Predictors of early stable symptomatic remission after an exacerbation of schizophrenia: the significance of symptoms, neuropsychological performance and cognitive biases.

PubMed

Andreou, Christina; Roesch-Ely, Daniela; Veckenstedt, Ruth; Bohn, Francesca; Aghotor, Julia; Köther, Ulf; Pfueller, Ute; Moritz, Steffen

2013-12-30

Neuropsychological deficits and severity of initial psychopathology have been repeatedly associated with poor symptomatic outcomes in schizophrenia. The role of higher-order cognitive biases on symptomatic outcomes of the disorder has not yet been investigated. The present study aimed to assess the contribution of cognitive biases, psychopathology and neuropsychological deficits on the probability of achieving early symptomatic remission after a psychotic episode in patients with schizophrenia. Participants were 79 patients with a DSM-IV diagnosis of schizophrenia or schizoaffective disorder undergoing an acute psychotic episode, and 25 healthy controls. According to psychopathology assessments, patients were split into those who had achieved remission after an average follow-up interval of 7 months, and those who had not (NR). Patients who achieved remission exhibited higher premorbid IQ and better performance on the TMT-B, as well as lower baseline positive, disorganized and distress symptoms than NR patients. TMT-B performance and positive symptoms at baseline were the best predictors of remission. Cognitive biases and negative symptoms were not associated with later remission. The findings highlight the significance of initial symptom severity for at least short-term symptomatic outcomes and, thus, the importance of adequate symptomatic treatment and prevention of psychotic outbreaks in patients. © 2013 Elsevier Ireland Ltd. All rights reserved.

Velocardiofacial Syndrome and Early Intervention Providers: Recommendations for Intervention

ERIC Educational Resources Information Center

Boyer, Valerie E.; Fullman, Leah I.; Bruns, Deborah A.

2012-01-01

Velocardiofacial syndrome (VCFS), the most common microdeletion syndrome, is increasingly diagnosed in young children because of advances in diagnostic testing. The result is an increase in the number of young children with VCFS referred for early intervention (EI) services. We describe early development of children with VCFS and strategies to…

Symptomatic gastroesophageal reflux disease after lung transplantation.

PubMed

Molina, Ezequiel J; Short, Scott; Monteiro, Glen; Gaughan, John P; Macha, Mahender

2009-12-01

Gastroesophageal reflux disease (GERD) is associated with allograft dysfunction after lung transplantation (LTX). We attempted to identify outcomes in LTX recipients with clinical evidence of GERD. Retrospective review of 162 LTX recipients at our institution between January 1994 and June 2006 was performed. GERD was confirmed in symptomatic patients by esophagogastroduodenoscopy (EGD) and/or esophagography. Occurrence of biopsy-proven obliterative bronchiolitis (OB) and bronchiolitis obliterans syndrome (BOS) were analyzed. Kaplan-Meier analysis of survival and Cox proportional hazard analysis of risk factors were performed. GERD was diagnosed in 21 (13%) of patients, usually following LTX (71%). There was no difference in mean survival (1603 +/- 300 vs. 1422 +/- 131 days; log rank P > 0.05), or development of OB (5% vs. 6%, respectively; P > 0.05) in patients with GERD compared with patients without GERD. However, there was correlation between GERD and BOS (P = 0.01). Symptomatic GERD is increased following LTX. Patients with symptomatic GERD demonstrated an increased incidence of BOS, but survival was not affected in this study. More sensitive and specific diagnostic tools should be implemented in all LTX recipients to investigate the impact of symptomatic and silent GERD and thus improve outcomes after LTX.

Early diagnosis of Gorlin-Goltz syndrome: case report.

PubMed

Casaroto, Ana R; Loures, Daniela C N Rocha; Moreschi, Eduardo; Veltrini, Vanessa C; Trento, Cleverson L; Gottardo, Vilmar D; Lara, Vanessa S

2011-01-25

The Gorlin-Goltz syndrome, also known as nevoid basal cell carcinoma syndrome (NBCCS), is an infrequent multisystemic disease inherited in a dominant autosomal way, which shows a high level of penetrance and variable expressiveness. It is characterized by keratocystic odontogenic tumors (KCOT) in the jaw, multiple basal cell nevi carcinomas and skeletal abnormities. This syndrome may be diagnosed early by a dentist by routine radiographic exams in the first decade of life, since the KCOTs are usually one of the first manifestations of the syndrome. This article paper reports the case of a patient, a 10-year-old boy with NBCCS, emphasizing its clinical and radiographic manifestations. This study highlights the importance of health professionals in the early diagnosis of NBCCS and in a preventive multidisciplinary approach to provide a better prognosis for the patient.

Bertolotti's syndrome: a case report.

PubMed

Mitra, Raj; Carlisle, Mark

2009-01-01

A case report and literature review is presented. To review relevant data for the management of Bertolotti's syndrome and to determine whether the transverse process-ilium articulation may be a pain generator. Bertolotti's syndrome is associated with axial low back pain secondary to arthritic changes; the pain generator in the disorder is unclear. We present a case report of symptomatic Bertolotti's syndrome managed with intra-articular steroid injections. A patient with Bertolotti's syndrome had significant relief of axial pain after steroid injection of the ilium-transverse process articulation. Steroid therapy may be a non-surgical alternative for the treatment of symptomatic Bertolotti's syndrome.

Current therapy for Lambert-Eaton myasthenic syndrome: development of 3,4-diaminopyridine phosphate salt as first-line symptomatic treatment.

PubMed

Quartel, A; Turbeville, S; Lounsbury, D

2010-06-01

Lambert-Eaton myasthenic syndrome (LEMS) is a rare pre-synaptic auto-immune disorder of neuromuscular transmission that is characterised by proximal muscle weakness, depressed tendon reflexes and autonomic dysfunction. This review summarises the clinical symptoms, aetiology, diagnosis and treatment options for LEMS. Focus is placed on symptomatic treatment with the potassium channel blocker 3,4-diaminopyridine (3,4-DAP). English-language publications were searched in MEDLINE and EMBASE to retrieve relevant literature on LEMS. The data submitted to obtain regulatory approval of 3,4-DAP phosphate by the European Medicines Agency (EMA) were also used. LEMS is a rare disease with few treatment options which are generally categorised as anti-tumour, immunomodulating or immunosuppressing, and symptomatic treatments. Anti-tumour treatment is recommended for patients with the paraneoplastic form of LEMS. While several immunomodulating or immunosuppressing treatments have been identified, these treatments should be initiated when symptomatic treatments are inadequate. As expected, due to the rarity of the disease, few reports of randomised controlled trials (RCTs) exist. Seven RCTs have been conducted to evaluate treatment of patients with LEMS. One RCT evaluated immunomodulating treatment with intravenous immunoglobulin (ivIg), while six evaluated symptomatic treatment with the potassium channel blocker 3,4-DAP. Improvements in LEMS symptoms after ivIg treatment were observed, leading to the recommendation for treatment in patients when symptomatic treatment does not provide satisfactory improvement. Potassium channel blockers evaluated for the treatment of LEMS include guanidine, 4-aminopyridine (4-AP) and 3,4-DAP. However, only 3,4-DAP has been evaluated in RCTs. Results of these RCTs demonstrated that treatment with 3,4-DAP is efficacious in treatment of LEMS and has an acceptable tolerability profile. Hence, 3,4-DAP has been recommended as first-line symptomatic

Predictors and outcome of pain-related avoidance of activities in persons with early symptomatic knee osteoarthritis: a five-year followup study.

PubMed

Holla, Jasmijn F M; van der Leeden, Marike; Knol, Dirk L; Roorda, Leo D; Hilberdink, Wim K H A; Lems, Willem F; Steultjens, Martijn P M; Dekker, Joost

2015-01-01

It has been hypothesized that pain and low vitality lead to an increase in avoidance of activities in persons with early symptomatic knee osteoarthritis (OA), and that avoidance of activities leads to an increase in activity limitations. The present study aimed to evaluate these hypotheses. Baseline, 2-year, and 5-year followup data of 828 participants from the Cohort Hip and Cohort Knee Study with early symptomatic knee OA were used. Autoregressive generalized estimating equations and linear regression models were used to analyze the longitudinal and cross-sectional associations between self-reported knee pain, vitality, pain-related avoidance of activities, and activity limitations. The models were adjusted for the covariates age, sex, education level, body mass index, comorbidity, radiographic severity, and hip pain. In longitudinal analyses, knee pain and vitality predicted a subsequent increase in avoidance of activities. Pain-related avoidance of activities predicted a subsequent increase in activity limitations; however, this relationship lost statistical significance (P = 0.089) after adjustment for covariates. Cross-sectional analyses showed strong relationships between knee pain, low vitality, pain-related avoidance of activities, and activity limitations at all time points. In persons with early symptomatic knee OA, knee pain and low vitality lead to a subsequent increase in avoidance of activities. Pain-related avoidance of activities is related to activity limitations at inception of symptoms, but also years later. Therefore, it can be recommended to monitor and target avoidance of activities at various stages of the disease. Copyright © 2015 by the American College of Rheumatology.

Accessing Autonomic Function Can Early Screen Metabolic Syndrome

PubMed Central

Dai, Meng; Li, Mian; Yang, Zhi; Xu, Min; Xu, Yu; Lu, Jieli; Chen, Yuhong; Liu, Jianmin; Ning, Guang; Bi, Yufang

2012-01-01

Background Clinical diagnosis of the metabolic syndrome is time-consuming and invasive. Convenient instruments that do not require laboratory or physical investigation would be useful in early screening individuals at high risk of metabolic syndrome. Examination of the autonomic function can be taken as a directly reference and screening indicator for predicting metabolic syndrome. Methodology and Principal Findings The EZSCAN test, as an efficient and noninvasive technology, can access autonomic function through measuring electrochemical skin conductance. In this study, we used EZSCAN value to evaluate autonomic function and to detect metabolic syndrome in 5,887 participants aged 40 years or older. The EZSCAN test diagnostic accuracy was analyzed by receiver operating characteristic curves. Among the 5,815 participants in the final analysis, 2,541 were diagnosed as metabolic syndrome and the overall prevalence was 43.7%. Prevalence of the metabolic syndrome increased with the elevated EZSCAN risk level (p for trend <0.0001). Moreover, EZSCAN value was associated with an increase in the number of metabolic syndrome components (p for trend <0.0001). Compared with the no risk group (EZSCAN value 0–24), participants at the high risk group (EZSCAN value: 50–100) had a 2.35 fold increased risk of prevalent metabolic syndrome after the multiple adjustments. The area under the curve of the EZSCAN test was 0.62 (95% confidence interval [CI], 0.61–0.64) for predicting metabolic syndrome. The optimal operating point for the EZSCAN value to detect a high risk of prevalent metabolic syndrome was 30 in this study, while the sensitivity and specificity were 71.2% and 46.7%, respectively. Conclusions and Significance In conclusion, although less sensitive and accurate when compared with the clinical definition of metabolic syndrome, we found that the EZSCAN test is a good and simple screening technique for early predicting metabolic syndrome. PMID:22916265

Sub-Symptomatic Aerobic Exercise for Patients with Post-Concussion Syndrome: A Critically Appraised Topic.

PubMed

Ritter, Katrina G; Hussey, Matthew J; Valovich McLeod, Tamara C

2017-09-27

Clinical Scenario: Patients who experience prolonged concussion symptoms can be diagnosed with Post-Concussion Syndrome (PCS) when those symptoms persist past 4 weeks. Aerobic exercise protocols have been shown to be effective in improving physical and mental aspects of health. Emerging research suggests that aerobic exercise maybe useful as a treatment for PCS, where exercise allows patients to feel less isolated and more active during the recovery process. Is aerobic exercise more beneficial in reducing symptoms than current standard care in patients with prolonged symptoms or PCS lasting longer than 4 weeks? Summary of Key Findings: After a thorough literature search, 4 studies were selected relevant to the clinical question. Of the 4 studies, 1 was a randomized control trial and 3 were case series. All 4 studies investigate aerobic exercise protocol as treatment for PCS. 1-4 Three articles demonstrated a greater rate of symptom improvement from baseline assessment to follow-up after a controlled sub-symptomatic aerobic exercise program. 2-4 One study showed a decrease in symptoms in the aerobic exercise group compared to the full body stretching group. 1 Clinical Bottom Line: There is moderate evidence to support sub-symptomatic aerobic exercise as a treatment of PCS, therefore it should be considered as a clinical option for reducing PCS and prolonged concussion symptoms. A previously validated protocol, such as the Buffalo Concussion Treadmill Test, Balke Protocol, or Rating of Perceived Exertion (RPE) as mentioned in this critically appraised topic should be used to measure baseline values and treatment progression. Strength of Recommendation: Level C evidence exists that aerobic exercise protocol is more effective than the current standard of care in treating PCS.

[Cushing's syndrome during pregnancy].

PubMed

Lubin, Vanessa; Gautier, Jean-François; Antoine, Jean-Marie; Beressi, Jean-Paul; Vexiau, Patrick

2002-11-09

The rare association of Cushing's syndrome and pregnancy is explained by the amenorrhea and sterility inherent to the syndrome. In the literature, 125 cases have been reported: 30 cases of early diagnosis and 95 others diagnosed in the second half of pregnancy. When hypercorticism exists before pregnancy it is hardly secretory. Its diagnosis, at an early stage, is not hindered by the hormone modifications of pregnancy. Its aetiological treatment raises the problem of the compatibility in pursuing the latter. The positive and aetiological diagnoses of Cushing's syndrome are difficult and its prevalence may therefore be underestimated. The evocative clinical signs are unspecific: excessive weight gain, hypertension of pregnancy and gestational diabetes. The 24-hour free hypercortisoluria and the absence of dexamethasone inhibition are of little diagnostic value after the 14th week of amenorrhea. The positive diagnosis therefore relies essentially on the abolition of the circadian rhythm of cortisol. The biological hyperandrogenia commonly observed is not discriminating. Adrenal aetiologies are frequent. Imaging must be performed to eliminate an adrenocortical tumor. The maternal prognosis depends on the hypertension, preeclampsia, diabetes and the complications of Cushing's syndrome. It depends on the activity of the hypercorticism and its early aetiological treatment, which must not be delayed after pregnancy. The foetal prognosis depends on the maternal prognosis. It is represented by preterm delivery, hypotrophy and death of the foetus in utero. The therapeutic management must be symptomatic and aetiologic, maternal and obstetrical.

Symptomatic Avascular Necrosis: An Understudied Risk Factor for Acute Care Utilization by Patients with SCD

PubMed Central

Yu, Tiffany; Campbell, Timothy; Ciuffetelli, Isabella; Haywood, Carlton; Carroll, C. Patrick; Resar, Linda M.S.; Strouse, John J.; Lanzkron, Sophie

2016-01-01

Objectives Sickle cell disease (SCD) is associated with high healthcare utilization rates and poor outcomes in a subset of patients, although the underlying factors that predict this phenotype are poorly understood. Prior studies suggest that comorbid avascular necrosis (AVN) contributes to high healthcare utilization. We sought to clarify whether AVN independently predicts acute care utilization in adults with SCD and to identify characteristics of those with AVN that predict higher utilization. Methods We reviewed the medical records of 87 patients with SCD with symptomatic AVN and compared acute care utilization and clinical characteristics with 87 sex- and age-matched patients with SCD without symptomatic AVN. Patients with ≥2 years of follow-up were included. Outcomes were compared using bivariate analysis and multivariate regression. Results Our study included 1381 follow-up years, with a median of 7 years per patient. The AVN cohort had greater median rates of urgent care visits (3.2/year vs 1.3/year; P = 0.0155), admissions (1.3/year vs 0.4/year; P = 0.0002), and admission days (5.1 days/year vs 1.8 days/year; P = 0.0007). History of high utilization (odds ratio [OR] 4.28; P = 0.001), acute chest syndrome (OR 3.12; P = 0.005), pneumonia (OR 3.20; P = 0.023), hydroxyurea therapy (OR 2.23; P = 0.0136), and long-term transfusion (OR 2.33; P = 0.014) were associated with AVN. In a median regression model, AVN, acute chest syndrome, and pneumonia were independently associated with greater urgent care visits and admissions. Conclusions Symptomatic AVN was found to be an independent risk factor for acute care utilization in patients with SCD. Because this is a potentially modifiable factor, further studies are urgently needed to determine whether AVN prevention/early treatment interventions will alter utilization and improve outcomes for patients with SCD. PMID:27598353

Symptomatic Avascular Necrosis: An Understudied Risk Factor for Acute Care Utilization by Patients with SCD.

PubMed

Yu, Tiffany; Campbell, Timothy; Ciuffetelli, Isabella; Haywood, Carlton; Carroll, Christopher Patrick; Resar, Linda; Strouse, John J; Lanzkron, Sophie

2016-09-01

Sickle cell disease (SCD) is associated with high healthcare utilization rates and poor outcomes in a subset of patients, although the underlying factors that predict this phenotype are poorly understood. Prior studies suggest that comorbid avascular necrosis (AVN) contributes to high healthcare utilization. We sought to clarify whether AVN independently predicts acute care utilization in adults with SCD and to identify characteristics of those with AVN that predict higher utilization. We reviewed the medical records of 87 patients with SCD with symptomatic AVN and compared acute care utilization and clinical characteristics with 87 sex- and age-matched patients with SCD without symptomatic AVN. Patients with ≥2 years of follow-up were included. Outcomes were compared using bivariate analysis and multivariate regression. Our study included 1381 follow-up years, with a median of 7 years per patient. The AVN cohort had greater median rates of urgent care visits (3.2/year vs 1.3/year; P = 0.0155), admissions (1.3/year vs 0.4/year; P = 0.0002), and admission days (5.1 days/year vs 1.8 days/year; P = 0.0007). History of high utilization (odds ratio [OR] 4.28; P = 0.001), acute chest syndrome (OR 3.12; P = 0.005), pneumonia (OR 3.20; P = 0.023), hydroxyurea therapy (OR 2.23; P = 0.0136), and long-term transfusion (OR 2.33; P = 0.014) were associated with AVN. In a median regression model, AVN, acute chest syndrome, and pneumonia were independently associated with greater urgent care visits and admissions. Symptomatic AVN was found to be an independent risk factor for acute care utilization in patients with SCD. Because this is a potentially modifiable factor, further studies are urgently needed to determine whether AVN prevention/early treatment interventions will alter utilization and improve outcomes for patients with SCD.

Acute kidney injury in symptomatic primary Epstein-Barr virus infectious mononucleosis: Systematic review.

PubMed

Moretti, Milena; Lava, Sebastiano A G; Zgraggen, Lorenzo; Simonetti, Giacomo D; Kottanattu, Lisa; Bianchetti, Mario G; Milani, Gregorio P

2017-06-01

Textbooks and reviews do not mention the association of symptomatic primary Epstein-Barr virus infectious mononucleosis with acute kidney injury in subjects without immunodeficiency or autoimmunity. Stimulated by our experience with two cases, we performed a review of the literature. The literature documents 38 cases (26 male and 12 female individuals ranging in age from 0.3 to 51, median 18 years) of symptomatic primary Epstein-Barr virus infectious mononucleosis complicated by acute kidney injury: 27 acute interstitial nephritides, 1 jaundice-associated nephropathy, 7 myositides and 3 hemolytic uremic syndromes. Acute kidney injury requiring renal replacement therapy was observed in 18 (47%) cases. Acute kidney injury did not resolve in one patient with acute interstitial nephritis. Two patients died because of systemic complications. The remaining 35 cases fully recovered. In individuals with acute symptomatic Epstein-Barr virus infectious mononucleosis, a relevant kidney injury is rare but the outcome potentially fatal. It results from interstitial nephritis, myositis-associated acute kidney injury, hemolytic uremic syndrome or jaundice-associated nephropathy. Copyright © 2017 Elsevier B.V. All rights reserved.

Does highly symptomatic class membership in the acute phase predict highly symptomatic classification in victims 6 months after traumatic exposure?

PubMed

Hansen, Maj; Hyland, Philip; Armour, Cherie

2016-05-01

Recently studies have indicated the existence of both posttraumatic stress disorder (PTSD) and acute stress disorder (ASD) subtypes but no studies have investigated their mutual association. Although ASD may not be a precursor of PTSD per se, there are potential benefits associated with early identification of victims at risk of developing PTSD subtypes. The present study investigates ASD and PTSD subtypes using latent class analysis (LCA) following bank robbery (N=371). Moreover, we assessed if highly symptomatic ASD and selected risk factors increased the probability of highly symptomatic PTSD. The results of LCA revealed a three class solution for ASD and a two class solution for PTSD. Negative cognitions about self (OR=1.08), neuroticism (OR=1.09) and membership of the 'High symptomatic ASD' class (OR=20.41) significantly increased the probability of 'symptomatic PTSD' class membership. Future studies are needed to investigate the existence of ASD and PTSD subtypes and their mutual relationship. Copyright © 2016 Elsevier Ltd. All rights reserved.

A Review of Symptomatic Lumbosacral Transitional Vertebrae: Bertolotti's Syndrome.

PubMed

Jancuska, Jeffrey M; Spivak, Jeffrey M; Bendo, John A

2015-01-01

Lumbosacral transitional vertebrae (LSTV) are increasingly recognized as a common anatomical variant associated with altered patterns of degenerative spine changes. This review will focus on the clinical significance of LSTV, disruptions in normal spine biomechanics, imaging techniques, diagnosis, and treatment. A Pubmed search using the specific key words "LSTV," "lumbosacral transitional vertebrae," and "Bertolotti's Syndrome" was performed. The resulting group of manuscripts from our search was evaluated. LSTV are associated with alterations in biomechanics and anatomy of spinal and paraspinal structures, which have important implications on surgical approaches and techniques. LSTV are often inaccurately detected and classified on standard AP radiographs and MRI. The use of whole-spine images as well as geometric relationships between the sacrum and lumbar vertebra increase accuracy. Uncertainty regarding the cause, clinical significance, and treatment of LSTV persists. Some authors suggest an association between LSTV types II and IV and low back pain. Pseudoarticulation between the transverse process and the sacrum creates a "false joint" susceptible to arthritic changes and osteophyte formation potentially leading to nerve root entrapment. The diagnosis of symptomatic LSTV is considered with appropriate patient history, imaging studies, and diagnostic injections. A positive radionuclide study along with a positive effect from a local injection helps distinguish the transitional vertebra as a significant pain source. Surgical resection is reserved for a subgroup of LSTV patients who fail conservative treatment and whose pain is definitively attributed to the anomalous pseudoarticulation. Due to the common finding of low back pain and the wide prevalence of LSTV in the general population, it is essential to differentiate between symptoms originating from an anomalous psuedoarticulation from other potential sources of low back pain. Further studies with larger

Early improvement in left atrial remodeling and function after mitral valve repair or replacement in organic symptomatic mitral regurgitation assessed by three-dimensional echocardiography.

PubMed

Le Bihan, David C S; Della Togna, Dorival Julio; Barretto, Rodrigo B M; Assef, Jorge Eduardo; Machado, Lúcia Romero; Ramos, Auristela Isabel de Oliveira; Abdulmassih Neto, Camilo; Moisés, Valdir Ambrosio; Sousa, Amanda G M R; Campos, Orlando

2015-07-01

Left atrial (LA) dilation is associated with worse prognosis in various clinical situations including chronic mitral regurgitation (MR). Real time three-dimensional echocardiography (3DE) has allowed a better assessment of LA volumes and function. Little is known about LA size and function in early postoperative period in symptomatic patients with chronic organic MR. We aimed to investigate these aspects. By means of 3DE, 43 patients with symptomatic chronic organic MR were prospectively studied before and 30 days after surgery (repair or bioprosthetic valve replacement). Twenty subjects were studied as controls. Maximum (Vol-max), minimum, and preatrial contraction LA volumes were measured and total, passive, and active LA emptying fractions were calculated. Before surgery patients had higher LA volumes (P < 0.001) but smaller LA emptying fractions than controls (P < 0.01). After surgery there was a reduction in all 3 LA volumes and an increase in active atrial emptying fraction (AAEF). Multivariate analysis showed that independent predictors of early postoperative Vol-max reduction were preoperative diastolic blood pressure (coefficient = -0.004; P = 0.02), lateral mitral annular early diastolic velocity (e') (coefficient = 0.023; P = 0.008), and the mean transmitral diastolic gradient increment (coefficient = -0.035; P < 0.001). Furthermore, e' was also independently associated with AAEF increase (odds ratio = 1.66, P = 0.027). Early LA reverse remodeling and functional improvement occur after successful surgery of symptomatic organic MR regardless of surgical technique. Diastolic blood pressure and transmitral mean gradient augmentation are variables negatively related to Vol-max reduction. Besides, e' is positively correlated with both Vol-max reduction and AAEF increase. © 2014, Wiley Periodicals, Inc.

Feasibility and Efficacy of Brief Computerized Training to Improve Emotion Recognition in Premanifest and Early-Symptomatic Huntington's Disease.

PubMed

Kempnich, Clare L; Wong, Dana; Georgiou-Karistianis, Nellie; Stout, Julie C

2017-04-01

Deficits in the recognition of negative emotions emerge before clinical diagnosis in Huntington's disease (HD). To address emotion recognition deficits, which have been shown in schizophrenia to be improved by computerized training, we conducted a study of the feasibility and efficacy of computerized training of emotion recognition in HD. We randomly assigned 22 individuals with premanifest or early symptomatic HD to the training or control group. The training group used a self-guided online training program, MicroExpression Training Tool (METT), twice weekly for 4 weeks. All participants completed measures of emotion recognition at baseline and post-training time-points. Participants in the training group also completed training adherence measures. Participants in the training group completed seven of the eight sessions on average. Results showed a significant group by time interaction, indicating that METT training was associated with improved accuracy in emotion recognition. Although sample size was small, our study demonstrates that emotion recognition remediation using the METT is feasible in terms of training adherence. The evidence also suggests METT may be effective in premanifest or early-symptomatic HD, opening up a potential new avenue for intervention. Further study with a larger sample size is needed to replicate these findings, and to characterize the durability and generalizability of these improvements, and their impact on functional outcomes in HD. (JINS, 2017, 23, 314-321).

Early onset marfan syndrome: Atypical clinical presentation of two cases

PubMed Central

Ozyurt, A; Baykan, A; Argun, M; Pamukcu, O; Halis, H; Korkut, S; Yuksel, Z; Gunes, T; Narin, N

2015-01-01

Early onset Marfan Syndrome (eoMFS) is a rare, severe form of Marfan Syndrome (MFS). The disease has a poor prognosis and most patients present with resistance to heart failure treatment during the newborn period. This report presents two cases of eoMFS with similar clinical features diagnosed in the newborn period and who died at an early age due to the complications related to the involvement of the cardiovascular system. PMID:26929908

The efficacy of Euphorbia prostrata in early grades of symptomatic hemorrhoids--a pilot study.

PubMed

Gupta, P J

2011-02-01

The medical treatment for hemorrhoids has undergone significant changes on introduction of new pharmaceutical agents in the last decade. Euphorbia Prostrata is a new molecule used for grade I and II hemorrhoids. Beneficial effects of the Euphorbia prostrata in hemorrhoids have multiple mechanisms that are due to its active constituents flavonoids, tannins and phenolic acid. This pilot study was performed to assess the effectiveness of this molecule in early grades of symptomatic hemorrhoids. In the present retrospective study, the effect of Euphorbia prostrata on patients with hemorrhoids was observed over a follow up period of 12 weeks. In all, 120 patients were studied. This included 63 males and 57 females. Patients with grade 1 and 2 were prescribed with one tablet of Euphorbia prostrata (Tab Sitcom, Panacea Biotec, India) to be consumed on empty stomach every morning for two weeks. Follow-up was carried out at 2, 4 and 12 weeks after commencement of treatment. The primary end point of the study was control of bleeding and secondary end points were regression of hemorrhoid mass, pruritus and discomfort in the anus. Ninty-nine patients (82%) had complete cessation of bleeding at the end of two weeks. Six patients needed another 2 week's treatment to achieve complete relief, amounting to a success rate of 87%. Anal itch was relieved in 73% of patients, while anal discomfort subsided in 90% of patients. None of the patient had reported any adversity with consumption of the drug. At the follow-up after 3 months of treatment, no patient reported with symptomatic recurrence. However, 37 of the 79 patients (46%) still had residual hemorrhoids on anoscopic examination. This pilot study shows that Euphorbia prostrata can be used as an effective and well-tolerated pharmaceutical agent in the treatment of early grades of hemorrhoids. Long-term follow-up and randomized control trials by comparing with other established formulations is necessary to justify reliance on this

Burning Mouth Syndrome and "Burning Mouth Syndrome".

PubMed

Rifkind, Jacob Bernard

2016-03-01

Burning mouth syndrome is distressing to both the patient and practitioner unable to determine the cause of the patient's symptoms. Burning mouth syndrome is a diagnosis of exclusion, which is used only after nutritional deficiencies, mucosal disease, fungal infections, hormonal disturbances and contact stomatitis have been ruled out. This article will explore the many causes and treatment of patients who present with a chief complaint of "my mouth burns," including symptomatic treatment for those with burning mouth syndrome.

Early mortality syndrome in Great Lakes salmonines

USGS Publications Warehouse

Honeyfield, Dale C.; Brown, Scott B.; Fitzsimons, John D.; Tillitt, Donald E.

2005-01-01

Early mortality syndrome (EMS) is the termused to describe an embryonic mortality affectingthe offspring of salmonines (coho salmonOnco-rhynchus kisutch, Chinook salmonOncorhynchustshawytscha, steelhead [anadromous rainbow troutOncorhynchus mykiss], brown troutSalmo trutta,and lake trout,Salvelinus namaycush) in LakesMichigan and Ontario and, to a lesser extent, LakesHuron and Erie (Marcquenski and Brown 1997).Clinical signs of EMS include loss of equilibrium,a spiral swimming pattern, lethargy, hyperexcit-ability, hemorrhage, and death between hatch andfirst feeding. Early mortality syndrome was ob-served as far back as the 1960s in Great Lakessalmonines (Marcquenski and Brown 1997; Fitz-simons et al. 1999) and is of concern because mor-tality has been high in recent years (Wolgamoodet al. 2005; all 2005 citations are this issue). Stocksof Atlantic salmonSalmo salarfrom the FingerLakes and the Baltic Sea also exhibit a similarearly life stage mortality, called Cayuga syndrome(Fisher et al. 1995) and M74 (Bo ̈ rjeson and Norr-gren 1997), respectively. Low egg thiamine levelsand enhanced survival following thiamine treat-ments are common characteristics of EMS, CayugaSyndrome, and M74 (Fitzsimons et al. 1999). Be-cause the deficiency does not appear to be the re-sult of inadequate dietary thiamine (Fitzsimons and Brown 1998), investigators have hypothesizedthat the presence of some thiaminolytic factors inthe diet may reduce the bioavailability of thiamine,either by destroying it or converting it to an in-active analog or thiamine antagonist (Fisher et al.1996; Fitzsimons et al. 1999).

Brief report: Emotional distress and recent stressful life events in long QT syndrome mutation carriers.

PubMed

Määttänen, Ilmari; Jokela, Markus; Pulkki-Råback, Laura; Keltikangas-Järvinen, Liisa; Swan, Heikki; Toivonen, Lauri; Merjonen, Päivi; Hintsa, Taina

2015-11-01

To study emotional distress in symptomatic and asymptomatic long QT syndrome mutation carriers who had experienced a recent stressful life event. The participants were 209 symptomatic and 279 asymptomatic long QT syndrome mutation carriers. Emotional distress was assessed with the Cope questionnaire and stressful life events with the Social Readjustment Rating Scale. Symptomatic long QT syndrome mutation carriers with burdening recent stressful life events reported a higher emotional distress (β = 0.35, p < 0.001), while the asymptomatic did not show such difference (β = 0.13, p = 0.393). Symptomatic long QT syndrome mutation carriers who have experienced stressful life events recently report an increased emotional distress. © The Author(s) 2013.

Study of Different Social Rewards Used in Down's Syndrome Children's Early Stimulation

ERIC Educational Resources Information Center

Sanz, Teresa; Menendez, Javier; Rosique, Teresa

2011-01-01

This article describes the results obtained with two types of social rewards used in early stimulation of Down's syndrome children. In the study we focus on the efficiency of the employment of the social rewards or reinforcements used in the early stimulation, bearing in mind that the children with Down's syndrome possess a social development…

Diagnostic delays in 537 symptomatic cases of Middle East respiratory syndrome coronavirus infection in Saudi Arabia.

PubMed

Ahmed, Anwar E

2017-09-01

Although the literature indicates that patient delays in seeking medical support for Middle East respiratory syndrome coronavirus (MERS-CoV) infections are associated with poor clinical outcomes, delays in the diagnosis itself remain poorly understood in these patients. This study aimed to determine the median time interval from symptom onset to a confirmed diagnosis and to identify the potential predictors of this interval in Saudi Arabian MERS patients. This was a retrospective study of patients with confirmed MERS who were publicly reported by the World Health Organization (WHO). Five hundred and thirty-seven symptomatic cases of MERS-CoV infection were included. The median time interval between symptom onset and confirmation of the MERS diagnosis was 4 days (interquartile range 2-7 days), ranging from 0 to 36 days. According to the negative binomial model, the unadjusted rate ratio (RR) of delays in the diagnosis was significantly higher in older patients (>65 years) (RR 1.42), non-healthcare workers (RR 1.74), patients with severe illness (RR 1.22), those with an unknown source of infection (RR 1.84), and those who had been in close contact with camels (RR 1.74). After accounting for confounders, the adjusted rate ratio (aRR) of delays in the diagnosis was independently associated with unknown source of infection (aRR 1.68) and close contact with camels (aRR 1.58). The time interval from symptom onset to diagnosis was greater in older patients, non-healthcare workers, patients with severe illness, patients with an unknown source of infection, and patients who had been in close contact with camels. The findings warrant educational interventions to raise general public awareness of the importance of early symptom notification. Copyright © 2017 The Author(s). Published by Elsevier Ltd.. All rights reserved.

Early onset intellectual disability in chromosome 22q11.2 deletion syndrome.

PubMed

Cascella, Marco; Muzio, Maria Rosaria

2015-01-01

Chromosome 22q11.2 deletion syndrome, or DiGeorge syndrome, or velocardiofacial syndrome, is one of the most common multiple anomaly syndromes in humans. This syndrome is commonly caused by a microdelection from chromosome 22 at band q11.2. Although this genetic disorder may reflect several clinical abnormalities and different degrees of organ commitment, the clinical features that have driven the greatest amount of attention are behavioral and developmental features, because individuals with 22q11.2 deletion syndrome have a 30-fold risk of developing schizophrenia. There are differing opinions about the cognitive development, and commonly a cognitive decline rather than an early onset intellectual disability has been observed. We report a case of 22q11.2 deletion syndrome with both early assessment of mild intellectual disabilities and tetralogy of Fallot as the only physic manifestation. Copyright © 2015 Sociedad Chilena de Pediatría. Publicado por Elsevier España, S.L.U. All rights reserved.

Early-Onset Vemurafenib-Induced DRESS Syndrome.

PubMed

Munch, Marion; Peuvrel, Lucie; Brocard, Anabelle; Saint Jean, Mélanie; Khammari, Amir; Dreno, Brigitte; Quereux, Gaelle

2016-01-01

Vemurafenib is a BRAF inhibitor indicated in metastatic or unresectable melanoma in patients with BRAF mutations. Vemurafenib is frequently toxic, but the toxicity is often not serious. The third case of vemurafenib-induced drug rash with eosinophilia and systemic symptoms (DRESS) syndrome is reported herein. The case is unusual in that the onset was early, with symptoms emerging as of day 8 of treatment. Treatment of DRESS syndrome is not currently based on precise recommendations, but systemic corticosteroid therapy is effective in serious cases. Severe toxidermias under vemurafenib are exceptional; immediate discontinuation of treatment upon diagnosis is imperative. Switching from vemurafenib to dabrafenib then seems to constitute an interesting therapeutic alternative, since its efficacy is the same but with fewer cutaneous adverse reactions. This case highlights the importance of awareness of the risk of DRESS syndrome associated with vemurafenib and monitoring for warning signs from treatment initiation. © 2015 S. Karger AG, Basel.

Achieving symptomatic remission in out-patients with schizophrenia--a naturalistic study with quetiapine.

PubMed

Wobrock, T; Köhler, J; Klein, P; Falkai, P

2009-08-01

Symptomatic remission was defined as a score of mild or less on each of eight key schizophrenia symptoms on the Positive and Negative Syndrome Scale (PANSS-8). To evaluate the symptomatic remission criterion in clinical practice and to determine predictors for achieving symptomatic remission, a 12-week non-interventional study (NIS) with quetiapine was conducted in Germany. For the comparison of patients with and without symptomatic remission, sociodemographic and clinical variables of 693 patients were analyzed by logistic regression for their predictive value to achieve remission. Four hundred and four patients (58.3%) achieved symptomatic remission after 12 weeks' treatment with quetiapine. Remission was significantly predicted by a low degree of PANSS-8 total score, PANSS single items blunted affect (N1), social withdrawal (N4), lack of spontaneity (N6), mannerism and posturing (G5), and low disease severity (CGI-S) at baseline. Predictors of non-remission were older age, diagnosis of schizophrenic residuum, multiple previous episodes, longer duration of current episode, presence of concomitant diseases, and alcohol abuse. This study demonstrated that the majority of schizophrenia out-patients achieved symptomatic remission after 12 weeks treatment and confirms the importance of managing negative symptoms in order to achieve disease remission.

Symptomatic atlantoaxial instability in an adolescent with trisomy 21 (Down's syndrome).

PubMed

Dedlow, E Rosellen; Siddiqi, Siraj; Fillipps, Donald J; Kelly, Maria N; Nackashi, John A; Tuli, Sanjeev Y

2013-07-01

Atlantoaxial instability (AAI) occurs in 15% of children with Trisomy 21. Health supervision guidelines were revised by the American Academy of Pediatrics in 2011 to reflect advances in care for children with special health care needs (CSHCN). Previous guidelines recommended cervical spine radiological screenings in preschool years to evaluate for atlantoaxial instability. For patients with negative screening, re-screening was recommended if they wished to compete in the Special Olympics, or became symptomatic. We present the case of an adolescent who developed a symptomatic atlantoaxial dislocation despite previous negative radiological screening at the age three (under the 2001 guidelines). This case report highlights the revisions in the 2011 guidelines for health supervision and anticipatory guidance. It underlines the need for a high index of suspicion if symptoms develop. It also addresses the need for a medical home for CSHCN, with health care providers who know the child's baseline health status.

Victims of Chinese famine in early life have increased risk of metabolic syndrome in adulthood.

PubMed

Yu, Caizheng; Wang, Jing; Wang, Fei; Han, Xu; Hu, Hua; Yuan, Jing; Miao, Xiaoping; Yao, Ping; Wei, Sheng; Wang, Youjie; Liang, Yuan; Zhang, Xiaomin; Guo, Huan; Pan, An; Zheng, Dan; Tang, Yuhan; Yang, Handong; Wu, Tangchun; He, Meian

2018-02-05

To investigate the association of exposure to the Chinese famine during early life with metabolic syndrome risk in adults. There were 7,915 participants from Dongfeng-Tongji cohort were included in the present study. Participants were classified as non-exposed group, fetal exposed group, early childhood-, mid childhood-, and late childhood-exposed groups, respectively. Metabolic syndrome was defined according to International Diabetes Foundation criteria (2005). Logistic regression model was used to explore the association between famine exposure in early life and metabolic syndrome risk in adults. The metabolic syndrome prevalence in non-, fetal-, early childhood-, mid childhood-, and late childhood- exposed groups were 25.2%, 26.9%, 30.3%, 32.7%, and 32.7%, respectively. Compared with non-exposed group, participants exposed to famine in the fetal (0.96, 95% CI: 0.77-1.20), early childhood (1.24, 95% CI: 1.01-1.52), mid childhood (1.39, 95% CI: 1.13-1.72), and late childhood (1.33, 95% CI: 1.08-1.63) had higher metabolic syndrome prevalence risk in adults after adjustment for potential confounders (P for trend < 0.0001). In gender-specific analyses, women exposed to famine in early childhood (1.26, 95% CI: 1.02-1.56), mid childhood (1.43, 95% CI: 1.14-1.78), and late childhood (1.47, 95% CI: 1.18-1.84) had higher metabolic syndrome prevalence risk than non-exposed women (P for trend < 0.0001). There was a famine-gender interaction on metabolic syndrome prevalence risk (P for interaction = 0.0001). Results in the present study indicated that exposure to famine in early life increases the risk of metabolic syndrome in adulthood, particularly in women. Copyright © 2018 Elsevier Inc. All rights reserved.

[Causes of symptomatic epilepsy in two first years of life children hospitalized in 2006-2007 years].

PubMed

Kroczka, Sławomir; Skowronek-Bała, Barbara; Zajac, Anna

2008-01-01

Epilepsy in two first years of life needs constant attention due to diagnostic and therapeutic difficulties. The aim of the study was to identify cause of symptomatic epilepsy in two first years of life children from miopolskie and podkarpackie provinces hospitalized in Pediatric Neurology Clinic of Children and Adolescents Neurology Cathedra UJ in Cracow. 102 children with epilepsy aged from 1 week to 24 months hospitalized between 1st of January 2006 and 31st of December 2007. The group included 47 girls and 55 boys. On the basis of clinical characteristics and results of additional examinations idiopathic epilepsy was diagnosed in 16/102 (13.3%) children and in remaining 86 (87.7%) symtopmatic epilepsy was established. Perinatal burdening was cause of epilepsy in 31/86 (33.72%) children. Other causes were identified in 32/54 children (59.3%) and in remaining 231 54 (40.7%) children the cause was not established. In 3/32 epilepsy occured in the course of hydrocephalus and in 3/32 children as one of CNS inflammation complications. Epilepsy as a result of vascular lesions and bleeding to CNS occured in 4 children. Multiple developmental deffects syndrome was diagnosed in 4 children and in 11 specific neurodevelopmental disorders were the cause of epilepsy. In 6 children epilepsy occured in the course of neurometabolic diseases, neurocutaneous syndromes and neoplasms. In children in two first years of life polimorphic seizures were diagnosed the most often (32/86 that is 37.2%) and tonic, tonic-clonic seizures were less often (21/86 that is 24.43%). Focal seizures occured in 20/86 (23.26%) patients, in 4/86 (4.65%) mioclonic jerks were observed and infantile spasms in 9/86 (10.46%). (1) In most hospitalized children in two first years of life symptomatic epilepsy was diagnosed. (2) Epilepsy in two first years of life was more often in boys. (3) The most often cause of symptomatic epilepsy was pathology of perinatal period. (4) Polymorphic seizures were the most

Dangerous triplet: Polycystic ovary syndrome, oral contraceptives and Kounis syndrome.

PubMed

Erol, Nurdan; Karaagac, Aysu Turkmen; Kounis, Nicholas G

2014-12-26

Polycystic ovary syndrome is characterized by ovulatory dysfunction, androgen excess and polycystic ovaries and is associated with hypertension, diabetes, metabolic syndrome and cardiovascular events. Oral contraceptives constitute first-line treatment, particularly when symptomatic hyperandrogenism is present. However, these drugs are associated with cardiovascular events and hypersensitivity reactions that pose problem in differential diagnosis and therapy. We present a 14 year-old female with polycystic ovary syndrome taking oral contraceptive and suffering from recurrent coronary ischemic attacks with increased eosinophils, and troponin levels suggesting Kounis syndrome.

Premenstrual Assessment Form Typological Categories: Classification of Self-Defined Premenstrually Symptomatic and Asymptomatic Women.

ERIC Educational Resources Information Center

Youdale, J. Valda M.; Freeman, Richard J.

1987-01-01

Investigated use of newly developed assessment instrument for premenstrual syndrome, the Premenstrual Assessment Form (PAF), as a retrospective assessment instrument, and the PAF subtypes as accurate reflectors of subjective premenstrual symptomatology. Severely premenstrually symptomatic and asymptomatic women completed the PAF. Results partially…

Alarmins S100A8/S100A9 aggravate osteophyte formation in experimental osteoarthritis and predict osteophyte progression in early human symptomatic osteoarthritis.

PubMed

Schelbergen, R F P; de Munter, W; van den Bosch, M H J; Lafeber, F P J G; Sloetjes, A; Vogl, T; Roth, J; van den Berg, W B; van der Kraan, P M; Blom, A B; van Lent, P L E M

2016-01-01

Alarmins S100A8 and S100A9 are major products of activated macrophages regulating cartilage damage and synovial activation during murine and human osteoarthritis (OA). In the current study, we investigated whether S100A8 and S100A9 are involved in osteophyte formation during experimental OA and whether S100A8/A9 predicts osteophyte progression in early human OA. OA was elicited in S100A9-/- mice in two experimental models that differ in degree of synovial activation. Osteophyte size, S100A8, S100A9 and VDIPEN neoepitope was measured histologically. Chondrogenesis was induced in murine mesenchymal stem cells in the presence of S100A8. Levels of S100A8/A9 were determined in plasma of early symptomatic OA participants of the Cohort Hip and Cohort Knee (CHECK) cohort study and osteophytes measured after 2 and 5 years. Osteophyte size was drastically reduced in S100A9-/- mice in ligaments and at medial femur and tibia on days 21 and 42 of collagenase-induced OA, in which synovial activation is high. In contrast, osteophyte size was not reduced in S100A9-/- mice during destabilised medial meniscus OA, in which synovial activation is scant. S100A8 increased expression and activation of matrix metalloproteinases during micromass chondrogenesis, thereby possibly increasing cartilage matrix remodelling allowing for larger osteophytes. Interestingly, early symptomatic OA participants of the CHECK study with osteophyte progression after 2 and 5 years had elevated S100A8/A9 plasma levels at baseline, while C-reactive protein, erythrocyte sedimentation rate and cartilage oligomeric matrix protein were not elevated at baseline. S100A8/A9 aggravate osteophyte formation in experimental OA with high synovial activation and may be used to predict osteophyte progression in early symptomatic human OA. 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/

Clinical abnormalities, early intervention program of Down syndrome children: Queen Sirikit National Institute of Child Health experience.

PubMed

Fuengfoo, Adidsuda; Sakulnoom, Kim

2014-06-01

Queen Sirikit National Institute of Child Health is a tertiary institute of children in Thailand, where early intervention programs have been provided since 1990 by multidisciplinary approach especially in Down syndrome children. This aim of the present study is to follow the impact of early intervention on the outcome of Down syndrome children. The school attendance number of Down syndrome children was compared between regular early intervention and non-regular early intervention. The present study group consists of 210 Down syndrome children who attended early intervention programs at Queen Sirikit National Institute of Child Health between June 2008 and January 2012. Data include clinical features, school attendance developmental quotient (DQ) at 3 years of age using Capute Scales Cognitive Adaptive Test/Scale (CAT/CLAMS). Developmental milestones have been recorded as to the time of appearance of gross motor, fine motor, language, personal-social development compared to those non-regular intervention patients. Of 210 Down syndrome children, 117 were boys and 93 were girls. About 87% received regular intervention, 68% attended speech training. Mean DQ at 3 years of age was 65. Of the 184 children who still did follow-up at developmental department, 124 children (59%) attended school: mainstream school children 78 (63%) and special school children 46 (37%). The mean age at entrance to school was 5.8 ± 1.4 years. The school attendance was correlated with maternal education and regular early intervention attendance. Regular early intervention starts have proven to have a positive effect on development. The school attendance number of Down syndrome children receiving regular early intervention was statistically and significantly higher than the number of Down syndrome children receiving non-regular early intervention was. School attendance correlated with maternal education and attended regularly early intervention. Regular early intervention together with maternal

Early electrophysiological findings in Fisher-Bickerstaff syndrome.

PubMed

Alberti, M A; Povedano, M; Montero, J; Casasnovas, C

2017-09-06

The term Fisher-Bickerstaff syndrome (FBS) has been proposed to describe the clinical spectrum encompassing Miller-Fisher syndrome (MFS) and Bickerstaff brainstem encephalitis. The pathophysiology of FBS and the nature of the underlying neuropathy (demyelinating or axonal) are still subject to debate. This study describes the main findings of an early neurophysiological study on 12 patients diagnosed with FBS. Retrospective evaluation of clinical characteristics and electrophysiological findings of 12 patients with FBS seen in our neurology department within 10 days of disease onset. Follow-up electrophysiological studies were also evaluated, where available. The most frequent electrophysiological finding, present in 5 (42%) patients, was reduced sensory nerve action potential (SNAP) amplitude in one or more nerves. Abnormalities were rarely found in motor neurography, with no signs of demyelination. The cranial nerve exam revealed abnormalities in 3 patients (facial neurography and/or blink reflex test). Three patients showed resolution of SNAP amplitude reduction in serial neurophysiological studies, suggesting the presence of reversible sensory nerve conduction block. Results from cranial MRI scans were normal in all patients. An electrophysiological pattern of sensory axonal neuropathy, with no associated signs of demyelination, is an early finding of FBS. Early neurophysiological evaluation and follow-up are essential for diagnosing patients with FBS. Copyright © 2017 Sociedad Española de Neurología. Publicado por Elsevier España, S.L.U. All rights reserved.

Randomized controlled trial to assess the role of raised anal pressures in the pathogenesis of symptomatic early hemorrhoids.

PubMed

Chauhan, Ashutosh; Thomas, Shaji; Bishnoi, Prem Kumar; Hadke, Niladhar S

2007-01-01

Increased maximum resting anal pressures (MRAP) have been found in patients with large prolapsed hemorrhoids undergoing hemorrhoidectomy, but their pathogenic role is controversial especially in view of the sphincteric damage that occurs with open and stapled procedures. This prospective randomized clinical trial was conducted to compare anal pressure changes in early symptomatic hemorrhoidal disease before and after successful treatment with band ligation or injection sclerotherapy, and to compare these pressures with those in normal asymptomatic controls. 32 patients with symptomatic grade II hemorrhoids were randomized to treatment with either band ligation or injection sclerotherapy. Anal manometry was done before treatment and 8 weeks after completion of treatment, and compared with 20 normal age-matched controls. The pretreatment values in both study groups were similar to each other (69.38 cm H(2)O, 95% CI 58.67-80.08, vs. 67.75 cm H(2)O, 95% CI 56.86-78.64; p = 0.790), but were significantly higher (p = 0.0001 in both groups) than in the controls (45.25 cm H(2)O, 95% CI 38.36-52.14). After successful completion of treatment, there was a highly significant drop in the MRAP in both study groups (p = 0.0001 in group A, and p = 0.001 in group B) reaching normal values. Our study shows that even in early-stage hemorrhoids, the anal pressures are significantly raised, but after successful treatment with band ligation or injection sclerotherapy, these pressures return to normal, showing that they do not play a pathogenic role but are secondary to the congested hemorrhoidal cushions. Copyright (c) 2007 S. Karger AG, Basel.

Understanding Bartter syndrome and Gitelman syndrome.

