. Pesticide exposure has been suggested as an etiologic factor for CHDs, but previous results were inconsistent. We examined maternal occupational exposure to fungicides, insecticides, and herbicides for 3328 infants with CHDs and 2988 unaffected control infants of employed mothers using data for 1997 through 2002 births from the National Birth Defects Prevention Study, a population-based multisite case-control study. Potential pesticide exposure from 1 month before conception through the first trimester of pregnancy was assigned by an expert-guided task-exposure matrix and job history details self-reported by mothers. Odds ratios (ORs) and 95% confidence intervals (CIs) were estimated using multivariable logistic regression. Maternal occupational exposure to pesticides was not associated with CHDs overall. In examining specific CHD subtypes compared with controls, some novel associations were observed with higher estimated pesticide exposure: insecticides only and secundum atrial septal defect (OR = 1.8; 95% CI, 1.3-2.7, 40 exposed cases); both insecticides and herbicides and hypoplastic left heart syndrome (OR = 5.1; 95% CI, 1.7-15.3, 4 exposed cases), as well as pulmonary valve stenosis (OR = 3.6; 95% CI, 1.3-10.1, 5 exposed cases); and insecticides, herbicides, and fungicides and tetralogy of Fallot (TOF) (OR = 2.2; 95% CI, 1.2-4.0, 13 exposed cases). Broad pesticide exposure categories were not associated with CHDs overall, but examining specific CHD subtypes revealed some increased odds ratios. These results highlight the importance of examining specific CHDs separately. Because of multiple comparisons, additional work is needed to verify these associations. © 2014 Wiley Periodicals, Inc.

EFFECTS OF HOME-CARE TRAINING ON THE SELF-EFFICACY OF PATIENTS WITH BETA THALASSEMIA MAJOR

PubMed Central

Moghadam, Mahdieh Poodineh; Nourisancho, Hajar; Shahdadi, Hossein; Shahraki, Sohila; Azarkish, Batoul; Balouchi, Abbas

2016-01-01

Background: The self-efficacy of thalassemia patients is an important factor in creating behavioral changes in such patients. Home-care training reduces hospitalization duration as well as relevant costs and improves disease outcomes. This study was designed to assess the effect of home-care training on the self-efficacy of patients with beta thalassemia major. Methodology: This was a quasi-experimental, case-control, before and after intervention study conducted on 136 thalassemia cases from January 2014 to October 2015. Data was collected through Shere general self-efficacy questionnaire (SGSES). Home-care trainings were provided in the form of training courses with respect to the training needs of thalassemia major cases. Two (2) months after the end of training courses, SGSES questionnaire was filled again and the obtained data was analyzed by SPSS 21 as well as descriptive-inferential statistics (significance level=P≤0.05). Results: The results of this study revealed that the mean self-efficacy score of control group was 48.69±6.82 before intervention which increased to 46.69±6.81 after intervention. The mean self-efficacy score of case group was 44.58±5.23 before intervention which increased to 49.5±6.66 after intervention. The rise of self-efficacy score, after intervention, was significantly higher in the case group compared with the control group (P≤.001). Conclusion: According to results, home-care training can develop self-efficacy in thalassemia patients. In home-care training procedure patients play an active role. By providing home-care trainings, therefore, an effective step should be taken to promote the self-efficacy of the patients and to decrease associated problems. PMID:27999484

A polymorphism in the haptoglobin, haptoglobin related protein locus is associated with risk of human sleeping sickness within Cameroonian populations.

PubMed

Ofon, Elvis; Noyes, Harry; Mulindwa, Julius; Ilboudo, Hamidou; Simuunza, Martin; Ebo'o, Vincent; Njiokou, Flobert; Koffi, Mathurin; Bucheton, Bruno; Fogue, Pythagore; Hertz-Fowler, Christiane; MacLeod, Annette; Simo, Gustave

2017-10-01

Human African Trypanosomiasis (HAT) is a neglected disease targeted for elimination as a public health problem by 2020. Elimination requires a better understanding of the epidemiology and clinical evolution of HAT. In addition to the classical clinical evolution of HAT, asymptomatic carriers and spontaneous cure have been reported in West Africa. A genetic component to human susceptibility to HAT has been suggested to explain these newly observed responses to infection. In order to test for genetic associations with infection response, genetic polymorphism in 17 genes were tested (APOL1, IL1B, IL4, IL4R, IL6, IL8, IL12B, IL12RB1, IL10, TNFA, INFG, MIF, HLA-G, HLA-A, HP, HPR and CFH). A case-control study was performed on 180 blood samples collected from 56 cases and 124 controls from Cameroon. DNA was extracted from blood samples. After quality control, 25 samples (24 controls and 1 case) were eliminated. The genotyping undertaken on 155 individuals including 55 cases and 100 controls were investigated at 96 loci (88 SNPs and 8 indels) located on 17 genes. Associations between these loci and HAT were estimated via a case-control association test. Analyses of 64 SNPs and 4 indels out of 96 identified in the selected genes reveal that the minor allele (T) of rs8062041 in haptoglobin (HP) appeared to be protective against HAT (p = 0.0002395, OR 0.359 (CI95 [0.204-0.6319])); indicating higher frequency in cases compared to controls. This minor allele with adjusted p value of 0.0163 is associated with a lower risk (protective effect) of developing sleeping sickness. The haptoglobin related protein HPR and HP are tightly linked and both are duplicated in some people and may lead to higher activity. This increased production could be responsible of the protection associated with rs8062041 even though this SNP is within HP.

A polymorphism in the haptoglobin, haptoglobin related protein locus is associated with risk of human sleeping sickness within Cameroonian populations

PubMed Central

Ofon, Elvis; Noyes, Harry; Mulindwa, Julius; Ilboudo, Hamidou; Simuunza, Martin; Ebo’o, Vincent; Njiokou, Flobert; Koffi, Mathurin; Bucheton, Bruno; Fogue, Pythagore; Hertz-Fowler, Christiane; MacLeod, Annette

2017-01-01

Background Human African Trypanosomiasis (HAT) is a neglected disease targeted for elimination as a public health problem by 2020. Elimination requires a better understanding of the epidemiology and clinical evolution of HAT. In addition to the classical clinical evolution of HAT, asymptomatic carriers and spontaneous cure have been reported in West Africa. A genetic component to human susceptibility to HAT has been suggested to explain these newly observed responses to infection. In order to test for genetic associations with infection response, genetic polymorphism in 17 genes were tested (APOL1, IL1B, IL4, IL4R, IL6, IL8, IL12B, IL12RB1, IL10, TNFA, INFG, MIF, HLA-G, HLA-A, HP, HPR and CFH). Methodology A case-control study was performed on 180 blood samples collected from 56 cases and 124 controls from Cameroon. DNA was extracted from blood samples. After quality control, 25 samples (24 controls and 1 case) were eliminated. The genotyping undertaken on 155 individuals including 55 cases and 100 controls were investigated at 96 loci (88 SNPs and 8 indels) located on 17 genes. Associations between these loci and HAT were estimated via a case-control association test. Results Analyses of 64 SNPs and 4 indels out of 96 identified in the selected genes reveal that the minor allele (T) of rs8062041 in haptoglobin (HP) appeared to be protective against HAT (p = 0.0002395, OR 0.359 (CI95 [0.204–0.6319])); indicating higher frequency in cases compared to controls. This minor allele with adjusted p value of 0.0163 is associated with a lower risk (protective effect) of developing sleeping sickness. Conclusion The haptoglobin related protein HPR and HP are tightly linked and both are duplicated in some people and may lead to higher activity. This increased production could be responsible of the protection associated with rs8062041 even though this SNP is within HP. PMID:29077717

Vaccines are not associated with autism: an evidence-based meta-analysis of case-control and cohort studies.

PubMed

Taylor, Luke E; Swerdfeger, Amy L; Eslick, Guy D

2014-06-17

There has been enormous debate regarding the possibility of a link between childhood vaccinations and the subsequent development of autism. This has in recent times become a major public health issue with vaccine preventable diseases increasing in the community due to the fear of a 'link' between vaccinations and autism. We performed a meta-analysis to summarise available evidence from case-control and cohort studies on this topic (MEDLINE, PubMed, EMBASE, Google Scholar up to April, 2014). Eligible studies assessed the relationship between vaccine administration and the subsequent development of autism or autism spectrum disorders (ASD). Two reviewers extracted data on study characteristics, methods, and outcomes. Disagreement was resolved by consensus with another author. Five cohort studies involving 1,256,407 children, and five case-control studies involving 9,920 children were included in this analysis. The cohort data revealed no relationship between vaccination and autism (OR: 0.99; 95% CI: 0.92 to 1.06) or ASD (OR: 0.91; 95% CI: 0.68 to 1.20), nor was there a relationship between autism and MMR (OR: 0.84; 95% CI: 0.70 to 1.01), or thimerosal (OR: 1.00; 95% CI: 0.77 to 1.31), or mercury (Hg) (OR: 1.00; 95% CI: 0.93 to 1.07). Similarly the case-control data found no evidence for increased risk of developing autism or ASD following MMR, Hg, or thimerosal exposure when grouped by condition (OR: 0.90, 95% CI: 0.83 to 0.98; p=0.02) or grouped by exposure type (OR: 0.85, 95% CI: 0.76 to 0.95; p=0.01). Findings of this meta-analysis suggest that vaccinations are not associated with the development of autism or autism spectrum disorder. Furthermore, the components of the vaccines (thimerosal or mercury) or multiple vaccines (MMR) are not associated with the development of autism or autism spectrum disorder. Copyright © 2014 Elsevier Ltd. All rights reserved.

Lack of evidence for hepatitis C virus infection in association with lichen planus.

PubMed

Stojanovic, Larisa; Lunder, Tomaz; Poljak, Mario; Mars, Tomaz; Mlakar, Bostjan; Maticic, Mojca

2008-12-01

The association between hepatitis C virus (HCV) infection and lichen planus (LP) is a subject of controversy. Prevalence studies of HCV infection in LP patients in various countries reveal diverse results. The Slovenian population is rather homogenous with specific geographic and epidemiological characteristics. Lack of data or contradictory results from neighboring countries urged the need for a case-controlled study in our LP patients. The retrospective study was performed on 173 LP patients. Control group included 218 patients with dermatological diseases other than LP. Anti-HCV antibodies were found in 2/173 patients (1.2%) with LP and in 0/218 controls. No statistically significant difference was found between the study and control group regarding anti-HCV antibody prevalence (P = 0.195; estimated OR 6.4, 95% CI 0.3-134.0) and risk factors for HCV infection. Based on our results, anti-HCV antibody testing is not necessarily required in LP patients with no risk factors for HCV infection in this geographic region.

The case-control design in veterinary sciences: A survey.

PubMed

Cullen, Jonah N; Sargeant, Jan M; Makielski, Kelly M; O'Connor, Annette M

2016-11-01

The case-control study design is deceptively simple. However, many design considerations influence the estimated effect measure. An investigation of case-control studies in the human health literature suggested that some of these considerations are not described in reports of case-control studies. Our hypothesis was that the majority of veterinary studies labeled as case-controls would be incident density designs, and many would not interpret the effect measure obtained from those studies as the rate ratio rather than the odds ratio. Reference databases were searched for author-designated case-control studies. A survey of 100 randomly selected studies was conducted to examine the different design options described and estimated effect measures. Of the 100 author-identified case-control studies, 83 assessed an exposure-outcome association and, of those, only 54 (65.1%) sampled the study population based on an outcome and would thus be considered case-control designs. Twelve studies were incidence density designs but none used this terminology. Of the studies that reported an odds ratio as the effect measure, none reported on additional considerations that would have enabled a more interpretable result. This survey indicated many case-control-labeled studies were not case-control designs and among case-control studies, key design aspects were not often described. The absence of information about study design elements and underlying assumptions in case-control studies limits the ability to establish the effect measured by the study and the evidentiary value of the study might be underestimated. Copyright © 2016 Elsevier B.V. All rights reserved.

Reframing Financial Sector Identity: Options For Reducing Mexican Drug Cartel Economic Power

DTIC Science & Technology

2012-01-18

shows an organization listed by OFAC in 2011, the Cifuentes Villa Crime Organization, associated with the Sinaloa cartel. In this case , the diagram...respect to bulk cash smuggling and the overall scale of the issue. The most egregious case in banking history highlights the volume possible with a...fiscal regulations, with substantial failure of internal controls and policy at Wachovia.33 14  Further analysis of the Wachovia case reveals a

Land before coal: class and regional development in southeast Kentucky

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

Pudup, M.B.

1987-01-01

At the turn of the century southeast Kentucky's economy was transformed from household subsistence farming and manufacturing to industrial coal production. During prior decades the economy had lapsed into subsistence, failing to generate demands for local industry, and blocking export-oriental development. Three county case studies reveal each possessed a resident middle class whose social bases were large property ownership, control over local commerce, and dominance of county politics. The emergence and constitution of the local middle class is explained in terms of longevity, kinship, and the political economic localisms endemic to the southern United States. Although it did not becomemore » a regional capitalist vanguard, the local middle class nonetheless became essential in the local edifice of capitalism by investing in county seat commercial and service industries and by continuing its control of local politics. The middle class also facilitated the capitalization of mountain resources. Case studies illuminate this role, distinguish among categories of resource investors, and describe geographical outcomes of capital investment.« less

Epigenome-wide association studies without the need for cell-type composition.

PubMed

Zou, James; Lippert, Christoph; Heckerman, David; Aryee, Martin; Listgarten, Jennifer

2014-03-01

In epigenome-wide association studies, cell-type composition often differs between cases and controls, yielding associations that simply tag cell type rather than reveal fundamental biology. Current solutions require actual or estimated cell-type composition--information not easily obtainable for many samples of interest. We propose a method, FaST-LMM-EWASher, that automatically corrects for cell-type composition without the need for explicit knowledge of it, and then validate our method by comparison with the state-of-the-art approach. Corresponding software is available from http://www.microsoft.com/science/.

[Application of nested case-control study on safe evaluation of post-marketing traditional Chinese medicine injection].

PubMed

Xiao, Ying; Zhao, Yubin; Xie, Yanming

2011-10-01

The nested case-control study design (or the case-control in a cohort study) is described here as a new study design used in safe evaluation of post-marketing traditional Chinese medicine injection. In the nested case-control study, cases of a disease that occur in a defined cohort are identified and, for each, a specified number of matched controls is selected from among those in the cohort who have not developed the disease by the time of disease occurrence in the case. For many research questions, the nested case-control design potentially offers impressive reductions in costs and efforts of data collection and analysis compared with the full cohort approach, with relatively minor loss in statistical efficiency. The nested case-control design is particularly advantageous for studies in safe evaluation of post-marketing traditional Chinese medicine injection. Some examples of the application of nested case-control study were given.

Human papilloma virus prevalence in laryngeal squamous cell carcinoma.

PubMed

Gungor, A; Cincik, H; Baloglu, H; Cekin, E; Dogru, S; Dursun, E

2007-08-01

To determine the prevalence and type of human papilloma virus deoxyribonucleic acid (DNA) in cases of laryngeal squamous cell carcinoma. We analysed the prevalence of human papilloma virus infection in archived paraffin block specimens taken from 99 cases of laryngeal squamous cell carcinoma between 1990 and 2005, using polymerase chain reaction techniques. Biopsy specimens from five proven verrucous skin lesions were used as positive controls, and peripheral blood samples from five healthy volunteers were used as negative controls. Four test samples were found to have inadequate deoxyribonucleic acid purity and were therefore excluded from the study. Human papilloma virus deoxyribonucleic acid was detected in seven of 95 cases of laryngeal squamous cell carcinoma (7.36 per cent). Human papilloma virus genotyping revealed double human papilloma virus infection in three cases and single human papilloma virus infection in the remaining four cases. The human papilloma virus genotypes detected were 6, 11 and 16 (the latter detected in only one case). In our series, a very low human papilloma virus prevalence was found among laryngeal squamous cell carcinoma cases. The human papilloma virus genotypes detected were mostly 6 and/or 11, and 16 in only one case. To the best of our knowledge, this is the first report of human papilloma virus prevalence in laryngeal squamous cell carcinoma, based on polymerase chain reaction genotyping in a Turkish population.

Risk factors for sporadic listeriosis in the Netherlands, 2008 to 2013.

PubMed

Friesema, I H; Kuiling, S; van der Ende, A; Heck, M E; Spanjaard, L; van Pelt, W

2015-08-06

Although the disease burden of listeriosis on population level is low, on individual level the impact is high, largely due to severe illness and a high case fatality. Identification of risk factors supports and specifies public health actions needed for prevention. We performed a case–control study to determine host- and food-related risk factors for non-perinatal listeriosis in the Netherlands. Patients with non-perinatal listeriosis reported between July 2008 and December 2013 were compared with controls from a periodic control survey who completed a questionnaire in the same period. Higher age, male sex, underlying disease, especially cancer and kidney disease, and use of immunosuppressive medicine were strong risk factors for acquiring non-perinatal listeriosis. Analysis of the food consumption in the group of cases and controls with underlying diseases did not reveal any high-risk food products. Information and advice should continue to be given to persons at risk of severe listeriosis. Univariate analyses indicate that patients using gastric acid inhibitors are at risk. It is worth adding these patients to the group of susceptible persons.

Value of hemoglobin A1c in diagnosing diabetes mellitus within a chronic disease management system illustrated by the receiver operating characteristic curve.

PubMed

Eid, Wael E; Pottala, James V

2010-01-01

To develop a receiver operating characteristic (ROC) curve of glycosylated hemoglobin (HbA1c) for diagnosing diabetes mellitus within a chronic disease management system. A case-control study including medical records from January 1, 1997, to December 31, 2005, was conducted at the Sioux Falls Veterans Affairs Medical Center. Medical records for the case group (patients with diabetes) were selected based on 1 of 3 criteria: International Classification of Diseases, Ninth Revision, Clinical Modification or Current Procedural Terminology codes specific for type 1 and type 2 diabetes; patients' use of medications (oral hypoglycemic agents, antidiabetes agents, or insulin); or results from random blood or plasma glucose tests (at least 2 measurements of blood glucose > or = 200 mg/dL). Records for the control group were selected based on patients having HbA1c measured, but not meeting the above diagnostic criteria for diabetes during the study period. Records for cases and controls were randomly frequency-matched, one-to-one. The control group was randomly divided into 5 sets of an equal number of records. Five sets of an equal number of cases were then randomly selected from the total number of cases. Each test data set included 1 case group and 1 control group, resulting in 5 independent data sets. In total, 5040 patient records met the case definition in the diabetes registry. Records of 15 patients who were prescribed metformin only, but did not meet any other case criteria, were reviewed and excluded after determining the patients were not diabetic. The control group consisted of 5 sets of 616 records each (totaling 3080 records), and the case group consisted of 5 sets of 616 records each (totaling 3080 records). Thus, each of the 5 independent data sets of 1 case group and 1 control group contained 1232 records. The case group was predominantly composed of white men (mean age, 69 years; mean body mass index, 31 kg/m2). Demographic data were similar for control patients. The ROC curve revealed that a HbA1c > or = 6.3% (mean + 1 SD) offered the most accurate cutoff value for diagnosing type 2 diabetes mellitus, with the following statistical values: C statistic, 0.78; sensitivity, 70%; specificity, 85%; and positive likelihood ratio, 4.6 (95% confidence interval, 4.2-5.0). A HbA1c value > or = 6.3% may be a useful benchmark for diagnosing diabetes mellitus within a chronic disease management system and may be a useful tool for monitoring high-risk populations.

[The case-case-time-control study design].

PubMed

Wang, Jing; Zhuo, Lin; Zhan, Siyan

2014-12-01

Although the 'self-matched case-only studies' (such as the case-cross-over or self-controlled case-series method) can control the time-invariant confounders (measured or unmeasured) through design of the study, however, they can not control those confounders that vary with time. A bidirectional case-crossover design can be used to adjust the exposure-time trends. In the areas of pharmaco-epidemiology, illness often influence the future use of medications, making a bidirectional study design problematic. Suissa's case-time-control design combines the case-crossover and the case-control design which could adjust for exposure-trend bias, but the control group may reintroduce selection bias, if the matching does not go well. We propose a "case-case-time-control" design which is an extension of the case-time-control design. However, rather than using a sample of external controls, we choose those future cases as controls for current cases to counter the bias that arising from temporal trends caused by exposure to the target of interest. In the end of this article we will discuss the strength and limitations of this design based on an applied example.

Where Do Neurologists Look When Viewing Brain CT Images? An Eye-Tracking Study Involving Stroke Cases

PubMed Central

Matsumoto, Hideyuki; Terao, Yasuo; Yugeta, Akihiro; Fukuda, Hideki; Emoto, Masaki; Furubayashi, Toshiaki; Okano, Tomoko; Hanajima, Ritsuko; Ugawa, Yoshikazu

2011-01-01

The aim of this study was to investigate where neurologists look when they view brain computed tomography (CT) images and to evaluate how they deploy their visual attention by comparing their gaze distribution with saliency maps. Brain CT images showing cerebrovascular accidents were presented to 12 neurologists and 12 control subjects. The subjects' ocular fixation positions were recorded using an eye-tracking device (Eyelink 1000). Heat maps were created based on the eye-fixation patterns of each group and compared between the two groups. The heat maps revealed that the areas on which control subjects frequently fixated often coincided with areas identified as outstanding in saliency maps, while the areas on which neurologists frequently fixated often did not. Dwell time in regions of interest (ROI) was likewise compared between the two groups, revealing that, although dwell time on large lesions was not different between the two groups, dwell time in clinically important areas with low salience was longer in neurologists than in controls. Therefore it appears that neurologists intentionally scan clinically important areas when reading brain CT images showing cerebrovascular accidents. Both neurologists and control subjects used the “bottom-up salience” form of visual attention, although the neurologists more effectively used the “top-down instruction” form. PMID:22174928

A potential risk factor of essential hypertension in case-control study: Circular RNA hsa_circ_0037911.

PubMed

Bao, Xingjie; Zheng, Shuying; Mao, Shuqi; Gu, Tianlun; Liu, Shike; Sun, Jihan; Zhang, Lina

2018-04-15

Essential hypertension (EH) is a high prevalence with multifactorial diseases. Human studies on the impact of genes on this disease are just in the initial stage, the mechanism of gene regulation is still remains unclear. Circular RNAs (circRNAs) as a continuous cycle of covalent closure, RNA molecules added to the 3'-5' end covalently bound by the formation of incidental event. CircRNAs may be an important biomolecule in revealing the molecule regulate mechanisms of EH. The circRNAs were selected and validated with qRT-PCR followed. Our experiment was conducted with case-control studies among 200 EH participants. The t-test was used to evaluate the different expression of circRNAs and miRNAs, the significance of which was set as p < 0.05. The hsa_circ_0037911 expression level in EH cases were significantly higher than healthy controls (p = 0.005). There was still important significance when adjusted by logistic regression (adjusted p = 0.026). We also found that hsa_circ_0037911 was an effective marker of EH (area under curve = 0.627; p = 0.002). The levels of hsa_circ_0037911 were significantly differences in gender, BMI, smoking and drinking among EH cases. There was a positive correlation between Serum creatinine (Scr) and hsa_circ_0037911. Our findings suggested that higher expression hsa_circ_0037911 may be key circRNAs for EH development by changing the concentration of Scr and could be a stable biomarker for early diagnosis of EH. Copyright © 2018 Elsevier Inc. All rights reserved.

Association between MTHFR C677T polymorphism and abdominal aortic aneurysm risk

PubMed Central

Liu, Jie; Jia, Xin; Li, Haifeng; Jia, Senhao; Zhang, Minhong; Xu, Yongle; Du, Xin; Zhang, Nianrong; Lu, Weihang; Guo, Wei

2016-01-01

Abstract Background: Abdominal aortic aneurysm (AAA) is a life-threatening condition. A number of studies reported the association between methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism and AAA risk, but substantial controversial findings were observed and the strength of the association remains unclear. Objective: The aim of this study was to investigate the aforementioned association in the overall population and different subgroups. Methods: PUBMED and EMBASE databases were searched until March 2016 to identify eligible studies, restricted to humans and articles published in English. Summary odds ratios (ORs) and 95% confidence intervals (CIs) were used to evaluate the susceptibility to AAA. Subgroup meta-analyses were conducted on features of the population, such as ethnicity, sex of the participants, and study design (source of control). Results: Twelve case–control studies on MTHFR C677T polymorphism and AAA risk, including 3555 cases and 6568 case-free controls were identified. The results revealed no significant association between the MTHFR C677T polymorphism and AAA risk in the overall population and within Caucasian or Asian subpopulations in all 5 genetic models. Further subgroup meta-analysis indicated that significantly increased risks were observed among cases with a mean age <70 years (OR = 1.73, 95% CI = 1.10–2.12, P = 0.02), cases with prevalence of smoking <60% (OR = 1.39, 95% CI = 1.02–1.90, P = 0.04), and cases with aneurysm diameter ≥55 mm (OR = 1.55, 95% CI = 1.07–2.24, P = 0.02) in the dominant genetic model. No publication bias was detected in the present study. Conclusion: In conclusion, our comprehensive meta-analysis suggests that the MTHFR C677T polymorphism may play an important role in AAA susceptibility, especially in younger, non-smoking, larger AAA-diameter subgroups of patients PMID:27603386

Association between the length of the MUC8-minisatellite 5 region and susceptibility to chronic obstructive pulmonary disease (COPD).

PubMed

Lee, Se-Ra; Kim, Won-Tae; Kim, Tae Nam; Nam, Jong Kil; Kim, Woo Jin; Leem, Sun-Hee

2018-01-01

In asthma and chronic obstructive pulmonary disease (COPD), mucins display disease-related alterations caused by airway mucus obstruction. MUC5AC, MUC5B and MUC8 are known as the major secretory mucins in human airway epithelial cells. Analysis of mucin genes has identified the presence of several features with a variable number of tandem repeats (VNTR; minisatellites) in the central region of each mucin. In our previous study, six minisatellites in the region of the MUC8 gene were identified, and the MUC8-MS5 minisatellite showed the highest heterozygosity among them. In this study, we evaluated the relationship between MUC8-MS5 and susceptibility to asthma and COPD. A case-control study was performed with 229 controls, 123 COPD cases and 77 asthma cases. A significant association (OR 3.96) between short alleles (2/2 repeats) and the occurrence of COPD was observed [95% confidence interval (CI) 1.32-11.88; p = 0.008]. Hence, the increased frequency of 2/2 homo-short alleles were also found in asthma cases (3.11; CI 0.88-11.05; p = 0.066), though this association was not statistically significant. These results revealed a genetic association between MUC8 and COPD, and that the specific short minisatellite alleles (2/2) of MUC8-MS5 may be a risk factor for COPD.

Evaluation of Female Breast Cancer Risk Among the Betel Quid Chewer: A Bio-Statistical Assessment in Assam, India.

PubMed

Rajbongshi, Nijara; Mahanta, Lipi B; Nath, Dilip C

2015-06-01

Breast cancer is the most commonly diagnosed cancer among the female population of Assam, India. Chewing of betel quid with or without tobacco is common practice among female population of this region. Moreoverthe method of preparing the betel quid is different from other parts of the country.So matched case control study is conducted to analyse whetherbetel quid chewing plays a significant role in the high incidence of breast cancer occurrences in Assam. Here, controls are matched to the cases by age at diagnosis (±5 years), family income and place of residence with matching ratio 1:1. Conditional logistic regression models and odd ratios (OR) was used to draw conclusions. It is observed that cases are more habituated to chewing habits than the controls.Further the conditional logistic regression analysis reveals that betel quid chewer faces 2.353 times more risk having breast cancer than the non-chewer with p value 0.0003 (95% CI 1.334-4.150). Though the female population in Assam usually does not smoke, the addictive habits typical to this region have equal effect on the occurrence of breast cancer.

HIV and childhood disability: a case-controlled study at a paediatric antiretroviral therapy centre in Lilongwe, Malawi.

PubMed

Devendra, Akash; Makawa, Atupele; Kazembe, Peter N; Calles, Nancy R; Kuper, Hannah

2013-01-01

As paediatric antiretroviral therapy (ART) is rapidly scaled up in Southern Africa, Human Immunodeficiency Virus (HIV) infection is becoming a chronic illness. Children growing up with HIV may begin to encounter disabilities. The relationship between HIV, disability and the need for rehabilitation has added an additional element that needs to be addressed by paediatric HIV treatment programmes. 1) Estimate the prevalence of disabilities in HIV-infected and HIV-uninfected children in Lilongwe, Malawi. 2) Examine types of disability and associated clinical and socio-demographic factors. 3) Identify needs, opportunities and barriers for rehabilitation in Malawi. A case-controlled study of 296 HIV-infected children aged 2-9 years attending an ART centre in Lilongwe (cases) and their uninfected siblings (controls) was conducted. Disability was assessed using the WHO Ten Question Screen (TQS). Socio-demographic and clinical data were collected using a parent-proxy questionnaire and medical records. Of 296 case and control pairs recruited, 33% (98) versus 7% (20) screened positive for a disability (OR 8.4, 4.4-15.7) respectively. Of these 98 HIV-infected cases, 6%, 36%, 33%, 53%, 46% and 6% had a vision, hearing; physical, learning/comprehension, speech or seizure-related disability respectively and 51% had multiple coexisting disabilities. HIV-infected cases with a disability were more likely to be WHO stage III or IV at enrolment (71% vs. 52%, OR 2.7, 1.5-4.2), to have had TB (58% vs. 39%, OR 2.3, 1.4-3.8) and to have below-average school grades (18% vs. 2%, OR 11.1, 2.2-54.6) than those without. Sixty-seven percent of cases with a disability had never attended any rehabilitative service. Twenty-nine percent of caregivers reported facing stigma and discrimination because of the child's disability. This study reveals the magnitude of disability among HIV-infected children and the large unmet need for rehabilitation services. This expanding issue demands further investigation to provide an evidence base for holistic care for disabled children living with HIV.

Some novel insights on HPV16 related cervical cancer pathogenesis based on analyses of LCR methylation, viral load, E7 and E2/E4 expressions.

PubMed

Das Ghosh, Damayanti; Bhattacharjee, Bornali; Sen, Shrinka; Premi, Laikangbam; Mukhopadhyay, Indranil; Chowdhury, Rahul Roy; Roy, Sudipta; Sengupta, Sharmila

2012-01-01

This study was undertaken to decipher the interdependent roles of (i) methylation within E2 binding site I and II (E2BS-I/II) and replication origin (nt 7862) in the long control region (LCR), (ii) expression of viral oncogene E7, (iii) expression of the transcript (E7-E1/E4) that encodes E2 repressor protein and (iv) viral load, in human papillomavirus 16 (HPV16) related cervical cancer (CaCx) pathogenesis. The results revealed over-representation (p<0.001) of methylation at nucleotide 58 of E2BS-I among E2-intact CaCx cases compared to E2-disrupted cases. Bisulphite sequencing of LCR revealed overrepresentation of methylation at nucleotide 58 or other CpGs in E2BS-I/II, among E2-intact cases than E2-disrupted cases and lack of methylation at replication origin in case of both. The viral transcript (E7-E1/E4) that produces the repressor E2 was analyzed by APOT (amplification of papillomavirus oncogenic transcript)-coupled-quantitative-RT-PCR (of E7 and E4 genes) to distinguish episomal (pure or concomitant with integrated) from purely integrated viral genomes based on the ratio, E7 C(T)/E4 C(T). Relative quantification based on comparative C(T) (threshold cycle) method revealed 75.087 folds higher E7 mRNA expression in episomal cases over purely integrated cases. Viral load and E2 gene copy numbers were negatively correlated with E7 C(T) (p = 0.007) and E2 C(T) (p<0.0001), respectively, each normalized with ACTB C(T), among episomal cases only. The k-means clustering analysis considering E7 C(T) from APOT-coupled-quantitative-RT-PCR assay, in conjunction with viral load, revealed immense heterogeneity among the HPV16 positive CaCx cases portraying integrated viral genomes. The findings provide novel insights into HPV16 related CaCx pathogenesis and highlight that CaCx cases that harbour episomal HPV16 genomes with intact E2 are likely to be distinct biologically, from the purely integrated viral genomes in terms of host genes and/or pathways involved in cervical carcinogenesis.

Alzheimer's disease is associated with prostate cancer: a population-based study.

PubMed

Lin, Herng-Ching; Kao, Li-Ting; Chung, Shiu-Dong; Huang, Chung-Chien; Shia, Ben-Chang; Huang, Chao-Yuan

2018-01-26

Alzheimer's disease and cancer are increasingly prevalent with advancing age. However, the association between Alzheimer's disease and prostate cancer remains unclear. The aim of this study was to examine the relationship between prior Alzheimer's disease and subsequent prostate cancer using a population-based dataset in Taiwan. Data for this study were sourced from the Taiwan Longitudinal Health Insurance Database 2005. This case-control study included 2101 prostate cancer patients as cases and 6303 matched controls. We used conditional logistic regression analyses to calculate the odds ratio (OR) and corresponding 95% confidence interval (CI) for Alzheimer's disease between prostate cancer patients and controls. We found that of the 8404 sampled patients, 128 (1.5%) had been diagnosed with Alzheimer's disease prior to the index date. A Chi-squared test showed that there was a significant difference in the prevalences of prior Alzheimer's disease between prostate cancer patients and controls (2.1% vs. 1.3%, p < 0.001). The conditional logistic regression analysis showed that the OR of prior Alzheimer's disease for prostate cancer patients was 1.53 (95% CI: 1.06∼2.21) compared to controls. Furthermore, the OR of prior Alzheimer's disease for prostate cancer patients was 1.52 (95% CI: 1.04∼2.22) compared to controls after adjusting for hypertension, diabetes, coronary heart disease, hyperlipidemia, obesity, prostatitis, gonorrhea or chlamydia infection, testitis or epididymitis, and alcohol abuse/alcohol dependency syndrome. This study revealed an association between prior Alzheimer's disease and prostate cancer. We suggest that clinicians be alert to the increased risk of prostate cancer when caring for elderly individuals with Alzheimer's disease.

Single-nucleotide polymorphisms of MMP2 in MMP/TIMP pathways associated with the risk of alcohol-induced osteonecrosis of the femoral head in Chinese males: A case-control study.

PubMed

Yu, Yan; Xie, Zhilan; Wang, Jihan; Chen, Chu; Du, Shuli; Chen, Peng; Li, Bin; Jin, Tianbo; Zhao, Heping

2016-12-01

The proportion of alcohol-induced osteonecrosis of the femoral head (ONFH) in all ONFH patients was 30.7%, with males prevailing among the ONFH patients in mainland China (70.1%). Matrix metalloproteinase 2 (MMP2), a member of the MMP gene family, encodes the enzyme MMP2, which can promote osteoclast migration, attachment, and bone matrix degradation. In this case-control study, we aimed to investigate the association between MMP2 and the alcohol-induced ONFH in Chinese males.In total, 299 patients with alcohol-induced ONFH and 396 healthy controls were recruited for a case-control association study. Five single-nucleotide polymorphisms within the MMP2 locus were genotyped and examined for their correlation with the risk of alcohol-induced ONFH and treatment response using Pearson χ test and unconditional logistic regression analysis. We identified 3 risk alleles for carriers: the allele "T" of rs243849 increased the risk of alcohol-induced ONFH in the allele model, the log-additive model without adjustment, and the log-additive model with adjustment for age. Conversely, the genotypes "CC" in rs7201 and "CC" in rs243832 decreased the risk of alcohol-induced ONFH, as revealed by the recessive model. After the Bonferroni multiple adjustment, no significant association was found. Furthermore, the haplotype analysis showed that the "TT" haplotype of MMP2 was more frequent among patients with alcohol-induced ONFH by unconditional logistic regression analysis adjusted for age.In conclusion, there may be an association between MMP2 and the risk of alcohol-induced ONFH in North-Chinese males. However, studies on larger populations are needed to confirm this hypothesis; these data may provide a theoretical foundation for future studies.

Association of Ring Finger Protein 213 Gene P.R4810k Polymorphism with Intracranial Major Artery Stenosis/Occlusion.

PubMed

Zhang, Qian; Yu, Lebao; Ge, Peicong; Ma, Yonggang; Zhang, Dong; Zhang, Yan; Wang, Rong; Wang, Shuo; Zhao, Yuanli; Cao, Yong; Liu, Xingju; Deng, Xiaofeng; Zhao, Jizong

2018-06-01

Intracranial major artery stenosis/occlusion (ICASO) is a common cause of ischemic stroke worldwide. A number of studies have assessed the association of the p.R4810K polymorphism in the ring finger protein 213 (RNF213) gene with ICASO, but the results have not been entirely consistent. We conducted a case-control study to estimate the association between the p.R4810K polymorphism and the risk of ICASO in a Chinese population. A total of 124 patients and 230 controls were enrolled. Moreover, a meta-analysis was performed to evaluate this association in the East Asian populations. In our case-control study, the frequencies of the G/A genotype of p.R4810K were significantly higher in the ICASO patients than in the control group (4.03% versus .43%, P = .021, respectively). Moreover, in the meta-analysis, we assessed 7 case-control studies that included 1239 patients and 1377 controls. The pooled odds ratios (ORs) indicated significant association between the p.R4810K polymorphism and the ICASO risk in the dominant model (OR = 9.37, 95% confidence interval: 4.61-19.02, P = .000), the heterozygote comparison (OR = 8.97, 95% CI: 4.41-18.25, P = .000), and the allele comparison (OR = 9.50, 95% confidence interval: 4.71-19.19, P = .000) in the East Asian populations. Subgroup analysis based on ethnicity revealed that the risks in the Japanese and the Korean populations were higher than that in the Chinese population. The p.R4810K polymorphism was associated with an increased risk of ICASO in the East Asian populations. Further studies on the function of the RNF213 protein and the clinical features of this subtype of ICASO are needed. Copyright © 2018 National Stroke Association. Published by Elsevier Inc. All rights reserved.