PubMed

Fremont, Oliver T; Chan, James C M

2012-02-01

We aim to review the clinical features of two renal tubular disorders characterized by sodium and potassium wasting: Bartter syndrome and Gitelman syndrome. Selected key references concerning these syndromes were analyzed, together with a PubMed search of the literature from 2000 to 2011. The clinical features common to both conditions and those which are distinct to each syndrome were presented. The new findings on the genetics of the five types of Bartter syndrome and the discrete mutations in Gitelman syndrome were reviewed, together with the diagnostic workup and treatment for each condition. Patients with Bartter syndrome types 1, 2 and 4 present at a younger age than classic Bartter syndrome type 3. They present with symptoms, often quite severe in the neonatal period. Patients with classic Bartter syndrome type 3 present later in life and may be sporadically asymptomatic or mildly symptomatic. The severe, steady-state hypokalemia in Bartter syndrome and Gitelman syndrome may abruptly become life-threatening under certain aggravating conditions. Clinicians need to be cognizant of such renal tubular disorders, and promptly treat at-risk patients.

Aortic dilatation in Turner syndrome: the role of MRI in early recognition.

PubMed

Chalard, François; Ferey, Solène; Teinturier, Cécile; Kalifa, Gabriel

2005-03-01

Aortic dilatation and dissection are rare but important complications of Turner syndrome that increase the risk of sudden death in young patients. To assess the value of aortic MRI in patients with Turner syndrome; in particular to demonstrate early aortic dilatation. A total of 21 patients with Turner syndrome underwent MRI of the thoracic aorta with measurement of vessel diameter at four levels. Measurements were normal for age in 15 cases, two patients presented with values at the upper limit of normal and four had obvious dilatation of the ascending aorta. All were symptom free. MRI allows the non-invasive demonstration of early aortic dilatation, which may lead to earlier surgery in asymptomatic individuals.

Early-Phase 11C-PiB PET in Amyloid Angiopathy-Related Symptomatic Cerebral Hemorrhage: Potential Diagnostic Value?

PubMed Central

Aigbirhio, Franklin I.; Fryer, Tim D.; Menon, David K.; Warburton, Elizabeth A.; Baron, Jean-Claude

2015-01-01

Although late-phase (>35min post-administration) 11C-PiB-PET has good sensitivity in cerebral amyloid angiopathy (CAA), its specificity is poor due to frequently high uptake in healthy aged subjects. By detecting perfusion-like abnormalities, early-phase 11C-PiB-PET might add diagnostic value. Early-frame (1–6min) 11C-PiB-PET was obtained in 11 non-demented patients with probable CAA-related symptomatic lobar intracerebral haemorrhage (70±7yrs), 9 age-matched healthy controls (HCs) and 10 HCs <55yrs. There was a significant decrease in early-phase atrophy-corrected whole-cortex SUV relative to cerebellar vermis (SUVR) in the CAA vs age-matched HC group. None of the age-matched controls fell below the lower 95% confidence limit derived from the young HCs, while 6/11 CAA patients did (sensitivity = 55%, specificity = 100%). Combining both early- and late-phase 11C-PiB data did not change the sensitivity and specificity of late-phase PiB, but combined early- and late-phase positivity entails a very high suspicion of underlying Aβ-related clinical disorder, i.e., CAA or Alzheimer disease (AD). In order to clarify this ambiguity, we then show that the occipital/posterior cingulate ratio is markedly lower in CAA than in AD (N = 7). These pilot data suggest that early-phase 11C-PiB-PET may not only add to late-phase PiB-PET with respect to the unclear situation of late-phase positivity, but also help differentiate CAA from AD. PMID:26439113

Early repolarization in Wolff-Parkinson-White syndrome: prevalence and clinical significance.

PubMed

Mizumaki, Koichi; Nishida, Kunihiro; Iwamoto, Jotaro; Nakatani, Yosuke; Yamaguchi, Yoshiaki; Sakamoto, Tamotsu; Tsuneda, Takayuki; Inoue, Hiroshi; Sakabe, Masao; Fujiki, Akira

2011-08-01

Idiopathic ventricular fibrillation (IVF) with early repolarization (ER) has recently been reported; however, ER is a common finding in healthy subjects and is also found sporadically in patients with Wolff-Parkinson-White (WPW) syndrome. The present study was designed to evaluate the prevalence and clinical significance of ER in patients with WPW syndrome. One hundred and eleven patients with WPW syndrome were studied retrospectively. Early repolarization was defined as QRS slurring or notching with J-point elevation ≥ 1 mm. The prevalence of ER was determined before and after successful catheter ablation. Before ablation, ER was found in 35 of 75 patients with a left free wall, 6 of 23 with a right free wall, and 7 of 13 with a septal accessory pathway (48 of 111, 43% as a whole). Early repolarization was always observed in leads with positive deflection of the initial part of the delta wave. After successful ablation of accessory pathways, ER was preserved in 28 (25%), disappeared in 20 (18%), and newly developed in 8 (7%) patients. In the remaining 55 (50%) patients, ER was not observed either before or after ablation. In patients with persistent ER, the amplitude and width of ER were significantly decreased 3-7 days after the ablation (1.7 ± 0.7 vs. 1.4 ± 0.6 mm, P < 0.005 and 42 ± 11 vs. 34 ± 9 ms, P < 0.001, respectively). In patients with WPW syndrome, ER could be partly related to early depolarization through the accessory pathway. However, persistent ER and new ER appearing after the ablation were frequently found. Therefore, in these patients, mechanisms other than early depolarization may be involved in the genesis of ER.

Contributing to the early detection of Rett syndrome: the potential role of auditory Gestalt perception.

PubMed

Marschik, Peter B; Einspieler, Christa; Sigafoos, Jeff

2012-01-01

To assess whether there are qualitatively deviant characteristics in the early vocalizations of children with Rett syndrome, we had 400 native Austrian-German speakers listen to audio recordings of vocalizations from typically developing girls and girls with Rett syndrome. The audio recordings were rated as (a) inconspicuous, (b) conspicuous or (c) not able to decide between (a) and (b). The results showed that participants were accurate in differentiating the vocalizations of typically developing children compared to children with Rett syndrome. However, the accuracy for rating verbal behaviors was dependent on the type of vocalization with greater accuracy for canonical babbling compared to cooing vocalizations. The results suggest a potential role for the use of rating child vocalizations for early detection of Rett syndrome. This is important because clinical criteria related to speech and language development remain important for early identification of Rett syndrome. Copyright © 2011 Elsevier Ltd. All rights reserved.

Early hearing loss and language abilities in children with Down syndrome.

PubMed

Laws, Glynis; Hall, Amanda

2014-01-01

Although many children with Down syndrome experience hearing loss, there has been little research to investigate its impact on speech and language development. Studies that have investigated the association give inconsistent results. These have often been based on samples where children with the most severe hearing impairments have been excluded and so results do not generalize to the wider population with Down syndrome. Also, measuring children's hearing at the time of a language assessment does not take into account the fluctuating nature of hearing loss in children with Down syndrome or possible effects of losses in their early years. To investigate the impact of early hearing loss on language outcomes for children with Down syndrome. Retrospective audiology clinic records and parent report for 41 children were used to categorize them as either having had hearing difficulties from 2 to 4 years or more normal hearing. Differences between the groups on measures of language expression and comprehension, receptive vocabulary, a narrative task and speech accuracy were investigated. After accounting for the contributions of chronological age and nonverbal mental age to children's scores, there were significant differences between the groups on all measures. Early hearing loss has a significant impact on the speech and language development of children with Down syndrome. Results suggest that speech and language therapy should be provided when children are found to have ongoing hearing difficulties and that joint audiology and speech and language therapy clinics could be considered for preschool children. © 2014 Royal College of Speech and Language Therapists.

Prevalence of Asperger syndrome among patients of an Early Intervention in Psychosis team.

PubMed

Davidson, Conor; Greenwood, Nick; Stansfield, Alison; Wright, Stephen

2014-05-01

There is a lack of systematic studies into comorbidity of Asperger syndrome and psychosis. To determine the prevalence of Asperger syndrome among patients of an early intervention in psychosis service. This study was a cross-sectional survey consisting of three phases: screening, case note review and diagnostic interviews. All patients on caseload (n = 197) were screened using the Autism Spectrum Disorder in Adults Screening Questionnaire. The case notes of patients screened positive were then reviewed for information relevant to Asperger syndrome. Those suspected of having Asperger syndrome were invited for a diagnostic interview. Thirty patients were screened positive. Three of them already had a diagnosis of Asperger syndrome made by child and adolescent mental health services. After case note review, 13 patients were invited to interview. Four did not take part, so nine were interviewed. At interview, four were diagnosed with Asperger syndrome. In total, seven patients had Asperger syndrome. Thus, the prevalence rate in this population is at least 3.6%. The results suggest that the prevalence of Asperger syndrome in first-episode psychosis is considerably higher than that in the general population. Clinicians working in early intervention teams need to be alert to the possibility of Asperger syndrome when assessing patients. © 2013 Wiley Publishing Asia Pty Ltd.

A Study of Early Fine Motor Intervention in Down's Syndrome Children

ERIC Educational Resources Information Center

Aparicio, Teresa Sanz; Balana, Javier Menendez

2009-01-01

The marked delay in acquisition of fine motor skills in trisomic-21/Down's syndrome children is undeniable. In this study, we began with an affirmation that the cause of this deficit could be found in a different environment for which early intervention is essential. A sample of 30 Down's syndrome children was used to study at different ages: six…

Lesch-Nyhan Syndrome

MedlinePlus

... with the drugs carbidopa/levodopa, diazepam, phenobarbital, or haloperidol. × Treatment Treatment for LNS is symptomatic. Gout can ... with the drugs carbidopa/levodopa, diazepam, phenobarbital, or haloperidol. View Full Treatment Information Definition Lesch-Nyhan syndrome ( ...

Early increased density of cyclooxygenase-2 (COX-2) immunoreactive neurons in Down syndrome.

PubMed

Mulet, Maria; Blasco-Ibáńez, José Miguel; Crespo, Carlos; Nácher, Juan; Varea, Emilio

2017-01-01

Neuroinflammation is one of the hallmarks of Alzheimer's disease. One of the enzymes involved in neuroinflammation, even in early stages of the disease, is COX-2, an inducible cyclooxygenase responsible for the generation of eicosanoids and for the generation of free radicals. Individuals with Down syndrome develop Alzheimer's disease early in life. Previous studies pointed to the possible overexpression of COX-2 and correlated it to brain regions affected by the disease. We analysed the COX-2 expression levels in individuals with Down syndrome and in young, adult and old mice of the Ts65Dn mouse model for Down syndrome. We have observed an overexpression of COX-2 in both, Down syndrome individuals and mice. Importantly, mice already presented an overexpression of COX-2 at postnatal day 30, before neurodegeneration begins; which suggests that neuroinflammation may underlie the posterior neurodegeneration observed in individuals with Down syndrome and in Ts65Dn mice and could be a factor for the premature appearance of Alzheimer's disease..

Risk of malignant arrhythmias in initially symptomatic patients with Wolff-Parkinson-White syndrome: results of a prospective long-term electrophysiological follow-up study.

PubMed

Pappone, Carlo; Vicedomini, Gabriele; Manguso, Francesco; Baldi, Mario; Pappone, Alessia; Petretta, Andrea; Vitale, Raffaele; Saviano, Massimo; Ciaccio, Cristiano; Giannelli, Luigi; Calovic, Zarko; Tavazzi, Luigi; Santinelli, Vincenzo

2012-02-07

The available amount of detailed long-term data in patients with Wolff-Parkinson-White syndrome is limited, and no prospective electrophysiological studies looking at predictors of malignant arrhythmia are available. Among 8575 symptomatic Wolff-Parkinson-White patients with atrioventricular reentrant tachycardia referred for electrophysiological test, 369 (mean age, 23±12.5 years) declined catheter ablation and were followed up. The primary end point of the study was to evaluate over a 5-year follow-up the predictors and characteristics of patients who develop malignant arrhythmias. After a mean follow-up of 42.1±10 months, malignant arrhythmias developed in 29 patients (mean age, 13.9±5.6 years; 26 male), resulting in presyncope/syncope (25 patients), hemodynamic collapse (3 patients), or cardiac arrest caused by ventricular fibrillation (1 patient). Of the remaining 340 patients, 168 (mean age, 34.2±9.0 years) remained asymptomatic up to 5 years, and 172 (mean age, 13.6±5.1 years) had benign recurrence, including sustained atrioventricular reentrant tachycardia (132 patients) or atrial fibrillation (40 patients). Compared with the group with no malignant arrhythmias, the group with malignant arrhythmias showed shorter accessory-pathway effective refractory period (P<0.001) and more often exhibited multiple accessory pathways (P<0.001), and atrioventricular reentrant tachycardia triggering sustained pre-excited atrial fibrillation was more frequently inducible (P<0.001). Multivariable analysis demonstrated that short accessory-pathway effective refractory period (P<0.001) and atrioventricular reentrant tachycardia triggering sustained pre-excited atrial fibrillation (P<0.001) were independent predictors of malignant arrhythmias. Symptomatic patients with Wolff-Parkinson-White syndrome generally have a good outcome, and predictors of malignant arrhythmias are similar to those reported for asymptomatic patients with ventricular pre-excitation.

Early versus delayed, provisional eptifibatide in acute coronary syndromes.

PubMed

Giugliano, Robert P; White, Jennifer A; Bode, Christoph; Armstrong, Paul W; Montalescot, Gilles; Lewis, Basil S; van 't Hof, Arnoud; Berdan, Lisa G; Lee, Kerry L; Strony, John T; Hildemann, Steven; Veltri, Enrico; Van de Werf, Frans; Braunwald, Eugene; Harrington, Robert A; Califf, Robert M; Newby, L Kristin

2009-05-21

Glycoprotein IIb/IIIa inhibitors are indicated in patients with acute coronary syndromes who are undergoing an invasive procedure. The optimal timing of the initiation of such therapy is unknown. We compared a strategy of early, routine administration of eptifibatide with delayed, provisional administration in 9492 patients who had acute coronary syndromes without ST-segment elevation and who were assigned to an invasive strategy. Patients were randomly assigned to receive either early eptifibatide (two boluses, each containing 180 microg per kilogram of body weight, administered 10 minutes apart, and a standard infusion > or = 12 hours before angiography) or a matching placebo infusion with provisional use of eptifibatide after angiography (delayed eptifibatide). The primary efficacy end point was a composite of death, myocardial infarction, recurrent ischemia requiring urgent revascularization, or the occurrence of a thrombotic complication during percutaneous coronary intervention that required bolus therapy opposite to the initial study-group assignment ("thrombotic bailout") at 96 hours. The key secondary end point was a composite of death or myocardial infarction within the first 30 days. Key safety end points were bleeding and the need for transfusion within the first 120 hours after randomization. The primary end point occurred in 9.3% of patients in the early-eptifibatide group and in 10.0% in the delayed-eptifibatide group (odds ratio, 0.92; 95% confidence interval [CI], 0.80 to 1.06; P=0.23). At 30 days, the rate of death or myocardial infarction was 11.2% in the early-eptifibatide group, as compared with 12.3% in the delayed-eptifibatide group (odds ratio, 0.89; 95% CI, 0.79 to 1.01; P=0.08). Patients in the early-eptifibatide group had significantly higher rates of bleeding and red-cell transfusion. There was no significant difference between the two groups in rates of severe bleeding or nonhemorrhagic serious adverse events. In patients who had acute

Neurological soft signs in juvenile patients with Asperger syndrome, early-onset psychosis, and healthy controls.

PubMed

Mayoral, María; Merchán-Naranjo, Jessica; Rapado, Marta; Leiva, Marta; Moreno, Carmen; Giráldez, Marisa; Arango, Celso; Parellada, Mara

2010-11-01

The study of neurological soft signs (NSS) in patients with Asperger syndrome may help us to elucidate the neurological basis of this disorder and to clarify its relationship with other neurodevelopmental disorders. The goal of this study was to compare the prevalence of NSS in a sample of patients with Asperger syndrome, early-onset psychosis and healthy controls. NSS were assessed by means of the Neurological Evaluation Scale in a sample of 29 patients with Asperger syndrome (mean age = 12.86 ± 2.58 years), 30 patients with first-episode early-onset psychoses (mean age 14.17 ± 1.02 years) and 30 healthy controls (mean age 12.33 ± 2.69 years). Significant group differences were found between Asperger syndrome patients and healthy controls both in all the Neurological Evaluation Scale subscales and in the Neurological Evaluation Scale total score. There were no significant differences between both groups of patients in any of the Neurological Evaluation Scale scores. NSS are more prevalent in Asperger syndrome than in healthy controls. The NSS profile was not disorder-specific in our samples of patients with Asperger syndrome and early-onset psychoses. © 2010 Blackwell Publishing Asia Pty Ltd.

CHD associated with syndromic diagnoses: peri-operative risk factors and early outcomes

PubMed Central

Landis, Benjamin J.; Cooper, David S.; Hinton, Robert B.

2016-01-01

CHD is frequently associated with a genetic syndrome. These syndromes often present specific cardiovascular and non-cardiovascular co-morbidities that confer significant peri-operative risks affecting multiple organ systems. Although surgical outcomes have improved over time, these co-morbidities continue to contribute substantially to poor peri-operative mortality and morbidity outcomes. Peri-operative morbidity may have long-standing ramifications on neurodevelopment and overall health. Recognising the cardiovascular and non-cardiovascular risks associated with specific syndromic diagnoses will facilitate expectant management, early detection of clinical problems, and improved outcomes – for example, the development of syndrome-based protocols for peri-operative evaluation and prophylactic actions may improve outcomes for the more frequently encountered syndromes such as 22q11 deletion syndrome. PMID:26345374

Sports and Marfan Syndrome: Awareness and Early Diagnosis Can Prevent Sudden Death.

ERIC Educational Resources Information Center

Salim, Mubadda A.; Alpert, Bruce S.

2001-01-01

Physicians who work with athletes play an important role in preventing sudden death related to physical activity in people who have Marfan syndrome. Flagging those who have the physical stigmata and listening for certain cardiac auscultation sounds are early diagnostic keys that can help prevent deaths. People with Marfan syndrome should be…

fMRI response during visual motion stimulation in patients with late whiplash syndrome.

PubMed

Freitag, P; Greenlee, M W; Wachter, K; Ettlin, T M; Radue, E W

2001-01-01

After whiplash trauma, up to one fourth of patients develop chronic symptoms including head and neck pain and cognitive disturbances. Resting perfusion single-photon-emission computed tomography (SPECT) found decreased temporoparietooccipital tracer uptake among these long-term symptomatic patients with late whiplash syndrome. As MT/MST (V5/V5a) are located in that area, this study addressed the question whether these patients show impairments in visual motion perception. We examined five symptomatic patients with late whiplash syndrome, five asymptomatic patients after whiplash trauma, and a control group of seven volunteers without the history of trauma. Tests for visual motion perception and functional magnetic resonance imaging (fMRI) measurements during visual motion stimulation were performed. Symptomatic patients showed a significant reduction in their ability to perceive coherent visual motion compared with controls, whereas the asymptomatic patients did not show this effect. fMRI activation was similar during random dot motion in all three groups, but was significantly decreased during coherent dot motion in the symptomatic patients compared with the other two groups. Reduced psychophysical motion performance and reduced fMRI responses in symptomatic patients with late whiplash syndrome both point to a functional impairment in cortical areas sensitive to coherent motion. Larger studies are needed to confirm these clinical and functional imaging results to provide a possible additional diagnostic criterion for the evaluation of patients with late whiplash syndrome.

Failed back surgery syndrome: the role of symptomatic segmental single-level instability after lumbar microdiscectomy.

PubMed

Schaller, B

2004-05-01

Segmental instability represents one of several different factors that may cause or contribute to the failed back surgery syndrome after lumbar microdiscectomy. As segmental lumbar instability poses diagnostic problems by lack of clear radiological and clinical criteria, only little is known about the occurrence of this phenomenon following primary microdiscectomy. Retrospectively, the records of 2,353 patients were reviewed according to postoperative symptomatic segmental single-level instability after lumbar microdiscectomy between 1989 and 1997. Progressive neurological deficits increased (mean of 24 months; SD: 12, range 1-70) after the initial surgical procedure in 12 patients. The mean age of the four men and eight women was 43 years (SD: 6, range 40-77). The main symptoms and signs of secondary neurological deterioration were radicular pain in 9 of 12 patients, increased motor weakness in 6 of 12 patients and sensory deficits in 4 of 12 patients. All 12 symptomatic patients had radiological evidence of segmental changes correlating with the clinical symptoms and signs. All but one patient showed a decrease in the disc height greater than 30% at the time of posterior spondylodesis compared with the preoperative images before lumbar microdiscectomy. All patients underwent secondary laminectomy and posterior lumbar sponylodesis. Postoperatively, pain improved in 8 of 9 patients, motor weakness in 3 of 6 patients, and sensory deficits in 2 of 4 patients. During the follow-up period of 72+/-7 months, one patient required a third operation to alleviate spinal stenosis at the upper end of the laminectomy. Patients with secondary segmental instability following microdiscectomy were mainly in their 40s. Postoperative narrowing of the intervertebral space following lumbar microdiscectomy is correlated to the degree of intervertebral disc resection. It can therefore be concluded that (1) patients in their 40s are prone to postoperative narrowing of the intervertebral

Early RAAS Blockade Exerts Renoprotective Effects in Autosomal Recessive Alport Syndrome.

PubMed

Uchida, Nao; Kumagai, Naonori; Nozu, Kandai; Fu, Xue Jun; Iijima, Kazumoto; Kondo, Yoshiaki; Kure, Shigeo

2016-11-01

Alport syndrome is a progressive renal disease caused by mutations in COL4A3, COL4A4, and COL4A5 genes that encode collagen type IV alpha 3, alpha 4, and alpha 5 chains, respectively. Because of abnormal collagen chain, glomerular basement membrane becomes fragile and most of the patients progress to end-stage renal disease in early adulthood. COL4A5 mutation causes X-linked form of Alport syndrome, and two mutations in either COL4A3 or COL4A4 causes an autosomal recessive Alport syndrome. Recently, renin-angiotensin-aldosterone system (RAAS) blockade has been shown to attenuate effectively disease progression in Alport syndrome. Here we present three Japanese siblings and their father all diagnosed with autosomal recessive Alport syndrome and with different clinical courses, suggesting the importance of the early initiation of RAAS blockade. The father was diagnosed with Alport syndrome. His consanguineous parents and his wife were healthy. All three siblings showed hematuria since infancy. Genetic analysis revealed that they shared the same gene mutations in COL4A3 in a compound heterozygous state: c.2330G>A (p.Gly777Ala) from the mother and c.4354A>T (p.Ser1452Cys) from the father. Although RAAS blockade was initiated for the older sister and brother when their renal function was already impaired, it did not attenuate disease progression. In the youngest brother, RAAS blockade was initiated during normal renal function stage. After the initiation, his renal function has been normal with the very mild proteinuria to date at the age of 17 years. We propose that in Alport syndrome, RAAS blockade should be initiated earlier than renal function is impaired.

The postthrombotic syndrome.

PubMed

Pesavento, Raffaele; Villalta, Sabina; Prandoni, Paolo

2010-06-01

Following deep vein thrombosis (DVT), one of every two patients will develop postthrombotic syndrome (PTS), which causes remarkable consequences on the socioeconomic level. Residual thrombosis is an important predictor of PTS, and severe early symptoms, old age, obesity, improper anticoagulation, recurrent thrombosis and varicose veins are major risk factors. Diagnosis of PTS is mainly based on the clinical findings for patients with a history of DVT, while in those without it, instrumental diagnosis might help in detecting a previous DVT. Prompt administration of adequate compression elastic stockings (ECS) in patients with symptomatic DVT reduces the frequency of PTS by half. Usually, the management of an established PTS is demanding, and often discouraging. However, when carefully supervised and instructed to wear proper ECS, more than 50% of patients either remain quiescent or improve during long-term follow-up.

Temporal Dynamics of Host Molecular Responses Differentiate Symptomatic and Asymptomatic Influenza A Infection

PubMed Central

Huang, Yongsheng; Zaas, Aimee K.; Rao, Arvind; Dobigeon, Nicolas; Woolf, Peter J.; Veldman, Timothy; Øien, N. Christine; McClain, Micah T.; Varkey, Jay B.; Nicholson, Bradley; Carin, Lawrence; Kingsmore, Stephen; Woods, Christopher W.; Ginsburg, Geoffrey S.; Hero, Alfred O.

2011-01-01

Exposure to influenza viruses is necessary, but not sufficient, for healthy human hosts to develop symptomatic illness. The host response is an important determinant of disease progression. In order to delineate host molecular responses that differentiate symptomatic and asymptomatic Influenza A infection, we inoculated 17 healthy adults with live influenza (H3N2/Wisconsin) and examined changes in host peripheral blood gene expression at 16 timepoints over 132 hours. Here we present distinct transcriptional dynamics of host responses unique to asymptomatic and symptomatic infections. We show that symptomatic hosts invoke, simultaneously, multiple pattern recognition receptors-mediated antiviral and inflammatory responses that may relate to virus-induced oxidative stress. In contrast, asymptomatic subjects tightly regulate these responses and exhibit elevated expression of genes that function in antioxidant responses and cell-mediated responses. We reveal an ab initio molecular signature that strongly correlates to symptomatic clinical disease and biomarkers whose expression patterns best discriminate early from late phases of infection. Our results establish a temporal pattern of host molecular responses that differentiates symptomatic from asymptomatic infections and reveals an asymptomatic host-unique non-passive response signature, suggesting novel putative molecular targets for both prognostic assessment and ameliorative therapeutic intervention in seasonal and pandemic influenza. PMID:21901105

Biological Terrorism Preparedness: Evaluating the Performance of the Early Aberration Reporting System (EARS) Syndromic Surveillance Algorithms

DTIC Science & Technology

2007-06-01

PREPAREDNESS: EVALUATING THE PERFORMANCE OF THE EARLY ABERRATION REPORTING SYSTEM (EARS) SYNDROMIC SURVEILLANCE ALGORITHMS by David A...SUBTITLE Biological Terrorism Preparedness: Evaluating the Performance of the Early Aberration Reporting System (EARS) Syndromic Surveillance...Algorithms 6. AUTHOR(S) David Dunfee, Benjamin Hegler 5. FUNDING NUMBERS 7. PERFORMING ORGANIZATION NAME(S) AND ADDRESS(ES) Naval Postgraduate School

Changing the Perspective on Early Development of Rett Syndrome

ERIC Educational Resources Information Center

Marschik, Peter B.; Kaufmann, Walter E.; Sigafoos, Jeff; Wolin, Thomas; Zhang, Dajie; Bartl-Pokorny, Katrin D.; Pini, Giorgio; Zappella, Michele; Tager-Flusberg, Helen; Einspieler, Christa; Johnston, Michael V.

2013-01-01

We delineated the achievement of early speech-language milestones in 15 young children with Rett syndrome ("MECP2" positive) in the first two years of life using retrospective video analysis. By contrast to the commonly accepted concept that these children are normal in the pre-regression period, we found markedly atypical development of…

Communication in the Early Stage of Language Development in Children with CHARGE Syndrome

ERIC Educational Resources Information Center

Peltokorpi, Sini; Huttunen, Kerttu

2008-01-01

CHARGE syndrome is characterized by multiple physical abnormalities, and impaired vision and hearing. In this pilot study, communication in the early stage of language development in three one- to eight-year-old children with CHARGE syndrome was explored using video recorded free-play interaction sessions and a parental questionnaire. The children…

Role of Doppler Sonography in Early Detection of Splenic Steal Syndrome.

PubMed

Li, Chaolun; Quintini, Cristiano; Hashimoto, Koji; Fung, John; Obuchowski, Nancy A; Sands, Mark J; Wang, Weiping

2016-07-01

To retrospectively investigate the role of Doppler sonography in the early detection of splenic steal syndrome. Fifty cases of splenic steal syndrome after orthotopic liver transplantation were identified. A control group was matched to the splenic steal syndrome group. Information was collected about the clinical presentation, liver enzyme levels, Doppler sonographic results, and follow-up after patients underwent splenic artery embolization. A persistent hepatic arterial diastolic reversal waveform was observed in 25 patients with splenic steal syndrome versus 0 control patients. The mean hepatic arterial resistive index (RI) values ± SD were 0.95 ± 0.09 in patients with splenic steal syndrome and 0.80 ± 0.10 in control patients (P < .0001). One week after orthotopic liver transplantation, the area under the receiver operating characteristic curve for the RI was 0.884 (95% confidence interval, 0.793-0.975; P = .001) for splenic steal syndrome diagnosis. After splenic artery embolization, there was normalization of the reversal waveform, with an average RI of 0.77 ± 0.11 (P < .0001). Dynamic changes in the hepatic arterial waveform and RI are keys to detecting splenic steal syndrome with Doppler sonography.

[Foix-Alajouanine syndrome, what is it?].

PubMed

Shuleshova, N V; Skoromets, A A; Lu, C; Zabrodskaia, Iu M; Sartakova-Korzhova, A N; Nutfullina, G M; Krasnov, V S

2014-01-01

The article contains the description of Foix-Alajouanine syndrome (FAS) from literature. Three our own cases of FAS, which developed in two men and one woman, are presented. An analysis of FAS clinical picture revealed a step-like progression of the disease with a possibility of short-term fluctuation of some focal neurological signs. Five stages of clinical course of FAS were detected. Some peculiar sings of spinal neurovisualization, together with serum and cerebro-spinal fluid (CSF) laboratory examinations, were indicated in FAS. Surgery is first-choice of FAS treatment. Pharmacological treatment with high doses of anticoagulants, together with antiviral therapy (and antibiotics, if necessary), neuroprotectors, antiedematic and symptomatic therapy must be started early. Prevention of thrombotic, trophic and purulent complications is required.

In patients with minimally symptomatic OSA can baseline characteristics and early patterns of CPAP usage predict those who are likely to be longer-term users of CPAP.

PubMed

Turnbull, Christopher D; Bratton, Daniel J; Craig, Sonya E; Kohler, Malcolm; Stradling, John R

2016-02-01

Long-term continuous positive airway pressure (CPAP) usage varies between individuals. It would be of value to be able to identify those who are likely to benefit from CPAP (and use it long term), versus those who would not, and might therefore benefit from additional help early on. First, we explored whether baseline characteristics predicted CPAP usage in minimally symptomatic obstructive sleep apnoea (OSA) patients, a group who would be expected to have low usage. Second, we explored if early CPAP usage was predictive of longer-term usage, as has been shown in more symptomatic OSA patients. The MOSAIC trial was a multi-centre randomised controlled trial where minimally symptomatic OSA patients were randomised to CPAP, or standard care, for 6 months. Here we have studied only those patients randomised to CPAP treatment. Baseline characteristics including symptoms, questionnaires [including the Epworth sleepiness score (ESS)] and sleep study parameters were recorded. CPAP usage was recorded at 2-4 weeks after initiation and after 6 months. The correlation and association between baseline characteristics and 6 months CPAP usage was assessed, as was the correlation between 2 and 4 weeks CPAP usage and 6 months CPAP usage. One hundred and ninety-five patients randomised to CPAP therapy had median [interquartile range (IQR)] CPAP usage of 2:49 (0:44, 5:13) h:min/night (h/n) at the 2-4 weeks visit, and 2:17 (0:08, 4:54) h/n at the 6 months follow-up visit. Only male gender was associated with increased long-term CPAP use (male usage 2:56 h/n, female 1:57 h/n; P=0.02). There was a moderate correlation between the usage of CPAP at 2-4 weeks and 6 months, with about 50% of the variability in long-term use being predicted by the short-term use. In patients with minimally symptomatic OSA, our study has shown that male gender (and not OSA severity or symptom burden) is associated with increased long-term use of CPAP at 6 months. Although, in general, early patterns of CPAP

In patients with minimally symptomatic OSA can baseline characteristics and early patterns of CPAP usage predict those who are likely to be longer-term users of CPAP

PubMed Central

Bratton, Daniel J.; Craig, Sonya E.; Kohler, Malcolm; Stradling, John R.

2016-01-01

Background Long-term continuous positive airway pressure (CPAP) usage varies between individuals. It would be of value to be able to identify those who are likely to benefit from CPAP (and use it long term), versus those who would not, and might therefore benefit from additional help early on. First, we explored whether baseline characteristics predicted CPAP usage in minimally symptomatic obstructive sleep apnoea (OSA) patients, a group who would be expected to have low usage. Second, we explored if early CPAP usage was predictive of longer-term usage, as has been shown in more symptomatic OSA patients. Methods The MOSAIC trial was a multi-centre randomised controlled trial where minimally symptomatic OSA patients were randomised to CPAP, or standard care, for 6 months. Here we have studied only those patients randomised to CPAP treatment. Baseline characteristics including symptoms, questionnaires [including the Epworth sleepiness score (ESS)] and sleep study parameters were recorded. CPAP usage was recorded at 2–4 weeks after initiation and after 6 months. The correlation and association between baseline characteristics and 6 months CPAP usage was assessed, as was the correlation between 2 and 4 weeks CPAP usage and 6 months CPAP usage. Results One hundred and ninety-five patients randomised to CPAP therapy had median [interquartile range (IQR)] CPAP usage of 2:49 (0:44, 5:13) h:min/night (h/n) at the 2–4 weeks visit, and 2:17 (0:08, 4:54) h/n at the 6 months follow-up visit. Only male gender was associated with increased long-term CPAP use (male usage 2:56 h/n, female 1:57 h/n; P=0.02). There was a moderate correlation between the usage of CPAP at 2–4 weeks and 6 months, with about 50% of the variability in long-term use being predicted by the short-term use. Conclusions In patients with minimally symptomatic OSA, our study has shown that male gender (and not OSA severity or symptom burden) is associated with increased long-term use of CPAP at 6 months

Early- and Middle-Term Surgical Outcomes in Patients with Heterotaxy Syndrome.

PubMed

Chen, Weidan; Ma, Li; Cui, Hujun; Yang, Shengchun; Xia, Yuansheng; Zou, Minghui; Chen, Xinxin

2016-01-01

Heterotaxy syndrome is a recognized risk factor for surgical cardiac interventions. We evaluated the early- and middle-term results of a surgical intervention for patients with heterotaxy syndrome. A total of 42 patients with heterotaxy syndrome were enrolled (September 2008 to March 2015). Left and right atrial isomerism were identified in 26% (11 out of 42) and 74% of patients (31 out of 42), respectively. The median age of the patients at the time of surgery was 6.8 months (range: 5 days to 22.3 years). Biventricular repair was completed in 3 patients with left atrial isomerism. Seventeen out of 39 patients who were scheduled for single ventricular repair completed a modified Fontan procedure. The hospital mortality rate was 4.7% (2 out of 42). Another 5 deaths occurred in the remaining survivors following hospital discharge with a follow-up duration of 45.8 ± 23.6 months (range: 13-111 months). The 1-year and 5-year survival rates were 88.1% (37/42) and 83.3% (35/42), respectively. Univariate analysis and multivariate analysis identified pulmonary venous obstruction and atrioventricular valve replacement as additional risk factors for mortality. Right ventricular bypass surgery remains the preferred palliative procedure for patients with heterotaxy syndrome. Based on the current results, the early- and middle-term outcomes are satisfactory. © 2015 S. Karger AG, Basel.

[Epilepsy and epileptic syndromes during the first year of life].

PubMed

Durá-Travé, T; Yoldi-Petri, M E; Hualde-Olascoaga, J; Etayo-Etayo, V

To analyse the epidemiological characteristics and the relative distribution of the different types of epilepsy and epileptic syndromes during the first year of life. An analysis was performed of the patient records of all patients with epilepsy diagnosed during their first year of life who were submitted to a developmental check-up in the year 2007. The sample consisted of 60 patients (27 boys and 33 girls). Epidemiological and clinical data were collected, together with the findings from complementary examinations. The diagnostic criteria applied were those of the International League Against Epilepsy. The mean age at the time of diagnosis was 6.3 months. The mean follow-up time was 7.6 years. The aetiology was symptomatic in 40 cases (66.7%), cryptogenic in 16 (26.7%) and idiopathic in four cases (6.7%). Neuroimaging tests detected abnormalities in 34 patients (56.7%). West's syndrome (30%), symptomatic focal epilepsies (23.3%) and epilepsies linked to specific syndromes (16.7%) were the epileptic syndromes with the highest prevalence. Learning disabilities were observed in 82.5% of the children. Most epilepsies that present during the first year of life are symptomatic and/or cryptogenic, and are accompanied by psychoneurological impairment and/or resistance to therapy, which condition cognitive disorders that are eligible for specialised psycho-pedagogical intervention.

Risk factors for early death in transient myeloproliferative disorder without phenotypic features of Down syndrome: a case report and literature review.

PubMed

Kawase, Koya; Azuma, Eiichi; Ohshita, Hironori; Tanaka, Tatsushi; Hanada, Yu; Sasaki, Tomoaki; Sugimoto, Mari; Togawa, Takao; Kouwaki, Masanori; Ito, Tsuyoshi; Hirayama, Masahiro; Koyama, Norihisa

2012-08-01

Not only in newborns with Down syndrome, but newborns without phenotypic features of Down syndrome also develop transient myeloproliferative disorder (TMD). In these cases, trisomy 21 and related chromosomal abnormalities are either constitutionally mosaic or limited to blood cells. Risk factors for early death of these patients are unknown so far. We here report a fatal case of TMD without phenotypic features of Down syndrome and review literature to identify risk factors associated with early death. Not only are gestational age and white blood cell count risk factors for early death in TMD with Down syndrome, but they also appear to be risk factors in TMD without Down syndrome.

A Case Study of Early Development in Smith-Magenis Syndrome

ERIC Educational Resources Information Center

Fidler, Deborah J.; Philofsky, Amy D.; Hepburn, Susan L.

2006-01-01

The aim of this article is to provide an in-depth description of early development in a young child with Smith-Magenis syndrome (SMS). SMS is a multisystem, neurodevelopmental genetic disorder associated with mental retardation that predisposes individuals to a distinct pattern of maladaptive behaviors and other neuropsychological impairments.…

Detection of Treponema Denticola in Symptomatic Apical Periodontitis and in Symptomatic Apical Abscesses by Real-Time PCR

PubMed Central

Ozbek, Selcuk M.; Ozbek, Ahmet; Erdogan, Aziz S.

2009-01-01

Objectives: The aim of this study was to investigate the presence of Treponema denticola in symptomatic apical periodontitis and in symptomatic apical abscesses by real-time polymerase chain reaction (PCR) method. Methods: Microbial samples were collected from 60 single-rooted teeth having carious lesions and necrotic pulps. For each tooth, clinical data including patient symptoms were recorded. Teeth were categorized by diagnosis as having symptomatic apical periodontitis or symptomatic apical abscess. Aseptic microbial samples were collected using paper points from 30 infected root canals and from aspirates of 30 abscesses. DNA was extracted from the samples by using a QIAamp® DNA mini-kit and analyzed with real-time PCR. Results: T. denticola was detected in 24 of 30 cases diagnosed as symptomatic apical abscesses (80%), and 19 of 30 cases diagnosed as symptomatic apical periodontitis (63.3%). In general T. denticola was found in 43 of 60 cases (71.6%). Conclusions: Our findings suggest that T. denticola can participate in the pathogenesis of symptomatic apical abscesses. PMID:19421390

Impact of metabolic syndrome on early recovery of continence after robot-assisted radical prostatectomy.

PubMed

Nishikawa, Masatomo; Watanabe, Hiromitsu; Kurahashi, Toshifumi

2017-09-01

To evaluate the impact of metabolic syndrome on the early recovery of urinary continence after robot-assisted radical prostatectomy. The present study included a total of 302 consecutive Japanese patients with clinically localized prostate cancer who underwent robot-assisted radical prostatectomy. In this study, postoperative urinary continence was defined as no leak or the use of a security pad. The continence status was assessed by interviews before and 1 and 3 months after robot-assisted radical prostatectomy. Metabolic syndrome was defined as follows: body mass index ≥25 kg/m 2 and two or more of the following: hypertension, diabetes mellitus and dyslipidemia. The effect of the presence of metabolic syndrome on the continence status of these patients was retrospectively examined. A total of 116 (38.4%) and 203 (67.2%) of the 302 patients were continent at 1 and 3 months after robot-assisted radical prostatectomy, respectively. A total of 31 (10.3%) patients were judged to have metabolic syndrome. Despite the operative time being longer in patients with metabolic syndrome, no significant differences were observed in the remaining preoperative, intraoperative or postoperative variables between patients with or without metabolic syndrome. On multivariate logistic regression analysis, metabolic syndrome and the duration of hospitalization were significantly correlated with the 1-month continence status. Similarly, metabolic syndrome and estimated blood loss during surgery were independent predictors of continence rates at 3 months after robot-assisted radical prostatectomy. These findings suggest that the presence of metabolic syndrome could have a significant impact on the early recovery of urinary continence after robot-assisted radical prostatectomy. © 2017 The Japanese Urological Association.

Long term prognosis of symptomatic occipital lobe epilepsy secondary to neonatal hypoglycemia.

PubMed

Montassir, Hesham; Maegaki, Yoshihiro; Ohno, Kousaku; Ogura, Kaeko

2010-02-01

To report on long-term clinical course in patients with symptomatic occipital lobe epilepsy secondary to neonatal hypoglycemia. Six patients with neonatal hypoglycemia and symptomatic occipital lobe epilepsy were studied in our hospital through reviewing their medical records retrospectively. The median onset age of epilepsy was 2 years 8 months and median follow-up period was 12 years and 4 months. Initial seizure types were generalized convulsions in 4 patients, hemiconvulsion in 1, and infantile spasms in 1. Ictal manifestations of main seizures were identical to occipital lobe seizures, such as eye deviation, eye blinking, ictal vomiting, and visual hallucination. Seizure frequency was maximum during infancy and early childhood and decreased thereafter with no seizure in 2 patients, a few seizures a year in 3, and once a month in 1. All patients had status epilepticus in the early course of epilepsy. EEGs showed parieto-occipital spikes in all patients. MRI revealed cortical atrophy and T2 prolongation parieto-occipitally in 4 patients, hippocampal atrophy in 1, and unremarkable in 1. This study indicates that epilepsy secondary to neonatal hypoglycemia is intractable during infancy and early childhood with frequent status epilepticus but tends to decrease in older age.

Wolff-Parkinson-White syndrome concomitant with idiopathic ventricular fibrillation associated with inferior early repolarization.

PubMed

Takahashi, Naohiko; Shinohara, Tetsuji; Hara, Masahide; Saikawa, Tetsunori

2012-01-01

We encountered a 39-year-old man with documented ventricular fibrillation (VF). His ECGs showed intermittent Wolff-Parkinson-White (WPW) syndrome pattern. During electrophysiological study, no ventricular preexcitation was observed. An accessory pathway located at the posterior mitral annulus was identified, and successfully eliminated by radiofrequency catheter ablation. VF was not induced. His ECGs in the absence of delta waves demonstrated early repolarization in the inferior leads. This case raises the possibility that patients with manifest WPW syndrome may have an arrhythmogenic substrate associated with early repolarization, and the characteristic J waves can be masked by the presence of ventricular preexcitation.

New non-invasive method for early detection of metabolic syndrome in the working population.

PubMed

Romero-Saldaña, Manuel; Fuentes-Jiménez, Francisco J; Vaquero-Abellán, Manuel; Álvarez-Fernández, Carlos; Molina-Recio, Guillermo; López-Miranda, José

2016-12-01

We propose a new method for the early detection of metabolic syndrome in the working population, which was free of biomarkers (non-invasive) and based on anthropometric variables, and to validate it in a new working population. Prevalence studies and diagnostic test accuracy to determine the anthropometric variables associated with metabolic syndrome, as well as the screening validity of the new method proposed, were carried out between 2013 and 2015 on 636 and 550 workers, respectively. The anthropometric variables analysed were: blood pressure, body mass index, waist circumference, waist-height ratio, body fat percentage and waist-hip ratio. We performed a multivariate logistic regression analysis and obtained receiver operating curves to determine the predictive ability of the variables. The new method for the early detection of metabolic syndrome we present is based on a decision tree using chi-squared automatic interaction detection methodology. The overall prevalence of metabolic syndrome was 14.9%. The area under the curve for waist-height ratio and waist circumference was 0.91 and 0.90, respectively. The anthropometric variables associated with metabolic syndrome in the adjusted model were waist-height ratio, body mass index, blood pressure and body fat percentage. The decision tree was configured from the waist-height ratio (⩾0.55) and hypertension (blood pressure ⩾128/85 mmHg), with a sensitivity of 91.6% and a specificity of 95.7% obtained. The early detection of metabolic syndrome in a healthy population is possible through non-invasive methods, based on anthropometric indicators such as waist-height ratio and blood pressure. This method has a high degree of predictive validity and its use can be recommended in any healthcare context. © The European Society of Cardiology 2016.

Malory-Weis syndrome based on own experience - diagnostics and modern principles of management.

PubMed

Cybułka, Bartosz

2016-03-01

Every gastrointestinal bleeding is an immediate threat to life, requiring close supervision in a hospital setting and making it mandatory to perform verification and endoscopic intervention. In some cases of a dynamic course, in order to make up deficiencies, it is necessary to use blood and blood products. One of the causes of bleeding located proximally to the ligament of Treitz is damage to the mucous membrane and deeper layers of the gastroesophageal junction, called Mallory-Weiss syndrome. The aim of the study was retrospective analysis of a selected group of patients with symptomatic upper gastrointestinal bleeding in the course of Mallory-Weiss syndrome, identification of typical characteristics of this disease entity in the studied population as well as demonstration of the effectiveness of endoscopic treatment using argon plasma coagulation (APC). The analysis included 2120 gastroscopy results, with 111 (5.24%) examinations conducted due to symptomatic gastrointestinal bleeding. In the studied group, endoscopic diagnosis of Mallory-Weiss syndrome was made in 22 patients (1.04%). The studied disease entity was the cause of upper gastrointestinal bleeding in 19.82% of cases. Although this condition is usually characterised by a mild and self-limiting course, 59.09% of patients in the studied group required therapeutic endoscopic intervention due to active bleeding. In 54.55%, argon plasma coagulation was successfully used to control the source of bleeding. Early gastroscopy, which remains both a diagnostic and therapeutic intervention, guarantees effective control of the clinical course of Mallory-Weiss syndrome. Endoscopic argon plasma coagulation is an effective way to treat bleeding, used in endoscopic monotherapy or in combination with other procedures.

Usher syndrome type 1: early detection of electroretinographic changes.

PubMed

Flores-Guevara, Roberto; Renault, Francis; Loundon, Natalie; Marlin, Sandrine; Pelosse, Béatrice; Momtchilova, Martha; Auzoux-Chevé, Monique; Vermersch, Anne Isabelle; Richard, Pascal

2009-11-01

Usher syndrome type 1 needs to be diagnosed at early age in order to timely manage speech therapy, cochlear implantation, and genetic counseling. Few data are available regarding electroretinographic testing before the age of six years. To describe electroretinographic changes in young children with Usher syndrome type 1. Retrospective study of fourteen patients. Age at first neurophysiologic testing was between 17 months and 5 years 4 months. Electroretinogram was performed using flash stimulation in mesopic conditions in the conscious child. Analysis was focused on the amplitudes and latencies of a- and b-waves. Whatever the age, an abnormal fundus was always confirmed with an absent electroretinogram. The youngest patient with absent electroretinogram was 17 month-old. When recorded on and after the 29th month of age, electroretinogram was absent in all cases, including 6 patients with normal fundus. In three patients a low-amplitude electroretinogram was present at first recording within the 26th and 27th months. Electroretinogram showed retinopathy in young children with Usher syndrome type 1, even in the absence of fundoscopic signs of retinal degeneration.

Treatment of very early rheumatoid arthritis with symptomatic therapy, disease-modifying antirheumatic drugs, or biologic agents: a cost-effectiveness analysis.

PubMed

Finckh, Axel; Bansback, Nick; Marra, Carlo A; Anis, Aslam H; Michaud, Kaleb; Lubin, Stanley; White, Marc; Sizto, Sonia; Liang, Matthew H

2009-11-03

Long-term control or remission of rheumatoid arthritis (RA) may be possible with very early treatment. However, no optimal first therapeutic strategy has been determined. To assess the potential cost-effectiveness of major therapeutic strategies for very early RA. Decision analytic model with probabilistic sensitivity analyses. Published data, the National Data Bank for Rheumatic Diseases, and actual 2007 hospital costs. U.S. adults with very early RA (symptom duration symptomatic or "pyramid" strategy with initial nonsteroidal anti-inflammatory drugs, patient education, pain management, and low-dose glucocorticoids, and disease-modifying antirheumatic drugs (DMARDs) at 1 year for nonresponders; early DMARD therapy with methotrexate; and early therapy with biologics and methotrexate. Cost per quality-adjusted life-year (QALY) gained. By reducing the progression of joint erosions and subsequent functional disability, both early intervention strategies increase quality-adjusted life more than the pyramid strategy and save long-term costs. When the cost of very early intervention is factored in, the cost-effectiveness ratio of the early DMARD strategy is $4849 per QALY (95% CI, $0 to $16 354 per QALY) compared with the pyramid strategy, whereas the benefits gained through the early biologic strategy come at a substantial incremental cost. The early DMARD strategy maximizes the effectiveness of early DMARDs and reserves the use of biologics for patients with more treatment-resistant disease of longer duration, for which the incremental benefit of biologics is greater. The early biologic strategy becomes more cost-effective if drug prices are reduced, risk for death is permanently lowered through biologic therapy, patients experience drug-free remission, responders can be selected before therapy initiation, or effective alternative antirheumatic agents are available for

Early predictors of Guillain-Barré syndrome in the life course of women.

PubMed

Auger, Nathalie; Quach, Caroline; Healy-Profitós, Jessica; Dinh, Trish; Chassé, Michaël

2018-02-01

We sought to determine if immune disorders early in life were associated with the later risk of Guillain-Barré syndrome, a neurological disorder thought to be infection-related. We conducted a longitudinal cohort study with 16 108 819 person-years of follow-up for a population of 1 108 541 parous women in Quebec, Canada (1989-2014). The outcome was Guillain-Barré syndrome. We identified women with potential risk factors for future Guillain-Barré syndrome, including immune-mediated and rheumatological diseases, cancer, transfusion, surgical procedures and pregnancy-specific disorders. We estimated hazard ratios (HR) and 95% confidence intervals (CI) for the association of risk factors with later onset of Guillain-Barré syndrome, adjusted for personal characteristics of women. The overall incidence of Guillain-Barré syndrome was 1.42 per 100 000 person-years. Incidence was higher for women with immune-mediated (8.79 per 100 000 person-years) and rheumatological disorders (9.84 per 100 000 person-years), transfusion (4.41 per 100 000 person-years), and preeclampsia (2.62 per 100 000 person-years). Immune-mediated disorders were associated with six times the risk of Guillain-Barré syndrome (HR 6.57, 95% CI 3.58 to 12.04), rheumatological disorders with seven times the risk (HR 7.23, 95% CI 3.21 to 16.28), transfusion three times the risk (HR 3.58, 95% CI 1.83 to 6.98) and preeclampsia two times the risk (HR 2.01, 95% CI 1.29 to 3.12). Women with other potential risk factors did not have an increased risk of Guillain-Barré syndrome. Immune-related conditions that occur early in life are associated with an increased risk of Guillain-Barré syndrome. The pathophysiology of Guillain-Barré syndrome may extend beyond infectious triggers. © The Author 2017; all rights reserved. Published by Oxford University Press on behalf of the International Epidemiological Association

Working Memory in Early-School-Age Children with Asperger's Syndrome

ERIC Educational Resources Information Center

Cui, Jifang; Gao, Dingguo; Chen, Yinghe; Zou, Xiaobing; Wang, Ya

2010-01-01

Using a battery of working memory span tasks and n-back tasks, this study aimed to explore working memory functions in early-school-age children with Asperger's syndrome (AS). Twelve children with AS and 29 healthy children matched on age and IQ were recruited. Results showed: (a) children with AS performed better in digit and word recall tasks,…

Endoscopic surgery for young athletes with symptomatic unicameral bone cyst of the calcaneus.

PubMed

Innami, Ken; Takao, Masato; Miyamoto, Wataru; Abe, Satoshi; Nishi, Hideaki; Matsushita, Takashi

2011-03-01

Open curettage with bone graft has been the traditional surgical treatment for symptomatic unicameral calcaneal bone cyst. Endoscopic procedures have recently provided less invasive techniques with shorter postoperative morbidity. The authors' endoscopic procedure is effective for young athletes with symptomatic calcaneal bone cyst. Case series; Level of evidence, 4. Of 16 young athletes with symptomatic calcaneal bone cyst, 13 underwent endoscopic curettage and percutaneous injection of bone substitute under the new method. Three patients were excluded because of short-term follow-up, less than 24 months. For the remaining 10 patients, with a mean preoperative 3-dimensional size of 23 × 31 × 35 mm as calculated by computed tomography, clinical evaluation was made with the American Orthopaedic Foot and Ankle Society Ankle-Hindfoot Scale just before surgery and at the most recent follow-up (mean, 36.2 months; range, 24-51 months), and radiologic assessment was performed at the most recent follow-up, to discover any recurrence or pathologic fracture. Furthermore, the 10 patients-all of whom returned to sports activities-were asked how long it took to return to initial sports activity level after surgery. Mean ankle-hindfoot scale score improved from preoperative 78.7 ± 4.7 points (range, 74-87) to postoperative 98.0 ± 4.2 points (range, 90-100) (P < .001). Pain and functional scores significantly improved after surgery (P < .01 and P < .05, respectively). Radiologic assessment at most recent follow-up revealed no recurrence or pathologic fracture, with retention of injected calcium phosphate cement in all cases. All patients could return to their initial levels of sports activities within 8 weeks after surgery (mean period, 7.1 weeks; range, 4-8 weeks), which was quite early as compared with past reports. Endoscopic curettage and injection of bone substitute appears to be an excellent option for young athletes with symptomatic calcaneal bone cyst for early return

Successful treatment of childhood onset symptomatic dystonia with levodopa.

PubMed Central

Fletcher, N A; Thompson, P D; Scadding, J W; Marsden, C D

1993-01-01

Three patients with childhood onset symptomatic dystonia responded to levodopa. None fulfilled criteria for a diagnosis of "dopa responsive dystonia" (Segawa's disease). One may have had athetoid cerebral palsy for almost 25 years. All obtained dramatic and sustained benefit from levodopa therapy. A therapeutic trial of levodopa is advised in all patients in whom dystonia has developed in childhood or early adult life, regardless of suspected aetiology or duration of symptoms. PMID:8350101

Polycystic ovary syndrome and early-onset preeclampsia: reproductive manifestations of increased cardiovascular risk.

PubMed

Veltman-Verhulst, Susanne M; van Rijn, Bas B; Westerveld, H Egbertine; Franx, Arie; Bruinse, Hein W; Fauser, Bart C J M; Goverde, Angelique J

2010-01-01

Primary prevention of cardiovascular disease (CVD) in women is a major healthcare issue. Detection of premenopausal women with increased risk of CVD could enhance prevention strategies and reduce first event-related morbidity and mortality. In this study, we argue that an unfavorable metabolic constitution in women may present itself early in life as a reproductive complication, such as polycystic ovary syndrome (PCOS) and preeclampsia. We evaluated the cardiovascular risk of women with a history of early-onset preeclampsia and women with PCOS and assessed their need for implementation of early risk factor-reduction strategies. We performed a standardized evaluation of 240 women with a history of early-onset preeclampsia and 456 women diagnosed with PCOS for established major CVD risk factors. Metabolic syndrome characteristics were analyzed per body mass index category. Mean age was 30.6 and 29.0 years for women with preeclampsia and PCOS, respectively. High percentages of metabolic syndrome were found in both groups (preeclampsia group, 14.6%; and PCOS group, 18.4%), with an incidence of greater than 50% in both groups of women if body mass index was greater than 30 kg/m. Overall, more than 90% of the women qualified for either lifestyle or medical intervention according to the American Heart Association guideline for CVD prevention in women. Women with PCOS and early-onset preeclampsia already show an unfavorable cardiovascular risk profile with high need for lifestyle or medical intervention at a young age. We therefore recommend an active role of the gynecologist in routine screening and follow-up of women with reproductive conditions linked to future cardiovascular risk.

Family Factors in the Early Development of Children with Down Syndrome.

ERIC Educational Resources Information Center

Hooste, Ann Van; Maes, Bea

2003-01-01

This article provides an overview of important family and environmental factors that affect early development of infants and children with Down syndrome. It concludes that a moderately directive parenting style combined with sensitive, responsive, and reciprocal interactions, embedded in a general stimulating environment, are favorable to the…

Recurrent Miller Fisher syndrome.

PubMed

Madhavan, S; Geetha; Bhargavan, P V

2004-07-01

Miller Fisher syndrome (MFS) is a variant of Guillan Barre syndrome characterized by the triad of ophthalmoplegia, ataxia and areflexia. Recurrences are exceptional with Miller Fisher syndrome. We are reporting a case with two episodes of MFS within two years. Initially he presented with partial ophthalmoplegia, ataxia. Second episode was characterized by full-blown presentation characterized by ataxia, areflexia and ophthalmoplegia. CSF analysis was typical during both episodes. Nerve conduction velocity study was fairly within normal limits. MRI of brain was within normal limits. He responded to symptomatic measures initially, then to steroids in the second episode. We are reporting the case due to its rarity.

Placental histopathology lesions and pregnancy outcome in pregnancies complicated with symptomatic vs. non-symptomatic placenta previa.

PubMed

Weiner, Eran; Miremberg, Hadas; Grinstein, Ehud; Schreiber, Letizia; Ginath, Shimon; Bar, Jacob; Kovo, Michal

2016-10-01

The mechanisms involved in bleeding in cases of placenta previa (PP) and the effect on pregnancy outcome is unclear. We aimed to compare pregnancy outcome and placental histopathology in pregnancies complicated with symptomatic (bleeding) vs. non-symptomatic PP, and to study the effects of the co-existence of histopathological retro-placental hemorrhage (RPH) in cases of symptomatic PP on neonatal and maternal outcomes. Labor and maternal characteristics, neonatal outcome and placental histopathology lesions of pregnancies with PP, delivered between 24 and 42weeks, during 2009-2015, were reviewed. Results were compared between PP who had elective cesarean delivery (CD) (previa group) and PP with bleeding necessitating emergent CD (symptomatic previa group). Placental lesions were classified to lesions consistent with maternal malperfusion or fetal thrombo-occlusive disease (vascular and villous changes), and inflammatory lesions. Compared to the previa group (n=63), the symptomatic previa group (n=74) was characterized by older patients (p<0.001), higher rate of smokers (p=0.005), thrombophilia (p=0.038), and preterm deliveries (p<0.001). Placentas within the symptomatic previa group were smaller, with higher rates of weight<10th% (p=0.02), RPH (p<0.001) and villous changes related to maternal malperfusion (p=0.023). As compared to symptomatic PP without RPH, co-existence of RPH was associated with higher rate of adverse neonatal outcome (p<0.001) and maternal blood transfusion (p=0.02). On multivariate regression analysis, composite adverse neonatal outcome was found to be dependent on coexisting RPH (OR=2.8, 95%CI 1.2-11.7, p=0.03), and low gestational age (OR=3.1, 95%CI 1.6-4.9, p=0.02). Symptomatic placenta previa is associated with increased placental malperfusion lesions suggesting an association of maternal malperfusion with abnormal placental separation. The coexisting finding of RPH with symptomatic placenta previa can be seen as a marker for more

Contributing to the Early Detection of Rett Syndrome: The Potential Role of Auditory Gestalt Perception

ERIC Educational Resources Information Center

Marschik, Peter B.; Einspieler, Christa; Sigafoos, Jeff

2012-01-01

To assess whether there are qualitatively deviant characteristics in the early vocalizations of children with Rett syndrome, we had 400 native Austrian-German speakers listen to audio recordings of vocalizations from typically developing girls and girls with Rett syndrome. The audio recordings were rated as (a) inconspicuous, (b) conspicuous or…

Early Vocal Development in Autism Spectrum Disorder, Rett Syndrome, and Fragile X Syndrome: Insights from Studies using Retrospective Video Analysis.

PubMed

Roche, Laura; Zhang, Dajie; Bartl-Pokorny, Katrin D; Pokorny, Florian B; Schuller, Björn W; Esposito, Gianluca; Bölte, Sven; Roeyers, Herbert; Poustka, Luise; Gugatschka, Markus; Waddington, Hannah; Vollmann, Ralf; Einspieler, Christa; Marschik, Peter B

2018-03-01

This article provides an overview of studies assessing the early vocalisations of children with autism spectrum disorder (ASD), Rett syndrome (RTT), and fragile X syndrome (FXS) using retrospective video analysis (RVA) during the first two years of life. Electronic databases were systematically searched and a total of 23 studies were selected. These studies were then categorised according to whether children were later diagnosed with ASD (13 studies), RTT (8 studies), or FXS (2 studies), and then described in terms of (a) participant characteristics, (b) control group characteristics, (c) video footage, (d) behaviours analysed, and (e) main findings. This overview supports the use of RVA in analysing the early development of vocalisations in children later diagnosed with ASD, RTT or FXS, and provides an in-depth analysis of vocalisation presentation, complex vocalisation production, and the rate and/or frequency of vocalisation production across the three disorders. Implications are discussed in terms of extending crude vocal analyses to more precise methods that might provide more powerful means by which to discriminate between disorders during early development. A greater understanding of the early manifestation of these disorders may then lead to improvements in earlier detection.

Paget Schroetter Syndrome: A case study of the chiropractor's role in recognizing and comanaging an important condition.

PubMed

Rowan, Tracy L; Kazemi, Mohsen

2012-12-01

To emphasize the importance for health care professionals to be knowledgeable of a relatively rare form of thoracic outlet syndrome, known as Paget Schroetter syndrome. The etiology, key signs and symptoms, and the importance of immediate referral are highlighted and an introduction to manual therapists' role within a multidisciplinary team is provided. Healthy athletes aged 15-30 are most commonly affected with 60-80% of patients reporting a history of repetitive or vigorous overhead activity prior to symptom onset. Manual therapists have a role in recognizing, referring, and providing symptomatic relief with soft tissue therapy, correcting abnormal biomechanics, manipulations, mobilizations, and a rehabilitative program, as seen in this case report. Early recognition and referral of Paget Schroetter syndrome are essential for optimal recovery. Manual therapists may prove to have a role in decreasing the need for surgical decompression and accelerating resumption of regular activities.

[Early diagnosis and treatment of compartment syndrome caused by landslides:a report of 20 cases].

PubMed

Xie, Hong-Bo; Peng, Zi-Lai; Liu, Xu-Bang; Chen, Lian

2012-01-01

To summarize early diagnosis and treatment methods of 20 patients with compartment syndrome caused by landslides during coal mine accidents in order to improve the level of diagnosis and treatment of compartment syndrome and reduce disability. From September 2006 to April 2010,20 patients with compartment syndrome were treated with the methods of early decompression, systemic support. All the patients were male with an average age of 42 years (ranged, 23 to 54). All the patients with high tension limb swelling, pain, referred pain passive positive; 5 extremities feeling diminish or disappear and the distal blood vessel beat were normal or weakened or disappeared; myoglobinuria, hyperkalemia, serum urea nitrogen and creatinine increased in 5 cases and oliguria in occurred 1 case. The function of affected limbs was observed according to disability ratings. Three cases complicated with infection of affected limb and 6 cases occurred with renal function insufficiency. Total recovery was in 16 cases, basically recovery in 3, amputation in 1 case. All patients were followed up for 6-15 months with an average of 12 months. The ability to work according to national standard identification--Employee work-related injuries and occupational disability rating classification (GB/T16180-2006) to assess, grade 5 was in 1 case, grade 8 in 2 cases, grade 10 in 1 case, no grade in 16 cases. Arteriopalmus of dorsalis pedis weaken and vanished can not be regard as an evidence in early diagnosis of compartment syndrome. Early diagnosis and decompression, systemic support and treatment is the key in reducing disability.

Dosimetric Predictors of Symptomatic Cardiac Events after Conventional-Dose Chemoradiation Therapy for Inoperable Non-Small Cell Lung Cancer.

PubMed

Yegya-Raman, Nikhil; Wang, Kyle; Kim, Sinae; Reyhan, Meral; Deek, Matthew P; Sayan, Mutlay; Li, Diana; Patel, Malini; Malhotra, Jyoti; Aisner, Joseph; Marks, Lawrence B; Jabbour, Salma K

2018-06-05

We hypothesized that higher cardiac doses correlates with clinically significant cardiotoxicity after standard-dose chemoradiation therapy (CRT) (∼60 Gy) for inoperable non-small cell lung cancer (NSCLC). We retrospectively reviewed the records of 140 patients with inoperable NSCLC treated with concurrent CRT from 2007-2015. Extracted data included baseline cardiac status, dosimetric parameters to the whole heart (WH) and cardiac substructures, and the development of post-CRT symptomatic cardiac events (acute coronary syndrome [ACS], arrhythmia, pericardial effusion, pericarditis, and congestive heart failure [CHF]). Competing risks analysis was used to estimate time to cardiac events. Median follow-up was 47.4 months. Median radiation therapy dose was 61.2 Gy (interquartile range, 60-66 Gy). Forty patients (28.6%) developed 47 symptomatic cardiac events at a median of 15.3 months to first event. On multivariate analysis, higher WH doses and baseline cardiac status were associated with an increased risk of symptomatic cardiac events. The 4-year cumulative incidence of symptomatic cardiac events was 48.6% versus 18.5% for mean WH dose ≥ 20 Gy versus < 20 Gy, respectively (p = 0.0002). Doses to the WH, ventricles, and left anterior descending artery were associated with ACS/CHF, whereas doses to the WH and atria were not associated with supraventricular arrhythmias. Symptomatic cardiac events (p = 0.0001) were independently associated with death. Incidental cardiac irradiation was associated with subsequent symptomatic cardiac events, particularly ACS/CHF, and symptomatic cardiac events were associated with inferior survival. These results support the minimization of cardiac doses among patients with inoperable NSCLC receiving standard-dose CRT. Copyright © 2018 International Association for the Study of Lung Cancer. Published by Elsevier Inc. All rights reserved.

A Next Generation Sequencing custom gene panel as first line diagnostic tool for atypical cases of syndromic obesity: Application in a case of Alström syndrome.

PubMed

Maltese, Paolo E; Iarossi, Giancarlo; Ziccardi, Lucia; Colombo, Leonardo; Buzzonetti, Luca; Crinò, Antonino; Tezzele, Silvia; Bertelli, Matteo

2018-02-01

Obesity phenotype can be manifested as an isolated trait or accompanied by multisystem disorders as part of a syndromic picture. In both situations, same molecular pathways may be involved to different degrees. This evidence is stronger in syndromic obesity, in which phenotypes of different syndromes may overlap. In these cases, genetic testing can unequivocally provide a final diagnosis. Here we describe a patient who met the diagnostic criteria for Alström syndrome only during adolescence. Genetic testing was requested at 25 years of age for a final confirmation of the diagnosis. The genetic diagnosis of Alström syndrome was obtained through a Next Generation Sequencing genetic test approach using a custom-designed gene panel of 47 genes associated with syndromic and non-syndromic obesity. Genetic analysis revealed a novel homozygous frameshift variant p.(Arg1550Lysfs*10) on exon 8 of the ALMS1 gene. This case shows the need for a revision of the diagnostic criteria guidelines, as a consequence of the recent advent of massive parallel sequencing technology. Indications for genetic testing reported in these currently accepted diagnostic criteria for Alström syndrome, were drafted when sequencing was expensive and time consuming. Nowadays, Next Generation Sequencing testing could be considered as first line diagnostic tool not only for Alström syndrome but, more generally, for all those atypical or not clearly distinguishable cases of syndromic obesity, thus avoiding delayed diagnosis and treatments. Early diagnosis permits a better follow-up and pre-symptomatic interventions. Copyright © 2017 Elsevier Masson SAS. All rights reserved.

Angiogenesis inhibitors and symptomatic anal ulcers in metastatic colorectal cancer patients *.

PubMed

Bergamo, Francesca; Lonardi, Sara; Salmaso, Beatrice; Lacognata, Carmelo; Battaglin, Francesca; Cavallin, Francesco; Saadeh, Luca; Murgioni, Sabina; Caruso, Antonino; Aliberti, Camillo; Zagonel, Vittorina; Castoro, Carlo; Scarpa, Marco

2018-03-01

Angiogenesis inhibitors are a standard first-line treatment for metastatic colorectal cancer. Anal canal pain is a common adverse event, but its cause has never been described. The aim of the study was to evaluate the association between the use of angiogenesis inhibitors and symptomatic anal ulcer development. This retrospective cohort study included all 601 consecutive metastatic colorectal cancer patients undergoing first line treatment from January 2010 to June 2016 at the Veneto Institute of Oncology. Details about patient characteristics, treatment and proctology reports were retrieved and compared. Vascularization of the anal canal was evaluated with contrast MRI. Fifty out of 601 patients reported perianal complaints during treatment and underwent proctologic evaluation. Among those, 16 were found to have an anal ulcer. Symptomatic anal ulcers occurred only in patients receiving bevacizumab (4.2% vs. 0% with other regimens, p = .009). The peak incidence was 4-8 weeks after treatment start. Vascularization of anal canal was significantly lower in patients treated with bevacizumab (p = .03). Hypertension and hemorrhoids were associated with a lower risk of anal ulcer occurrence (p = .009 and p = .036). Pain intensity was severe. All attempts at symptomatic treatment only led to transient benefit. The absence of symptomatic ulcers was protective against earlier permanent discontinuation of treatment (HR = .22, 95%CI: 0.04-0.62). The development of symptomatic anal ulcers in patients receiving angiogenesis inhibitor is a common adverse event which can compromise the continuation of cancer therapy. We recommend an early proctologic evaluation in case of anal symptoms with the aim to prevent and timely manage such complication.

Early spinal cord and brainstem involvement in infantile Leigh syndrome possibly caused by a novel variant.

PubMed

Tenney, Jeffrey R; Prada, Carlos E; Hopkin, Robert J; Hallinan, Barbara E

2013-12-01

Leigh syndrome, due to a dysfunction of mitochondrial energy metabolism, is a genetically heterogeneous and progressive neurologic disorder that usually occurs in infancy and childhood. Its clinical presentation and neuroimaging findings can be variable, especially early in the course of the disease. This report presents a patient with infantile Leigh syndrome who had atypical radiologic findings on serial neuroimaging studies with early and severe involvement of the cervical spinal cord and brainstem and injury to the thalami and basal ganglia occurring only late in the clinical course. Postmortem microscopic examination supported this timing of injury within the central nervous system. In addition, mitochondrial deoxyribonucleic acid sequencing showed a novel homoplasmic variant that could be responsible for this unique lethal form of Leigh syndrome.

Fragile X Syndrome. Early Developments. Volume 8, Number 2, Summer 2004

ERIC Educational Resources Information Center

Manuel, John

2004-01-01

Eleven years ago, FPG Child Development Institute (FPG) launched a longitudinal study of a little known form of mental retardation known as fragile X syndrome (FXS). The Carolina Fragile X Project has since grown into a multidisciplinary team studying diverse aspects of the condition, ranging from early identification to school performance. The…

Effect of early statin therapy after acute coronary syndromes: a concise review of the recent data.

PubMed

Bybee, Kevin A; Wright, R Scott; Kopecky, Stephen L

2002-01-01

HMG Co-A reductase inhibitors(statins) have been shown, in three large randomized trials, to decrease adverse cardiac events in patients with clinically evident coronary artery disease. All of these trials have excluded patients with an acute coronary syndrome within the three months prior to enrollment. Statin therapy is thought to stabilize coronary plaque and decrease the risk of plaque rupture. Statins have been shown to quickly reduce levels of LDL-C in addition to altering systemic inflammatory responses, improving endothelial function, and reducing platelet aggregation and activation. These mechanisms are potentially beneficial in the setting of acute coronary syndromes, a time of profound plaque instability. There is a growing body of evidence supporting the early initiation of statin therapy in the setting of acute coronary syndromes. This paper reviews the available data from randomized-controlled trials and observational studies evaluating the effect of early statin initiation during, or soon following, an acute coronary syndrome.

Symptomatic versus inapparent outcome in repeat dengue virus infections is influenced by the time interval between infections and study year.

PubMed

Montoya, Magelda; Gresh, Lionel; Mercado, Juan Carlos; Williams, Katherine L; Vargas, Maria José; Gutierrez, Gamaliel; Kuan, Guillermina; Gordon, Aubree; Balmaseda, Angel; Harris, Eva

2013-01-01

Four dengue virus serotypes (DENV1-4) circulate globally, causing more human illness than any other arthropod-borne virus. Dengue can present as a range of clinical manifestations from undifferentiated fever to Dengue Fever to severe, life-threatening syndromes. However, most DENV infections are inapparent. Yet, little is known about determinants of inapparent versus symptomatic DENV infection outcome. Here, we analyzed over 2,000 DENV infections from 2004 to 2011 in a prospective pediatric cohort study in Managua, Nicaragua. Symptomatic cases were captured at the study health center, and paired healthy annual samples were examined on a yearly basis using serological methods to identify inapparent DENV infections. Overall, inapparent and symptomatic DENV infections were equally distributed by sex. The mean age of infection was 1.2 years higher for symptomatic DENV infections as compared to inapparent infections. Although inapparent versus symptomatic outcome did not differ by infection number (first, second or third/post-second DENV infections), substantial variation in the proportion of symptomatic DENV infections among all DENV infections was observed across study years. In participants with repeat DENV infections, the time interval between a first inapparent DENV infection and a second inapparent infection was significantly shorter than the interval between a first inapparent and a second symptomatic infection. This difference was not observed in subsequent infections. This result was confirmed using two different serological techniques that measure total anti-DENV antibodies and serotype-specific neutralizing antibodies, respectively. Taken together, these findings show that, in this study, age, study year and time interval between consecutive DENV infections influence inapparent versus symptomatic infection outcome, while sex and infection number had no significant effect. Moreover, these results suggest that the window of cross-protection induced by a first

Symptomatic efficacy of rasagiline monotherapy in early Parkinson's disease: post-hoc analyses from the ADAGIO trial.

PubMed

Jankovic, Joseph; Berkovich, Elijahu; Eyal, Eli; Tolosa, Eduardo

2014-06-01

The ADAGIO study included a large cohort of patients with early PD (baseline total-UPDRS = 20) who were initially randomized to rasagiline and placebo, thereby allowing analyses of symptomatic efficacy. Post-hoc analyses comparing the efficacy of rasagiline 1 mg/day (n = 288) versus placebo (n = 588) on key symptoms at 36 weeks, and on total-UPDRS scores over 72 weeks (completer population: rasagiline 1 mg/day n = 221, placebo n = 392) were performed. Treatment with rasagiline resulted in significantly better tremor, bradykinesia, rigidity and postural-instability-gait-difficulty scores at week 36 versus placebo. Whereas the placebo group experienced progressive deterioration from baseline (2.6 UPDRS points at week 36), patients in the rasagiline group were maintained at baseline values at week 60 (UPDRS-change of 0.3 points). At week 72, patients who had received continuous monotherapy with rasagiline experienced a worsening of only 1.6 points. Treatment with rasagiline maintained motor function to baseline values for at least a year with significant benefits observed in all key PD motor symptoms. Copyright © 2014 Elsevier Ltd. All rights reserved.

Genetic and cytokine changes associated with symptomatic stages of CLL.

PubMed

Agarwal, Amit; Cooke, Lawrence; Riley, Christopher; Qi, Wenqing; Mount, David; Mahadevan, Daruka

2014-09-01

The pathogenesis and drug resistance of symptomatic CLL patients involves genetic changes associated with the CLL clone as well as changes within the microenvironment. To further understand these processes, we compared early stage CLL to symptomatic late stage using gene expression and serum cytokine profiling to gain insight of the genetic and microenvironment changes associated with the most severe form of the disease. Patients were classified into low stage (Rai stage 0/I/II) and high stage (Rai stage III/IV). Gene expression profiles were obtained on pretreatment samples using the HG-U133A 2.0 Affymetrix platform. A comparison of low versus high stage CLL revealed a set of 21 genes differentially expressed genes. 15 genes were up regulated in the high stage compared to low stage while 6 genes were down regulated. Analysis of GO molecular function revealed 9 of 21 genes were involved in transcription factor activity. Serum cytokine profiles showed six cytokines to be significantly different in high stage patients. Two chemokines, SDF-1/CXCL12 and uPAR known to be involved in stem cell mobilization and homing were increased in serum of high stage patients. This study has identified therapeutic targets for symptomatic CLL patients. Copyright © 2014 Elsevier Ltd. All rights reserved.

Genetic Diversity among Group A Streptococcus Isolated from Throats of Healthy and Symptomatic Children

PubMed Central

Kashyap, Nitin; Kanga, Anil; Thakur, Kamlesh; Sood, Anuradha; Chandel, Lata

2016-01-01

Background: Group A streptococcus (GAS) is the commonest bacterial cause of pharyngitis. Children in the age group of 5–15 years are most commonly affected. It can also colonize throats of healthy children in this age group. Both cases and carriers can transmit it in the community. Methods: Throat swab samples were collected from 1849 asymptomatic and 371 symptomatic children. Results: The rate of isolation of GAS was 1.41% among the asymptomatic group and 7.55% among the symptomatic group. Nine different emm types were encountered in the asymptomatic children and 14 among the symptomatic children. Conclusion: Throat swab cultures must be used in all cases of pharyngitis. Early and appropriate antibiotic therapy will prevent complications. Asymptomatic throat carriage of GAS in children was low in our study. However, they can still act as reservoirs. Emm typing helps in understanding epidemiology and finding new types. PMID:26743337

Early detection for cases of enterovirus- and influenza-like illness through a newly established school-based syndromic surveillance system in Taipei, January 2010 ~ August 2011.

PubMed

Weng, Ting Chia; Chan, Ta Chien; Lin, Hsien Tang; Chang, Chia Kun Jasper; Wang, Wen Wen; Li, Zheng Rong Tiger; Cheng, Hao-Yuan; Chu, Yu-Roo; Chiu, Allen Wen-Hsiang; Yen, Muh-Yong; King, Chwan-Chuen

2015-01-01

School children may transmit pathogens with cluster cases occurring on campuses and in families. In response to the 2009 influenza A (H1N1) pandemic, Taipei City Government officials developed a School-based Infectious Disease Syndromic Surveillance System (SID-SSS). Teachers and nurses from preschools to universities in all 12 districts within Taipei are required to daily report cases of symptomatic children or sick leave requests through the SID-SSS. The pre-diagnosis at schools is submitted firstly as common pediatric disease syndrome-groups and re-submitted after confirmation by physicians. We retrieved these data from January 2010 to August 2011 for spatio-temporal analysis and evaluated the temporal trends with cases obtained from both the Emergency Department-based Syndromic Surveillance System (ED-SSS) and the Longitudinal Health Insurance Database 2005 (LHID2005). Through the SID-SSS, enterovirus-like illness (EVI) and influenza-like illness (ILI) were the two most reported syndrome groups (77.6% and 15.8% among a total of 19,334 cases, respectively). The pre-diagnosis judgments made by school teachers and nurses showed high consistency with physicians' clinical diagnoses for EVI (97.8%) and ILI (98.9%). Most importantly, the SID-SSS had better timeliness with earlier peaks of EVI and ILI than those in the ED-SSS. Furthermore, both of the syndrome groups in these two surveillance systems had the best correlation reaching 0.98 and 0.95, respectively (p<0.01). Spatio-temporal analysis observed the patterns of EVI and ILI both diffuse from the northern suburban districts to central Taipei, with ILI spreading faster. This novel system can identify early suspected cases of two important pediatric infections occurring at schools, and clusters from schools/families. It was also cost-effective (95.5% of the operation cost reduced and 59.7% processing time saved). The timely surveillance of mild EVI and ILI cases integrated with spatial analysis may help public

Early Detection for Cases of Enterovirus- and Influenza-Like Illness through a Newly Established School-Based Syndromic Surveillance System in Taipei, January 2010 ~ August 2011

PubMed Central

Weng, Ting Chia; Chan, Ta Chien; Li, Zheng Rong Tiger; Cheng, Hao-Yuan; Chu, Yu-Roo; Chiu, Allen Wen-Hsiang; Yen, Muh-Yong; King, Chwan-Chuen

2015-01-01

School children may transmit pathogens with cluster cases occurring on campuses and in families. In response to the 2009 influenza A (H1N1) pandemic, Taipei City Government officials developed a School-based Infectious Disease Syndromic Surveillance System (SID-SSS). Teachers and nurses from preschools to universities in all 12 districts within Taipei are required to daily report cases of symptomatic children or sick leave requests through the SID-SSS. The pre-diagnosis at schools is submitted firstly as common pediatric disease syndrome-groups and re-submitted after confirmation by physicians. We retrieved these data from January 2010 to August 2011 for spatio-temporal analysis and evaluated the temporal trends with cases obtained from both the Emergency Department-based Syndromic Surveillance System (ED-SSS) and the Longitudinal Health Insurance Database 2005 (LHID2005). Through the SID-SSS, enterovirus-like illness (EVI) and influenza-like illness (ILI) were the two most reported syndrome groups (77.6% and 15.8% among a total of 19,334 cases, respectively). The pre-diagnosis judgments made by school teachers and nurses showed high consistency with physicians’ clinical diagnoses for EVI (97.8%) and ILI (98.9%). Most importantly, the SID-SSS had better timeliness with earlier peaks of EVI and ILI than those in the ED-SSS. Furthermore, both of the syndrome groups in these two surveillance systems had the best correlation reaching 0.98 and 0.95, respectively (p<0.01). Spatio-temporal analysis observed the patterns of EVI and ILI both diffuse from the northern suburban districts to central Taipei, with ILI spreading faster. This novel system can identify early suspected cases of two important pediatric infections occurring at schools, and clusters from schools/families. It was also cost-effective (95.5% of the operation cost reduced and 59.7% processing time saved). The timely surveillance of mild EVI and ILI cases integrated with spatial analysis may help public

Eagle syndrome surgical treatment with piezosurgery.

PubMed

Bertossi, Dario; Albanese, Massimo; Chiarini, Luigi; Corega, Claudia; Mortellaro, Carmen; Nocini, Pierfrancesco

2014-05-01

Eagle syndrome (ES) is an uncommon complication of styloid process elongation with stylohyoideal complex symptomatic calcification. It is an uncommon condition (4% of the population) that is symptomatic in only 4% of the cases. Eagle syndrome is usually an acquired condition that can be related to tonsillectomy or to a neck trauma. A type of ES is the styloid-carotid syndrome, a consequence of the irritation of pericarotid sympathetic fibers and compression on the carotid artery. Clinical manifestations are found most frequently after head turning and neck compression. Although conservative treatment (analgesics, anticonvulsants, antidepressants, local infiltration with steroids, or anesthetic agents) have been used, surgical treatment is often the only effective treatment in symptomatic cases. We present the case of a 55-year-old patient, successfully treated under endotracheal anesthesia. The cranial portion of the calcified styloid process was shortened through an external approach, using a piezoelectric cutting device (Piezosurgery Medical II; Mectron Medical Technology, Carasco, Italy) with MT1-10 insert, pump level 4, vibration level 7. No major postoperative complications such as nerve damage, hematoma, or wound dehiscence occurred. After 6 months, the patient was completely recovered. Two years after the surgery, the patient did not refer any symptoms related to ES. The transcervical surgical approach in patients with ES seems to be safe and effective, despite the remarkable risk for transient marginal mandibular nerve palsy. This risk can be decreased by the use of the piezoelectric device for its distinctive characteristics--such as precision, selective cut action, and bloodless cut.

The Rare Painful Phenomena - Chronic Paroxysmal Hemicrania-tic Syndrome as a Clinically Isolated Syndrome of the Central Nervous System.

PubMed

Ljubisavljevic, Srdjan; Prazic, Ana; Lazarevic, Miodrag; Stojanov, Dragan; Savic, Dejan; Vojinovic, Slobadan

2017-02-01

The association of paroxysmal hemicrania with trigeminal neuralgia (TN) has been described and called paroxysmal hemicrania-tic syndrome (PH-tic). We report the case of a patient diagnosed as having chronic PH-tic (CPH-tic) syndrome as a clinically isolated syndrome of the central nervous system (CNS) (CIS).A forty year old woman was admitted to our hospital suffering from right facial pain for the last 2 years. The attacks were paroxysmal, neuralgiform, consisting of throb-like sensations, which developed spontaneously or were triggered by different stimuli in right facial (maxilar and mandibular) areas. Parallel with those, she felt a throbbing orbital and frontal pain with homolateral autonomic symptoms such as conjunctival injection, lacrimation, and the feeling that the ear on the same side was full. This pain lasted most often between 15 and 20 minutes. Beyond hemifacial hypoesthesia in the region of right maxilar and mandibular nerve, the other neurological finding was normal. Magnetic resonance imaging (MRI) study showed a T2-weighted multiple hyperintense paraventricular lesion and hyperintense lesion in the right trigeminal main sensory nucleus and root inlet, all of them being hypointense on T1-weighted image. All of these lesions were hypointense in gadolinium-enhanced T1-weighted images. Neurophysiological studies of trigeminal nerve (somatosensory evoked potentials and blink reflex) correlated with MRI described lesions. The patient's pain bouts were improved immediately after treatment with indomethacin, and were completely relieved with lamotrigine for a longer period. According to the actual McDonald's criteria, clinical state was defined as CIS which was clinically presented by CPH-tic syndrome.Even though it is a clinical rarity and its etiology is usually idiopathic, CPH-tic syndrome can also be symptomatic. When dealing with symptomatic cases, like the one described here, when causal therapy is not possible due to the nature of the primary

Quality of life and symptomatic response to gastric neurostimulation for gastroparesis.

PubMed

Velanovich, Vic

2008-10-01

Gastroparesis can be a difficult problem with patients suffering from nausea, vomiting, bloating, and pain intractable to medical management. Gastric neurostimulation has been developed as an adjunctive treatment for patients with diabetic and idiopathic gastroparesis unresponsive to pharmacologic and dietary treatment. The purpose of this study is to report symptomatic and quality-of-life response to gastric neurostimulation. This study was approved by the institutional review board, and patients had informed consent. The gastric neurostimulation device (Enterra therapy, Medtronic, Inc., Minneapolis, MN, USA) is approved by the Food and Drug Administration under the Humanitarian Device Exemption. Candidates for placement were patients with either idiopathic or diabetic gastroparesis who had symptomatic failure to dietary changes and to prokinetic and antiemetic drugs. Before placement, the patients' symptoms were recorded, and patients completed the Gastrointestinal Symptom Rating Scale (GSRS, three domains: dyspeptic syndrome, indigestion syndrome, and bowel dysfunction syndrome) and the Short Form-36 (SF-36, eight domains: physical functioning, role-physical, role-emotional, bodily pain, vitality, mental health, social functioning, general health, plus a health transition item). The device was surgically placed using a hybrid laparoscopic/open technique. Patients were followed and adjustments made on the device until satisfactory symptom control was achieved. At that time, patients completed both the GSRS and SF-36, and comparisons were made to preoperative values. Forty-two patients had the device placed, 29 women, aged 41 (SD +14) years, 24 diabetic patients, 17 idiopathic patients, one postgastrectomy patient. Median follow-up was 12 months (range 1-42 months). There was a 2% immediate postoperative morbidity rate and 7% long-term morbidity rate (device extrusion). Thirty-one patients (74%) responded to gastric neurostimulation of variable degrees. Eleven

Gitelman syndrome manifesting in early childhood and leading to delayed puberty: a case report.

PubMed

Raza, Farhan; Sultan, Mubashar; Qamar, Khola; Jawad, Ali; Jawa, Ali

2012-10-02

Gitelman syndrome is an inherited autosomal recessive renal salt-wasting disorder. It presents with variable clinical symptoms including muscle weakness and fatigue, and the diagnosis is based on metabolic alkalosis, hypokalemia, hypomagnesemia and hypocalciuria. It is usually diagnosed incidentally in early adulthood. There are rare cases of Gitelman syndrome presenting in early childhood; however, to the best of our knowledge it has not previously been associated with delayed puberty. A 17-year-old South Asian man with recurrent episodes of generalized muscle weakness, fatigue and cramps from the age of two years was admitted for further workup. Before the age of 12 years, the episodes had been mild, but they then got progressively worse. Other symptoms include polyuria, polydipsia, nocturia, paresthesia and occasional watery diarrhea. He also had a history of short stature, poor weight gain and delayed developmental landmarks. His family history was unremarkable except for the consanguineous marriage of his parents. An examination revealed a thin and lean man with blood pressure of 95/60mmHg. His height and weight were below the third percentile and his sexual development was at Tanner Stage II. Laboratory work revealed serum sodium of 124mmol/L, potassium 2.4mmol/L, calcium 6.5mmol/L and magnesium of 1.2mg/dL. His testosterone level was low (0.85ng/mL, normal for his age 2.67 to 10.12ng/mL) with normal levels of luteinizing hormone and follicle-stimulating hormone. The sex hormone findings were attributed to delayed puberty. A 24-hour urinary analysis revealed decreased excretion of calcium (25.9mg/24 hours). Based on the findings of hypokalemic metabolic alkalosis without hypertension, severe hypomagnesemia and hypocalciuria, a diagnosis of Gitelman syndrome was made. Treatment was started with oral supplementation of potassium, magnesium and calcium along with spironolactone and liberal salt intake. Diagnosis of Gitelman syndrome is usually made incidentally

Early prenatal diagnosis of a lumbo-costo-vertebral syndrome.

PubMed

Pristavu, Anda Ioana; Furnica, Cristina; Ifrim, Mona Mihaela; Popovici, Razvan Mihai

2018-04-01

Lumbo-costo-vertebral syndrome (LCVS) is a rare type of lumbar hernia with associated abnormalities of the vertebral bodies, ribs, and trunk muscles. Only a few cases have been reported in the literature, all of which were diagnosed after birth. We present a case of LCVS diagnosed early in the second trimester of pregnancy using two- and three-dimensional ultrasound. In our case, the associated anomalies were: multiple costovertebral anomalies, lumbar hernia, anal imperforation, left hand supernumerary digit, and clubfoot.

Symptomatic Remission and Counterfactual Reasoning in Schizophrenia.

PubMed

Albacete, Auria; Contreras, Fernando; Bosque, Clara; Gilabert, Ester; Albiach, Ángela; Menchón, José M

2016-01-01

Counterfactual thinking (CFT) is a type of conditional reasoning involving mental representations of alternatives to past factual events that previous preliminary research has suggested to be impaired in schizophrenia. However, despite the potential impact of these deficits on the functional outcome of these patients, studies examining the role of CFT in this disorder are still few in number. The present study aimed to extent previous results by evaluating CFT in the largest sample to date of schizophrenia patients in symptomatic remission and healthy controls. The relationship with symptomatology, illness duration, and sociodemographic characteristics was also explored. Methods: Seventy-eight schizophrenia patients and 84 healthy controls completed a series of tests that examined the generation of counterfactual thoughts, the influence of the "causal order effect," and the ability to counterfactually derive inferences by using de Counterfactual Inference Test. Results: Compared with controls, patients generated fewer counterfactual thoughts when faced with a simulated scenario. This deficit was negatively related to scores on all dimensions of the Positive and Negative Syndrome Scale-PANNS, as well as to longer illness duration. The results also showed that schizophrenia patients deviated significantly from the normative pattern when generating inferences from CFT. Conclusions: These findings reveal CFT impairment to be present in schizophrenia even when patients are in symptomatic remission. However, symptomatology and illness duration may have a negative influence on these patients' ability to generate counterfactual thoughts. The results might support the relevance of targeting CFT in future treatment approaches, although further research is needed to better describe the relationship between CFT and both symptomatology and functional outcome.

Symptomatic subsyndromal depression in hospitalized hypertensive patients.

PubMed

Chiaie, Roberto Delle; Iannucci, Gino; Paroli, Marino; Salviati, Massimo; Caredda, Maria; Pasquini, Massimo; Biondi, Massimo

2011-12-01

Clinicians generally agree on the association between depression and hypertension. Less clear is if the nature of the link is direct or indirect and if this should be considered confined only to syndromal forms or if it concerns also subsyndromal affective presentations. This study investigated the nature of the association between hypertension and subsyndromal depression in hospitalized hypertensive patients. 196 hypertensive and 96 non hypertensive inpatients underwent a SCID interview, to exclude patients positive for any Axis I or Axis II diagnosis. Symptomatic Subsyndromal Depression (SSD) was identified according to criteria proposed by Judd. Psychopathological assessment was performed with Anxiety Sensitivity Index (ASI) and Hopkins Symptom Checklist-90 (SCL-90). Clinical assessments included blood pressure measurement, evaluation of general health conditions and screening cardiovascular risk factors (smoke, alcohol, body weight, sedentary life style). Hypertensives met more frequently criteria for SSD. They also scored higher on ASI and SCL-90. However, those with more severe physical conditions, if compared with more healthy patients, did not show increased psychopathological severity. Similarly, psychopathological symptom severity did not differ among hypertensives positive for other cardiovascular risk factors, commonly more frequent among depressed subjects. Further analyses are needed to explore the potential advantage obtained on blood pressure control by treating SSD. Hospitalized hypertensives, more frequently satisfied criteria for Symptomatic Subsyndromal Depression. These milder affective forms are probably directly linked to the presence of hypertension, rather than being indirectly associated to physical impairment or to higher prevalence of other cardiovascular risk factors. Copyright © 2011. Published by Elsevier B.V.

Barriers to early diagnosis of symptomatic breast cancer: a qualitative study of Black African, Black Caribbean and White British women living in the UK.

PubMed

Jones, Claire E L; Maben, Jill; Lucas, Grace; Davies, Elizabeth A; Jack, Ruth H; Ream, Emma

2015-03-13

Understanding barriers to early diagnosis of symptomatic breast cancer among Black African, Black Caribbean and White British women in the UK. In-depth qualitative interviews using grounded theory methods to identify themes. Findings validated through focus groups. 94 women aged 33-91 years; 20 Black African, 20 Black Caribbean and 20 White British women diagnosed with symptomatic breast cancer were interviewed. Fourteen Black African and 20 Black Caribbean women with (n=19) and without (n=15) breast cancer participated in six focus groups. Eight cancer centres/hospital trusts in London (n=5), Somerset (n=1), West Midlands (n=1) and Greater Manchester (n=1) during 2012-2013. There are important differences and similarities in barriers to early diagnosis of breast cancer between Black African, Black Caribbean and White British women in the UK. Differences were influenced by country of birth, time spent in UK and age. First generation Black African women experienced most barriers and longest delays. Second generation Black Caribbean and White British women were similar and experienced fewest barriers. Absence of pain was a barrier for Black African and Black Caribbean women. Older White British women (≥70 years) and first generation Black African and Black Caribbean women shared conservative attitudes and taboos about breast awareness. All women viewed themselves at low risk of the disease, and voiced uncertainty over breast awareness and appraising non-lump symptoms. Focus group findings validated and expanded themes identified in interviews. Findings challenged reporting of Black women homogenously in breast cancer research. This can mask distinctions within and between ethnic groups. Current media and health promotion messages need reframing to promote early presentation with breast symptoms. Working with communities and developing culturally appropriate materials may lessen taboos and stigma, raise awareness, increase discussion of breast cancer and promote

Barriers to early diagnosis of symptomatic breast cancer: a qualitative study of Black African, Black Caribbean and White British women living in the UK

PubMed Central

Jones, Claire E L; Maben, Jill; Lucas, Grace; Davies, Elizabeth A; Jack, Ruth H; Ream, Emma

2015-01-01

Objectives Understanding barriers to early diagnosis of symptomatic breast cancer among Black African, Black Caribbean and White British women in the UK. Design In-depth qualitative interviews using grounded theory methods to identify themes. Findings validated through focus groups. Participants 94 women aged 33–91 years; 20 Black African, 20 Black Caribbean and 20 White British women diagnosed with symptomatic breast cancer were interviewed. Fourteen Black African and 20 Black Caribbean women with (n=19) and without (n=15) breast cancer participated in six focus groups. Setting Eight cancer centres/hospital trusts in London (n=5), Somerset (n=1), West Midlands (n=1) and Greater Manchester (n=1) during 2012–2013. Results There are important differences and similarities in barriers to early diagnosis of breast cancer between Black African, Black Caribbean and White British women in the UK. Differences were influenced by country of birth, time spent in UK and age. First generation Black African women experienced most barriers and longest delays. Second generation Black Caribbean and White British women were similar and experienced fewest barriers. Absence of pain was a barrier for Black African and Black Caribbean women. Older White British women (≥70 years) and first generation Black African and Black Caribbean women shared conservative attitudes and taboos about breast awareness. All women viewed themselves at low risk of the disease, and voiced uncertainty over breast awareness and appraising non-lump symptoms. Focus group findings validated and expanded themes identified in interviews. Conclusions Findings challenged reporting of Black women homogenously in breast cancer research. This can mask distinctions within and between ethnic groups. Current media and health promotion messages need reframing to promote early presentation with breast symptoms. Working with communities and developing culturally appropriate materials may lessen taboos and stigma

Factors Associated with Symptomatic Vulvovaginal Candidiasis: A Study among Women Attending a Primary Healthcare Clinic in Kwazulu-Natal, South Africa

PubMed Central

Apalata, T; Longo-Mbenza, B; Sturm, AW; Carr, WH; Moodley, P

2014-01-01

-infected women (P < 0.01). Conclusion: Although symptomatic VVC is not classified as acquired immunodeficiency syndrome-related condition, HIV-related immune compromised women and particularly those who are anti-retroviral therapy-naïve are likely to develop symptomatic VVC. PMID:24971218

Association between the severity of symptomatic knee osteoarthritis and cumulative metabolic factors.

PubMed

Yasuda, Emi; Nakamura, Ryuichi; Matsugi, Ryo; Goto, Shinsuke; Ikenaga, Yasunori; Kuroda, Kazunari; Nakamura, Syunsuke; Katsuki, Yasuo; Katsuki, Tatsuo

2018-05-01

The association between cumulative metabolic syndrome (MS) factors and knee osteoarthritis (KOA) has been highlighted over the past two decades. To clarify the relationship between cumulative MS factors and symptomatic KOA. A cross-sectional survey involving 119 women aged 45-88 years who were scheduled to undergo knee surgery was conducted. They were stratified into tertiles of symptoms as assessed by the Japanese Orthopedic Association score for KOA. Multinomial logistic regressions were performed using the severity of symptomatic KOA as the dependent variable and each MS factor or the cumulative MS factors as the independent variables. Logistic regression analyses were performed with the upper tertile of stratified symptoms of subjects used as the reference group. After adjustment for confounders, KOA patients who had two (p = 0.004) or three or more (p < 0.0001) MS factors were significantly more likely to have severe symptoms compared to those who had no MS factors. MS factors excluding obesity were similarly analyzed. Even after additional adjustment for body mass index (BMI), KOA patients who had two or more (p = 0.005) MS factors were significantly more likely to have severe symptoms. Among KOA female patients diagnosed using radiographic definition, the severity of symptomatic KOA was significantly associated with hypertension, dyslipidemia, and the number of MS factors after adjustment for age, BMI, strength of the knee extensor, and Kellgren-Lawrence grade. The severity of radiographic KOA was not associated with any MS factor or cumulative MS factors.

Genetic Diversity among Group A Streptococcus Isolated from Throats of Healthy and Symptomatic Children.

PubMed

Chauhan, Smriti; Kashyap, Nitin; Kanga, Anil; Thakur, Kamlesh; Sood, Anuradha; Chandel, Lata

2016-04-01

Group A streptococcus (GAS) is the commonest bacterial cause of pharyngitis. Children in the age group of 5-15 years are most commonly affected. It can also colonize throats of healthy children in this age group. Both cases and carriers can transmit it in the community. Throat swab samples were collected from 1849 asymptomatic and 371 symptomatic children. The rate of isolation of GAS was 1.41% among the asymptomatic group and 7.55% among the symptomatic group. Nine different emm types were encountered in the asymptomatic children and 14 among the symptomatic children. Throat swab cultures must be used in all cases of pharyngitis. Early and appropriate antibiotic therapy will prevent complications. Asymptomatic throat carriage of GAS in children was low in our study. However, they can still act as reservoirs. Emm typing helps in understanding epidemiology and finding new types. © The Author [2016]. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

Symptomatic Cushing's syndrome and hyperandrogenemia in a steroid cell ovarian neoplasm: a case report.

PubMed

Sedhom, Ramy; Hu, Sophia; Ohri, Anupam; Infantino, Dorian; Lubitz, Sara

2016-10-12

Malignant steroid cell tumors of the ovary are rare and frequently associated with hormonal abnormalities. There are no guidelines on how to treat rapidly progressive Cushing's syndrome, a medical emergency. A 67-year-old white woman presented to our hospital with rapidly developing signs and symptoms of Cushing's syndrome secondary to a steroid-secreting tumor. Her physical and biochemical manifestations of Cushing's syndrome progressed, and she was not amenable to undergoing conventional chemotherapy secondary to the debilitating effects of high cortisol. Her rapidly progressive Cushing's syndrome ultimately led to her death, despite aggressive medical management with spironolactone, ketoconazole, mitotane, and mifepristone. We report an unusual and rare case of Cushing's syndrome secondary to a malignant steroid cell tumor of the ovary. The case is highlighted to discuss the complications of rapidly progressive Cushing's syndrome, an underreported and often unrecognized endocrine emergency, and the best available evidence for treatment.

Cyclical vomiting syndrome secondary to a Chiari I malformation-a case report.

PubMed

White, William L; Bagga, Veejay; Campbell, David I; Hart, Anthony R; Ushewokunze, Shungu

2017-12-01

Cyclical vomiting syndrome is a disorder characterised by recurrent episodes of profuse vomiting. There are no cases in the literature on the management of children with presenting with cyclical vomiting syndrome and a Chiari malformation type I. We report the case of a 12-year-old child diagnosed with cyclical vomiting syndrome and a Chiari malformation type I. The patient received symptomatic relief following a craniocervical decompression.

[Symptomatic remission and its relationship to social functioning in Tunisian out-patients with schizophrenia].