Feeling connected to younger versus older selves: the asymmetric impact of life stage orientation.

PubMed

O'Brien, Ed

2015-01-01

The concept of life-stage orientation is proposed. Youth is a period of time characterised by strong feelings and emotions, but weak reasoning and cognitive skill. Conversely, adulthood is characterised by strong rationality, but weak emotionality. Two studies revealed that merely bringing these concepts to mind changes real-time feelings and behaviour. Participants who were instructed to act like their "adult" selves exhibited greater self-control in a cold pressor test than control participants and those who acted like their "youth" selves (Experiment 1). However, being induced to feel connected to youth enhanced enjoyment for fun videos (Experiment 2). Hence, the extent to which people are oriented towards youth versus adulthood has asymmetric costs and benefits for the present. Connecting to youth boosts experiential capacities (in this case, enjoying oneself) at the cost of agency, whereas connecting to adulthood boosts agentic capacities (in this case, exerting will-power) at the cost of experience.

TREM2 p.H157Y Variant and the Risk of Alzheimer's Disease: A Meta-Analysis Involving 14,510 Subjects.

PubMed

Jiang, Teng; Hou, Jian-Kang; Gao, Qing; Yu, Jin-Tai; Zhou, Jun-Shan; Zhao, Hong-Dong; Zhang, Ying-Dong

2016-01-01

We recently revealed that p.H157Y (rs2234255), a rare coding variant of triggering receptor expressed on myeloid cells 2 gene (TREM2), was associated with Alzheimer's disease (AD) susceptibility in Han Chinese. Contrastingly, although p.H157Y was previously identified in both AD cases and controls by several sequencing studies, no association of this variant with disease susceptibility was reported. To gain a credible conclusion on the association between p.H157Y and AD risk, a meta-analysis involving 7,102 cases and 7,408 controls was conducted. Our results indicated that p.H157Y was associated with an increased risk of AD (OR=3.65, 95% CI: 1.61-8.28; P=0.002), further establishing TREM2 as an important susceptibility gene for this disease.

Bacterial infection in deep paraspinal muscles in a parturient following epidural analgesia.

PubMed

Yang, Ying-Wei; Chen, Wei-Ting; Chen, Jui-Yuan; Lee, She-Chin; Chang, Yi; Wen, Yeong-Ray

2011-06-01

We report a case of paraspinal muscle infection shortly after epidural analgesia for labor pain in a nulliparous parturient who was subjected to emergent Cesarean section because of fetal distress. Epidural morphine was administered for 3 days for postoperative pain control. She began to have constant lower back pain on postpartum Day 4. Magnetic resonance image study revealed a broad area of subcutaneous edema with a continuum along the catheter trajectory deep to the paraspinal muscles. An injection-related bacterial infection was suspected; the patient was treated with intravenous antibiotics and was soon cured uncomplicatedly. Epidural analgesia is effective to control labor pain and, in general, it is safe. However, the sequelae of complicated infection may be underestimated. We herein report a case complicated by iatrogenic infection, discuss the causes, and give suggestions for prevention. Copyright © 2011. Published by Elsevier B.V.

Contrasting Municipal Responses to the Provision of Birth Control Services in Halifax and Exeter before 1948

PubMed Central

Dale, Pamela; Fisher, Kate

2010-01-01

Research exploring the development of the birth control movement in Britain continues to reveal new insights. Local case studies highlight the contentious nature of birth control debates and the significant obstacles that had to be overcome before services could be provided. Moving away from a focus on the activities of birth control campaigners and organisations, such as the Family Planning Association, this paper highlights other local actors in the statutory and voluntary sectors to map why clinics emerged when and where they did. The contrasting examples, provided by Exeter and Halifax, demonstrate the importance of multiple points of contact between local authorities and supporters and opponents of birth control. They also suggest that the attitude of local medical and political elites is not sufficient to explain the success or failure of any clinic.

Genetic analysis of hyperemesis gravidarum reveals association with intracellular calcium release channel (RYR2).

PubMed

Fejzo, Marlena Schoenberg; Myhre, Ronny; Colodro-Conde, Lucía; MacGibbon, Kimber W; Sinsheimer, Janet S; Reddy, M V Prasad Linga; Pajukanta, Päivi; Nyholt, Dale R; Wright, Margaret J; Martin, Nicholas G; Engel, Stephanie M; Medland, Sarah E; Magnus, Per; Mullin, Patrick M

2017-01-05

Hyperemesis Gravidarum (HG), severe nausea/vomiting in pregnancy (NVP), can cause poor maternal/fetal outcomes. Genetic predisposition suggests the genetic component is essential in discovering an etiology. We performed whole-exome sequencing of 5 families followed by analysis of variants in 584 cases/431 controls. Variants in RYR2 segregated with disease in 2 families. The novel variant L3277R was not found in any case/control. The rare variant, G1886S was more common in cases (p = 0.046) and extreme cases (p = 0.023). Replication of G1886S using Norwegian/Australian data was supportive. Common variants rs790899 and rs1891246 were significantly associated with HG and weight loss. Copy-number analysis revealed a deletion in a patient. RYR2 encodes an intracellular calcium release channel involved in vomiting, cyclic-vomiting syndrome, and is a thyroid hormone target gene. Additionally, RYR2 is a downstream drug target of Inderal, used to treat HG and CVS. Thus, herein we provide genetic evidence for a pathway and therapy for HG. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

Hypnotherapy of a pain disorder: a clinical case study.

PubMed

Artimon, Henrieta Mihaela

2015-01-01

Hypnotherapy's effectiveness in improving and controlling chronic pain of various etiologies has been demonstrated by studies; the mechanism by which hypnosis does this is more complex than a simple induction of muscle relaxation. This study reveals, in addition to this mechanism, a deeper dimension of hypnotherapy from the vantage of a patient with a medical-surgical background, diagnosed with a pain disorder and major severe depressive disorder in addition to incurable painful symptoms, through treatment associated with hypnoanalysis. Following psychotherapy, which included some elements of cognitive-behavioral therapy, a complete remission of the anxious-depressive mood and the painful symptoms was achieved.

Low-frequency drug-resistant HIV-1 and risk of virological failure to first-line NNRTI-based ART: a multicohort European case-control study using centralized ultrasensitive 454 pyrosequencing.

PubMed

Cozzi-Lepri, Alessandro; Noguera-Julian, Marc; Di Giallonardo, Francesca; Schuurman, Rob; Däumer, Martin; Aitken, Sue; Ceccherini-Silberstein, Francesca; D'Arminio Monforte, Antonella; Geretti, Anna Maria; Booth, Clare L; Kaiser, Rolf; Michalik, Claudia; Jansen, Klaus; Masquelier, Bernard; Bellecave, Pantxika; Kouyos, Roger D; Castro, Erika; Furrer, Hansjakob; Schultze, Anna; Günthard, Huldrych F; Brun-Vezinet, Francoise; Paredes, Roger; Metzner, Karin J

2015-03-01

It is still debated if pre-existing minority drug-resistant HIV-1 variants (MVs) affect the virological outcomes of first-line NNRTI-containing ART. This Europe-wide case-control study included ART-naive subjects infected with drug-susceptible HIV-1 as revealed by population sequencing, who achieved virological suppression on first-line ART including one NNRTI. Cases experienced virological failure and controls were subjects from the same cohort whose viraemia remained suppressed at a matched time since initiation of ART. Blinded, centralized 454 pyrosequencing with parallel bioinformatic analysis in two laboratories was used to identify MVs in the 1%-25% frequency range. ORs of virological failure according to MV detection were estimated by logistic regression. Two hundred and sixty samples (76 cases and 184 controls), mostly subtype B (73.5%), were used for the analysis. Identical MVs were detected in the two laboratories. 31.6% of cases and 16.8% of controls harboured pre-existing MVs. Detection of at least one MV versus no MVs was associated with an increased risk of virological failure (OR = 2.75, 95% CI = 1.35-5.60, P = 0.005); similar associations were observed for at least one MV versus no NRTI MVs (OR = 2.27, 95% CI = 0.76-6.77, P = 0.140) and at least one MV versus no NNRTI MVs (OR = 2.41, 95% CI = 1.12-5.18, P = 0.024). A dose-effect relationship between virological failure and mutational load was found. Pre-existing MVs more than double the risk of virological failure to first-line NNRTI-based ART. © The Author 2014. Published by Oxford University Press on behalf of the British Society for Antimicrobial Chemotherapy.

Association between coronary heart disease and erectile dysfunction in Chinese Han population

PubMed Central

Tian, Guo-Xiang; Li, Sheng; Liu, Tong-Zu; Zeng, Xian-Tao; Wei, Wan-Lin; Wang, Xing-Huan

2017-01-01

To investigate the association between coronary heart disease (CHD) and erectile dysfunction (ED) in Chinese Han population. Patients who went to the andrological out-patient clinic of our hospital between August 1, 2015 and May 1, 2016 and met all eligible criteria were enrolled in this study. The patients diagnosed as ED using self-administered International Index of Erectile Function-5 (IIEF-5) questionnaire were considered as case group and others were considered as control. The cases were categorized as mild, moderate, and severe ED. Subjects were interviewed for the history of CHD. Uni- and multivariate logistic regression models were used to calculate odds ratios (ORs) and corresponding 95% confidence intervals (CIs) using the SPSS 18.0 software. A total of 240 participants (56 ED patients and 184 controls) were enrolled. CHD prevalence was higher in cases without statistical significance (OR = 1.20, 95%CI = 0.63-2.29; p = 0.58). Results of adjusted analysis also showed a non-significantly increased risk (OR = 1.25, 95%CI = 0.55-2.85; p = 0.59). Stratified analysis by severity of ED revealed similar results. This study suggests no significant association exists between CHD and ED in Chinese Han population. PMID:28903442

Polymorphisms of the Tissue Inhibitor of Metalloproteinase 3 Gene Are Associated with Resistance to High-Altitude Pulmonary Edema (HAPE) in a Japanese Population: A Case Control Study Using Polymorphic Microsatellite Markers

PubMed Central

Kobayashi, Nobumitsu; Hanaoka, Masayuki; Droma, Yunden; Ito, Michiko; Katsuyama, Yoshihiko; Kubo, Keishi; Ota, Masao

2013-01-01

Introduction High-altitude pulmonary edema (HAPE) is a hypoxia-induced, life-threatening, high permeability type of edema attributable to pulmonary capillary stress failure. Genome-wide association analysis is necessary to better understand how genetics influence the outcome of HAPE. Materials and Methods DNA samples were collected from 53 subjects susceptible to HAPE (HAPE-s) and 67 elite Alpinists resistant to HAPE (HAPE-r). The genome scan was carried out using 400 polymorphic microsatellite markers throughout the whole genome in all subjects. In addition, six single nucleotide polymorphisms (SNPs) of the gene encoding the tissue inhibitor of metalloproteinase 3 (TIMP3) were genotyped by Taqman® SNP Genotyping Assays. Results The results were analyzed using case-control comparisons. Whole genome scanning revealed that allele frequencies in nine markers were statistically different between HAPE-s and HAPE-r subjects. The SNP genotyping of the TIMP3 gene revealed that the derived allele C of rs130293 was associated with resistance to HAPE [odds ratio (OR) = 0.21, P = 0.0012) and recessive inheritance of the phenotype of HAPE-s (P = 0.0012). A haplotype CAC carrying allele C of rs130293 was associated with resistance to HAPE. Discussion This genome-wide association study revealed several novel candidate genes associated with susceptibility or resistance to HAPE in a Japanese population. Among those, the minor allele C of rs130293 (C/T) in the TIMP3 gene was linked to resistance to HAPE; while, the ancestral allele T was associated with susceptibility to HAPE. PMID:23991023

Cumulative Small Effect Genetic Markers and the Risk of Colorectal Cancer in Poland, Estonia, Lithuania, and Latvia

PubMed Central

Serrano-Fernandez, Pablo; Dymerska, Dagmara; Kurzawski, Grzegorz; Derkacz, Róża; Sobieszczańska, Tatiana; Banaszkiewicz, Zbigniew; Roomere, Hanno; Oitmaa, Eneli; Metspalu, Andres; Janavičius, Ramūnas; Elsakov, Pavel; Razumas, Mindaugas; Petrulis, Kestutis; Irmejs, Arvīds; Miklaševičs, Edvīns; Scott, Rodney J.; Lubiński, Jan

2015-01-01

The continued identification of new low-penetrance genetic variants for colorectal cancer (CRC) raises the question of their potential cumulative effect among compound carriers. We focused on 6 SNPs (rs380284, rs4464148, rs4779584, rs4939827, rs6983267, and rs10795668), already described as risk markers, and tested their possible independent and combined contribution to CRC predisposition. Material and Methods. DNA was collected and genotyped from 2330 unselected consecutive CRC cases and controls from Estonia (166 cases and controls), Latvia (81 cases and controls), Lithuania (123 cases and controls), and Poland (795 cases and controls). Results. Beyond individual effects, the analysis revealed statistically significant linear cumulative effects for these 6 markers for all samples except of the Latvian one (corrected P value = 0.018 for the Estonian, corrected P value = 0.0034 for the Lithuanian, and corrected P value = 0.0076 for the Polish sample). Conclusions. The significant linear cumulative effects demonstrated here support the idea of using sets of low-risk markers for delimiting new groups with high-risk of CRC in clinical practice that are not carriers of the usual CRC high-risk markers. PMID:26101521

Cumulative Small Effect Genetic Markers and the Risk of Colorectal Cancer in Poland, Estonia, Lithuania, and Latvia.

PubMed

Serrano-Fernandez, Pablo; Dymerska, Dagmara; Kurzawski, Grzegorz; Derkacz, Róża; Sobieszczańska, Tatiana; Banaszkiewicz, Zbigniew; Roomere, Hanno; Oitmaa, Eneli; Metspalu, Andres; Janavičius, Ramūnas; Elsakov, Pavel; Razumas, Mindaugas; Petrulis, Kestutis; Irmejs, Arvīds; Miklaševičs, Edvīns; Scott, Rodney J; Lubiński, Jan

2015-01-01

The continued identification of new low-penetrance genetic variants for colorectal cancer (CRC) raises the question of their potential cumulative effect among compound carriers. We focused on 6 SNPs (rs380284, rs4464148, rs4779584, rs4939827, rs6983267, and rs10795668), already described as risk markers, and tested their possible independent and combined contribution to CRC predisposition. Material and Methods. DNA was collected and genotyped from 2330 unselected consecutive CRC cases and controls from Estonia (166 cases and controls), Latvia (81 cases and controls), Lithuania (123 cases and controls), and Poland (795 cases and controls). Results. Beyond individual effects, the analysis revealed statistically significant linear cumulative effects for these 6 markers for all samples except of the Latvian one (corrected P value = 0.018 for the Estonian, corrected P value = 0.0034 for the Lithuanian, and corrected P value = 0.0076 for the Polish sample). Conclusions. The significant linear cumulative effects demonstrated here support the idea of using sets of low-risk markers for delimiting new groups with high-risk of CRC in clinical practice that are not carriers of the usual CRC high-risk markers.

Association between HIV status and depressive symptoms among children and adolescents in the Southern Highlands Zone, Tanzania: A case-control study.

PubMed

Lwidiko, Abraham; Kibusi, Stephen Matthew; Nyundo, Azan; Mpondo, Bonaventura C T

2018-01-01

Children and adolescents continue to have HIV/AIDS in southern Saharan Africa. Scaling up of HIV services has significantly improved access to ARV and consequently improved on morbidity and mortality related to HIV/AIDS including opportunistic infection. Despite the above efforts, non-communicable conditions including mental disorders such as depression have been observed to contribute to the burden of disabilities about which little is documented. This study, therefore, aimed to determine the magnitude of depressive symptoms and the associated factors among HIV-infected children and adolescents. The study was a matched case-control design involving 300 cases of HIV-infected children matched by age and sex against 600 uninfected controls. Systematic sampling technique was used to select the cases while multistage sampling technique was employed to identify villages/ streets purposive and sampling technique was employed to obtain participants from households. The overall prevalence of depressive symptoms among the cohort of 900 participants was found to be 12.9%, with 27% of HIV-infected and 5.8% of HIV-uninfected children and adolescents screened positive for depressive symptoms. Multiple logistic regression revealed that being HIV-infected (AOR 1.96(1.11-3.45)), residing in a rural setting (AOR 0.61(0.39-0.96)) and history of childhood deprivation (AOR 4.76 (2.79-8.13)) were significantly associated with depressive symptoms. HIV infected adolescents are more affected by depression compared to non-infected counterparts. Childhood deprivation was significantly associated with presence of depressive symptoms. Integration of mental health evaluation and treatment into the HIV care provided for adolescents can be beneficial. More studies to delineate factors associated with depressed adolescents with HIV may add value to the body of knowledge and overall improvement of care.

INDIVIDUAL DIFFERENCES IN AUDITORY PROCESSING IN SPECIFIC LANGUAGE IMPAIRMENT: A FOLLOW-UP STUDY USING EVENT-RELATED POTENTIALS AND BEHAVIOURAL THRESHOLDS

PubMed Central

Bishop, Dorothy V.M.; McArthur, Genevieve M.

2005-01-01

It has frequently been claimed that children with specific language impairment (SLI) have impaired auditory perception, but there is much controversy about the role of such deficits in causing their language problems, and it has been difficult to establish solid, replicable findings in this area. Discrepancies in this field may arise because (a) a focus on mean results obscures the heterogeneity in the population and (b) insufficient attention has been paid to maturational aspects of auditory processing. We conducted a study of 16 young people with specific language impairment (SLI) and 16 control participants, 24 of whom had had auditory event-related potentials (ERPs) and frequency discrimination thresholds assessed 18 months previously. When originally assessed, around one third of the listeners with SLI had poor behavioural frequency discrimination thresholds, and these tended to be the younger participants. However, most of the SLI group had age-inappropriate late components of the auditory ERP, regardless of their frequency discrimination. At follow-up, the behavioural thresholds of those with poor frequency discrimination improved, though some remained outside the control range. At follow-up, ERPs for many of the individuals in the SLI group were still not age-appropriate. In several cases, waveforms of individuals in the SLI group resembled those of younger typically-developing children, though in other cases the waveform was unlike that of control cases at any age. Electrophysiological methods may reveal underlying immaturity or other abnormality of auditory processing even when behavioural thresholds look normal. This study emphasises the variability seen in SLI, and the importance of studying individual cases rather than focusing on group means. PMID:15871598

Employing static excitation control and tie line reactance to stabilize wind turbine generators

NASA Technical Reports Server (NTRS)

Hwang, H. H.; Mozeico, H. V.; Guo, T.

1978-01-01

An analytical representation of a wind turbine generator is presented which employs blade pitch angle feedback control. A mathematical model was formulated. With the functioning MOD-0 wind turbine serving as a practical case study, results of computer simulations of the model as applied to the problem of dynamic stability at rated load are also presented. The effect of the tower shadow was included in the input to the system. Different configurations of the drive train, and optimal values of the tie line reactance were used in the simulations. Computer results revealed that a static excitation control system coupled with optimal values of the tie line reactance would effectively reduce oscillations of the power output, without the use of a slip clutch.

Epidemiology of Tropical Neglected Diseases in Ecuador in the Last 20 Years

PubMed Central

Cartelle Gestal, Monica; Holban, Alina Maria; Escalante, Santiago; Cevallos, Marcelo

2015-01-01

Background Tropical and zoonotic diseases are major problems in developing countries like Ecuador. Poorly designed houses, the high proportion of isolated indigenous population and under developed infrastructure represent a fertile environment for vectors to proliferate. Control campaigns in Ecuador over the years have had varying success, depending on the disease and vectors targeted. Aims In our study we analyse the current situation of some neglected diseases in Ecuador and the efficiency of the control campaigns (by measuring changes in numbers of cases reported) that the Ecuadorian government has been running to limit the spread of these infectious and parasitic diseases. Results Our study reveals that Brucellosis, Chagas Disease, Rabies and Onchocerciasis have been controlled, but small outbreaks are still detected in endemic areas. Leptospirosis and Echinococcosis have been increasing steadily in recent years in Ecuador since the first records. The same increase has been reported world-wide also. Better diagnosis has resulted in a higher number of cases being identified, particularly with regard to the linking of outdoor activities and contact with farm animals as contributing vectors. Improvements in diagnosis are due to regular professional training, implementation of automatized systems, establishing diagnosis protocols and the creation of an epidemiological vigilance network that acts as soon as a case is reported. Conclusion Control campaigns performed in Ecuador have been successful in recent years, although natural phenomena limit their efficiency. Leptospirosis and Echinococcosis infections remain a growing problem in Ecuador as it is worldwide. PMID:26394405

Epidemiology of Tropical Neglected Diseases in Ecuador in the Last 20 Years.

PubMed

Cartelle Gestal, Monica; Holban, Alina Maria; Escalante, Santiago; Cevallos, Marcelo

2015-01-01

Tropical and zoonotic diseases are major problems in developing countries like Ecuador. Poorly designed houses, the high proportion of isolated indigenous population and under developed infrastructure represent a fertile environment for vectors to proliferate. Control campaigns in Ecuador over the years have had varying success, depending on the disease and vectors targeted. In our study we analyse the current situation of some neglected diseases in Ecuador and the efficiency of the control campaigns (by measuring changes in numbers of cases reported) that the Ecuadorian government has been running to limit the spread of these infectious and parasitic diseases. Our study reveals that Brucellosis, Chagas Disease, Rabies and Onchocerciasis have been controlled, but small outbreaks are still detected in endemic areas. Leptospirosis and Echinococcosis have been increasing steadily in recent years in Ecuador since the first records. The same increase has been reported world-wide also. Better diagnosis has resulted in a higher number of cases being identified, particularly with regard to the linking of outdoor activities and contact with farm animals as contributing vectors. Improvements in diagnosis are due to regular professional training, implementation of automatized systems, establishing diagnosis protocols and the creation of an epidemiological vigilance network that acts as soon as a case is reported. Control campaigns performed in Ecuador have been successful in recent years, although natural phenomena limit their efficiency. Leptospirosis and Echinococcosis infections remain a growing problem in Ecuador as it is worldwide.

Salivary and Urinary Total Antioxidant Capacity as Biomarkers of Oxidative Stress in Humans

PubMed Central

Peluso, Ilaria; Raguzzini, Anna

2016-01-01

Total Antioxidant Capacity (TAC) is a biomarker often used in order to investigate oxidative stress in many pathological conditions. Saliva and urine can be collected noninvasively and represent attractive diagnostic fluids for detecting biomarkers of various pathological conditions. The reviewed case-control and intervention studies that measured salivary or urinary TAC revealed that diseases, antioxidant foods, or supplements and age, gender, and lifestyle factors influenced salivary or urinary TAC. Salivary and urinary TAC were particularly affected by oral or renal status, respectively, as well as by infection; therefore these factors must be taken into account in both case-control and intervention studies. Furthermore, some considerations on sample collection and normalization strategies could be made. In particular, unstimulated saliva could be the better approach to measure salivary TAC, whereas 24 h or spontaneous urine collection should be chosen on the basis of the study outcome and of the creatinine clearance. Finally, the uric acid-independent TAC could be the better approach to evaluate red-ox status of body, in particular after nutritional interventions and in diseases associated with hyperuricaemia. PMID:26966611

Cross-cancer genome-wide analysis of lung, ovary, breast, prostate and colorectal cancer reveals novel pleiotropic associations

PubMed Central

Fehringer, Gordon; Kraft, Peter; Pharoah, Paul D.; Eeles, Rosalind A.; Chatterjee, Nilanjan; Schumacher, Fred; Schildkraut, Joellen; Lindström, Sara; Brennan, Paul; Bickeböller, Heike; Houlston, Richard S.; Landi, Maria Teresa; Caporaso, Neil; Risch, Angela; Olama, Ali Amin Al; Berndt, Sonja I; Giovannucci, Edward; Grönberg, Henrik; Kote-Jarai, Zsofia; Ma, Jing; Muir, Kenneth; Stampfer, Meir; Stevens, Victoria L.; Wiklund, Fredrik; Willett, Walter; Goode, Ellen L.; Permuth, Jennifer; Risch, Harvey A.; Reid, Brett M.; Bezieau, Stephane; Brenner, Hermann; Chan, Andrew T.; Chang-Claude, Jenny; Hudson, Thomas J.; Kocarnik, Jonathan K.; Newcomb, Polly A.; Schoen, Robert E.; Slattery, Martha L.; White, Emily; Adank, Muriel A.; Ahsan, Habibul; Aittomäki, Kristiina; Baglietto, Laura; Blomquist, Carl; Canzian, Federico; Czene, Kamila; dos-Santos-Silva, Isabel; Eliassen, A. Heather; Figueroa, Jonine; Flesch-Janys, Dieter; Fletcher, Olivia; Garcia-Closas, Montserrat; Gaudet, Mia M.; Johnson, Nichola; Hall, Per; Hazra, Aditi; Hein, Rebecca; Hofman, Albert; Hopper, John L.; Irwanto, Astrid; Johansson, Mattias; Kaaks, Rudolf; Kibriya, Muhammad G.; Lichtner, Peter; Liu, Jianjun; Lund, Eiliv; Makalic, Enes; Meindl, Alfons; Müller-Myhsok, Bertram; Muranen, Taru A.; Nevanlinna, Heli; Peeters, Petra H.; Peto, Julian; Prentice, Ross L.; Rahman, Nazneen; Sanchez, Maria Jose; Schmidt, Daniel F.; Schmutzler, Rita K.; Southey, Melissa C.; Tamimi, Rulla; Travis, Ruth C.; Turnbull, Clare; Uitterlinden, Andre G.; Wang, Zhaoming; Whittemore, Alice S.; Yang, Xiaohong R.; Zheng, Wei; Rafnar, Thorunn; Gudmundsson, Julius; Stacey, Simon N.; Stefansson, Kari; Sulem, Patrick; Chen, Y. Ann; Tyrer, Jonathan P.; Christiani, David C.; Wei, Yongyue; Shen, Hongbing; Hu, Zhibin; Shu, Xiao-Ou; Shiraishi, Kouya; Takahashi, Atsushi; Bossé, Yohan; Obeidat, Ma’en; Nickle, David; Timens, Wim; Freedman, Matthew L.; Li, Qiyuan; Seminara, Daniela; Chanock, Stephen J.; Gong, Jian; Peters, Ulrike; Gruber, Stephen B.; Amos, Christopher I.; Sellers, Thomas A.; Easton, Douglas F.; Hunter, David J.; Haiman, Christopher A.; Henderson, Brian E.; Hung, Rayjean J.

2016-01-01

Identifying genetic variants with pleiotropic associations can uncover common pathways influencing multiple cancers. We took a two-staged approach to conduct genome-wide association studies for lung, ovary, breast, prostate and colorectal cancer from the GAME-ON/GECCO Network (61,851 cases, 61,820 controls) to identify pleiotropic loci. Findings were replicated in independent association studies (55,789 cases, 330,490 controls). We identified a novel pleiotropic association at 1q22 involving breast and lung squamous cell carcinoma, with eQTL analysis showing an association with ADAM15/THBS3 gene expression in lung. We also identified a known breast cancer locus CASP8/ALS2CR12 associated with prostate cancer, a known cancer locus at CDKN2B-AS1 with different variants associated with lung adenocarcinoma and prostate cancer and confirmed the associations of a breast BRCA2 locus with lung and serous ovarian cancer. This is the largest study to date examining pleiotropy across multiple cancer-associated loci, identifying common mechanisms of cancer development and progression. PMID:27197191

Iron and Vitamin D Levels among Autism Spectrum Disorders Children

PubMed Central

Bener, Abdulbari; Khattab, Azhar O.; Bhugra, Dinesh; Hoffmann, Georg F.

2017-01-01

Aim: The aim of this study was to investigate iron deficiency anemia and Vitamin D deficiency among autism children and to assess the importance of risk factors (determinants). Subjects and Methods: This was a case–control study conducted among children suffering from autism at the Hamad Medical Corporation in Qatar. A total of 308 cases and equal number of controls were enrolled. The Autism Diagnostic Observation Schedule-Generic was the instrument used for diagnosis of Autism. Results: The mean age (±standard deviation, in years) for autistic versus control children was 5.39 ± 1.66 versus 5.62 ± 1.81, respectively. The mean value of serum iron levels in autistic children was severely reduced and significantly lower than in control children (74.13 ± 21.61 μg/dL with a median 74 in autistic children 87.59 ± 23.36 μg/dL in controls) (P = 0.003). Similarly, the study revealed that Vitamin D deficiency was considerably more common among autistic children (18.79 ± 8.35 ng/mL) as compared to healthy children (22.18 ± 9.00 ng/mL) (P = 0.004). Finally, mean values of hemoglobin, ferritin, magnesium; potassium, calcium; phosphorous; glucose, alkaline phosphate, hematocrit, white blood cell, and mean corpuscular volume were all statistically significantly higher in healthy control children as compared to autistic children (P < 0.001). Multivariate logistic regression analysis revealed that serum iron deficiency, serum calcium levels, serum Vitamin D levels; ferritin, reduced physical activity; child order, body mass index percentiles, and parental consanguinity can all be considered strong predictors and major factors associated with autism spectrum disorders. Conclusion: This study suggests that deficiency of iron and Vitamin D as well as anemia were more common in autistic compared to control children. PMID:29063903

Spatial Distribution of the Risk of Dengue and the Entomological Indicators in Sumaré, State of São Paulo, Brazil

PubMed Central

Barbosa, Gerson Laurindo; Donalísio, Maria Rita; Stephan, Celso; Lourenço, Roberto Wagner; Andrade, Valmir Roberto; Arduino, Marylene de Brito; de Lima, Virgilia Luna Castor

2014-01-01

Dengue fever is a major public health problem worldwide, caused by any of four virus (DENV-1, DENV-2, DENV-3 and DENV-4; Flaviviridae: Flavivirus), transmitted by Aedes aegypti mosquito. Reducing the levels of infestation by A. aegypti is one of the few current strategies to control dengue fever. Entomological indicators are used by dengue national control program to measure the infestation of A. aegypti, but little is known about predictive power of these indicators to measure dengue risk. In this spatial case-control study, we analyzed the spatial distribution of the risk of dengue and the influence of entomological indicators of A. aegypti in its egg, larva-pupa and adult stages occurring in a mid-size city in the state of São Paulo. The dengue cases were those confirmed by the city's epidemiological surveillance system and the controls were obtained through random selection of points within the perimeter of the inhabited area. The values of the entomological indicators were extrapolated for the entire study area through the geostatistical ordinary kriging technique. For each case and control, the respective indicator values were obtained, according with its geographical coordinates and analyzed by using a generalized additive model. Dengue incidence demonstrated a seasonal behavior, as well as the entomological indicators of all mosquito's evolutionary stages. The infestation did not present a significant variation in intensity and was not a limiting or determining factor of the occurrence of cases in the municipality. The risk maps of the disease from crude and adjusted generalized additive models did not present differences, suggesting that areas with the highest values of entomological indicators were not associated with the incidence of dengue. The inclusion of other variables in the generalized additive models may reveal the modulatory effect for the risk of the disease, which is not found in this study. PMID:24831806

Risk factors associated with overweight and obesity among urban school children and adolescents in Bangladesh: a case-control study.

PubMed

Bhuiyan, Mejbah Uddin; Zaman, Shahaduz; Ahmed, Tahmeed

2013-05-08

Childhood obesity has become an emerging urban health problem in urban cities in Bangladesh, particularly in affluent families. Risk factors for obesity in this context have not been explored yet. The objective of this study was to identify the risk factors associated with overweight and obesity among school children and adolescents in Dhaka, Bangladesh. From October through November 2007, we conducted a case-control study among children aged 10-15 years in seven schools in Dhaka. We assessed body mass index (weight in kg/height in sq. meter) to identify the cases (overweight/obese) and controls (healthy/normal weight) following the Centers for Disease Control and Prevention age and sex specific growth chart. We used a structured questionnaire to collect demographic information and respondent's exposure to several risk factors such as daily physical activity at home and in school, hours spent on computer games and television watching, maternal education level and parents' weight and height. We enrolled 198 children: 99 cases, 99 controls. Multiple logistic regression analysis revealed that having at least one overweight parent (OR = 2.8, p = 0.001) and engaging in sedentary activities for >4 hours a day (OR = 2.0, p = 0.02) were independent risk factors for childhood overweight and/or obesity while exercising ≥ 30 minutes a day at home was a protective factor (OR = 0.4, p = 0.02). There were no significant associations between childhood overweight and sex, maternal education or physical activity at school. Having overweight parents along with limited exercise and high levels of sedentary activities lead to obesity among school children in urban cities in Bangladesh. Public health programs are needed to increase awareness on risk factors for overweight and obesity among children and adolescents in order to reduce the future burden of obesity-associated chronic diseases.

Spatial distribution of the risk of dengue and the entomological indicators in Sumaré, state of São Paulo, Brazil.

PubMed

Barbosa, Gerson Laurindo; Donalísio, Maria Rita; Stephan, Celso; Lourenço, Roberto Wagner; Andrade, Valmir Roberto; Arduino, Marylene de Brito; de Lima, Virgilia Luna Castor

2014-05-01

Dengue fever is a major public health problem worldwide, caused by any of four virus (DENV-1, DENV-2, DENV-3 and DENV-4; Flaviviridae: Flavivirus), transmitted by Aedes aegypti mosquito. Reducing the levels of infestation by A. aegypti is one of the few current strategies to control dengue fever. Entomological indicators are used by dengue national control program to measure the infestation of A. aegypti, but little is known about predictive power of these indicators to measure dengue risk. In this spatial case-control study, we analyzed the spatial distribution of the risk of dengue and the influence of entomological indicators of A. aegypti in its egg, larva-pupa and adult stages occurring in a mid-size city in the state of São Paulo. The dengue cases were those confirmed by the city's epidemiological surveillance system and the controls were obtained through random selection of points within the perimeter of the inhabited area. The values of the entomological indicators were extrapolated for the entire study area through the geostatistical ordinary kriging technique. For each case and control, the respective indicator values were obtained, according with its geographical coordinates and analyzed by using a generalized additive model. Dengue incidence demonstrated a seasonal behavior, as well as the entomological indicators of all mosquito's evolutionary stages. The infestation did not present a significant variation in intensity and was not a limiting or determining factor of the occurrence of cases in the municipality. The risk maps of the disease from crude and adjusted generalized additive models did not present differences, suggesting that areas with the highest values of entomological indicators were not associated with the incidence of dengue. The inclusion of other variables in the generalized additive models may reveal the modulatory effect for the risk of the disease, which is not found in this study.

Deconstructing the smoking-preeclampsia paradox through a counterfactual framework.

PubMed

Luque-Fernandez, Miguel Angel; Zoega, Helga; Valdimarsdottir, Unnur; Williams, Michelle A

2016-06-01

Although smoking during pregnancy may lead to many adverse outcomes, numerous studies have reported a paradoxical inverse association between maternal cigarette smoking during pregnancy and preeclampsia. Using a counterfactual framework we aimed to explore the structure of this paradox as being a consequence of selection bias. Using a case-control study nested in the Icelandic Birth Registry (1309 women), we show how this selection bias can be explored and corrected for. Cases were defined as any case of pregnancy induced hypertension or preeclampsia occurring after 20 weeks' gestation and controls as normotensive mothers who gave birth in the same year. First, we used directed acyclic graphs to illustrate the common bias structure. Second, we used classical logistic regression and mediation analytic methods for dichotomous outcomes to explore the structure of the bias. Lastly, we performed both deterministic and probabilistic sensitivity analysis to estimate the amount of bias due to an uncontrolled confounder and corrected for it. The biased effect of smoking was estimated to reduce the odds of preeclampsia by 28 % (OR 0.72, 95 %CI 0.52, 0.99) and after stratification by gestational age at delivery (<37 vs. ≥37 gestation weeks) by 75 % (OR 0.25, 95 %CI 0.10, 0.68). In a mediation analysis, the natural indirect effect showed and OR > 1, revealing the structure of the paradox. The bias-adjusted estimation of the smoking effect on preeclampsia showed an OR of 1.22 (95 %CI 0.41, 6.53). The smoking-preeclampsia paradox appears to be an example of (1) selection bias most likely caused by studying cases prevalent at birth rather than all incident cases from conception in a pregnancy cohort, (2) omitting important confounders associated with both smoking and preeclampsia (preventing the outcome to develop) and (3) controlling for a collider (gestation weeks at delivery). Future studies need to consider these aspects when studying and interpreting the association between smoking and pregnancy outcomes.

Shared Genetic Risk Factors of Intracranial, Abdominal, and Thoracic Aneurysms.

PubMed

van 't Hof, Femke N G; Ruigrok, Ynte M; Lee, Cue Hyunkyu; Ripke, Stephan; Anderson, Graig; de Andrade, Mariza; Baas, Annette F; Blankensteijn, Jan D; Böttinger, Erwin P; Bown, Matthew J; Broderick, Joseph; Bijlenga, Philippe; Carrell, David S; Crawford, Dana C; Crosslin, David R; Ebeling, Christian; Eriksson, Johan G; Fornage, Myriam; Foroud, Tatiana; von Und Zu Fraunberg, Mikael; Friedrich, Christoph M; Gaál, Emília I; Gottesman, Omri; Guo, Dong-Chuan; Harrison, Seamus C; Hernesniemi, Juha; Hofman, Albert; Inoue, Ituro; Jääskeläinen, Juha E; Jones, Gregory T; Kiemeney, Lambertus A L M; Kivisaari, Riku; Ko, Nerissa; Koskinen, Seppo; Kubo, Michiaki; Kullo, Iftikhar J; Kuivaniemi, Helena; Kurki, Mitja I; Laakso, Aki; Lai, Dongbing; Leal, Suzanne M; Lehto, Hanna; LeMaire, Scott A; Low, Siew-Kee; Malinowski, Jennifer; McCarty, Catherine A; Milewicz, Dianna M; Mosley, Thomas H; Nakamura, Yusuke; Nakaoka, Hirofumi; Niemelä, Mika; Pacheco, Jennifer; Peissig, Peggy L; Pera, Joanna; Rasmussen-Torvik, Laura; Ritchie, Marylyn D; Rivadeneira, Fernando; van Rij, Andre M; Santos-Cortez, Regie Lyn P; Saratzis, Athanasios; Slowik, Agnieszka; Takahashi, Atsushi; Tromp, Gerard; Uitterlinden, André G; Verma, Shefali S; Vermeulen, Sita H; Wang, Gao T; Han, Buhm; Rinkel, Gabriël J E; de Bakker, Paul I W

2016-07-14

Intracranial aneurysms (IAs), abdominal aortic aneurysms (AAAs), and thoracic aortic aneurysms (TAAs) all have a familial predisposition. Given that aneurysm types are known to co-occur, we hypothesized that there may be shared genetic risk factors for IAs, AAAs, and TAAs. We performed a mega-analysis of 1000 Genomes Project-imputed genome-wide association study (GWAS) data of 4 previously published aneurysm cohorts: 2 IA cohorts (in total 1516 cases, 4305 controls), 1 AAA cohort (818 cases, 3004 controls), and 1 TAA cohort (760 cases, 2212 controls), and observed associations of 4 known IA, AAA, and/or TAA risk loci (9p21, 18q11, 15q21, and 2q33) with consistent effect directions in all 4 cohorts. We calculated polygenic scores based on IA-, AAA-, and TAA-associated SNPs and tested these scores for association to case-control status in the other aneurysm cohorts; this revealed no shared polygenic effects. Similarly, linkage disequilibrium-score regression analyses did not show significant correlations between any pair of aneurysm subtypes. Last, we evaluated the evidence for 14 previously published aneurysm risk single-nucleotide polymorphisms through collaboration in extended aneurysm cohorts, with a total of 6548 cases and 16 843 controls (IA) and 4391 cases and 37 904 controls (AAA), and found nominally significant associations for IA risk locus 18q11 near RBBP8 to AAA (odds ratio [OR]=1.11; P=4.1×10(-5)) and for TAA risk locus 15q21 near FBN1 to AAA (OR=1.07; P=1.1×10(-3)). Although there was no evidence for polygenic overlap between IAs, AAAs, and TAAs, we found nominally significant effects of two established risk loci for IAs and TAAs in AAAs. These two loci will require further replication. © 2016 The Authors. Published on behalf of the American Heart Association, Inc., by Wiley Blackwell.

THE SIGNIFICANCE OF LESIONS IN PERIPHERAL GANGLIA IN CHIMPANZEE AND IN HUMAN POLIOMYELITIS

PubMed Central

Bodian, David; Howe, Howard A.

1947-01-01

1. The peripheral ganglia of eighteen inoculated chimpanzees and thirteen uninoculated controls, and of eighteen fatal human poliomyelitis cases, were studied for histopathological evidence of the route of transmission of virus from the alimentary tract to the CNS. 2. Lesions thought to be characteristic of poliomyelitis in inoculated chimpanzees could not be sharply differentiated from lesions of unknown origin in uninoculated control animals. Moreover, although the inoculated animals as a group, in comparison with the control animals, had a greater number of infiltrative lesions in sympathetic as well as in sensory ganglia, it was not possible to make satisfactory correlations between the distribution of these lesions and the routes of inoculation. 3. In sharp contrast with chimpanzees, the celiac and stellate ganglia of the human poliomyelitis cases were free of any but insignificant infiltrative lesions. Lesions in human trigeminal and spinal sensory ganglia included neuronal damage as well as focal and perivascular inflitrative lesions, as is well known. In most ganglia, as in monkey and chimpanzee sensory ganglia, these were correlated in intensify with the degree of severity of lesions in the region of the CNS receiving their axons. This suggested that lesions in sensory ganglia probably resulted from spread of virus centrifugally from the CNS, in accord with considerable experimental evidence. 4. Two principal difficulties in the interpretation of histopathological findings in peripheral ganglia were revealed by this study. The first is that the specificity of lesions in sympathetic ganglia has not been established beyond doubt as being due to poliomyelitis. The second is that the presence of characteristic lesions in sensory ganglia does not, and cannot, reveal whether the virus reached the ganglia from the periphery or from the central nervous system, except in very early preparalytic stages or in exceptional cases of early arrest of virus spread and of lesion production. PMID:19871611

Expression of heat shock proteins (hsp) 27 and 70 in various organ systems in cases of death due to fire.

PubMed

Doberentz, E; Genneper, L; Böker, D; Lignitz, E; Madea, B

2014-11-01

The expression of heat shock proteins (hsp) increases in case of variable types of endogenous and exogenous cellular stress, as for example thermal stress. Immunohistochemical staining with hsp antibodies can visualize these stress proteins. Fifty-three cases of death due to heat and a control group of 100 deaths without any antemortem thermic stress were examined regarding hsp27 and hsp70 expression in myocardial, pulmonary, and renal tissues. The results revealed a correlation between hsp expression, survival time, and cause of death. In cases of death due to fire, the expression of hsp is more extensive than in the control group, especially in pulmonary and renal tissues. The immunohistochemical investigation of an hsp expression can support the proof of vitality in cases of death related to fire.

The effect of bottom boundary condition type on the behavior of adhesive contact of spherical probe on an elastic film

NASA Astrophysics Data System (ADS)

Zhu, X.; Xu, W.

2017-11-01

This study presents an investigation on the behavior of adhesive contact between a rigid sphere and an elastic film which is either perfectly bonded (case I) or in frictionless contact (case II) with a rigid substrate. By using linear fracture mechanics, we formulate an convenient semi-analytical approach to develop relations between the applied force, penetration depth and contact radius. Finite element analysis (FEA) is used to verify the relationships. Our results reveal that the interfacial boundary conditions between the film and substrate have distinct effects on the adhesive contact behavior between the sphere and the film. The aim of the present study is to provide an instructive inspiration for controlling adhesion strength of the thin film subject to adhesive contact.

GWAS of clinically defined gout and subtypes identifies multiple susceptibility loci that include urate transporter genes.

PubMed

Nakayama, Akiyoshi; Nakaoka, Hirofumi; Yamamoto, Ken; Sakiyama, Masayuki; Shaukat, Amara; Toyoda, Yu; Okada, Yukinori; Kamatani, Yoichiro; Nakamura, Takahiro; Takada, Tappei; Inoue, Katsuhisa; Yasujima, Tomoya; Yuasa, Hiroaki; Shirahama, Yuko; Nakashima, Hiroshi; Shimizu, Seiko; Higashino, Toshihide; Kawamura, Yusuke; Ogata, Hiraku; Kawaguchi, Makoto; Ohkawa, Yasuyuki; Danjoh, Inaho; Tokumasu, Atsumi; Ooyama, Keiko; Ito, Toshimitsu; Kondo, Takaaki; Wakai, Kenji; Stiburkova, Blanka; Pavelka, Karel; Stamp, Lisa K; Dalbeth, Nicola; Sakurai, Yutaka; Suzuki, Hiroshi; Hosoyamada, Makoto; Fujimori, Shin; Yokoo, Takashi; Hosoya, Tatsuo; Inoue, Ituro; Takahashi, Atsushi; Kubo, Michiaki; Ooyama, Hiroshi; Shimizu, Toru; Ichida, Kimiyoshi; Shinomiya, Nariyoshi; Merriman, Tony R; Matsuo, Hirotaka

2017-05-01

A genome-wide association study (GWAS) of gout and its subtypes was performed to identify novel gout loci, including those that are subtype-specific. Putative causal association signals from a GWAS of 945 clinically defined gout cases and 1213 controls from Japanese males were replicated with 1396 cases and 1268 controls using a custom chip of 1961 single nucleotide polymorphisms (SNPs). We also first conducted GWASs of gout subtypes. Replication with Caucasian and New Zealand Polynesian samples was done to further validate the loci identified in this study. In addition to the five loci we reported previously, further susceptibility loci were identified at a genome-wide significance level (p<5.0×10 -8 ): urate transporter genes ( SLC22A12 and SLC17A1 ) and HIST1H2BF-HIST1H4E for all gout cases, and NIPAL1 and FAM35A for the renal underexcretion gout subtype. While NIPAL1 encodes a magnesium transporter, functional analysis did not detect urate transport via NIPAL1, suggesting an indirect association with urate handling. Localisation analysis in the human kidney revealed expression of NIPAL1 and FAM35A mainly in the distal tubules, which suggests the involvement of the distal nephron in urate handling in humans. Clinically ascertained male patients with gout and controls of Caucasian and Polynesian ancestries were also genotyped, and FAM35A was associated with gout in all cases. A meta-analysis of the three populations revealed FAM35A to be associated with gout at a genome-wide level of significance (p meta =3.58×10 -8 ). Our findings including novel gout risk loci provide further understanding of the molecular pathogenesis of gout and lead to a novel concept for the therapeutic target of gout/hyperuricaemia. 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/.

Numerical analysis of wall shear stress in ascending aorta before tearing in type A aortic dissection.

PubMed

Chi, Qingzhuo; He, Ying; Luan, Yong; Qin, Kairong; Mu, Lizhong

2017-10-01

Although the incidence of many cardiovascular diseases has declined as medical treatments have improved, the prevalence of aortic dissection (AD) has increased. Compared to type B dissections, type A dissections are more severe, and most patients with type A dissections require surgical treatment. The objective of this study was to investigate the relationships between the wall shear stress (WSS) on the aortic endothelium and the frequent tearing positions using computational fluid dynamics. Five type A dissection cases and two normal aortas were included in the study. First, the structures of the aortas before the type A dissection were reconstructed on the basis of the original imaging data. Analyses of flow in the reconstructed premorbid structures reveals that the rupture positions in three of the five cases corresponded to the area of maximum elevated WSS. Moreover, the WSS at the junction of the aortic arch and descending aorta was found to be elevated, which is considered to be related to the locally disturbed helical flow. Meanwhile, the highest WSS in the patients with premorbid AD was found to be almost double that of the control group. Due to the noticeable morphological differences between the AD cases and the control group, the WSSs in the premorbid structures without vasodilation in the ascending part were estimated. The computational results revealed that the WSS was lower in the aorta without vasodilation, but the pressure drop in this situation was higher than that with vasodilation in the ascending aorta. Significant differences were seen between the AD cases and the control group in the angles of the side branches of the aortic arch and its bending degree. Dilation of the ascending aorta and alterations in the branching angles may be the key determinants of a high WSS that leads to type A dissection. Greater tortuosity of the aortic arch leads to stronger helical flow through the distal aortic arch, which may be related to tears in this region. Copyright © 2017 Elsevier Ltd. All rights reserved.

A Missense Variant in KCNJ10 in Belgian Shepherd Dogs Affected by Spongy Degeneration with Cerebellar Ataxia (SDCA1).

PubMed

Mauri, Nico; Kleiter, Miriam; Leschnik, Michael; Högler, Sandra; Dietschi, Elisabeth; Wiedmer, Michaela; Dietrich, Joëlle; Henke, Diana; Steffen, Frank; Schuller, Simone; Gurtner, Corinne; Stokar-Regenscheit, Nadine; O'Toole, Donal; Bilzer, Thomas; Herden, Christiane; Oevermann, Anna; Jagannathan, Vidhya; Leeb, Tosso

2017-02-09

Spongy degeneration with cerebellar ataxia (SDCA) is a severe neurodegenerative disease with monogenic autosomal recessive inheritance in Malinois dogs, one of the four varieties of the Belgian Shepherd breed. We performed a genetic investigation in six families and seven isolated cases of Malinois dogs with signs of cerebellar dysfunction. Linkage analysis revealed an unexpected genetic heterogeneity within the studied cases. The affected dogs from four families and one isolated case shared a ∼1.4 Mb common homozygous haplotype segment on chromosome 38. Whole genome sequence analysis of three affected and 140 control dogs revealed a missense variant in the KCNJ10 gene encoding a potassium channel (c.986T>C; p.Leu329Pro). Pathogenic variants in KCNJ10 were reported previously in humans, mice, and dogs with neurological phenotypes. Therefore, we consider KCNJ10 :c.986T>C the most likely candidate causative variant for one subtype of SDCA in Malinois dogs, which we propose to term spongy degeneration with cerebellar ataxia 1 (SDCA1). However, our study also comprised samples from 12 Malinois dogs with cerebellar dysfunction which were not homozygous for this variant, suggesting a different genetic basis in these dogs. A retrospective detailed clinical and histopathological analysis revealed subtle neuropathological differences with respect to SDCA1-affected dogs. Thus, our study highlights the genetic and phenotypic complexity underlying cerebellar dysfunction in Malinois dogs and provides the basis for a genetic test to eradicate one specific neurodegenerative disease from the breeding population. These dogs represent an animal model for the human EAST syndrome. Copyright © 2017 Mauri et al.

Life course body mass index and risk and prognosis of amyotrophic lateral sclerosis: results from the ALS registry Swabia.

PubMed

Peter, Raphael Simon; Rosenbohm, Angela; Dupuis, Luc; Brehme, Torben; Kassubek, Jan; Rothenbacher, Dietrich; Nagel, Gabriele; Ludolph, Albert Christian

2017-10-01

Weight loss appears as a strong predictor of survival of patients with amyotrophic lateral sclerosis, yet no data are currently available to describe the life course history of pre-diagnostic body mass index (BMI) in these patients. 393 ALS cases (mean age: 65.8 years, 57.3% men) and 791 controls matched by age and sex from a population-based case-control study of the ALS Registry Swabia were analyzed. Differences of BMI change in cases and controls over time were modeled using a multilevel additive model. In addition, survival in ALS cases by BMI change was modeled using an accelerated failure time model adjusted for prognostic factors. In ALS cases, BMI was consistently higher than in controls in the 20-70 years before the interview. Conditional logistic regression revealed an odds ratio of 1.05 (95% confidence interval (CI) 1.00-1.11, p = 0.041) per 1 kg/m 2 higher BMI 35-45 years before interview. However, a sharp decrease was evident in the BMI of ALS cases about 10 years before disease onset. Moreover, weight loss was strongly associated with shorter survival in ALS patients. Illustrating this, patients with stable weight showed a median survival time of 22.1 (95%-CI 19.2-25.0) months, as compared to 13.4 (95%-CI 10.5-16.3) months for patients with weight loss of 2.5 kg/m 2 over the last 3 months before the interview. Thus, alterations in body weight are present in ALS patients already decades before clinical manifestation of ALS, while weight loss precedes motor symptoms of several years and is associated with poor prognosis.

Usefulness of triglycerides-to-high-density lipoprotein cholesterol ratio for predicting the first coronary event in men.

PubMed

Cordero, Alberto; Andrés, Eva; Ordoñez, Beatriz; León, Montserrat; Laclaustra, Martín; Grima, Alberto; Luengo, Emilio; Moreno, José; Bes, María; Pascual, Isaac; Civeira, Fernando; Pocoví, Miguel; Alegría, Eduardo; Casasnovas, José A

2009-11-15

Overweight and obesity potentiate the development of cardiovascular risk factors but many doubts have arisen recently regarding their role in coronary events. We evaluated the predictive value of a surrogate maker of insulin resistance, the ratio of triglyceride (TG) to high-density lipoprotein (HDL), for the incidence of a first coronary event in men workers according to body mass index (BMI). We designed a case-control study of active subjects collected from a single factory through their annual health examination and medical reports. Case subjects included those with myocardial infarction, unstable angina pectoris, or subclinical myocardial ischemia detected through electrocardiographic abnormalities. The sample was constituted by 208 case and 2,080 control subjects (mean age 49.9 years, 49.6 to 50.2). General characteristics of case and control subjects were well matched. The TG/HDL ratio was significantly higher in case subjects compared to controls. Stratification of the sample revealed an increasing prevalence of case subjects and mean TG/HDL in each category of BMI. Multivariable analysis, adjusted by smoking, demonstrated that TG/HDL increased 50% the risk of a first coronary event (odds ratio [OR] 1.47, 95% confidence interval [CI] 1.26 to 1.71), whereas low-density lipoprotein cholesterol values indicated a more moderate increased risk (OR 1.01, 95% CI 1.005 to 1.012); metabolic syndrome (OR 1.76, 95% CI 0.94 to 3.30) and hypertension (OR 1.50, 95% CI 0.81 to 2.79) did not reach statistical significance. The TG/HDL ratio was associated with a first coronary event in all categories of BMI. In conclusion, the TG/HDL ratio has a high predictive value of a first coronary event regardless of BMI.

Scenario-Based Case Study Method and the Functionality of the Section Called "From Production to Consumption" from the Perspective of Primary School Students

ERIC Educational Resources Information Center

Taneri, Ahu

2018-01-01

In this research, the aim was showing the evaluation of students on scenario-based case study method and showing the functionality of the studied section called "from production to consumption". Qualitative research method and content analysis were used to reveal participants' experiences and reveal meaningful relations regarding…

Motivations behind donations for health-related organizations: Threat appraisal and coping appraisal-the case of the ALS Ice Bucket Challenge.

PubMed

Li, Jo-Yun; Wen, Jing

2017-01-01

This study explores the influence of social media involvement and other factors on individuals' donation intentions in the context of the ALS Ice Bucket Challenge. An online survey with 306 participants revealed that social media involvement had a direct effect on intentions to contribute donations and had an indirect effect that was mediated by the response efficacy on intentions after controlling for individuals' issue involvement with the disease.

Lymphocyte-dependent antibodies in uveitis.

PubMed

Pápai, I; Lehrner, J

1976-01-01

Lymphocyte-dependent antibodies were revealed in the serum of patients suffering from uveitis of various aetiologies. The serum was incubated with normal uveal tissue and the binding of non-immune human lymphocytes was investigated. In three cases of sympathetic ophthalmitis the lymphocytes accumulated around the melanine granules, while in another 17 patients with uveitis cases the lymphocytes accumulated around the capillaries. Uveal tissue incubated with control sera failed to bound lymphocytes. The lymphocytic infiltration in certain cases of chronic uveitis suggested the role of lymphocyte-mediating antibodies in the aetiology of these cases.

A rare case of primary amenorrhea with two etiologies, hypothalamic amenorrhea, transverse vaginal septum, and no hematocolpos.

PubMed

Ghaffari, Firouzeh; Keikha, Fatemeh; Arabipoor, Arezoo

2015-01-01

We reported a rare case of hypothalamic amenorrhea and transverse vaginal septum. A 28-year-old woman presented with primary amenorrhea and no complaint of abdominal pain. Laparoscopy revealed a small rudimentary uterus with streak ovaries and a vaginal pouch. The patient with diagnosis of Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome was subjected to a vaginoplasty in another fertility center. In our institute, after two courses of estrogen and progesterone, sonography revealed hematocolpos, while, under anesthesia, transverse vaginal septum was resected. Hysteroscopy revealed normal uterine cavity. She became pregnant 5 months postoperatively with controlled ovarian stimulation (COS) in conjunction with intrauterine insemination, and she has two healthy babies now. This case highlights the importance of careful evaluation of all primary amenorrheas. Clinicians should be aware of presence of more than one etiology which causes atypical presentations and accomplishes a systematic strategy for the evaluation of amenorrhea potential to avoid long-term side effects of a misdiagnosis.

A Rare Case of Primary Amenorrhea with Two Etiologies, Hypothalamic Amenorrhea, Transverse Vaginal Septum, and No Hematocolpos

PubMed Central

Ghaffari, Firouzeh; Keikha, Fatemeh; Arabipoor, Arezoo

2015-01-01

We reported a rare case of hypothalamic amenorrhea and transverse vaginal septum. A 28-year-old woman presented with primary amenorrhea and no complaint of abdominal pain. Laparoscopy revealed a small rudimentary uterus with streak ovaries and a vaginal pouch. The patient with diagnosis of Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome was subjected to a vaginoplasty in another fertility center. In our institute, after two courses of estrogen and progesterone, sonography revealed hematocolpos, while, under anesthesia, transverse vaginal septum was resected. Hysteroscopy revealed normal uterine cavity. She became pregnant 5 months postoperatively with controlled ovarian stimulation (COS) in conjunction with intrauterine insemination, and she has two healthy babies now. This case highlights the importance of careful evaluation of all primary amenorrheas. Clinicians should be aware of presence of more than one etiology which causes atypical presentations and accomplishes a systematic strategy for the evaluation of amenorrhea potential to avoid long-term side effects of a misdiagnosis. PMID:25785213

Incidental Lewy Body Disease: Clinical Comparison to a Control Cohort

PubMed Central

Adler, Charles H.; Connor, Donald J.; Hentz, Joseph G.; Sabbagh, Marwan N.; Caviness, John N.; Shill, Holly A.; Noble, Brie; Beach, Thomas G.

2010-01-01

Limited clinical information has been published on cases pathologically diagnosed with incidental Lewy body disease (ILBD). Standardized, longitudinal movement and cognitive data was collected on a cohort of subjects enrolled in the Sun Health Research Institute Brain and Body Donation Program. Of 277 autopsied subjects who had antemortem clinical evaluations within the previous 3 years, 76 did not have Parkinson’s disease, a related disorder, or dementia of which 15 (20%) had ILBD. Minor extrapyramidal signs were common in subjects with and without ILBD. Cognitive testing revealed an abnormality in the ILBD group in the Trails B test only. ILBD cases had olfactory dysfunction; however, sample size was very small. This preliminary report revealed ILBD cases have movement and cognitive findings that for the most part were not out of proportion to similarly assessed and age-similar cases without Lewy bodies. Larger sample size is needed to have the power to better assess group differences. PMID:20175211

Exome sequencing supports a de novo mutational paradigm for schizophrenia

PubMed Central

Xu, Bin; Roos, J. Louw; Dexheimer, Phillip; Boone, Braden; Plummer, Brooks; Levy, Shawn; Gogos, Joseph A.; Karayiorgou, Maria

2011-01-01

Despite high heritability, a large fraction of cases with schizophrenia do not have a family history of the disease (sporadic cases). Here, we examine the possibility that rare de novo protein-altering mutations contribute to the genetic component of schizophrenia by sequencing the exome of 53 sporadic cases, 22 unaffected controls and their parents. We identified 40 de novo mutations in 27 patients affecting 40 genes including a potentially disruptive mutation in DGCR2, a gene removed by the recurrent schizophrenia-predisposing 22q11.2 microdeletion. Comparison to rare inherited variants revealed that the identified de novo mutations show a large excess of nonsynonymous changes in cases, as well as a greater potential to affect protein structure and function. Our analysis reveals a major role of de novo mutations in schizophrenia and also a large mutational target, which together provide a plausible explanation for the high global incidence and persistence of the disease. PMID:21822266

[Anorectal Malignant Melanoma Is a Very Rare Disease and Has a Poor Prognosis].

PubMed

Yoshida, Yuta; Noura, Shingo; Matsumura, Tae; Hirota, Masaki; Shuto, Takashi; Muratsu, Arisa; Yasuyama, Harunobu; Takata, Akihiro; Koga, Chikato; Kameda, Chizu; Murakami, Masahiro; Kawabata, Ryohei; Shimizu, Junzo; Miwa, Hideaki; Hasegawa, Junichi

2017-11-01

We performed abdomino-perineal-resection(APR)on 2 cases of anorectal malignant melanoma. The first case was a 70- year-old woman suffering from bloody stool. Colonoscopy showed a black tumor in the rectum. Biopsy revealed a malignant melanoma. A CT scan showed multiple lung metastases and liver metastasis. She underwent surgery for the purpose of bleeding control, but died shortly thereafter because her liver and lung metastases had worsened. The second case was a 43- years-old man suffering from bloody stool. He had a black type 3 tumor in the rectum. A biopsy revealed malignant melanoma. A CT scan showed lateral lymph node swelling. He underwent APR with right side-lateral dissection. An established treatment for anorectal malignant melanoma has not been agreed upon and it is controversial. We experienced 2 cases that underwent surgery and we report them along with relevant information from the literature.

Protective effect of Naringin on experimental hindlimb ischemia/reperfusion injury in rats.

PubMed

Gürsul, Cebrail; Ekinci Akdemir, Fazile Nur; Akkoyun, Turan; Can, İsmail; Gül, Mustafa; Gülçin, İlhami

2016-01-01

This study was designed to investigate the antioxidant effects of Naringin, in ischemia/reperfusion (I/R)-induced skeletal muscle injury in rats. The rats were randomly allocated into three groups including control, I/R and I/R + Naringin groups. Muscle tissues of I/R groups revealed significantly higher antioxidant enzyme activities, and increased levels of malondialdehyde, as specific a marker of the lipid peroxidation and tissue damage, compared to the control group (p < 0.05). Levels of these parameters in muscle revealed significant reductions in the I/R + Naringin group compared to the I/R group (p < 0.05). Histopathological examination of ischemia muscles in the I/R group showed significant degeneration and inflammation compared to the control group, whereas ischemic muscles of Naringin-administered group showed significant reduction in degeneration and inflammation compared to the I/R group (p < 0.05). We suggest that the protective effect of Naringin may reduce the I/R injury in cases of extremity injuries with acute vascular complications, extremity surgery with prolonged tourniquet application.

Coffee, decaffeinated coffee, tea and cancer of the colon and rectum: a review of epidemiological studies, 1990-2003.

PubMed

Tavani, Alessandra; La Vecchia, Carlo

2004-10-01

The literature from 1990 to 2003 on the relation between coffee, decaffeinated coffee, tea and colorectal cancer risk has been reviewed. For the relation with coffee, three cohort (517 total cases) and nine case-control studies (7555 cases) analysed colon cancer; three cohort (307 cases) and four case-control studies (2704 cases) rectal cancer; six case-control studies (854 cases) colorectal cancer. For colon cancer most case-control studies found risk estimates below unity; the results are less clear for cohort studies. No relation emerged for rectal cancer. A meta-analysis, including five cohort and twelve case-control studies, reported a pooled relative risk of 0.76 (significant). Any methodological artefact is unlikely to account for the consistent inverse association in different countries and settings. Plausible biological explanations include coffee-related reductions of cholesterol, bile acids and neutral sterol secretion in the colon; antimutagenic properties of selected coffee components; increased colonic motility. Decaffeinated coffee was not related to either colon or rectal cancer in three case-control studies. No overall association between tea and either colon or rectal cancer risk emerged in seven cohort (1756 total cases of colon, 759 of rectal and 60 of colorectal cancer) and 12 case-control studies (8058 cases of colon, 4865 of rectal, 604 of colorectal cancer).

Intracellular iron overload leading to DNA damage of lymphocytes and immune dysfunction in thalassemia major patients.

PubMed

Shaw, Jyoti; Chakraborty, Ayan; Nag, Arijit; Chattopadyay, Arnab; Dasgupta, Anjan K; Bhattacharyya, Maitreyee

2017-11-01

To investigate the cause and effects of intracellular iron overload in lymphocytes of thalassemia major patients. Sixty-six thalassemia major patients having iron overload and 10 age-matched controls were chosen for the study. Blood sample was collected, and serum ferritin, oxidative stress; lymphocyte DNA damage were examined, and infective episodes were also counted. Case-control analysis revealed significant oxidative stress, iron overload, DNA damage, and rate of infections in thalassemia cases as compared to controls. For cases, oxidative stress (ROS) and iron overload (serum ferritin) showed good correlation with R 2  = 0.934 and correlation between DNA damage and ROS gave R 2  = 0.961. We also demonstrated that intracellular iron overload in thalassemia caused oxidative damage of lymphocyte DNA as exhibited by DNA damage assay. The inference is further confirmed by partial inhibition of such damage by chelation of iron and the concurrent lowering of the ROS level in the presence of chelator deferasirox. Therefore, intracellular iron overload caused DNA fragmentation, which may ultimately hamper lymphocyte function, and this may contribute to immune dysfunction and increased susceptibility to infections in thalassemia patients as indicated by the good correlation (R 2  = 0.91) between lymphocyte DNA damage and rate of infection found in this study. © 2017 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Fumonisin B1 and Risk of Hepatocellular Carcinoma in Two Chinese Cohorts

PubMed Central

Persson, E. Christina; Sewram, Vikash; Evans, Alison A.; London, W. Thomas; Volkwyn, Yvette; Shen, Yen-Ju; Van Zyl, Jacobus A.; Chen, Gang; Lin, Wenyao; Shephard, Gordon S.; Taylor, Philip R.; Fan, Jin-Hu; Dawsey, Sanford M.; Qiao, You-Lin; McGlynn, Katherine A.; Abnet, Christian C.

2011-01-01

Fumonisin B1 (FB1), a mycotoxin that contaminates corn in certain climates, has been demonstrated to cause hepatocellular cancer (HCC) in animal models. Whether a relationship between FB1 and HCC exists in humans is not known. To examine the hypothesis, we conducted case-control studies nested within two large cohorts in China; the Haimen City Cohort and the General Population Study of the Nutritional Intervention Trials cohort in Linxian. In the Haimen City Cohort, nail FB1 levels were determined in 271 HCC cases and 280 controls. In the General Population Nutritional Intervention Trial, nail FB1 levels were determined in 72 HCC cases and 147 controls. In each population, odds ratios and 95% confidence intervals (95%CI) from logistic regression models estimated the association between measurable FB1 and HCC, adjusting for hepatitis B virus infection and other factors. A meta-analysis that included both populations was also conducted. The analysis revealed no statistically significant association between FB1 and HCC in either Haimen City (OR=1.10, 95%CI=0.64–1.89) or in Linxian (OR=1.47, 95%CI=0.70–3.07). Similarly, the pooled meta-analysis showed no statistically significant association between FB1 exposure and HCC (OR=1.22, 95%CI=0.79–1.89). These findings, although somewhat preliminary, do not support an associated between FB1 and HCC. PMID:22142693

Effect of Soluble Inducible Costimulator Level and Its Polymorphisms on Age-Related Macular Degeneration

PubMed Central

Yu, Honghua; Zou, Xiulan; Peng, Lianghong; Wang, Yong; Zhang, Chu

2013-01-01

Age-related macular degeneration (AMD) is the leading cause of blindness in the elderly population. Evidence has shown that the human immune system may play critical roles in this disease. Inducible costimulator (ICOS) promotes T-cell activation, differentiation, and T:B-cell interactions. The aim of the study was to understand the effect of ICOS on the development of AMD from genetic polymorphism perspective and serum level perspective. Two ICOS polymorphisms, rs10183087A/C and rs10932037C/T, were tested in 223 AMD cases and 262 healthy controls. The serum level of soluble ICOS (sICOS) was compared among subjects with different genotypes, as well as between AMD patients and controls. Data showed that prevalence of rs10183087CC genotype was significantly increased in AMD than in controls (p=0.001). Function analysis revealed that subjects carrying rs10183087CC genotype had higher serum levels of sICOS than those with AA or AC genotypes (p<0.05). When we compared serum levels of sICOS between cases and controls, results showed that AMD patients had significantly increased sICOS levels than healthy donors (p<0.05). Also, wet type cases were observed to have higher sICOS levels than cases with dry type (p<0.05). These data suggested ICOS polymorphism could affect the susceptibility to AMD by elevating protein expression, and serum levels of sICOS may be closed correlated with the development and progression of this disease. PMID:24083358

The utility of the Kohlman Evaluation of Living Skills test is associated with substantiated cases of elder self-neglect.

PubMed

Pickens, Sabrina; Naik, Aanand D; Burnett, Jason; Kelly, P A; Gleason, Mary; Dyer, Carmel B

2007-03-01

Self-neglect is the most prevalent finding among cases reported to Adult Protective Services (APS) and is characterized by an inability to meet one's own basic needs. The Kohlman evaluation of living skills (KELS) has been validated in geriatric populations to assess performance with both instrumental and basic activities of daily living and as an assessment tool for the capacity to live independently; therefore, the purpose of this analysis was to compare the scores of the KELS between substantiated cases of self-neglect and matched community-dwelling elders. This is a cross-sectional pilot study of 50 adults aged 65 years and older who were recruited from APS as documented cases of self-neglect and 50 control participants recruited from Harris County Hospital District outpatient clinics. Control participants were matched for age, race, gender, and ZIP code. A geriatric nurse practitioner (NP)-led team administered a comprehensive geriatric assessment in homes of all study participants. The assessment included the KELS and mini-mental state examination (MMSE) tests. Chi-square analyses were used to determine if cases of self-neglect were significantly more likely to fail the KELS test than matched controls. The analyses revealed that self-neglectors were significantly more likely to fail the KELS than non-self-neglectors (50% vs. 30%, p = .025). When stratified by MMSE scores, self-neglectors with intact cognitive function remained significantly more likely to fail the KELS compared to matched, cognitively intact controls (45% vs. 17%, p = .013). Abnormal results using an in-home KELS test were significantly associated with substantiated cases of self-neglect. There is currently no gold-standard measure for identifying capacity with self-care behaviors among cases of self-neglect. As a result, self-neglect may remain unidentified in many clinical settings. The KELS provides clinicians with an objective measure of an individual's capacity and performance with everyday life-supporting tasks and thus, provides information that can help NPs identify elders at risk for self-neglect. These findings suggest that the KELS test has significant utility as part of a comprehensive geriatric assessment to aid clinicians in suspected cases of self-neglect.

Trends in spatio-temporal dynamics of visceral leishmaniasis cases in a highly-endemic focus of Bihar, India: an investigation based on GIS tools.

PubMed

Mandal, Rakesh; Kesari, Shreekant; Kumar, Vijay; Das, Pradeep

2018-04-02

Visceral leishmaniasis (VL) in Bihar State (India) continues to be endemic, despite the existence of effective treatment and a vector control program to control disease morbidity. A clear understanding of spatio-temporal distribution of VL may improve surveillance and control implementation. This study explored the trends in spatio-temporal dynamics of VL endemicity at a meso-scale level in Vaishali District, based on geographical information systems (GIS) tools and spatial statistical analysis. A GIS database was used to integrate the VL case data from the study area between 2009 and 2014. All cases were spatially linked at a meso-scale level. Geospatial techniques, such as GIS-layer overlaying and mapping, were employed to visualize and detect the spatio-temporal patterns of a VL endemic outbreak across the district. The spatial statistic Moran's I Index (Moran's I) was used to simultaneously evaluate spatial-correlation between endemic villages and the spatial distribution patterns based on both the village location and the case incidence rate (CIR). Descriptive statistics such as mean, standard error, confidence intervals and percentages were used to summarize the VL case data. There were 624 endemic villages with 2719 (average 906 cases/year) VL cases during 2012-2014. The Moran's I revealed a cluster pattern (P < 0.05) of CIR distribution at the meso-scale level. On average, 68 villages were newly-endemic each year. Of which 93.1% of villages' endemicity were found to have occurred on the peripheries of the previous year endemic villages. The mean CIR of the endemic villages that were peripheral to the following year newly-endemic villages, compared to all endemic villages of the same year, was higher (P < 0.05). The results show that the VL endemicity of new villages tends to occur on the periphery of villages endemic in the previous year. High-CIR plays a major role in the spatial dispersion of the VL cases between non-endemic and endemic villages. This information can help achieve VL elimination throughout the Indian subcontinent by improving vector control design and implementation in highly-endemic district.

Combining epidemiology and biomechanics in sports injury prevention research: a new approach for selecting suitable controls.

PubMed

Finch, Caroline F; Ullah, Shahid; McIntosh, Andrew S

2011-01-01

Several important methodological issues need to be considered when designing sports injury case-control studies. Major design goals for case-control studies include the accounting for prior injury risk exposure, and optimal definitions of both cases and suitable controls are needed to ensure this. This article reviews methodological aspects of published sports injury case-control studies, particularly with regard to the selection of controls. It argues for a new approach towards selecting controls for case-control studies that draws on an interface between epidemiological and biomechanical concepts. A review was conducted to identify sport injury case-control studies published in the peer-review literature during 1985-2008. Overall, 32 articles were identified, of which the majority related to upper or lower extremity injuries. Matching considerations were used for control selection in 16 studies. Specific mention of application of biomechanical principles in the selection of appropriate controls was absent from all studies, including those purporting to evaluate the benefits of personal protective equipment to protect against impact injury. This is a problem because it could lead to biased conclusions, as cases and controls are not fully comparable in terms of similar biomechanical impact profiles relating to the injury incident, such as site of the impact on the body. The strength of the conclusions drawn from case-control studies, and the extent to which results can be generalized, is directly influenced by the definition and recruitment of cases and appropriate controls. Future studies should consider the interface between epidemiological and biomechanical concepts when choosing appropriate controls to ensure that proper adjustment of prior exposure to injury risk is made. To provide necessary guidance for the optimal selection of controls in case-control studies of interventions to prevent sports-related impact injury, this review outlines a new case-control selection strategy that reflects the importance of biomechanical considerations, which ensures that controls are selected based on the presence of the same global injury mechanism as the cases. To summarize, the general biomechanical principles that should apply to the selection of controls in future case-control studies are as follows: (i) each control must have been exposed to the same global injury mechanism as the case, (e.g. head impact, fall onto outstretched arm); and (ii) intrinsic (individual) factors (e.g. age, sex, skill level) that might modify the person's response to the relevant biomechanical loads are adjusted when either selecting the controls or are in the analysis phase. The same considerations for control selection apply to other study designs such as matched cohort studies or case-crossover studies.