PubMed

El Gharbi, I; Chhoumi, M; Mechri, A

2017-11-28

The concept of symptomatic and functional remission represents an important challenge in the care of the mentally ill, particularly in patients with schizophrenia. Operational criteria for symptomatic remission in schizophrenia have been proposed by Andreasen et al. (2005). Over the last decade, these criteria have been widely validated; however few studies have been conducted outside developed countries. Moreover, the association of symptomatic remission with functional outcome has not yet been established in developing countries including Tunisia, as there may be variability in the social and familial environment. To determine the frequency and associated factors of symptomatic remission in a sample of Tunisian out-patients with schizophrenia and to explore the relationship between symptomatic remission and some indicators of social functioning. A cross-sectional study was carried-out on 115 out-patients with schizophrenia (87 males, 28 females, mean age=37.56±10.2 years) in the psychiatry department of the university hospital in Monastir (Tunisia). Nearly all of the patients (98.26%) had been hospitalized at least once in a psychiatric unit. The last hospitalization dated back to 39 months on average (range=6 months to 16 years). Symptomatic remission was assessed by the eight core items of the positive and negative syndrome scale (PANSS). These are the items P1 "Delusions"; P3 "Hallucinatory behavior" and G9 "Unusual thought content" for the positive dimension, the items P2 "Conceptual disorganization" and G5 "Mannerism and disorders of posture" for the disorganization dimension and the items N1 "Blunted affect", N4 "Social withdrawal" and N6 "Lack of spontaneity and flow of conversation" for the negative dimension. A score of mild or less on all eight-core symptoms constitutes symptomatic remission. This symptom level should have been maintained for six months. The social functioning was assessed by the Social and Occupational Functioning Assessment Scale

Teaching Children with down Syndrome in the Early Years of School

ERIC Educational Resources Information Center

McFadden, Amanda; Tangen, Donna; Spooner-Lane, Rebecca; Mergler, Amanda

2017-01-01

We explored 3 general classroom teachers' experiences of including a child with Down syndrome in their early years classrooms. Located at 3 different Australian school settings, 1 teacher was the head of a Preparatory class, 1 was a Year 3 teacher, and the third was a teacher of a split Preparatory/Year 1 class. Interview data were drawn from a…

Terahertz imaging for early screening of diabetic foot syndrome: A proof of concept

NASA Astrophysics Data System (ADS)

Hernandez-Cardoso, G. G.; Rojas-Landeros, S. C.; Alfaro-Gomez, M.; Hernandez-Serrano, A. I.; Salas-Gutierrez, I.; Lemus-Bedolla, E.; Castillo-Guzman, A. R.; Lopez-Lemus, H. L.; Castro-Camus, E.

2017-02-01

Most people with diabetes suffer some deterioration of the feet. Diabetic foot syndrome causes ulceration in about 15% of cases and such deterioration leads to amputation in about 2.5% of diabetic patients, diminishing their quality of life and generating extraordinary costs for patients and public health systems. Currently, there is no objective method for the detection of diabetic foot syndrome in its early stages. We propose terahertz imaging as a method for the evaluation of such deterioration. This screening method could aid the prevention and medical treatment of this condition in the future.

Autism Treatment in the First Year of Life: A Pilot Study of Infant Start, a Parent-Implemented Intervention for Symptomatic Infants

PubMed Central

Vismara, L.; Wagner, A. L.; McCormick, C.; Young, G.; Ozonoff, S.

2016-01-01

The goal of early autism screening is earlier treatment. We pilot-tested a 12-week, low-intensity treatment with seven symptomatic infants ages 7–15 months. Parents mastered the intervention and maintained skills after treatment ended. Four comparison groups were matched from a study of infant siblings. The treated group of infants was significantly more symptomatic than most of the comparison groups at 9 months of age but was significantly less symptomatic than the two most affected groups between 18 and 36 months. At 36 months, the treated group had much lower rates of both ASD and DQs under 70 than a similarly symptomatic group who did not enroll in the treatment study. It appears feasible to identify and enroll symptomatic infants in parent-implemented intervention before 12 months, and the pilot study outcomes are promising, but testing the treatment’s efficacy awaits a randomized trial. PMID:25212413

Subclavian Steal Syndrome with or without Arterial Stenosis: A Review.

PubMed

Kargiotis, Odysseas; Siahos, Simos; Safouris, Apostolos; Feleskouras, Agisilaos; Magoufis, Georgios; Tsivgoulis, Georgios

2016-09-01

The subclavian-vertebral artery steal syndrome (SSS) is the hemodynamic phenomenon of blood flow reversal in the vertebral artery due to significant stenosis or occlusion of the proximal subclavian artery or the innominate artery. Occasionally, SSS is diagnosed in patients not harboring arterial stenosis. With the exception of arterial congenital malformations, the limited case reports of SSS with intact subclavian artery are attributed to dialysis arteriovenous fistulas (AVFs). Interestingly, these cases are more frequently symptomatic than those with the classical atherosclerotic SSS forms. On the other hand, the disclosure of SSS due to subclavian/innominate artery atherosclerotic stenosis, even in the absence of accompanying symptoms, should prompt a thorough cardiovascular work-up for the early detection of coexisting coronary, carotid, or peripheral artery disease. Herein, we review the incidence, clinical presentation, sonographic findings, and therapeutic interventions related to SSS with and without subclavian/innominate artery stenosis. We also review the currently available data in the literature regarding the association of SSS and dialysis AVF. In addition, we present a patient with bilateral symptomatic SSS as the result of an arteriovenous graft (AVG) that was introduced after the preexisting AVF in the contralateral arm became nonfunctional. SSS due to subclavian or innominate artery stenosis/occlusion is rarely symptomatic warranting interventional treatment. In contrast, when it is attributed to AVF, surgical correction is frequently necessary. Copyright © 2016 by the American Society of Neuroimaging.

Early-life chemical exposures and risk of metabolic syndrome.

PubMed

De Long, Nicole E; Holloway, Alison C

2017-01-01

The global prevalence of obesity has been increasing at a staggering pace, with few indications of any decline, and is now one of the major public health challenges worldwide. While obesity and metabolic syndrome (MetS) have historically thought to be largely driven by increased caloric intake and lack of exercise, this is insufficient to account for the observed changes in disease trends. There is now increasing evidence to suggest that exposure to synthetic chemicals in our environment may also play a key role in the etiology and pathophysiology of metabolic diseases. Importantly, exposures occurring in early life (in utero and early childhood) may have a more profound effect on life-long risk of obesity and MetS. This narrative review explores the evidence linking early-life exposure to a suite of chemicals that are common contaminants associated with food production (pesticides; imidacloprid, chlorpyrifos, and glyphosate) and processing (acrylamide), in addition to chemicals ubiquitously found in our household goods (brominated flame retardants) and drinking water (heavy metals) and changes in key pathways important for the development of MetS and obesity.

Middle lobe syndrome in children today.

PubMed

Romagnoli, Vittorio; Priftis, Kostas N; de Benedictis, Fernando M

2014-06-01

Middle lobe syndrome in children is a distinct clinical and radiographic entity that has been well described in the pediatric literature. However, issues regarding its etiology, clinical presentation, and management continue to puzzle the clinical practitioner. Pathophysiologically, there are two forms of middle lobe syndrome, namely obstructive and nonobstructive. Middle lobe syndrome may present as symptomatic or asymptomatic, as persistent or recurrent atelectasis, or as pneumonitis or bronchiectasis of the middle lobe and/or lingula. A lower threshold of performing a chest radiograph is warranted in children with persistent or recurrent nonspecific respiratory symptoms, particularly if there is clinical deterioration, in order to detect middle lobe syndrome and to initiate a further diagnostic and therapeutic workup. Copyright © 2014 Elsevier Ltd. All rights reserved.

Risk of Psychiatric Disorders Following Symptomatic Menopausal Transition

PubMed Central

Hu, Li-Yu; Shen, Cheng-Che; Hung, Jeng-Hsiu; Chen, Pan-Ming; Wen, Chun-Hsien; Chiang, Yung-Yen; Lu, Ti

2016-01-01

Abstract Menopausal transition is highly symptomatic in at least 20% of women. A higher prevalence of psychiatric symptoms, including depression, anxiety, and sleep disturbance, has been shown in women with symptomatic menopausal transition. However, a clear correlation between symptomatic menopausal transition and psychiatric disorders has not been established. We explored the association between symptomatic menopausal transition and subsequent newly diagnosed psychiatric disorders, including schizophrenia as well as bipolar, depressive, anxiety, and sleep disorders. We investigated women who were diagnosed with symptomatic menopausal transition by an obstetrician-gynecologist according to the data in the Taiwan National Health Insurance Research Database. A comparison cohort comprised age-matched women without symptomatic menopausal transition. The incidence rate and the hazard ratios of subsequent newly diagnosed psychiatric disorders were evaluated in both cohorts, based on the diagnoses of psychiatrists. The symptomatic menopausal transition and control cohorts each consisted of 19,028 women. The incidences of bipolar disorders (hazard ratio [HR] = 1.69, 95% confidence interval [CI] = 1.01–2.80), depressive disorders (HR = 2.17, 95% CI = 1.93–2.45), anxiety disorders (HR = 2.11, 95% CI = 1.84–2.41), and sleep disorders (HR = 2.01, 95% CI = 1.73–2.34) were higher among the symptomatic menopausal transition women than in the comparison cohort. After stratifying for follow-up duration, the incidence of newly diagnosed bipolar disorders, depressive disorders, anxiety disorders, and sleep disorders following a diagnosis of symptomatic menopausal transition remained significantly increased in the longer follow-up groups (1–5 and ≥ 5 years). Symptomatic menopausal transition might increase the risk of subsequent newly onset bipolar disorders, depressive disorders, anxiety disorders, and sleep disorders. A prospective study

The gastrointestinal manifestation of constitutional mismatch repair deficiency syndrome: from a single adenoma to polyposis-like phenotype and early onset cancer.

PubMed

Levi, Z; Kariv, R; Barnes-Kedar, I; Goldberg, Y; Half, E; Morgentern, S; Eli, B; Baris, H N; Vilkin, A; Belfer, R G; Niv, Y; Elhasid, R; Dvir, R; Abu-Freha, N; Cohen, S

2015-11-01

Data on the clinical presentation of constitutional mismatch repair deficiency syndrome (CMMRD) is accumulating. However, as the extraintestinal manifestations are often fatal and occur at early age, data on the systematic evaluation of the gastrointestinal tract is scarce. Here we describe 11 subjects with verified biallelic carriage and who underwent colonoscopy, upper endoscopy and small bowel evaluation. Five subjects were symptomatic and in six subjects the findings were screen detected. Two subjects had colorectal cancer and few adenomatous polyps (19, 20 years), three subjects had polyposis-like phenotype (13, 14, 16 years), four subjects had few adenomatous polyps (8, 12-14 years) and two subjects had no polyps (both at age 6). Of the three subjects in the polyposis-like group, two subjects had already developed high-grade dysplasia or cancer and one subject had atypical juvenile polyps suggesting juvenile polyposis. Three out of the five subjects that underwent repeated exams had significant findings during short interval. The gastrointestinal manifestations of CMMRD are highly dependent upon age of examination and highly variable. The polyps may also resemble juvenile polyposis. Intensive surveillance according to current guidelines is mandatory. © 2014 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Symptomatic Versus Inapparent Outcome in Repeat Dengue Virus Infections Is Influenced by the Time Interval between Infections and Study Year

PubMed Central

Mercado, Juan Carlos; Williams, Katherine L.; Vargas, Maria José; Gutierrez, Gamaliel; Kuan, Guillermina; Gordon, Aubree; Balmaseda, Angel; Harris, Eva

2013-01-01

Four dengue virus serotypes (DENV1-4) circulate globally, causing more human illness than any other arthropod-borne virus. Dengue can present as a range of clinical manifestations from undifferentiated fever to Dengue Fever to severe, life-threatening syndromes. However, most DENV infections are inapparent. Yet, little is known about determinants of inapparent versus symptomatic DENV infection outcome. Here, we analyzed over 2,000 DENV infections from 2004 to 2011 in a prospective pediatric cohort study in Managua, Nicaragua. Symptomatic cases were captured at the study health center, and paired healthy annual samples were examined on a yearly basis using serological methods to identify inapparent DENV infections. Overall, inapparent and symptomatic DENV infections were equally distributed by sex. The mean age of infection was 1.2 years higher for symptomatic DENV infections as compared to inapparent infections. Although inapparent versus symptomatic outcome did not differ by infection number (first, second or third/post-second DENV infections), substantial variation in the proportion of symptomatic DENV infections among all DENV infections was observed across study years. In participants with repeat DENV infections, the time interval between a first inapparent DENV infection and a second inapparent infection was significantly shorter than the interval between a first inapparent and a second symptomatic infection. This difference was not observed in subsequent infections. This result was confirmed using two different serological techniques that measure total anti-DENV antibodies and serotype-specific neutralizing antibodies, respectively. Taken together, these findings show that, in this study, age, study year and time interval between consecutive DENV infections influence inapparent versus symptomatic infection outcome, while sex and infection number had no significant effect. Moreover, these results suggest that the window of cross-protection induced by a first

Early and long-term outcomes of coronary artery bypass grafting in patients with acute coronary syndrome versus stable angina pectoris.

PubMed

Fukui, Toshihiro; Tabata, Minoru; Morita, Satoshi; Takanashi, Shuichiro

2013-06-01

The aim of the present study was to determine the early and long-term outcomes of coronary artery bypass grafting in patients with acute coronary syndrome and stable angina pectoris. From September 2004 to September 2011, 382 patients with acute coronary syndrome (unstable angina pectoris and non-ST-segment elevation myocardial infarction) and 851 patients with stable angina pectoris underwent first-time isolated coronary artery bypass grafting at our institute. The early and long-term outcomes were compared between the 2 groups. Patients with acute coronary syndrome were older, were more likely to be women, had a smaller body surface area, and were more likely to have left main coronary artery disease. In both groups, bilateral internal thoracic artery grafts were used in approximately 89% of the patients, and off-pump techniques in approximately 97% of the patients. The acute coronary syndrome group had a greater operative death rate (2.6% vs 0.1%) and a greater incidence of low output syndrome (3.1% vs 1.2%) and hemodialysis requirement (2.9% vs 1.1%). Multivariate regression analysis demonstrated that age, acute coronary syndrome, lower ejection fraction, and higher creatinine level before surgery were independent predictors of operative death. However, among the hospital survivors, no differences were seen in freedom from all death (85.4% ± 2.5% vs 87.7% ± 2.0%), cardiac death (97.4% ± 0.9% vs 96.5% ± 0.9%), or major adverse cardiac and cerebrovascular events (78.0% ± 2.9% vs 78.1% ± 2.3%) at 7 years between the patients with acute coronary syndrome and stable angina pectoris. Although acute coronary syndrome is an independent predictor of early mortality in patients undergoing coronary artery bypass grafting, the long-term outcomes after surgery were similar between patients with acute coronary syndrome and stable angina pectoris who survived the early postoperative period. Copyright © 2013 The American Association for Thoracic Surgery. Published by

Symptomatic unilateral vocal fold paralysis following cardiothoracic surgery.

PubMed

Puccinelli, Cassandra; Modzeski, Mara C; Orbelo, Diana; Ekbom, Dale C

Unilateral vocal fold paralysis (UVFP) is a complication associated with cardiothoracic procedures that presents clinically as dysphonia and/or dysphagia with or without aspiration. The literature lacks both data on recovery of mobility and consensus on best management. Herein, our goals are to 1) Identify cardiothoracic procedures associated with symptomatic UVFP at our institution; 2) Review timing and nature of laryngology diagnosis and management; 3) Report spontaneous recovery rate of vocal fold mobility. Retrospective case series at single tertiary referral center between 2002 and 2015. 141 patients were included who underwent laryngology interventions (micronized acellular dermis injection laryngoplasty and/or type 1 thyroplasty) to treat symptomatic UVFP diagnosed subsequent to cardiothoracic surgery. Pulmonary procedures were most often associated with UVFP (n=50/141; 35.5%). 87.2% had left-sided paralysis (n=123/141). Median time to diagnosis was 42days (x¯=114±348). Over time, UVFP was diagnosed progressively earlier after cardiothoracic surgery. 63.4% of patients (n=95/141) underwent injection laryngoplasty as their initial intervention with median time from diagnosis to injection of 11days (x¯=29.6±54). 41.1% (n=58/141) ultimately underwent type 1 thyroplasty at a median of 232.5days (x¯=367±510.2) after cardiothoracic surgery. 10.2% (n=9/88) of those with adequate follow-up recovered full vocal fold mobility. Many cardiothoracic procedures are associated with symptomatic UVFP, predominantly left-sided. Our data showed poor recovery of vocal fold mobility relative to other studies. Early diagnosis and potential surgical medialization is important in the care of these patients. Copyright © 2017 Elsevier Inc. All rights reserved.

Prevalence of symptomatic urinary calculi in Kerman, Iran.

PubMed

Ketabchi, Ali Asghar; Aziziolahi, Gholam Abbas

2008-01-01

In a cross-sectional study, we evaluated the prevalence of symptomatic urinary calculi in Kerman, Iran. A total of 2431 citizens of Kerman were surveyed from September of 2005 to April 2006. The study population was selected by cluster method from 5 different areas, and 100 houses in each area were randomly approached. Questions on the urinary symptoms consisted of flank pain, urogenital pain, dysuria or any difficulty in urination, and alterations in urine color. Individuals with a suspicion of urinary calculi based on their symptoms were evaluated by physical examination, laboratory investigations, and plain abdominal radiography. Ultrasonography and intravenous urography were done if required to confirm the diagnoses. Of 2431 individuals, 196 (8.1%) had symptoms in favor of urinary calculus diagnosis, of whom 47 (24.0%) had urinary calculi (prevalence of symptomatic urolithiasis was 1.9%). Of the patients, 35 (74.5%) were underweight. Compared to the other participants, the patients with urinary calculus were younger (P = .001) and a larger proportion of them had a positive family history of urinary calculi (14.9% versus 6.5%; P = .02) and were rug weavers and office employees. Dependency on opium and its derivative was significantly more frequent in patients with urinary calculi (25.5% versus 0.2%; P = .001). This study showed that the prevalence of symptomatic urinary calculi in this hot and dry area is relatively high. According to our findings, the other factors including specific occupations, malnutrition, and substance use may also have influence on the rate of urinary calculus formation. Therefore, to prevention and early treatment of urinary calculi, evaluation of potential predisposing conditions should be considered with special attention to regional factors.

Benefits of the quality assured double and arbitration reading of mammograms in the early diagnosis of breast cancer in symptomatic women.

PubMed

Waldmann, Annika; Kapsimalakou, Smaragda; Katalinic, Alexander; Grande-Nagel, Isabell; Stoeckelhuber, Beate M; Fischer, Dorothea; Barkhausen, Joerg; Vogt, Florian M

2012-05-01

To address the benefits of double and arbitration reading regarding tumour detection rates, percentage of in situ tumours, and number (of patients) needed to send for expert reading (number needed to treat; NNT) for one additional tumour finding. QuaMaDi is a quality assured breast cancer diagnosis programme; with two-view mammography (craniocaudal, mediolateral oblique) and, in case of breast density ACR 3 or 4, routine ultrasound imaging; and with independent double reading of all images. A consecutive sample of symptomatic women, i.e. women at risk for breast cancer, women aged 70 and above, and/or women with preceding BI-RADS III findings, was analysed. 28,558 mammograms were performed (mean age of women: 57.3 [standard deviation: 12.3] years). Discordant findings were present in 3,837 double readings and were sent for arbitration reading. After histopathological assessment, 52 carcinomas were found (thereof 32% in situ). These carcinomas accounted for 1.8 tumours per 1,000 examinations in the total cohort and increased the tumour detection rate up to 16.4/1,000. The NNT in discordant cases was 74. Double and arbitration reading appears to be a useful tool to ensure the quality of early detection of breast lesions in symptomatic women during indication-based, standardised mammography. • Quality assured breast cancer diagnosis is feasible outside organised screening structures. • Double and arbitration reading is beneficial for populations ineligible for screening. • Double and arbitration reading increases the tumour detection rate. • Double and arbitration reading increases the percentage of in situ cancers.

The punctal apposition syndrome: a new surgical approach.

PubMed

Francis, I C; Wan, M K

2002-11-01

To assess the punctal apposition syndrome (PAS) and its response to lateral canthal tendon (LCT) repair. In this retrospective, interventional case series, five patients (seven symptomatic eyes) with PAS were managed. Lateral canthal tendon repair was performed in all seven eyes. The main outcome measure was correction of watery eye symptomatology. All five patients achieved symptomatic resolution. Conjunctivochalasis and functional nasolacrimal duct obstruction were associated with the PAS. This new surgical approach to the PAS, using a LCT repair, was successful in all patients. Two patients (three eyes) required conjunctivochalasis excision.

Asperger's syndrome and autism: comparison of early history and outcome.

PubMed

Szatmari, P; Bartolucci, G; Bremner, R

1989-12-01

The authors compared children with Asperger syndrome (AS) with high-functioning autistic children and psychiatric outpatient controls on measures of early history and outcome. In terms of their early history, the autistic probands showed more social impairment, a higher frequency of echolalia and pronoun reversal, and a more restricted range of activities than the AS group. Cluster analysis suggested refinements to the diagnostic criteria, which resulted in larger differences between the groups on these early history measures. In terms of their outcome, the autistic probands spent more time in special education classes but developed fewer accessory psychiatric symptoms than the AS children. It was clear, however, that there were no substantive, qualitative differences between the AS and autistic groups, indicating that AS should be considered a mild form of high-functioning autism. The inclusion of AS among the autistic spectrum of disorders has implications both for aetiological studies and for prevalence estimates of the pervasive developmental disorders.

Symptomatic Remission and Counterfactual Reasoning in Schizophrenia

PubMed Central

Albacete, Auria; Contreras, Fernando; Bosque, Clara; Gilabert, Ester; Albiach, Ángela; Menchón, José M.

2017-01-01

Counterfactual thinking (CFT) is a type of conditional reasoning involving mental representations of alternatives to past factual events that previous preliminary research has suggested to be impaired in schizophrenia. However, despite the potential impact of these deficits on the functional outcome of these patients, studies examining the role of CFT in this disorder are still few in number. The present study aimed to extent previous results by evaluating CFT in the largest sample to date of schizophrenia patients in symptomatic remission and healthy controls. The relationship with symptomatology, illness duration, and sociodemographic characteristics was also explored. Methods: Seventy-eight schizophrenia patients and 84 healthy controls completed a series of tests that examined the generation of counterfactual thoughts, the influence of the “causal order effect,” and the ability to counterfactually derive inferences by using de Counterfactual Inference Test. Results: Compared with controls, patients generated fewer counterfactual thoughts when faced with a simulated scenario. This deficit was negatively related to scores on all dimensions of the Positive and Negative Syndrome Scale-PANNS, as well as to longer illness duration. The results also showed that schizophrenia patients deviated significantly from the normative pattern when generating inferences from CFT. Conclusions: These findings reveal CFT impairment to be present in schizophrenia even when patients are in symptomatic remission. However, symptomatology and illness duration may have a negative influence on these patients' ability to generate counterfactual thoughts. The results might support the relevance of targeting CFT in future treatment approaches, although further research is needed to better describe the relationship between CFT and both symptomatology and functional outcome. PMID:28111561

Coronary involvement in Churg-Strauss syndrome.

PubMed

Dendramis, Gregory; Paleologo, Claudia; Piraino, Davide; Arrotti, Salvatore; Assennato, Pasquale

2015-01-01

Systemic autoimmune diseases are themselves a relevant and independent risk factor for atherosclerosis and coronary ectasia. We describe a case of a 58-year-old Caucasian man who was admitted to our department for unstable angina. History of asthma, paranasal sinus abnormality, and peripheral eosinophilia given a high suspicion of Churg-Strauss syndrome (CSS). Diagnosis was performed with 5 of the 6 American College of Rheumatology criteria. The knowledge that CSS is often associated with significant coronary artery involvement and the persistence of chest pain led us to performing immediately a coronary angiography. Coronary angiography showed diffuse ectasic lesions, chronic occlusion of left anterior descending artery with homocoronary collateral circulation from left circumflex artery and subocclusive stenosis in the proximal tract of posterior descending artery. The early recognition of CSS, an aggressive invasive diagnostic approach, and an early appropriate therapy are important to prevent the progressive and permanent cardiac damage in these patients. In the setting of a multidisciplinary approach, careful cardiac assessment is an essential step in CSS, even in mildly symptomatic patients. Copyright © 2015 Cardiological Society of India. Published by Elsevier B.V. All rights reserved.

Reversible splenial lesion syndrome after blood transfusion presents callosal disconnection syndrome: A case report.

PubMed

Ma, Xinxin; Su, Wen; Chen, Haibo

2018-06-01

Reversible splenial lesion syndrome (RESLES) is a reversible condition with an excellent prognosis in most patients. The clinical features include altered states of consciousness, delirium, headache, and seizures, but no callosal disconnection syndromes have been described in RESLES. We presented a 57-year-old patient with alien hand syndrome, autotopagnosia, gait disorders, and left ideomotor apraxia after blood transfusion. The brain magnetic resonance imaging (MRI) showed a few regions with high signal intensity in the genu, body, and splenium of the right corpus callosum on diffusion weighted images. Cerebrovascular examination was unremarkable. He was diagnosed with RESLES and callosal disconnection syndrome. The patient received symptomatic and supportive treatment in our hospital. He recovered to baseline on following up of 6 months and abnormalities on brain MRI completely disappeared. Neurologists should be aware of the symptoms of callosal disconnection syndrome in RESLES. In addition, caution should be taken when transfusing blood products in patients with gastrointestinal bleeding.

Early treatment is associated with improved cognition in Hurler syndrome.

PubMed

Poe, Michele D; Chagnon, Sarah L; Escolar, Maria L

2014-11-01

Hurler syndrome is the most clinically severe form of an autosomal recessive lysosomal disorder characterized by the deficiency of α-L-iduronidase. The resulting accumulation of glycosaminoglycans causes progressive multisystem deterioration, resulting in death in childhood. Umbilical cord blood transplantation from unrelated donors has been previously shown to improve neurological outcomes of children <2 years of age and prolong life. The purpose of this article is to determine whether age at transplantation can predict cognitive outcomes. Between June 1997 and February 2013, 31 patients with Hurler syndrome underwent umbilical cord blood transplantation and were evaluated at baseline and every 6 to 12 months thereafter. All 31 patients underwent complete neurodevelopmental evaluation (median follow-up = 7.3 years, range = 2-21.7) and a median of 7.0 evaluations (range = 3-18). Younger age at transplantation was associated with improved cognitive function (p = 0.001), receptive and expressive language (p = 0.004 and p = 0.01), and adaptive behavior (p = 0.03). Early age at transplantation is a strong predictor of cognitive, language, and adaptive behavior outcomes. Children younger than 9 months at the time of transplant showed normal cognitive development. Our results demonstrate that early diagnosis is necessary for optimal outcomes and support the need for newborn screening, because most patients are not identified at this young age. © 2014 American Neurological Association.

Trajectories of Early Brain Volume Development in Fragile X Syndrome and Autism

ERIC Educational Resources Information Center

Hazlett, Heather Cody; Poe, Michele D.; Lightbody, Amy A.; Styner, Martin; MacFall, James R.; Reiss, Allan L.; Piven, Joseph

2012-01-01

Objective: To examine patterns of early brain growth in young children with fragile X syndrome (FXS) compared with a comparison group (controls) and a group with idiopathic autism. Method: The study included 53 boys 18 to 42 months of age with FXS, 68 boys with idiopathic autism (autism spectrum disorder), and a comparison group of 50 typically…

A clinical perspective of obesity, metabolic syndrome and cardiovascular disease

PubMed Central

Lean, Mike EJ

2016-01-01

The metabolic syndrome is a condition characterized by a special constellation of reversible major risk factors for cardiovascular disease and type 2 diabetes. The main, diagnostic, components are reduced HDL-cholesterol, raised triglycerides, blood pressure and fasting plasma glucose, all of which are related to weight gain, specifically intra-abdominal/ectopic fat accumulation and a large waist circumference. Using internationally adopted arbitrary cut-off values for waist circumference, having metabolic syndrome doubles the risk of cardiovascular disease, but offers an effective treatment approach through weight management. Metabolic syndrome now affects 30–40% of people by age 65, driven mainly by adult weight gain, and by a genetic or epigenetic predisposition to intra-abdominal/ectopic fat accumulation related to poor intra-uterine growth. Metabolic syndrome is also promoted by a lack of subcutaneous adipose tissue, low skeletal muscle mass and anti-retroviral drugs. Reducing weight by 5–10%, by diet and exercise, with or without, anti-obesity drugs, substantially lowers all metabolic syndrome components, and risk of type 2 diabetes and cardiovascular disease. Other cardiovascular disease risk factors such as smoking should be corrected as a priority. Anti-diabetic agents which improve insulin resistance and reduce blood pressure, lipids and weight should be preferred for diabetic patients with metabolic syndrome. Bariatric surgery offers an alternative treatment for those with BMI ≥ 40 or 35–40 kg/m2 with other significant co-morbidity. The prevalence of the metabolic syndrome and cardiovascular disease is expected to rise along with the global obesity epidemic: greater emphasis should be given to effective early weight-management to reduce risk in pre-symptomatic individuals with large waists. PMID:26998259

A clinical perspective of obesity, metabolic syndrome and cardiovascular disease.

PubMed

Han, Thang S; Lean, Mike Ej

2016-01-01

The metabolic syndrome is a condition characterized by a special constellation of reversible major risk factors for cardiovascular disease and type 2 diabetes. The main, diagnostic, components are reduced HDL-cholesterol, raised triglycerides, blood pressure and fasting plasma glucose, all of which are related to weight gain, specifically intra-abdominal/ectopic fat accumulation and a large waist circumference. Using internationally adopted arbitrary cut-off values for waist circumference, having metabolic syndrome doubles the risk of cardiovascular disease, but offers an effective treatment approach through weight management. Metabolic syndrome now affects 30-40% of people by age 65, driven mainly by adult weight gain, and by a genetic or epigenetic predisposition to intra-abdominal/ectopic fat accumulation related to poor intra-uterine growth. Metabolic syndrome is also promoted by a lack of subcutaneous adipose tissue, low skeletal muscle mass and anti-retroviral drugs. Reducing weight by 5-10%, by diet and exercise, with or without, anti-obesity drugs, substantially lowers all metabolic syndrome components, and risk of type 2 diabetes and cardiovascular disease. Other cardiovascular disease risk factors such as smoking should be corrected as a priority. Anti-diabetic agents which improve insulin resistance and reduce blood pressure, lipids and weight should be preferred for diabetic patients with metabolic syndrome. Bariatric surgery offers an alternative treatment for those with BMI ≥ 40 or 35-40 kg/m(2) with other significant co-morbidity. The prevalence of the metabolic syndrome and cardiovascular disease is expected to rise along with the global obesity epidemic: greater emphasis should be given to effective early weight-management to reduce risk in pre-symptomatic individuals with large waists.

Communicative Acts of a Child with Rubinstein-Taybi Syndrome during Early Communicative Development

ERIC Educational Resources Information Center

Carvey, Jayme S.; Bernhardt, B. May

2009-01-01

Rubinstein-Taybi syndrome (RTS) is a rare genetic developmental disorder that often shows associated language delay. However, literature on language development in RTS is very limited, particularly for the period of early communicative development, when standardized testing can be minimally informative. The purpose of the current study was to…

The Early Interventionist and the Medical Problems of the Child with Down Syndrome.

ERIC Educational Resources Information Center

Roizen, Nancy J.

2003-01-01

This article describes medical problems that occur more frequently in young children with Down syndrome. These include common cardiac, hearing, and vision problems and less common thyroid and celiac diseases. Guidelines for preventing dental and obesity problems are followed by suggestions to early interventionists for watching for leukemia, neck…

Early diagnosis of acute coronary syndrome.

PubMed

Katus, Hugo; Ziegler, André; Ekinci, Okan; Giannitsis, Evangelos; Stough, Wendy Gattis; Achenbach, Stephan; Blankenberg, Stefan; Brueckmann, Martina; Collinson, Paul; Comaniciu, Dorin; Crea, Filippo; Dinh, Wilfried; Ducrocq, Grégory; Flachskampf, Frank A; Fox, Keith A A; Friedrich, Matthias G; Hebert, Kathy A; Himmelmann, Anders; Hlatky, Mark; Lautsch, Dominik; Lindahl, Bertil; Lindholm, Daniel; Mills, Nicholas L; Minotti, Giorgio; Möckel, Martin; Omland, Torbjørn; Semjonow, Véronique

2017-11-01

The diagnostic evaluation of acute chest pain has been augmented in recent years by advances in the sensitivity and precision of cardiac troponin assays, new biomarkers, improvements in imaging modalities, and release of new clinical decision algorithms. This progress has enabled physicians to diagnose or rule-out acute myocardial infarction earlier after the initial patient presentation, usually in emergency department settings, which may facilitate prompt initiation of evidence-based treatments, investigation of alternative diagnoses for chest pain, or discharge, and permit better utilization of healthcare resources. A non-trivial proportion of patients fall in an indeterminate category according to rule-out algorithms, and minimal evidence-based guidance exists for the optimal evaluation, monitoring, and treatment of these patients. The Cardiovascular Round Table of the ESC proposes approaches for the optimal application of early strategies in clinical practice to improve patient care following the review of recent advances in the early diagnosis of acute coronary syndrome. The following specific 'indeterminate' patient categories were considered: (i) patients with symptoms and high-sensitivity cardiac troponin <99th percentile; (ii) patients with symptoms and high-sensitivity troponin <99th percentile but above the limit of detection; (iii) patients with symptoms and high-sensitivity troponin >99th percentile but without dynamic change; and (iv) patients with symptoms and high-sensitivity troponin >99th percentile and dynamic change but without coronary plaque rupture/erosion/dissection. Definitive evidence is currently lacking to manage these patients whose early diagnosis is 'indeterminate' and these areas of uncertainty should be assigned a high priority for research. Published on behalf of the European Society of Cardiology. All rights reserved. © The Author 2017. For permissions, please email: journals.permissions@oup.com.

An efficient data mining framework for the characterization of symptomatic and asymptomatic carotid plaque using bidimensional empirical mode decomposition technique.

PubMed

Molinari, Filippo; Raghavendra, U; Gudigar, Anjan; Meiburger, Kristen M; Rajendra Acharya, U

2018-02-23

Atherosclerosis is a type of cardiovascular disease which may cause stroke. It is due to the deposition of fatty plaque in the artery walls resulting in the reduction of elasticity gradually and hence restricting the blood flow to the heart. Hence, an early prediction of carotid plaque deposition is important, as it can save lives. This paper proposes a novel data mining framework for the assessment of atherosclerosis in its early stage using ultrasound images. In this work, we are using 1353 symptomatic and 420 asymptomatic carotid plaque ultrasound images. Our proposed method classifies the symptomatic and asymptomatic carotid plaques using bidimensional empirical mode decomposition (BEMD) and entropy features. The unbalanced data samples are compensated using adaptive synthetic sampling (ADASYN), and the developed method yielded a promising accuracy of 91.43%, sensitivity of 97.26%, and specificity of 83.22% using fourteen features. Hence, the proposed method can be used as an assisting tool during the regular screening of carotid arteries in hospitals. Graphical abstract Outline for our efficient data mining framework for the characterization of symptomatic and asymptomatic carotid plaques.

Multiple abdominal cysts in a patient with Gorlin-Goltz syndrome: a case report.

PubMed

Haenen, F; Hubens, G; Creytens, D; Vaneerdeweg, W

2013-01-01

A rare case of symptomatic mesenteric cysts in a patient with Gorlin-Goltz syndrome, associated with various neoplasms, is presented. The patient, known with Gorlin-Goltz syndrome, consulted with increasingly severe abdominal pain and large abdominal cysts. At surgery, the cysts were excised and the postoperative course was uneventful. In conclusion, this case reminds clinicians to always maintain a wide differential diagnosis when dealing with patients known with Gorlin-Goltz syndrome.

A pilot randomized double-blind placebo-controlled trial on topical chamomile (Matricaria chamomilla L.) oil for severe carpal tunnel syndrome.

PubMed

Hashempur, Mohammad Hashem; Lari, Zeinab Nasiri; Ghoreishi, Parissa Sadat; Daneshfard, Babak; Ghasemi, Mohammad Sadegh; Homayouni, Kaynoosh; Zargaran, Arman

2015-11-01

To assess the effectiveness of standardized topical Chamomile (Matricaria chamomilla L.) oil in patients with severe carpal tunnel syndrome, as a complementary treatment. A pilot randomized double-blind placebo-controlled trial was conducted. Twenty six patients with documented severe carpal tunnel syndrome were treated in two parallel groups with a night splint plus topical chamomile oil or placebo. They were instructed to use their prescribed oil for 4 weeks, twice daily. Symptomatic and functional status of the patients and their electrodiagnostic parameters were evaluated when enrolled and after the trial period, as our outcome measures. A significant improvement of symptomatic and functional status of patients in the chamomile oil group was observed (p = 0.019 and 0.016, respectively) compared with those in the placebo group. However, electrodiagnostic parameters showed no significant changes between the two groups. Chamomile oil improved symptomatic and functional status of patients with severe carpal tunnel syndrome. Copyright © 2015 Elsevier Ltd. All rights reserved.

Kleine-Levin Syndrome Treated With Clarithromycin

PubMed Central

Rezvanian, Elham; Watson, Nathaniel F.

2013-01-01

Kleine-Levin syndrome (KLS) is a rare sleep disorder characterized by periodic hypersomnia and various degrees of cognitive and behavioral disturbance, hyperphagia, and hypersexuality. Effective treatment is challenging. Stimulants marginally address sleepiness, but may increase irritability and do not improve cognitive and behavioral disturbances. Modafinil may shorten the symptomatic period but not the recurrence rate. Lithium and carbamazepine are beneficial in some cases, possibly related to similarities between KLS and affective disorders. Currently, no single medication is consistently successful in treating the syndrome. Here we report the short-term effect of clarithromycin in a patient with KLS. Citation: Rezvanian E; Watson NF. Kleine-Levin syndrome treated with clarithromycin. J Clin Sleep Med 2013;9(11):1211-1212. PMID:24235906

Hashimoto Thyroiditis and Nephrocalcinosis in a Child with Down Syndrome

PubMed Central

Spahiu, Lidvana; Jashari, Haki; Mulliqi-Kotori, Vjosa; Elezi-Rugova, Blerta; Merovci, Besart

2016-01-01

Introduction: Hypothyroidism has been reported to affect renal function and structure. However, the association of hypothyroidism with distal renal tubular acidosis (dRTA) is rarely reported in children. Case Presentation: We present a 6-year-boy with Down syndrome admitted in our department due to vomiting, weakness, polyuria, polydipsia, irritability and weight loss in the last few weeks. Investigations revealed features of hypokalemia, metabolic acidosis and alkaline urine consistent with dTRA. Abdominal ultrasound found nephrocalcinosis. In addition, Antithyroid peroxidase antibodies were positive, suggesting an autoimmune background for the pathogenesis of the tubular dysfunction. Treatment for dRTA and hypothyroidism was started and symptomatic improve was noticed. Conclusion: dRTA should be excluded in children with autoimmune disorders who develop weakness, polyuria, polydipsia or growth failure. Early diagnosis would reduce long-term complications. PMID:27147809

Similar Developmental Trajectories in Autism and Asperger Syndrome: From Early Childhood to Adolescence

ERIC Educational Resources Information Center

Szatmari, Peter; Bryson, Susan; Duku, Eric; Vaccarella, Liezanne; Zwaigenbaum, Lonnie; Bennett, Teresa; Boyle, Michael H.

2009-01-01

Objective: The objective of this study was to chart the developmental trajectories of high-functioning children with autism spectrum disorders (ASD) from early childhood to adolescence using the presence and absence of structural language impairment (StrLI) as a way of differentiating autism from Asperger syndrome (AS). Method: Sixty-four…

Relationships between Early Gestures and Later Language in Children with Fragile X Syndrome

ERIC Educational Resources Information Center

Flenthrope, Jennifer L.; Brady, Nancy C.

2010-01-01

Purpose: The authors hypothesized that significant positive relationships would exist between early gesture use and later language attainments in children with fragile X syndrome (FXS), as has been reported in studies with other populations. Method: Participants were young children with FXS and limited expressive language (21 boys, 4 girls),…

Kinetics of visual field loss in Usher syndrome Type II.

PubMed

Iannaccone, Alessandro; Kritchevsky, Stephen B; Ciccarelli, Maria Laura; Tedesco, Salvatore A; Macaluso, Claudio; Kimberling, William J; Somes, Grant W

2004-03-01

To characterize the kinetics of visual field decay in Usher syndrome type II. The area of 137 Goldmann visual fields (GVFs) delimited with the I4e and V4e targets was measured in each eye of 19 patients with an established diagnosis of Usher syndrome type II, and the average interocular GVF area for each patient at each time point was calculated. The average follow-up was 5.58 years. Symptomatic disease duration was defined as years elapsed after symptoms were first noted. The data set (n = 67 for the I4e target; n = 70 for the V4e target) was analyzed with a random coefficient mixed model to identify the best-fit model describing the decay of visual field size over time. The half-life of the residual visual field area (t(0.5)) was also calculated. The variable that best explained the decay of the GVF area was the duration of symptomatic disease. In an exponential model, the slope estimate for the natural log of the GVF area was -0.172 for the I4e target and -0.136 for the V4e target for each year of symptomatic disease. Accordingly, t(0.5) was approximately 4 years for the I4e target and 5 years for the V4e target. These estimates are very similar to those in previous studies of nonsyndromic retinitis pigmentosa (RP). This study suggests that the kinetics of GVF decline in Usher syndrome type II are, on average, very similar to other forms of RP and that, once the disease becomes symptomatic, GVF deterioration follows stereotyped kinetics, even in patients with late-onset retinal disease.

Slit ventricle syndrome and early-onset secondary craniosynostosis in an infant

PubMed Central

Ryoo, Hyun Gee; Kim, Seung-Ki; Cheon, Jung-Eun; Lee, Ji Yeoun; Wang, Kyu-Chang; Phi, Ji Hoon

2014-01-01

Patient: Female, 14 months Final Diagnosis: Slit ventricle syndrome Symptoms: Hydrocephalus • lethargy and seizure • vomiting Medication: — Clinical Procedure: — Specialty: Pediatrics and Neonatology Objective: Challenging differential diagnosis Background: Shunt surgery is a common solution for hydrocephalus in infancy. Slit ventricle syndrome and secondary craniosynostosis are late-onset complications after shunt placement; these 2 conditions occasionally occur together. Case Report: We report a case of early-onset secondary craniosynostosis with slit ventricle syndrome after shunt surgery in an infant, which led to a catastrophic increase in intracranial pressure (ICP). A 4-month-old girl with a Dandy-Walker malformation underwent a ventriculoperitoneal shunt procedure. Her head circumference (HC) gradually decreased to approximately the 5th percentile for her age group after shunt surgery. Seven months later, she developed increased ICP symptoms and underwent a shunt revision with a diagnosis of shunt malfunction. Her symptoms were temporarily relieved, but she repeatedly visited the emergency room (ER) for the same symptoms and finally collapsed, with an abrupt increase in ICP, 3 months later. Further evaluation revealed the emergence of sagittal synostosis at 7 months after initial shunt surgery. After reviewing all clinical data, slit ventricle syndrome combined with secondary craniosynostosis was diagnosed. Emergent cranial expansion surgery with shunt revision was performed, and the increased ICP signs subsided in the following days. Conclusions: Clinical suspicion and long-term HC monitoring are important in the diagnosis of slit ventricle syndrome and secondary craniosynostosis after shunt surgery, even in infants and young children. PMID:24944727

A model-based assessment of the cost-utility of strategies to identify Lynch syndrome in early-onset colorectal cancer patients.

PubMed

Snowsill, Tristan; Huxley, Nicola; Hoyle, Martin; Jones-Hughes, Tracey; Coelho, Helen; Cooper, Chris; Frayling, Ian; Hyde, Chris

2015-04-25

Lynch syndrome is an autosomal dominant cancer predisposition syndrome caused by mutations in the DNA mismatch repair genes MLH1, MSH2, MSH6 and PMS2. Individuals with Lynch syndrome have an increased risk of colorectal cancer, endometrial cancer, ovarian and other cancers. Lynch syndrome remains underdiagnosed in the UK. Reflex testing for Lynch syndrome in early-onset colorectal cancer patients is proposed as a method to identify more families affected by Lynch syndrome and offer surveillance to reduce cancer risks, although cost-effectiveness is viewed as a barrier to implementation. The objective of this project was to estimate the cost-utility of strategies to identify Lynch syndrome in individuals with early-onset colorectal cancer in the NHS. A decision analytic model was developed which simulated diagnostic and long-term outcomes over a lifetime horizon for colorectal cancer patients with and without Lynch syndrome and for relatives of those patients. Nine diagnostic strategies were modelled which included microsatellite instability (MSI) testing, immunohistochemistry (IHC), BRAF mutation testing (methylation testing in a scenario analysis), diagnostic mutation testing and Amsterdam II criteria. Biennial colonoscopic surveillance was included for individuals diagnosed with Lynch syndrome and accepting surveillance. Prophylactic hysterectomy with bilateral salpingo-oophorectomy (H-BSO) was similarly included for women diagnosed with Lynch syndrome. Costs from NHS and Personal Social Services perspective and quality-adjusted life years (QALYs) were estimated and discounted at 3.5% per annum. All strategies included for the identification of Lynch syndrome were cost-effective versus no testing. The strategy with the greatest net health benefit was MSI followed by BRAF followed by diagnostic genetic testing, costing £5,491 per QALY gained over no testing. The effect of prophylactic H-BSO on health-related quality of life (HRQoL) is uncertain and could outweigh

Sick sinus syndrome as a complication of mediastinal radiation therapy

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

Pohjola-Sintonen, S.; Toetterman, K.J.K.; Kupari, M.

1990-06-01

A 33-year-old man who had received mediastinal radiation therapy for Hodgkin's disease 12 years earlier developed a symptomatic sick sinus syndrome requiring the implantation of a permanent pacemaker. The sick sinus syndrome and a finding of an occult constrictive pericarditis were considered to be due to the previous mediastinal irradiation. A ventricular pacemaker was chosen because mediastinal radiotherapy also increases the risk of developing atrioventricular conduction defects.

Nonoperative treatment of symptomatic spondylolysis.

PubMed

Kurd, Mark F; Patel, Deepan; Norton, Robert; Picetti, George; Friel, Brian; Vaccaro, Alexander R

2007-12-01

Symptomatic spondylolysis resulting from a stress fracture of the pars interarticularis is a cause of low back pain in the juvenile and adolescent patient. Treatment is conservative in the majority of cases. To analyze the outcome of patients with symptomatic isthmic spondylolysis treated nonoperatively with a custom fit thoracolumbar orthosis and activity cessation for 3 months followed by an organized physical therapy program. Retrospective case series. Four hundred thirty-six juvenile and adolescent patients with spondylolysis. Pain improvement, hamstring flexibility, range of motion, resolution of back spasms, and return to previous activities. Retrospective review of 436 juvenile and adolescent patients with symptomatic spondylolysis confirmed by single-photon emission computed tomography or computed tomography. Clinical outcomes were assessed through patient history and physical examination. Ninety-five percent of patients achieved excellent results according to a modified Odom's Criteria. The remaining 5% of patients achieved good results as they required occasional nonsteroidal anti-inflammatory drugs to relieve pain. Back spasms were resolved and hamstring tightness and range of motion returned to normal in all patients. All patients returned to their preinjury activity level. No patients went on to surgery. Symptomatic juvenile and adolescent patients with an isthmus spondylolysis may be effectively managed with a custom fit thoracolumbar orthosis brace and activity cessation for approximately 3 months followed by an organized physical therapy program.

Cognitive bias in symptomatic and recovered agoraphobics.

PubMed

Stoler, L S; McNally, R J

1991-01-01

Symptomatic agoraphobics, recovered agoraphobics, and normal control subjects completed a series of sentence stems that had either ambiguous or unambiguous meanings, and had either a potentially threatening or a nonthreatening connotation. The written completions made by subjects to these stems were classified as indicating either a biased (i.e. threat-related) or unbiased interpretation of the meaning of the stem, and if a biased interpretation was made, whether the subject indicated efforts at adaptive coping with the perceived threat. Results indicated that symptomatic agoraphobics exhibited strong biases for interpreting information as threatening, relative to normal control subjects. Moreover, recovered agoraphobics resembled symptomatic agoraphobics more than normal control subjects, thus indicating that cognitive biases may persist following cessation of panic attacks and reductions in avoidance behavior. However, recovered agoraphobics also exhibited tendencies to cope adaptively with perceived threats whereas symptomatic agoraphobics did not.

[EPIDEMIOLOGY OF OVER-ACTIVE BLADDER (OAB) SYNDROME].

PubMed

Eshkoli, Tamar; Yohai, David; Laron, Elad; Weintraub, Adi Y

2016-11-01

An over-active bladder is a common disorder which influences women's health and quality of life. There is difficulty defining the exact prevalence of the disorder since there are various definitions in the literature. The ICS definition from 2002 on the over-active bladder (OAB) syndrome enables more uniformity, by declaring that OAB syndrome is a symptomatic syndrome defined as presence of urgency with or without urinary incontinence, mostly accompanied by frequency and nocturia. In this article we reviewed the current medical literature on the prevalence of the OAB syndrome by focusing on relevant crosssectional and longitudinal studies, the trend changes during life, co-morbidities, the influence of quality of life and the economic burden following the disorder and its treatment. The authors' hope is that elevating awareness of the OAB syndrome will help improve its diagnosis and treatment.

Early Impairment of Lung Mechanics in a Murine Model of Marfan Syndrome

PubMed Central

Uriarte, Juan J.; Meirelles, Thayna; Gorbenko del Blanco, Darya; Nonaka, Paula N.; Campillo, Noelia; Sarri, Elisabet; Navajas, Daniel; Egea, Gustavo; Farré, Ramon

2016-01-01

Early morbidity and mortality in patients with Marfan syndrome (MFS) -a connective tissue disease caused by mutations in fibrillin-1 gene- are mainly caused by aorta aneurysm and rupture. However, the increase in the life expectancy of MFS patients recently achieved by reparatory surgery promotes clinical manifestations in other organs. Although some studies have reported respiratory alterations in MFS, our knowledge of how this connective tissue disease modifies lung mechanics is scarce. Hence, we assessed whether the stiffness of the whole lung and of its extracellular matrix (ECM) is affected in a well-characterized MFS mouse model (FBN1C1039G/+). The stiffness of the whole lung and of its ECM were measured by conventional mechanical ventilation and atomic force microscopy, respectively. We studied 5-week and 9-month old mice, whose ages are representative of early and late stages of the disease. At both ages, the lungs of MFS mice were significantly more compliant than in wild type (WT) mice. By contrast, no significant differences were found in local lung ECM stiffness. Moreover, histopathological lung evaluation showed a clear emphysematous-like pattern in MFS mice since alveolar space enlargement was significantly increased compared with WT mice. These data suggest that the mechanism explaining the increased lung compliance in MFS is not a direct consequence of reduced ECM stiffness, but an emphysema-like alteration in the 3D structural organization of the lung. Since lung alterations in MFS are almost fully manifested at an early age, it is suggested that respiratory monitoring could provide early biomarkers for diagnosis and/or follow-up of patients with the Marfan syndrome. PMID:27003297

Causes of death in remote symptomatic epilepsy.