Polymorphisms in GEMIN4 and AGO1 Genes Are Associated with the Risk of Lung Cancer: A Case-Control Study in Chinese Female Non-Smokers

PubMed Central

Fang, Xue; Yin, Zhihua; Li, Xuelian; Xia, Lingzi; Zhou, Baosen

2016-01-01

MicroRNA biosynthesis genes can affect the regulatory effect of global microRNAs to target mRNA and hence influence the genesis and development of human cancer. Here, we selected five single nucleotide polymorphisms (SNPs) (rs7813, rs2740349, rs2291778, rs910924, rs595961) in two key microRNA biosynthesis genes (GEMIN4 and AGO1) and systematically evaluated the association between these SNPs, the gene-environment interaction and lung cancer risk. To control the impact of cigarette smoking on lung cancer, we recruited Chinese female non-smokers for the study. The total number of lung cancer cases and cancer-free controls were 473 and 395 in the case-control study. Four SNPs showed statistically significant associations with lung cancer risk. After Bonferroni correction, rs7813 and rs595961 were evidently still associated with lung cancer risk. In the stratified analysis, our results revealed that all five SNPs were associated with the risk of lung adenocarcinoma; after Bonferroni correction, significant association was maintained for rs7813, rs910924 and rs595961. Haplotype analysis showed GEMIN4 haplotype C-A-G-T was a protective haplotype for lung cancer. In the combined unfavorable genotype analysis, with the increasing number of unfavorable genotypes, a progressively increased gene-dose effect was observed in lung adenocarcinoma. We also found that individuals exposed to cooking oil fumes showed a relatively high risk of lung cancer, but no interactions were found between cooking oil fume exposure or passive smoking exposure with these SNPs, either on an additive scale or a multiplicative scale. Overall, this is the first study showing that rs7813 and rs595961 could be meaningful as genetic markers for lung cancer risk. PMID:27669275

Changes in suicide rates in disaster-stricken areas following the Great East Japan Earthquake and their effect on economic factors: an ecological study.

PubMed

Orui, Masatsugu; Harada, Shuichiro; Hayashi, Mizuho

2014-11-01

Devastating disasters may increase suicide rates due to mental distress. Previous domestic studies have reported decreased suicide rates among men following disasters. Few reports are available regarding factors associated with disasters, making it difficult to discuss how these events affect suicide rates. This study aimed to observe changes in suicide rates in disaster-stricken and neighboring areas following the Great East Japan Earthquake, and examine associations between suicide rates and economic factors. Monthly suicide rates were observed from March 2009 to February 2013, during which time the earthquake occurred on March, 2011. Data were included from disaster-stricken (Iwate, Miyagi, and Fukushima Prefectures) and neighboring (control: Aomori, Akita, and Yamagata Prefectures) areas. The association between changes in suicide rates and economic variables was evaluated based on the number of bankruptcy cases and ratio of effective job offers. In disaster-stricken areas, post-disaster male suicide rates decreased during the 24 months following the earthquake. This trend differed relative to control areas. Female suicide rates increased during the first seven months. Multiple regression analysis showed that bankruptcy cases (β = 0.386, p = 0.038) and ratio of effective job offers (β = -0.445, p = 0.018) were only significantly associated with male post-disaster suicide rates in control areas. Post-disaster suicide rates differed by gender following the earthquake. Our findings suggest that considering gender differences might be important for developing future post-disaster suicide prevention measures. This ecological study revealed that increasing effective job offers and decreasing bankruptcy cases can affect protectively male suicide rates in control areas.

Renal function during pregnancy may predict risk of future hospitalization due to atherosclerotic-related morbidity.

PubMed

Wolak, Talya; Shoham-Vardi, Ilana; Sergienko, Ruslan; Sheiner, Eyal

2016-02-01

This study aims to examine whether renal function during pregnancy can serve as a surrogate marker for the risk of developing atherosclerotic-related morbidity. A case-control study, including women who gave birth at a tertiary referral medical centre during 2000-2012. This population was divided into cases of women who were subsequently hospitalized for atherosclerotic morbidity during the study period and age-matched controls. From the study population, we retrieved two groups: the creatinine (Cr) group: women who had at least one Cr measurement (4945 women) and the urea group: women who had at least one urea measurement (4932 women) during their pregnancies. In the Cr and urea group, there were 572 and 571 cases and 4373 and 4361 controls, respectively. The mean follow-up period in the Cr and urea group was 61.7 ± 37.0 and 57.3 ± 36.0 months, respectively. Cox proportional hazards models (controlling for confounders: gestational hypertension, gestational diabetes, obesity, maternal age, creatinine level (for urea), and gestational week) were used to estimate the adjusted hazard ratios (HR) for hospitalizations. A significant association was documented between renal function during pregnancy and long-term atherosclerotic morbidity. Multivariate analysis, showed that Cr at pregnancy index of ≥89 μmol/L was associated with a significant increased risk for hospitalization due to cardiovascular (CVS) events (adjusted HR = 2.91 CI 1.37-6.19 P = 0.005) and urea level ≤7 mmol/L was independently associated with reduced prevalence of CVS hospitalization (adjusted HR = 0.62 CI 0.57-0.86 P = 0.001). Renal function abnormality during pregnancy may reveal occult predisposition to atherosclerotic morbidity years after childbirth. © 2015 Asian Pacific Society of Nephrology.

Virtual Planning, Control, and Machining for a Modular-Based Automated Factory Operation in an Augmented Reality Environment

PubMed Central

Pai, Yun Suen; Yap, Hwa Jen; Md Dawal, Siti Zawiah; Ramesh, S.; Phoon, Sin Ye

2016-01-01

This study presents a modular-based implementation of augmented reality to provide an immersive experience in learning or teaching the planning phase, control system, and machining parameters of a fully automated work cell. The architecture of the system consists of three code modules that can operate independently or combined to create a complete system that is able to guide engineers from the layout planning phase to the prototyping of the final product. The layout planning module determines the best possible arrangement in a layout for the placement of various machines, in this case a conveyor belt for transportation, a robot arm for pick-and-place operations, and a computer numerical control milling machine to generate the final prototype. The robotic arm module simulates the pick-and-place operation offline from the conveyor belt to a computer numerical control (CNC) machine utilising collision detection and inverse kinematics. Finally, the CNC module performs virtual machining based on the Uniform Space Decomposition method and axis aligned bounding box collision detection. The conducted case study revealed that given the situation, a semi-circle shaped arrangement is desirable, whereas the pick-and-place system and the final generated G-code produced the highest deviation of 3.83 mm and 5.8 mm respectively. PMID:27271840

Virtual Planning, Control, and Machining for a Modular-Based Automated Factory Operation in an Augmented Reality Environment.

PubMed

Pai, Yun Suen; Yap, Hwa Jen; Md Dawal, Siti Zawiah; Ramesh, S; Phoon, Sin Ye

2016-06-07

This study presents a modular-based implementation of augmented reality to provide an immersive experience in learning or teaching the planning phase, control system, and machining parameters of a fully automated work cell. The architecture of the system consists of three code modules that can operate independently or combined to create a complete system that is able to guide engineers from the layout planning phase to the prototyping of the final product. The layout planning module determines the best possible arrangement in a layout for the placement of various machines, in this case a conveyor belt for transportation, a robot arm for pick-and-place operations, and a computer numerical control milling machine to generate the final prototype. The robotic arm module simulates the pick-and-place operation offline from the conveyor belt to a computer numerical control (CNC) machine utilising collision detection and inverse kinematics. Finally, the CNC module performs virtual machining based on the Uniform Space Decomposition method and axis aligned bounding box collision detection. The conducted case study revealed that given the situation, a semi-circle shaped arrangement is desirable, whereas the pick-and-place system and the final generated G-code produced the highest deviation of 3.83 mm and 5.8 mm respectively.

Virtual Planning, Control, and Machining for a Modular-Based Automated Factory Operation in an Augmented Reality Environment

NASA Astrophysics Data System (ADS)

Pai, Yun Suen; Yap, Hwa Jen; Md Dawal, Siti Zawiah; Ramesh, S.; Phoon, Sin Ye

2016-06-01

This study presents a modular-based implementation of augmented reality to provide an immersive experience in learning or teaching the planning phase, control system, and machining parameters of a fully automated work cell. The architecture of the system consists of three code modules that can operate independently or combined to create a complete system that is able to guide engineers from the layout planning phase to the prototyping of the final product. The layout planning module determines the best possible arrangement in a layout for the placement of various machines, in this case a conveyor belt for transportation, a robot arm for pick-and-place operations, and a computer numerical control milling machine to generate the final prototype. The robotic arm module simulates the pick-and-place operation offline from the conveyor belt to a computer numerical control (CNC) machine utilising collision detection and inverse kinematics. Finally, the CNC module performs virtual machining based on the Uniform Space Decomposition method and axis aligned bounding box collision detection. The conducted case study revealed that given the situation, a semi-circle shaped arrangement is desirable, whereas the pick-and-place system and the final generated G-code produced the highest deviation of 3.83 mm and 5.8 mm respectively.

Genetic polymorphisms in 85 DNA repair genes and bladder cancer risk.

PubMed

Michiels, Stefan; Laplanche, Agnès; Boulet, Thomas; Dessen, Philippe; Guillonneau, Bertrand; Méjean, Arnaud; Desgrandchamps, François; Lathrop, Mark; Sarasin, Alain; Benhamou, Simone

2009-05-01

Several defense mechanisms have been developed and maintained during the evolution to protect human cells against damage produced from exogenous or endogenous sources. We examined the associations between bladder cancer and a panel of 652 polymorphisms from 85 genes involved in maintenance of genetic stability [base excision repair, nucleotide excision repair, double-strand break repair (DSBR) and mismatch repair, as well as DNA synthesis and cell cycle regulation pathways] in 201 incident bladder cancer cases and 326 hospital controls. Score statistics were used to test differences in haplotype frequencies between cases and controls in an unconditional logistic regression model. To account for multiple testing, we associated to each P-value the expected proportion of false discoveries (q-value). Haplotype analysis revealed significant associations (P < 0.01) between bladder cancer and two genes (POLB and FANCA) with an associated q-value of 24%. A permutation test was also used to determine whether, in each pathway analyzed, there are more variants whose allelic frequencies are different between cases and controls as compared with what would be expected by chance. Differences were found for cell cycle regulation (P = 0.02) and to a lesser extent for DSBR (P = 0.05) pathways. These results hint to a few potential candidate genes; however, our study was limited by the small sample size and therefore low statistical power to detect associations. It is anticipated that genome-wide association studies will open new perspectives for interpretation of the results of extensive candidate gene studies such as ours.

Red meat-derived heterocyclic amines increase risk of colon cancer: a population-based case-control study

PubMed Central

Helmus, Drew S.; Thompson, Cheryl L.; Zelenskiy, Svetlana; Tucker, Thomas C.; Li, Li

2014-01-01

Formation of mutagenic heterocyclic amines (HCAs) and polycyclic aromatic hydrocarbons (PAHs) is one pathway believed to drive the association of colon cancer with meat consumption. Limited data exist on the associations of individual HCAs and PAHs in red or white meat with colon cancer. Analyzing data from a validated meat preparation questionnaire completed by 1,062 incident colon cancer cases and 1,645 population controls from an ongoing case-control study, risks of colon cancer were estimated using unconditional logistic regression models, comparing the fourth to the first quartile of mutagen estimates derived from a CHARRED based food frequency questionnaire. Total dietary intake of 2-amino-3,8-dimethylimidazo[4,5-f]quinoxaline (MeIQx) (adjusted odds ratio (aOR) = 1.88, 95% CI = 1.45–2.43, Ptrend < 0.0001), 2-amino-3,4,8-trimethylimidazo[4,5-f]quinoxaline (DiMeIQx) (aOR = 1.73, 95% CI = 1.34–2.23, Ptrend < 0.0001) and meat-derived mutagenic activity (aOR = 1.84, 95% CI = 1.42–2.39, Ptrend < 0.0001) were statistically significantly associated with colon cancer risk. Meat type specific analyses revealed statistically significant associations for red meat-derived MeIQx, DiMeIQx and mutagenic activity, but not for the same mutagens derived from white meat. Our study adds evidence supporting red meat-derived, but not white-meat derived HCAs and PAHs, as an important pathway for environmental colon cancer carcinogenesis. PMID:24168237

RAN/RANBP2 polymorphisms and neuroblastoma risk in Chinese children: a three-center case-control study.

PubMed

Wang, Juxiang; Zhuo, Zhenjian; Chen, Min; Zhu, Jinhong; Zhao, Jie; Zhang, Jiao; Chen, Shanshan; He, Jing; Zhou, Haixia

2018-04-28

The genetic etiology of sporadic neuroblastoma remains largely obscure. RAN and RANBP2 genes encode Ras-related nuclear protein and Ran-binding protein 2, respectively. These two proteins form Ran-RanBP2 complex that regulate various cellular activities including nuclear transport. Aberrant functions of the two proteins are implicated in carcinogenesis. Given the unknown role of RAN/RANBP2 single nucleotide polymorphisms (SNPs) in neuroblastoma risk, we performed a multi-center case-control study in Chinese children to assess the association of the RAN/RANBP2 SNPs with neuroblastoma risk. We analyzed three potentially functional SNPs in RAN gene (rs56109543 C>T, rs7132224 A>G, rs14035 C>T) and one in RANBP2 (rs2462788 C>T) in 429 cases and 884 controls. Odds ratios (ORs) and 95% confidence intervals (CIs) were used to access the association between these four polymorphisms and neuroblastoma risk. No single variant was found to statistically significantly associate with neuroblastoma risk. However, individuals with 3 protective genotypes were less likely to develop neuroblastoma, in comparison to non-carriers (adjusted OR=0.33; 95% CI=0.12-0.96; P =0.042), as well as those with 0-2 protective genotypes (adjusted OR=0.33; 95% CI=0.11-0.94; P =0.038). Stratified analysis revealed no significant association for any of the four polymorphisms. Further studies are warranted to validate the weak impact of RAN/RANBP2 SNPs on neuroblastoma risk.

Risk factors for non-fatal occupational injuries among construction workers: A case-control study.

PubMed

Khashaba, E; El-Helaly, M; El-Gilany, A H; Motawei, S M; Foda, S

2018-02-01

Substance abuse is a serious problem, because it affects both workers and young people. Prevalence and consequences of cannabis abuse among construction workers in particular are not well studied in Egypt. To determine the association between non-fatal occupational injuries among construction workers and their demographic and occupational factors and to assess the frequency of cannabis abuse and its relationship to injury severity and workdays lost. A case-control study was conducted at Mansoura Emergency Hospital. Cases were 100 acutely injured male workers. A control group of 90 healthy age-matched workers was selected from 8 construction sites. Workers were interviewed, and a questionnaire was completed that included socio-demographic data, full occupational history, and causes and type of injury. Injury outcome measures included lost workdays and the injury severity score (ISS). Cannabis abuse in injured workers was monitored by preliminary testing of urine and confirmatory testing of blood. Logistic regression analysis revealed that the independent predictors of occupational injuries were rural residence, being a carpenter or painter and past history of injuries. The most common accidents were slipping falls (62%). Confirmed cannabis test was positive in 51.1% of the injured workers. Median days away from work were greater among cannabis users than non-users. The ISS was significantly higher among users compared to non-users ( p < 0.05). Cannabis abuse can increase injury severity and prolong workdays lost. Drug testing is recommended for at-risk construction workers with inadequate safety measures.

Impaired personal trait knowledge, but spared other-person trait knowledge, in an individual with bilateral damage to the medial prefrontal cortex

PubMed Central

Marquine, María J.; Grilli, Matthew D.; Rapcsak, Steven Z.; Kaszniak, Alfred W.; Ryan, Lee; Walther, Katrin; Glisky, Elizabeth L.

2016-01-01

Functional neuroimaging has revealed that in healthy adults retrieval of personal trait knowledge is associated with increased activation in the medial prefrontal cortex (mPFC). Separately, neuropsychology has shown that the self-referential nature of memory can be disrupted in individuals with mPFC lesions. However, it remains unclear whether damage to the mPFC impairs retrieval of personal trait knowledge. Therefore, in this neuropsychological case study we investigated the integrity of personal trait knowledge in J.S., an individual who sustained bilateral damage to the mPFC as a result of an anterior communicating artery aneurysm. We measured both accuracy and consistency of J.S.’s personal trait knowledge as well as his trait knowledge of another, frequently seen person, and compared his performance to a group of healthy adults. Findings revealed that J.S. had severely impaired accuracy and consistency of his personal trait knowledge relative to control participants. In contrast, J.S.’s accuracy and consistency of other-person trait knowledge was intact in comparison to control participants. Moreover, J.S. showed a normal positivity bias in his trait ratings. These results, albeit based on a single case, implicate the mPFC as critical for retrieval of personal trait knowledge. Findings also cast doubt on the likelihood that the mPFC, in particular the ventral mPFC, is necessary for storage and retrieval of trait knowledge of other people. Therefore, this case study adds to a growing body of evidence that mPFC damage can disrupt the link between self and memory. PMID:27342256

Effects of a mobility monitoring system on the cost of care in relation to reimbursement at Swiss nursing homes: learnings from a randomized controlled trial.

PubMed

Stark, Mario; Tietz, Rigo; Gattinger, Heidrun; Hantikainen, Virpi; Ott, Stefan

2017-12-01

Nursing homes in Switzerland are under pressure to efficiently coordinate staff activities to cover their personnel costs under the care financing system. In this study, the use of a mobility monitoring system accompanied with case conferences was investigated in order to improve sleep quality and estimate the cost benefit of this intervention. In an open two-phase randomized controlled trial at three nursing homes, residents with cognitive impairment were randomly assigned to an intervention group and a control group. In the intervention group, a 10-week period of intensive use of the monitoring system and case conferences led by an advanced nurse practitioner (Phase I) was followed by 3 months of reduced use of the monitoring system and case conferences led by an internal registered nurse (Phase II). In the control group, the monitoring system was only used for data acquisition. Nurses reported the activities with a specifically developed tool. Based on the recorded activities, the cost of care was calculated. The correlating reimbursement per patient was calculated from the care levels in the Swiss reimbursement system. Data from 44 residents was included in the analysis with a linear mixed model. Although analysis revealed no statistically significant effects, results indicate that the use of a monitoring system can guide nurses in organizing their tasks to increase effectiveness. Information systems such as the mobility monitor can help to identify single outliers that do not correspond with the overall situation. In the health care system, problematic individual cases can account for a disproportionally high cost levels. It was shown that information systems can have a significant economic impact in the long run. The study is registered at the German Clinical Trials Register under the Nr. DRKS00006829 .

SORL1 is genetically associated with late-onset Alzheimer's disease in Japanese, Koreans and Caucasians.

PubMed

Miyashita, Akinori; Koike, Asako; Jun, Gyungah; Wang, Li-San; Takahashi, Satoshi; Matsubara, Etsuro; Kawarabayashi, Takeshi; Shoji, Mikio; Tomita, Naoki; Arai, Hiroyuki; Asada, Takashi; Harigaya, Yasuo; Ikeda, Masaki; Amari, Masakuni; Hanyu, Haruo; Higuchi, Susumu; Ikeuchi, Takeshi; Nishizawa, Masatoyo; Suga, Masaichi; Kawase, Yasuhiro; Akatsu, Hiroyasu; Kosaka, Kenji; Yamamoto, Takayuki; Imagawa, Masaki; Hamaguchi, Tsuyoshi; Yamada, Masahito; Morihara, Takashi; Moriaha, Takashi; Takeda, Masatoshi; Takao, Takeo; Nakata, Kenji; Fujisawa, Yoshikatsu; Sasaki, Ken; Watanabe, Ken; Nakashima, Kenji; Urakami, Katsuya; Ooya, Terumi; Takahashi, Mitsuo; Yuzuriha, Takefumi; Serikawa, Kayoko; Yoshimoto, Seishi; Nakagawa, Ryuji; Kim, Jong-Won; Ki, Chang-Seok; Won, Hong-Hee; Na, Duk L; Seo, Sang Won; Mook-Jung, Inhee; St George-Hyslop, Peter; Mayeux, Richard; Haines, Jonathan L; Pericak-Vance, Margaret A; Yoshida, Makiko; Nishida, Nao; Tokunaga, Katsushi; Yamamoto, Ken; Tsuji, Shoji; Kanazawa, Ichiro; Ihara, Yasuo; Schellenberg, Gerard D; Farrer, Lindsay A; Kuwano, Ryozo

2013-01-01

To discover susceptibility genes of late-onset Alzheimer's disease (LOAD), we conducted a 3-stage genome-wide association study (GWAS) using three populations: Japanese from the Japanese Genetic Consortium for Alzheimer Disease (JGSCAD), Koreans, and Caucasians from the Alzheimer Disease Genetic Consortium (ADGC). In Stage 1, we evaluated data for 5,877,918 genotyped and imputed SNPs in Japanese cases (n = 1,008) and controls (n = 1,016). Genome-wide significance was observed with 12 SNPs in the APOE region. Seven SNPs from other distinct regions with p-values <2×10(-5) were genotyped in a second Japanese sample (885 cases, 985 controls), and evidence of association was confirmed for one SORL1 SNP (rs3781834, P = 7.33×10(-7) in the combined sample). Subsequent analysis combining results for several SORL1 SNPs in the Japanese, Korean (339 cases, 1,129 controls) and Caucasians (11,840 AD cases, 10,931 controls) revealed genome wide significance with rs11218343 (P = 1.77×10(-9)) and rs3781834 (P = 1.04×10(-8)). SNPs in previously established AD loci in Caucasians showed strong evidence of association in Japanese including rs3851179 near PICALM (P = 1.71×10(-5)) and rs744373 near BIN1 (P = 1.39×10(-4)). The associated allele for each of these SNPs was the same as in Caucasians. These data demonstrate for the first time genome-wide significance of LOAD with SORL1 and confirm the role of other known loci for LOAD in Japanese. Our study highlights the importance of examining associations in multiple ethnic populations.

SORL1 Is Genetically Associated with Late-Onset Alzheimer’s Disease in Japanese, Koreans and Caucasians

PubMed Central

Wang, Li-San; Matsubara, Etsuro; Kawarabayashi, Takeshi; Shoji, Mikio; Tomita, Naoki; Arai, Hiroyuki; Asada, Takashi; Harigaya, Yasuo; Ikeda, Masaki; Amari, Masakuni; Hanyu, Haruo; Higuchi, Susumu; Ikeuchi, Takeshi; Nishizawa, Masatoyo; Suga, Masaichi; Kawase, Yasuhiro; Akatsu, Hiroyasu; Kosaka, Kenji; Yamamoto, Takayuki; Imagawa, Masaki; Hamaguchi, Tsuyoshi; Yamada, Masahito; Moriaha, Takashi; Takeda, Masatoshi; Takao, Takeo; Nakata, Kenji; Sasaki, Ken; Watanabe, Ken; Nakashima, Kenji; Urakami, Katsuya; Ooya, Terumi; Takahashi, Mitsuo; Yuzuriha, Takefumi; Serikawa, Kayoko; Yoshimoto, Seishi; Nakagawa, Ryuji; Kim, Jong-Won; Ki, Chang-Seok; Won, Hong-Hee; Na, Duk L.; Seo, Sang Won; Mook-Jung, Inhee; St. George-Hyslop, Peter; Mayeux, Richard; Haines, Jonathan L.; Pericak-Vance, Margaret A.; Yoshida, Makiko; Nishida, Nao; Tokunaga, Katsushi; Yamamoto, Ken; Tsuji, Shoji; Kanazawa, Ichiro; Ihara, Yasuo; Schellenberg, Gerard D.; Farrer, Lindsay A.; Kuwano, Ryozo

2013-01-01

To discover susceptibility genes of late-onset Alzheimer’s disease (LOAD), we conducted a 3-stage genome-wide association study (GWAS) using three populations: Japanese from the Japanese Genetic Consortium for Alzheimer Disease (JGSCAD), Koreans, and Caucasians from the Alzheimer Disease Genetic Consortium (ADGC). In Stage 1, we evaluated data for 5,877,918 genotyped and imputed SNPs in Japanese cases (n = 1,008) and controls (n = 1,016). Genome-wide significance was observed with 12 SNPs in the APOE region. Seven SNPs from other distinct regions with p-values <2×10−5 were genotyped in a second Japanese sample (885 cases, 985 controls), and evidence of association was confirmed for one SORL1 SNP (rs3781834, P = 7.33×10−7 in the combined sample). Subsequent analysis combining results for several SORL1 SNPs in the Japanese, Korean (339 cases, 1,129 controls) and Caucasians (11,840 AD cases, 10,931 controls) revealed genome wide significance with rs11218343 (P = 1.77×10−9) and rs3781834 (P = 1.04×10−8). SNPs in previously established AD loci in Caucasians showed strong evidence of association in Japanese including rs3851179 near PICALM (P = 1.71×10−5) and rs744373 near BIN1 (P = 1.39×10−4). The associated allele for each of these SNPs was the same as in Caucasians. These data demonstrate for the first time genome-wide significance of LOAD with SORL1 and confirm the role of other known loci for LOAD in Japanese. Our study highlights the importance of examining associations in multiple ethnic populations. PMID:23565137

Vitamin E Deficiency and Oxidative Status are Associated with Prediabetes in Apparently Healthy Subjects.

PubMed

Rodríguez-Ramírez, Gabriela; Simental-Mendía, Luis E; Carrera-Gracia, Manuela de la A; Quintanar-Escorza, Martha-Angélica

2017-04-01

Previous studies have indicated that vitamin E deficiency and oxidative stress affect the beta cell function. Hence, the aim of this study was to determine the association between vitamin E deficiency and oxidative status with prediabetes in apparently healthy subjects. Apparently healthy men and women aged 18-65 years were enrolled in a case-control study. Individuals with new diagnosis of prediabetes were considered as cases and compared with a control group of individuals with normal glucose tolerance. Smoking, alcohol intake, pregnancy, diabetes, kidney disease, liver disease, cardiovascular disease, malignancy, glucocorticoid treatment and consumption of lipid-lowering drugs, antioxidants and vitamin supplements were exclusion criteria. Vitamin E deficiency was defined by serum levels of α-tocopherol <11.6 μmol/L, oxidative status was assessed by total antioxidant capacity and lipid peroxidation, and prediabetes was considered by the presence of impaired fasting glucose and/or impaired glucose tolerance. A total of 148 subjects were allocated into the case (n = 74) and control (n = 74) groups. The frequency of vitamin E deficiency was higher in the case group (41.8%) compared with the control group (35.1%), p = 0.03. The logistic regression analysis adjusted by age, waist circumference and body mass index, revealed a significant association between vitamin E deficiency (OR 3.23; 95% CI: 1.34-7.79, p = 0.009), lipoperoxidation (OR 2.82; CI 95%: 1.42-5.59, p = 0.003) and total antioxidant capacity (OR 0.93; CI 95%: 0.90-0.96, p <0.001) with prediabetes. Results of the present study suggest that both vitamin E deficiency and oxidative status are associated with prediabetes in apparently healthy subjects. Copyright © 2017 IMSS. Published by Elsevier Inc. All rights reserved.

The Effect of Consanguineous Marriage on Mental Health among the Students of the Shahrekord University of Medical Sciences.

PubMed

Hosseinpour, Maryam; Deris, Fatemeh; Solati-Dehkordi, Kamal; Heidari-Soreshjani, Sheida; Karimi, Negar; Teimori, Hossein

2016-11-01

In Iran, after unintentional accidents, mental health problems are the second leading burden of disease. Consanguineous marriage is very common in Iran and the association between parental consanguinity and mental health is an important issue that has not yet been studied sufficiently in Iran. To investigate the effect of consanguinity and the degree of relationship on different levels of mental health. In this cross-sectional study, conducted in the Shahrekord University of Medical Sciences, two groups of students were enrolled. The first group consisted of 156 students that had consanguineous parent (case group) and the second group was 156 students whose parents had non-blood relationship (control group). The students were evaluated using General Health Questionnaire (GHQ-28). Statistical analysis was conducted by Pearson's correlation coefficient, independent t-test and the one-way analysis of variance. Odd ratio was used to estimate the relative risk. Over 30% of the individuals were suffering from mental health problems. The most and least common mental health problems in both groups were social dysfunction (54.5% in the case group and the control group 50%) and depression (15.4% in the case group and 17.3% in the control group), respectively. No statistically significant difference was observed in the frequency of overall mental health and its subscales between student with non-consanguineous parent (control group) and the students that had consanguineous parent (case group) (p>0.05) and the status of mental health was not significantly different among student with different degree of kinship (p>0.05). The study revealed that social dysfunction was very common among the study students and also there were no relationship between parental consanguineous marriage and mental health. Parental consanguinity and genetic factors may not be the major causes of high prevalence of mental health problems in Iran and the effects of the environmental factors on these problems may be greater than those of the inherited ones.

[Nesidioblastosis in the adult: a case report].

PubMed

Ramírez-González, Luis Ricardo; Sotelo-Álvarez, Jorge Arturo; Rojas-Rubio, Priscila; Macías-Amezcua, Michel Dassaejv; Orozco-Rubio, Rafael; Fuentes-Orozco, Clotilde

2015-01-01

Nesidioblastosis is a rare cause of endocrine disease which represents between 0.5% - 5% of cases. This has been associated with other conditions, such as in patients previously treated with insulin or sulfonylurea, in anti-tumour activity in pancreatic tissue of patients with insulinoma, and in patients with other tumours of the Langerhans islet cells. In adults it is presented as a diffuse dysfunction of β cells of unknown cause. The case concerns 46 year-old female, with a history of Sheehan syndrome of fifteen years of onset, and with repeated events characterized with hypoglycaemia in the last three years. Body scan was performed with octreotide, revealing an insulinoma in the pancreatic region. A distal pancreatectomy was performed on the patient. The study reported a pancreatic fragment 8.5 × 3 × 1.5 cm with abnormal proliferation of pancreatic islets in groups of varying size, some of them in relation to the ductal epithelium. Histopathology study was showed positive for chromogranin, confirmed by positive synaptophysin, insulin and glucagon, revealing islet hyperplasia with diffuse nesidioblastosis with negative malignancy. The patient is currently under metabolic control and with no remission of hypoglycaemic events. Nesidioblastosis is a disease of difficult diagnosis should be considered in all cases of failure to locate an insulinoma, as this may be presented in up to 4% of persistent hyperinsulinaemic hypoglycaemia. Copyright © 2015 Academia Mexicana de Cirugía A.C. Published by Masson Doyma México S.A. All rights reserved.

Differential effects of common variants in SCN2A on general cognitive ability, brain physiology, and messenger RNA expression in schizophrenia cases and control individuals.

PubMed

Dickinson, Dwight; Straub, Richard E; Trampush, Joey W; Gao, Yuan; Feng, Ningping; Xie, Bin; Shin, Joo Heon; Lim, Hun Ki; Ursini, Gianluca; Bigos, Kristin L; Kolachana, Bhaskar; Hashimoto, Ryota; Takeda, Masatoshi; Baum, Graham L; Rujescu, Dan; Callicott, Joseph H; Hyde, Thomas M; Berman, Karen F; Kleinman, Joel E; Weinberger, Daniel R

2014-06-01

One approach to understanding the genetic complexity of schizophrenia is to study associated behavioral and biological phenotypes that may be more directly linked to genetic variation. To identify single-nucleotide polymorphisms associated with general cognitive ability (g) in people with schizophrenia and control individuals. Genomewide association study, followed by analyses in unaffected siblings and independent schizophrenia samples, functional magnetic resonance imaging studies of brain physiology in vivo, and RNA sequencing in postmortem brain samples. The discovery cohort and unaffected siblings were participants in the National Institute of Mental Health Clinical Brain Disorders Branch schizophrenia genetics studies. Additional schizophrenia cohorts were from psychiatric treatment settings in the United States, Japan, and Germany. The discovery cohort comprised 339 with schizophrenia and 363 community control participants. Follow-up analyses studied 147 unaffected siblings of the schizophrenia cases and independent schizophrenia samples including a total of an additional 668 participants. Imaging analyses included 87 schizophrenia cases and 397 control individuals. Brain tissue samples were available for 64 cases and 61 control individuals. We studied genomewide association with g, by group, in the discovery cohort. We used selected genotypes to test specific associations in unaffected siblings and independent schizophrenia samples. Imaging analyses focused on activation in the prefrontal cortex during working memory. Brain tissue studies yielded messenger RNA expression levels for RefSeq transcripts. The schizophrenia discovery cohort showed genomewide-significant association of g with polymorphisms in sodium channel gene SCN2A, accounting for 10.4% of g variance (rs10174400, P = 9.27 × 10(-10)). Control individuals showed a trend for g/genotype association with reversed allelic directionality. The genotype-by-group interaction was also genomewide significant (P = 1.75 × 10(-9)). Siblings showed a genotype association with g parallel to the schizophrenia group and the same interaction pattern. Parallel, but weaker, associations with cognition were found in independent schizophrenia samples. Imaging analyses showed a similar pattern of genotype associations by group and genotype-by-group interaction. Sequencing of RNA in brain revealed reduced expression in 2 of 3 SCN2A alternative transcripts in the patient group, with genotype-by-group interaction, that again paralleled the cognition effects. The findings implicate SCN2A and sodium channel biology in cognitive impairment in schizophrenia cases and unaffected relatives and may facilitate development of cognition-enhancing treatments.

A 43-year systematic review and meta-analysis: case-fatality and risk of death among adults with tuberculous meningitis in Africa.

PubMed

Woldeamanuel, Yohannes W; Girma, Belaineh

2014-05-01

Tuberculous meningitis (TBM) is a preventable and curable common health problem among African adults. Poor nutrition, poverty, household crowding, drug resistant tuberculosis (TB) strains, AIDS, and malfunctioning TB control programs are important risk factors. We conducted a systematic review and meta-analysis of published literature reporting case-fatalities of TBM among adults in African countries from 1970 till date. A PubMed search identified relevant papers. Employed terms include 'adult tuberculous meningitis' AND 'tuberculosis Africa'. PRISMA review guidelines were applied. Adult TBM case-fatalities, odds ratio (OR), relative risk (RR), forest-plot meta-analysis for weighted OR and RR, funnel plots, L'Abbé plots, meta-regressed bubble plots, and inter-study homogeneity were computed. Among 15 studies included, adult TBM occurred in up to 28 % of all meningitis forms with case-fatality of 60 % (inverse-variance weighted 54 %). Fixed-effect meta-analysis revealed weighted OR and RR of adult TBM fatalities to be 4.37 (95 % CI 3.92, 4.88) and 2.53 (95 % CI 2.38, 2.69), respectively. Inter-study homogeneity was reliable, regional representativeness was adequate allowing generalizability, and funnel-plots behaved symmetrically with insignificant inconsistency. All cases were initiated with anti-TB medication, while some had 'breakthrough' TBM. In Africa, adult TBM has a significant public health importance with a very high fatality which has remained stagnant for the past half-century. This reflects ongoing low quality of medical care at facilities where lengthy referrals end up. Community-based studies can reveal higher unaccounted morbidity, accrued disability, and larger mortality. Improving access points for early TB management at community-level, developing health infra-structure for comprehensive case management at facility-level, and poverty reduction can help combat this multi-faceted problem--whose reduction can in return help fight poverty.

Renal cell metastases versus liver hemangioma.

PubMed

Mydlo, J H; Shore, N; Herr, H W

1991-03-01

We present the case of a man with presumed metastatic renal cell carcinoma based on radiologic examination and weight loss, who refused treatment of any kind for one year. A surgical exploration to control hematuria revealed a Stage I tumor.

Endoscopic third ventriculostomy for hydrocephalus in brainstem glioma: a case series.

PubMed

Kobayashi, Natsuki; Ogiwara, Hideki

2016-07-01

A brainstem glioma is an incurable brain tumor that can be complicated by hydrocephalus. A ventriculoperitoneal (VP) shunt is generally performed for the control of hydrocephalus. This study aimed to reveal the safety and efficacy of an endoscopic third ventriculostomy (ETV) for hydrocephalus in brainstem gliomas. Six patients who had pontine glioma with hydrocephalus underwent an ETV between May 2010 and November 2015. In all the cases, there were one or more symptoms of hydrocephalus (headache, nausea, vomiting, or lethargy). Retrospective review of these patients was performed using the medical records and neuroimagings. The ETV was performed safely and there were no intraoperative complications in all patients. The mean follow-up period was 12.3 months. An immediate symptomatic relief of hydrocephalus and an adequate control of symptoms were achieved without a VP shunt in all patients. The ETV is considered to be an effective and safe procedure for the treatment of hydrocephalus in brainstem gliomas. Determining the ventriculostomy site according to the preoperative MRI in each case is considered to be important for the safe procedure.

Methodology Series Module 2: Case-control Studies.

PubMed

Setia, Maninder Singh

2016-01-01

Case-Control study design is a type of observational study. In this design, participants are selected for the study based on their outcome status. Thus, some participants have the outcome of interest (referred to as cases), whereas others do not have the outcome of interest (referred to as controls). The investigator then assesses the exposure in both these groups. The investigator should define the cases as specifically as possible. Sometimes, definition of a disease may be based on multiple criteria; thus, all these points should be explicitly stated in case definition. An important aspect of selecting a control is that they should be from the same 'study base' as that of the cases. We can select controls from a variety of groups. Some of them are: General population; relatives or friends; and hospital patients. Matching is often used in case-control control studies to ensure that the cases and controls are similar in certain characteristics, and it is a useful technique to increase the efficiency of the study. Case-Control studies can usually be conducted relatively faster and are inexpensive - particularly when compared with cohort studies (prospective). It is useful to study rare outcomes and outcomes with long latent periods. This design is not very useful to study rare exposures. Furthermore, they may also be prone to certain biases - selection bias and recall bias.

Case-control studies in neurosurgery.