PubMed

Day, S M; Wu, Y W; Strauss, D J; Shavelle, R M; Reynolds, R J

2005-07-26

To determine the causes of death of individuals with developmental disabilities that occur more frequently among those with remote symptomatic epilepsy (i.e., epilepsy occurring in persons with developmental delay or identified brain lesions) than for those without. The authors compared causes of mortality in persons with (n = 10,030) and without (n = 96,163) history of epilepsy in a California population of persons with mild developmental disabilities, 1988 to 2002. Subjects had traumatic brain injury, cerebral palsy, Down syndrome, autism, or a developmental disability with other or unknown etiology. There were 721,759 person-years of data, with 2,397 deaths. Underlying causes of death were determined from the State of California's official mortality records. Cause-specific death rates and standardized mortality ratios (SMRs) were computed for those with and without epilepsy relative to subjects in the California general population. Comparisons were then made between SMRs of those with and without epilepsy, and CIs on the ratios of SMRs were determined. Death rates for persons with epilepsy were elevated for several causes. The greatest excess was due to seizures (International Classification of Diseases-9 [ICD-9] 345; SMR 53.1, 95% CI 28.0 to 101.0) and convulsions (ICD-9 780.3; SMR 25.2, 95% CI 11.7 to 54.2). Other causes occurring more frequently in those with epilepsy included brain cancer (SMR 5.2, 95% CI 2.2 to 12.1), respiratory diseases (SMR 1.7, 95% CI 1.2 to 2.5), circulatory diseases (SMR 1.3, 95% CI 1.0 to 1.7), and accidents (SMR 2.7, 95% CI 1.9 to 3.7), especially accidental drowning (SMR 12.8, 95% CI 7.0 to 23.2). Remote symptomatic epilepsy is associated with an increased risk of death. Seizures, aspiration pneumonia, and accidental drowning are among the leading contributors.

Orthostatic intolerance and chronic fatigue syndrome associated with Ehlers-Danlos syndrome.

PubMed

Rowe, P C; Barron, D F; Calkins, H; Maumenee, I H; Tong, P Y; Geraghty, M T

1999-10-01

To report chronic fatigue syndrome (CFS) associated with both Ehlers-Danlos syndrome (EDS) and orthostatic intolerance. Case series of adolescents referred to a tertiary clinic for the evaluation of CFS. All subjects had 2-dimensional echocardiography, tests of orthostatic tolerance, and examinations by both a geneticist and an ophthalmologist. Twelve patients (11 female), median age 15.5 years, met diagnostic criteria for CFS and EDS, and all had either postural tachycardia or neurally mediated hypotension in response to orthostatic stress. Six had classical-type EDS and 6 had hypermobile-type EDS. Among patients with CFS and orthostatic intolerance, a subset also has EDS. We propose that the occurrence of these syndromes together can be attributed to the abnormal connective tissue in dependent blood vessels of those with EDS, which permits veins to distend excessively in response to ordinary hydrostatic pressures. This in turn leads to increased venous pooling and its hemodynamic and symptomatic consequences. These observations suggest that a careful search for hypermobility and connective tissue abnormalities should be part of the evaluation of patients with CFS and orthostatic intolerance syndromes.

Red ear syndrome precipitated by a dietary trigger: a case report

PubMed Central

2014-01-01

Introduction Red ear syndrome is a rare condition characterized by episodic attacks of erythema of the ear accompanied by burning ear pain. Symptoms are brought on by touch, exertion, heat or cold, stress, neck movements and washing or brushing of hair. Diagnosis and treatment of this condition are challenging. The case we report here involves a woman whose symptoms were brought on by a dietary trigger: orange juice as well as stress, causing significant physical and psychological morbidity. Avoidance of triggers resulted in symptomatic improvement. Case presentation A 22-year-old Caucasian woman who was a student presented twice to our department with evolving symptoms, the first time with hyperacusis (abnormal sound sensitivity arising from within the auditory system to sounds of moderate volume), intermittent right tinnitus and subjective hearing difficulties. She presented five years later with highly distressing episodes of erythematous ears, which were associated with burning pain around the ear and temporal areas, and intolerance to noise. After keeping a symptom diary, she identified orange juice and stress as triggers of her symptoms. No local head and neck pathology was present. Investigations and imaging were negative. Avoidance of triggers led to great symptomatic improvement. To the best of our knowledge, dietary triggers have not previously been reported as a trigger for this syndrome. This case shows a direct temporal link to a dietary trigger and supports a primary pathogenesis. Recognition and management of primary headache disorder and simple dietary and lifestyle changes brought about symptomatic relief. Conclusion Red ear syndrome is a little-known clinical syndrome of unknown etiology and management. To the best of our knowledge, our present case report is the first to describe primary red ear syndrome triggered by orange juice. Clinical benefit derived from avoidance of this trigger, which is already known to precipitate migraines, gives some

Is everything clear about Tako-tsubo syndrome?

PubMed

Petrov, Ivo S; Tokmakova, Mariya P; Marchov, Daniel N; Kichukov, Kostadin N

2011-01-01

Tako-tsubo syndrome is a novel cardio-vascular disease affecting predominantly postmenopausal women exposed to unexpected strong emotional or physical stress, in the absence of significant coronary heart disease. It is characterized by acute onset of severe chest pain and/or acute left ventricular failure, ECG-changes, typical left ventricular angiographic findings, good prognosis and positive resolution of the morphological and clinical manifestations. First described in 1990 in Japan by Sato, Tako-tsubo cardiomyopathy is characterized by transient contractile abnormalities of the left ventricle, causing typical left ventricular apical ballooning at end-systole with concomitant compensatory basal hyperkinesia. There are also atypical forms, presenting with left ventricular systolic dysfunction which affects the mid-portions of the left ventricle. The etiology of the disease still remains unclear. Many theories have been put forward about the potential underlying pathophysiological mechanisms that may trigger this syndrome among which are the theory of catecholamine excess, the theory of multivessel coronary vasospasm, the ischemic theory, and the theory of microvascular dysfunction and dynamic left ventricular gradient induced by elevated circulating catecholamine levels. Adequate management of Tako-tsubo syndrome demands immediate preparation for coronary angiography. Once the diagnosis is made, treatment is primarily symptomatic and includes monitoring for complications. Patients with Tako-tsubo syndrome most frequently develop acute LV failure, pulmonary edema, rhythm and conductive disturbances and apical thrombosis. Treatment is symptomatic and includes administration of diuretics, vasodilators and mechanical support of circulation with intra-aortic balloon counterpulsation.

The relation between Bulimic symptoms and the social withdrawal syndrome during early adolescence.

PubMed

Rotenberg, Ken J; Sangha, Rajvir

2015-12-01

The short-term longitudinal study tested the hypothesis that there was a prospective relation between the social withdrawal syndrome and Bulimic symptoms during early adolescence. Ninety-six adolescents (47 males, mean age=13 years - 10 months) completed standardized scales assessing Bulimic symptoms, trust beliefs in others and loneliness at Time 1/T1 and again 5 months later at Time 2/T2. Analyses showed that: (1) Bulimic symptoms were negatively correlated with trust beliefs, (2) Bulimic symptoms were positively correlated with loneliness, and (3) trust beliefs were negatively correlated with loneliness. The SEM and mediation analyses showed that trust beliefs at T1 were negatively and concurrently associated with Bulimic symptoms at T1 and longitudinally (and negatively) predicted changes in Bulimic symptoms. It was found that loneliness at T1 statistically mediated those concurrent and longitudinal relations. The findings yielded support for the conclusion that the social withdrawal syndrome, as assessed by low trust beliefs and resulting experiences of loneliness, contributes to Bulimia nervosa during early adolescence. Copyright © 2015 Elsevier Ltd. All rights reserved.

A Rare Case of Acute Coronary Syndrome in a Patient With Turner Syndrome.

PubMed

Kemaloglu, Tugba; Ozer, Nihat; Fikri Yapici, Mehmet

2016-05-01

In Turner syndrome, cardiovascular complications are the most important causes of early mortality. Congenital cardiovascular abnormalities are found in approximately one third of Turner syndrome patients. Developments in diagnosis and treatment have decreased the rate of mortality related to these abnormalities. In recent years, many papers have mentioned that coronary artery disease developing at early ages in patients with Turner syndrome causes sudden deaths. The patient, a 27-year-old female was admitted to the emergency room with chest pain at rest. She was diagnosed with Turner Syndrome in her teenage years due to amenorrhea. Patients with ECG changes and cardiac enzyme elevations were treated with acute coronary syndrome. The young woman with Turner Syndrome have several risk factors for early Coronary Artery Disease development. In such cases, dramatic results like sudden death or heart attack at an early age may occur in cases of insufficient follow-up and treatment.

Infants Born with Down Syndrome: Burden of Disease in the Early Neonatal Period.

PubMed

Martin, Therese; Smith, Aisling; Breatnach, Colm R; Kent, Etaoin; Shanahan, Ita; Boyle, Michael; Levy, Phillip T; Franklin, Orla; El-Khuffash, Afif

2018-02-01

To evaluate the incidence of direct admission of infants with Down syndrome to the postnatal ward (well newborn nursery) vs the neonatal intensive care unit (NICU), and to describe the incidence of congenital heart disease (CHD) and pulmonary hypertension (PH). This retrospective cohort study of Down syndrome used the maternal/infant database (2011-2016) at the Rotunda Hospital in Dublin, Ireland. Admission location, early neonatal morbidities, outcomes, and duration of stay were evaluated and regression analyses were conducted to identify risk factors associated with morbidity and mortality. Of the 121 infants with Down syndrome, 54 (45%) were initially admitted to the postnatal ward, but 38 (70%) were later admitted to the NICU. Low oxygen saturation profile was the most common cause for the initial and subsequent admission to the NICU. Sixty-six percent of the infants (80/121) had CHD, 34% (41/121) had PH, and 6% died. Risk factors independently associated with primary NICU admission included antenatal diagnosis of Down syndrome, presence of CHD, PH, and the need for ventilation. Infants with Down syndrome initially admitted to the postnatal ward have a high likelihood of requiring NICU admission. Overall, high rates of neonatal morbidity were noted, including rates of PH that were higher than previously reported. Proper screening of all infants with Down syndrome for CHD and PH is recommended to facilitate timely diagnoses and potentially shorten the duration of the hospital stay. Copyright © 2017 Elsevier Inc. All rights reserved.

Inability to have children caused by recurrent HELLP syndrome in early pregnancies - implications for a review of literature.

PubMed

Pawelec, Małgorzata; Karmowski, Andrzej; Karmowski, Mikołaj; Krzemieniewska, Joanna; Kulczycka, Aleksandra; Gabryś, Marian Stanisław; Koryś, Jerzy; Gworys, Bohdan

2013-01-01

This review is inspired by a case of two pregnancies of the same patient complicated by HELLP syndrome, which suggests that there is a predisposition for the occurrence of preeclampsia and HELLP syndrome in early pregnancy. HELLP syndrome, uncommon below the 20th week and rarer still in two consecutive pregnancies, appeared in two pregnancies of the same woman. The aim of our work is to try to understand the cause of heterogeneity of HELLP syndrome and help find a way of prolonging such pregnancies. Recurrent HELLP syndrome in early pregnancy is a form of severe, fulminant preeclampsia. The preceding symptom is a surge in blood pressure. The hypertension becomes resistant to antihypertensive drugs, which indicates that preexisting hypertension is later accompanied by other factors contributing to the rise in blood pressure. Different effects of high dosage of corticosteroids on liver and platelets show that there are different factors responsible for liver damage and for thrombocytopenia. It seems that the symptoms have various origins, so the therapy with one drug only is not sufficiently effective. Nicotine analogues or a plant extract (from rootstock of Eriosema kraussianum) used by South African traditional healers for erectile dysfunction seem to give a chance of prolonging pregnancy and, consequently, having children.

Symptomatic treatment of the common cold with a fixed-dose combination of paracetamol, chlorphenamine and phenylephrine: a randomized, placebo-controlled trial.

PubMed

Picon, Paulo Dornelles; Costa, Marisa Boff; da Veiga Picon, Rafael; Fendt, Lucia Costa Cabral; Suksteris, Maurício Leichter; Saccilotto, Indara Carmanim; Dornelles, Alicia Dorneles; Schmidt, Luis Felipe Carissimi

2013-11-22

The common cold and other viral airway infections are highly prevalent in the population, and their treatment often requires the use of medications for symptomatic relief. Paracetamol is as an analgesic and antipyretic; chlorphenamine is an antihistamine; and phenylephrine, a vasoconstrictor and decongestant. This randomized, double-blind, placebo-controlled trial sought to evaluate the efficacy and safety of a fixed-dose combination of paracetamol, chlorphenamine and phenylephrine in the symptomatic treatment of the common cold and flu-like syndrome in adults. This study enrolled 146 individuals aged 18 to 60 years who had moderate to severe flu-like syndrome or common cold. After clinical examination and laboratory tests, individuals were randomly assigned to receive the fixed-dose combination (73) or placebo (73), five capsules per day for 48 to 72 hours. The primary efficacy endpoint was the sum of the scores of 10 symptoms on a four-point Likert-type scale. To evaluate treatment safety, the occurrence of adverse events was also measured. Mean age was 33.5 (±9.5) years in the placebo group and 33.8 (±11.5) in the treatment group. There were 55 women and 18 men in the placebo group, and 46 women and 27 men in the treatment group. Comparison of overall symptom scores in the two groups revealed a significantly greater reduction in the treatment group than in the placebo group (p = 0.015). Analysis at the first 13 dose intervals (± 66 h of treatment) showed a greater reduction of symptom scores in the treatment group than in the placebo group (p < 0.05). The number and distribution of adverse events were similar in both groups. A fixed-dose combination of paracetamol, chlorphenamine and phenylephrine was safe and more effective than placebo in the symptomatic treatment of the common cold or flu-like syndrome in adults. NCT01389518.

Symptomatic treatment of the common cold with a fixed-dose combination of paracetamol, chlorphenamine and phenylephrine: a randomized, placebo-controlled trial

PubMed Central

2013-01-01

Background The common cold and other viral airway infections are highly prevalent in the population, and their treatment often requires the use of medications for symptomatic relief. Paracetamol is as an analgesic and antipyretic; chlorphenamine is an antihistamine; and phenylephrine, a vasoconstrictor and decongestant. This randomized, double-blind, placebo-controlled trial sought to evaluate the efficacy and safety of a fixed-dose combination of paracetamol, chlorphenamine and phenylephrine in the symptomatic treatment of the common cold and flu-like syndrome in adults. Methods This study enrolled 146 individuals aged 18 to 60 years who had moderate to severe flu-like syndrome or common cold. After clinical examination and laboratory tests, individuals were randomly assigned to receive the fixed-dose combination (73) or placebo (73), five capsules per day for 48 to 72 hours. The primary efficacy endpoint was the sum of the scores of 10 symptoms on a four-point Likert-type scale. To evaluate treatment safety, the occurrence of adverse events was also measured. Results Mean age was 33.5 (±9.5) years in the placebo group and 33.8 (±11.5) in the treatment group. There were 55 women and 18 men in the placebo group, and 46 women and 27 men in the treatment group. Comparison of overall symptom scores in the two groups revealed a significantly greater reduction in the treatment group than in the placebo group (p = 0.015). Analysis at the first 13 dose intervals (± 66 h of treatment) showed a greater reduction of symptom scores in the treatment group than in the placebo group (p < 0.05). The number and distribution of adverse events were similar in both groups. Conclusion A fixed-dose combination of paracetamol, chlorphenamine and phenylephrine was safe and more effective than placebo in the symptomatic treatment of the common cold or flu-like syndrome in adults. Trial registration NCT01389518 PMID:24261438

Functional Recovery in Major Depressive Disorder: Focus on Early Optimized Treatment.

PubMed

Habert, Jeffrey; Katzman, Martin A; Oluboka, Oloruntoba J; McIntyre, Roger S; McIntosh, Diane; MacQueen, Glenda M; Khullar, Atul; Milev, Roumen V; Kjernisted, Kevin D; Chokka, Pratap R; Kennedy, Sidney H

2016-09-01

This article presents the case that a more rapid, individualized approach to treating major depressive disorder (MDD) may increase the likelihood of achieving full symptomatic and functional recovery for individual patients and that studies show it is possible to make earlier decisions about appropriateness of treatment in order to rapidly optimize that treatment. A PubMed search was conducted using terms including major depressive disorder, early improvement, predictor, duration of untreated illness, and function. English-language articles published before September 2015 were included. Additional studies were found within identified research articles and reviews. Thirty antidepressant studies reporting predictor criteria and outcome measures are included in this review. Studies were reviewed to extract definitions of predictors, outcome measures, and results of the predictor analysis. Results were summarized separately for studies reporting effects of early improvement, baseline characteristics, and duration of untreated depression. Shorter duration of the current depressive episode and duration of untreated depression are associated with better symptomatic and functional outcomes in MDD. Early improvement of depressive symptoms predicts positive symptomatic outcomes (response and remission), and early functional improvement predicts an increased likelihood of functional remission. The approach to treatment of depression that exhibits the greatest potential for achieving full symptomatic and functional recovery is early optimized treatment: early diagnosis followed by rapid individualized treatment. Monitoring symptoms and function early in treatment is crucial to ensuring that patients do not remain on ineffective or poorly tolerated treatment, which may delay recovery and heighten the risk of residual functional deficits. © Copyright 2016 Physicians Postgraduate Press, Inc.

Variants of Brugada Syndrome and Early Repolarization Syndrome: An Expanded Concept of J-Wave Syndrome.

PubMed

Kim, Sung-Hwan; Nam, Gi-Byoung; Yun, Sung-Cheol; Choi, Hyung Oh; Choi, Kee-Joon; Joung, Boyoung; Pak, Hui-Nam; Lee, Moon-Hyoung; Kim, Sung Soon; Park, Seung-Jung; On, Young Keun; Kim, June Soo; Oh, Il-Young; Choi, Eue-Keun; Oh, Seil; Choi, Yun-Shik; Choi, Jong Il; Park, Sang Weon; Kim, Young-Hoon; Oh, Yong-Seog; Lee, Man Young; Lim, Hong Euy; Lee, Young-Soo; Cho, Yongkeun; Kim, Jun; Rhee, Kyoung-Suk; Lee, Dong-Il; Cho, Dae Kyoung; Kim, You-Ho

2017-02-01

The role of J-waves in the pathogenesis of ventricular fibrillation (VF) occurring in structurally normal hearts is important. We evaluated 127 patients who received an implantable cardioverter-defibrillator (ICD) for Brugada syndrome (BS, n = 53), early repolarization syndrome (ERS, n = 24), and patients with unknown or deferred diagnosis (n = 50). Electrocardiography (ECG), clinical characteristics, and ICD data were analyzed. J-waves were found in 27/50 patients with VF of unknown/deferred diagnosis. The J-waves were reminiscent of those seen in BS or ERS, and this subgroup of patients was termed variants of ERS and BS (VEB). In 12 VEB patients, the J/ST/T-wave morphology was coved, although amplitudes were <0.2 mV. In 15 patients, noncoved-type J/ST/T-waves were present in the right precordial leads. In the remaining 23 patients, no J-waves were identified. VEB patients exhibited clinical characteristics similar to those of BS and ERS patients. Phenotypic transition and overlap were observed among patients with BS, ERS, and VEB. Twelve patients with BS had background inferolateral ER, while five ERS patients showed prominent right precordial J-waves. Patients with this transient phenotype overlap showed a significantly lower shock-free survival than the rest of the study patients. VEB patients demonstrate ECG phenotype similar to but distinct from those of BS and ERS. The spectral nature of J-wave morphology/distribution and phenotypic transition/overlap suggest a common pathophysiologic background in patients with VEB, BS, and ERS. Prognostic implication of these ECG variations requires further investigation. © 2016 Wiley Periodicals, Inc.

Water T2 as an early, global and practical biomarker for metabolic syndrome: an observational cross-sectional study.

PubMed

Robinson, Michelle D; Mishra, Ina; Deodhar, Sneha; Patel, Vipulkumar; Gordon, Katrina V; Vintimilla, Raul; Brown, Kim; Johnson, Leigh; O'Bryant, Sid; Cistola, David P

2017-12-19

Metabolic syndrome (MetS) is a highly prevalent condition that identifies individuals at risk for type 2 diabetes mellitus and atherosclerotic cardiovascular disease. Prevention of these diseases relies on early detection and intervention in order to preserve pancreatic β-cells and arterial wall integrity. Yet, the clinical criteria for MetS are insensitive to the early-stage insulin resistance, inflammation, cholesterol and clotting factor abnormalities that characterize the progression toward type 2 diabetes and atherosclerosis. Here we report the discovery and initial characterization of an atypical new biomarker that detects these early conditions with just one measurement. Water T 2 , measured in a few minutes using benchtop nuclear magnetic resonance relaxometry, is exquisitely sensitive to metabolic shifts in the blood proteome. In an observational cross-sectional study of 72 non-diabetic human subjects, the association of plasma and serum water T 2 values with over 130 blood biomarkers was analyzed using bivariate, multivariate and logistic regression. Plasma and serum water T 2 exhibited strong bivariate correlations with markers of insulin, lipids, inflammation, coagulation and electrolyte balance. After correcting for confounders, low water T 2 values were independently and additively associated with fasting hyperinsulinemia, dyslipidemia and subclinical inflammation. Plasma water T 2 exhibited 100% sensitivity and 87% specificity for detecting early insulin resistance in normoglycemic subjects, as defined by the McAuley Index. Sixteen normoglycemic subjects with early metabolic abnormalities (22% of the study population) were identified by low water T 2 values. Thirteen of the 16 did not meet the harmonized clinical criteria for metabolic syndrome and would have been missed by conventional screening for diabetes risk. Low water T 2 values were associated with increases in the mean concentrations of 6 of the 16 most abundant acute phase proteins and

Ritonavir and Topical Ocular Corticosteroid Induced Cushing's Syndrome in an Adolescent With HIV-1 Infection.

PubMed

Rainsbury, Paul G; Sharp, Jessica; Tappin, Alison; Hussey, Martin; Lenko, Alexandra; Foster, Caroline

2017-05-01

Cushing's syndrome after topical ocular corticosteroid use is extremely rare. We describe a case of symptomatic Cushing's syndrome in an adolescent male with sight-threatening vernal keratoconjunctivitis on antiretroviral therapy for HIV-1 infection that included ritonavir, a potent cytochrome p450 CYP3A4 inhibitor. CYP3A4 inhibition reduces the metabolism of exogenous corticosteroids leading to suppression of endogenous steroid production and Cushing's syndrome.

Pathological changes in the subsynovial connective tissue increase with self-reported carpal tunnel syndrome symptoms.

PubMed

Tat, Jimmy; Wilson, Katherine E; Keir, Peter J

2015-05-01

Fibrosis and thickening of the subysnovial connective tissue are the most common pathological findings in carpal tunnel syndrome. The relationship between subsynovial connective tissue characteristics and self-reported carpal tunnel syndrome symptoms was assessed. Symptoms were characterized using the Boston Carpal Tunnel Questionnaire and Katz hand diagram in twenty-two participants (11 with symptoms, 11 with no symptoms). Using ultrasound, the thickness of the subsynovial connective tissue was measured using a thickness ratio (subsynovial thickness/tendon thickness) and gliding function was assessed using a shear strain index ((Displacement(tendon)-Displacement(subsynovial))/Displacement(tendon)x 100). For gliding function, participants performed 10 repeated flexion-extension cycles of the middle finger at a rate of one cycle per second. Participants with symptoms had a 38.5% greater thickness ratio and 39.2% greater shear strain index compared to participants without symptoms (p<0.05). Ultrasound detected differences the SSCT in symptomatic group that was characterized by low self-reported symptom severity scores. This study found ultrasound useful for measuring structural and functional changes in the SSCT that could provide insight in the early pathophysiology associated with carpal tunnel syndrome symptoms. Copyright © 2015 Elsevier Ltd. All rights reserved.

Polycystic ovary syndrome and metabolic syndrome: the worrisome twosome?

PubMed

Shah, D; Rasool, S

2016-01-01

By virtue of insulin resistance being the common etiology for polycystic ovary syndrome (PCOS) and metabolic syndrome, the cardiometabolic risks of these two syndromes are shared. The usual concerns of a PCOS patient are cosmetic or reproductive. However, there are more serious concerns past the reproductive age. Early treatment of insulin resistance, hypertension and hyperlipidemia reduces the long-term risk. This review highlights the unhealthy association of metabolic syndrome with PCOS and emphasizes the importance of early diagnosis, patient education and long-term follow-up beyond the reproductive age into menopause to prevent the long-term serious co-morbidities.

Exercise training improves in vivo endothelial repair capacity of early endothelial progenitor cells in subjects with metabolic syndrome.

PubMed

Sonnenschein, Kristina; Horváth, Tibor; Mueller, Maja; Markowski, Andrea; Siegmund, Tina; Jacob, Christian; Drexler, Helmut; Landmesser, Ulf

2011-06-01

Endothelial dysfunction and injury are considered to contribute considerably to the development and progression of atherosclerosis. It has been suggested that intense exercise training can increase the number and angiogenic properties of early endothelial progenitor cells (EPCs). However, whether exercise training stimulates the capacity of early EPCs to promote repair of endothelial damage and potential underlying mechanisms remain to be determined. The present study was designed to evaluate the effects of moderate exercise training on in vivo endothelial repair capacity of early EPCs, and their nitric oxide and superoxide production as characterized by electron spin resonance spectroscopy analysis in subjects with metabolic syndrome. Twenty-four subjects with metabolic syndrome were randomized to an 8 weeks exercise training or a control group. Superoxide production and nitric oxide (NO) availability of early EPCs were characterized by using electron spin resonance (ESR) spectroscopy analysis. In vivo endothelial repair capacity of EPCs was examined by transplantation into nude mice with defined carotid endothelial injury. Endothelium-dependent, flow-mediated vasodilation was analysed using high-resolution ultrasound. Importantly, exercise training resulted in a substantially improved in vivo endothelial repair capacity of early EPCs (24.0 vs 12.7%; p < 0.05) and improved endothelium-dependent vasodilation. Nitric oxide production of EPCs was substantially increased after exercise training, but not in the control group. Moreover, exercise training reduced superoxide production of EPCs, which was not observed in the control group. The present study suggests for the first time that moderate exercise training increases nitric oxide production of early endothelial progenitor cells and reduces their superoxide production. Importantly, this is associated with a marked beneficial effect on the in vivo endothelial repair capacity of early EPCs in subjects with

The Transition between the Phenotypes of Prader-Willi Syndrome during Infancy and Early Childhood

ERIC Educational Resources Information Center

Butler, Jill V.; Whittington, Joyce E.; Holland, Anthony J.; McAllister, Catherine J.; Goldstone, Anthony P

2010-01-01

Aim: Prader-Willi syndrome (PWS) is a genetic disorder historically characterized by two phenotypic stages. The early phenotype in infants is associated with hypotonia, poor suck, and failure to thrive. In later childhood, PWS is associated with intellectual disability, hyperphagia, as well as growth and sex hormone deficiency. Little is known…

Effect of letrozole on moderate and severe early-onset ovarian hyperstimulation syndrome in high-risk women: a prospective randomized trial.

PubMed

Mai, Qingyun; Hu, Xiaokun; Yang, Gang; Luo, Yingyi; Huang, Kejun; Yuan, Yuan; Zhou, Canquan

2017-01-01

Ovarian hyperstimulation syndrome is an iatrogenic complication of controlled ovarian stimulation. Early ovarian hyperstimulation syndrome occurs during luteal phase of controlled ovarian stimulation within 9 days after human chorionic gonadotropin trigger and reflects an acute consequence of this hormone on the ovaries. Late ovarian hyperstimulation syndrome occurs 10 or more days after human chorionic gonadotropin trigger and reflects increased endogenous human chorionic gonadotropin levels following pregnancy. Human chorionic gonadotropin stimulates granulosa-lutein cells to produce vascular endothelial growth factor messenger RNAs, which in turn raises serum vascular endothelial growth factor concentration and increases vascular permeability in women with ovarian hyperstimulation syndrome. Efforts to reduce the incidence and severity of ovarian hyperstimulation syndrome after oocyte retrieval, and in particular primary prevention efforts, are vital to prevent thrombogenesis and other serious complications. The objective of the study was to compare the efficacy of letrozole, an aromatase inhibitor, with aspirin in primary prevention of early ovarian hyperstimulation syndrome and to compare vascular endothelial growth factor levels between groups. Participants in this prospective randomized trial included 238 participants undergoing cryopreservation of the whole embryos after oocyte retrieval with at least 1 of the following high-risk factors for ovarian hyperstimulation syndrome: oocyte retrieval ≥25; estradiol level ≥5000 pg/mL on the day of human chorionic gonadotropin administration; and clinical or ultrasonographic evidence of ovarian hyperstimulation syndrome on the day of oocyte retrieval, such as ultrasonographic evidence of ascites. After human chorionic gonadotropin triggering, experimental (119 cases) and control (119 cases) groups received letrozole and aspirin, respectively, for 5 days. The 5 categories of ovarian hyperstimulation syndrome

A case of Gorlin-Goltz syndrome presented with psychiatric features.

PubMed

Mufaddel, Amir; Alsabousi, Mouza; Salih, Badr; Alhassani, Ghanem; Osman, Ossama T

2014-01-01

We report a case of a 34-year-old male who presented with an acute onset of pleomorphic psychiatric features. Upon examination we later diagnosed him with Gorlin-Goltz syndrome based on clinical and radiological findings that are characteristic for this rare autosomal dominant syndrome. His psychiatric manifestations included irritability, aggressive behavior, labile mood, hallucinations, paranoid delusions, and transient cognitive impairment. His past history indicated surgical excision of pigmented lesion in the left lower eyelid which turned out to be a basal cell carcinoma. His past visits to dermatology clinics indicated pitted keratosis involving hands, callosities, and seborrheic dermatitis. There were numerous palmar pits, and Brain CT Head scan revealed extensive calcification along falx cerebri and around the cerebellar vermis. He had low (20 ng/L) vitamin D level and high parathyroid hormone level. The patient improved using antipsychotic medications and vitamin D supplementations for symptomatic management and was discharged with a plan for multispecialty outpatient follow-up. This case highlights the importance of considering rare organic etiologies in the differential diagnosis of patients presenting with psychiatric symptoms. This is of vital importance for early intervention to prevent complications and for better outcomes of the coexistent diseases.

Paroxysmal ocular movements - an early sign in Glut1 deficiency Syndrome.

PubMed

Reis, Sofia; Matias, Joana; Machado, Raquel; Monteiro, José Paulo

2018-05-05

The authors describe a 3-year-old female, diagnosed with GLUT1 deficiency Syndrome, with a previously unreported mutation in exon 7 of the SLC2A1 gene: c.968_972 + 3del P. (Val323Alafs*53), characterized by a classic phenotypic of acquired microcephaly, developmental delay, ataxia, spasticity, and epilepsy. Ketogenic diet was started at the age of 30 months with epilepsy improvement. She presented paroxysmal ocular movements in the first 12 months of life, recently defined as "aberrant gaze saccades", that are present in the early phase of visual system development, being one of the first disease signs, but easily disregarded. Recognizing these particular ocular movements would allow an early diagnosis, followed by ketogenic diet implementation, improving significantly the prognosis and the neurological development of those children.

The effect of 'Candidatus Liberibacter asiaticus' infection on the proteomic profiles and nutritional status of pre-symptomatic and symptomatic grapefruit (Citrus paradisi) plants.

PubMed

Nwugo, Chika C; Lin, Hong; Duan, Yongping; Civerolo, Edwin L

2013-04-11

Huanglongbing (HLB) is a highly destructive citrus disease which threatens citrus production worldwide and 'Candidatus Liberibacter asiaticus' (Las), a non-culturable phloem-limited bacterium, is an associated causal agent of the disease. To better understand the physiological and molecular processes involved in host responses to Las, 2-DE and mass spectrometry analyses, as well as ICP spectroscopy analysis were employed to elucidate the global protein expression profiles and nutrient concentrations in leaves of Las-infected grapefruit plants at pre-symptomatic or symptomatic stages for HLB. This study identified 123 protein spots out of 191 spots that showed significant changes in the leaves of grapefruit plants in response to Las infection and all identified spots matched to 69 unique proteins/peptides. A down-regulation of 56 proteins including those associated with photosynthesis, protein synthesis, and metabolism was correlated with significant reductions in the concentrations of Ca, Mg, Fe, Zn, Mn, and Cu in leaves of grapefruit plants in response to Las infection, particularly in symptomatic plants. Oxygen-evolving enhancer (OEE) proteins, a PSI 9 kDa protein, and a Btf3-like protein were among a small group of proteins that were down-regulated in both pre-symptomatic and symptomatic plants in response to Las infection. Furthermore, a Las-mediated up-regulation of 13 grapefruit proteins was detected, which included Cu/Zn superoxide dismutase, chitinases, lectin-related proteins, miraculin-like proteins, peroxiredoxins and a CAP 160 protein. Interestingly, a Las-mediated up-regulation of granule-bound starch synthase was correlated with an increase in the K concentrations of pre-symptomatic and symptomatic plants. This study constitutes the first attempt to characterize the interrelationships between protein expression and nutritional status of Las-infected pre-symptomatic or symptomatic grapefruit plants and sheds light on the physiological and molecular

Refeeding syndrome in a small-for-dates micro-preemie receiving early parenteral nutrition.

PubMed

Mizumoto, Hiroshi; Mikami, Masamitsu; Oda, Hirotsugu; Hata, Daisuke

2012-10-01

This report describes a small-for-date extremely low birth weight infant who manifested bradycardic events, respiratory failure, and hemolytic jaundice during her first week of life. These complications were attributed to severe hypophosphatemia and hypokalemia. Inadequate supply and refeeding syndrome triggered by early aggressive parenteral nutrition were responsible for electrolyte abnormalities. © 2012 The Authors. Pediatrics International © 2012 Japan Pediatric Society.

One-Hour PTH after Thyroidectomy Predicts Symptomatic Hypocalcemia

PubMed Central

Nocon, Cheryl; Nagar, Sapna; Kaplan, Edwin L.; Angelos, Peter; Grogan, Raymon H.

2015-01-01

Background A major morbidity following total thyroidectomy is hypocalcemia. While many clinical factors and laboratory studies have been correlated with both biochemical and symptomatic hypocalcemia, the ideal use and timing of these tests the remains unclear. We hypothesize one-hour (PACU) PTH will identify patients at risk for symptomatic hypocalcemia. Methods This prospective study evaluated 196 patients undergoing total thyroidectomy. Serum calcium and PTH levels were measured one hour after surgery and on postoperative day 1 (POD1). Performance of a central compartment lymph node dissection, parathyroid autotransplantation, indication for procedure, pathology, and presence of parathyroid tissue in the pathology specimen were recorded. Results Of 196 patients, 9 (4.6%) developed symptomatic hypocalcemia. 34 (17.3%) had a 1-hour PACU PTH ≤ 10 pg/dL while 31 (15.8%) had a POD1 PTH of ≤ 10. Five (56%) of the nine symptomatic patients underwent central compartment lymph node dissection, 4 (44%) had parathyroid autotransplantation and 4 (44%) had a PACU PTH ≤10. PACU and POD1 PTH levels were correlated (R2=0.682). Multivariate regression identified central compartment dissection, autotransplantation, and PACU or POD1 PTH correlated with symptomatic hypocalcemia. PACU PTH, POD1 PTH, PACU Ca, malignant final pathology, and Age ≤ 45 years correlated with biochemical hypocalcemia. Conclusion 1-hour postoperative PACU PTH is equivalent to POD1 PTH in predicting the development of symptomatic hypocalcemia. Biochemical hypocalcemia was not predictive of symptoms in the immediate post-operative period. Lymph node dissection and parathyroid autotransplantation correlated with symptomatic hypocalcemia and improve the sensitivity of biochemical screening alone. PMID:27020834

One-hour PTH after thyroidectomy predicts symptomatic hypocalcemia.

PubMed

White, Michael G; James, Benjamin C; Nocon, Cheryl; Nagar, Sapna; Kaplan, Edwin L; Angelos, Peter; Grogan, Raymon H

2016-04-01

A major morbidity after total thyroidectomy is hypocalcemia. Although many clinical factors and laboratory studies have been correlated with both biochemical and symptomatic hypocalcemia, the ideal use and timing of these tests remain unclear. We hypothesize 1-h (PACU) parathyroid hormone (PTH) will identify patients at risk for symptomatic hypocalcemia. This prospective study evaluated 196 patients undergoing total thyroidectomy. Serum calcium and PTH levels were measured 1 h after surgery and on postoperative day 1 (POD1). Performance of a central compartment lymph node dissection, parathyroid autotransplantation, indication for procedure, pathology, and presence of parathyroid tissue in the pathology specimen were recorded. Of 196 patients, nine (4.6%) developed symptomatic hypocalcemia. Thirty four (17.3%) had a 1-h PACU PTH ≤10 pg/dL, whereas 31 (15.8%) had a POD1 PTH of ≤10. Five (56%) of the nine symptomatic patients underwent central compartment lymph node dissection, four (44%) had parathyroid autotransplantation, and four (44%) had a PACU PTH ≤10. PACU and POD1 PTH levels were correlated (R(2) = 0.682). Multivariate regression identified central compartment dissection, autotransplantation, and PACU or POD1 PTH correlated with symptomatic hypocalcemia. PACU PTH, POD1 PTH, PACU Ca, malignant final pathology, and age ≤45 y correlated with biochemical hypocalcemia. A 1-h postoperative PACU PTH is equivalent to POD1 PTH in predicting the development of symptomatic hypocalcemia. Biochemical hypocalcemia was not predictive of symptoms in the immediate postoperative period. Lymph node dissection and parathyroid autotransplantation correlated with symptomatic hypocalcemia and improve the sensitivity of biochemical screening alone. Copyright © 2016 Elsevier Inc. All rights reserved.

Alternative treatment of symptomatic pancreatic fistula.

PubMed

Wiltberger, Georg; Schmelzle, Moritz; Tautenhahn, Hans-Michael; Krenzien, Felix; Atanasov, Georgi; Hau, Hans-Michael; Moche, Michael; Jonas, Sven

2015-06-01

The management of symptomatic pancreatic fistula after pancreaticoduodenectomy is complex and associated with increased morbidity and mortality. We here report continuous irrigation and drainage of the pancreatic remnant to be a feasible and safe alternative to total pancreatectomy. Between 2005 and 2011, patients were analyzed, in which pancreaticojejunal anastomosis was disconnected because of grade C fistula, and catheters for continuous irrigation and drainage were placed close to the pancreatic remnant. Clinical data were monitored and quality of life was evaluated. A total of 13 of 202 patients undergoing pancreaticoduodenectomy required reoperation due to symptomatic pancreatic fistula. Ninety-day mortality of these patients was 15.3%. Median length of stay on the intensive care unit and total length of stay was 18 d (range 3-45) and 46 d (range 33-96), respectively. Patients with early reoperation (<10 d) had significantly decreased length of stay on the intensive care unit and operation time (P < 0.05). Global health status after a median time of 22 mo (range 6-66) was nearly identical, when compared with that of a healthy control group. Mean follow-up was 44.4 mo (±27.2). Four patients (36.6 %) died during the follow-up period; two patients from tumor recurrence, one patient from pneumonia, and one patient for unknown reasons. Treatment of pancreatic fistula by continuous irrigation and drainage of the preserved pancreatic remnant is a simple and feasible alternative to total pancreatectomy. This technique maintains a sufficient endocrine function and is associated with low mortality and reasonable quality of life. Copyright © 2015 Elsevier Inc. All rights reserved.

Symptomatic thoracic spinal cord herniation: case series and technical report.

PubMed

Hawasli, Ammar H; Ray, Wilson Z; Wright, Neill M

2014-09-01

Idiopathic spinal cord herniation (ISCH) is an uncommon condition located predominantly in the thoracic spine and often associated with a remote history of a major traumatic injury. ISCH has an incompletely described presentation and unknown etiology. There is no consensus on the treatment algorithm and surgical technique, and there are few data on clinical outcomes. In this case series and technical report, we describe the atypical myelopathy presentation, remote history of traumatic injury, radiographic progression, treatment, and outcomes of 5 patients treated at Washington University for symptomatic ISCH. A video showing surgical repair is presented. In contrast to classic compressive myelopathy symptomatology, ISCH patients presented with an atypical myelopathy, characterized by asymmetric motor and sensory deficits and early-onset urinary incontinence. Clinical deterioration correlated with progressive spinal cord displacement and herniation observed on yearly spinal imaging in a patient imaged serially because of multiple sclerosis. Finally, compared with compressive myelopathy in the thoracic spine, surgical treatment of ISCH led to rapid improvement despite a long duration of symptoms. Symptomatic ISCH presents with atypical myelopathy and slow temporal progression and can be successfully managed with surgical repair.

Symptomatic Thoracic Spinal Cord Herniation: Case Series and Technical Report

PubMed Central

Hawasli, Ammar H.; Ray, Wilson Z.; Wright, Neill M.

2014-01-01

Background and Importance Idiopathic spinal cord herniation (ISCH) is an uncommon condition located predominantly in the thoracic spine and often associated with a remote history of a major traumatic injury. ISCH has an incompletely described presentation and unknown etiology. There is no consensus on treatment algorithm and surgical technique, and there is little data on clinical outcomes. Clinical Presentation In this case series and technical report, we describe the atypical myelopathy presentation, remote history of traumatic injury, radiographic progression, treatment, and outcomes of 5 patients treated at Washington University for symptomatic ISCH. A video showing surgical repair is presented. In contrast to classic compressive myelopathy symptomology, ISCH patients presented with an atypical myelopathy, characterized by asymmetric motor and sensory deficits and early-onset urinary incontinence. Clinical deterioration correlated with progressive spinal cord displacement and herniation observed on yearly spinal imaging in a patient imaged serially due to multiple sclerosis. Finally compared to compressive myelopathy in the thoracic spine, surgical treatment of ISH led to rapid improvement despite long duration of symptoms. Conclusion Symptomatic ISCH presents with atypical myelopathy and slow temporal progression and can be successfully managed with surgical repair. PMID:24871148

Sticky eyelid syndrome.

PubMed

Kortvelesy, J Scott; Buerger, George F

2004-11-01

To report on patients seen with an unusual condition affecting the eyelids. The syndrome manifests as a temporary adhesion which forms between the upper and lower eyelid associated with laxity of the lower lid retractors. This results in a peculiar closure of the lids. Retrospective case reports. Charts of affected patients were reviewed for their clinical histories, examination findings, external photographs, and the results of treatment. Ten consecutive patients with the associated findings were reviewed. All cases were unilateral. Seven patients were Asian and three were Caucasian. Nine patients were symptomatic; of these, all were treated conservatively except for one who requested surgery. Two cases are described and photographs are shown. Lower eyelid retractor laxity combined with a temporary adhesion between the upper and lower lid results in the clinical findings of Sticky Eyelid Syndrome.

Symptomatic Spinal Epidural Lipomatosis After a Single Local Epidural Steroid Injection

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

Tok, Chung Hong, E-mail: rogertok@gmail.com; Kaur, Shaleen; Gangi, Afshin

Spinal epidural lipomatosis is a rare disorder that can manifest with progressive neurological deficits. It is characterized by abnormal accumulation of unencapsulated epidural fat commonly associated with the administration of exogenous steroids associated with a variety of systemic diseases, endocrinopathies, and Cushing syndrome (Fogel et al. Spine J 5:202-211, 2005). Occasionally, spinal epidural lipomatosis may occur in patients not exposed to steroids or in patients with endocrinopathies, primarily in obese individuals (Fogel et al. Spine J 5:202-211, 2005). However, spinal lumbar epidural lipomatosis resulting from local steroid injection has rarely been reported. We report the case of a 45-year-old diabeticmore » man with claudication that was probably due to symptomatic lumbar spinal lipomatosis resulting from a single local epidural steroid injection.« less

[Symptomatic hypocalcaemia on denosumab use].

PubMed

Baptista Lopes, Vania; Robbrecht, Debbie; van Thiel, Sjoerd; van Guldener, Coen

2013-01-01

Bone resorption inhibitors such as denosumab may induce symptomatic hypocalcaemia if a vitamin D deficiency is present. Amongst other causes, this type of deficiency may arise following bariatric surgery. We describe a 51-year-old woman who, a few years after undergoing bariatric surgery, developed symptomatic hypocalcaemia after she started taking denosumab. An adequate calcium and vitamin D status is a general condition before prescribing medication to treat osteoporosis. Therefore we recommend that before starting treatment with a bone resorption inhibitor that not only the calcium but also the vitamin D status should be determined, and if necessary, optimised.

Long-term results after endoscopic drainage and necrosectomy of symptomatic pancreatic fluid collections.

PubMed

Seewald, Stefan; Ang, Tiing Leong; Richter, Hugo; Teng, Karl Yu Kim; Zhong, Yan; Groth, Stefan; Omar, Salem; Soehendra, Nib

2012-01-01

To determine the immediate and long-term results of endoscopic drainage and necrosectomy for symptomatic pancreatic fluid collections. The data of 80 patients with symptomatic pancreatic fluid collections (mean diameter: 11.7 cm, range 3-20; pseudocysts: 24/80, abscess: 20/80, infected walled-off necrosis: 36/80) referred for endoscopic management from October 1997 to March 2008 were analyzed retrospectively. Endoscopic drainage techniques included endoscopic ultrasound (EUS)-guided aspiration (2/80), EUS-guided transenteric drainage (70/80) and non-EUS-guided drainage across a spontaneous transenteric fistula (8/80). Endoscopic necrosectomy was carried out in 49/80 (abscesses: 14/20; infected necrosis: 35/36). Procedural complications were bleeding (12/80), perforation (7/80), portal air embolism (1/80) and Ogilvie Syndrome (1/80). Initial technical success was achieved in 78/80 (97.5%) and clinical resolution of the collections was achieved endoscopically in 67/80 (83.8%), with surgery required in 13/80 (perforation: four; endoscopically inaccessible areas: two; inadequate drainage: seven). Within 6 months five patients required surgery due to recurrent fluid collections; over a mean follow up of 31 months, surgery was required in four more patients due to recurrent collections as a consequence of underlying pancreatic duct abnormalities that could not be treated endoscopically. The long-term success of endoscopic treatment was 58/80 (72.5%). Endoscopic drainage of symptomatic pancreatic fluid collections is safe and effective, with excellent immediate and long-term results. Endoscopic necrosectomy has a risk of serious complications. The underlying pancreatic duct abnormalities must be addressed to prevent recurrence of fluid collections. © 2011 The Authors. Digestive Endoscopy © 2011 Japan Gastroenterological Endoscopy Society.

Early Invasive Strategy and In-Hospital Survival Among Diabetics With Non-ST-Elevation Acute Coronary Syndromes: A Contemporary National Insight.

PubMed

Mahmoud, Ahmed N; Elgendy, Islam Y; Mansoor, Hend; Wen, Xuerong; Mojadidi, Mohammad K; Bavry, Anthony A; Anderson, R David

2017-03-18

There are limited data on the merits of an early invasive strategy in diabetics with non-ST-elevation acute coronary syndrome, with unclear influence of this strategy on survival. The aim of this study was to evaluate the in-hospital survival of diabetics with non-ST-elevation acute coronary syndrome treated with an early invasive strategy compared with an initial conservative strategy. The National Inpatient Sample database, years 2012-2013, was queried for diabetics with a primary diagnosis of non-ST-elevation acute coronary syndrome defined as either non-ST-elevation myocardial infarction or unstable angina (unstable angina). An early invasive strategy was defined as coronary angiography±revascularization within 48 hours of admission. Propensity scores were used to assemble a cohort managed with either an early invasive or initial conservative strategy balanced on >50 baseline characteristics and hospital presentations. Incidence of in-hospital mortality was compared in both groups. In a cohort of 363 500 diabetics with non-ST-elevation acute coronary syndrome, 164 740 (45.3%) were treated with an early invasive strategy. Propensity scoring matched 21 681 diabetics in both arms. Incidence of in-hospital mortality was lower with an early invasive strategy in both the unadjusted (2.0% vs 4.8%; odds ratio [OR], 0.41; 95% CI, 0.39-0.42; P <0.0001) and propensity-matched models (2.2% vs 3.8%; OR, 0.57; 95% CI, 0.50-0.63; P <0.0001). The benefit was observed across various subgroups, except for patients with unstable angina ( P interaction =0.02). An early invasive strategy may be associated with a lower incidence of in-hospital mortality in patients with diabetes. The benefit of this strategy appears to be superior in patients presenting with non-ST-elevation myocardial infarction compared with unstable angina. © 2017 The Authors. Published on behalf of the American Heart Association, Inc., by Wiley Blackwell.

Symptomatic pericardial effusion after chemoradiation therapy in esophageal cancer patients.

PubMed

Fukada, Junichi; Shigematsu, Naoyuki; Takeuchi, Hiroya; Ohashi, Toshio; Saikawa, Yoshiro; Takaishi, Hiromasa; Hanada, Takashi; Shiraishi, Yutaka; Kitagawa, Yuko; Fukuda, Keiichi

2013-11-01

We investigated clinical and treatment-related factors as predictors of symptomatic pericardial effusion in esophageal cancer patients after concurrent chemoradiation therapy. We reviewed 214 consecutive primary esophageal cancer patients treated with concurrent chemoradiation therapy between 2001 and 2010 in our institute. Pericardial effusion was detected on follow-up computed tomography. Symptomatic effusion was defined as effusion ≥grade 3 according to Common Terminology Criteria for Adverse Events v4.0 criteria. Percent volume irradiated with 5 to 65 Gy (V5-V65) and mean dose to the pericardium were evaluated employing dose-volume histograms. To evaluate dosimetry for patients treated with two-dimensional planning in the earlier period (2001-2005), computed tomography data at diagnosis were transferred to a treatment planning system to reconstruct three-dimensional plans without modification. Optimal dosimetric thresholds for symptomatic pericardial effusion were calculated by receiver operating characteristic curves. Associating clinical and treatment-related risk factors for symptomatic pericardial effusion were detected by univariate and multivariate analyses. The median follow-up was 29 (range, 6-121) months for eligible 167 patients. Symptomatic pericardial effusion was observed in 14 (8.4%) patients. Dosimetric analyses revealed average values of V30 to V45 for the pericardium and mean pericardial doses were significantly higher in patients with symptomatic pericardial effusion than in those with asymptomatic pericardial effusion (P<.05). Pericardial V5 to V55 and mean pericardial doses were significantly higher in patients with symptomatic pericardial effusion than in those without pericardial effusion (P<.001). Mean pericardial doses of 36.5 Gy and V45 of 58% were selected as optimal cutoff values for predicting symptomatic pericardial effusion. Multivariate analysis identified mean pericardial dose as the strongest risk factor for symptomatic

Early suppression of adipocyte lipid turnover induces immunometabolic modulation in cancer cachexia syndrome.