PubMed

Nesvick, Cody L; Thompson, Clinton J; Boop, Frederick A; Klimo, Paul

2014-08-01

Observational studies, such as cohort and case-control studies, are valuable instruments in evidence-based medicine. Case-control studies, in particular, are becoming increasingly popular in the neurosurgical literature due to their low cost and relative ease of execution; however, no one has yet systematically assessed these types of studies for quality in methodology and reporting. The authors performed a literature search using PubMed/MEDLINE to identify all studies that explicitly identified themselves as "case-control" and were published in the JNS Publishing Group journals (Journal of Neurosurgery, Journal of Neurosurgery: Pediatrics, Journal of Neurosurgery: Spine, and Neurosurgical Focus) or Neurosurgery. Each paper was evaluated for 22 descriptive variables and then categorized as having either met or missed the basic definition of a case-control study. All studies that evaluated risk factors for a well-defined outcome were considered true case-control studies. The authors sought to identify key features or phrases that were or were not predictive of a true case-control study. Those papers that satisfied the definition were further evaluated using the Strengthening the Reporting of Observational Studies in Epidemiology (STROBE) checklist. The search detected 67 papers that met the inclusion criteria, of which 32 (48%) represented true case-control studies. The frequency of true case-control studies has not changed with time. Use of odds ratios (ORs) and logistic regression (LR) analysis were strong positive predictors of true case-control studies (for odds ratios, OR 15.33 and 95% CI 4.52-51.97; for logistic regression analysis, OR 8.77 and 95% CI 2.69-28.56). Conversely, negative predictors included focus on a procedure/intervention (OR 0.35, 95% CI 0.13-0.998) and use of the word "outcome" in the Results section (OR 0.23, 95% CI 0.082-0.65). After exclusion of nested case-control studies, the negative correlation between focus on a procedure/intervention and true case-control studies was strengthened (OR 0.053, 95% CI 0.0064-0.44). There was a trend toward a negative association between the use of survival analysis or Kaplan-Meier curves and true case-control studies (OR 0.13, 95% CI 0.015-1.12). True case-control studies were no more likely than their counterparts to use a potential study design "expert" (OR 1.50, 95% CI 0.57-3.95). The overall average STROBE score was 72% (range 50-86%). Examples of reporting deficiencies were reporting of bias (28%), missing data (55%), and funding (44%). The results of this analysis show that the majority of studies in the neurosurgical literature that identify themselves as "case-control" studies are, in fact, labeled incorrectly. Positive and negative predictors were identified. The authors provide several recommendations that may reverse the incorrect and inappropriate use of the term "case-control" and improve the quality of design and reporting of true case-control studies in neurosurgery.

Matrin 3 Is a Component of Neuronal Cytoplasmic Inclusions of Motor Neurons in Sporadic Amyotrophic Lateral Sclerosis.

PubMed

Tada, Mikiko; Doi, Hiroshi; Koyano, Shigeru; Kubota, Shun; Fukai, Ryoko; Hashiguchi, Shunta; Hayashi, Noriko; Kawamoto, Yuko; Kunii, Misako; Tanaka, Kenichi; Takahashi, Keita; Ogawa, Yuki; Iwata, Ryo; Yamanaka, Shoji; Takeuchi, Hideyuki; Tanaka, Fumiaki

2018-02-01

Mutations in the MATR3 gene have been identified as a cause of familial amyotrophic lateral sclerosis, but involvement of the matrin 3 (MATR3) protein in sporadic amyotrophic lateral sclerosis (SALS) pathology has not been fully assessed. We immunohistochemically analyzed MATR3 pathology in the spinal cords of SALS and control autopsy specimens. MATR3 immunostaining of the motor neuron nuclei revealed two distinct patterns: mild and strong staining. There were no differences in the ratio of mild versus strong nuclear staining between the SALS and control cases. MATR3-containing neuronal cytoplasmic inclusions (NCIs) were observed in 60% of SALS cases. Most motor neurons with MATR3-positive NCIs exhibited a mild nuclear staining pattern. Although 16.8% of NCIs positive for transactivating response region DNA-binding protein 43 (TDP-43) were estimated as double-labeled by MATR3, no MATR3-positive or TDP-43-negative NCIs were observed. Although a previous study found that MATR3-positive NCIs are present only in cases with C9orf72 hexanucleotide repeat expansion, ubiquitin-positive granular NCIs were not observed in the cerebellum, which have been reported as specific to C9orf72-related ALS. Six ALS cases were confirmed to be negative for the GGGGCC hexanucleotide. Our results reveal that MATR3 is a component of TDP-43-positive NCIs in motor neurons, even in SALS, and indicate the broader involvement of MATR3 in ALS pathology and the heterogeneity of TDP-43-positive NCIs. Copyright © 2018 American Society for Investigative Pathology. Published by Elsevier Inc. All rights reserved.

Increased suicide risk and clinical correlates of suicide among patients with Parkinson's disease.

PubMed

Lee, Taeyeop; Lee, Hochang Benjamin; Ahn, Myung Hee; Kim, Juyeon; Kim, Mi Sun; Chung, Sun Ju; Hong, Jin Pyo

2016-11-01

Parkinson's disease (PD) is a debilitating, neurodegenerative condition frequently complicated by psychiatric symptoms. Patients with PD may be at higher risk for suicide than the general population, but previous estimates are limited and conflicting. The aim of this study is to estimate the suicide rate based on the clinical case registry and to identify risk factors for suicide among patients diagnosed with PD. The target sample consisted of 4362 patients diagnosed with PD who were evaluated at a general hospital in Seoul, South Korea, from 1996 to 2012. The standardized mortality ratio for suicide among PD patients was estimated. In order to identify the clinical correlates of suicide, case-control study was conducted based on retrospective chart review. The 29 suicide cases (age: 62.3 ± 13.7 years; females: 34.5%) were matched with 116 non-suicide controls (age: 63.5 ± 9.2 years; females 56.9%) by the year of initial PD evaluation. The SMR for suicide in PD patients was 1.99 (95% CI 1.33-2.85). Mean duration from time of initial diagnosis to suicide among cases was 6.1 ± 3.5 years. Case-control analysis revealed that male, initial extremity of motor symptom onset, history of depressive disorder, delusion, any psychiatric disorder, and higher L-dopa dosage were significantly associated with suicide among PD patients. Other PD-related variables such as UPDRS motor score were not significantly associated with death by suicide. Suicide risk in PD patients is approximately 2 times higher than that in the general population. Psychiatric disorders, and also L-dopa medication need further attention with respect to suicide. Copyright © 2016 Elsevier Ltd. All rights reserved.

Mental health promotion of Iranian university students: the effect of self-esteem and health locus of control.

PubMed

Moshki, M; Amiri, M; Khosravan, S

2012-10-01

The purpose of this study was to investigate the effect of self-esteem and health control belief on promoting students' mental health. In so doing, 144 students from two medical universities in the north-east of Iran were recruited into study. They were pair-matched and randomly assigned to case and control groups. The data were collected through Goldberg's General Health Questionnaire-28, Multidimensional Health Locus of Control and Rosenberg's Self-Esteem Scales. The results showed that there were significant differences between the groups before and after the intervention. The external components of health locus of control (chance and powerful others) showed a significant decrease but the internal health locus of control and self-esteem revealed a significant increase after the intervention (P < 0.0001). Moreover, the students' mental health had a significant increase after 3 months of intervention (P < 0.0001). The findings emphasize that the programme can improve the health locus of control beliefs, self-esteem and mental health promotion of the students. This will require additional monitoring and uninterrupted attempts to be effective. © 2011 Blackwell Publishing.

Case-Control Studies of Sporadic Enteric Infections: A Review and Discussion of Studies Conducted Internationally from 1990 to 2009

PubMed Central

Fullerton, Kathleen E.; Scallan, Elaine; Kirk, Martyn D.; Mahon, Barbara E.; Angulo, Frederick J.; de Valk, Henriette; van Pelt, Wilfrid; Gauci, Charmaine; Hauri, Anja M.; Majowicz, Shannon; O’Brien, Sarah J.

2015-01-01

Epidemiologists have used case-control studies to investigate enteric disease outbreaks for many decades. Increasingly, case-control studies are also used to investigate risk factors for sporadic (not outbreak-associated) disease. While the same basic approach is used, there are important differences between outbreak and sporadic disease settings that need to be considered in the design and implementation of the case-control study for sporadic disease. Through the International Collaboration on Enteric Disease “Burden of Illness” Studies (the International Collaboration), we reviewed 79 case-control studies of sporadic enteric infections caused by nine pathogens that were conducted in 22 countries and published from 1990 through to 2009. We highlight important methodological and study design issues (including case definition, control selection, and exposure assessment) and discuss how approaches to the study of sporadic enteric disease have changed over the last 20 years (e.g., making use of more sensitive case definitions, databases of controls, and computer-assisted interviewing). As our understanding of sporadic enteric infections grows, methods and topics for case-control studies are expected to continue to evolve; for example, advances in understanding of the role of immunity can be used to improve control selection, the apparent protective effects of certain foods can be further explored, and case-control studies can be used to provide population-based measures of the burden of disease. PMID:22443481

Diagnostic Performance and Utility of Quantitative EEG Analyses in Delirium: Confirmatory Results From a Large Retrospective Case-Control Study.

PubMed

Fleischmann, Robert; Tränkner, Steffi; Bathe-Peters, Rouven; Rönnefarth, Maria; Schmidt, Sein; Schreiber, Stephan J; Brandt, Stephan A

2018-03-01

The lack of objective disease markers is a major cause of misdiagnosis and nonstandardized approaches in delirium. Recent studies conducted in well-selected patients and confined study environments suggest that quantitative electroencephalography (qEEG) can provide such markers. We hypothesize that qEEG helps remedy diagnostic uncertainty not only in well-defined study cohorts but also in a heterogeneous hospital population. In this retrospective case-control study, EEG power spectra of delirious patients and age-/gender-matched controls (n = 31 and n = 345, respectively) were fitted in a linear model to test their performance as binary classifiers. We subsequently evaluated the diagnostic performance of the best classifiers in control samples with normal EEGs (n = 534) and real-world samples including pathologic findings (n = 4294). Test reliability was estimated through split-half analyses. We found that the combination of spectral power at F3-P4 at 2 Hz (area under the curve [AUC] = .994) and C3-O1 at 19 Hz (AUC = .993) provided a sensitivity of 100% and a specificity of 99% to identify delirious patients among normal controls. These classifiers also yielded a false positive rate as low as 5% and increased the pretest probability of being delirious by 57% in an unselected real-world sample. Split-half reliabilities were .98 and .99, respectively. This retrospective study yielded preliminary evidence that qEEG provides excellent diagnostic performance to identify delirious patients even outside confined study environments. It furthermore revealed reduced beta power as a novel specific finding in delirium and that a normal EEG excludes delirium. Prospective studies including parameters of pretest probability and delirium severity are required to elaborate on these promising findings.

High levels of multidrug resistant tuberculosis in new and treatment-failure patients from the Revised National Tuberculosis Control Programme in an urban metropolis (Mumbai) in Western India.

PubMed

D'souza, Desiree T B; Mistry, Nerges F; Vira, Tina S; Dholakia, Yatin; Hoffner, Sven; Pasvol, Geoffrey; Nicol, Mark; Wilkinson, Robert J

2009-06-29

India, China and Russia account for more than 62% of multidrug resistant tuberculosis (MDRTB) globally. Within India, locations like urban metropolitan Mumbai with its burgeoning population and high incidence of TB are suspected to be a focus for MDRTB. However apart from sporadic surveys at watched sites in the country, there has been no systematic attempt by the Revised National Tuberculosis Control Programme (RNTCP) of India to determine the extent of MDRTB in Mumbai that could feed into national estimates. Drug susceptibility testing (DST) is not routinely performed as a part of programme policy and public health laboratory infrastructure, is limited and poorly equipped to cope with large scale testing. From April 2004 to January 2007 we determined the extent of drug resistance in 724 {493 newly diagnosed, previously untreated and 231 first line treatment failures (sputum-smear positive at the fifth month after commencement of therapy)} cases of pulmonary tuberculosis drawn from the RNTCP in four suboptimally performing municipal wards of Mumbai. The observations were obtained using a modified radiorespirometric Buddemeyer assay and validated by the Swedish Institute for Infectious Disease Control, Stockholm, a supranational reference laboratory. Data was analyzed utilizing SPSS 10.0 and Epi Info 2002. This study undertaken for the first time in RNTCP outpatients in Mumbai reveals a high proportion of MDRTB strains in both previously untreated (24%) and treatment-failure cases (41%). Amongst new cases, resistance to 3 or 4 drug combinations (amplified drug resistance) including isoniazid (H) and rifampicin (R), was greater (20%) than resistance to H and R alone (4%) at any point in time during the study. The trend for monoresistance was similar in both groups remaining highest to H and lowest to R. External quality control revealed good agreement for H and R resistance (k = 0.77 and 0.76 respectively). Levels of MDRTB are much higher in both previously untreated and first line treatment-failure cases in the selected wards in Mumbai than those projected by national estimates. The finding of amplified drug resistance suggests the presence of a well entrenched MDRTB scenario. This study suggests that a wider set of surveillance sites are needed to obtain a more realistic view of the true MDRTB rates throughout the country. This would assist in the planning of an adequate response to the diagnosis and care of MDRTB.

Study of environmental and genetic factors in children with craniosynostosis: A case-control study

PubMed Central

Barik, Mayadhar; Bajpai, Minu; Das, Rashmi Ranjan; Panda, Shasanka Shekhar

2013-01-01

Background: Craniosynostosis is a congenital defect that causes one or more sutures on an infant's skull to close earlier than normal. Though both genetic and environmental factors play a role in its pathogenesis, there is no published Indian data to verify this. Materials and Methods: In this case-control study, we investigated the association of craniosynostosis with parental age in 50 children with craniosynostosis attending the surgical outpatient department of a tertiary care institution in North India. Results: There was a significant association of craniosynostosis with advanced parental [OR 2.17 (95% CI 1.08 to 4.36)] but not maternal age. Education status of parents also revealed that those having a higher education had an increased risk of having a child with craniosynostosis [maternal education, OR 2.32 (95% CI 1.2 to 4.76); paternal education, OR 2.51 (95% CI 1.21 to 5.0)]. Molecular analysis by sequencing confirmed following amino-acid substitution in different Exons of the FGFR2 gene. Besides these, we found other novel identical mutations in FGFR2 gene in both syndromic and non-syndromic craniosynostoses. Conclusion: This is the first epidemiological study in India that provides evidence that, advanced paternal age and higher parental education level might be associated with an increased risk of craniosynostosis. New mutations were identified in cases of both syndromic and non-syndromic craniosynostosis. PMID:24082921

Study of environmental and genetic factors in children with craniosynostosis: A case-control study.

PubMed

Barik, Mayadhar; Bajpai, Minu; Das, Rashmi Ranjan; Panda, Shasanka Shekhar

2013-05-01

Craniosynostosis is a congenital defect that causes one or more sutures on an infant's skull to close earlier than normal. Though both genetic and environmental factors play a role in its pathogenesis, there is no published Indian data to verify this. In this case-control study, we investigated the association of craniosynostosis with parental age in 50 children with craniosynostosis attending the surgical outpatient department of a tertiary care institution in North India. There was a significant association of craniosynostosis with advanced parental [OR 2.17 (95% CI 1.08 to 4.36)] but not maternal age. Education status of parents also revealed that those having a higher education had an increased risk of having a child with craniosynostosis [maternal education, OR 2.32 (95% CI 1.2 to 4.76); paternal education, OR 2.51 (95% CI 1.21 to 5.0)]. Molecular analysis by sequencing confirmed following amino-acid substitution in different Exons of the FGFR2 gene. Besides these, we found other novel identical mutations in FGFR2 gene in both syndromic and non-syndromic craniosynostoses. This is the first epidemiological study in India that provides evidence that, advanced paternal age and higher parental education level might be associated with an increased risk of craniosynostosis. New mutations were identified in cases of both syndromic and non-syndromic craniosynostosis.

Tularaemia outbreaks in Sakarya, Turkey: case-control and environmental studies.

PubMed

Meric, M; Sayan, M; Dundar, D; Willke, A

2010-08-01

Tularaemia is an important zoonotic disease that leads to outbreaks. This study aimed to compare the epidemiological characteristics of two tularaemia outbreaks that occurred in the Sakarya region of Turkey, analyse the risk factors for the development of outbreaks and identify Francisella (F.) tularensis in the water samples. Two tularaemia outbreaks occurred in the Kocadongel village in 2005 and 2006. A field investigation and a case-control study with 47 cases and 47 healthy households were performed during the second outbreak. Clinical samples from the patients and filtrated water samples were analysed for F. tularensis via real-time polymerase chain reaction. From the two outbreaks, a total of 58 patients were diagnosed with oropharyngeal tularaemia based on their clinical and serological results. Both outbreaks occurred between the months of January and April, and the number of patients peaked in February. Logistic regression analysis revealed that the consumption of natural spring water was the only significant risk factor for tularaemia infection (odds ratio 3.5, confidence interval 1.23-10.07). F. tularensis was detected in eight clinical samples and in the filtrated natural spring water. This study is the first report of tularaemia from this region. The results show that both tularaemia outbreaks were related to the consumption of untreated natural spring water. To prevent waterborne tularaemia, community water supplies should be treated and checked periodically.

Evidence for Association of the E23K Variant of KCNJ11 Gene with Type 2 Diabetes in Tunisian Population: Population-Based Study and Meta-Analysis

PubMed Central

Lasram, Khaled; Ben Halim, Nizar; Hsouna, Sana; Kefi, Rym; Arfa, Imen; Ghazouani, Welid; Jamoussi, Henda; Benrahma, Houda; Kharrat, Najla; Rebai, Ahmed; Ben Ammar, Slim; Bahri, Sonia; Barakat, Abdelhamid; Abid, Abdelmajid; Abdelhak, Sonia

2014-01-01

Aims. Genetic association studies have reported the E23K variant of KCNJ11 gene to be associated with Type 2 diabetes. In Arab populations, only four studies have investigated the role of this variant. We aimed to replicate and validate the association between the E23K variant and Type 2 diabetes in Tunisian and Arab populations. Methods. We have performed a case-control association study including 250 Tunisian patients with Type 2 diabetes and 267 controls. Allelic association has also been evaluated by 2 meta-analyses including all population-based studies among Tunisians and Arabs (2 and 5 populations, resp.). Results. A significant association between the E23K variant and Type 2 diabetes was found (OR = 1.6, 95% CI = 1.14–2.27, and P = 0.007). Furthermore, our meta-analysis has confirmed the significant role of the E23K variant in susceptibility of Type 2 diabetes in Tunisian and Arab populations (OR = 1.29, 95% CI = 1.15–1.46, and P < 10−3 and OR = 1.33, 95% CI = 1.13–1.56, and P = 0.001, resp.). Conclusion. Both case-control and meta-analyses results revealed the significant association between the E23K variant of KCNJ11 and Type 2 diabetes among Tunisians and Arabs. PMID:25165692

Lack of association between TPH2 gene polymorphisms with major depressive disorder in multiethnic Malaysian population.

PubMed

Nazree, Nur Elia; Loke, Ai Chin; Zainal, Nor Zuraida; Mohamed, Zahurin

2015-03-01

Numerous association studies of candidate genes studies with major depressive disorder (MDD) have been conducted for many years; however, the evidence of association between genes and the risk of developing MDD still remains inconclusive. In this study, we aimed to investigate the association between the tryptophan hydroxylase 2 (TPH2) gene and MDD in three ethnic groups (Malay, Chinese and Indian) within the Malaysian population. Two hundred and sixty five MDD patients who fulfilled the Diagnostic and Statistical Manual of Mental Disorders-IV criteria for MDD and 332 healthy controls were recruited for the study. All cases and controls were then genotyped for TPH2 polymorphisms rs1386494, rs1386495 and rs7305115. Single locus analysis in pooled and ethnically stratified subjects revealed no association between each of the three variants of the TPH2 gene with susceptibility to MDD. Strong linkage disequilibrium was detected between rs1386495 and rs1386494 in pooled subjects; however, no significant association was found in the haplotype analysis. In this study, we suggest that in both the Chinese and Indian populations, gender distribution differ significantly between cases and controls, showing that women are more at risk of developing MDD compared with men. Therefore, we suggest that the occurrence of MDD in both Chinese and Indians in the Malaysian population may be influenced by gender. Copyright © 2013 Wiley Publishing Asia Pty Ltd.

A case-control study on the risk factors of urinary calculus in Uyghur children in the Kashi region.

PubMed

Wang, H C; Liu, C; He, H Y; Wang, M X

2015-06-01

The incidence of urinary calculus (UC) is very high in Uyghur children in the Kashi region of Xinjiang, China, which seriously affects the growth and life quality of these children. This study was aimed at investigating the risk factors of UC in Uyghur children in Kashi region. One hundred fifteen Uyghur children (age <7 years) with UC who were treated in First People's Hospital in Kashi were enrolled in the case group. A 1:1 case-control study with a questionnaire was performed. The results showed that, among the 115 UC patients, there were more boys (71.3%) than girls (28.7%), and most cases had an onset age of 1-3 years (75.7%). A lower than primary school education in the mother, drinking unboiled water, water intake <500 mL/day, and eating too much sweets were risk factors [odds ratio (OR) = 2.385, 9.160, 3.263, and 8.945, respectively], whereas vegetable intake and exposure to summer sunshine of <2 h/day were protective factors against UC onset (OR = 0.154 and 0.344, respectively). Analysis of UC-related factors in 99 cases of <3-year-old children revealed that breastfeeding was also a protective factor (OR = 0.007), whereas frequent cow's milk intake within 5 months (OR = 2.414) and frequent "panada" intake (OR = 2.529) were risk factors. The occurrence of UC in Uyghur children in the Kashi region is mainly affected by maternal educational background, quality of drinking water, water intake volume, and dietary pattern. Furthermore, geography may also have a role.

Complex Atheromatosis of the Aortic Arch in Cerebral Infarction

PubMed Central

Capmany, Ramón Pujadas; Ibañez, Montserrat Oliveras; Pesquer, Xavier Jané

2010-01-01

In many stroke patients it is not possible to establish the etiology of stroke. However, in the last two decades, the use of transesophageal echocardiography in patients with stroke of uncertain etiology reveals atherosclerotic plaques in the aortic arch, which often protrude into the lumen and have mobile components in a high percentage of cases. Several autopsy series and retrospective studies of cases and controls have shown an association between aortic arch atheroma and arterial embolism, which was later confirmed by prospectively designed studies. The association with ischemic stroke was particularly strong when atheromas were located proximal to the ostium of the left subclavian artery, when the plaque was ≥ 4 mm thick and particularly when mobile components are present. In these cases, aspirin might not prevent adequately new arterial ischemic events especially stroke. Here we review the evidence of aortic arch atheroma as an independent risk factor for stroke and arterial embolism, including clinical and pathological data on atherosclerosis of the thoracic aorta as an embolic source. In addition, the impact of complex plaques (≥ 4 mm thick, or with mobile components) on increasing the risk of stroke is also reviewed. In non-randomized retrospective studies anticoagulation was superior to antiplatelet therapy in patients with stroke and aortic arch plaques with mobile components. In a retrospective case-control study, statins significantly reduced the relative risk of new vascular events. However, given the limited data available and its retrospective nature, randomized prospective studies are needed to establish the optimal secondary prevention therapeutic regimens in these high risk patients. PMID:21804777

Complex atheromatosis of the aortic arch in cerebral infarction.

PubMed

Capmany, Ramón Pujadas; Ibañez, Montserrat Oliveras; Pesquer, Xavier Jané

2010-08-01

In many stroke patients it is not possible to establish the etiology of stroke. However, in the last two decades, the use of transesophageal echocardiography in patients with stroke of uncertain etiology reveals atherosclerotic plaques in the aortic arch, which often protrude into the lumen and have mobile components in a high percentage of cases. Several autopsy series and retrospective studies of cases and controls have shown an association between aortic arch atheroma and arterial embolism, which was later confirmed by prospectively designed studies. The association with ischemic stroke was particularly strong when atheromas were located proximal to the ostium of the left subclavian artery, when the plaque was ≥ 4 mm thick and particularly when mobile components are present. In these cases, aspirin might not prevent adequately new arterial ischemic events especially stroke. Here we review the evidence of aortic arch atheroma as an independent risk factor for stroke and arterial embolism, including clinical and pathological data on atherosclerosis of the thoracic aorta as an embolic source. In addition, the impact of complex plaques (≥ 4 mm thick, or with mobile components) on increasing the risk of stroke is also reviewed. In non-randomized retrospective studies anticoagulation was superior to antiplatelet therapy in patients with stroke and aortic arch plaques with mobile components. In a retrospective case-control study, statins significantly reduced the relative risk of new vascular events. However, given the limited data available and its retrospective nature, randomized prospective studies are needed to establish the optimal secondary prevention therapeutic regimens in these high risk patients.

Extravasation of contrast medium during CT examination: an observational case-control study.

PubMed

Alami, Zayneb; Nasri, Siham; Ahid, Samir; Kacem, Hanane Hadj

2015-01-01

Extravasation is an adverse reaction to intravenous injection of contrast medium (CM) during CT examination. The objectives of this study are to determine the frequency, management and outcomes of extravasations and to assess risk factors for extravasation. Every incident of extravasation which occurred between March 2012 and March 31, 2013 was recorded in an extravasation form. Ethics Committee approval was obtained and the patients gave their consent to participate in the study. Data collected in the form included patients' age, sex, comorbidities, symptoms, CM used, injection mode, site and rate, extravasated volume, location of extravasation, severity of injury, treatment and patient outcome. Each case was matched with 4 controls of the same age ± 5 years and the same gender when possible. Extravasation occurred in 18 (7 women, 11 men) out of 2,000 injections of CM (0.9%) with a median age of 53 (10-78) years. Automated injection was performed in all cases with a mean rate of 1.7 ml/s. Large extravasated volumes (≥50 ml) were more observed in patients undergoing CT angiography (28.6% vs. 6.6%, although not significant P=0.112). Multivariate analysis revealed a significant association between patients with cardiac diseases and extravasation (OR: 7.3, 95% CI (1.09-49.05), P=0.04) whereas the injection rate is a protective factor from extravasation (P=0.002). Extravasation of CM results in mild to moderate adverse effects in all cases. Our study suggests that patients with cardiac disease are more predisposed to contrast extravasation than others. Further and larger studies are needed to confirm this trend.

Alternative Energy Science and Policy: Biofuels as a Case Study

NASA Astrophysics Data System (ADS)

Ammous, Saifedean H.

This dissertation studies the science and policy-making of alternative energy using biofuels as a case study, primarily examining the instruments that can be used to alleviate the impacts of climate change and their relative efficacy. Three case studies of policy-making on biofuels in the European Union, United States of America and Brazil are presented and discussed. It is found that these policies have had large unintended negative consequences and that they relied on Lifecycle Analysis studies that had concluded that increased biofuels production can help meet economic, energy and environmental goals. A close examination of these Lifecycle Analysis studies reveals that their results are not conclusive. Instead of continuing to attempt to find answers from Lifecycle Analyses, this study suggests an alternative approach: formulating policy based on recognition of the ignorance of real fuel costs and pollution. Policies to combat climate change are classified into two distinct approaches: policies that place controls on the fuels responsible for emissions and policies that target the pollutants themselves. A mathematical model is constructed to compare these two approaches and address the central question of this study: In light of an ignorance of the cost and pollution impacts of different fuels, are policies targeting the pollutants themselves preferable to policies targeting the fuels? It is concluded that in situations where the cost and pollution functions of a fuel are unknown, subsidies, mandates and caps on the fuel might result in increased or decreased greenhouse gas emissions; on the other hand, a tax or cap on carbon dioxide results in the largest decrease possible of greenhouse gas emissions. Further, controls on greenhouse gases are shown to provide incentives for the development and advancement of cleaner alternative energy options, whereas controls on the fuels are shown to provide equal incentives to the development of cleaner and dirtier alternative fuels. This asymmetry in outcomes---regardless of actual cost functions---is the reason why controls on greenhouse gases are deemed favorable to direct fuel subsidies and mandates.

Estimating rate of insulin resistance in patients with preeclampsia using HOMA-IR index and comparison with nonpreeclampsia pregnant women.

PubMed

Abhari, Farideh Rezaei; Ghanbari Andarieh, Maryam; Farokhfar, Asadollah; Ahmady, Soleiman

2014-01-01

Women with preeclampsia, independent of obesity and glucose intolerance, exhibit insulin resistance during pregnancy. The purpose of the present study is to determine whether early diagnosis of insulin resistance during pregnancy can predict preeclampsia. Through a case-control study, 675 pregnant women were selected and their first trimester blood was taken. Their fasting blood glucose and insulin were also measured after diagnosis of preeclampsia by 20 weeks of pregnancy. Based on the experiments conducted on 675 women who were 20 weeks past their pregnancy, 375 cases with preeclampsia were selected and assigned to the case group. 35 other pregnant women were put in the control group. Diagnosis criteria for the participants included blood pressure above 140/90 and proteinuria above 300 mg or above +1. Both groups were matched according to age, parity, gestational age, and BMI. Homa-Irand rate of insulin resistance was calculated by HOMA-IR and patients were followed up. Homeostatic model assessments (HOMA-IR) revealed that the average insulin resistance increased during pregnancy among both the case and control groups. There was a significant difference between insulin resistance of these two groups in both first trimester and third trimester and after developing preeclampsia (P < 0.001, P = 0.021). Insulin-resistance of the group with preeclampsia was higher in first trimester prior to diagnosis as well as the third trimester after diagnosis compared to natural pregnancy under similar conditions. Measurement of insulin resistance in first trimester may be useful in predicting the risk of preeclampsia.

Plasma Levels of Matrix Metalloproteinase (MMP)-2, MMP-9 and Tumor Necrosis Factor-α in Chronic Hepatitis C Virus Patients.

PubMed

Abdel-Latif, Mohamed S

2015-01-01

In chronic HCV infection, pathological accumulation of the extracellular matrix is the main feature of liver fibrosis; that indicates the imbalanced rate of increased matrix synthesis to decreased breakdown of connective tissue proteins. Matrix metalloproteinases (MMPs) play a crucial role in remodeling of extracellular matrix. It is known that expression of MMPs is regulated by Tumor necrosis factor (TNF)-α. Also, levels of TNF-α in liver and serum are increased in chronic HCV patient. Accordingly, this study aimed to correlate the plasma levels of MMP-2, MMP-9 and TNF-α in chronic HCV patients with the pathogenesis of the liver. The current study was conducted on 15 fibrotic liver cases with detectable HCV RNA, 10 HCV cirrhotic liver cases, and 15 control subjects of matched age and sex. Plasma MMP-2, MMP-9 and TNF-α were measured by ELISA. Data revealed that the MMP2, MMP9 and TNF-α levels showed a significant elevation in chronic HCV patients compared to control group (p= 0.001). But, no significant correlation was observed in levels of MMP-2, MMP-9, and TNF-α between fibrotic and cirrhotic cases. MMP-2, MMP-9 and TNF-α showed high reproducibility to differentiate chronic HCV patients from control group. On the contrary, MMP-2, MMP-9 and TNF-α were not able to differentiate fibrotic from cirrhotic liver cases. Thus, MMP-2, MMP-9 and TNF-α could not be correlated with the progression of liver disease. Rather they could be used as prognostic markers of liver fibrosis.

Significance of 5,10-methylenetetrahydrofolate reductase gene variants in acute lymphoblastic leukemia in Indian population: an experimental, computational and meta-analysis.

PubMed

Bellampalli, Ravishankara; Phani, Nagaraja M; Bhat, Kamalakshi G; Prasad, Krishna; Bhaskaranand, Nalini; Guruprasad, Kanive P; Rai, Padmalatha S; Satyamoorthy, Kapaettu

2015-05-01

Acute lymphoblastic leukemia (ALL) arises due to several genetic alterations in progenitor cells, and methotrexate is frequently used as part of the treatment regimen. Although there is evidence for an effect of 5,10-methylenetetrahydrofolate reductase gene (MTHFR) C677T and A1298C variations on drug response in ALL, its risk association for ALL is still unresolved. In a case-control study of 203 patients with ALL and 246 controls and meta-analysis in the Indian population, we showed an insignificant association of MTHFR C677T and A1298C genotypes with childhood and adult ALL. Comprehensive in silico characterization of non-synonymous single nucleotide polymorphisms (nsSNPs) and SNPs of the 3' untranslated region (UTR) revealed nine nsSNPs as deleterious, and three SNPs in the 3'UTR could possibly alter the binding of miRNAs. The study revealed that several overlooked SNPs may contribute to the risk of ALL susceptibility and further studies of these SNPs with functional characterization in a large sample size are required to understand the significant role of MTHFR in ALL development.

Evidence for a link between TNFRSF11A and risk of breast cancer.

PubMed

Bonifaci, Núria; Palafox, Marta; Pellegrini, Pasquale; Osorio, Ana; Benítez, Javier; Peterlongo, Paolo; Manoukian, Siranoush; Peissel, Bernard; Zaffaroni, Daniela; Roversi, Gaia; Barile, Monica; Viel, Alessandra; Mariette, Frederique; Bernard, Loris; Radice, Paolo; Kaufman, Bella; Laitman, Yael; Milgrom, Roni; Friedman, Eitan; Sáez, María E; Climent, Fina; Soler, María Teresa; Diez, Orland; Balmaña, Judith; Lasa, Adriana; Ramón y Cajal, Teresa; Miramar, María-Dolores; de la Hoya, Miguel; Pérez-Segura, Pedro; Caldés, Trinidad; Moreno, Víctor; Urruticoechea, Ander; Brunet, Joan; Lázaro, Conxi; Blanco, Ignacio; Pujana, Miguel Angel; González-Suárez, Eva

2011-10-01

Intracellular signaling mediated by the receptor activator of nuclear factor-κB [Rank, encoded by the tumor necrosis factor receptor superfamily, member 11a (Tnfrsf11a) gene] is fundamental for mammary gland development in mice, regulating the expansion of stem and progenitor cell compartments. Conversely, Rank overexpression in mice promotes abnormal proliferation and impairs differentiation, leading to an increased incidence of tumorigenesis. Here, we show that a common genetic variant near the 5'-end of TNFRSF11A, rs7226991, is associated with breast cancer risk in the general population and among carriers of mutations in the breast cancer 2, early onset (BRCA2) gene. Akin to the results of the Cancer and Genetics Markers of Susceptibility initiative, combined analysis of rs7226991 in two Spanish case-control studies (1,365 controls and 1,323 cases in total) revealed a significant association with risk: odds ratio (OR) = 0.88, 95% confidence interval (CI) 0.78-0.98, P (trend) = 0.025. Subsequent examination of BRCA1 (n = 1,017) and BRCA2 (n = 885) mutation carriers revealed a consistent association in the latter group: weighted hazard ratio ((w)HR) = 0.70; 95% CI 0.55-0.88; and P (trend) = 0.003; compared to BRCA1 mutation carriers, (w)HR = 0.91; 95% CI 0.76-1.10; and P (trend) = 0.33. The results of this study need to be replicated in other populations and with larger numbers of BRCA1/2 mutation carriers.

Effects of Outlets on Cracking Risk and Integral Stability of Super-High Arch Dams

PubMed Central

Hu, Hang

2014-01-01

In this paper, case study on outlet cracking is first conducted for the Goupitan and Xiaowan arch dams. A nonlinear FEM method is then implemented to study effects of the outlets on integral stability of the Xiluodu arch dam under two loading conditions, i.e., normal loading and overloading conditions. On the basis of the case study and the numerical modelling, the outlet cracking mechanism, risk, and corresponding reinforcement measures are discussed. Furthermore, the numerical simulation reveals that (1) under the normal loading conditions, the optimal distribution of the outlets will contribute to the tensile stress release in the local zone of the dam stream surface and decrease the outlet cracking risk during the operation period. (2) Under the overloading conditions, the cracks initiate around the outlets, then propagate along the horizontal direction, and finally coalesce with those in adjacent outlets, where the yield zone of the dam has a shape of butterfly. Throughout this study, a dam outlet cracking risk control and reinforcement principle is proposed to optimize the outlet design, select the appropriate concrete material, strengthen the temperature control during construction period, design reasonable impounding scheme, and repair the cracks according to their classification. PMID:25152907

Interior surface materials in the home and the development of bronchial obstruction in young children in Oslo, Norway.

PubMed Central

Jaakkola, J J; Oie, L; Nafstad, P; Botten, G; Samuelsen, S O; Magnus, P

1999-01-01

OBJECTIVES: This study assessed the role of polyvinyl chloride (PVC) plastics and textile materials in the home in the development of bronchial obstruction during the first 2 years of life. METHODS: The study was a matched pair case-control study based on a cohort of 3754 newborns in Oslo in 1992 and 1993 who were followed up for 2 years. The case group consisted of 251 children with bronchial obstruction; the control group was matched one-to-one for date of birth. RESULTS: In conditional logistic regression analysis, the risk of bronchial obstruction was related to the presence of PVC flooring (adjusted odds ratio [OR] = 1.89; 95% confidence interval [CI] = 1.14, 3.14) and textile wall materials (adjusted OR = 1.58; 95% CI = 0.98, 2.54). The reference category was wood or parquet flooring and painted walls and ceiling. Further analysis revealed an exposure-response relationship between the assessed amount of PVC and other plasticizer-containing surface materials and the risk of bronchial obstruction. CONCLUSIONS: This study provides new evidence of the role of PVC and textile wall materials in the development of bronchial obstruction in young children. PMID:9949747

Interior surface materials in the home and the development of bronchial obstruction in young children in Oslo, Norway.

PubMed

Jaakkola, J J; Oie, L; Nafstad, P; Botten, G; Samuelsen, S O; Magnus, P

1999-02-01

This study assessed the role of polyvinyl chloride (PVC) plastics and textile materials in the home in the development of bronchial obstruction during the first 2 years of life. The study was a matched pair case-control study based on a cohort of 3754 newborns in Oslo in 1992 and 1993 who were followed up for 2 years. The case group consisted of 251 children with bronchial obstruction; the control group was matched one-to-one for date of birth. In conditional logistic regression analysis, the risk of bronchial obstruction was related to the presence of PVC flooring (adjusted odds ratio [OR] = 1.89; 95% confidence interval [CI] = 1.14, 3.14) and textile wall materials (adjusted OR = 1.58; 95% CI = 0.98, 2.54). The reference category was wood or parquet flooring and painted walls and ceiling. Further analysis revealed an exposure-response relationship between the assessed amount of PVC and other plasticizer-containing surface materials and the risk of bronchial obstruction. This study provides new evidence of the role of PVC and textile wall materials in the development of bronchial obstruction in young children.

The lack of selection bias in a snowball sampled case-control study on drug abuse.

PubMed

Lopes, C S; Rodrigues, L C; Sichieri, R

1996-12-01

Friend controls in matched case-control studies can be a potential source of bias based on the assumption that friends are more likely to share exposure factors. This study evaluates the role of selection bias in a case-control study that used the snowball sampling method based on friendship for the selection of cases and controls. The cases selected fro the study were drug abusers located in the community. Exposure was defined by the presence of at least one psychiatric diagnosis. Psychiatric and drug abuse/dependence diagnoses were made according to the Diagnostic and Statistical Manual of Mental Disorders (DSM-III-R) criteria. Cases and controls were matched on sex, age and friendship. The measurement of selection bias was made through the comparison of the proportion of exposed controls selected by exposed cases (p1) with the proportion of exposed controls selected by unexposed cases (p2). If p1 = p2 then, selection bias should not occur. The observed distribution of the 185 matched pairs having at least one psychiatric disorder showed a p1 value of 0.52 and a p2 value of 0.51, indicating no selection bias in this study. Our findings support the idea that the use of friend controls can produce a valid basis for a case-control study.

East Coast fever as a continued constraint to livestock improvement in Tanzania: a case study.

PubMed

Kambarage, D M

1995-08-01

An investigation was carried out into the cause of deaths in a recently established dairy farm with 211 animals. Clinical examination revealed that 14 out of 15 sick animals were depressed, pyrexic, anorexic and had variable degrees of respiratory distress and enlarged lymph nodes. These clinical signs were suggestive of East Coast fever (ECF). This was confirmed on positive demonstration of piroplasms and macroschizonts in blood and lymph node smears respectively, and on post-mortem examination. Parasites were also demonstrated in smears taken from 5 other animals which were pyrexic and had enlarged lymph nodes. Epidemiological investigation revealed that the occurrence of the disease was associated with contact with tick-infested pastures and unsatisfactory tick control due to improper dipping of the herd. The use of pasture by pastoral cattle which are rarely dipped also increased tick infestation. It is concluded that, unless effective disease control is applied ECF will continue to be a major killer disease of cattle in Tanzania.

Continuous Minor Bleeding from Tumor Surface in Patients with Craniopharyngiomas: Case Series of Nonobstructive Hydrocephalus.

PubMed

Shoji, Takuhiro; Kawaguchi, Tomohiro; Ogawa, Yoshikazu; Watanabe, Mika; Fujimura, Miki; Tominaga, Teiji

2018-06-05

Nonobstructive hydrocephalus in patients with craniopharyngiomas is uncommon. We describe our surgical series of 25 consecutive patients with craniopharyngioma who presented with hydrocephalus. Obstructive hydrocephalus was evident in most cases, and nonobstructive hydrocephalus was revealed in three cases. Even after improvement of cerebrospinal fluid (CSF) pathway obstruction by tumor removal, 10 patients (40%) required CSF diversion. Preoperative imaging study revealed thin intraventricular hemorrhage or superficial siderosis in five cases, and CSF examination revealed hemosiderin-laden phagocytes in one case. These findings indicate continuous bleeding into the CSF that might be associated with CSF malabsorption. We also describe a representative case of craniopharyngioma associated with nonobstructive hydrocephalus due to continuous minor bleeding from the tumor surface in a 62-year-old man with a complaint of disorientation and a decline in daily living activity.Our study demonstrated that minor bleeding into the CSF is a possible mechanism of the development of nonobstructive hydrocephalus in patients with craniopharyngiomas. Georg Thieme Verlag KG Stuttgart · New York.

Association of neural tube defects in children of mothers with MTHFR 677TT genotype and abnormal carbohydrate metabolism risk: a case-control study.

PubMed

Cadenas-Benitez, N M; Yanes-Sosa, F; Gonzalez-Meneses, A; Cerrillos, L; Acosta, D; Praena-Fernandez, J M; Neth, O; Gomez de Terreros, I; Ybot-González, P

2014-03-26

Abnormalities in maternal folate and carbohydrate metabolism have both been shown to induce neural tube defects (NTD) in humans and animal models. However, the relationship between these two factors in the development of NTDs remains unclear. Data from mothers of children with spina bifida seen at the Unidad de Espina Bífida del Hospital Infantil Virgen del Rocío (case group) were compared to mothers of healthy children with no NTD (control group) who were randomly selected from patients seen at the outpatient ward in the same hospital. There were 25 individuals in the case group and 41 in the control group. Analysis of genotypes for the methylenetetrahydrofolate reductase (MTHFR) 677CT polymorphism in women with or without risk factors for abnormal carbohydrate metabolism revealed that mothers who were homozygous for the MTHFR 677TT polymorphism and at risk of abnormal carbohydrate metabolism were more likely to have offspring with spina bifida and high levels of homocysteine, compared to the control group. The increased incidence of NTDs in mothers homozygous for the MTHFR 677TT polymorphism and at risk of abnormal carbohydrate metabolism stresses the need for careful metabolic screening in pregnant women, and, if necessary, determination of the MTHFR 677CT genotype in those mothers at risk of developing abnormal carbohydrate metabolism.

Early warnings for suicide attempt among Chinese rural population.

PubMed

Lyu, Juncheng; Wang, Yingying; Shi, Hong; Zhang, Jie

2018-06-05

This study was to explore the main influencing factors of attempted suicide and establish an early warning model, so as to put forward prevention strategies for attempted suicide. Data came from a large-scale case-control epidemiological survey. A sample of 659 serious suicide attempters was randomly recruited from 13 rural counties in China. Each case was matched by a community control for gender, age, and residence location. Face to face interviews were conducted for all the cases and controls with the same structured questionnaire. Univariate logistic regression was applied to screen the factors and multivariate logistic regression was used to excavate the predictors. There were no statistical differences between suicide attempters and the community controls in gender, age, and residence location. The Cronbach`s coefficients for all the scales used were above 0.675. The multivariate logistic regressions have revealed 12 statistically significant variables predicting attempted suicide, including less education, family history of suicide, poor health, mental problem, aspiration strain, hopelessness, impulsivity, depression, negative life events. On the other hand, social support, coping skills, and healthy community protected the rural residents from suicide attempt. The excavated warning predictors are significant clinical meaning for the clinical psychiatrist. Crisis intervention strategies in rural China should be informed by the findings from this research. Education, social support, healthy community, and strain reduction are all measures to decrease the likelihood of crises. Copyright © 2018. Published by Elsevier B.V.

Rare copy number variants in patients with congenital conotruncal heart defects.

PubMed

Xie, Hongbo M; Werner, Petra; Stambolian, Dwight; Bailey-Wilson, Joan E; Hakonarson, Hakon; White, Peter S; Taylor, Deanne M; Goldmuntz, Elizabeth

2017-03-01

Previous studies using different cardiac phenotypes, technologies and designs suggest a burden of large, rare or de novo copy number variants (CNVs) in subjects with congenital heart defects. We sought to identify disease-related CNVs, candidate genes, and functional pathways in a large number of cases with conotruncal and related defects that carried no known genetic syndrome. Cases and control samples were divided into two cohorts and genotyped to assess each subject's CNV content. Analyses were performed to ascertain differences in overall CNV prevalence and to identify enrichment of specific genes and functional pathways in conotruncal cases relative to healthy controls. Only findings present in both cohorts are presented. From 973 total conotruncal cases, a burden of rare CNVs was detected in both cohorts. Candidate genes from rare CNVs found in both cohorts were identified based on their association with cardiac development or disease, and/or their reported disruption in published studies. Functional and pathway analyses revealed significant enrichment of terms involved in either heart or early embryonic development. Our study tested one of the largest cohorts specifically with cardiac conotruncal and related defects. These results confirm and extend previous findings that CNVs contribute to disease risk for congenital heart defects in general and conotruncal defects in particular. As disease heterogeneity renders identification of single recurrent genes or loci difficult, functional pathway and gene regulation network analyses appear to be more informative. Birth Defects Research 109:271-295, 2017. © 2017 Wiley Periodicals, Inc. © 2017 Wiley Periodicals, Inc.

Role of matching in case-control studies of antimicrobial resistance.

PubMed

Cerceo, Elizabeth; Lautenbach, Ebbing; Linkin, Darren R; Bilker, Warren B; Lee, Ingi

2009-05-01

Of 57 case-control studies of antimicrobial resistance, matching was used in 23 (40%). Matched variables differed substantially across studies. Of these 23 matched case-control studies, 12 (52%) justified the use of matching, and 9 (39%) noted the strengths or limitations of this approach. Analysis that accounted for matching was performed in only 52% of the case-control studies.

New Predictive Parameters of Bell’s Palsy: Neutrophil to Lymphocyte Ratio and Platelet to Lymphocyte Ratio

PubMed Central

Atan, Doğan; İkincioğulları, Aykut; Köseoğlu, Sabri; Özcan, Kürşat Murat; Çetin, Mehmet Ali; Ensari, Serdar; Dere, Hüseyin

2015-01-01

Background: Bell’s palsy is the most frequent cause of unilateral facial paralysis. Inflammation is thought to play an important role in the pathogenesis of Bell’s palsy. Aims: Neutrophil to lymphocyte ratio (NLR) and platelet to lymphocyte ratio (PLR) are simple and inexpensive tests which are indicative of inflammation and can be calculated by all physicians. The aim of this study was to reveal correlations of Bell’s palsy and degree of paralysis with NLR and PLR. Study Design: Case-control study. Methods: The retrospective study was performed January 2010 and December 2013. Ninety-nine patients diagnosed as Bell’s palsy were included in the Bell’s palsy group and ninety-nine healthy individuals with the same demographic characteristics as the Bell’s palsy group were included in the control group. As a result of analyses, NLR and PLR were calculated. Results: The mean NLR was 4.37 in the Bell’s palsy group and 1.89 in the control group with a statistically significant difference (p<0.001). The mean PLR was 137.5 in the Bell’s palsy group and 113.75 in the control group with a statistically significant difference (p=0.008). No statistically significant relation was detected between the degree of facial paralysis and NLR and PLR. Conclusion: The NLR and the PLR were significantly higher in patients with Bell’s palsy. This is the first study to reveal a relation between Bell’s palsy and PLR. NLR and PLR can be used as auxiliary parameters in the diagnosis of Bell’s palsy. PMID:26167340

Methodology Series Module 2: Case-control Studies

PubMed Central

Setia, Maninder Singh

2016-01-01

Case-Control study design is a type of observational study. In this design, participants are selected for the study based on their outcome status. Thus, some participants have the outcome of interest (referred to as cases), whereas others do not have the outcome of interest (referred to as controls). The investigator then assesses the exposure in both these groups. The investigator should define the cases as specifically as possible. Sometimes, definition of a disease may be based on multiple criteria; thus, all these points should be explicitly stated in case definition. An important aspect of selecting a control is that they should be from the same ‘study base’ as that of the cases. We can select controls from a variety of groups. Some of them are: General population; relatives or friends; and hospital patients. Matching is often used in case-control control studies to ensure that the cases and controls are similar in certain characteristics, and it is a useful technique to increase the efficiency of the study. Case-Control studies can usually be conducted relatively faster and are inexpensive – particularly when compared with cohort studies (prospective). It is useful to study rare outcomes and outcomes with long latent periods. This design is not very useful to study rare exposures. Furthermore, they may also be prone to certain biases – selection bias and recall bias. PMID:27057012

Estimation Study of New Cancer Cases and Deaths in Wuwei, Hexi Corridor Region, China, 2018.

PubMed

Cao, Bo Yu; Li, Cheng Yun; Xu, Feng Lan; Liu, Xiao Qin; Yang, Yan Xu; Li, Jing; Gao, Cai Yun; Rong, You Ming; Li, Rong Cheng; Li, Ya Li; Zheng, Shan; Bai, Ya Na; Ye, Yan Cheng

2017-11-01

Population-based cancer registration data were collected to estimate the cancer incidence and mortality in Wuwei, Hexi Corridor Region, China in 2018. We used the 2011-2013 data to predict the number of new cases and deaths in 2018 and the 2003-2013 data to analyze trends in cancer incidence and mortality. The goal is to enable cancer prevention and control directions. Our results indicated that stomach cancer is the most common cancer. For all cancers combined, the incidence and mortality rates showed significantly increasing trends (+2.63% per year; P < 0.05 and +1.9% per year; P < 0.05). This study revealed a significant cancer burden among the population of this area. Cancer screening and prevention should be performed after an epidemiological study of the cause of the cancer is completed. Copyright © 2017 The Editorial Board of Biomedical and Environmental Sciences. Published by China CDC. All rights reserved.

Evaluating the use of friend or family controls in epidemiologic case-control studies.

PubMed

Zhong, Charlie; Cockburn, Myles; Cozen, Wendy; Voutsinas, Jenna; Lacey, James V; Luo, Jianning; Sullivan-Halley, Jane; Bernstein, Leslie; Wang, Sophia S

2017-02-01

Traditional methodologies for identifying and recruiting controls in epidemiologic case-control studies, such as random digit dialing or neighborhood walk, suffer from declining response rates. Here, we revisit the feasibility and comparability of using alternative sources of controls, specifically friend and family controls. We recruited from a recently completed case-control study of non-Hodgkin lymphoma (NHL) among women in Los Angeles County where controls from the parent study were ascertained by neighborhood walk. We calculated participation rates and compared questionnaire responses between the friend/family controls and the original matched controls from the parent study. Of the 182 NHL case patients contacted, 111 (61%) agreed to participate in our feasibility study. 70 (63%) provided contact information for potential friend and/or family member controls. We were able to successfully contact and recruit a friend/family member for 92% of the case patients. This represented 46 friend controls and 54 family controls. Family controls significantly differed from original matched controls by sex and household income. Other characteristics were similar between friend controls and the original study's neighborhood controls. The apparent comparability of neighborhood controls to friend and family controls among respondents in this study suggests that these alternative methods of control identification can serve as a complementary source of eligible controls in epidemiologic case-control studies. Copyright © 2016 The Authors. Published by Elsevier Ltd.. All rights reserved.

[Fumaria officinalis (fumitory)--clinical applications].

PubMed

Hentschel, C; Dressler, S; Hahn, E G

1995-07-10

Fumaria officinalis-fumitory or earth smoke-is a medicinal plant which has long had a role to play in empirical medicine in numerous countries. A review of the literature, however, reveals very few studies that support its use for dermatological indications (milk crust, eczema, scabies, etc.) or as a diuretic or laxative. This contrasts with its use to treat functional diseases of the biliary system. Although no placebo-controlled studies have been done, a number of empirical reports, clinical case reports and animal experimental studies have been published. Accordingly, in Germany, Fumaria officinalis is approved for the indication "colicky pain affecting the gallbladder and biliary system, together with the gastrointestinal tract".

Sociocultural factors that reduce risks of homicide in Dar es Salaam: a case control study

PubMed Central

Kibusi, Stephen Matthew; Ohnishi, Mayumi; Outwater, Anne; Seino, Kaoruko; Kizuki, Masashi; Takano, Takehito

2013-01-01

Objectives This study was performed to examine the potential contributions of sociocultural activities to reduce risks of death by homicide. Methods This study was designed as a case control study. Relatives of 90 adult homicide victims in Dar es Salaam Region, Tanzania, in 2005 were interviewed. As controls, 211 participants matched for sex and 5-year age group were randomly selected from the same region and interviewed regarding the same contents. Results Bivariate analysis revealed significant differences between victims and controls regarding educational status, occupation, family structure, frequent heavy drinking, hard drug use and religious attendance. Conditional logistic regression analysis indicated that the following factors were significantly related to not becoming victims of homicide: being in employment (unskilled labour: OR=0.04, skilled labour: OR=0.07, others: OR=0.04), higher educational status (OR=0.02), residence in Dar es Salaam after becoming an adult (compared with those who have resided in Dar es Salaam since birth: OR=3.95), living with another person (OR=0.07), not drinking alcohol frequently (OR=0.15) and frequent religious service attendance (OR=0.12). Conclusions Frequent religious service attendance, living in the same place for a long time and living with another person were shown to be factors that contribute to preventing death by homicide, regardless of place of residence and neighbourhood environment. Existing non-structural community resources and social cohesive networks strengthen individual and community resilience against violence. PMID:23322260

A sham case-control study of effectiveness of DTP-Hib-hepatitis B vaccine against rotavirus acute gastroenteritis in Kenya

PubMed Central

2014-01-01

Background In many GAVI-eligible countries, effectiveness of new vaccines will be evaluated by case-control methodology. To inform the design and assess selection bias of a future case-control study of rotavirus vaccine effectiveness (VE) in western Kenya, we performed a sham case-control study evaluating VE of pentavalent vaccine (DTP-Hib-HepB) against rotavirus acute gastroenteritis (AGE). Methods From ongoing rotavirus surveillance, we defined cases as children 12 weeks to 23 months old with EIA-confirmed rotavirus AGE. We enrolled one community-based and two hospital-based control groups. We collected vaccination status from cards at enrollment, or later in homes, and evaluated VE by logistic regression. Results We enrolled 91 cases (64 inpatient, 27 outpatient), 252 non-rotavirus AGE facility-based controls (unmatched), 203 non-AGE facility-based controls (age-matched) and 271 community controls (age-matched). Documented receipt of 3 pentavalent doses was 77% among cases and ranged from 81-86% among controls. One percent of cases and 0-2% of controls had no pentavalent doses. The adjusted odds ratio of three versus zero doses for being a case was 3.27 (95% CI 0.01-1010) for community controls and 0.69 (95% CI 0.06-7.75) for non-rotavirus hospital-based AGE controls, translating to VE of -227% and 31%, respectively, with wide confidence intervals. (No facility-based non-AGE controls were unvaccinated.) Similar results were found for ≥2 pentavalent doses and for severe rotavirus AGE. Conclusions The study showed that it is feasible to carry out a real case control in the study area, but this needs to be done as soon as the vaccine is introduced to capture the real impact. Sham case-control or pilot studies before vaccine introduction can be useful in designing case-control VE studies. PMID:24517198

A sham case-control study of effectiveness of DTP-Hib-hepatitis B vaccine against rotavirus acute gastroenteritis in Kenya.

PubMed

Khagayi, Sammy; Tate, Jacqueline E; Onkoba, Reuben; Parashar, Umesh; Odhiambo, Frank; Burton, Deron; Laserson, Kayla; Feikin, Daniel R

2014-02-11

In many GAVI-eligible countries, effectiveness of new vaccines will be evaluated by case-control methodology. To inform the design and assess selection bias of a future case-control study of rotavirus vaccine effectiveness (VE) in western Kenya, we performed a sham case-control study evaluating VE of pentavalent vaccine (DTP-Hib-HepB) against rotavirus acute gastroenteritis (AGE). From ongoing rotavirus surveillance, we defined cases as children 12 weeks to 23 months old with EIA-confirmed rotavirus AGE. We enrolled one community-based and two hospital-based control groups. We collected vaccination status from cards at enrollment, or later in homes, and evaluated VE by logistic regression. We enrolled 91 cases (64 inpatient, 27 outpatient), 252 non-rotavirus AGE facility-based controls (unmatched), 203 non-AGE facility-based controls (age-matched) and 271 community controls (age-matched). Documented receipt of 3 pentavalent doses was 77% among cases and ranged from 81-86% among controls. One percent of cases and 0-2% of controls had no pentavalent doses. The adjusted odds ratio of three versus zero doses for being a case was 3.27 (95% CI 0.01-1010) for community controls and 0.69 (95% CI 0.06-7.75) for non-rotavirus hospital-based AGE controls, translating to VE of -227% and 31%, respectively, with wide confidence intervals. (No facility-based non-AGE controls were unvaccinated.) Similar results were found for ≥2 pentavalent doses and for severe rotavirus AGE. The study showed that it is feasible to carry out a real case control in the study area, but this needs to be done as soon as the vaccine is introduced to capture the real impact. Sham case-control or pilot studies before vaccine introduction can be useful in designing case-control VE studies.

Sotos syndrome (cerebral gigantism): a clinical and radiological study of 14 cases from Saudi Arabia.

PubMed

al Rashed, A A; al-Jarallah, A A; Salih, M A; Kolawole, T; al-Jarallah, J

1999-06-01

Fourteen children (of Arab ethnic origin) with Sotos syndrome are described. They were referred to King Khalid University Hospital, Riyadh between July 1992 and June 1997. Their phenotypic characteristics were compared with established diagnostic criteria. There was a male:female ratio of 1.3:1 and a high rate of consanguinity (36%) among parents. At birth, 54% were large and about one-third showed increased height and occipitofrontal head circumference (OFHC). The neonatal histories revealed respiratory and feeding problems in 21%, followed later by delayed motor milestones and speech development in 57%. During childhood, weight, height and OFHC increased further to > 97th centile in 71%, 71% and 93%, respectively. A seizure disorder affected 43%, and 75% had mental retardation (IQ < 70). A non-specific EEG abnormality was found in half of those with seizures. Cranial CT/MRI showed ventricular dilatation in 15% and one patient had corpus callosum dysgenesis. Abdominal ultrasound revealed hydronephrosis in two patients. Radiological cephalometric measurements showed relative prognathism in cases of Sotos syndrome compared with controls (p = 0.003). The study highlights the importance of considering Sotos syndrome in children who present with psychomotor delay.

Multifactorial Analysis of a Biomarker Pool for Alzheimer Disease Risk in a North Indian Population.

PubMed

Talwar, Puneet; Grover, Sandeep; Sinha, Juhi; Chandna, Puneet; Agarwal, Rachna; Kushwaha, Suman; Kukreti, Ritushree

2017-01-01

Alzheimer disease (AD) is a progressive neurodegenerative disease with a complex multifactorial etiology. Here, we aim to identify a biomarker pool comprised of genetic variants and blood biomarkers as predictor of AD risk. We performed a case-control study involving 108 cases and 159 non-demented healthy controls to examine the association of multiple biomarkers with AD risk. The APOE genotyping revealed that ε4 allele frequency was significantly high (p value = 0.0001, OR = 2.66, 95% CI 1.58-4.46) in AD as compared to controls, whereas ε2 (p = 0.0430, OR = 0.29, CI 0.07-1.10) was overrepresented in controls. In biochemical assays, significant differences in levels of total copper, free copper, zinc, copper/zinc ratio, iron, epidermal growth factor receptor (EGFR), leptin, and albumin were also observed. The AD risk score (ADRS) as a linear combination of 6 candidate markers involving age, education status, APOE ε4 allele, levels of iron, Cu/Zn ratio, and EGFR was created using stepwise linear discriminant analysis. The area under the ROC curve of the ADRS panel for predicting AD risk was significantly high (AUC = 0.84, p < 0.0001, 95% CI 0.78-0.89, sensitivity = 70.0%, specificity = 83.8%) compared to individual parameters. These findings support the multifactorial etiology of AD and demonstrate the ability of a panel involving 6 biomarkers to discriminate AD cases from non-demented healthy controls. © 2017 S. Karger AG, Basel.

Epidemiology and control of scabies in an Egyptian village.

PubMed

Hegazy, A A; Darwish, N M; Abdel-Hamid, I A; Hammad, S M

1999-04-01

Some studies have addressed the epidemiology of scabies among rural populations in developing countries; however, the epidemiology of scabies among the rural population in Egypt is unknown. We sought to determine the magnitude of scabies infestation in an Egyptian village and to evaluate the control measures after 1 year. This study was carried out on 3147 residents of Mit-Moaned village in Dakahlia govemorate, Egypt. It was a cross-sectional follow-up study where the same individuals examined in round I were re-examined in round III. The two rounds were separated by a period of 1 year, during which infested patients were followed up and new cases were discovered (round II). Patients and their household contacts received treatment with topical permethrin. Patients showing resistance to permethrin received a single oral dose of ivermectin. In round III, the overall prevalence rate of scabies was reduced from 5.4% in round I to 1.1%. The incidence of new cases among susceptible persons during round II was 1.1%. Scabies was significantly (P < 0.05) more prevalent among families of large size, high crowding index at night, low socioeconomic standards, and those receiving their water supply from a hand pump. Children younger than 10 years showed the highest prevalence. Our data provide the first complete picture of the epidemiology of scabies in rural Egypt. The epidemiologic characteristics of the disease should be considered in the design of disease control programs for other villages with scabies epidemics. Our findings revealed that good control was achieved with the following: increased awareness and better case finding, education of the staff at the rural health unit, improved hygiene measures, and massive treatment campaigns using effective drugs such as topical permethrin and oral ivermectin.

Dermatoglyphics in kidney diseases: a review.

PubMed

Wijerathne, Buddhika T B; Meier, Robert J; Salgado, Sujatha S; Agampodi, Suneth B

2016-01-01

Kidney diseases are becoming a major cause of global burden with high mortality and morbidity. The origins of most kidney diseases are known, but for some the exact aetiology is not yet understood. Dermatoglyphics is the scientific study of epidermal ridge patterns and it has been used as a non-invasive diagnostic tool to detect or predict different medical conditions that have foetal origin. However, there have been a limited number of studies that have evaluated a dermatoglyphic relationship in different kidney diseases. The aim of this review was to systematically identify, review and appraise available literature that evaluated an association of different dermatoglyphic variables with kidney diseases. This review is reported according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses checklist. The PubMed(®) (Medline), POPLINE, Cochrane Library and Trip Database and grey literature sources such as OpenGrey, Google Scholar, and Google were searched to earliest date to 17 April 2014. Of the 36 relevant publications, 15 were included in the review. Of these studies, there are five case reports, seven case series and three comparative studies. Possible association of dermatoglyphics with Wilms tumor (WT) had been evaluated in two comparative studies and one case series that found fewer whorls and a lower mean total ridge count (TRC). Another study evaluated adult polycystic kidney disease (APCD) type III that revealed lower TRC means in all cases. All other case series and case reports describe dermatoglyphics in various kidney disease such as acro-renal-ocular syndrome, potter syndrome, kabuki makeup syndrome, neurofaciodigitorenal syndrome, syndactyly type V, ring chromosome 13 syndrome, trisomy 13 syndrome and sirenomelia. It is evident that whorl pattern frequency and TRC have been used widely to investigate the uncertainty related to the origin of several kidney diseases such as WT and APCD type III. However, small sample sizes, possibly methodological issues, and discrepancy in the make up between cases and control groups limits interpretation of any significant findings. Future studies with proper protocol, adequate cases, and control groups may provide stronger evidence to resolve uncertainty related to the aetiology of kidney diseases.

Multifactor-Dimensionality Reduction Reveals High-Order Interactions among Estrogen-Metabolism Genes in Sporadic Breast Cancer

PubMed Central

Ritchie, Marylyn D.; Hahn, Lance W.; Roodi, Nady; Bailey, L. Renee; Dupont, William D.; Parl, Fritz F.; Moore, Jason H.

2001-01-01

One of the greatest challenges facing human geneticists is the identification and characterization of susceptibility genes for common complex multifactorial human diseases. This challenge is partly due to the limitations of parametric-statistical methods for detection of gene effects that are dependent solely or partially on interactions with other genes and with environmental exposures. We introduce multifactor-dimensionality reduction (MDR) as a method for reducing the dimensionality of multilocus information, to improve the identification of polymorphism combinations associated with disease risk. The MDR method is nonparametric (i.e., no hypothesis about the value of a statistical parameter is made), is model-free (i.e., it assumes no particular inheritance model), and is directly applicable to case-control and discordant-sib-pair studies. Using simulated case-control data, we demonstrate that MDR has reasonable power to identify interactions among two or more loci in relatively small samples. When it was applied to a sporadic breast cancer case-control data set, in the absence of any statistically significant independent main effects, MDR identified a statistically significant high-order interaction among four polymorphisms from three different estrogen-metabolism genes. To our knowledge, this is the first report of a four-locus interaction associated with a common complex multifactorial disease. PMID:11404819

Combining matched and unmatched control groups in case-control studies.

PubMed

le Cessie, Saskia; Nagelkerke, Nico; Rosendaal, Frits R; van Stralen, Karlijn J; Pomp, Elisabeth R; van Houwelingen, Hans C

2008-11-15

Multiple control groups in case-control studies are used to control for different sources of confounding. For example, cases can be contrasted with matched controls to adjust for multiple genetic or unknown lifestyle factors and simultaneously contrasted with an unmatched population-based control group. Inclusion of different control groups for a single exposure analysis yields several estimates of the odds ratio, all using only part of the data. Here the authors introduce an easy way to combine odds ratios from several case-control analyses with the same cases. The approach is based upon methods used for meta-analysis but takes into account the fact that the same cases are used and that the estimated odds ratios are therefore correlated. Two ways of estimating this correlation are discussed: sandwich methodology and the bootstrap. Confidence intervals for the pooled estimates and a test for checking whether the odds ratios in the separate case-control studies differ significantly are derived. The performance of the method is studied by simulation and by applying the methods to a large study on risk factors for thrombosis, the MEGA Study (1999-2004), wherein cases with first venous thrombosis were included with a matched control group of partners and an unmatched population-based control group.

Contamination control in HVAC systems for aseptic processing area. Part I: Case study of the airflow velocity in a unidirectional airflow workstation with computational fluid dynamics.

PubMed

Ogawa, M

2000-01-01

A unidirectional airflow workstation for processing a sterile pharmaceutical product is required to be "Grade A," according to EU-GMP and WHO-GMP. These regulations have employed the wording of "laminar airflow" for unidirectional airflow, with an unclear definition given. This seems to have allowed many reports to describe discussion of airflow velocity only. The guidance values as to the velocity are expressed in various words of 90 ft/min, 0.45 m/sec, 0.3 m/sec, +/- 20%, or "homogeneous air speed." It has been also little clarified how variation in airflow velocity gives influences on contamination control of a workstation working with varying key characteristics, such as ceiling height, internal heat load, internal particle generation, etc. The present author has revealed following points from a case study using Computational Fluid Dynamics: the airflow characteristic in Grade A area shows no significant changes with varying the velocity of supplied airflow, and the particles generated from the operator will be exhausted outside Grade A area without contamination.

ABIN1 dysfunction as a genetic basis for lupus nephritis.

PubMed

Caster, Dawn J; Korte, Erik A; Nanda, Sambit K; McLeish, Kenneth R; Oliver, Rebecca K; G'sell, Rachel T; Sheehan, Ryan M; Freeman, Darrell W; Coventry, Susan C; Kelly, Jennifer A; Guthridge, Joel M; James, Judith A; Sivils, Kathy L; Alarcon-Riquelme, Marta E; Scofield, R Hal; Adrianto, Indra; Gaffney, Patrick M; Stevens, Anne M; Freedman, Barry I; Langefeld, Carl D; Tsao, Betty P; Pons-Estel, Bernardo A; Jacob, Chaim O; Kamen, Diane L; Gilkeson, Gary S; Brown, Elizabeth E; Alarcon, Graciela S; Edberg, Jeffrey C; Kimberly, Robert P; Martin, Javier; Merrill, Joan T; Harley, John B; Kaufman, Kenneth M; Reveille, John D; Anaya, Juan-Manuel; Criswell, Lindsey A; Vila, Luis M; Petri, Michelle; Ramsey-Goldman, Rosalind; Bae, Sang-Cheol; Boackle, Susan A; Vyse, Timothy J; Niewold, Timothy B; Cohen, Philip; Powell, David W

2013-11-01

The genetic factors underlying the pathogenesis of lupus nephritis associated with systemic lupus erythematosus are largely unknown, although animal studies indicate that nuclear factor (NF)-κB is involved. We reported previously that a knockin mouse expressing an inactive form of ABIN1 (ABIN1[D485N]) develops lupus-like autoimmune disease and demonstrates enhanced activation of NF-κB and mitogen-activated protein kinases in immune cells after toll-like receptor stimulation. In the current study, we show that ABIN1[D485N] mice develop progressive GN similar to class III and IV lupus nephritis in humans. To investigate the clinical relevance of ABIN1 dysfunction, we genotyped five single-nucleotide polymorphisms in the gene encoding ABIN1, TNIP1, in samples from European-American, African American, Asian, Gullah, and Hispanic participants in the Large Lupus Association Study 2. Comparing cases of systemic lupus erythematosus with nephritis and cases of systemic lupus erythematosus without nephritis revealed strong associations with lupus nephritis at rs7708392 in European Americans and rs4958881 in African Americans. Comparing cases of systemic lupus erythematosus with nephritis and healthy controls revealed a stronger association at rs7708392 in European Americans but not at rs4958881 in African Americans. Our data suggest that variants in the TNIP1 gene are associated with the risk for lupus nephritis and could be mechanistically involved in disease development via aberrant regulation of NF-κB and mitogen-activated protein kinase activity.

ABIN1 Dysfunction as a Genetic Basis for Lupus Nephritis

PubMed Central

Caster, Dawn J.; Korte, Erik A.; Nanda, Sambit K.; McLeish, Kenneth R.; Oliver, Rebecca K.; G'Sell, Rachel T.; Sheehan, Ryan M.; Freeman, Darrell W.; Coventry, Susan C.; Kelly, Jennifer A.; Guthridge, Joel M.; James, Judith A.; Sivils, Kathy L.; Alarcon-Riquelme, Marta E.; Scofield, R. Hal; Adrianto, Indra; Gaffney, Patrick M.; Stevens, Anne M.; Freedman, Barry I.; Langefeld, Carl D.; Tsao, Betty P.; Pons-Estel, Bernardo A.; Jacob, Chaim O.; Kamen, Diane L.; Gilkeson, Gary S.; Brown, Elizabeth E.; Alarcon, Graciela S.; Edberg, Jeffrey C.; Kimberly, Robert P.; Martin, Javier; Merrill, Joan T.; Harley, John B.; Kaufman, Kenneth M.; Reveille, John D.; Anaya, Juan-Manuel; Criswell, Lindsey A.; Vila, Luis M.; Petri, Michelle; Ramsey-Goldman, Rosalind; Bae, Sang-Cheol; Boackle, Susan A.; Vyse, Timothy J.; Niewold, Timothy B.; Cohen, Philip

2013-01-01

The genetic factors underlying the pathogenesis of lupus nephritis associated with systemic lupus erythematosus are largely unknown, although animal studies indicate that nuclear factor (NF)-κB is involved. We reported previously that a knockin mouse expressing an inactive form of ABIN1 (ABIN1[D485N]) develops lupus-like autoimmune disease and demonstrates enhanced activation of NF-κB and mitogen-activated protein kinases in immune cells after toll-like receptor stimulation. In the current study, we show that ABIN1[D485N] mice develop progressive GN similar to class III and IV lupus nephritis in humans. To investigate the clinical relevance of ABIN1 dysfunction, we genotyped five single-nucleotide polymorphisms in the gene encoding ABIN1, TNIP1, in samples from European-American, African American, Asian, Gullah, and Hispanic participants in the Large Lupus Association Study 2. Comparing cases of systemic lupus erythematosus with nephritis and cases of systemic lupus erythematosus without nephritis revealed strong associations with lupus nephritis at rs7708392 in European Americans and rs4958881 in African Americans. Comparing cases of systemic lupus erythematosus with nephritis and healthy controls revealed a stronger association at rs7708392 in European Americans but not at rs4958881 in African Americans. Our data suggest that variants in the TNIP1 gene are associated with the risk for lupus nephritis and could be mechanistically involved in disease development via aberrant regulation of NF-κB and mitogen-activated protein kinase activity. PMID:23970121

Changes in cognitive control in pre-manifest Huntington's disease examined using pre-saccadic EEG potentials - a longitudinal study.

PubMed

Ness, Vanessa; Bestgen, Anne-Kathrin; Saft, Carsten; Beste, Christian

2014-01-01

It is well-known that Huntington's disease (HD) affects saccadic processing. However, saccadic dysfunctions in HD may be seen as a result of dysfunctional processes occurring at the oculomotor level prior to the execution of saccades, i.e., at a pre-saccadic level. Virtually nothing is known about possible changes in pre-saccadic processes in HD. This study examines pre-saccadic processing in pre-manifest HD gene mutation carriers (pre-HDs) by using clinically available EEG measures. Error rates, pre-saccadic EEG potentials and saccade onset EEG potentials were measured in 14 pre-HDs and case-matched controls performing prosaccades and antisaccades in a longitudinal study over a 15-month period. The results show that pre-saccadic potentials were changed in pre-HDs, relative to controls and also revealed changes across the 15-month longitudinal period. In particular, pre-saccadic ERP in pre-HDs were characterized by lower amplitudes and longer latencies, which revealed longitudinal changes. These changes were observed for anti-saccades, but not for pro-saccades. Overt saccadic trajectories (potentials) were not different to those in controls, showing that pre-saccadic processes are sensitive to subtle changes in fronto-striatal networks in pre-HDs. Deficits in pre-saccadic processes prior the execution of an erroneous anti-saccade can be seen as an effect of dysfunctional cognitive control in HD. This may underlie saccadic abnormalities and hence a major phenotype of HD. Pre-saccadic EEG potentials preceding erroneous anti-saccades are sensitive to pre-manifest disease progression in HD.

Race-dependent association of sulfidogenic bacteria with colorectal cancer.