PubMed

Henriques, Felipe Santos; Sertié, Rogério Antônio Laurato; Franco, Felipe Oliveira; Knobl, Pamela; Neves, Rodrigo Xavier; Andreotti, Sandra; Lima, Fabio Bessa; Guilherme, Adilson; Seelaender, Marilia; Batista, Miguel Luiz

2017-05-01

Cancer cachexia is a multifactorial syndrome characterized by body weight loss, atrophy of adipose tissue (AT) and systemic inflammation. However, there is limited information regarding the mechanisms of immunometabolic response in AT from cancer cachexia. Male Wistar rats were inoculated with 2 × 10 7 of Walker 256 tumor cells [tumor bearing (TB) rats]. The mesenteric AT (MeAT) was collected on d 0, 4, 7 (early stage), and 14 (cachexia stage) after tumor cell injection. Surgical biopsies for MeAT were obtained from patients who had gastrointestinal cancer with cachexia. Lipolysis showed an early decrease in glycerol release in TB d 4 (TB4) rats in relation to the control, followed by a 6-fold increase in TB14 rats, whereas de novo lipogenesis was markedly lower in the incorporation of glucose into fatty acids in TB14 rats during the development of cachexia. CD11b and CD68 were positive in TB7 and TB14 rats, respectively. In addition, we found cachexia stage results similar to those of animals in MeAT from patients: an increased presence of CD68 + , iNOS2 + , TNFα + , and HSL + cells. In summary, translational analysis of MeAT from patients and an animal model of cancer cachexia enabled us to identify early disruption in Adl turnover and subsequent inflammatory response during the development of cancer cachexia.-Henriques, F. S., Sertié, R. A. L., Franco, F. O., Knobl, P., Neves, R. X., Andreotti, S., Lima, F. B., Guilherme, A., Seelaender, M., Batista, M. L., Jr. Early suppression of adipocyte lipid turnover induces immunometabolic modulation in cancer cachexia syndrome. © FASEB.

Breast cancer awareness and barriers to symptomatic presentation among women from different ethnic groups in East London

PubMed Central

Forbes, L J L; Atkins, L; Thurnham, A; Layburn, J; Haste, F; Ramirez, A J

2011-01-01

Background: During 2001 to 2005, 1-year breast cancer survival was low in ethnically diverse East London. We hypothesised that this was due to low breast cancer awareness and barriers to symptomatic presentation, leading to late stage at diagnosis in women from ethnic minorities. We examined ethnic differences in breast cancer awareness and barriers to symptomatic presentation in East London. Methods: We carried out a population-based survey of 1515 women aged 30+ using the Cancer Research UK Breast Cancer Awareness Measure. We analysed the data using logistic regression adjusting for age group and level of deprivation. Results: South Asian and black women had lower breast cancer awareness than white women. South Asian women, but not black women, reported more emotional barriers to seeking medical help than white women. White women were more likely than non-white women to report worry about wasting the doctor's time as a barrier to symptomatic presentation. Conclusion: Interventions to promote early presentation of breast cancer for South Asian and black women should promote knowledge of symptoms and skills to detect changes, and tackle emotional barriers to symptomatic presentation and for white women tackle the idea that going to the doctor to discuss a breast symptom will waste the doctor's time. PMID:21989188

Age related testosterone level changes and male andropause syndrome.

PubMed

Wu, C Y; Yu, T J; Chen, M J

2000-06-01

Much like the menopause syndrome occurring among older women, a similar condition has been defined among men. Testosterone production increases rapidly at the onset of puberty, then dwindles quickly after age 50 to become 20 to 50% of the peak level by age 80. Many men older than age 50 have experienced frailty syndrome, which includes decrease of libido, easy fatigue, mood disturbance, accelerated osteoporosis, and decreased muscle strength. We investigated serum total testosterone levels and andropause syndrome in men. Serum total testosterone levels were measured in 53 symptomatic men older than age 50 and in 48 men younger than age 40 for a control group. We also analyzed andropause symptoms among the 53 men older than age 50. The mean serum total testosterone level in the symptomatic men older than age 50 (mean: 2.68 +/- 0.51 ng/ml, range: 1.21 to 4.13 ng/ml) was significantly lower than that in the control group (mean: 7.01 +/- 0.82 ng/ml, range: 5.53 ng/ml to 8.14 ng/ml). Male frailty syndrome in these men older than 50 included: decreased libido (91%), lack of energy (89%), erection problems (79%), falling asleep after dinner (77%), memory impairment (77%), loss of pubic hair (70%), sad or grumpy mood changes (68%), decrease in endurance (66%), loss of axillary hair (55%), and deterioration in work performance (51%). The serum total testosterone level showed a decline with aging, especially in the men older than age 50. Low serum testosterone levels were also associated with the symptoms of male andropause syndrome.

Epileptic spasms and early-onset photosensitive epilepsy in Patau syndrome: An EEG study.

PubMed

Spagnoli, Carlotta; Kugathasan, Umaiyal; Brittain, Helen; Boyd, Stewart G

2015-08-01

Patau syndrome, trisomy 13, is the third commonest autosomal trisomy. It is associated with a 25-50% prevalence of epilepsy, but detailed electroclinical descriptions are rare. The occurrence of early-onset photosensitivity has recently been reported in single patients. We collected electroclinical data on 8 infants (age range from 2 months to 3 years and 9 months, median: 17 months) with Patau syndrome referred for an EEG in our Clinical Neurophysiology Department between 1991 and 2011. All EEGs, case-notes, cytogenetic diagnosis and neuroimaging when available were reviewed; data on the occurrence of seizures, epileptiform discharges, photoparoxysmal response and their characteristics in terms of positive frequencies, latencies, grade and duration were noted and analysed. Two patients had been previously diagnosed with epilepsy (one with tonic spasms and one with multiple seizure types). We found 3 patients with photosensitive myoclonic epilepsy (37.5%), and one with non-photosensitive myoclonic epilepsy. We also recorded non-epileptic myoclonic jerks in one patient known to suffer from epileptic spasms. Among photosensitive patients we found self-limited, Waltz's grade 2-4, spike-wave/polyspike-wave discharges in low, medium and high frequency ranges in two patients and in the high frequency range in the third patient, with latencies and duration from less than 1s to a maximum of 9s. In our cohort of Patau syndrome patients, we found a high prevalence of spasms and photic-induced myoclonic jerks. Photosensitivity shows an unusual early age of onset. Copyright © 2014 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.

Non-ST-segment elevation syndromes. Pharmacologic management, conservative versus early invasive approach.

PubMed

Santiago, Patrick; Tadros, Peter

2002-07-01

Many advances have been made in the treatment of acute coronary syndromes. Patients with intermediate-risk or high-risk features should receive treatment with the newer pharmacologic agents--enoxaparin, statins and, in selected cases, clopidogrel--in addition to established standard therapies (i.e., aspirin, beta-blockers, nitroglycerin, and oxygen). Use of GpIIb-IIIa inhibitors should also be strongly considered, especially in an early invasive approach. However, there is no substitute for a good physician who has the big picture and knows the individual patient in totality. This physician can best judge the dangers of the patient's acute cardiac condition against the comorbidities that may be exacerbated by revascularization procedures. The ability to weigh the risks of the patient's acute coronary syndrome against the risks of an aggressive invasive approach ultimately provides the best care for each patient.

Need for symptomatic management in advanced multiple sclerosis.

PubMed

Rønning, O M; Tornes, K D

2017-05-01

A majority of patients with advanced multiple sclerosis (MS) need symptomatic treatment. Many MS-related symptoms may not be recognized and thus are not treated. We conducted a study to estimate the prevalence of inadequate symptomatic treatment of patients with advanced MS. Patients with advanced MS admitted to a specialist MS rehabilitation clinic were included in this study. Severity was assessed using the Expanded Disability Status Scale (EDSS). The information we collected included age of onset, initial course, time to sustained disability, pharmacological treatment, degree of spasticity, pain and bladder dysfunction, and unmet needs of symptomatic treatment. In total, we assessed demographic and clinical characteristics in 129 patients with a mean age of 56 years and a median EDSS of 7.5. The proportion with inadequate symptom treatment was regarding spasticity 46%, pain 28%, and bladder dysfunction 23%. This study showed that a large proportion of patients with advanced MS had lack of symptomatic treatment. These patients probably underuse neurological specialist services. Better symptomatic treatment could contribute to improving quality of life of people with MS. © 2016 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Preclinical Alterations in the Serum of COL(IV)A3(-)/(-) Mice as Early Biomarkers of Alport Syndrome.

PubMed

Muckova, Petra; Wendler, Sindy; Rubel, Diana; Büchler, Rita; Alert, Mandy; Gross, Oliver; Rhode, Heidrun

2015-12-04

The efficiency of the inhibition of the angiotensin converting enzyme, the most widely used therapy for the Alport syndrome, depends on the onset of the therapy-the earlier the better. Hence, early progressive biomarkers are urgently required to allow for preclinical diagnosis, an early start of possible therapy as well as the monitoring of this therapy. In the present study, an improved comprehensive and precise proteomic approach has been applied to the serum of juvenile Alport-mice, nontreated and treated, and wild-type controls of various ages to search for biomarkers. With a total of 2542 stringently altered proteins, the serum composition clearly shows a dependency on age, that is, stage, and therapy. Initially, the serum constituents indicate an enhanced extracellular matrix remodeling, cell damage, and the production of particular acute phase proteins. A panel of 15 potential biomarker candidates has been identified. In later stages, renal filtration failure and systemic acute phase reaction determine the composition of the serum; an effect that is well-known for manifested human Alport syndrome. With a small number of mouse urine samples, for example, the proteomic results for gelsolin could be verified using ELISA. Once verified in man, these early biomarkers would allow for a sensitive and specific diagnosis of the Alport syndrome in children as well as facilitate the monitoring of a possible therapy.

Down Syndrome

MedlinePlus

... Down syndrome increases as a woman gets older. Down syndrome cannot be cured. Early treatment programs can help improve skills. They may include ... occupational, and/or educational therapy. With support and treatment, many ... Down syndrome live happy, productive lives. NIH: National Institute of ...

Gulf War Syndrome: a review of current knowledge and understanding.

PubMed

Minshall, D

2014-01-01

The 1991 Persian Gulf War was a resounding military success for coalition forces, who liberated Kuwait following the Iraqi invasion. The medical legacy we have from the conflict is the poorly understood, yet remarkable, phenomenon of Gulf War Syndrome, which surfaced soon after. Epidemiological research has proven beyond doubt that Gulf War veterans report a wide variety of symptoms, in excess of appropriately matched control subjects, and experience worse general health. Numerous toxic environmental hazards have been suggested as causes of Gulf War Syndrome, yet exhaustive scientific study has failed to provide conclusive proof of any link. No novel or recognised disease has been found to account for the symptomatic burden of veterans, and the optimal treatment remains uncertain. This understanding can be added to from an anthropological perspective, where the narratives of those afflicted provide further insight. The nature of military life was changing at the time of the Gulf War, challenging the identity and beliefs of some veterans and causing socio-cultural distress. The symptomatic presentation of Gulf War Syndrome can be considered an articulation of this disharmony. Gulf War Syndrome can also be considered within the group of post-combat disorders such as shellshock, the like of which have occurred after major wars in the last century. With the current withdrawal from Afghanistan, the Defence Medical Services (DMS) should heed the lessons of history.

Bilateral symptomatic synovial cysts of the lumbar spine caused by calcium pyrophosphate deposition disease: a case report.

PubMed

Gadgil, Anirudh A; Eisenstein, Stephan M; Darby, Alan; Cassar Pullicino, Victor

2002-10-01

A case of bilateral symptomatic facet joint synovial cysts arising in association with calcium pyrophosphate deposition disease is reported. To present a previously unreported cause for symptomatic synovial cysts of the lumbar spine. Synovial cysts of the facet joints occur most commonly in association with degenerative disease of the spine in older individuals. The association of these cysts with trauma, rheumatoid arthritis, spondylolysis, and kissing spinous processes also has been reported. These cysts can cause symptoms and signs from direct compression of the dura. Chondrocalcinosis has not been previously reported to cause symptomatic synovial cysts. A 67-year-old woman presented with right lower limb sciatica caused by a right L4-L5 facet joint cyst, which resolved after surgical decompression. A year later, she presented with left lower limb sciatica caused by development of a new L4-L5 facet joint cyst, which also resolved after surgical decompression. Histopathologic examination of each cyst showed a cyst wall of fibrous tissue with synovial lining, inflammation, and granulation tissue. Examination of the tissue under polarized light showed positively birefringent, short blunt crystals of calcium pyrophosphate dihydrate. In patients with a history of gout or pseudogout, a rare possibility of a synovial cyst should be considered in the differential diagnosis during investigation for the cause of neural compression resulting in sciatic syndrome.

Unusual presentation of adult Marfan syndrome as a complex diaphragmatic hiatus hernia.

PubMed

Thakur, Shruti; Jhobta, Anupam; Sharma, Brij; Chauhan, Arun; Thakur, Charu S

2017-07-01

Marfan syndrome is multisystem connective tissue disorder that primarily involves the skeletal, cardiovascular, and ocular systems. The gastrointestinal complications in Marfan syndrome are rare, with only a few case reports described in the literature. We present a 25-year-old woman who presented with acute abdominal pain for 1 day. The imaging features revealed complex diaphragmatic hiatus hernia with organoaxial gastric volvulus. This is a unique case report about an adult patient with Marfan syndrome who presented with symptomatic paraesophageal hernia and organoaxial gastric volvulus. Copyright © 2014. Published by Elsevier Taiwan.

[The causes of symptomatic epilepsy in children aged 3-18 years hospitalized in the year 2006-2007].

PubMed

Gergont, Aleksandra; Kroczka, Sławomir; Kaciński, Marek

2008-01-01

Epilepsy can be one of symptoms of the damage to CNS in children with neurodevelopmental deficits, it is more difficult however to diagnose seizures if they are the first symptom of severe brain damage. This retrospective research was conducted to study causes of symptomatic epilepsy in children aged 3-18 year hospitalized between 2006 and 2007 year in the Department of Pediatric Neurology. 156 children with symptomatic epilepsy occurred after 2 years of life were included. The diagnosis of symptomatic epilepsy was established including clinical picture, neuro-radiological tests and EEG. The information from parents was helpful to analyze the type of seizures. The clinical state of children was analyzed, especially psychomotor development, focal deficits, as well as results of CT and/or MRI, in some children psychological testing was performed, molecular or serological. 156 children with epilepsy were hospitalized, within encephalopathy was diagnosed in 61 children. In 42 children static encephalopathy was associated with birth trauma, in 7 progressive encephalopathy was diagnosed, in 1 child CO intoxication caused encephalopathy, and in 11 cases the cause was not identified. Malformations of nervous system were associated with epilepsy in 37 children, geneticaly determined syndromes in 6, and the head trauma in other 6 children. Disorders of vascular origin caused epilepsy in 16 children, and neuroinfections in 9 children. In 2 children epilepsy was associated with ADEM, and in 11 children nonspecific de/dysmyelination was detected. The brain tumor was detected in 6 children with symptomatic epilepsy. The most common disorder leading to epilepsy in children aged 3-18 years was encephalopathy, within hypoxic-ischemic encephalopathy. The other in sequence were malformations of nervous system and vascular diseases.

The effect of ‘Candidatus Liberibacter asiaticus’ infection on the proteomic profiles and nutritional status of pre-symptomatic and symptomatic grapefruit (Citrus paradisi) plants

PubMed Central

2013-01-01

Background Huanglongbing (HLB) is a highly destructive citrus disease which threatens citrus production worldwide and ‘Candidatus Liberibacter asiaticus’ (Las), a non-culturable phloem-limited bacterium, is an associated causal agent of the disease. To better understand the physiological and molecular processes involved in host responses to Las, 2-DE and mass spectrometry analyses, as well as ICP spectroscopy analysis were employed to elucidate the global protein expression profiles and nutrient concentrations in leaves of Las-infected grapefruit plants at pre-symptomatic or symptomatic stages for HLB. Results This study identified 123 protein spots out of 191 spots that showed significant changes in the leaves of grapefruit plants in response to Las infection and all identified spots matched to 69 unique proteins/peptides. A down-regulation of 56 proteins including those associated with photosynthesis, protein synthesis, and metabolism was correlated with significant reductions in the concentrations of Ca, Mg, Fe, Zn, Mn, and Cu in leaves of grapefruit plants in response to Las infection, particularly in symptomatic plants. Oxygen-evolving enhancer (OEE) proteins, a PSI 9 kDa protein, and a Btf3-like protein were among a small group of proteins that were down-regulated in both pre-symptomatic and symptomatic plants in response to Las infection. Furthermore, a Las-mediated up-regulation of 13 grapefruit proteins was detected, which included Cu/Zn superoxide dismutase, chitinases, lectin-related proteins, miraculin-like proteins, peroxiredoxins and a CAP 160 protein. Interestingly, a Las-mediated up-regulation of granule-bound starch synthase was correlated with an increase in the K concentrations of pre-symptomatic and symptomatic plants. Conclusions This study constitutes the first attempt to characterize the interrelationships between protein expression and nutritional status of Las-infected pre-symptomatic or symptomatic grapefruit plants and sheds light on

Early Onset Obesity and Risk of Metabolic Syndrome Among Chilean Adolescents

PubMed Central

Pacheco, Lorena Sonia; Blanco, Estela; Burrows, Raquel; Reyes, Marcela; Lozoff, Betsy

2017-01-01

Introduction Obesity and metabolic syndrome (MetS) indicators have increased globally among the pediatric population. MetS indicators in the young elevate their risk of cardiovascular disease and metabolic disorders later in life. This study examined early onset obesity as a risk factor for MetS risk in adolescence. Methods A cohort of Chilean participants (N = 673) followed from infancy was assessed at age 5 years and in adolescence (mean age, 16.8 y). Adiposity was measured at both time points; blood pressure and fasting blood samples were assessed in adolescence only. Early onset obesity was defined as a World Health Organization z score of 2 standard deviations (SDs) or more for body mass index (BMI) at age 5 years. We used linear regression to examine the association between early onset obesity and adolescent MetS risk z score, adjusting for covariates. Results Eighteen percent of participants had early onset obesity, and 50% of these remained obese in adolescence. Mean MetS risk z score in adolescence was significantly higher among those with early onset obesity than among those without (1.0; SD, 0.8 vs 0.2; SD, 0.8 [P < .001]). In the multivariable model, early onset obesity independently contributed to a higher MetS risk score in adolescence (β = 0.27, P < .001), controlling for obesity status at adolescence and sex, and explained 39% of the variance in MetS risk. Conclusion Early onset obesity as young as age 5 years relates to higher MetS risk. PMID:29023232

Loin pain hematuria syndrome

PubMed Central

Zubair, Adeel S.; Salameh, Hassan; Erickson, Stephen B.; Prieto, Mikel

2016-01-01

Loin pain hematuria syndrome (LPHS), first described in 1967, is a rare pain syndrome, which is not well understood. The syndrome is characterized by severe intermittent or persistent flank pain, either unilateral or bilateral, associated with gross or microscopic hematuria. LPHS is a diagnosis of exclusion as there still is not a consensus of validated diagnostic criteria, though several criteria have been proposed. The wide differential diagnosis would suggest a meticulous yet specific diagnostic work-up depending on the individual clinical features and natural history. Several mechanisms regarding the pathophysiology of LPHS have been proposed but without pinpointing the actual causative etiology, the treatment remains symptomatic. Treatment modalities for LPHS are diverse including simple analgesia, opioid analgesic and kidney autotransplantation. This review article summarizes the current understanding regarding the pathophysiology of LPHS along with the steps required for proper diagnosis and a discussion of the different therapeutic approaches for LPHS. PMID:26798473

Droxidopa for Symptomatic Neurogenic Hypotension.

PubMed

Ferguson-Myrthil, Nadia

Droxidopa is a first-in-class, orally available, synthetic amino acid precursor of norepinephrine that received accelerated Food and Drug Administration approval in February 2014 after Orphan Drug status for a debilitating condition known as symptomatic neurogenic orthostatic hypotension. Neurogenic disorders often lead to postural hypotension as a result of poor norepinephrine release from its storage sites. Clinical data suggest increases in standing systolic blood pressure and improvements in many other markers for subjective relief in patients with symptomatic neurogenic hypotension who received droxidopa therapy over 1-2 weeks. Studies evaluating the sustained effects of droxidopa are ongoing. With minimal drug interactions (even with carbidopa use) or adverse effects, droxidopa therapy can be used safely in patients with a variety of neurologic conditions; however, more data are needed to determine its appropriate pharmacotherapeutic role. In all, droxidopa is a safe and effective medication for the treatment of orthostatic dizziness/lightheadedness, or the "feeling that you are about to black out" in adult patients with symptomatic neurogenic orthostatic hypotension secondary to primary autonomic failure (Parkinson's disease, multiple system atrophy, and pure autonomic failure), dopamine beta-hydroxylase deficiency, and nondiabetic autonomic neuropathy.

Syndromic Management and STI Control in Urban Peru

PubMed Central

Clark, Jesse L.; Lescano, Andres G.; Konda, Kelika A.; Leon, Segundo R.; Jones, Franca R.; Klausner, Jeffrey D.; Coates, Thomas J.; Caceres, Carlos F.

2009-01-01

Background Syndromic management is an inexpensive and effective method for the treatment of symptomatic sexually transmitted infections (STIs), but its effectiveness as a method of STI control in at-risk populations is questionable. We sought to determine the potential utility of syndromic management as a public health strategy to control STI transmission in high-risk populations in urban Peru. Methodology We surveyed 3,285 at-risk men and women from three Peruvian cities from 2003–05. Participants were asked about the presence of genital ulcers, discharge, or dysuria in the preceding six months. Participants reporting symptoms were asked about subsequent health-seeking and partner notification behavior. Urine and vaginal swab samples were tested for Neisseria gonorrhoeae and Chlamydia trachomatis by nucleic acid testing. Serum was tested for syphilis and Herpes Simplex Virus-Type 2 antibodies. Findings Recent urogenital discharge or dysuria was reported by 42.1% of participants with gonorrhea or chlamydia versus 28.3% of participants without infection. Genital ulceration was reported by 6.2% of participants with, and 7.4% of participants without, recent syphilis. Many participants reporting symptoms continued sexual activity while symptomatic, and approximately half of all symptomatic participants sought treatment. The positive and negative predictive values of urogenital discharge or genital ulcer disease in detecting STIs that are common in the study population were 14.4% and 81.5% for chlamydia in women and 8.3% and 89.5% for syphilis among gay-identified men. Conclusions In our study, STIs among high-risk men and women in urban Peru were frequently asymptomatic and symptomatic participants often remained sexually active without seeking treatment. Additional research is needed to assess the costs and benefits of targeted, laboratory-based STI screening as part of a comprehensive STI control program in developing countries. PMID:19779620

Association between hyperhomocysteinemia and metabolic syndrome with early carotid artery atherosclerosis: A cross-sectional study in middle-aged Chinese population.

PubMed

Liu, Chengguo; Sun, Xiaohui; Lin, Hanli; Zheng, Ruizhi; Ruan, Liansheng; Sun, Zhanhang; Zhu, Yimin

2018-03-21

Homocysteine is a modifiable, independent risk factor for cardiovascular disease. The association between hyperhomocysteinemia and metabolic syndrome with the presence of early carotid artery atherosclerosis remains unknown in middle-aged Chinese adults. Chinese adults (n = 1607) of Han ethnicity, age 35 to 65 y, and living in their communities >2 y were surveyed. Hyperhomocysteinemia was defined as homocysteine concentrations >15 µmol/L. Carotid intima-media thickness and carotid plaque were examined by ultrasonography. All participants were classified into four groups by hyperhomocysteinemia and metabolic syndrome status. Participants with both hyperhomocysteinemia and metabolic syndrome had the highest levels of waist circumference and systolic blood pressure compared with the three other groups. The highest proportion of increased carotid intima-media thickness (61.3%) was in the subgroup of both hyperhomocysteinemia and metabolic syndrome. After adjustments for the covariates, the risk of increased carotid intima-media thickness was only significantly higher in the group with metabolic syndrome but without hyperhomocysteinemia (odds ratio: 1.47; 95% confidence interval, 1.13-1.93) compared with people without hyperhomocysteinemia and metabolic syndrome. Furthermore, statistically significant variances of prevalence of plaque among the four subgroups were not discovered. Our study demonstrated that metabolic syndrome had a strong effect on carotid intima-media thickness However, the increased homocysteine levels were not significantly associated with early carotid artery atherosclerosis in middle-aged Chinese people. Copyright © 2018 Elsevier Inc. All rights reserved.

Early development in males with Fragile X syndrome: a review of the literature.

PubMed

Kau, Alice S M; Meyer, Walter A; Kaufmann, Walter E

2002-05-01

This article reviews the current bibliographic knowledge on early neurobehavioral development and milestones in Fragile X syndrome (FraX), with emphasis on males affected by the condition. Three broad areas of early development were examined: (1) gross and fine motor, (2) speech and language, and (3) social. The result of the current review indicates very limited information on the developmental milestones in all three areas. The scarce literature on motor development shows that in FraX there is an early developmental delay. Research on speech and language demonstrates pervasive deficits in conversational skills and severe developmental delay, with increasing discrepancy between language level and chronological age in young males with FraX. Finally, deficits in social development in FraX include abnormal gaze, approach and avoidance conflict, and high incidence of autistic spectrum disorders. Copyright 2002 Wiley-Liss, Inc.

Cerebral embolization in asymptomatic versus symptomatic patients after carotid stenting.

PubMed

Tulip, Hans H; Rosero, Eric B; Higuera, Adriana J; Ilarraza, Adriana; Valentine, R James; Timaran, Carlos H

2012-12-01

Previous studies have investigated the development of new ischemic brain lesions on diffusion-weighted magnetic resonance imaging (DW-MRI) after carotid artery stenting (CAS). The rate of ischemic brain injury after CAS for asymptomatic stenosis has not been extensively studied but is presumed to be less likely than in symptomatic patients. This study assessed the occurrence of cerebral embolization after CAS for asymptomatic vs symptomatic carotid stenosis. During an 18-month period, 40 patients undergoing CAS under filter embolic protection were prospectively evaluated. Transcranial Doppler (TCD) during CAS and preprocedural and 24-hour postprocedural DW-MRI were used to assess cerebral embolization. Univariate and nonparametric analyses were used to compare differences in cerebral embolization after CAS in asymptomatic and symptomatic patients. CAS was performed for 23 asymptomatic (58%) and 17 symptomatic (42%) carotid stenoses. The median microembolic counts detected by TCD were 285 (interquartile range [IQR], 182-376) for asymptomatic and 313 (IQR, 170-426) for symptomatic carotid stenosis (P=.6). DW-MRI was available for assessment in 20 asymptomatic and 14 symptomatic patients. New acute cerebral emboli detected with DW-MRI occurred in 10 asymptomatic (50%) and 7 symptomatic patients (50%) undergoing CAS (P=.9). The ipsilateral and total median number of DW-MRI lesions between groups were not statistically significantly different at, respectively, 1 (IQR, 0-2.5) and 1.5 (IQR, 0-3) for asymptomatic vs 0.5 (IQR, 0-2) and 0.5 (IQR, 0-3) for symptomatic carotid stenosis (P>.5). One asymptomatic patient sustained a minor stroke after CAS. No new neurologic events occurred in symptomatic patients. The 30-day stroke-death rate was 2.5% in this series. Cerebral embolization, as detected by TCD and DW-MRI, occurs with a similar frequency after CAS for asymptomatic and symptomatic carotid stenosis. Because postprocedural ischemic brain injury occurs in approximately

Early Language Stimulation of Down's Syndrome Babies: A Study on the Optimum Age To Begin.

ERIC Educational Resources Information Center

Aparicio, Maria Teresa Sanz; Balana, Javier Menendez

2002-01-01

Examined the marked delay in language acquisition suffered by babies with Down Syndrome and how early treatment affects the subsequent observed development among 36 subjects in Spain. Found statistically significant differences in language acquisitions in favor of newborns, compared with 90-day-old through 18-month-old infants who experienced…

Pharmacological treatment of disruptive behavior in Smith-Magenis syndrome.

PubMed

Laje, Gonzalo; Bernert, Rebecca; Morse, Rebecca; Pao, Maryland; Smith, Ann C M

2010-11-15

Smith-Magenis syndrome (SMS) is a complex genetic syndrome caused by an interstitial deletion of chromosome 17p11.2. Children and adults with SMS appear to have unique neurobehavioral problems that include: sleep disturbance, self-injurious and maladaptive behaviors, stereotypies, and sensory integration disorders. We gathered retrospective psychotropic use information from parents or other caregivers of 62 individuals with SMS who were asked about use of psychotropic medication from a list of commonly used psychiatric medications. For those drugs identified, respondents were asked to rate the experience with the particular medication using a likert-type scale. Drugs were grouped into seven main categories: (1) stimulants; (2) antidepressants; (3) antipsychotics; (4) sleep aides; (5) mood stabilizers; (6) alpha 2 agonists; and (7) benzodiazepines. Relative frequencies, means and standard deviations pertaining to age and medication effect were derived for each medication category. Six of the seven medication categories examined showed no meaningful deviations from the "no change" score. The benzodiazepine group showed a mild detrimental effect. There were no gender differences in efficacy. Use of psychotropic medication started early in life (mean age 5 years), particularly with sleep aides. Although no medication category was identified as efficacious in SMS, all the categories reported herein may be considered as an option for brief symptomatic relief.

Psychological Distress in Patients with Symptomatic Vitreous Floaters

PubMed Central

Yim, Kyung Mi; Seong, Su Jeong

2017-01-01

Purpose To evaluate the degree of psychological distress in symptomatic vitreous floater patients and to evaluate whether these psychological factors are associated with the severity of discomfort associated with vitreous floaters. Methods We recruited 61 patients with symptomatic vitreous floaters and 34 controls. The degree of posterior vitreous detachment (PVD) was evaluated using optical coherence tomography. We measured the level of depression, perceived stress, state, and trait anxiety and the degree of floater-associated discomfort with self-administered questionnaire. We compared psychological parameters between floater patients and control. We also compared clinical and psychological characteristics among different floater-associated discomfort severity groups. Results Symptomatic vitreous floater patients showed higher rate of complete PVD and higher psychological distress compared to the control. On multiple logistic regression analysis, complete PVD (p = 0.001), depression (p = 0.001), and younger age (p = 0.037) were significantly associated with symptomatic floaters. There were no significant differences in complete PVD rate among different discomfort groups, while severe discomfort group showed higher depression, perceived stress, and state and trait anxiety compared to the other two milder symptom groups. Conclusions Symptomatic vitreous floater patients showed substantial level of psychological distress, and the severity of floater symptoms was significantly associated with psychological distress. PMID:29375909

Psychological Distress in Patients with Symptomatic Vitreous Floaters.

PubMed

Kim, Yong-Kyu; Moon, Su Young; Yim, Kyung Mi; Seong, Su Jeong; Hwang, Jae Yeon; Park, Sung Pyo

2017-01-01

To evaluate the degree of psychological distress in symptomatic vitreous floater patients and to evaluate whether these psychological factors are associated with the severity of discomfort associated with vitreous floaters. We recruited 61 patients with symptomatic vitreous floaters and 34 controls. The degree of posterior vitreous detachment (PVD) was evaluated using optical coherence tomography. We measured the level of depression, perceived stress, state, and trait anxiety and the degree of floater-associated discomfort with self-administered questionnaire. We compared psychological parameters between floater patients and control. We also compared clinical and psychological characteristics among different floater-associated discomfort severity groups. Symptomatic vitreous floater patients showed higher rate of complete PVD and higher psychological distress compared to the control. On multiple logistic regression analysis, complete PVD ( p = 0.001), depression ( p = 0.001), and younger age ( p = 0.037) were significantly associated with symptomatic floaters. There were no significant differences in complete PVD rate among different discomfort groups, while severe discomfort group showed higher depression, perceived stress, and state and trait anxiety compared to the other two milder symptom groups. Symptomatic vitreous floater patients showed substantial level of psychological distress, and the severity of floater symptoms was significantly associated with psychological distress.

Piriformis muscle syndrome.

PubMed

Kuncewicz, Elzbieta; Gajewska, Ewa; Sobieska, Magdalena; Samborski, Włodzimierz

2006-01-01

Sciatica is characterized by radiating pain from the sacro-lumbar region to the buttocks and down to the lower limb. The causes of sciatica usually relate to degenerative changes in the spine and lesions to the intervertebral discs. Secondary symptomatic sciatica may by caused by metastases to the vertebra, tuberculosis of the spine, tumors located inside the vertebral channel, or entrapment of the sciatic nerve in the piriformis muscle. The piriformis syndrome is primarily caused by fall injury, but other causes are possible, including pyomyositis, dystonia musculorum deformans, and fibrosis after deep injections. Secondary causes like irritation of the sacroiliac joint or lump near the sciatic notch have been described. In the general practice the so-called posttraumatic piriformis muscle syndrome is common. The right treatment can be started following a thorough investigation into the cause of symptoms.

Chronic exertional compartment syndrome with medial tibial stress syndrome in twins.

PubMed

Banerjee, Purnajyoti; McLean, Christopher

2011-06-14

Chronic exertional compartment syndrome and medial tibial stress syndrome are uncommon conditions that affect long-distance runners or players involved in team sports that require extensive running. We report 2 cases of bilateral chronic exertional compartment syndrome, with medial tibial stress syndrome in identical twins diagnosed with the use of a Kodiag monitor (B. Braun Medical, Sheffield, United Kingdom) fulfilling the modified diagnostic criteria for chronic exertional compartment syndrome as described by Pedowitz et al, which includes: (1) pre-exercise compartment pressure level >15 mm Hg; (2) 1 minute post-exercise pressure >30 mm Hg; and (3) 5 minutes post-exercise pressure >20 mm Hg in the presence of clinical features. Both patients were treated with bilateral anterior fasciotomies through minimal incision and deep posterior fasciotomies with tibial periosteal stripping performed through longer anteromedial incisions under direct vision followed by intensive physiotherapy resulting in complete symptomatic recovery. The etiology of chronic exertional compartment syndrome is not fully understood, but it is postulated abnormal increases in intramuscular pressure during exercise impair local perfusion, causing ischemic muscle pain. No familial predisposition has been reported to date. However, some authors have found that no significant difference exists in the relative perfusion, in patients, diagnosed with chronic exertional compartment syndrome. Magnetic resonance images of affected compartments have indicated that the pain is not due to ischemia, but rather from a disproportionate oxygen supply versus demand. We believe this is the first report of chronic exertional compartment syndrome with medial tibial stress syndrome in twins, raising the question of whether there is a genetic predisposition to the causation of these conditions. Copyright 2011, SLACK Incorporated.

A Review of Symptomatic Lumbosacral Transitional Vertebrae: Bertolotti's Syndrome

PubMed Central

Jancuska, Jeffrey M.; Spivak, Jeffrey M.

2015-01-01

Background Lumbosacral transitional vertebrae (LSTV) are increasingly recognized as a common anatomical variant associated with altered patterns of degenerative spine changes. This review will focus on the clinical significance of LSTV, disruptions in normal spine biomechanics, imaging techniques, diagnosis, and treatment. Methods A Pubmed search using the specific key words “LSTV,” “lumbosacral transitional vertebrae,” and “Bertolotti's Syndrome” was performed. The resulting group of manuscripts from our search was evaluated. Results LSTV are associated with alterations in biomechanics and anatomy of spinal and paraspinal structures, which have important implications on surgical approaches and techniques. LSTV are often inaccurately detected and classified on standard AP radiographs and MRI. The use of whole-spine images as well as geometric relationships between the sacrum and lumbar vertebra increase accuracy. Uncertainty regarding the cause, clinical significance, and treatment of LSTV persists. Some authors suggest an association between LSTV types II and IV and low back pain. Pseudoarticulation between the transverse process and the sacrum creates a “false joint” susceptible to arthritic changes and osteophyte formation potentially leading to nerve root entrapment. The diagnosis of symptomatic LSTV is considered with appropriate patient history, imaging studies, and diagnostic injections. A positive radionuclide study along with a positive effect from a local injection helps distinguish the transitional vertebra as a significant pain source. Surgical resection is reserved for a subgroup of LSTV patients who fail conservative treatment and whose pain is definitively attributed to the anomalous pseudoarticulation. Conclusions Due to the common finding of low back pain and the wide prevalence of LSTV in the general population, it is essential to differentiate between symptoms originating from an anomalous psuedoarticulation from other potential

Best practice guidelines for idiopathic nephrotic syndrome: recommendations versus reality.

PubMed

Pasini, Andrea; Aceto, Gabriella; Ammenti, Anita; Ardissino, Gianluigi; Azzolina, Vitalba; Bettinelli, Alberto; Cama, Elena; Cantatore, Sante; Crisafi, Antonella; Conti, Giovanni; D'Agostino, Maria; Dozza, Alessandra; Edefonti, Alberto; Fede, Carmelo; Groppali, Elena; Gualeni, Chiara; Lavacchini, Alessandra; Lepore, Marta; Maringhini, Silvio; Mariotti, Paola; Materassi, Marco; Mencarelli, Francesca; Messina, Giovanni; Negri, Amata; Piepoli, Marina; Ravaglia, Fiammetta; Simoni, Angela; Spagnoletta, Laura; Montini, Giovanni

2015-01-01

The optimal therapeutic regimen for managing childhood idiopathic nephrotic syndrome (INS) is still under debate. We have evaluated the choice of steroid regimen and of symptomatic treatment adopted by pediatricians and pediatric nephrologists in a large number of centers as the first step towards establishing a shared protocol This was a multicenter, retrospective study. A total of 231 children (132 admitted to pediatric units) aged 6 months to <15 years who presented with onset of nephrotic syndrome to 54 pediatric units and six pediatric nephrology units in Italy between 2007 and 2009 were eligible for entry into the study. Median steroid dosing was 55 (range 27-75) mg/m(2)/day. The overall median cumulative dose regimen for the first episode was 3,440 (1,904-6,035) mg/m(2), and the median duration of the therapeutic regimen was 21 (9-48) weeks. The total duration and cumulative steroid dose were significantly higher in patients treated by pediatricians than in those treated by pediatric nephrologists (p = 0.001 and p = 0.008). Among the patient cohort, 55, 64 and 22 % received albumin infusions, diuretics and acetyl salicylic acid treatment, respectively, but the laboratory and clinical data did not differ between children treated or not treated with symptomatic drugs. Albumin and diuretic use did not vary between patients in pediatric units and those in pediatric nephrology units. This study shows major differences in steroid and symptomatic treatment of nephrotic syndrome by pediatricians and pediatric nephrologists. As these differences can influence the efficacy of the treatments and the appearance of side-effects, shared guidelines and their implementation through widespread educational activities are necessary.

Early Brain Vulnerability in Wolfram Syndrome

PubMed Central

Hershey, Tamara; Lugar, Heather M.; Shimony, Joshua S.; Rutlin, Jerrel; Koller, Jonathan M.; Perantie, Dana C.; Paciorkowski, Alex R.; Eisenstein, Sarah A.; Permutt, M. Alan

2012-01-01

Wolfram Syndrome (WFS) is a rare autosomal recessive disease characterized by insulin-dependent diabetes mellitus, optic nerve atrophy, diabetes insipidus, deafness, and neurological dysfunction leading to death in mid-adulthood. WFS is caused by mutations in the WFS1 gene, which lead to endoplasmic reticulum (ER) stress-mediated cell death. Case studies have found widespread brain atrophy in late stage WFS. However, it is not known when in the disease course these brain abnormalities arise, and whether there is differential vulnerability across brain regions and tissue classes. To address this limitation, we quantified regional brain abnormalities across multiple imaging modalities in a cohort of young patients in relatively early stages of WFS. Children and young adults with WFS were evaluated with neurological, cognitive and structural magnetic resonance imaging measures. Compared to normative data, the WFS group had intact cognition, significant anxiety and depression, and gait abnormalities. Compared to healthy and type 1 diabetic control groups, the WFS group had smaller intracranial volume and preferentially affected gray matter volume and white matter microstructural integrity in the brainstem, cerebellum and optic radiations. Abnormalities were detected in even the youngest patients with mildest symptoms, and some measures did not follow the typical age-dependent developmental trajectory. These results establish that WFS is associated with smaller intracranial volume with specific abnormalities in the brainstem and cerebellum, even at the earliest stage of clinical symptoms. This pattern of abnormalities suggests that WFS has a pronounced impact on early brain development in addition to later neurodegenerative effects, representing a significant new insight into the WFS disease process. Longitudinal studies will be critical for confirming and expanding our understanding of the impact of ER stress dysregulation on brain development. PMID:22792385

Early photoreceptor outer segment loss and retinoschisis in Cohen syndrome.

PubMed

Uyhazi, Katherine E; Binenbaum, Gil; Carducci, Nicholas; Zackai, Elaine H; Aleman, Tomas S

2018-06-01

To describe early structural and functional retinal changes in a patient with Cohen syndrome. A 13-month-old Caucasian girl of Irish and Spanish ancestry was noted to have micrognathia and laryngomalacia at birth, which prompted a genetic evaluation that revealed biallelic deletions in COH1 (VPS13B) (a maternally inherited 60-kb deletion involving exons 26-32 and a paternally inherited 3.5-kb deletion within exon 17) consistent with Cohen syndrome. She underwent a complete ophthalmic examination, full-field flash electroretinography and retinal imaging with spectral domain optical coherence tomography. Central vision was central, steady, and maintained. There was bilateral myopic astigmatic refractive error. Fundus exam was notable for dark foveolar pigmentation, but no obvious abnormalities of either eye. Spectral domain optical coherence tomography cross sections through the fovea revealed a normal appearing photoreceptor outer nuclear layer but loss of the interdigitation signal between the photoreceptor outer segments and the apical retinal pigment epithelium. Retinoschisis involving the inner nuclear layer of both eyes and possible ganglion cell layer thinning were also noted. There was a detectable electroretinogram with similarly reduced amplitudes of rod- (white, 0.01 cd.s.m -2 ) and cone-mediated (3 cd.s.m -2 , 30 Hz) responses. Photoreceptor outer segment abnormalities and retinoschisis may represent the earliest structural retinal change detected by spectral domain optical coherence tomography in patients with Cohen syndrome, suggesting a complex pathophysiology with primary involvement of the photoreceptor cilium and disorganization of the structural integrity of the inner retina.

Kinematic Features of Jaw and Lips Distinguish Symptomatic from Presymptomatic Stages of Bulbar Decline in Amyotrophic Lateral Sclerosis

ERIC Educational Resources Information Center

Bandini, Andrea; Green, Jordan R.; Wang, Jun; Campbell, Thomas F.; Zinman, Lorne; Yunusova, Yana

2018-01-01

Purpose: The goals of this study were to (a) classify speech movements of patients with amyotrophic lateral sclerosis (ALS) in presymptomatic and symptomatic phases of bulbar function decline relying solely on kinematic features of lips and jaw and (b) identify the most important measures that detect the transition between early and late bulbar…

[Use of bevacizumab (Avastin) in KID syndrome: case report].

PubMed

Caye, Luiza; Scheid, Karin; Pizzol, Melissa Manfroi Dal; Freda, Roberto

2010-01-01

KID syndrome is a congenital ectodermal dysplasia characterized by the association of keratitis, hyperkeratotic skin lesions and neurosensorial hearing loss. Ocular involvement occurs in 95% of patients. Although KID syndrome cutaneous manifestations have been studied in-depth, the treatment and prognosis of ophthalmic impairment have not been described in detail. At present, the treatment of the ocular damage caused by the syndrome is symptomatic and there are no studies defining a treatment that could change the disease course. In this case, ophthalmologic findings of a patient with KID syndrome and the use of subconjunctival bevacizumab to treat corneal neovascularization are described. In spite of the absence of improvement in this patient and the few reports of this disease, additional studies with bevacizumab to treat corneal deep neovascularization are suggested.

Nevoid basal cell carcinoma syndrome (Gorlin-Goltz syndrome)

PubMed Central

Kiran, N. K.; Tilak Raj, T. N.; Mukunda, K. S.; Rajashekar Reddy, V.

2012-01-01

The Gorlin-Goltz syndrome, also known as nevoid basal cell carcinoma syndrome (NBCCS), is an infrequent multisystemic disease inherited in a dominant autosomal way, which shows a high level of penetrance and variable expressiveness. It is characterized by odontogenic keratocysts in the jaw, multiple basal cell nevi carcinomas and skeletal abnormalities. This syndrome may be diagnosed early by a dentist by routine radiographic exams in the first decade of life, since the odontogenic keratocysts are usually one of the first manifestations of the syndrome. This case report presents a patient diagnosed as NBCCS by clinical, radiographic and histological findings in a 13-year-old boy. This paper highlights the importance of early diagnosis of NBCCS which can help in preventive multidisciplinary approach to provide a better prognosis for the patient. PMID:23633824

Nevoid basal cell carcinoma syndrome (Gorlin-Goltz syndrome).

PubMed

Kiran, N K; Tilak Raj, T N; Mukunda, K S; Rajashekar Reddy, V

2012-10-01

The Gorlin-Goltz syndrome, also known as nevoid basal cell carcinoma syndrome (NBCCS), is an infrequent multisystemic disease inherited in a dominant autosomal way, which shows a high level of penetrance and variable expressiveness. It is characterized by odontogenic keratocysts in the jaw, multiple basal cell nevi carcinomas and skeletal abnormalities. This syndrome may be diagnosed early by a dentist by routine radiographic exams in the first decade of life, since the odontogenic keratocysts are usually one of the first manifestations of the syndrome. This case report presents a patient diagnosed as NBCCS by clinical, radiographic and histological findings in a 13-year-old boy. This paper highlights the importance of early diagnosis of NBCCS which can help in preventive multidisciplinary approach to provide a better prognosis for the patient.

Symptomatic hemorrhoids.

PubMed

Gearhart, Susan L

2004-01-01

The most important aspect in the diagnosis of hemorrhoidal disease is the exclusion of other, more life-threatening conditions. Hemorrhoidal banding remains the most successful method to manage hemorrhoids in the outpatient clinic. Chronic application of local medications to the perineum may result in dermatologic conditions. It is safe to manage acutely inflamed hemorrhoids surgically. Table 1 is a summary of the various methods for the surgical management of symptomatic prolapsing hemorrhoids. Dietary manipulation, including fiber supplementation, should always accompany surgical

Gorlin-goltz syndrome.

PubMed

Mehta, Dn; Raval, N; Patadiya, H; Tarsariya, V

2014-03-01

The Gorlin-Goltz syndrome (GGS) (the nevoid basal cell carcinoma syndrome) is a rare autosomal dominant syndrome caused due to mutations in the patched gene found on chromosome arm 9 q. It shows high penetrance and variable expressivity; is characterized by basal cell carcinomas, odontogenic keratocysts, palmar and/or plantar pits and ectopic calcifications of the falx cerebri. Until date, very few cases of GGS have been reported in India. Early diagnosis and treatment as well as genetic counseling are essential for this syndrome. A rare case report of a patient with characteristic features of GGS diagnosed at a rural dental college of Gujarat, India is presented here. This case report draws attention of the valuable role of dentist in diagnosis and early management of this syndrome.

Symptomatic coracoclavicular joint: incidence, clinical significance and available management options.

PubMed

Singh, Vinay Kumar; Singh, Pankaj Kumar; Trehan, Ravi; Thompson, Simon; Pandit, Ravi; Patel, Vipul

2011-12-01

Coracoclavicular joint (CCJ) is a rare anomalous joint occasionally found between the coracoid process of scapula and the conoid tubercle of clavicle. The articulation has been extensively studied by means of anatomical, osteological and radiological investigations. Most cases are discovered incidentally, with the symptomatic variety remaining an exceptional rarity. Our aim was to review all reported symptomatic CCJ to increase the level of evidence and formulate a treatment algorithm to aid clinicians in management planning. A thorough literature search was performed, and data from 17 (n = 17) symptomatic cases of CCJ were analysed. CCJ is a rare finding and mostly an incidental discovery, which is rarely symptomatic. However, when symptomatic, the most common symptom is shoulder pain. The mean age at presentation is 42 years, with a male:female ratio of 1.4:1. Brachial plexus involvement was the most common pathophysiological explanation provided. First-line treatment was conservative, with a very low success rate of 5.9%. Surgical intervention in the form of excision of anomalous joint by osteotomy had success rate of 100%. Symptomatic CCJ is rare, and its rarity leads to lack of awareness in the general orthopaedic community. When symptomatic, CCJ may lead to delayed diagnosis or inappropriate management due to lack of evidence and poor description in most orthopaedic textbooks. Despite its low success rate, conservative treatment is advocated before embarking upon surgical intervention.

Kinematic Features of Jaw and Lips Distinguish Symptomatic From Presymptomatic Stages of Bulbar Decline in Amyotrophic Lateral Sclerosis.

PubMed

Bandini, Andrea; Green, Jordan R; Wang, Jun; Campbell, Thomas F; Zinman, Lorne; Yunusova, Yana

2018-05-17

The goals of this study were to (a) classify speech movements of patients with amyotrophic lateral sclerosis (ALS) in presymptomatic and symptomatic phases of bulbar function decline relying solely on kinematic features of lips and jaw and (b) identify the most important measures that detect the transition between early and late bulbar changes. One hundred ninety-two recordings obtained from 64 patients with ALS were considered for the analysis. Feature selection and classification algorithms were used to analyze lip and jaw movements recorded with Optotrak Certus (Northern Digital Inc.) during a sentence task. A feature set, which included 35 measures of movement range, velocity, acceleration, jerk, and area measures of lips and jaw, was used to classify sessions according to the speaking rate into presymptomatic (> 160 words per minute) and symptomatic (< 160 words per minute) groups. Presymptomatic and symptomatic phases of bulbar decline were distinguished with high accuracy (87%), relying only on lip and jaw movements. The best features that allowed detecting the differences between early and later bulbar stages included cumulative path of lower lip and jaw, peak values of velocity, acceleration, and jerk of lower lip and jaw. The results established a relationship between facial kinematics and bulbar function decline in ALS. Considering that facial movements can be recorded by means of novel inexpensive and easy-to-use, video-based methods, this work supports the development of an automatic system for facial movement analysis to help clinicians in tracking the disease progression in ALS.

Early relapse of Burkitt lymphoma heralded by a bone marrow necrosis and numb chin syndrome successfully treated with allogeneic stem cell transplantation.

PubMed

Cerny, Jan; Devitt, Katherine; Yu, Hongbo; Ramanathan, Muthalagu; Woda, Bruce; Nath, Rajneesh

2014-01-01

The optimal salvage therapy for patients with relapsed Burkitt lymphoma is unknown. Bone marrow necrosis is an underreported (<1% of bone marrow failures). Numb chin syndrome is another rare syndrome associated with aggressive malignancies. Survival of these syndromes is dictated by the underlying disease and is usually dismal. Our 35-year-old patient experienced an early relapse of Burkitt lymphoma accompanied by syndromes, achieved second complete remission and underwent allogeneic stem cell transplantation. He remains alive and well >2 years after the transplant. To our knowledge, this is the longest reported survival of the two syndromes in the setting of BL relapse.

Practical considerations on the introduction of sacubitril/valsartan in clinical practice: Current evidence and early experience.

PubMed

Farmakis, Dimitrios; Bistola, Vassiliki; Karavidas, Apostolos; Parissis, John

2016-11-15

The combination of neprilysin inhibitor sacubitril with the angiotensin II receptor 1 blocker valsartan is the first agent from the angiotensin receptor neprilysin inhibitors (ARNI) class authorized for clinical use in heart failure (HF) patients with reduced ejection fraction (HFrEF). Sacubitril/valsartan resulted in 20% reduction in the incidence rate of death or HF hospitalization compared to enalapril in symptomatic HFrEF patients in the seminal PARADIGM-HF trial. As a result, the recently updated European and American HF guidelines granted this agent a class IB indication for the treatment of ambulatory/chronic symptomatic HFrEF patients. However, translating the positive results of trials into true clinical benefit is often challenging. This is particularly true in the case of sacubitril/valsartan, as HF is a heterogeneous syndrome including many severely ill patients who are prone to decompensation, while this new agent comes to replace a cornerstone of current evidence-based HF therapy. In the present paper, we address a number of practical issues regarding the introduction of sacubitril/valsartan and propose an algorithm based on available evidence and early clinical experience. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

[Fibromyalgia syndrome after comprehensive treatment of breast cancer: a case report].