PubMed

Yazici, Cemal; Wolf, Patricia G; Kim, Hajwa; Cross, Tzu-Wen L; Vermillion, Karin; Carroll, Timothy; Augustus, Gaius J; Mutlu, Ece; Tussing-Humphreys, Lisa; Braunschweig, Carol; Xicola, Rosa M; Jung, Barbara; Llor, Xavier; Ellis, Nathan A; Gaskins, H Rex

2017-11-01

Colorectal cancer (CRC) incidence is higher in African Americans (AAs) compared with non-Hispanic whites (NHWs). A diet high in animal protein and fat is an environmental risk factor for CRC development. The intestinal microbiota is postulated to modulate the effects of diet in promoting or preventing CRC. Hydrogen sulfide, produced by autochthonous sulfidogenic bacteria, triggers proinflammatory pathways and hyperproliferation, and is genotoxic. We hypothesised that sulfidogenic bacterial abundance in colonic mucosa may be an environmental CRC risk factor that distinguishes AA and NHW. Colonic biopsies from uninvolved or healthy mucosa from CRC cases and tumour-free controls were collected prospectively from five medical centres in Chicago for association studies. Sulfidogenic bacterial abundance in uninvolved colonic mucosa of AA and NHW CRC cases was compared with normal mucosa of AA and NHW controls. In addition, 16S rDNA sequencing was performed in AA cases and controls. Correlations were examined among bacterial targets, race, disease status and dietary intake. AAs harboured a greater abundance of sulfidogenic bacteria compared with NHWs regardless of disease status. Bilophila wadsworthia -specific dsrA was more abundant in AA cases than controls. Linear discriminant analysis of 16S rRNA gene sequences revealed five sulfidogenic genera that were more abundant in AA cases. Fat and protein intake and daily servings of meat were significantly higher in AAs compared with NHWs, and multiple dietary components correlated with a higher abundance of sulfidogenic bacteria. These results implicate sulfidogenic bacteria as a potential environmental risk factor contributing to CRC development in AAs. 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/.

In vitro test systems supporting the development of improved pest control methods: a case study with chemical mixtures and bivalve biofoulers.

PubMed

Silva, Carlos; Nunes, Bruno; Nogueira, António Ja; Gonçalves, Fernando; Pereira, Joana L

2016-11-01

Using the bivalve macrofouler Corbicula fluminea, the suitability of in vitro testing as a stepping stone towards the improvement of control methods based on chemical mixtures was addressed in this study. In vitro cholinesterase (ChE) activity inhibition following single exposure of C. fluminea tissue to four model chemicals (the organophosphates dimethoate and dichlorvos, copper and sodium dodecyl phosphate [SDS]) was first assessed. Consequently, mixtures of dimethoate with copper and dichlorvos with SDS were tested and modelled; mixtures with ChE revealed synergistic interactions for both chemical pairs. These synergic combinations were subsequently validated in vivo and the increased control potential of these selected combinations was verified, with gains of up to 50% in C. fluminea mortality relative to corresponding single chemical treatments. Such consistency supports the suitability of using time- and cost-effective surrogate testing platforms to assist the development of biofouling control strategies incorporating mixtures.

Expression of TNF- and HNRNPL-related Immunoregulatory Long Non-coding RNA (THRIL) in Acute Myeloid Leukemia: Is There Any Correlation?

PubMed

Sayad, Arezou; Hajifathali, Abbas; Omrani, Mir Davood; Arsang-Jang, Shahram; Hamidieh, Amir Ali; Taheri, Mohammad

2018-06-01

Recently, Long noncoding RNAs (lncRNAs) have been described as regulatory factors for several biological mechanisms through regulating the gene expression. Among them the TNF and HNRNPL related immunoregulatory (THRIL) lncRNA may be involved in the pathogenesis of immune-related and inflammatory disease through controlling the expression of the tumor necrosis factor-alpha (TNF-α) expression. In this case-control study, we investigate the THRIL expression in blood 25 samples of de novo acute myeloid leukemia (AML) cases (10 females and 15 males, mean age±SD: 35.1±3.2 years) in comparison to 50 healthy age and sex matched controls (21 females and 29 males, mean age±SD: 34.9± 3.1) using real-time quantitative reverse transcription-PCR (qRT-PCR) in order to explore any association between THRIL and AML. Our results revealed that there was no significant difference in the expression level of THRIL lncRNA between AML patients and healthy individuals (p=0.2, 95% CI=-0.129-28.35). In addition, there was no significant association between male subgroup and THRIL expression as well as females (p=0.08, 95% CI=-0.197-19.251, p=0.4, 95% CI=-0.185-12.041, respectively). In comparison between control group and FAB classification subtypes of AML patients, there was not any significant association. In conclusion, our study showed that THRIL cannot be used as an informative biomarker for AML diagnosis, however, our results need to be clarify by evolution of more cases.

Comparison of radiographic joint space width and magnetic resonance imaging for prediction of knee replacement: A longitudinal case-control study from the Osteoarthritis Initiative.

PubMed

Eckstein, Felix; Boudreau, Robert; Wang, Zhijie; Hannon, Michael J; Duryea, Jeff; Wirth, Wolfgang; Cotofana, Sebastian; Guermazi, Ali; Roemer, Frank; Nevitt, Michael; John, Markus R; Ladel, Christoph; Sharma, Leena; Hunter, David J; Kwoh, C Kent

2016-06-01

To evaluate whether change in fixed-location measures of radiographic joint space width (JSW) and cartilage thickness by MRI predict knee replacement. Knees replaced between 36 and 60 months' follow-up in the Osteoarthritis Initiative were each matched with one control by age, sex and radiographic status. Radiographic JSW was determined from fixed flexion radiographs and subregional femorotibial cartilage thickness from 3 T MRI. Changes between the annual visit before replacement (T0) and 2 years before T0 (T-2) were compared using conditional logistic regression. One hundred and nineteen knees from 102 participants (55.5 % women; age 64.2 ± 8.7 [mean ± SD] years) were studied. Fixed-location JSW change at 22.5 % from medial to lateral differed more between replaced and control knees (case-control [cc] OR = 1.57; 95 % CI: 1.23-2.01) than minimum medial JSW change (ccOR = 1.38; 95 % CI: 1.11-1.71). Medial femorotibial cartilage loss displayed discrimination similar to minimum JSW, and central tibial cartilage loss similar to fixed-location JSW. Location-independent thinning and thickening scores were elevated prior to knee replacement. Discrimination of structural progression between knee pre-placement cases versus controls was stronger for fixed-location than minimum radiographic JSW. MRI displayed similar discrimination to radiography and suggested greater simultaneous cartilage thickening and loss prior to knee replacement. • Fixed-location JSW predicts surgical knee replacement more strongly than minimum JSW. • MRI predicts knee replacement with similar accuracy to radiographic JSW. • MRI reveals greater cartilage thinning and thickening prior to knee replacement.

Genome-Wide Associations and Functional Genomic Studies of Musculoskeletal Adverse Events in Women Receiving Aromatase Inhibitors

PubMed Central

Ingle, James N.; Schaid, Daniel J.; Goss, Paul E.; Liu, Mohan; Mushiroda, Taisei; Chapman, Judy-Anne W.; Kubo, Michiaki; Jenkins, Gregory D.; Batzler, Anthony; Shepherd, Lois; Pater, Joseph; Wang, Liewei; Ellis, Matthew J.; Stearns, Vered; Rohrer, Daniel C.; Goetz, Matthew P.; Pritchard, Kathleen I.; Flockhart, David A.; Nakamura, Yusuke; Weinshilboum, Richard M.

2010-01-01

Purpose We performed a case-control genome-wide association study (GWAS) to identify single nucleotide polymorphisms (SNPs) associated with musculoskeletal adverse events (MS-AEs) in women treated with aromatase inhibitors (AIs) for early breast cancer. Patients and Methods A nested case-control design was used to select patients enrolled onto the MA.27 phase III trial comparing anastrozole with exemestane. Cases were matched to two controls and were defined as patients with grade 3 or 4 MS-AEs (according to the National Cancer Institute's Common Terminology Criteria for Adverse Events v3.0) or those who discontinued treatment for any grade of MS-AE within the first 2 years. Genotyping was performed with the Illumina Human610-Quad BeadChip. Results The GWAS included 293 cases and 585 controls. A total of 551,358 SNPs were analyzed, followed by imputation and fine mapping of a region of interest on chromosome 14. Four SNPs on chromosome 14 had the lowest P values (2.23E-06 to 6.67E-07). T-cell leukemia 1A (TCL1A) was the gene closest (926-7000 bp) to the four SNPs. Functional genomic studies revealed that one of these SNPs (rs11849538) created an estrogen response element and that TCL1A expression was estrogen dependent, was associated with the variant SNP genotypes in estradiol-treated lymphoblastoid cells transfected with estrogen receptor alpha and was directly related to interleukin 17 receptor A (IL17RA) expression. Conclusion This GWAS identified SNPs associated with MS-AEs in women treated with AIs and with a gene (TCL1A) which, in turn, was related to a cytokine (IL17). These findings provide a focus for further research to identify patients at risk for MS-AEs and to explore the mechanisms for these adverse events. PMID:20876420

Genome-wide search followed by replication reveals genetic interaction of CD80 and ALOX5AP associated with systemic lupus erythematosus in Asian populations.

PubMed

Zhang, Yan; Yang, Jing; Zhang, Jing; Sun, Liangdan; Hirankarn, Nattiya; Pan, Hai-Feng; Lau, Chak Sing; Chan, Tak Mao; Lee, Tsz Leung; Leung, Alexander Moon Ho; Mok, Chi Chiu; Zhang, Lu; Wang, Yongfei; Shen, Jiangshan Jane; Wong, Sik Nin; Lee, Ka Wing; Ho, Marco Hok Kung; Lee, Pamela Pui Wah; Chung, Brian Hon-Yin; Chong, Chun Yin; Wong, Raymond Woon Sing; Mok, Mo Yin; Wong, Wilfred Hing Sang; Tong, Kwok Lung; Tse, Niko Kei Chiu; Li, Xiang-Pei; Avihingsanon, Yingyos; Rianthavorn, Pornpimol; Deekajorndej, Thavatchai; Suphapeetiporn, Kanya; Shotelersuk, Vorasuk; Ying, Shirley King Yee; Fung, Samuel Ka Shun; Lai, Wai Ming; Wong, Chun-Ming; Ng, Irene Oi Lin; Garcia-Barcelo, Maria-Merce; Cherny, Stacey S; Cui, Yong; Sham, Pak Chung; Yang, Sen; Ye, Dong-Qing; Zhang, Xue-Jun; Lau, Yu Lung; Yang, Wanling

2016-05-01

Genetic interaction has been considered as a hallmark of the genetic architecture of systemic lupus erythematosus (SLE). Based on two independent genome-wide association studies (GWAS) on Chinese populations, we performed a genome-wide search for genetic interactions contributing to SLE susceptibility. The study involved a total of 1 659 cases and 3 398 controls in the discovery stage and 2 612 cases and 3 441 controls in three cohorts for replication. Logistic regression and multifactor dimensionality reduction were used to search for genetic interaction. Interaction of CD80 (rs2222631) and ALOX5AP (rs12876893) was found to be significantly associated with SLE (OR_int=1.16, P_int_all=7.7E-04 at false discovery rate<0.05). Single nuclear polymorphism rs2222631 was found associated with SLE with genome-wide significance (P_all=4.5E-08, OR=0.86) and is independent of rs6804441 in CD80, whose association was reported previously. Significant correlation was observed between expression of these two genes in healthy controls and SLE cases, together with differential expression of these genes between cases and controls, observed from individuals from the Hong Kong cohort. Genetic interactions between BLK (rs13277113) and DDX6 (rs4639966), and between TNFSF4 (rs844648) and PXK (rs6445975) were also observed in both GWAS data sets. Our study represents the first genome-wide evaluation of epistasis interactions on SLE and the findings suggest interactions and independent variants may help partially explain missing heritability for complex diseases. 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/

A case for conflict across multiple domains: Memory and language impairments following damage to ventrolateral prefrontal cortex

PubMed Central

Novick, Jared M.; Kan, Irene P.; Trueswell, John C.; Thompson-Schill, Sharon L.

2013-01-01

Patients with focal lesions to the left inferior frontal gyrus (LIFG; BA 44/45) exhibit difficulty with language production and comprehension tasks, although the nature of their impairments has been somewhat difficult to characterize. No reported cases suggest that these patients are Broca's aphasics in the classic agrammatic sense. Recent case studies, however, do reveal a consistent pattern of deficit regarding their general cognitive processes: They are reliably impaired on tasks in which conflicting representations must be resolved by implementing top-down cognitive control (e.g., Stroop; memory tasks involving proactive interference). In the present study, we ask whether the language production and comprehension impairments displayed by a patient with circumscribed LIFG damage can best be understood within a general conflict resolution deficit account. We focus on one patient in particular—patient I.G.—and discuss the implications for language processing abilities as a consequence of a general cognitive control disorder. We compared I.G. and other frontal patients to age-matched control participants across four experiments. Experiment 1 tested participants’ general conflict resolution abilities within a modified working memory paradigm in an attempt to replicate prior case study findings. We then tested language production abilities on tasks of picture naming (Experiment 2) and verbal fluency (Experiment 3), tasks that generated conflict at the semantic and/or conceptual levels. Experiment 4 tested participants’ sentence processing and comprehension abilities using both online (eye movement) and offline measures. In this task, participants carried out spoken instructions containing a syntactic ambiguity, in which early interpretation commitments had to be overridden in order to recover an alternative, intended analysis of sentence meaning. Comparisons of I.G.'s performance with frontal and healthy control participants supported the following claim: I.G. suffers from a general conflict resolution impairment, which affects his ability to produce and comprehend language under specific conditions—namely, when semantic, conceptual, and/or syntactic representations compete and must be resolved. PMID:20183014

LPV H-infinity Control for the Longitudinal Dynamics of a Flexible Air-Breathing Hypersonic Vehicle

NASA Astrophysics Data System (ADS)

Hughes, Hunter Douglas

This dissertation establishes the method needed to synthesize and simulate an Hinfinity Linear Parameter-Varying (LPV) controller for a flexible air-breathing hypersonic vehicle model. A study was conducted to gain the understanding of the elastic effects on the open loop system. It was determined that three modes of vibration would be suitable for the hypersonic vehicle model. It was also discovered from the open loop study that there is strong coupling in the hypersonic vehicle states, especially between the angle of attack, pitch rate, pitch attitude, and the exible modes of the vehicle. This dissertation outlines the procedure for synthesizing a full state feedback Hinfinity LPV controller for the hypersonic vehicle. The full state feedback study looked at both velocity and altitude tracking for the exible vehicle. A parametric study was conducted on each of these controllers to see the effects of changing the number of gridding points in the parameter space and changing the parameter variation rate limits in the system on the robust performance of the controller. As a result of the parametric study, a 7 x 7 grid ranging from Mach 7 to Mach 9 in velocity and from 70,000 feet to 90,000 feet in altitude, and a parameter variation rate limit of [.5 200]T was used for both the velocity tracking and altitude tracking cases. The resulting Hinfinity robust performances were gamma = 2.2224 for the velocity tracking case and = 1:7582 for the altitude tracking case. A linear analysis was then conducted on five different selected trim points from the Hinfinity LPV controller. This was conducted for the velocity tracking and altitude tracking cases. The results of linear analysis show that there is a slight difference in the response of the Hinfinity LPV controller and the fixed point H infinity controller. For the tracking task, the Hinfinity controller responds more quickly, and has a lower Hinfinity performance value. Next, the H infinity LPV controller was simulated using the nonlinear flexible hypersonic model for both the velocity tracking and altitude tracking cases. Both of these cases were subject to a ramp input and a multi-step input both with and without perturbation in the model. The results of the simulation show that the tracking state follows the command signal successfully though the perturbed system does show some higher frequency characteristics in the non-tracking states. It was discovered that there is an issue with integral windup when switching takes place in the controller, so an algorithm was implemented to reset the integration of the error on the tracking state when the switch takes place. It was also seen that there was a decline in altitude when tracking velocity, and a large change in velocity that occurred during altitude tracking. These results lead to the decision to include a unity gain regulation state on velocity for the altitude tracking and the altitude for the velocity tracking during the output feedback control synthesis. The procedure for synthesizing an output feedback H infinity LPV controller for the hypersonic vehicle is also discussed in this dissertation. The output feedback design looked at velocity tracking and altitude tracking with rigid body motion variables for both the exible and rigid body hypersonic vehicle models. As with the full state feedback controller, a parametric study was conducted on each of these controllers to determine the number of gridding points in the parameter space and the parameter variation rate limits in the system. The parametric study reveals a 7x7 grid ranging from Mach 7 to Mach 9 in velocity and from 70,000 feet to 90,000 feet in altitude, and a parameter variation rate limit of [.1 200]T is preferable for both the velocity tracking and altitude tracking cases with both the exible and rigid body assumptions. The resulting Hinfinity robust performances were gamma = 113:2146 for the exible body velocity tracking case, gamma = 83.6931 for the rigid body velocity tracking case, gamma = 107:2043 for the exible body altitude tracking case, and gamma = 97:7403 for the rigid body altitude tracking case. A linear analysis was then conducted on five different selected trim points from the Hinfinity LPV controller. The results of this analysis show that there is a larger difference in the response of the Hinfinity LPV controller and the Hinfinity controller. For the tracking task, the Hinfinity controller responds more quickly, and has a lower Hinfinity performance value. Next, the Hinfinity LPV controller was applied to the exible nonlinear plant model. The rigid body controllers were applied to the exible plant model to see if the exible nature of the vehicle could be treated as a perturbation to the system. Additionally, there were simulations run both with and without sensor noise and parametric uncertainty. The results of simulation show that the rigid body controller is able to successfully apply to the exible body model for the velocity tracking case, but is unable to stabilize the altitude tracking case. It was also seen that the system is able to track the command signal while minimizing the variations seen in the altitude for the velocity tracking case and in the velocity during the altitude tracking case. Additionally, there was no obvious effect of perturbations in the system on the tracking state or secondary regulation state. There were high frequency responses associated with the other perturbed states.

Genome-wide association study using a high-density SNP-array and case-control design identifies a novel essential hypertension susceptibility locus in the promoter region of eNOS

PubMed Central

Salvi, Erika; Kutalik, Zoltán; Glorioso, Nicola; Benaglio, Paola; Frau, Francesca; Kuznetsova, Tatiana; Arima, Hisatomi; Hoggart, Clive; Tichet, Jean; Nikitin, Yury P.; Conti, Costanza; Seidlerova, Jitka; Tikhonoff, Valérie; Stolarz-Skrzypek, Katarzyna; Johnson, Toby; Devos, Nabila; Zagato, Laura; Guarrera, Simonetta; Zaninello, Roberta; Calabria, Andrea; Stancanelli, Benedetta; Troffa, Chiara; Thijs, Lutgarde; Rizzi, Federica; Simonova, Galina; Lupoli, Sara; Argiolas, Giuseppe; Braga, Daniele; D’Alessio, Maria C.; Ortu, Maria F.; Ricceri, Fulvio; Mercurio, Maurizio; Descombes, Patrick; Marconi, Maurizio; Chalmers, John; Harrap, Stephen; Filipovsky, Jan; Bochud, Murielle; Iacoviello, Licia; Ellis, Justine; Stanton, Alice V.; Laan, Maris; Padmanabhan, Sandosh; Dominiczak, Anna F.; Samani, Nilesh J.; Melander, Olle; Jeunemaitre, Xavier; Manunta, Paolo; Shabo, Amnon; Vineis, Paolo; Cappuccio, Francesco P.; Caulfield, Mark J.; Matullo, Giuseppe; Rivolta, Carlo; Munroe, Patricia B.; Barlassina, Cristina; Staessen, Jan A; Beckmann, Jacques S.; Cusi, Daniele

2012-01-01

Essential hypertension is a multi-factorial disorder and is the main risk factor for renal and cardiovascular complications. The research on the genetics of hypertension has been frustrated by the small predictive value of the discovered genetic variants. The HYPERGENES Project investigated associations between genetic variants and essential hypertension pursuing a two-stage study by recruiting cases and controls from extensively characterized cohorts recruited over many years in different European regions. The discovery phase consisted of 1,865 cases and 1,750 controls genotyped with 1M Illumina array. Best hits were followed up in a validation panel of 1,385 cases and 1,246 controls that were genotyped with a custom array of 14,055 markers. We identified a new hypertension susceptibility locus (rs3918226) in the promoter region of the endothelial nitric oxide synthase (eNOS) gene (odds ratio 1.54; 95% CI 1.37-1.73; combined p=2.58·10−13). A meta-analysis, using other in-silico/de novo genotyping data for a total of 21714 subjects, resulted in an overall odds ratio of 1.34 (95% CI 1.25-1.44, p=1.032·10−14). The quantitative analysis on a population-based sample revealed an effect size of 1.91 (95% CI 0.16-3.66) for systolic and 1.40 (95% CI 0.25-2.55) for diastolic blood pressure. We identified in-silico a potential binding site for ETS transcription-factors directly next to rs3918226, suggesting a potential modulation of eNOS expression. Biological evidence links eNOS with hypertension, as it is a critical mediator of cardiovascular homeostasis and blood pressure control via vascular tone regulation. This finding supports the hypothesis that there may be a causal genetic variation at this locus. PMID:22184326

Fall Hazards Within Senior Independent Living: A Case-Control Study.

PubMed

Kim, Daejin; Portillo, Margaret

2018-01-01

The main purpose of this research was to identify significant relationships between environmental hazards and older adults' falling. Falls can present a major health risk to older persons. Identifying potential environmental hazards that increase fall risks can be effective for developing fall prevention strategies that can create safer residential environments for older adults. The research included a retrospective analysis of 449 fall incident reports in two case-control buildings. In the homes of 88 older adults residing in independent living, an observational study was conducted to identify environmental hazards using two assessment tools including Westmead Home Safety Assessment (WeHSA) and resident interviews. A fall history analysis indicated that falls occurred in the bathroom were significantly associated with hospitalization. The observational study revealed that the bathroom was the most common place for environmental hazards. The research showed, with increasing age and use of mobility assistive aids, there was a corresponding increase in the total number of environmental hazards. Home hazards were significantly and independently associated with the incidence rate of falls. In other words, the high fall rate building included more environmental hazards compared to the low fall rate building while controlling for residents' age and mobility. The current study provides empirical evidence of the link between environmental hazards and older adults' falling, which is useful for developing effective fall intervention design strategies.

Genetic variability in energy balance and pancreatic cancer risk in a population-based case-control study in Minnesota.

PubMed

Zhang, Jianjun; Dhakal, Ishwori B; Zhang, Xuemei; Prizment, Anna E; Anderson, Kristin E

2014-03-01

Accumulating evidence suggests that energy imbalance plays a role in pancreatic carcinogenesis. However, it remains unclear whether single-nucleotide polymorphisms (SNPs) in genes regulating energy homeostasis influence pancreatic cancer risk. We investigated this question in a case-control study conducted from 1994 to 1998. Patients (n = 173) were ascertained from hospitals in the Twin Cities and Mayo Clinic, Minnesota. Control subjects (n = 476) were identified from the general population and frequency matched to patients by age and sex. Seven SNPs were evaluated in relation to pancreatic cancer using unconditional logistic regression. After adjustment for confounders, the leucine/proline or proline/proline genotype of the neuropeptide Y (NPY) gene rs16139 was associated with a lower risk than the leucine/leucine genotype (odds ratio, 0.40 [95% confidence interval, 0.15-0.91]). Conversely, an increased risk was observed for the glycine/arginine or arginine/arginine genotype of the adrenoceptor β2, surface (ADRB2) gene rs1042713 as compared with the glycine/glycine genotype (odds ratio, 1.52 [95% confidence interval, 1.01-2.31]). This study first reveals that SNPs in genes modulating energy intake (NPY) and energy expenditure (ADRB2) altered pancreatic cancer risk. If confirmed by other studies, our findings may shed new light on the etiology and prevention of pancreatic cancer.

Persistent pain in postmastectomy patients: Comparison of psychophysical, medical, surgical, and psychosocial characteristics between patients with and without pain

PubMed Central

Schreiber, Kristin L.; Martel, Marc O.; Shnol, Helen; Shaffer, John R.; Greco, Carol; Viray, Nicole; Taylor, Lauren N.; McLaughlin, Meghan; Brufsky, Adam; Ahrendt, Gretchen; Bovbjerg, Dana; Edwards, Robert R.; Belfer, Inna

2013-01-01

Persistent postmastectomy pain (PPMP) is a major individual and public health problem. Increasingly, psychosocial factors such as anxiety and catastrophizing are being revealed as crucial contributors to individual differences in pain processing and outcomes. Furthermore, differences in patients’ responses to standardized quantitative sensory testing (QST) may aid in the discernment of who is at risk for acute and chronic pain after surgery. However, characterization of the variables that differentiate those with PPMP from those whose acute postoperative pain resolves is currently incomplete. The purpose of this study was to investigate important surgical, treatment-related, demographic, psychophysical, and psychosocial factors associated with PPMP by comparing PPMP cases with PPMP-free controls. Pain was assessed using the breast cancer pain questionnaire to determine the presence and extent of PPMP. Psychosocial and demographic information were gathered via phone interview, and women underwent a QST session. Consistent with most prior research, surgical and disease-related variables did not differ significantly between cases and controls. Furthermore, treatment with radiation, chemotherapy, or hormone therapy was also not more common among those with PPMP. In contrast, women with PPMP did show elevated levels of distress-related psychosocial factors such as anxiety, depression, catastrophizing, and somatization. Finally, QST in nonsurgical body areas revealed increased sensitivity to mechanical stimulation among PPMP cases, while thermal pain responses were not different between the groups. These findings suggest that an individual’s psychophysical and psychosocial profile may be more strongly related to PPMP than their surgical treatment. PMID:23290256

Prevalence and clinical significance of antinuclear antibodies in Iranian women with unexplained recurrent miscarriage

PubMed Central

Molazadeh, Morteza; Karimzadeh, Hadi; Azizi, Mohammad R

2014-01-01

Background: Antinuclear antibodies (ANAs) in women with recurrent miscarriage have been reported. The presence of moderate to high titers of these antibodies represents an autoimmune condition that can endanger the health of the fetus in pregnant women. Objective: In this study, we evaluated the prevalence of ANAs in Iranian women with a history of two or more unexplained abortion. Materials and Methods: 560 women with unexplained recurrent miscarriage and 560 healthy controls accounted for this study over a period of 13 months. ANAs were detected by indirect immunofluorescence technique. Results: ANAs were detected in 74 of 560 (13.21%) patient with recurrent miscarriage, and in only 5 of 560 (0.9%) controls (p<0.001). ANA positivity was generally found with low-positive results (1.40-1.80) in about 38% of positive cases, whereas moderate titres (1.160-1.320) and high titres (>1.640) were seen in about 46% and 16% of cases respectively. Finally evaluating of microscopic ANA patterns revealed that about half of positive cases had antibodies against DNA- histone complex, associated with systemic lupus erythematosus disease. Conclusion: Antinuclear antibodies are not uncommon in women with unexplained recurrent miscarriage, suggesting the possible role of an autoimmune disorder on abortion, at least in a subgroup of patients. PMID:24799884

Comparative analysis of bones, mites, soil chemistry, nematodes and soil micro-eukaryotes from a suspected homicide to estimate the post-mortem interval.

PubMed

Szelecz, Ildikó; Lösch, Sandra; Seppey, Christophe V W; Lara, Enrique; Singer, David; Sorge, Franziska; Tschui, Joelle; Perotti, M Alejandra; Mitchell, Edward A D

2018-01-08

Criminal investigations of suspected murder cases require estimating the post-mortem interval (PMI, or time after death) which is challenging for long PMIs. Here we present the case of human remains found in a Swiss forest. We have used a multidisciplinary approach involving the analysis of bones and soil samples collected beneath the remains of the head, upper and lower body and "control" samples taken a few meters away. We analysed soil chemical characteristics, mites and nematodes (by microscopy) and micro-eukaryotes (by Illumina high throughput sequencing). The PMI estimate on hair 14 C-data via bomb peak radiocarbon dating gave a time range of 1 to 3 years before the discovery of the remains. Cluster analyses for soil chemical constituents, nematodes, mites and micro-eukaryotes revealed two clusters 1) head and upper body and 2) lower body and controls. From mite evidence, we conclude that the body was probably brought to the site after death. However, chemical analyses, nematode community analyses and the analyses of micro-eukaryotes indicate that decomposition took place at least partly on site. This study illustrates the usefulness of combining several lines of evidence for the study of homicide cases to better calibrate PMI inference tools.

Hyperendemic pulmonary tuberculosis in peri-urban areas of Karachi, Pakistan

PubMed Central

Akhtar, Saeed; White, Franklin; Hasan, Rumina; Rozi, Shafquat; Younus, Mohammad; Ahmed, Faiza; Husain, Sara; Khan, Bilquis Sana

2007-01-01

Background Currently there are very limited empirical data available on the prevalence of pulmonary tuberculosis among residents of marginalized settings in Pakistan. This study assessed the prevalence of pulmonary tuberculosis through active case detection and evaluated predictors of pulmonary tuberculosis among residents of two peri-urban neighbourhoods of Karachi, Pakistan. Methods A cross-sectional study was conducted in two peri-urban neighbourhoods from May 2002 to November 2002. Systematic sampling design was used to select households for inclusion in the study. Consenting subjects aged 15 years or more from selected households were interviewed and, whenever possible, sputum samples were obtained. Sputum samples were subjected to direct microscopy by Ziehl-Neelson method, bacterial culture and antibiotic sensitivity tests. Results The prevalence (per 100,000) of pulmonary tuberculosis among the subjects aged 15 years or more, who participated in the study was 329 (95% confidence interval (CI): 195 – 519). The prevalence (per 100,000) of pulmonary tuberculosis adjusted for non-sampling was 438 (95% CI: 282 – 651). Other than cough, none of the other clinical variables was significantly associated with pulmonary tuberculosis status. Analysis of drug sensitivity pattern of 15 strains of Mycobacterium tuberculosis revealed that one strain was resistant to isoniazid alone, one to streptomycin alone and one was resistant to isoniazid and streptomycin. The remaining 12 strains were susceptible to all five drugs including streptomycin, isoniazid, rifampicin, ethambutol, and pyrazinamide. Conclusion This study of previously undetected tuberculosis cases in an impoverished peri-urban setting reveals the poor operational performance of Pakistan's current approach to tuberculosis control; it also demonstrates a higher prevalence of pulmonary tuberculosis than current national estimates. Public health authorities may wish to augment health education efforts aimed at prompting health-seeking behaviour to facilitate more complete and earlier case detection. Such efforts to improve passive case-finding, if combined with more accessible DOTS infra-structure for treatment of detected cases, may help to diminish the high tuberculosis-related morbidity and mortality in marginalized populations. The economics of implementing a more active approach to case finding in resource-constrained setting also deserve further study. PMID:17477870

Evaluating psychiatric case-control studies using the STROBE (STrengthening the Reporting of OBservational Studies in Epidemiology) statement.

PubMed

Goi, Pedro Domingues; Goi, Julia Domingues; Cordini, Kariny Larissa; Ceresér, Keila Mendes; Rocha, Neusa Sica da

2014-01-01

Case-control studies are important in developing clinical and public health knowledge. The STROBE statement (STrengthening the Reporting of OBservational Studies in Epidemiology) was developed to establish a checklist of items that should be included in articles reporting observational studies. Our aim was to analyze whether the psychiatric case-control articles published in Brazilian journals with CAPES Qualis rating B1/B2 in 2009 conformed with the STROBE statement. Descriptive study on psychiatric papers published in Brazilian journals, within the Postgraduate Medical Program on Psychiatry, at Universidade Federal do Rio Grande do Sul. All psychiatric case-control studies from Brazilian Qualis B1/B2 journals of psychiatry, neurology and public health in 2009 were analyzed. The four most specific items of the STROBE statement were used to evaluate whether these studies fitted within the case-control parameters: 1) selection of cases and controls; 2) controlling for bias; 3) statistical analysis; and 4) presentation of results. Sixteen case-control studies were identified, of which eleven (68.75%) were in psychiatry-focused journals. From analysis using the STROBE statement, all of the articles conformed with item 1; two (12.5%) completely conformed with item 2; none completely conformed with item 3; and only three (18.8%) conformed with item 4. The case-control studies analyzed here did not completely conform with the four STROBE statement items for case-control design. In view of the inadequate methodology of the published studies, these findings justify focusing on research and methodology and expanding the investigations on adherence of studies to their designs.

Prevalence and determinants of anaemia among children aged 0-59 months in a rural region of Armenia: a case-control study.

PubMed

Demirchyan, Anahit; Petrosyan, Varduhi; Sargsyan, Viktoria; Hekimian, Kim

2016-05-01

Despite the trend of increasing prevalence of childhood anaemia in Armenia, no studies exploring its risk factors have been conducted in the country. The present study aimed to investigate the prevalence and determinants of childhood anaemia in rural Armenia. Blood Hb level was measured among a representative sample of children using the HemoCue Hb201+ analyser. The revealed cases with anaemia were compared with randomly selected non-anaemic controls. Mothers of cases and controls were interviewed. Logistic and linear regression models were fitted to identify the risk factors of anaemia and low Hb level, respectively. Talin communities, Aragatsotn Province, Armenia. Children under 5 years of age in Talin region. Of the 729 studied children, 32·4% were anaemic with 14·7% having moderate/severe anaemia. Infants were the most affected group with 51·1% being anaemic before 6 months and 67·9% at 6-12 months of age. Fitted regression models identified the following predictors of anaemia: younger age, male gender, shorter birth length, anaemia during pregnancy, lower meal frequency per day, lack of meat in the diet, using dung cakes for heating and living in a community that received an incomplete set of nutrition interventions. The study identified several modifiable risk factors that could be targeted to reduce childhood anaemia in rural Armenia and, possibly, in rural areas in other low-/middle-income countries. The suggested interventions include prevention and treatment of anaemia during pregnancy, provision of adequate complementary feeding to children with inclusion of meat in their daily diet and reduction of their exposure to biomass fuel smoke.

Beyond Thiamine: Treatment for Cognitive Impairment in Korsakoff's Syndrome.

PubMed

Johnson, Justin M; Fox, Valerie

2018-03-27

Wernicke's encephalopathy is a condition whose treatment many consultation-liaison psychiatrists know quite well. Less clear, however, is the treatment of its dementia disorder descendent, the Korsakoff's syndrome (KS). This article seeks to review treatment options and provide recommendations for consultation-liaison psychiatrists treating cognitive impairment in KS. In this nonsystematic review, we reviewed PubMed, CINAHL Plus, and Google Scholar for published reports and studies regarding treatment of KS. The literature revealed case reports and placebo-controlled trials of various medications for treatment of KS, though the samples sizes were small and were mostly case reports. There is more attention devoted toward medications used in other dementia disorders, such as donepezil and memantine. The literature revealed more studies around behavioral interventions recommended for treatment of memory impairment in KS and they focused on cognitive remediation and environmental adaptation, such as the use of PDAs or alarms. There is no single, well-studied intervention proven effective as a primary treatment for cognitive impairment in KS. An approach of using environmental modifications in a well-structured living environment, combined with various cognitive interventions, such as pictorial associations, and perhaps a trial of donepezil or memantine, likely represents the best strategy for treating long-term cognitive impairment in KS. Published by Elsevier Inc.

Contingent Valuation of Residents' Attitudes and Willingness-to-Pay for Non-point Source Pollution Control: A Case Study in AL-Prespa, Southeastern Albania

NASA Astrophysics Data System (ADS)

Grazhdani, Dorina

2015-07-01

Recently, local governments in Albania have begun paying attention to management of small watershed, because there are specific boundaries and people living within a watershed basin tend to be more concerned about the basin's environmental, economic, and social development. But this natural resource management and non-point source (NPS) pollution control is still facing challenges. Albanian part of Prespa Park (AL-Prespa) is a good case study, as it is a protected wetland area of high biodiversity and long human history. In this framework, this study was undertaken, the main objectives of which were to explore: (1) the attitudes of the residents toward NPS pollution control, (2) their willingness-to-pay for improving water quality, and (3) factors affecting the residents' willingness-to-pay. Descriptive statistics, one-way ANOVA (analysis of variance), Chi-square analysis, and multivariate data analysis techniques were used. Findings strongly suggested that the residents' attitudes toward NPS pollution control in this area were positive. With the combination of two major contingent valuation methods—dichotomous choice and open-ended formats, the survey results indicated that the average yearly respondents' WTP was €6.4. The survey revealed that residents' yearly income and education level were the main factors affecting residents' willingness-to-pay for NPS pollution control in this area, and there was no significant correlation between residents' yearly income and their education level. The current study would lay a solid foundation on decision-making in further NPS pollution control and public participation through community-based watershed management policies in AL-Prespa watershed and similar areas.

Contingent Valuation of Residents' Attitudes and Willingness-to-Pay for Non-point Source Pollution Control: A Case Study in AL-Prespa, Southeastern Albania.

PubMed

Grazhdani, Dorina

2015-07-01

Recently, local governments in Albania have begun paying attention to management of small watershed, because there are specific boundaries and people living within a watershed basin tend to be more concerned about the basin's environmental, economic, and social development. But this natural resource management and non-point source (NPS) pollution control is still facing challenges. Albanian part of Prespa Park (AL-Prespa) is a good case study, as it is a protected wetland area of high biodiversity and long human history. In this framework, this study was undertaken, the main objectives of which were to explore: (1) the attitudes of the residents toward NPS pollution control, (2) their willingness-to-pay for improving water quality, and (3) factors affecting the residents' willingness-to-pay. Descriptive statistics, one-way ANOVA (analysis of variance), Chi-square analysis, and multivariate data analysis techniques were used. Findings strongly suggested that the residents' attitudes toward NPS pollution control in this area were positive. With the combination of two major contingent valuation methods--dichotomous choice and open-ended formats, the survey results indicated that the average yearly respondents' WTP was 6.4. The survey revealed that residents' yearly income and education level were the main factors affecting residents' willingness-to-pay for NPS pollution control in this area, and there was no significant correlation between residents' yearly income and their education level. The current study would lay a solid foundation on decision-making in further NPS pollution control and public participation through community-based watershed management policies in AL-Prespa watershed and similar areas.

Genome-scale case-control analysis of CD4+ T-cell DNA methylation in juvenile idiopathic arthritis reveals potential targets involved in disease.