PubMed

Ding, Xia; Li, Yan; Cui, Yiyi; Shen, Yingying; Gu, Jianzhong; Guo, Yong

2016-05-25

Fibromyalgia syndrome after comprehensive treatment of breast cancer is rare and seldom reported. Here we present a case of a 50-year-old female patient,who was admitted to the hospital because of generalized fibromyalgia for 3 months and brain metastasis after the right breast carcinoma surgery for 1 month, and the clinical diagnosis was brain metastasis from breast carcinoma combined with fibromyalgia syndrome. The fibromyalgia were relieved with proper symptomatic treatment but the patient eventually died of tumor progression.

Accessory Navicular Syndrome in Athlete vs General Population.

PubMed

Jegal, Hyuk; Park, Young Uk; Kim, Jin Su; Choo, Ho Sik; Seo, Young Uk; Lee, Kyung Tai

2016-08-01

Symptomatic accessory navicular syndrome (ANS) typically develops in young athletes. The symptoms are exacerbated during exercise or while walking, affecting the sports performance of athletes. The purpose of this study was to evaluate the radiologic findings and clinical course in athletes with accessory navicular syndrome (ANS) in comparison with a nonathletic population. Seventy-nine patients with ANS between August 2012 and August 2013 were included. Overall, 29 were athletes and 50 were not athletes, and 19 (2 athletes and 17 nonathletes) of them improved after at least 6 months of conservative treatment. The records of 60 patients (64 consecutive feet) of ANS treated by modified Kidner operation were evaluated retrospectively. The study population included 27 athletes (31 feet) and 33 nonathletes (33 feet). Clinical features and radiologic findings were compared between them. Overall, 34% of the nonathletes improved after conservative treatment, but only 6.9% of athletes improved (P < .001). Mean age at surgery in the athlete group was 16.1 years (range, 12-26), and 24.3 years (range, 12-52) in the nonathlete group (P < .001). There was a history of trauma in 23 feet (74%) of the athlete group and in 13 feet (39%) of the nonathlete group (P = .006). Eighteen feet (58%) in the athlete group and 11 feet (32%) in the nonathlete group showed movement between the 2 bones (P = .047). Bone marrow edema was observed in both navicular and accessory navicular in all of the athletes (27/27, 100%). But it was only present in 80% (16/20) for nonathletes (P = .012). The radiologic findings and clinical course of athletes were different from that of the general population. Their symptoms were more refractory to conservative treatment than the nonathletes group. Therefore, early operative treatment could be considered in cases of symptomatic ANS especially for athletes. Level III, retrospective comparative case series. © The Author(s) 2016.

A role of the Lowe syndrome protein OCRL in early steps of the endocytic pathway

PubMed Central

Erdmann, Kai S.; Mao, Yuxin; McCrea, Heather J.; Zoncu, Roberto; Lee, Sangyoon; Paradise, Summer; Modregger, Jan; Biemesderfer, Daniel; Toomre, Derek; De Camilli, Pietro

2007-01-01

Mutations in the inositol 5-phosphatase OCRL are responsible for Lowe syndrome, whose manifestations include mental retardation and renal Fanconi syndrome. OCRL has been implicated in membrane traffic, but disease mechanisms remain unclear. We show that OCRL visits late stage endocytic clathrin coated pits and binds the Rab5 effector APPL1 on peripheral early endosomes. The interaction with APPL1, which is mediated by the ASH-RhoGAP-like domains of OCRL and is abolished by disease mutations, provides a link to protein networks implicated in the reabsorptive function of kidney and in traffic and signaling of growth factor receptors in brain. Crystallographic studies reveal a role of the ASH-RhoGAP-like domains in positioning the phosphatase domain at the membrane interface and a clathrin box protruding from the RhoGAP-like domain. Our results support a role of OCRL in the early endocytic pathway consistent with the predominant localization of its preferred substrates, PI(4,5)P2 and PI(3,4,5)P3, at the cell surface. PMID:17765681

Myelodysplastic Syndromes

MedlinePlus

... with blood clotting. If you have a myelodysplastic syndrome, the stem cells do not mature into healthy ... lead to infection, anemia, or easy bleeding. Myelodysplastic syndromes often do not cause early symptoms and are ...

A Case of Gorlin-Goltz Syndrome Presented with Psychiatric Features

PubMed Central

AlSabousi, Mouza; Salih, Badr; AlHassani, Ghanem; Osman, Ossama T.

2014-01-01

We report a case of a 34-year-old male who presented with an acute onset of pleomorphic psychiatric features. Upon examination we later diagnosed him with Gorlin-Goltz syndrome based on clinical and radiological findings that are characteristic for this rare autosomal dominant syndrome. His psychiatric manifestations included irritability, aggressive behavior, labile mood, hallucinations, paranoid delusions, and transient cognitive impairment. His past history indicated surgical excision of pigmented lesion in the left lower eyelid which turned out to be a basal cell carcinoma. His past visits to dermatology clinics indicated pitted keratosis involving hands, callosities, and seborrheic dermatitis. There were numerous palmar pits, and Brain CT Head scan revealed extensive calcification along falx cerebri and around the cerebellar vermis. He had low (20 ng/L) vitamin D level and high parathyroid hormone level. The patient improved using antipsychotic medications and vitamin D supplementations for symptomatic management and was discharged with a plan for multispecialty outpatient follow-up. This case highlights the importance of considering rare organic etiologies in the differential diagnosis of patients presenting with psychiatric symptoms. This is of vital importance for early intervention to prevent complications and for better outcomes of the coexistent diseases. PMID:24803734

Vegetarian diet as a risk factor for symptomatic gallstone disease.

PubMed

McConnell, T J; Appleby, P N; Key, T J

2017-06-01

Previous small studies have shown either no difference or a lower risk of symptomatic gallstone disease in vegetarians than in non-vegetarians. This study examined the incidence of symptomatic gallstone disease in a cohort of British vegetarians and non-vegetarians, and investigated the associations between nutrient intake and risk of symptomatic gallstone disease. The data were analysed from 49 652 adults enroled in the European Prospective Investigation into Cancer and Nutrition (EPIC)-Oxford study, one-third of whom were vegetarian. The linked databases of hospital records were used to identify incident cases. Risk by diet group was estimated using Cox proportional hazards models. Further analysis quantified risk by intakes of selected macronutrients. There were 1182 cases of symptomatic gallstone disease during 687 822 person-years of follow-up (mean=13.85 years). There was a large significant association between increasing body mass index (BMI) and risk of developing symptomatic gallstone disease (overall trend P<0.001). After adjustment for BMI and other risk factors, vegetarians had a moderately increased risk compared with non-vegetarians (HR: 1.22; 95% CI: 1.06-1.41; P=0.006). Although starch consumption was positively associated with gallstones risk (P=0.002 for trend), it did not explain the increased risk in vegetarians. There is a highly significant association of increased BMI with risk of symptomatic gallstone disease. After adjusting for BMI, there is a small but statistically significant positive association between vegetarian diet and symptomatic gallstone disease.

Gorlin-Goltz Syndrome

PubMed Central

Mehta, DN; Raval, N; Patadiya, H; Tarsariya, V

2014-01-01

The Gorlin-Goltz syndrome (GGS) (the nevoid basal cell carcinoma syndrome) is a rare autosomal dominant syndrome caused due to mutations in the patched gene found on chromosome arm 9 q. It shows high penetrance and variable expressivity; is characterized by basal cell carcinomas, odontogenic keratocysts, palmar and/or plantar pits and ectopic calcifications of the falx cerebri. Until date, very few cases of GGS have been reported in India. Early diagnosis and treatment as well as genetic counseling are essential for this syndrome. A rare case report of a patient with characteristic features of GGS diagnosed at a rural dental college of Gujarat, India is presented here. This case report draws attention of the valuable role of dentist in diagnosis and early management of this syndrome. PMID:24761254

Early detection of contagious diseases

DOEpatents

Colston, Jr., Billy W.; Milanovich, Fred P [Lafayette, CA; Estacio, Pedro [Mission San Jose, CA; Chang, John [Walnut Creek, CA

2011-08-09

This invention provides an electronic proximity apparatus and a surveillance method using such an apparatus for alerting individuals that are exposed to a contagious disease. When a person becomes symptomatic and is diagnosed as positive for a given contagious agent, individuals that have recently maintained a threshold proximity with respect to an infected individual are notified and advised to seek immediate medial care. Treatment of individuals in the very early phases of infection (pre-symptomatic) significantly reduces contagiousness of the infected population first exposed to the contagious disease, thus preventing spread of the disease throughout the general population.

A proteomic analysis identifies candidate early biomarkers to predict ovarian hyperstimulation syndrome in polycystic ovarian syndrome patients.

PubMed

Wu, Lan; Sun, Yazhou; Wan, Jun; Luan, Ting; Cheng, Qing; Tan, Yong

2017-07-01

Ovarian hyperstimulation syndrome (OHSS) is a potentially life‑threatening, iatrogenic complication that occurs during assisted reproduction. Polycystic ovarian syndrome (PCOS) significantly increases the risk of OHSS during controlled ovarian stimulation. Therefore, a more effective early prediction technique is required in PCOS patients. Quantitative proteomic analysis of serum proteins indicates the potential diagnostic value for disease. In the present study, the authors revealed the differentially expressed proteins in OHSS patients with PCOS as new diagnostic biomarkers. The promising proteins obtained from liquid chromatography‑mass spectrometry were subjected to ELISA and western blotting assay for further confirmation. A total of 57 proteins were identified with significant difference, of which 29 proteins were upregulated and 28 proteins were downregulated in OHSS patients. Haptoglobin, fibrinogen and lipoprotein lipase were selected as candidate biomarkers. Receiver operating characteristic curve analysis demonstrated all three proteins may have potential as biomarkers to discriminate OHSS in PCOS patients. Haptoglobin, fibrinogen and lipoprotein lipase have never been reported as a predictive marker of OHSS in PCOS patients, and their potential roles in OHSS occurrence deserve further studies. The proteomic results reported in the present study may gain deeper insights into the pathophysiology of OHSS.

Vertical parasagittal hemispherotomy for Sturge-Weber syndrome in early infancy: case report and literature review.

PubMed

Liu, Xiangyu; Otsuki, Taisuke; Takahashi, Akio; Kaido, Takanobu

2016-01-01

The authors here present a rare case of a 3-month-old infant with unilateral Sturge-Weber syndrome (SWS) who had excellent seizure control and no aggravation of previous existed neurological deficits after vertical parasagittal hemispherotomy (VPH). To our knowledge, this patient with SWS was the youngest one who received VPH. The use of VPH results in a successful treatment of intractable epilepsy in a patient with seizure onset in early infancy. At follow-up, the patient's neurodevelopmental status has been improved since the surgery. It is generally accepted that early-onset seizures in children with SWS are associated with worse neurological and developmental outcomes. However, when surgical treatment should be considered and how it should be performed remain a longstanding controversy. We promote early surgery in children with SWS and early-onset epilepsy. We suggest that VPH may be a useful adjuvant in the management of SWS with refractory epilepsy in early infancy and this procedure carries low neurological risk.

Management of symptomatic vertebral hemangioma: follow-up of 6 patients.

PubMed

Blecher, Ronen; Smorgick, Yossi; Anekstein, Yoram; Peer, Amir; Mirovsky, Yigal

2011-05-01

Retrospective study. To analyze our experience in the treatment of symptomatic vertebral hemangioma, review the relevant literature, and propose a management algorithm. Hemangioma is one of the commonest benign neoplasms affecting the vertebral column. These usually dormant lesions may become symptomatic by causing pain, neurologic deficit, or both. Several treatment modalities are available in the management of such symptomatic conversion. The clinical and radiographic data of 6 patients diagnosed with symptomatic vertebral hemangioma and treated at our medical center over a period of 10 years were reviewed and analyzed retrospectively. Six patients were diagnosed with symptomatic vertebral hemangioma between 1998 and 2008. The lesions occupied the thoracic, lumbar, or multiple segments. Our patients presented with either simple or radicular back pain. One patient had muscle weakness, 3 revealed sensory impairment, and the remaining 2 were neurologically intact. Four patients underwent preoperative transarterial embolization followed by laminectomy and vertebroplasty of the affected level and 2 patients were treated with vertebroplasty alone. A 35-year-old woman presented during pregnancy. Her clinical course during evaluation was complicated by an acute pulmonary embolic event that necessitated installation of an inferior vena cava filter. All patients had an overall uneventful postoperative course and reported symptomatic relief to varying degrees, at an average follow-up period of 35 months. Symptomatic hemangioma involving the vertebral column may pose a therapeutic challenge, often requiring the active involvement of several disciplines. A review of the relevant literature, however, discloses only few management algorithms for such lesions. The coupling of preoperative transarterial embolization followed by vertebroplasty, with or without surgical decompression depending on the patients' presenting symptoms, is a relatively safe treatment and may offer long

A Population-Based Study of Long-term Outcomes of Cryptogenic Focal Epilepsy in Childhood: Cryptogenic Epilepsy is NOT Probably Symptomatic Epilepsy

PubMed Central

Wirrell, Elaine C; Grossardt, Brandon R; So, Elson L; Nickels, Katherine C

2011-01-01

Purpose To compare long-term outcome in a population-based group of children with cryptogenic vs symptomatic focal epilepsy diagnosed from 1980–2004 and to define the course of epilepsy in the cryptogenic group. Methods We identified all children residing in Olmsted County, MN, 1 month through 17 years with newly diagnosed, non-idiopathic focal epilepsy from 1980–2004. Children with idiopathic partial epilepsy syndromes were excluded. Medical records were reviewed to determine etiology, results of imaging and EEG studies, treatments used, and long-term outcome. Children were defined as having symptomatic epilepsy if they had a known genetic or structural/metabolic etiology, and as cryptogenic if they did not. Key Findings Of 359 children with newly-diagnosed epilepsy, 215 (60%) had non-idiopathic focal epilepsy. Of these, 206 (96%) were followed for more than 12 months. Ninety five children (46%) were classified as symptomatic. Median follow-up from diagnosis was similar in both groups, being 157 months (25%ile, 75%ile 89, 233) in the cryptogenic group vs 134 months (25%ile, 75%ile 78, 220) in the symptomatic group (p=0.26). Of 111 cryptogenic cases, 66% had normal cognition. Long-term outcome was significantly better in those with cryptogenic vs symptomatic etiology (intractable epilepsy at last follow-up, 7% vs 40%, p<0.001; seizure-freedom at last follow-up, 81% vs 55%, p<0.001). Of those who achieved seizure-freedom at final follow-up, 68% of the cryptogenic group versus only 46% of the symptomatic group were off antiepileptic medications (p=0.01). One third of the cryptogenic group had a remarkably benign disorder, with no seizures seen after initiation of medication, or in those who were untreated, after the second afebrile seizure. A further 5% had seizures within the first year but remained seizure-free thereafter. With the exception of perinatal complications, which predicted against seizure remission, no other factors were found to significantly

A novel CDKL5 mutation in a 47,XXY boy with the early-onset seizure variant of Rett syndrome.

PubMed

Sartori, Stefano; Di Rosa, Gabriella; Polli, Roberta; Bettella, Elisa; Tricomi, Giovanni; Tortorella, Gaetano; Murgia, Alessandra

2009-02-01

Mutations of the cyclin-dependent kinase-like 5 gene (CDKL5), reported almost exclusively in female subjects, have been recently found to be the cause of a phenotype overlapping Rett syndrome with early-onset epileptic encephalopathy. We describe the first CDKL5 mutation detected in a male individual with 47,XXY karyotype. This previously unreported, de novo, mutation truncates the large CDKL5 COOH-terminal region, thought to be crucial for the proper sub-cellular localization of the CDKL5 protein. The resulting phenotype is characterized by a severe early-onset epileptic encephalopathy, global developmental delay, and profound intellectual and motor impairment with features reminiscent of Rett syndrome. In light of the data presented we discuss the possible phenotypic modulatory effects of the supernumerary wild type X allele and pattern of X chromosome inactivation and stress the importance of considering the causal involvement of CDKL5 in developmentally delayed males with early-onset seizures. (c) 2009 Wiley-Liss, Inc.

Early relapse of Burkitt lymphoma heralded by a bone marrow necrosis and numb chin syndrome successfully treated with allogeneic stem cell transplantation

PubMed Central

Cerny, Jan; Devitt, Katherine; Yu, Hongbo; Ramanathan, Muthalagu; Woda, Bruce; Nath, Rajneesh

2014-01-01

The optimal salvage therapy for patients with relapsed Burkitt lymphoma is unknown. Bone marrow necrosis is an underreported (<1% of bone marrow failures). Numb chin syndrome is another rare syndrome associated with aggressive malignancies. Survival of these syndromes is dictated by the underlying disease and is usually dismal. Our 35-year-old patient experienced an early relapse of Burkitt lymphoma accompanied by syndromes, achieved second complete remission and underwent allogeneic stem cell transplantation. He remains alive and well >2 years after the transplant. To our knowledge, this is the longest reported survival of the two syndromes in the setting of BL relapse. PMID:25068102

Early Learning and Adaptive Behaviour in Toddlers with Down Syndrome: Evidence for an Emerging Behavioural Phenotype?

ERIC Educational Resources Information Center

Fidler, Deborah; Hepburn, Susan; Rogers, Sally

2006-01-01

Background: Though the Down syndrome behavioural phenotype has been described as involving relative strengths in visuo-spatial processing and sociability, and relative weaknesses in verbal skills and motor planning, the early emergence of this phenotypic pattern of strengths and weaknesses has not yet been fully explored. Method: In this study, we…

Sjogren’s syndrome: a case report

NASA Astrophysics Data System (ADS)

Sunata, A.; Marpaung, B.

2018-03-01

The incidence of Sjogren’s Syndrome was estimated 4 in 100.000 of these cases with the prevalence is 0.2% to 2.7% of the population. Predominant sex female/male ratio is approximately 10:1 with peak incidence is in the fourth and fifth decade. A 29-year-old woman had dry eyes and recurrent sensation of sand in the eyes for two years. Schimmer’s test was positive ≤5mm in 5 minutes both, and the autoantibodies SSA and SSB were positive. Without history head or neck radiation and the result of laboratory examination hepatitis C and HIV negative. Until now there is no satisfying therapy for Sjogren Syndrome, only supportive specific to symptomatic can be treated. We reported a case of Sjogren Syndrome with dry eyes symptom, polyathralgia, and fatigue. Muscarinic agonist pilocarpine 5mg PO qid and hydroxychloroquine were given.

Is early-onset microsatellite and chromosomally stable colorectal cancer a hallmark of a genetic susceptibility syndrome?

PubMed

Kets, C M; van Krieken, J H J M; van Erp, P E J; Feuth, T; Jacobs, Y H A; Brunner, H G; Ligtenberg, M J L; Hoogerbrugge, N

2008-02-15

Most colorectal cancers show either microsatellite or chromosomal instability. A subset of colorectal cancers, especially those diagnosed at young age, is known to show neither of these forms of genetic instability and thus might have a distinct pathogenesis. Colorectal cancers diagnosed at young age are suggestive for hereditary predisposition. We investigate whether such early-onset microsatellite and chromosomally stable colorectal cancers are a hallmark of a genetic susceptibility syndrome. The ploidy status of microsatellite stable (familial) colorectal cancers of patients diagnosed before age 50 (n = 127) was analyzed in relation to the histopathological characteristics and family history. As a control the ploidy status of sporadic colorectal cancer, with normal staining of mismatch repair proteins, diagnosed at the age of 69 years or above (n = 70) was determined. A diploid DNA content was used as a marker for chromosomal stability. Within the group of patients with (familial) early onset microsatellite stable colorectal cancer the chromosomally stable tumors did not differ from chromosomally unstable tumors with respect to mean age at diagnosis, fulfillment of Amsterdam criteria or pathological characteristics. Segregation analysis did not reveal any family with microsatellite and chromosomally stable colorectal cancer in 2 relatives. The prevalence of microsatellite and chromosomally stable colorectal cancer was not significantly different for the early and late onset group (28 and 21%, respectively). We find no evidence that early-onset microsatellite and chromosomally stable colorectal cancer is a hallmark of a hereditary colorectal cancer syndrome. (c) 2007 Wiley-Liss, Inc.

Fat embolism due to bilateral femoral fracture: a case report.

PubMed

Porpodis, Konstantinos; Karanikas, Michael; Zarogoulidis, Paul; Konoglou, Maria; Domvri, Kalliopi; Mitrakas, Alexandros; Boglou, Panagiotis; Bakali, Stamatia; Iordanidis, Alkis; Zervas, Vasilis; Courcoutsakis, Nikolaos; Katsikogiannis, Nikolaos; Zarogoulidis, Konstantinos

2012-01-01

Fat embolism syndrome is usually associated with surgery for large bone fractures. Symptoms usually occur within 36 hours of hospitalization after traumatic injury. We present a case with fat embolism syndrome due to femur fracture. Prompt supportive treatment of the patient's respiratory system and additional pharmaceutical treatment provided the positive clinical outcome. There is no specific therapy for fat embolism syndrome; prevention, early diagnosis, and adequate symptomatic treatment are very important. Most of the studies in the last 20 years have shown that the incidence of fat embolism syndrome is reduced by early stabilization of the fractures and the risk is even further decreased with surgical correction rather than conservative management.

The posterior reversible encephalopathy syndrome.

PubMed

Sanjay, K Mandal; Partha, P Chakraborty

2008-09-01

The posterior/potentially reversible encephalopathy syndrome is a unique syndrome encountered commonly in hypertensive encephalopathy. A 13-year-old boy presented with of intermittent high grade fever, throbbing headache and non-projective vomiting for 5 days. The patient had a blood pressure of 120/80 mmHg but fundoscopy documented grade 3 hypertensive retinopathy. The patient improved symptomatically following conservative management. However, on the 5(th) post-admission day headache reappeared, and blood pressure measured at that time was 240/120 mmHg. Neuroimaging suggested white matter abnormalities. Search for the etiology of secondary hypertension led to the diagnosis of pheochromocytoma. Repeated MRI after successful surgical excision of the tumor patient showed reversal of white matter abnormalities. Reversible leucoencephalopathy due to pheochromocytoma have not been documented in literature previously.

Amisulpride and symptomatic bradycardia: a case report.

PubMed

Huang, Li-Chung; Huang, Li-Yen; Tseng, Shih-Yen; Hou, Yuh-Ming; Hsiao, Cheng-Cheng

2015-01-01

Amisulpride is a second-generation antipsychotic agent indicated for the treatment of schizophrenia and other major psychotic illnesses. Amisulpride-induced bradycardia is a rare condition of unknown etiology and mechanism. Asymptomatic bradycardia has been associated with amisulpride in only two cases. In our case, the association was rated as "probable" on the Naranjo adverse drug reaction probability scale. Case report. A 45-year-old male patient developed symptomatic bradycardia during usage of amisulpride (400-800 mg/day), which dramatically improved after the complete termination of amisulpride usage. The psychiatric condition remained relatively stable without bradycardia after administration of another antipsychotic agent [risperidone (3 mg/day)]. This is the first case report of symptomatic bradycardia associated with the use of amisulpride. Although bradycardia is a rare adverse reaction to antipsychotics, this finding may alert psychiatrists and physicians to this antipsychotic drug side effect. Further study is needed to disclose the role of antipsychotics in bringing about symptomatic bradycardia. Copyright © 2015 Elsevier Inc. All rights reserved.

Cardiac computed tomography in patients with symptomatic new-onset atrial fibrillation, rule-out acute coronary syndrome, but with intermediate pretest probability for coronary artery disease admitted to a chest pain unit.

PubMed

Koopmann, Matthias; Hinrichs, Liane; Olligs, Jan; Lichtenberg, Michael; Eckardt, Lars; Böse, Dirk; Möhlenkamp, Stefan; Waltenberger, Johannes; Breuckmann, Frank

2018-01-24

Atrial fibrillation (AF) and coronary artery disease (CAD) may be encountered coincidently in a large portion of patients. However, data on coronary artery calcium burden in such patients are lacking. Thus, we sought to determine the value of cardiac computed tomography (CCT) in patients presenting with new-onset AF associated with an intermediate pretest probability for CAD admitted to a chest pain unit (CPU). Calcium scores (CS) of 73 new-onset, symptomatic AF subjects without typical clinical, electrocardiographic, or laboratory signs of acute coronary syndrome (ACS) admitted to our CPU were analyzed. In addition, results from computed tomography angiography (CTA) were related to coronary angiography findings whenever available. Calcium scores of zero were found in 25%. Median Agatston score was 77 (interquartile range: 1-270) with gender- and territory-specific dispersal. CS scores above average were present in about 50%, high (> 400)-to-very high (> 1000) CS scores were found in 22%. Overall percentile ranking showed a relative accordance to the reference percentile distribution. Additional CTA was performed in 47%, revealing stenoses in 12%. Coronary angiography was performed in 22% and resulted in coronary intervention or surgical revascularization in 7%. On univariate analysis, CS > 50th percentile failed to serve as an independent determinant of significant stenosis during catheterization. Within a CPU setting, relevant CAD was excluded or confirmed in almost 50%, the latter with a high proportion of coronary angiographies and subsequent coronary interventions, underlining the diagnostic value of CCT in symptomatic, non-ACS, new-onset AF patients when admitted to a CPU.

Systematic Review of Metabolic Syndrome Biomarkers: A Panel for Early Detection, Management, and Risk Stratification in the West Virginian Population

PubMed Central

Srikanthan, Krithika; Feyh, Andrew; Visweshwar, Haresh; Shapiro, Joseph I.; Sodhi, Komal

2016-01-01

Introduction: Metabolic syndrome represents a cluster of related metabolic abnormalities, including central obesity, hypertension, dyslipidemia, hyperglycemia, and insulin resistance, with central obesity and insulin resistance in particular recognized as causative factors. These metabolic derangements present significant risk factors for cardiovascular disease, which is commonly recognized as the primary clinical outcome, although other outcomes are possible. Metabolic syndrome is a progressive condition that encompasses a wide array of disorders with specific metabolic abnormalities presenting at different times. These abnormalities can be detected and monitored via serum biomarkers. This review will compile a list of promising biomarkers that are associated with metabolic syndrome and this panel can aid in early detection and management of metabolic syndrome in high risk populations, such as in West Virginia. Methods: A literature review was conducted using PubMed, Science Direct, and Google Scholar to search for markers related to metabolic syndrome. Biomarkers searched included adipokines (leptin, adiponectin), neuropeptides (ghrelin), pro-inflammatory cytokines (IL-6, TNF-α), anti-inflammatory cytokines (IL-10), markers of antioxidant status (OxLDL, PON-1, uric acid), and prothrombic factors (PAI-1). Results: According to the literature, the concentrations of pro-inflammatory cytokines (IL-6, TNF-α), markers of pro-oxidant status (OxLDL, uric acid), and prothrombic factors (PAI-1) were elevated in metabolic syndrome. Additionally, leptin concentrations were found to be elevated in metabolic syndrome as well, likely due to leptin resistance. In contrast, concentrations of anti-inflammatory cytokines (IL-10), ghrelin, adiponectin, and antioxidant factors (PON-1) were decreased in metabolic syndrome, and these decreases also correlated with specific disorders within the cluster. Conclusion: Based on the evidence presented within the literature, the

Accelerated hematopoietic syndrome after radiation doses bridging hematopoietic (H-ARS) and gastrointestinal (GI-ARS) acute radiation syndrome: early hematological changes and systemic inflammatory response syndrome in minipig.

PubMed

Moroni, Maria; Elliott, Thomas B; Deutz, Nicolaas E; Olsen, Cara H; Owens, Rossitsa; Christensen, Christine; Lombardini, Eric D; Whitnall, Mark H

2014-05-01

To characterize acute radiation syndrome (ARS) sequelae at doses intermediate between the bone marrow (H-ARS) and full gastrointestinal (GI-ARS) syndrome. Male minipigs, approximately 5 months old, 9-12 kg in weight, were irradiated with Cobalt-60 (total body, bilateral gamma irradiation, 0.6 Gy/min). Endpoints were 10-day survival, gastrointestinal histology, plasma citrulline, bacterial translocation, vomiting, diarrhea, vital signs, systemic inflammatory response syndrome (SIRS), febrile neutropenia (FN). We exposed animals to doses (2.2-5.0 Gy) above those causing H-ARS (1.6-2.0 Gy), and evaluated development of ARS. Compared to what was observed during H-ARS (historical data: Moroni et al. 2011a , 2011c ), doses above 2 Gy produced signs of increasingly severe pulmonary damage, faster deterioration of clinical conditions, and faster increases in levels of C-reactive protein (CRP). In the range of 4.6-5.0 Gy, animals died by day 9-10; signs of the classic GI syndrome, as measured by diarrhea, vomiting and bacterial translocation, did not occur. At doses above 2 Gy we observed transient reduction in circulating citrulline levels, and animals exhibited earlier depletion of blood elements and faster onset of SIRS and FN. An accelerated hematopoietic subsyndrome (AH-ARS) is observed at radiation doses between those producing H-ARS and GI-ARS. It is characterized by early onset of SIRS and FN, and greater lung damage, compared to H-ARS.

[Parotid involvement in Churg-Strauss syndrome].

PubMed

Bonnet, R; Bertin, H; Delemazure, A S; Clairand, R; Mercier, J; Corre, P

2014-06-01

Churg-Strauss syndrome is a rare systemic vascularitis. This disease causes eosinophilic tissue infiltration. The most frequent manifestations are cortico-dependent asthma, mono- or polyneuropathy, paranasal sinus polyposis, and digestive and renal dysfunction. Salivary glands are very rarely involved. We describe a case of CSS in a patient presenting with bilateral parotid swelling. The morphological study of salivary glands revealed an unusual thickening of the salivary duct walls. Salivary gland involvement in Churg and Strauss syndrome can be difficult to demonstrate histologically; it does not usually present in the clinical foreground of the disease, and can be a source of misdiagnosis. The biopsy should be performed in the symptomatic gland, away from any previous corticoid treatment. Copyright © 2014 Elsevier Masson SAS. All rights reserved.

Early Life Origins of Metabolic Syndrome: The Role of Environmental Toxicants

PubMed Central

Wang, Guoying; Chen, Zhu; Bartell, Tami; Wang, Xiaobin

2014-01-01

Metabolic syndrome (MetS) affects more than 47 million people in the U.S. Even more alarming, MetS, once regarded as an “adult problem”, has become increasingly common in children. To date, most related research and intervention efforts have occurred in the adult medicine arena, with limited understanding of the root causes and lengthy latency of MetS. This review highlights new science on the early life origins of MetS, with a particular focus on exposure to two groups of environmental toxicants: endocrine disrupting chemicals (EDCs) and metals during the prenatal and early postnatal periods, and their specific effects and important differences in the development of MetS. It also summarizes available data on epigenetic effects, including the role of EDCs in the androgen/estrogen pathways. Emerging evidence supports the link between exposures to environmental toxicants during early life and the development of MetS later in life. Additional research is needed to address important research gaps in this area, including prospective birth cohort studies to delineate temporal and dose-response relationships, important differences in the effects of various environmental toxicants and their joint effects on MetS, as well as epigenetic mechanisms underlying the effects of specific toxicants such as EDCs and metals. PMID:24883264

Chronic calcific constrictive pericarditis complicating Churg-Strauss syndrome: first reported case.

PubMed

Aboukhoudir, Falah; Pansieri, Michel; Rekik, Sofiene

2014-10-01

Churg-Strauss syndrome is a necrotizing systemic vasculitis characterized by extravascular granulomas and eosinophilic infiltrates of small vessels. Although cardiac complications are considered to be relatively common, no case of constrictive calcified pericarditis has ever been previously described in this setting. In this report, we present the case of a 46-year-old man with Churg-Strauss syndrome, in whom we were able to document the development of symptomatic calcific constrictive pericarditis during a 10-year period despite long-term corticosteroid therapy. Georg Thieme Verlag KG Stuttgart · New York.

What Is Usher Syndrome?

MedlinePlus

... and usually appears during adolescence or early adulthood. Balance may also be affected in people with Usher syndrome. Symptoms and disease progression vary from person to person. There are three general categories of Usher syndrome. People with Usher syndrome ...

Irritable bowel syndrome--the main recommendations.

PubMed

Andresen, Viola; Keller, Jutta; Pehl, Christian; Schemann, Michael; Preiss, Jan; Layer, Peter

2011-11-01

Irritable bowel syndrome is characterized by chronic abdominal symptoms and irregular bowel movements without any cause than can be revealed by routine diagnostic assessment. In recent years, its pathophysiology has come to be much better understood, and new therapeutic approaches have been developed. These advances were taken into consideration and assessed for their relevance to clinical practice in the framework of a new interdisciplinary S3 guideline. A systematic search of the literature retrieved a total 5573 articles, from which 243 were selected on the basis of criteria relating to their form and content, individually assessed, and summarized in evidence tables. The recommendations formulated in this way were discussed in a Delphi procedure and a consensus conference, then accordingly modified and finalized. Variable symptom constellations are caused by disturbances of gastrointestinal regulation at multiple levels. The diagnosis of irritable bowel syndrome requires both chronic bowel symptoms that interfere with everyday life and the exclusion of relevant differential diagnoses. Its treatment is based on general therapeutic principles, dietary recommendations, psychological components, and symptomatic medication. Bulking agents, laxatives, spasmolytics, loperamide, and probiotic agents are recommended (with variable recommendation strengths), as are--for selected patients--antidepressants, 5-HT4 agonists, 5-HT3 antagonists, and topical antibiotics. The first German S3 guideline on irritable bowel syndrome translates up-to-date scientific knowledge as represented in current publications into concrete recommendations for diagnosis and treatment in clinical practice. In the future, it is likely that further causative pathophysiological mechanisms will be discovered; this should lead, in turn, to the development of new, causally directed treatments, which will supplement or replace the traditional, purely symptomatic treatments that are still in use today.

Cannabinoids and Symptomatic Bradycardia.

PubMed

Heckle, Mark R; Nayyar, Mannu; Sinclair, Scott E; Weber, Karl T

2018-01-01

Cannabinoids, the bioactive components of marijuana, have adverse cardiovascular consequences, including symptomatic sinus bradycardia, sinus arrest and ventricular asystole. Physicians should be aware of these deleterious consequences which can appear in otherwise healthy persons who are chronic marijuana users. Copyright © 2018 Southern Society for Clinical Investigation. Published by Elsevier Inc. All rights reserved.

Androgen circle of polycystic ovary syndrome.

PubMed

Homburg, Roy

2009-07-01

Although the aetiology of polycystic ovary syndrome (PCOS) is still not known and the search for causative genes is proving elusive, it is generally agreed that hyperandrogenism is at the heart of the syndrome. Here, it is proposed that excess androgens are the root cause of PCOS starting from their influence on the female fetus in programming gene expression, producing the characteristic signs and symptoms which are then exacerbated by a propagation of excess ovarian androgen production from multiple small follicles, anovulation and insulin resistance in the reproductive life-span, thus setting up a vicious perpetual circle of androgen excess. This opinion paper, rather than being a full-scale review, is intentionally biased in support of this hypothesis that androgen excess is the 'root of all evil' in PCOS; in the hope that its acceptance could lead to more direct treatment of the syndrome in all its facets rather than the symptomatic treatment of side effects of androgen excess that we are addressing today.

[Symptomatic hypersomnia due to orexin deficiency in hypothalamic lesions].

PubMed

Kanbayashi, Takashi; Arii, Junko; Kubota, Hiroaki; Yano, Tamami; Kashiwagi, Mitsuru; Yoshikawa, Sousuke; Tohyama, Jun; Sawaishi, Yukio

2006-09-01

Narcolepsy is characterized by excessive daytime sleepiness (EDS), cataplexy and other abnormal manifestations of REM sleep. Recently, it was discovered that the pathophysiology of idiopathic narcolepsy-cataplexy is linked to orexin ligand deficiency in the brain and cerebrospinal fluid. Orexin neurons localize in the posterior hypothalamic area, which was previously described as "waking center" by von Economo in 1920s. Hypersomnia due to orexin ligand deficiency can also occur during the course of other neurological conditions, such as hypothalamic tumor, encephalopathy and demyelinating disorder (i.e. symptomatic hypersomnia). We experienced 8 pediatric cases with symptomatic hypersomnia. These cases were diagnosed as brain tumor (n = 2), head trauma (n = 1), encephalopathy (n = 1), demyelinating disorder (n = 3) and infarction (n = 1). Six pediatric cases with orexin measurements from the literatures were additionally included and total 14 cases were studied. Although it is difficult to rule out the comorbidity of idiopathic narcolepsy in some cases, a review of the case histories reveals numerous unquestionable cases of symptomatic hypersomnia. In these cases, the occurrences of the hypersomnia run parallel with the rise and fall of the causative diseases. Most of symptomatic hypersomnia cases show both extended nocturnal sleep time and EDS consisting of prolonged sleep episodes of NREM sleep. The features of nocturnal sleep and EDS in symptomatic hypersomnia are more similar to idiopathic hypersomnia than to narcolepsy.

Structural Associations of Symptomatic Knee Osteoarthritis

PubMed Central

Stoppiello, Laura A; Mapp, Paul I; Wilson, Deborah; Hill, Roger; Scammell, Brigitte E; Walsh, David A

2014-01-01

Objective Structural changes of osteoarthritis (OA) may occur in the absence of pain. In this study, we aimed to identify histopathologic features that are associated with symptomatic knee OA. Methods Medial tibial plateaus and synovium samples were obtained at the time of total knee replacement (TKR) surgery for OA (advanced OA group) or were obtained postmortem from subjects who had not sought medical attention for knee pain during the last year of life (non-OA control group). To identify features of OA, we compared the patients with advanced OA with the age-matched non-OA controls (n = 26 per group). To identify OA features associated with symptoms, we compared two additional groups of subjects who were matched for severity of chondropathy (n = 29 per group): patients undergoing TKR for symptomatic OA (symptomatic chondropathy group) and postmortem subjects with similar severity of chondropathy who were asymptomatic during the last year of life (asymptomatic chondropathy group). The histologic features of the samples were graded, and immunoreactivities for macrophages (CD68) and nerve growth factor (NGF) in the synovium were quantified. The cellular localization of synovial NGF was determined by double immunofluorescence analysis. Results Advanced OA cases displayed more severe changes in the synovium (synovitis, increased synovial NGF, and CD68-immunoreactive macrophages) and cartilage (loss of cartilage surface integrity, loss of proteoglycan, tidemark breaching, and alterations in chondrocyte morphology) than did the non-OA controls. Synovial NGF was localized predominantly to fibroblasts and to some macrophages. The symptomatic chondropathy group displayed greater levels of synovitis, synovial NGF, and loss of cartilage integrity, in addition to alterations in chondrocyte morphology, than did the asymptomatic chondropathy group (P < 0.05 for each comparison). Conclusion Synovitis, increased synovial NGF, alterations in chondrocyte morphology, and loss of

Single-Session CT-Guided Percutaneous Microwave Ablation of Bilateral Adrenal Gland Hyperplasia Due to Ectopic ACTH Syndrome

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

Sarma, Asha, E-mail: ashasarma@gmail.com; Shyn, Paul B., E-mail: pshyn@partners.org; Vivian, Mark A.

Bilateral adrenalectomy is currently the only available treatment for adrenocorticotropic hormone (ACTH)-dependent Cushing’s syndrome (ectopic ACTH syndrome) that is refractory to pharmacologic therapy. We describe two patients with refractory ectopic ACTH syndrome who were treated with CT-guided percutaneous microwave ablation of both hyperplastic adrenal glands in a single session: One was not a surgical candidate, and the other had undergone unsuccessful surgery. Following the procedure, both patients achieved substantial decreases in serum cortisol, symptomatic improvement, and decreased anti-hypertensive medication requirements.

Lower likelihood of cardiac procedures after acute coronary syndrome in patients with human immunodeficiency virus/acquired immunodeficiency syndrome.

PubMed

Clement, Meredith E; Lin, Li; Navar, Ann Marie; Okeke, Nwora Lance; Naggie, Susanna; Douglas, Pamela S

2018-02-01

Cardiovascular disease (CVD) is an increasing cause of morbidity and mortality in human immunodeficiency virus (HIV)-infected adults; however, this population may be less likely to receive interventions during hospitalization for acute coronary syndrome (ACS). The degree to which this disparity can be attributed to poorly controlled HIV infection is unknown.In this large cohort study, we used the National Inpatient Sample (NIS) to compare rates of cardiac procedures among patients with asymptomatic HIV-infection, symptomatic acquired immunodeficiency syndrome (AIDS), and uninfected adults hospitalized with ACS from 2009 to 2012. Multivariable analysis was used to compare procedure rates by HIV status, with appropriate weighting to account for NIS sampling design including stratification and hospital clustering.The dataset included 1,091,759 ACS hospitalizations, 0.35% of which (n = 3783) were in HIV-infected patients. Patients with symptomatic AIDS, asymptomatic HIV, and uninfected patients differed by sex, race, and income status. Overall rates of cardiac catheterization and revascularization were 53.3% and 37.4%, respectively. In multivariable regression, we found that relative to uninfected patients, those with symptomatic AIDS were less likely to undergo catheterization (odds ratio [OR] 0.48, confidence interval [CI] 0.43-0.55), percutaneous coronary intervention (OR 0.69, CI 0.59-0.79), and coronary artery bypass grafting (0.75, CI 0.61-0.93). No difference was seen for those with asymptomatic HIV relative to uninfected patients (OR 0.93, CI 0.81-1.07; OR 1.06, CI 0.93-1.21; OR 0.88, CI 0.72-1.06, respectively).We found that lower rates of cardiovascular procedures in HIV-infected patients were primarily driven by less frequent procedures in those with AIDS.

Lower likelihood of cardiac procedures after acute coronary syndrome in patients with human immunodeficiency virus/acquired immunodeficiency syndrome

PubMed Central

Clement, Meredith E.; Lin, Li; Navar, Ann Marie; Okeke, Nwora Lance; Naggie, Susanna; Douglas, Pamela S.

2018-01-01

Abstract Cardiovascular disease (CVD) is an increasing cause of morbidity and mortality in human immunodeficiency virus (HIV)-infected adults; however, this population may be less likely to receive interventions during hospitalization for acute coronary syndrome (ACS). The degree to which this disparity can be attributed to poorly controlled HIV infection is unknown. In this large cohort study, we used the National Inpatient Sample (NIS) to compare rates of cardiac procedures among patients with asymptomatic HIV-infection, symptomatic acquired immunodeficiency syndrome (AIDS), and uninfected adults hospitalized with ACS from 2009 to 2012. Multivariable analysis was used to compare procedure rates by HIV status, with appropriate weighting to account for NIS sampling design including stratification and hospital clustering. The dataset included 1,091,759 ACS hospitalizations, 0.35% of which (n = 3783) were in HIV-infected patients. Patients with symptomatic AIDS, asymptomatic HIV, and uninfected patients differed by sex, race, and income status. Overall rates of cardiac catheterization and revascularization were 53.3% and 37.4%, respectively. In multivariable regression, we found that relative to uninfected patients, those with symptomatic AIDS were less likely to undergo catheterization (odds ratio [OR] 0.48, confidence interval [CI] 0.43–0.55), percutaneous coronary intervention (OR 0.69, CI 0.59–0.79), and coronary artery bypass grafting (0.75, CI 0.61–0.93). No difference was seen for those with asymptomatic HIV relative to uninfected patients (OR 0.93, CI 0.81–1.07; OR 1.06, CI 0.93–1.21; OR 0.88, CI 0.72–1.06, respectively). We found that lower rates of cardiovascular procedures in HIV-infected patients were primarily driven by less frequent procedures in those with AIDS. PMID:29419696

Carpal Tunnel Syndrome

MedlinePlus

... a passing cramp? It could be carpal tunnel syndrome. The carpal tunnel is a narrow passageway of ... three times more likely to have carpal tunnel syndrome than men. Early diagnosis and treatment are important ...

Investigating the loss of work productivity due to symptomatic leiomyoma.

PubMed

Hasselrot, Klara; Lindeberg, Mia; Konings, Peter; Kopp Kallner, Helena

2018-01-01

Leiomyoma affects up to 50% of fertile women, leading to morbidity such as bleeding or pain. The effect of symptomatic leiomyoma on the productivity of employed women is understudied. The present study investigates productivity loss in a Swedish setting in women with symptomatic leiomyoma compared to healthy women. Women seeking care for leiomyoma and heavy menstrual bleeding (HMB) were recruited at nine Swedish sites. Healthy controls with self-perceived mild to normal menstruation were recruited at routine visits. Cases and controls were employed without option to work from home. After recruitment, all women reported the work productivity and activity impairment (WPAI) questionnaire, the pictorial blood assessment chart (PBAC) and pain on the visual analog scale (VAS). Women with symptomatic leiomyoma (n = 88) missed more working time during menses compared to asymptomatic controls (n = 34): 7.6 vs 0.2% p = 0.003. The proportion of impairment while working was also significantly higher in women with symptomatic leiomyoma (43.8 vs 12.1% p<0.001). Moreover, cases reported greater activity impairment outside office hours (43.9 vs 12.1%, p<0.001). Among healthy controls, 69.5% reported symptoms of HMB (PBAC>100). Symptomatic leiomyoma leads to loss of working hours as well as loss of productivity during working hours, and affects women in other daily activities. Increased awareness of the impact of leiomyomas on women's lives is needed, and timely and appropriate management of the symptomatic leiomyomas could improve work productivity and quality of life.

Phrenic Nerve Conduction Study in the Early Stage of Guillain-Barre Syndrome as a Predictor of Respiratory Failure.

PubMed

Sen, Barun Kumar; Pandit, Alak

2018-01-01

Guillain-Barré syndrome (GBS) has unpredictable clinical course with severe complication of respiratory failure. To identify clinical profiles and electrophysiological study particularly non-invasive Phrenic nerve conduction study in patients of early GBS to predict respiratory failure. 64 adult (age≥18yrs) patients of early GBS (onset ≤ 14 days) during the study period from January 2014 to October 2015 were evaluated by clinical profiles of age, gender, antecedent infection, time to peak disability, single breath counts, cranial nerve involvement, autonomic dysfunction and non-invasive Phrenic nerve conduction study. Patients with predisposition factors of polyneuropathy like diabetes mellitus, hypothyroidism, vitamin deficiency, renal failure were excluded. Among 64 patients abnormal phrenic nerve conduction study was seen in 65.62% cases (42/64) and 45.23% (19/42) of them developed respiratory failure. Phrenic nerve sum latency, amplitude, duration and area were abnormal in those who developed respiratory failure and they had sum of phrenic nerve latency >28 msec, sum of CMAP amplitude <300 μV, sum of CMAP duration >50 msec and sum of area < 4 mVmS. None with normal phrenic nerve study developed respiratory failure. It was found that age, gender, preceding infection, autonomic involvement and types of GB syndrome had no influence on development of respiratory failure (p>0.05). Rapid disease progression to peak disability, more severe disease, shorter single breath counts and cranial nerve involvement were seen more often in patients with respiratory failure. Abnormal Phrenic nerve conduction study in the early Guillain-Barré syndrome might be of great value independently in predicting impending respiratory failure.

Critical role of STIR MRI in early detection of post-streptococcal periostitis with dysproteinaemia (Goldbloom's syndrome).

PubMed

Papa, Riccardo; Consolaro, Alessandro; Minoia, Francesca; Caorsi, Roberta; Magnano, Gianmichele; Gattorno, Marco; Ravelli, Angelo; Picco, Paolo

2017-01-01

In 1966, Goldbloom et al. described two children who developed a peculiar clinical picture characterized by intermittent daily bone pain in the lower limbs, fever spikes, increased acute phase reactants and dysproteinaemia. The syndrome occurred two weeks after a group A β-haemolytic streptococcus infection. So far, only a few cases have been reported in the medical literature in English. We report two further cases of Goldbloom's syndrome with a review of the literature in English. Our two patients lived in the same Italian region and presented their syndrome onset a week apart. Early use of STIR MRI revealed an atypical metaphyseal hyperintensity in the femurs and tibias. X-ray showed periosteal hyperostosis. A short cycle of corticosteroids led to rapid recovery of symptoms and disappearance of bone changes. The reported cases highlight a likely under-recognised post-streptococcal inflammatory periosteal reaction and emphasise the diagnostic utility of the newer imaging modalities.

Fanconi Syndrome Secondary to Deferasirox in Diamond-Blackfan Anemia: Case Series and Recommendations for Early Diagnosis.

PubMed

Papneja, Koyelle; Bhatt, Mihir D; Kirby-Allen, Melanie; Arora, Steven; Wiernikowski, John T; Athale, Uma H

2016-08-01

Deferasirox is an oral iron chelator used to treat patients with transfusion-related iron overload. We report, from two institutions, two children with Diamond-Blackfan anemia who developed Fanconi syndrome secondary to deferasirox administration, along with a review of the literature. The current recommendation for the laboratory monitoring of patients receiving deferasirox does not include serum electrolytes or urine analysis. Thus, despite routine clinic visits and bloodwork, these two patients presented with life-threatening electrolyte abnormalities requiring hospitalization. Hence, we propose the inclusion of serum electrolytes and urine analysis as part of routine monitoring to facilitate the early diagnosis of Fanconi syndrome in the context of high doses of deferasirox therapy. © 2016 Wiley Periodicals, Inc.

Predictors for Symptomatic Intracranial Hemorrhage After Endovascular Treatment of Acute Ischemic Stroke.

PubMed

Hao, Yonggang; Yang, Dong; Wang, Huaiming; Zi, Wenjie; Zhang, Meng; Geng, Yu; Zhou, Zhiming; Wang, Wei; Xu, Haowen; Tian, Xiguang; Lv, Penghua; Liu, Yuxiu; Xiong, Yunyun; Liu, Xinfeng; Xu, Gelin

2017-05-01

Symptomatic intracranial hemorrhage (SICH) pose a major safety concern for endovascular treatment of acute ischemic stroke. This study aimed to evaluate the risk and related factors of SICH after endovascular treatment in a real-world practice. Patients with stroke treated with stent-like retrievers for recanalizing a blocked artery in anterior circulation were enrolled from 21 stroke centers in China. Intracranial hemorrhage was classified as symptomatic and asymptomatic ones according to Heidelberg Bleeding Classification. Logistic regression was used to identify predictors for SICH. Of the 632 enrolled patients, 101 (16.0%) were diagnosed with SICH within 72 hours after endovascular treatment. Ninety-day mortality was higher in patients with SICH than in patients without SICH (65.3% versus 18.8%; P <0.001). On multivariate analysis, baseline neutrophil ratio >0.83 (odds ratio [OR], 2.07; 95% confidence interval [CI], 1.24-3.46), pretreatment Alberta Stroke Program Early Computed Tomography Score of <6 (OR, 2.27; 95% CI, 1.24-4.14), stroke of cardioembolism type (OR, 1.91; 95% CI, 1.13-3.25), poor collateral circulation (OR, 1.97; 95% CI, 1.16-3.36), delay from symptoms onset to groin puncture >270 minutes (OR, 1.70; 95% CI, 1.03-2.80), >3 passes with retriever (OR, 2.55; 95% CI, 1.40-4.65) were associated with SICH after endovascular treatment. Incidence of SICH after thrombectomy is higher in Asian patients with acute ischemic stroke. Cardioembolic stroke, poor collateral circulation, delayed endovascular treatment, multiple passes with stent retriever device, lower pretreatment Alberta Stroke Program Early Computed Tomography Score, higher baseline neutrophil ratio may increase the risk of SICH. © 2017 American Heart Association, Inc.