PubMed

Ellis, Justine A; Munro, Jane E; Chavez, Raul A; Gordon, Lavinia; Joo, Jihoon E; Akikusa, Jonathan D; Allen, Roger C; Ponsonby, Anne-Louise; Craig, Jeffrey M; Saffery, Richard

2012-11-13

Juvenile Idiopathic Arthritis (JIA) is a complex autoimmune rheumatic disease of largely unknown cause. Evidence is growing that epigenetic variation, particularly DNA methylation, is associated with autoimmune disease. However, nothing is currently known about the potential role of aberrant DNA methylation in JIA. As a first step to addressing this knowledge gap, we have profiled DNA methylation in purified CD4+ T cells from JIA subjects and controls. Genomic DNA was isolated from peripheral blood CD4+ T cells from 14 oligoarticular and polyarticular JIA cases with active disease, and healthy age- and sex-matched controls. Genome-scale methylation analysis was carried out using the Illumina Infinium HumanMethylation27 BeadChip. Methylation data at >25,000 CpGs was compared in a case-control study design. Methylation levels were significantly different (FDR adjusted p<0.1) at 145 loci. Removal of four samples exposed to methotrexate had a striking impact on the outcome of the analysis, reducing the number of differentially methylated loci to 11. The methotrexate-naive analysis identified reduced methylation at the gene encoding the pro-inflammatory cytokine IL32, which was subsequently replicated using a second analysis platform and a second set of case-control pairs. Our data suggests that differential T cell DNA methylation may be a feature of JIA, and that reduced methylation at IL32 is associated with this disease. Further work in larger prospective and longitudinal sample collections is required to confirm these findings, assess whether the identified differences are causal or consequential of disease, and further investigate the epigenetic modifying properties of therapeutic regimens.

PubMed Central

GUZZO, A.S.; MEGGIOLARO, A.; MANNOCCI, A.; TECCA, M.; SALOMONE, I.

2015-01-01

Summary Introduction. "Umberto I" Teaching Hospital adopted 'Conley scale' as internal procedure for fall risk assessment, with the aim of strengthening surveillance and improving prevention and management of impatient falls. Materials and methods. Case-control study was performed. Fall events from 1st March 2012 to 30th September 2013 were considered. Cases have been matched for gender, department and period of hospitalization with two or three controls when it is possible. A table including intrinsic and extrinsic 'fall risk' factors, not foreseen by Conley Scale, and setted up after a literature overview was built. Univariate analysis and conditional logistic regression model have been performed. Results. 50 cases and 102 controls were included. Adverse event 'fall' were associated with filled Conley scale at the admission to care unit (OR = 4.92, 95%CI = 2.34-10.37). Univariate analysis identified intrinsic factors increasing risk of falls: dizziness (OR = 3.22; 95%CI = 1.34-7.75), psychomotor agitation (OR = 2.61; 95%CI = 1.06-6.43); and use of means of restraint (OR = 5.05 95%CI = 1.77-14.43). Conditional logistic regression model revealed a significant association with the following variables: use of instruments of restraint (HR = 5.54, 95%CI = 1.2- 23.80), dizziness (OR = 3.97, 95%CI = 1.22-12.89). Discussion. Conley Scale must be filled at the access of patient to care unit. There were no significant differences between cases and controls with regard to risk factors provided by Conley, except for the use of means of restraint. Empowerment strategies for Conley compilation are needed. PMID:26789993

Preoperative sclerotherapy of facial venous malformations: impact on surgical parameters and long-term follow-up.

PubMed

James, Charles A; Braswell, Leah E; Wright, Lonnie B; Roberson, Paula K; Moore, Mary B; Waner, Milton; Buckmiller, Lisa M

2011-07-01

To analyze the operative benefit of preoperative sclerotherapy of facial venous malformations and assess long-term patient outcome. Preoperative sclerotherapy was performed in 24 consecutive patients referred before resection of facial venous malformation. Pretreatment imaging was reviewed for malformation dimensions (length, width, and height), and volumes were estimated. Sclerotherapy was performed with 3% sodium tetradecyl in the first 15 patients and 98% dehydrated alcohol in the remaining 9 patients. Operative blood loss, operative time, transfusion requirement, and hospital stay were recorded. Operative time per lesion volume and operative blood loss per lesion volume were calculated. Results were compared with 15 historical control patients who underwent resection of facial venous malformations without preoperative sclerotherapy. Long-term follow-up of study and control patients was performed. Compared with controls, patients undergoing preoperative venous sclerotherapy were significantly older (P = .0206) and had larger lesions in all three dimensions (height, P = .0002; length, P = .0010; width, P = .0004). Patients receiving sclerotherapy had shorter operative time per lesion volume (P < .0001) and reduced blood loss per lesion volume (P < .0001). Neither hospital stay nor the need for blood transfusion differed from the control patients (P = .2449 and P = .6857). Mild periprocedural complications were encountered in 12.5% of cases, and nerve paresis occurred in 8.3% of cases. Long-term follow-up revealed retreatment was required in 2 of 24 patients (8.3%). Preoperative sclerotherapy of venous malformations was associated with less operative time per lesion volume and less operative blood loss per lesion volume. Long-term follow-up revealed a low need for retreatment. Copyright © 2011 SIR. Published by Elsevier Inc. All rights reserved.

Recall bias in melanoma risk factors and measurement error effects: a nested case-control study within the Norwegian Women and Cancer Study.

PubMed

Parr, Christine L; Hjartåker, Anette; Laake, Petter; Lund, Eiliv; Veierød, Marit B

2009-02-01

Case-control studies of melanoma have the potential for recall bias after much public information about the relation with ultraviolet radiation. Recall bias has been investigated in few studies and only for some risk factors. A nested case-control study of recall bias was conducted in 2004 within the Norwegian Women and Cancer Study: 208 melanoma cases and 2,080 matched controls were invited. Data were analyzed for 162 cases (response, 78%) and 1,242 controls (response, 77%). Questionnaire responses to several host factors and ultraviolet exposures collected at enrollment in 1991-1997 and in 2004 were compared stratified on case-control status. Shifts in responses were observed among both cases and controls, but a shift in cases was observed only for skin color after chronic sun exposure, and a larger shift in cases was observed for nevi. Weighted kappa was lower for cases than for controls for most age intervals of sunburn, sunbathing vacations, and solarium use. Differences in odds ratio estimates of melanoma based on prospective and retrospective measurements indicate measurement error that is difficult to characterize. The authors conclude that indications of recall bias were found in this sample of Norwegian women, but that the results were inconsistent for the different exposures.

Thymidine kinase 2 and alanyl-tRNA synthetase 2 deficiencies cause lethal mitochondrial cardiomyopathy: case reports and review of the literature.

PubMed

Mazurova, Stella; Magner, Martin; Kucerova-Vidrova, Vendula; Vondrackova, Alzbeta; Stranecky, Viktor; Pristoupilova, Anna; Zamecnik, Josef; Hansikova, Hana; Zeman, Jiri; Tesarova, Marketa; Honzik, Tomas

2017-07-01

Cardiomyopathy is a common manifestation in neonates and infants with mitochondrial disorders. In this study, we report two cases manifesting with fatal mitochondrial hypertrophic cardiomyopathy, which include the third known patient with thymidine kinase 2 deficiency and the ninth patient with alanyl-tRNA synthetase 2 deficiency. The girl with thymidine kinase 2 deficiency had hypertrophic cardiomyopathy together with regression of gross motor development at the age of 13 months. Neurological symptoms and cardiac involvement progressed into severe myopathy, psychomotor arrest, and cardiorespiratory failure at the age of 22 months. The imaging methods and autoptic studies proved that she suffered from unique findings of leucoencephalopathy, severe, mainly cerebellar neuronal degeneration, and hepatic steatosis. The girl with alanyl-tRNA synthetase 2 deficiency presented with cardiac failure and underlying hypertrophic cardiomyopathy within 12 hours of life and subsequently died at 9 weeks of age. Muscle biopsy analyses demonstrated respiratory chain complex I and IV deficiencies, and histological evaluation revealed massive mitochondrial accumulation and cytochrome c oxidase-negative fibres in both cases. Exome sequencing in the first case revealed compound heterozygozity for one novel c.209T>C and one previously published c.416C>T mutation in the TK2 gene, whereas in the second case homozygozity for the previously described mutation c.1774C>T in the AARS2 gene was determined. The thymidine kinase 2 mutations resulted in severe mitochondrial DNA depletion (to 12% of controls) in the muscle. We present, for the first time, severe leucoencephalopathy and hepatic steatosis in a patient with thymidine kinase 2 deficiency and the finding of a ragged red fibre-like image in the muscle biopsy in a patient with alanyl-tRNA synthetase 2 deficiency.

Attitudes of veterinarians, animal control directors, and county prosecutors in Michigan regarding enforcement of state animal cruelty legislation.

PubMed

Stolt, L B; Johnson-Ifearulundu, Y J; Kaneene, J B

1997-12-15

To determine attitudes of veterinarians, animal control directors, and country prosecutors in Michigan toward enforcement of state animal cruelty legislation and to identify factors associated with whether veterinarians would report suspected cases of animal cruelty. Survey. Questionnaires were sent to 1,146 Michigan Veterinary Medical Association member veterinarians, 139 animal control directors, and 83 county prosecutors in Michigan. 740 (65%) veterinarians, 70 (50%) animal control directors, and 43 (52%) prosecutors responded. Six hundred forty six of 735 (88%) veterinarians reported having treated an animal that they believed had been a victim of animal cruelty, but only 192 of 719 (27%) had ever reported a case of animal cruelty, and only 217 of 734 (30%) had ever testified in an animal cruelty case. Logistic regression analysis of responses revealed that the only factor associated with whether veterinarians would report cases of suspected animal cruelty was the potential reactions of the involved clients to the accusation of animal cruelty. Veterinarians who rated reaction of the involved client as important, very important, or essential to their decision whether to report a case of animal cruelty were less likely to report such cases than were veterinarians who rated potential client reaction as somewhat important or unimportant. Concern about potential client reaction was the most important factor in whether veterinarians would report cases of suspected animal cruelty.

Investigation of increased listeriosis revealed two fishery production plants with persistent Listeria contamination in Finland in 2010.

PubMed

Nakari, U-M; Rantala, L; Pihlajasaari, A; Toikkanen, S; Johansson, T; Hellsten, C; Raulo, S M; Kuusi, M; Siitonen, A; Rimhanen-Finne, R

2014-11-01

In 2010, a marked increase in listeriosis incidence was observed in Finland. Listeria monocytogenes PFGE profile 96 was responsible for one-fifth of the reported cases and a cluster of PFGE profile 62 was also detected. Investigations revealed two fishery production plants with persistent Listeria contamination. It appears likely that the plants were at least partly responsible for the increase of listeriosis. Epidemiological investigation revealed that 57% (31/54) of cases with underlying immunosuppressive condition or medication reported eating gravad or cold-smoked fish. Two public notices were issued by THL and Evira informing which groups were most at risk from the effects of listeriosis and should therefore be cautious in consuming certain products. Systematic sampling of foods and adequate epidemiological investigation methods are required to identify the sources of Listeria infections. Continuous control measures at fishery production plants producing risk products are essential.

Parental age and unbalanced Robertsonian translocations associated with Down syndrome and Patau syndrome: comparison with maternal and paternal age effects for 47, +21 and 47, +13.

PubMed

Hook, E B

1984-10-01

Data are analysed on livebirths with trisomic syndromes associated with unbalanced Robertsonian translocations born from 1968 to 1981 and reported to the New York State Chromosome Registry. The maternal ages of reported cases were compared with those of the livebirths in the general population who were born in the same year. The number of translocations studied, the mean case-control differences in years in maternal age (and the standard errors of the mean) were respectively, as follows: D/21 mutants, n = 36, -0.1 (+/- 0.9); G/21 mutants, n = 46, +1.5 (+/-0.8); D/13 mutants, n = 16, +0.6 (+/-1.5); D/21 inherited, n = 12, -1.0 (+/-1.4); G/21 inherited, n = 3, -0.3 (+/-4.4); and D/13 inherited, n = 6, +2.1 (+/-2.4). There was little change in any category if the few cases diagnosed prenatally were included. Only the value for the G/21 mutants is significantly different from zero at the 0.05 level. (The results on G/21 mutants in maternal age are consistent with an earlier Japanese report of an increase of about 2 years over the control values.) The distribution of maternal ages suggests that G/21 mutants may be produced both by maternal age-independent and maternal age-dependent components. The data on D/21 mutants, however, do not indicate the negative association with maternal age reported in Japan. Differences between this study and the Japanese study in analyses of controls may explain this slight variation. But in any event both studies reveal no evidence for an increase in maternal age for unbalanced D/21 mutant or D/21 inherited translocations associated with Down syndrome. This is evidence against the hypothesis that relaxed selection during gestation, after recognition of pregnancy, accounts for the maternal age effects of 47, +21. In comparison with the results on Robertsonian translocations, the case-control differences in maternal age in years (and the standard errors of the mean) for 47, +21 for 2148 livebirths was +4.6 (+/-0.2), and for 2354 cases including those diagnosed prenatally was +5.3 (+/-0.2). The most likely value for an estimated total of 2292 cases of 47, +21 livebirths that would have been reported in the absence of prenatal diagnosis was +5.1 (+/-0.2). For 47, +13, for 98 livebirths the mean case-control difference in maternal age in years was +1.5 (+/-0.7) and for 116 cases including those diagnosed prenatally was +3.2 (+/-0.7).(ABSTRACT TRUNCATED AT 400 WORDS)

Studies of Environmental Risk Factors in Amyotrophic Lateral Sclerosis (ALS) and a Phase I Clinical Trial of L-Serine.

PubMed

Bradley, Walter G; Miller, R X; Levine, T D; Stommel, E W; Cox, P A

2018-01-01

β-N-Methylamino-L-alanine (BMAA) has been linked to Guam ALS/PDC and shown to produce neurodegeneration in vitro and in vivo (Drosophila, mice, rats, primates). BMAA misincorporation into neuroproteins produces protein misfolding and is inhibited by L-serine. Case-control studies in Northern New England indicate that living near to water-bodies with cyanobacterial blooms increases the risk of developing amyotrophic lateral sclerosis (ALS). The distribution of addresses of ALS cases in New Hampshire, Vermont, and Florida was compared to that of controls. Areas of statistically significantly increased numbers of ALS cases were examined for sources of environmental toxins. A phase I trial of oral L-serine was performed in 20 ALS patients (0.5 to 15 g twice daily). Safety and tolerability were assessed by comparing the rate of deterioration with 430 matched placebo controls. The distribution of residential addresses of ALS cases in New England and Florida revealed many areas where the age- and gender-adjusted frequency of ALS was greater than expected (P < 0.01). GIS studies of these "hot spots" in relation to sources of environmental pollutants, like cyanobacterial blooms, Superfund and Brownfield sites, and landfills, are ongoing. In the phase I trial of L-serine, two patients withdrew from because of gastrointestinal side effects. Three patients died during the study, which was about the expected number. The ALSFRS-R in the L-serine-treated patients showed a dose-related decrease in the rate of progression (34% reduction in slope, P = 0.044). The non-random distribution of addresses of ALS patients suggests that residential exposure to environmental pollutants may play an important role in the etiology of ALS. L-Serine in doses up to 15 g twice daily appears to be safe in patients with ALS. Exploratory studies of efficacy suggested that L-serine might slow disease progression. A phase II trial is planned.

Fasciculations after rattlesnake envenomations: a retrospective statewide poison control system study.

PubMed

Vohra, R; Cantrell, F L; Williams, S R

2008-02-01

Rattlesnake envenomation occasionally results in repetitive small-muscle fasciculations known as myokymia. We report the results of a retrospective inquiry of this phenomenon from a statewide poison center's database. Data was obtained from a poison system database for the years 2000-2003, inclusive, for rattlesnake envenomation exposures coded as having fasciculations. A total of 47 cases were identified, and nine other cases were found from previously published literature. There was no consistent temporal pattern by monthly analyses in incidence or proportion of reported snakebites with myokymia. All four of the reviewed cases with myokymia of the shoulders were intubated and none without it were intubated. A review of four consecutive years of data revealed no pattern to correlate the incidence of fasciculations with the month. The development of respiratory failure associated with myokymia, sometimes despite antivenom, is a newly reported occurrence. Clinicians are reminded to monitor closely airway and inspiratory capacity in patients with severe myokymia.

Complicated rheumatic mitral stenosis presenting in an elderly patient and the challenges in its management.

PubMed

Ganeshpure, Swapnil; Vaidya, Gaurang Nandkishor; Gattani, Vipul

2012-12-05

A 76 -year-old lady with a recent diagnosis of rheumatic heart disease (RHD), and a history of repeated lower respiratory tract infections, came with symptoms of gastritis unrelated to the primary disease but further diagnostic study in the hospital revealed poorly controlled atrial fibrillation, grossly dilated left atrium with two large left atrial thrombi and mitral valve area<1 cm(2). It was decided that the best approach in our patient would be mitral valve replacement with mechanical prosthesis. Despite the usual trend of using bioprosthesis in the elderly, our decision was influenced by the fact that the patient would need chronic anticoagulation for atrial fibrillation in any case. The purpose of our case presentation is to illustrate a late-presenting case of RHD with unusual associations and the challenges to choose the best possible management.

Science-Technology-Society literacy in college non-majors biology: Comparing problem/case studies based learning and traditional expository methods of instruction

NASA Astrophysics Data System (ADS)

Peters, John S.

This study used a multiple response model (MRM) on selected items from the Views on Science-Technology-Society (VOSTS) survey to examine science-technology-society (STS) literacy among college non-science majors' taught using Problem/Case Studies Based Learning (PBL/CSBL) and traditional expository methods of instruction. An initial pilot investigation of 15 VOSTS items produced a valid and reliable scoring model which can be used to quantitatively assess student literacy on a variety of STS topics deemed important for informed civic engagement in science related social and environmental issues. The new scoring model allows for the use of parametric inferential statistics to test hypotheses about factors influencing STS literacy. The follow-up cross-institutional study comparing teaching methods employed Hierarchical Linear Modeling (HLM) to model the efficiency and equitability of instructional methods on STS literacy. A cluster analysis was also used to compare pre and post course patterns of student views on the set of positions expressed within VOSTS items. HLM analysis revealed significantly higher instructional efficiency in the PBL/CSBL study group for 4 of the 35 STS attitude indices (characterization of media vs. school science; tentativeness of scientific models; cultural influences on scientific research), and more equitable effects of traditional instruction on one attitude index (interdependence of science and technology). Cluster analysis revealed generally stable patterns of pre to post course views across study groups, but also revealed possible teaching method effects on the relationship between the views expressed within VOSTS items with respect to (1) interdependency of science and technology; (2) anti-technology; (3) socioscientific decision-making; (4) scientific/technological solutions to environmental problems; (5) usefulness of school vs. media characterizations of science; (6) social constructivist vs. objectivist views of theories; (7) impact of cultural religious/ethical views on science; (8) tentativeness of scientific models, evidence and predictions; (9) civic control of technological developments. This analysis also revealed common relationships between student views which would not have been revealed under the original unique response model (URM) of VOSTS and also common viewpoint patterns that warrant further qualitative exploration.

TS Gene Polymorphisms Correlate with Susceptibility to Acute Lymphocytic Leukemia in Children.

PubMed

Zou, Runyin; He, Xiangling; Wu, Yanpeng; Tian, Xin; You, Yalan; Zheng, Mincui; Li, Wanli; Zou, Hui; Liu, Hua; Zhu, Xiujuan; Zhu, Chengguang

2017-06-24

BACKGROUND Acute lymphocytic leukemia (ALL) in children is a clonal disease of bone marrow hematopoietic stem cells. This study aimed to explore the associations between MTHFR or TS genetic polymorphisms and susceptibility to acute lymphocytic leukemia (ALL) in children. MATERIAL AND METHODS This case-control study included 79 ALL patients (case group) and 102 non-ALL patients (control group). Post-PCR genomic DNA sequencing revealed MTHFR C677T and MTHFR A1298C genotypes and TS polymorphisms. The χ² test was used to compare differences in MTHFR and TS polymorphisms (including genotypic and allelic distributions) between groups. Logistic regression analysis was used to determine genetic polymorphisms and ALL risk associations. RESULTS The results indicated that TS 3R allele frequency was significantly higher in the case group than in the control group (χ²=7.45, P<0.05). The MTHFR C677T and MTHFR A1298C polymorphisms were not associated with ALL risk. Compared to the TS 2R/2R genotype, subjects carrying TS 2R/3R were twice as likely to develop ALL, and the TS 3R/3R+3R/4R genotype carried a 4-fold higher risk of developing ALL (OR=1.96, CI: 1.14-3.36). CONCLUSIONS The TS genetic polymorphisms increase the ALL risk. The TS 3R allele was a risk factor for ALL. There were no associations between MTHFR C677T or MTHFR A1298C polymorphisms and ALL susceptibility.

A Case-Control Study of Risk Factors for Bovine Brucellosis Seropositivity in Peninsular Malaysia

PubMed Central

Anka, Mukhtar Salihu; Hassan, Latiffah; Khairani-Bejo, Siti; Zainal, Mohamed Abidin; Mohamad, Ramlan bin; Salleh, Annas; Adzhar, Azri

2014-01-01

Bovine brucellosis was first reported in Peninsular Malaysia in 1950. A subsequent survey conducted in the country revealed that the disease was widespread. Current knowledge on the potential risk factors for brucellosis occurrence on cattle farms in Malaysia is lacking. Therefore, we conducted a case-control study to identify the potential herd-level risk factors for bovine brucellosis occurrence in four states in the country, namely Kelantan, Pahang, Selangor and Negeri Sembilan. Thirty-five cases and 36 controls of herds were selected where data on farm management, biosecurity, medical history and public health were collected. Multivariable logistic regression identified that Brucella seropositive herds were more likely to; have some interaction with wildlife (OR 8.9, 95% CI = 1.59–50.05); originated from farms where multiple species such as buffalo/others (OR 41.8, 95% CI = 3.94–443.19) and goat/sheep (OR 8.9, 95%Cl = 1.10–71.83) were reared, practice extensive production system (OR 13.6, 95% CI 1.31–140.24) and have had episodes of abortion in the past (OR 51.8, 95% CI = 4.54–590.90) when compared to seronegative herds. Considering the lack of information on the epidemiology of bovine brucellosis in peninsular Malaysia and absence of information on preventing the inception or spread of the disease, this report could contribute to the on-going area-wise national brucellosis eradication program. PMID:25265020

A case-control study of risk factors for bovine brucellosis seropositivity in Peninsular Malaysia.

PubMed

Anka, Mukhtar Salihu; Hassan, Latiffah; Khairani-Bejo, Siti; Zainal, Mohamed Abidin; Mohamad, Ramlan Bin; Salleh, Annas; Adzhar, Azri

2014-01-01

Bovine brucellosis was first reported in Peninsular Malaysia in 1950. A subsequent survey conducted in the country revealed that the disease was widespread. Current knowledge on the potential risk factors for brucellosis occurrence on cattle farms in Malaysia is lacking. Therefore, we conducted a case-control study to identify the potential herd-level risk factors for bovine brucellosis occurrence in four states in the country, namely Kelantan, Pahang, Selangor and Negeri Sembilan. Thirty-five cases and 36 controls of herds were selected where data on farm management, biosecurity, medical history and public health were collected. Multivariable logistic regression identified that Brucella seropositive herds were more likely to; have some interaction with wildlife (OR 8.9, 95% CI = 1.59-50.05); originated from farms where multiple species such as buffalo/others (OR 41.8, 95% CI = 3.94-443.19) and goat/sheep (OR 8.9, 95%Cl = 1.10-71.83) were reared, practice extensive production system (OR 13.6, 95% CI 1.31-140.24) and have had episodes of abortion in the past (OR 51.8, 95% CI = 4.54-590.90) when compared to seronegative herds. Considering the lack of information on the epidemiology of bovine brucellosis in peninsular Malaysia and absence of information on preventing the inception or spread of the disease, this report could contribute to the on-going area-wise national brucellosis eradication program.

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

Mori, T.; Kato, Y.; Shimamine, T.

The causes of death of 144 Japanese autopsy cases during 1945-1975, who had been intravascularly injected with Thorotrast in life, were compared with those of non-Thorotrast-administered autopsy cases in the same age bracket, recorded in the Annals of Japanese Pathological Autopsy Cases during 1958-1973. This comparison revealed that the incidence of malignant hepatic tumors was more than 10 times higher in the Thorotrast-administered cases. The increase was attributable to an increased incidence of hemangioendothelioma and cholangiocarcinoma of the liver. The only significant increase of liver cirrhosis found to exist in the Thorotrast group occurred in the female cases. Some ofmore » the Thorotrast-administered cases were found to have developed myeloid leukemia and erythroleukemia. There was also a significant increase in the number of cases of aplastic anemia in the Thorotrast group, but clinically and pathologically these were atypical. Lymphatic leukemia was not observed. No significant difference was found in the incidence of either malignant lymphomas or osteosarcomas in the Thorotrast group and the controls. Lung cancer, on the other hand, showed a significantly higher incidence among the controls than among the Thorotrast-administered cases.« less

Trajectory of cartilage loss within 4 years of knee replacement--a nested case-control study from the osteoarthritis initiative.

PubMed

Eckstein, F; Boudreau, R M; Wang, Z; Hannon, M J; Wirth, W; Cotofana, S; Guermazi, A; Roemer, F; Nevitt, M; John, M R; Ladel, C; Sharma, L; Hunter, D J; Kwoh, C K

2014-10-01

Knee replacement (KR) represents a clinically important endpoint of knee osteoarthritis (KOA). Here we examine the 4-year trajectory of femoro-tibial cartilage thickness loss prior to KR vs non-replaced controls. A nested case-control study was performed in Osteoarthritis Initiative (OAI) participants: Cases with KR between 12 and 60 month (M) follow-up were each matched with one control (without KR through 60M) by age, sex, and baseline radiographic stage. Femoro-tibial cartilage thickness was measured quantitatively using magnetic resonance imaging (MRI) at the annual visit prior to KR occurrence (T0), and at 1-4 years prior to T0 (T-1 to T-4). Cartilage loss between cases and controls was compared using paired t-tests and conditional logistic regression. One hundred and eighty-nine knees of 164 OAI participants [55% women; age 64 ± 8.7; body mass index (BMI) 29 ± 4.5] had KR and longitudinal cartilage data. Comparison of annualized slopes of change across all time points revealed greater loss in the central medial tibia (primary outcome) in KRs than in controls [94 ± 137 vs 55 ± 104 μm; P = 0.0017 (paired t); odds ratio (OR) 1.36 (95% confidence interval (CI): 1.08-1.70)]. The discrimination was stronger for T-2 → T0 [OR 1.61 (1.33-1.95), n = 127] than for T-1 → T0, and was not statistically significant for intervals prior to T-2 [i.e., T-4 → T-2, OR 0.97 (0.67-1.41), n = 60]. Results were similar for total medial femoro-tibial cartilage loss (secondary outcome), and when adjusting for pain and BMI. In knees with subsequent replacement, cartilage loss accelerates in the 2 years, and particularly in the year prior to surgery, compared with controls. Whether slowing this cartilage loss can delay KR remains to be determined. Copyright © 2014 Osteoarthritis Research Society International. Published by Elsevier Ltd. All rights reserved.

Intestinal Protozoal Parasites in Diarrheal Children and Associated Risk Factors at Yirgalem Hospital, Ethiopia: A Case-Control Study.

PubMed

Firdu, Teshome; Abunna, Fufa; Girma, Mekonnen

2014-01-01

Aim. A case-control study was conducted to determine the prevalence of G. lamblia, Cryptosporidium, spp and E. histolytica/dispar in diarrheal children at Yirgalem Hospital from February 2011 to August. Subjects and Methods. A total of 230 children participated in the study of which 115 (50%) were cases and 115 (50%) were controls. A single stool sample was collected and examined by direct saline wet mount, formol-ether concentration, and modified Ziehl-Neelsen. Results. Eighty-four (36.52%) were positive for at least one intestinal parasites (57 (49.56%) from diarrheal children and 27 (23.47%) out of nondiarrheal children). The prevalence of G. lamblia, Cryptosporidium spp, and E. histolytica/dispar was 15.65%, 9.56%, and 4.35% in children with diarrhea and 1.74%, 5.21%, and 1.74% in those without it, respectively. Cryptosporidium spp and E. histolytica/dispar revealed higher infection in males (10.81% and 5.4%, resp.) than in females (7.32% and 2.43%, resp.). G. lamblia infection was higher in females (29.27%) than in males (8.11%). Cryptosporidium spp infection was higher in the age groups of ≤4 years old (53.84%). Significant difference was seen between 10 and 13 (7.69%) years old. Higher prevalence of E. histolytica/dispar was found in 5-9 years (85.71%) than ≤4 years old (14.28%). Conclusion. Cryptosporidium spp, E. histolytica/dispar, and G. lamblia were higher in children with diarrhea than in those without it.

Importance of mycological confirmation of clinically suspected cases of tinea corporis, tinea pedis and tinea cruris.

PubMed

Omar, Abeer Aly

2004-01-01

Tinea corporis, tinea cruris, and tinea pedis are of the most prevalent dermatophytoses. Several conditions that mimic dermatophytoses and atypical and steroid modified forms of the disease usually present difficulties in diagnosis. Hence, the present investigation aimed at studying these conditions on mycological basis. The study included 163 cases clinically diagnosed as having tinea corporis, tinea pedis or tinea cruris. Specimens were taken by skin scraping. Samples were cultured on Sabouraud's dextrose agar and examined microscopically. The results revealed that, only 90.8% of cases were mycologically proven (positive by one or both methods). Most of tinea corporis, tinea pedis and tinea cruris cases (68.9%, 79.1%& 83.9% respectively) were diagnosed by both methods (P>0.05). For cases of tinea corporis and tinea cruris, males were more than females (51.4%, 48.6% and 58.1%, 41.9% respectively) while females exceeded males (72.1%, 27.9% respectively) in cases with tinea pedis (P<0.05). Trichophyton rubrum (T. rubrum) was the most common isolate in all the studied conditions, represented 64.9% in tinea corporis, 53.4 %, for tinea pedis and 64.6% for tinea cruris. T. mentagrophytes var. interdigitale was mostly isolated from cases of tinea pedis (23.3%). The majority of T. violaceum was isolated from cases of tinea corporis (12.2%). The main isolation of E. floccosum was from cases of tinea cruris (16.1%) Microsporum canis (M. canis) was only isolated from one case (1.4%) of tinea corporis while Candida albicans (C. albicans) alone (9.3%) or with T. rubrum (7.0%) was isolated only from cases of interdigital tinea pedis. (P<0.05). The majority of cases of tinea corporis, tinea pedis and tinea cruris had chronic lesions (78.4%, 76.7% and 54.8% respectively) (P<0.05) and received prior therapy for the condition (79.7%, 76.7% and 58.1% respectively, (P>0.05). In conclusion, early accurate diagnosis (on mycological basis) is an important tool to control and reduce the incidence of dermatophytosis. Periodic epidemiological analysis of these conditions is required to ensure their efficacious control.

Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations.

PubMed

Fehringer, Gordon; Kraft, Peter; Pharoah, Paul D; Eeles, Rosalind A; Chatterjee, Nilanjan; Schumacher, Fredrick R; Schildkraut, Joellen M; Lindström, Sara; Brennan, Paul; Bickeböller, Heike; Houlston, Richard S; Landi, Maria Teresa; Caporaso, Neil; Risch, Angela; Amin Al Olama, Ali; Berndt, Sonja I; Giovannucci, Edward L; Grönberg, Henrik; Kote-Jarai, Zsofia; Ma, Jing; Muir, Kenneth; Stampfer, Meir J; Stevens, Victoria L; Wiklund, Fredrik; Willett, Walter C; Goode, Ellen L; Permuth, Jennifer B; Risch, Harvey A; Reid, Brett M; Bezieau, Stephane; Brenner, Hermann; Chan, Andrew T; Chang-Claude, Jenny; Hudson, Thomas J; Kocarnik, Jonathan K; Newcomb, Polly A; Schoen, Robert E; Slattery, Martha L; White, Emily; Adank, Muriel A; Ahsan, Habibul; Aittomäki, Kristiina; Baglietto, Laura; Blomquist, Carl; Canzian, Federico; Czene, Kamila; Dos-Santos-Silva, Isabel; Eliassen, A Heather; Figueroa, Jonine D; Flesch-Janys, Dieter; Fletcher, Olivia; Garcia-Closas, Montserrat; Gaudet, Mia M; Johnson, Nichola; Hall, Per; Hazra, Aditi; Hein, Rebecca; Hofman, Albert; Hopper, John L; Irwanto, Astrid; Johansson, Mattias; Kaaks, Rudolf; Kibriya, Muhammad G; Lichtner, Peter; Liu, Jianjun; Lund, Eiliv; Makalic, Enes; Meindl, Alfons; Müller-Myhsok, Bertram; Muranen, Taru A; Nevanlinna, Heli; Peeters, Petra H; Peto, Julian; Prentice, Ross L; Rahman, Nazneen; Sanchez, Maria Jose; Schmidt, Daniel F; Schmutzler, Rita K; Southey, Melissa C; Tamimi, Rulla; Travis, Ruth C; Turnbull, Clare; Uitterlinden, Andre G; Wang, Zhaoming; Whittemore, Alice S; Yang, Xiaohong R; Zheng, Wei; Buchanan, Daniel D; Casey, Graham; Conti, David V; Edlund, Christopher K; Gallinger, Steven; Haile, Robert W; Jenkins, Mark; Le Marchand, Loïc; Li, Li; Lindor, Noralene M; Schmit, Stephanie L; Thibodeau, Stephen N; Woods, Michael O; Rafnar, Thorunn; Gudmundsson, Julius; Stacey, Simon N; Stefansson, Kari; Sulem, Patrick; Chen, Y Ann; Tyrer, Jonathan P; Christiani, David C; Wei, Yongyue; Shen, Hongbing; Hu, Zhibin; Shu, Xiao-Ou; Shiraishi, Kouya; Takahashi, Atsushi; Bossé, Yohan; Obeidat, Ma'en; Nickle, David; Timens, Wim; Freedman, Matthew L; Li, Qiyuan; Seminara, Daniela; Chanock, Stephen J; Gong, Jian; Peters, Ulrike; Gruber, Stephen B; Amos, Christopher I; Sellers, Thomas A; Easton, Douglas F; Hunter, David J; Haiman, Christopher A; Henderson, Brian E; Hung, Rayjean J

2016-09-01

Identifying genetic variants with pleiotropic associations can uncover common pathways influencing multiple cancers. We took a two-stage approach to conduct genome-wide association studies for lung, ovary, breast, prostate, and colorectal cancer from the GAME-ON/GECCO Network (61,851 cases, 61,820 controls) to identify pleiotropic loci. Findings were replicated in independent association studies (55,789 cases, 330,490 controls). We identified a novel pleiotropic association at 1q22 involving breast and lung squamous cell carcinoma, with eQTL analysis showing an association with ADAM15/THBS3 gene expression in lung. We also identified a known breast cancer locus CASP8/ALS2CR12 associated with prostate cancer, a known cancer locus at CDKN2B-AS1 with different variants associated with lung adenocarcinoma and prostate cancer, and confirmed the associations of a breast BRCA2 locus with lung and serous ovarian cancer. This is the largest study to date examining pleiotropy across multiple cancer-associated loci, identifying common mechanisms of cancer development and progression. Cancer Res; 76(17); 5103-14. ©2016 AACR. ©2016 American Association for Cancer Research.

Meta-prediction of MTHFR gene polymorphism-mutations, air pollution, and risks of leukemia among world populations.

PubMed

Lien, Shin-Yu A; Young, Lufei; Gau, Bih-Shya; K Shiao, S Pamela

2017-01-17

The major objective of this study was to examine the association between Methylenetetrahydrofolate Reductase (MTHFR) polymorphisms and the risk of various types of leukemias across the lifespans of children and adults by using the meta-predictive techniques. The secondary objective was to examine the interactions among epigenetic risk factors (including air pollution), MTHFR polymorphisms, and the risks of developing leukemia. We completed a comprehensive search of 6 databases to find 54 studies (10,033 leukemia cases and 15,835 controls) for MTHFR 677, and 43 studies (8,868 cases and 14,301 controls) for MTHFR 1298, published from 1999 to 2014. The results revealed that, in European populations; childhood populations; children from Europe, East Asia, and America; and children with acute lymphocytic leukemia (ALL), MTHFR 677 polymorphisms (both TT and CT types together and individually) are protective, while CC wildtype was leukemogenic. In addition, MTHFR 1298 polymorphisms were protective against ALL and acute myeloid leukemia in European children, and in chronic myeloid leukemia in all adults worldwide and American adults. Air pollution played a role in the increased polymorphisms of MTHFR 677 genotypes in childhood leukemia.

Meta-prediction of MTHFR gene polymorphism-mutations, air pollution, and risks of leukemia among world populations

PubMed Central

Lien, Shin-Yu A.; Young, Lufei; Gau, Bih-Shya; Shiao, S. Pamela K.

2017-01-01

The major objective of this study was to examine the association between Methylenetetrahydrofolate Reductase (MTHFR) polymorphisms and the risk of various types of leukemias across the lifespans of children and adults by using the meta-predictive techniques. The secondary objective was to examine the interactions among epigenetic risk factors (including air pollution), MTHFR polymorphisms, and the risks of developing leukemia. We completed a comprehensive search of 6 databases to find 54 studies (10,033 leukemia cases and 15,835 controls) for MTHFR 677, and 43 studies (8,868 cases and 14,301 controls) for MTHFR 1298, published from 1999 to 2014. The results revealed that, in European populations; childhood populations; children from Europe, East Asia, and America; and children with acute lymphocytic leukemia (ALL), MTHFR 677 polymorphisms (both TT and CT types together and individually) are protective, while CC wildtype was leukemogenic. In addition, MTHFR 1298 polymorphisms were protective against ALL and acute myeloid leukemia in European children, and in chronic myeloid leukemia in all adults worldwide and American adults. Air pollution played a role in the increased polymorphisms of MTHFR 677 genotypes in childhood leukemia. PMID:27966457