Relationship between human cytomegalovirus transcription and symptomatic apical periodontitis in Iran.

PubMed

Yazdi, K A; Sabeti, M; Jabalameli, F; Eman eini, M; Kolahdouzan, S A; Slots, J

2008-12-01

Apical periodontitis of endodontic origin may develop as a result of cooperative interactions among herpesviruses, specific pathogenic bacteria and tissue-destructive inflammatory mediators. This study sought to identify the presence of Epstein-Barr virus (EBV) and human cytomegalovirus (HCMV) transcripts in symptomatic and asymptomatic periapical lesions of individuals living in Iran. Fifty endodontic patients (28 with symptomatic periapical lesions and 22 with asymptomatic periapical lesions) were included in the study. In each study subject, a microbiological periapical sample was collected using a curette in conjunction with periapical surgery. A reverse transcription-polymerase chain reaction assay was used to identify transcripts of EBV and HCMV. Human cytomegalovirus transcript was detected in 15 of the 28 (53.6%) symptomatic and in six of the 22 (27.3%) asymptomatic periapical study lesions (significant difference between symptomatic and asymptomatic lesions; P = 0.03, chi-square test). Epstein-Barr virus transcript was identified in one symptomatic and in two asymptomatic periapical lesions. This study establishes that HCMV transcription is common in apical periodontitis and is most frequent in symptomatic lesions. The high frequency of active herpesvirus infections in severe apical periodontitis changes the pathogenic paradigm of the disease and may also have preventive and therapeutic implications.

Early and Definitive Diagnosis of Toxic Shock Syndrome by Detection of Marked Expansion of T-Cell-Receptor Vβ2-Positive T Cells

PubMed Central

Kato, Hidehito; Yamada, Ritsuko; Okano, Hiroya; Ohta, Hiroaki; Imanishi, Ken’ichi; Kikuchi, Ken; Totsuka, Kyouichi; Uchiyama, Takehiko

2003-01-01

We describe two cases of early toxic shock syndrome, caused by the superantigen produced from methicillin-resistant Staphylococcus aureus and diagnosed on the basis of an expansion of T-cell-receptor Vβ2-positive T cells. One case-patient showed atypical symptoms. Our results indicate that diagnostic systems incorporating laboratory techniques are essential for rapid, definitive diagnosis of toxic shock syndrome. PMID:12643839

Incidence and Risk Factors of Symptomatic Hiatal Hernia Following Resection for Gastric and Esophageal Cancer.

PubMed

Andreou, Andreas; Pesthy, Sina; Struecker, Benjamin; Dadras, Mehran; Raakow, Jonas; Knitter, Sebastian; Duwe, Gregor; Sauer, Igor M; Beierle, Anika Sophie; Denecke, Christian; Chopra, Sascha; Pratschke, Johann; Biebl, Matthias

2017-12-01

Symptomatic hiatal hernia (HH) following resection for gastric or esophageal cancer is a potentially life-threatening event that may lead to emergent surgery. However, the incidence and risk factors of this complication remain unclear. Data of patients who underwent resection for gastric or esophageal cancer between 2005 and 2012 were assessed and the incidence of symptomatic HH was evaluated. Factors associated with an increased risk for HH were investigated. Resection of gastric or esophageal cancer was performed in 471 patients. The primary tumor was located in the stomach, cardia and esophagus in 36%, 24%, and 40% of patients, respectively. The incidence of symptomatic HH was 2.8% (n=13). All patients underwent surgical hernia repair, 8 patients (61.5%) required emergent procedure, and 3 patients (23%) underwent bowel resection. Morbidity and mortality after HH repair was 38% and 8%, respectively. Factors associated with increased risk for symptomatic HH included Body-Mass-Index (median BMI with HH 27 (23-35) vs. BMI without HH 25 (15-51), p=0.043), diabetes (HH rate: with diabetes, 6.3% vs. without diabetes, 2%, p=0.034), tumor location (HH rate: stomach, 1.2% vs. esophagus, 1.1% vs. cardia, 7.9%, p=0.001), and resection type (HH rate: total/subtotal gastrectomy, 0.7% vs. transthoracic esophagectomy, 2.7% vs. extended gastrectomy, 6.1%, p=0.038). HH is a major adverse event after resection for gastric or esophageal cancer especially among patients undergoing extended gastrectomy for cardia cancer requiring a high rate of repeat surgery. Therefore, intensive follow-up examinations for high-risk patients and early diagnosis of asymptomatic patients are essential for selecting patients for elective surgery to avoid unpredictable emergent events with high morbidity and mortality. Copyright© 2017, International Institute of Anticancer Research (Dr. George J. Delinasios), All rights reserved.

Parental Concerns Regarding a Centre-Based Early Intervention Programme for Down Syndrome in Malaysia: A Case Study

ERIC Educational Resources Information Center

Kunagaratnam, Nagasangari; Loh, Sau Cheong

2010-01-01

This qualitative study provides information on the concerns faced by parents having children with Down syndrome in a centre-based Early Intervention Programme in Malaysia and how they coped with these concerns. Semi-structured interviews were conducted with a total of five parents and two special educators. The interview and observation findings…

Evidence for an agitated-aggressive syndrome in early-onset psychosis correlated with antisocial personality disorder, forensic history, and substance use disorder.

PubMed

Huber, Christian G; Hochstrasser, Lisa; Meister, Klara; Schimmelmann, Benno G; Lambert, Martin

2016-08-01

Agitation, aggression, and violence are increased in psychotic disorders. Additionally, an earlier age at onset may be associated with aggressive behavior. However, the relationship of age at onset, an agitated-aggressive syndrome as measured with the Positive And Negative Syndrome Scale for Schizophrenia - Excited Component (PANSS-EC), and its potential correlates in first-episode psychosis (FEP) has not been studied. This study assessed the association between age at onset, an agitated-aggressive syndrome, and its potential correlates in a prospective sample of 52 FEP patients with early-onset and adult-onset followed up for 12months. Twenty-six patients conformed to the criteria of early-onset psychosis. Early age at onset was associated with antisocial personality disorder (p=0.004; φc=0.39), a history of legal involvement (p=0.005; φc=0.39), and higher rates of lifetime substance use disorder (SUD; p=0.002; φc=0.42). Early-onset patients had significantly higher PANSS-EC scores over the course of observation (F(1,44.4)=5.39; p=0.025; d=0.656), but no significant group differences emerged for the remaining PANSS subscores. PANSS-EC scores were correlated positively with antisocial personality disorder and forensic history at 6weeks, 3months, 6months, and 12months, and with lifetime substance use disorder at 3months and 6months. Patients with early onset psychosis may have increased levels of agitation/aggressiveness, and, more likely, antisocial personality disorder, forensic history, and lifetime substance use disorder. These variables were linked to suicidality, aggressiveness, and involuntary treatment. Copyright © 2016 Elsevier B.V. All rights reserved.

Transient neonatal renal failure and massive polyuria in MEGDEL syndrome.

PubMed

Harbulot, Carole; Paquay, Stéphanie; Dorboz, Imen; Pichard, Samia; Bourillon, Agnès; Benoist, Jean-François; Jardel, Claude; Ogier de Baulny, Hélène; Boespflug-Tanguy, Odile; Schiff, Manuel

2016-06-01

MEGDEL (3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome) syndrome is a mitochondrial disorder associated with recessive mutations in SERAC1. To report transient neonatal renal findings in MEGDEL syndrome. This 7 year-old girl was the first child of consanguineous Turkish parents. She exhibited an acute neonatal deterioration with severe lactic acidosis and liver failure. Initial evaluation revealed massive polyuria and renal failure with 3-methylglutaconic aciduria. Symptoms and biological findings progressively improved with symptomatic treatment but lactic acidosis and high lactate to pyruvate ratio along with 3-methylglutaconic aciduria persisted. At 8 months of age, a subacute neurological degradation occurred with severe hypotonia, dystonia with extrapyramidal movements and failure to thrive. Brain MRI revealed basal ganglia lesions suggestive of Leigh syndrome. At 3 years of age, sensorineural deafness was documented. MEGDEL syndrome was further confirmed by the identification of an already reported homozygous mutation in SERAC1. Transient neonatal polyuria and renal failure have not been reported to date in SERAC1 defective patients. Such neonatal kidney findings expand the clinical spectrum of MEGDEL syndrome.

Sotos syndrome

PubMed Central

Baujat, Geneviève; Cormier-Daire, Valérie

2007-01-01

Sotos syndrome is an overgrowth condition characterized by cardinal features including excessive growth during childhood, macrocephaly, distinctive facial gestalt and various degrees of learning difficulty, and associated with variable minor features. The exact prevalence remains unknown but hundreds of cases have been reported. The diagnosis is usually suspected after birth because of excessive height and occipitofrontal circumference (OFC), advanced bone age, neonatal complications including hypotonia and feeding difficulties, and facial gestalt. Other inconstant clinical abnormalities include scoliosis, cardiac and genitourinary anomalies, seizures and brisk deep tendon reflexes. Variable delays in cognitive and motor development are also observed. The syndrome may also be associated with an increased risk of tumors. Mutations and deletions of the NSD1 gene (located at chromosome 5q35 and coding for a histone methyltransferase implicated in transcriptional regulation) are responsible for more than 75% of cases. FISH analysis, MLPA or multiplex quantitative PCR allow the detection of total/partial NSD1 deletions, and direct sequencing allows detection of NSD1 mutations. The large majority of NSD1 abnormalities occur de novo and there are very few familial cases. Although most cases are sporadic, several reports of autosomal dominant inheritance have been described. Germline mosaicism has never been reported and the recurrence risk for normal parents is very low (<1%). The main differential diagnoses are Weaver syndrome, Beckwith-Wiedeman syndrome, Fragile X syndrome, Simpson-Golabi-Behmel syndrome and 22qter deletion syndrome. Management is multidisciplinary. During the neonatal period, therapies are mostly symptomatic, including phototherapy in case of jaundice, treatment of the feeding difficulties and gastroesophageal reflux, and detection and treatment of hypoglycemia. General pediatric follow-up is important during the first years of life to allow detection

Fat embolism due to bilateral femoral fracture: a case report

PubMed Central

Porpodis, Konstantinos; Karanikas, Michael; Zarogoulidis, Paul; Konoglou, Maria; Domvri, Kalliopi; Mitrakas, Alexandros; Boglou, Panagiotis; Bakali, Stamatia; Iordanidis, Alkis; Zervas, Vasilis; Courcoutsakis, Nikolaos; Katsikogiannis, Nikolaos; Zarogoulidis, Konstantinos

2012-01-01

Fat embolism syndrome is usually associated with surgery for large bone fractures. Symptoms usually occur within 36 hours of hospitalization after traumatic injury. We present a case with fat embolism syndrome due to femur fracture. Prompt supportive treatment of the patient’s respiratory system and additional pharmaceutical treatment provided the positive clinical outcome. There is no specific therapy for fat embolism syndrome; prevention, early diagnosis, and adequate symptomatic treatment are very important. Most of the studies in the last 20 years have shown that the incidence of fat embolism syndrome is reduced by early stabilization of the fractures and the risk is even further decreased with surgical correction rather than conservative management. PMID:22287848

The cost implications of an early versus delayed invasive strategy in Acute Coronary Syndromes: the TIMACS study.

PubMed

Bainey, Kevin R; Gafni, Amiram; Rao-Melacini, Purnima; Tong, Wesley; Steg, Philippe G; Faxon, David P; Lamy, Andre; Granger, Christopher B; Yusuf, Salim; Mehta, Shamir R

2014-06-01

The Timing of Intervention in Acute Coronary Syndromes (TIMACS) trial demonstrated that early invasive intervention (within 24 hours) was similar to a delayed approach (after 36 hours) overall but improved outcomes were seen in patients at high risk. However, the cost implications of an early versus delayed invasive strategy are unknown. A third-party perspective of direct cost was chosen and United States Medicare costs were calculated using average diagnosis related grouping (DRG) units. Direct medical costs included those of the index hospitalization (including clinical, procedural and hospital stay costs) as well as major adverse cardiac events during 6 months of follow-up. Sensitivity and sub-group analyses were performed. The average total cost per patient in the early intervention group was lower compared with the delayed intervention group (-$1170; 95% CI -$2542 to $202). From the bootstrap analysis (5000 replications), the early invasive approach was associated with both lower costs and better clinical outcomes regarding death/myocardial infarction (MI)/stroke in 95.1% of the cases (dominant strategy). In high-risk patients (GRACE score ≥141), the net reduction in cost was greatest (-$3720; 95% CI -$6270 to -$1170). Bootstrap analysis revealed 99.8% of cases were associated with both lower costs and better clinical outcomes (death/MI/stroke). We were unable to evaluate the effect of community care and investigations without hospitalization (office visits, non-invasive testing, etc). Medication costs were not captured. Indirect costs such as loss of productivity and family care were not included. An early invasive management strategy is as effective as a delayed approach and is likely to be less costly in most patients with acute coronary syndromes.

Biochemical abnormalities in Pearson syndrome.

PubMed

Crippa, Beatrice Letizia; Leon, Eyby; Calhoun, Amy; Lowichik, Amy; Pasquali, Marzia; Longo, Nicola

2015-03-01

Pearson marrow-pancreas syndrome is a multisystem mitochondrial disorder characterized by bone marrow failure and pancreatic insufficiency. Children who survive the severe bone marrow dysfunction in childhood develop Kearns-Sayre syndrome later in life. Here we report on four new cases with this condition and define their biochemical abnormalities. Three out of four patients presented with failure to thrive, with most of them having normal development and head size. All patients had evidence of bone marrow involvement that spontaneously improved in three out of four patients. Unique findings in our patients were acute pancreatitis (one out of four), renal Fanconi syndrome (present in all patients, but symptomatic only in one), and an unusual organic aciduria with 3-hydroxyisobutyric aciduria in one patient. Biochemical analysis indicated low levels of plasma citrulline and arginine, despite low-normal ammonia levels. Regression analysis indicated a significant correlation between each intermediate of the urea cycle and the next, except between ornithine and citrulline. This suggested that the reaction catalyzed by ornithine transcarbamylase (that converts ornithine to citrulline) might not be very efficient in patients with Pearson syndrome. In view of low-normal ammonia levels, we hypothesize that ammonia and carbamylphosphate could be diverted from the urea cycle to the synthesis of nucleotides in patients with Pearson syndrome and possibly other mitochondrial disorders. © 2015 Wiley Periodicals, Inc.

Endoscopic minor papilla balloon dilation for the treatment of symptomatic pancreas divisum.

PubMed

Yamamoto, Natsuyo; Isayama, Hiroyuki; Sasahira, Naoki; Tsujino, Takeshi; Nakai, Yousuke; Miyabayashi, Koji; Mizuno, Suguru; Kogure, Hirofumi; Sasaki, Takashi; Hirano, Kenji; Tada, Minoru; Koike, Kazuhiko

2014-08-01

A subpopulation of patients with pancreas divisum experience symptomatic events such as recurrent acute pancreatitis and chronic pancreatitis. Minor papilla sphincterotomy has been reported as being an effective treatment. The aim of this study was to evaluate the safety and efficacy of endoscopic balloon dilation for the minor papilla. Between 2000 and 2012, 16 patients were retrospectively included in this study. After endoscopic balloon dilation for the minor papilla was received, a pancreatic stent or a nasal pancreatic drainage catheter was placed for 1 week. If a stricture or obstruction was evident, it was treated with balloon dilation followed by long-term stent placement (1 year). When an outflow of pancreatic juice was disturbed by a pancreatic stone, endoscopic stone extraction was performed. Balloon dilation and stent placement were achieved and were successful in all the cases (16/16; 100%). Clinical improvement was achieved in 7 (84.7%) of the 9 patients with recurrent acute pancreatitis and in 6 (85.7%) of the 7 patients with chronic pancreatitis. Early complications were observed in 1 (6.3%) patient. Pancreatitis or bleeding related to balloon dilation was not observed. Endoscopic balloon dilation for the minor papilla is feasible for the management of symptomatic pancreas divisum.

Cerebral amyloid angiopathy in Down syndrome and sporadic and autosomal-dominant Alzheimer's disease.

PubMed

Carmona-Iragui, María; Balasa, Mircea; Benejam, Bessy; Alcolea, Daniel; Fernández, Susana; Videla, Laura; Sala, Isabel; Sánchez-Saudinós, María Belén; Morenas-Rodriguez, Estrella; Ribosa-Nogué, Roser; Illán-Gala, Ignacio; Gonzalez-Ortiz, Sofía; Clarimón, Jordi; Schmitt, Frederick; Powell, David K; Bosch, Beatriz; Lladó, Albert; Rafii, Michael S; Head, Elizabeth; Molinuevo, José Luis; Blesa, Rafael; Videla, Sebastián; Lleó, Alberto; Sánchez-Valle, Raquel; Fortea, Juan

2017-11-01

We aimed to investigate if cerebral amyloid angiopathy (CAA) is more frequent in genetically determined than in sporadic early-onset forms of Alzheimer's disease (AD) (early-onset AD [EOAD]). Neuroimaging features of CAA, apolipoprotein (APOE), and cerebrospinal fluid amyloid β (Aβ) 40 levels were studied in subjects with Down syndrome (DS, n = 117), autosomal-dominant AD (ADAD, n = 29), sporadic EOAD (n = 42), and healthy controls (n = 68). CAA was present in 31%, 38%, and 12% of cognitively impaired DS, symptomatic ADAD, and sporadic EOAD subjects and in 13% and 4% of cognitively unimpaired DS individuals and healthy controls, respectively. APOE ε4 genotype was borderline significantly associated with CAA in sporadic EOAD (P = .06) but not with DS or ADAD. There were no differences in Aβ040 levels between groups or between subjects with and without CAA. CAA is more frequently found in genetically determined AD than in sporadic EOAD. Cerebrospinal fluid Aβ40 levels are not a useful biomarker for CAA in AD. Copyright © 2017 the Alzheimer's Association. Published by Elsevier Inc. All rights reserved.

Seroprevalence of dengue IgG antibodies in symptomatic and asymptomatic individuals three years after an outbreak in Zhejiang Province, China.

PubMed

Luo, Shuying; Cui, Weihong; Li, Chan; Ling, Feng; Fu, Tao; Liu, Qiyong; Ren, Jiangping; Sun, Jimin

2018-02-23

Cross-reacting antibodies enhanced dengue infection in humans and antibody dependent enhancement (ADE) have been proposed as early mechanisms underlying DHF/DSS. However, the duration of dengue IgG antibodies in the body as well as factors associated with said duration remain unclear. Blood samples from 59 dengue symptomatic persons and 48 asymptomatic individuals were collected. Study participant demographic information (including age in 2009, gender, and place of residence) were also collected. Serum samples were tested for dengue specific IgG by Panbio dengue IgG indirect enzyme-linked immunosorbent assay (ELISA). Chi-square tests and logistic regression analysis of dengue IgG antibodies seroprevalence divided by gender, age groups, and symptomatic or asymptomatic infection were conducted using the Statistical Package for the Social Sciences. Overall, 70 (65.42%) blood samples were seropositive for dengue IgG antibodies with similar seroprevalences found when dividing by gender and different age groups. However, seroprevalence of dengue IgG antibodies in samples from dengue symptomatic persons was significantly higher than that in samples from asymptomatic individuals (96.61% vs 27.08%) according to multivariable logistic regression analysis, the odds ratio (OR) of the factor was 76.731. Dengue IgG antibodies were detectable in samples from most individuals three years after infection. Dengue symptomatic persons had a higher dengue IgG prevalence compared to asymptomatic individuals.

Serologic follow-up of Middle East Respiratory Syndrome Coronavirus Cases and Contacts - Abu Dhabi, United Arab Emirates.

PubMed

Al Hosani, Farida Ismail; Kim, Lindsay; Khudhair, Ahmed; Pham, Huong; Al Mulla, Mariam; Al Bandar, Zyad; Pradeep, Krishna; Elkheir, Kheir Abou; Weber, Stefan; Khoury, Mary; Donnelly, George; Younis, Naima; El Saleh, Feda; Abdalla, Muna; Imambaccus, Hala; Haynes, Lia M; Thornburg, Natalie J; Harcourt, Jennifer L; Miao, Congrong; Tamin, Azaibi; Hall, Aron J; Russell, Elizabeth S; Harris, Aaron M; Kiebler, Craig; Mir, Roger A; Pringle, Kimberly; Alami, Negar N; Abedi, Glen R; Gerber, Susan I

2018-06-13

Although there is evidence of person-to-person transmission of Middle East Respiratory Syndrome Coronavirus (MERS-CoV) in household and healthcare settings, more data are needed to describe and better understand the risk factors and transmission routes in both settings, as well as the extent that disease severity affects transmission. A sero-epidemiological investigation was conducted among Middle East Respiratory Syndrome Coronavirus (MERS-CoV) case-patients and their household contacts to investigate transmission risk in Abu Dhabi, United Arab Emirates. Cases diagnosed between January 1, 2013-May 9, 2014 and their household contacts were approached for enrollment. Demographic, clinical, and exposure history data were collected. Sera were screened by MERS-CoV nucleocapsid protein (N) ELISA and indirect immunofluorescence, with results confirmed by microneutralization assay. Ninety-one percent (n=31/34) of case-patients were asymptomatic or mildly symptomatic and did not require oxygen during hospitalization. MERS-CoV antibodies were detected in 13 of 24 (54%) cases with available sera, including 3 asymptomatic, 9 mildly symptomatic, and 1 severely symptomatic case-patient. No serologic evidence of MERS-CoV transmission was found among 105 household contacts with available sera. Transmission of MERS-CoV was not documented in this investigation of mostly asymptomatic and mildly symptomatic cases and their household contacts. These results have implications for clinical management of cases and formulation of isolation policies to reduce the risk of transmission.

Autism Treatment in the First Year of Life: A Pilot Study of Infant Start, a Parent-Implemented Intervention for Symptomatic Infants

ERIC Educational Resources Information Center

Rogers, S. J.; Vismara, L.; Wagner, A. L.; McCormick, C.; Young, G.; Ozonoff, S.

2014-01-01

The goal of early autism screening is earlier treatment. We pilot-tested a 12-week, low-intensity treatment with seven symptomatic infants ages 7-15 months. Parents mastered the intervention and maintained skills after treatment ended. Four comparison groups were matched from a study of infant siblings. The treated group of infants was…

Late effects of early growth hormone treatment in Down syndrome.

PubMed

Myrelid, Å; Bergman, S; Elfvik Strömberg, M; Jonsson, B; Nyberg, F; Gustafsson, J; Annerén, G

2010-05-01

Down syndrome (DS) is associated with short stature and psychomotor delay. We have previously shown that growth hormone (GH) treatment during infancy and childhood normalizes growth velocity and improves fine motor skill performance in DS. The aim of this study was to investigate late effects of early GH treatment on growth and psychomotor development in the DS subjects from the previous trial. Twelve of 15 adolescents with DS (3 F) from the GH group and 10 of 15 controls (5 F) participated in this follow-up study. Fifteen other subjects with DS (6 F) were included as controls in anthropometric analyses. Cognitive function was assessed with the Leiter International Performance Scale-Revised (Leiter-R) and selected subtests of the Wechsler Intelligence Scale for Children, Third edition (WISC-III). The Bruininks-Oseretsky Test of Motor Proficiency, Second edition (BOT-2), was used to assess general motor ability. Although early GH treatment had no effect on final height, the treated subjects had a greater head circumference standard deviation score (SDS) than the controls (-1.6 SDS vs. -2.2 SDS). The adolescents previously treated with GH had scores above those of the controls in all subtests of Leiter-R and WISC-III, but no difference in Brief IQ-score was seen between the groups. The age-adjusted motor performance of all subjects was below -2 SD, but the GH-treated subjects performed better than the controls in all but one subtest. The combined finding of a greater head circumference SDS and better psychomotor performance indicates that DS subjects may benefit from early GH treatment.

Selective Attention Deficits Associated with Mild Cognitive Impairment and Early Stage Alzheimer's Disease in Adults with Down Syndrome

ERIC Educational Resources Information Center

Krinsky-McHale, Sharon J.; Devenny, Darlynne A.; Kittler, Phyllis; Silverman, Wayne

2008-01-01

Adults with Down syndrome and early stage Alzheimer's disease showed decline in their ability to selectively attend to stimuli in a multitrial cancellation task. They also showed variability in their performance over the test trials, whereas healthy participants showed stability. These changes in performance were observed approximately 2 years…

[Exudative enteropathy in congenital lymphedema-lymphangiectasia syndrome].

PubMed

Heruth, M; Müller, P; Liebscher, L; Kurze, G; Richter, T

2006-01-01

Congenital peripheral elephantiasiformic alterations are very rare in paediatric patients. In a patient with lymphangiectasia-lymphedema syndrome we demonstrate over a 8-year follow-up that not only cosmetic and social indications for surgical treatments but also internal care become important during the course. We report on a boy with congenital lymphedemas of the extremities and the genital region, which were several times surgically treated. The patient became symptomatic firstly with tetanic cramps caused by malabsorption syndrome due to intestinal lymphangiectasia at the age of 6 years. Synopsis of clinical and laboratory findings and the patient's course are pointing to a mild Hennekam syndrome with still unknown aetiology. The boy developed adequately with permanent oral substitution of electrolytes and vitamins, protein-rich diet, supplementation of medium-chain fatty acids and compressing bandages. Infusions of human albumin to correct persistent hypalbuminemia as well as cytostatic treatment with cyclophosphamide as a formal trial were ineffective and are not advisable, therefore.

Phrenic Nerve Conduction Study in the Early Stage of Guillain–Barre Syndrome as a Predictor of Respiratory Failure

PubMed Central

Sen, Barun Kumar; Pandit, Alak

2018-01-01

Background: Guillain-Barré syndrome (GBS) has unpredictable clinical course with severe complication of respiratory failure. Objective: To identify clinical profiles and electrophysiological study particularly non-invasive Phrenic nerve conduction study in patients of early GBS to predict respiratory failure. Methods: 64 adult (age≥18yrs) patients of early GBS (onset ≤ 14 days) during the study period from January 2014 to October 2015 were evaluated by clinical profiles of age, gender, antecedent infection, time to peak disability, single breath counts, cranial nerve involvement, autonomic dysfunction and non-invasive Phrenic nerve conduction study. Patients with predisposition factors of polyneuropathy like diabetes mellitus, hypothyroidism, vitamin deficiency, renal failure were excluded. Results: Among 64 patients abnormal phrenic nerve conduction study was seen in 65.62% cases (42/64) and 45.23% (19/42) of them developed respiratory failure. Phrenic nerve sum latency, amplitude, duration and area were abnormal in those who developed respiratory failure and they had sum of phrenic nerve latency >28 msec, sum of CMAP amplitude <300 μV, sum of CMAP duration >50 msec and sum of area < 4 mVmS. None with normal phrenic nerve study developed respiratory failure. It was found that age, gender, preceding infection, autonomic involvement and types of GB syndrome had no influence on development of respiratory failure (p>0.05). Rapid disease progression to peak disability, more severe disease, shorter single breath counts and cranial nerve involvement were seen more often in patients with respiratory failure. Conclusion: Abnormal Phrenic nerve conduction study in the early Guillain-Barré syndrome might be of great value independently in predicting impending respiratory failure. PMID:29720799

Radiographic predictors of symptomatic screw removal after retrograde femoral nail insertion.

PubMed

Hamaker, Max; O'Hara, Nathan N; Eglseder, W Andrew; Sciadini, Marcus F; Nascone, Jason W; O'Toole, Robert V

2017-03-01

Removal of symptomatic implants is a common procedure performed by orthopaedic trauma surgeons. No guidance is available regarding which factors contribute to the likelihood of an implant becoming symptomatic. Our objective was to determine whether radiographic parameters associated with distal interlocks in retrograde femoral nails are associated with the rate of symptomatic screw removal. We conducted a retrospective review at a Level I trauma center. Study patients (n=442) had femoral fractures treated with retrograde intramedullary nails from 2007 to 2014 and at least 1year of follow-up. The main outcome measurement was symptomatic distal screw removal as predicted by radiographic parameters. Symptomatic screw removal occurred in 12% of the patients. Increased distance between the most distal screw and the articular surface of the femur significantly reduced likelihood of symptomatic screw removal. A cutoff of 40mm from the articular block was predictive of removal (≥40mm, 0% removal; <40mm, 18% removal, p<0.0001). In patients with distal screws placed within 40mm of the articular surface of the femur, a ratio of screw length to distance between medial and lateral femoral cortices that was ≥1 was a strong predictor of symptomatic screw removal (area under Receiver Operating Characteristic curve, 0.75; p<0.0001). More distal screws and screws that radiographically extend to or beyond the medial cortex are more likely to cause pain and require removal in femoral fractures treated with retrograde intramedullary nails. We identified a specific distance from the joint (<40mm) and a ratio of screw length to bone width (≥1) that significantly increased the likelihood of symptomatic screw removal. Clinicians can use these data to inform patients of the likely risk of implant removal and perhaps to better guide placement and length of screws when the clinical scenario allows some flexibility in location and length of screws. Copyright © 2017 Elsevier Ltd. All

Kounis syndrome: A concise review with focus on management.

PubMed

Fassio, Filippo; Losappio, Laura; Antolin-Amerigo, Dario; Peveri, Silvia; Pala, Gianni; Preziosi, Donatella; Massaro, Ilaria; Giuliani, Gabriele; Gasperini, Chiara; Caminati, Marco; Heffler, Enrico

2016-05-01

Kounis syndrome is defined as the co-incidental occurrence of an acute coronary syndrome with hypersensitivity reactions following an allergenic event and was first described by Kounis and Zavras in 1991 as an allergic angina syndrome. Multiple causes have been described and most of the data in the literature are derived from the description of clinical cases - mostly in adult patients - and the pathophysiology remains only partly explained. Three different variants of Kounis syndrome have been defined: type I (without coronary disease) is defined as chest pain during an acute allergic reaction in patients without risk factors or coronary lesions in which the allergic event induces coronary spasm that electrocardiographic changes secondary to ischemia; type II (with coronary disease) includes patients with pre-existing atheromatous disease, either previously quiescent or symptomatic, in whom acute hypersensitive reactions cause plaque erosion or rupture, culminating in acute myocardial infarction; more recently a type-III variant of Kounis syndrome has been defined in patients with preexisting coronary disease and drug eluting coronary stent thrombosis. The pathogenesis of the syndrome is discussed, and a therapeutic algorithm is proposed. Copyright © 2015 European Federation of Internal Medicine. Published by Elsevier B.V. All rights reserved.

Acute health effects of PM10 pollution on symptomatic and asymptomatic children

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

Pope, C.A. 3d.; Dockery, D.W.

1992-05-01

This study assessed the association between daily changes in respiratory health and respirable particulate pollution (PM10) in Utah Valley during the winter of 1990-1991. During the study period, 24-h PM10 concentrations ranged from 7 to 251 micrograms/m3. Participants included symptomatic and asymptomatic samples of fifth- and sixth-grade students. Relatively small but statistically significant (p less than 0.01) negative associations between peak expiratory flow (PEF) and PM10 were observed for both the symptomatic and asymptomatic samples. The association was strongest for the symptomatic children. Large associations between the incidence of respiratory symptoms, especially cough, and PM10 pollution were also observed formore » both samples. Again the association was strongest for the symptomatic sample. Immediate and delayed PM10 effects were observed. Respiratory symptoms and PEF changes were more closely associated with 5-day moving-average PM10 levels than with concurrent-day levels. These associations were also observed at PM10 levels below the 24-h standard of 150 micrograms/m3. This study indicates that both symptomatic and asymptomatic children may suffer acute health effects of respirable particulate pollution, with symptomatic children suffering the most.« less

Unravelling the NERDS syndrome.

PubMed

Singh, Achintya Dinesh; Suri, Tejas Menon; Jagdish, Rakesh Kumar; Kumar, Uma

2018-05-12

A 22-year-old man presented with symmetric polyarthritis, pruritus and deviation of angle of mouth to the right side since the last 7 years. His symptoms were persistent despite receiving ayurvedic medications and symptomatic therapy. Examination revealed dry skin, cutaneous nodules, xanthelasma, periarticular non-tender swellings, pitting oedema of hands and feet and lower motor neuron type right facial palsy. Haematological investigations revealed eosinophilia and skin biopsy had cutaneous eosinophilic infiltration. The constellation of above findings comprises the nodules, eosinophilia, rheumatism, dermatitis and swelling syndrome. It a rare syndrome with few reported cases in literature. The patient was started on oral corticosteroids which was subsequently tapered and methotrexate therapy. His polyarthritis and skin rashes resolved with therapy. He has been followed-up for 2 years and is presently asymptomatic for the last 1 year. © BMJ Publishing Group Ltd (unless otherwise stated in the text of the article) 2018. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

Attention in Williams Syndrome and Down's Syndrome: Performance on the New Early Childhood Attention Battery

ERIC Educational Resources Information Center

Breckenridge, Kate; Braddick, Oliver; Anker, Shirley; Woodhouse, Margaret; Atkinson, Janette

2013-01-01

Attentional problems are commonly reported as a feature of the behavioural profile in both Williams syndrome (WS) and Down's syndrome (DS). Recent studies have begun to investigate these impairments empirically, acknowledging the need for an approach that considers cross-syndrome comparisons and developmental changes across the different component…

Adapting the Mullen Scales of Early Learning for a Standardized Measure of Development in Children with Rett Syndrome

ERIC Educational Resources Information Center

Clarkson, Tessa; LeBlanc, Jocelyn; DeGregorio, Geneva; Vogel-Farley, Vanessa; Barnes, Katherine; Kaufmann, Walter E.; Nelson, Charles A.

2017-01-01

Rett Syndrome (RTT) is characterized by severe impairment in fine motor (FM) and expressive language (EL) function, making accurate evaluations of development difficult with standardized assessments. In this study, the administration and scoring of the Mullen Scales of Early Learning (MSEL) were adapted to eliminate the confounding effects of FM…

Similar developmental trajectories in autism and Asperger syndrome: from early childhood to adolescence.

PubMed

Szatmari, Peter; Bryson, Susan; Duku, Eric; Vaccarella, Liezanne; Zwaigenbaum, Lonnie; Bennett, Teresa; Boyle, Michael H

2009-12-01

The objective of this study was to chart the developmental trajectories of high-functioning children with autism spectrum disorders (ASD) from early childhood to adolescence using the presence and absence of structural language impairment (StrLI) as a way of differentiating autism from Asperger syndrome (AS). Sixty-four high-functioning children with ASD were ascertained at 4-6 years of age from several different regional diagnostic and treatment centers. At 6-8 years of age, the ADI-R and the Test of Oral Language Development were used to define an autism group (those with StrLI at 6-8 years of age) and an AS group (those without StrLI). Growth curve analysis was then used to chart the developmental trajectories of these children on measures of autistic symptoms, and adaptive skills in communication, daily living and socialization. Differentiating the ASD group in terms of the presence/absence of StrLI provided a better explanation of the variation in growth curves than not differentiating high-functioning ASD children. The two groups had similar developmental trajectories but the group without StrLI (the AS group) was functioning better and had fewer autistic symptoms than the group with StrLI (the autism group) on all measures across time. The differences in outcome could not be explained by non-verbal IQ or change in early language skills. Distinguishing between autism and Asperger syndrome based on the presence or absence of StrLI appears to be a clinically useful way of classifying ASD sub-types.

Gorlin-goltz syndrome.

PubMed

Pandeshwar, Padma; Jayanthi, K; Mahesh, D

2012-01-01

The Gorlin-Goltz syndrome (GGS) (the nevoid basal cell carcinoma syndrome-NBCCS) is a rare autosomal dominant syndrome caused due to mutations in the PTCH (patched) gene found on chromosome arm 9q. The syndrome, characterized by increased predisposition to develop basal cell carcinoma and associated multiorgan anomalies, has a high level of penetrance and variable expressiveness. GGS is a multidisciplinary problem, early diagnosis of which allows introduction of secondary prophylaxis and following an appropriate treatment to delay the progress of the syndrome. The following report emphasizes the need for awareness of the diagnostic criteria of this syndrome in cases with no typical skin lesions.

Trunk, pelvis and hip biomechanics in individuals with femoroacetabular impingement syndrome: Strategies for step ascent.

PubMed

Diamond, Laura E; Bennell, Kim L; Wrigley, Tim V; Hinman, Rana S; Hall, Michelle; O'Donnell, John; Hodges, Paul W

2018-03-01

Femoroacetabular impingment (FAI) syndrome is common among young active adults and a proposed risk factor for the future development of hip osteoarthritis. Pain is dominant and drives clinical decision-making. Evidence for altered hip joint function in this patient population is inconsistent, making the identification of treatment targets challenging. A broader assessment, considering adjacent body segments (i.e. pelvis, trunk) and individual movement strategies, may better inform treatment programs. This exploratory study aimed to compare trunk, pelvis, and hip biomechanics during step ascent between individuals with and without FAI syndrome. Fifteen participants diagnosed with symptomatic cam-type or combined (cam plus pincer) FAI who were scheduled for arthroscopic surgery, and 11 age-, and sex-comparable pain- and disease-free individuals, underwent three-dimensional motion analysis during a step ascent task. Trunk, pelvis and hip biomechanics were compared between groups. Participants with FAI syndrome exhibited altered ipsilateral trunk lean and pelvic rise towards the symptomatic side during single-leg support compared to controls. Alterations were not uniformly adopted across all individuals with FAI syndrome; those who exhibited more pronounced alterations to frontal plane pelvis control tended to report pain during the task. There were minimal between-group differences for hip biomechanics. Exploratory data suggest biomechanics at the trunk and pelvis during step ascent differ between individuals with and without FAI syndrome. Those with FAI syndrome implement a range of proximal strategies for task completion, some of which may have relevance for rehabilitation. Longitudinal investigations of larger cohorts are required to evaluate hypothesized clinical and structural consequences. Copyright © 2018 Elsevier B.V. All rights reserved.

Radiological features of familial Gorlin-Goltz syndrome.

PubMed

Hegde, Shruthi; Shetty, Shishir Ram

2012-03-01

Gorlin-Goltz syndrome is an autosomal dominant disorder principally characterized by cutaneous basal cell carcinomas, multiple keratocystic odontogenic tumors, and skeletal anomalies. This syndrome may be diagnosed early by dentist because keratocystic odontogenic tumors are usually one of the first manifestations of the syndrome. Early diagnosis and treatment are of utmost importance in reducing the severity of long term sequelae of this syndrome. This report presents a rare event of Gorlin-Goltz syndrome occurring in a 39-year-old male and his 8-year-old daughter. The clinical and investigative features of this familial disorder has been described in detail.

Radiological features of familial Gorlin-Goltz syndrome

PubMed Central

Shetty, Shishir Ram

2012-01-01

Gorlin-Goltz syndrome is an autosomal dominant disorder principally characterized by cutaneous basal cell carcinomas, multiple keratocystic odontogenic tumors, and skeletal anomalies. This syndrome may be diagnosed early by dentist because keratocystic odontogenic tumors are usually one of the first manifestations of the syndrome. Early diagnosis and treatment are of utmost importance in reducing the severity of long term sequelae of this syndrome. This report presents a rare event of Gorlin-Goltz syndrome occurring in a 39-year-old male and his 8-year-old daughter. The clinical and investigative features of this familial disorder has been described in detail. PMID:22474649

Surgery to Treat Symptomatic Mobile Cecum Syndrome Is Safe and Associated with Good Recovery Outcomes.

PubMed

Cesaretti, Manuela; Trotta, Manuela; Leale, Irene; Minetti, Giuseppe Antonio; Cittadini, Giuseppe; Montecucco, Fabrizio; Camerini, Giovanni Bruno; Borgonovo, Giacomo

2018-01-01

The mobile cecum syndrome includes a spectrum of conditions. The cecal volvulus represents the acute form, with typical feature of a bowel obstruction that needs immediate operative treatment. On the other hand, a chronic form of mobile cecum syndrome which is the most common form reported a history of intermittent crampy abdominal pain, distension, and constipation. In this study, five patients came to our attention during the last ten years, presenting different symptoms due to a mobile cecum. All patients were investigated by several diagnostic techniques according to the specific clinical setting. All patients were found to have the cecum and ascending colon unattached to the posterior peritoneum. Surgery was the treatment of choice. In our experience, the best diagnostic technique was computed tomography scan, especially if performed in the Trendelenburg position. We also propose virtual colonoscopy as a good option for diagnosis (in patients with chronic syndrome) and follow-up after surgery. In conclusion, laparoscopic approach guaranteed a good result, with no symptoms of recurrence, in both acute and elective treatments. The diagnosis of mobile cecum needs a high index of suspicion and a targeted radiological investigation. Surgery, especially laparoscopic cecopexy and appendectomy, is the recommended treatment.

Management of Symptomatic Floaters: Current Attitudes, Beliefs, and Practices Among Vitreoretinal Surgeons.

PubMed

Cohen, Michael N; Rahimy, Ehsan; Ho, Allen C; Garg, Sunir J

2015-09-01

To assess the current attitudes, beliefs, and practice patterns among vitreoretinal surgeons when dealing with symptomatic floaters in patients with otherwise healthy eyes. A cross-sectional, Internet-based anonymous survey of 10 questions was distributed via email to vitreoretinal specialists practicing in the United States. The survey response rate was 6.1% (159 of 2,600). Forty of 159 respondents (25%) reported they would perform pars plana vitrectomy (PPV) to reduce symptomatic floaters, and 110 of 159 (69%) had previously performed PPV for this indication. When compared to those unlikely to intervene for symptomatic floaters, 33 of 40 (83%) of those likely to intervene performed more than 100 vitrectomy surgical cases annually (P<.05). Between those that had and had not performed PPV for symptomatic floaters in the past, statistically significant differences were observed regarding the likelihood to perform PPV for symptomatic floaters in the future (35% vs. 4%; P<.0001) and tendency to elect a procedure if the surgeon's own vision were impacted by symptomatic floaters (55% vs. 8%; P<.001). When compared to those likely to perform surgery for symptomatic floaters, those unlikely to intervene identified three statistically significant barriers: the surgical risks involved with PPV (28% vs. 86%; P<.001), unrealistic patient expectations (25% vs 58%; P<.001), and the possibility of ridicule from the local retina community (10% vs. 32%; P<.01). Vitreoretinal specialists are more likely to intervene for symptomatic floaters if they have previously done so and if they perform more than 100 surgical cases per year. The major barriers preventing physicians from performing an intervention for floaters are standard risks associated with PPV, the fear of unreasonable patient expectations, and the possibility of ridicule within the local retina community. Copyright 2015, SLACK Incorporated.

Symptomatic remission in psychosis and real-life functioning.

PubMed

Oorschot, M; Lataster, T; Thewissen, V; Lardinois, M; van Os, J; Delespaul, P A E G; Myin-Germeys, I

2012-09-01

In 2005 Andreasen proposed criteria for remission in schizophrenia. It is unclear whether these criteria reflect symptom reduction and improved social functioning in daily life. To investigate whether criteria for symptomatic remission reflect symptom reduction and improved functioning in real life, comparing patients meeting remission criteria, patients not meeting these criteria and healthy controls. The Experience Sampling Method (ESM), a structured diary technique, was used to explore real-life symptoms and functioning in 177 patients with (remitted and non-remitted) schizophrenia spectrum disorders and 148 controls. Of 177 patients, 70 met criteria for symptomatic remission. These patients reported significantly fewer positive and negative symptoms and better mood states compared with patients not in remission. Furthermore, patients in remission spent more time in goal-directed activities and had less preference for being alone when they were with others. However, the patient groups did not differ on time spent in social company and doing nothing, and both the remission and non-remission groups had lower scores on functional outcome measures compared with the control group. The study provides an ecological validation for the symptomatic remission criteria, showing that patients who met the criteria reported fewer positive symptoms, better mood states and partial recovery of reward experience compared with those not in remission. However, remission status was not related to functional recovery, suggesting that the current focus on symptomatic remission may reflect an overly restricted goal.

Posterior tibial vein aneurysm presenting as tarsal tunnel syndrome.

PubMed

Ayad, Micheal; Whisenhunt, Anumeha; Hong, EnYaw; Heller, Josh; Salvatore, Dawn; Abai, Babak; DiMuzio, Paul J

2015-06-01

Tarsal tunnel syndrome is a compressive neuropathy of the posterior tibial nerve within the tarsal tunnel. Its etiology varies, including space occupying lesions, trauma, inflammation, anatomic deformity, iatrogenic injury, and idiopathic and systemic causes. Herein, we describe a 46-year-old man who presented with left foot pain. Work up revealed a venous aneurysm impinging on the posterior tibial nerve. Following resection of the aneurysm and lysis of the nerve, his symptoms were alleviated. Review of the literature reveals an association between venous disease and tarsal tunnel syndrome; however, this report represents the first case of venous aneurysm causing symptomatic compression of the nerve. © The Author(s) 2014 Reprints and permissions: sagepub.co.uk/journalsPermissions.nav.

Symptomatic treatment in the fragile X-associated tremor/ataxia syndrome.

PubMed

Hall, Deborah A; Berry-Kravis, Elizabeth; Hagerman, Randi J; Hagerman, Paul J; Rice, Cathlin D; Leehey, Maureen A

2006-10-01

There is no established treatment for the neurological features of the recently discovered fragile X-associated tremor/ataxia syndrome (FXTAS). Fifty-six patients with FXTAS completed a questionnaire to determine whether any medications had been effective for neurological symptoms. Of 11 subjects with definite FXTAS, 8 (70%) were on medications for their neurological symptoms, whereas most subjects with possible or probable FXTAS, 31 (70%) of 45 subjects, were not on medications. Although no therapy was uniformly effective for intention tremor, ataxia, Parkinsonism, memory loss, or anxiety, some subjects with intention tremor or Parkinsonism reported improvement with medications frequently used in other movement disorders. Overall, all 22 subjects on medications reported improvement in one or more symptoms. Lack of insight, recall bias, and cognitive impairment may have resulted in an underestimation of the beneficial effect of medical therapy. This study suggests that patients with FXTAS can derive improvement from medication treatment for some of their symptoms.

Hantavirus pulmonary syndrome.

PubMed

Simpson, Steven Q; Spikes, Leslie; Patel, Saurin; Faruqi, Ibrahim

2010-03-01

Hantavirus pulmonary syndrome, also known as hantavirus cardiopulmonary syndrome, is a recently described infectious syndrome found throughout the Americas. Although infection is sporadic and uncommon compared with other atypical pneumonia syndromes, its high mortality rate warrants the maintenance of a high index of suspicion in rural settings. Because no specific therapies are available for the disease, prevention and early recognition play an important role in reducing mortality from the disease. This article reviews the nature of the viruses that cause hantavirus pulmonary syndrome, the epidemiology and ecology of disease transmission, and disease recognition, treatment, and prevention. Copyright 2010 Elsevier Inc. All rights reserved.

Symptomatic retention of the Agile® patency capsule.

PubMed

Egea Valenzuela, Juan; Estrella Díez, Esther; Alberca de Las Parras, Fernando

2017-06-01

The Agile® capsule has shown to be useful when evaluating the patency of the small bowel in patients prior to capsule endoscopy studies. It is a safe tool and a low rate of complications have been reported, highlighting symptomatic retention, although references in literature are scarce and it is only observed in 1.2% of the procedures. We present the case of a symptomatic retention of this device in a patient with previously known colonic Crohn's disease in who a small bowel study was indicated and was sent for prior patency test.

A Chinese patient with pusher syndrome and unilateral spatial neglect syndrome.

PubMed

Chen, Xiao-Wei; Lin, Cheng-He; Zheng, Hua; Lin, Zhen-Lan

2014-07-01

To observe clinical manifestations, behavioral characteristics, and effects of rehabilitation on a patient with pusher syndrome and unilateral spatial neglect caused by right thalamic hemorrhage. Assessment of pusher syndrome was made by the Scale for Contraversive pushing (SCP), and unilateral spatial neglect syndrome was diagnosed using line cancellation, letter and star cancellation, line bisection tests and copy and continuation of graphic sequence test. Behavioral therapy, occupational therapy, reading training and traditional Chinese medicine methods were adopted for treatment of pusher syndrome and unilateral spatial neglect. The patient showed typical pusher syndrome and unilateral spatial neglect symptoms. The pusher syndrome and unilateral spatial neglect symptoms were significantly improved following rehabilitation treatments. Pusher syndrome and unilateral spatial neglect syndrome occurred simultaneously after right thalamic hemorrhage. Early rehabilitation therapy can reduce the symptoms of pusher syndrome and unilateral spatial neglect syndrome and improve motor function.

An interesting case of straight back syndrome and review of the literature.

PubMed

Soleti, Pavan; Wilson, Bivin; Vijayakumar, Arani Rajabathar; Chakravarthi, Paulraj Ignatius Sudhakar; Reddy, Chilakala Gopinath

2016-01-01

Straight back syndrome is characterized by loss of the normal upper thoracic kyphosis, leading to a reduced anteroposterior diameter and squashing of the heart. Most patients are asymptomatic; if symptomatic, chest pain and palpitations are most common. On examination, the abnormal clinical findings simulate organic heart disease that needs to be ruled out by echocardiography and cardiac catheterization. A lateral chest radiograph is diagnostic. This condition is commonly associated with mitral valve prolapse and bicuspid aortic valve. We describe an interesting case of straight back syndrome with all the classic and rarely reported clinical findings. © The Author(s) 2014.

Dysmobility syndrome: current perspectives.

PubMed

Hill, Keith D; Farrier, Kaela; Russell, Melissa; Burton, Elissa

2017-01-01

A new term, dysmobility syndrome, has recently been described as a new approach to identify older people at risk of poor health outcomes. The aim was to undertake a systematic review of the existing research literature on dysmobility syndrome. All articles reporting dysmobility syndrome were identified in a systematic review of Medline (Proquest), CINAHL, PubMed, PsycInfo, EMBASE, and Scopus databases. Key characteristics of identified studies were extracted and summarized. The systematic review identified five papers (three cross-sectional, one case control, and one longitudinal study). No intervention studies were identified. Prevalence of dysmobility syndrome varied between studies (22%-34% in three of the studies). Dysmobility syndrome was shown to be associated with reduced function, increased falls and fractures, and a longitudinal study showed its significant association with mortality. Early research on dysmobility syndrome indicates that it may be a useful classification approach to identify older people at risk of adverse health outcomes and to target for early interventions. Future research needs to standardize the optimal mix of measures and cut points, and investigate whether balance performance may be a more useful factor than history of falls for dysmobility syndrome.

[Facial palsy].

PubMed

Cavoy, R

2013-09-01

Facial palsy is a daily challenge for the clinicians. Determining whether facial nerve palsy is peripheral or central is a key step in the diagnosis. Central nervous lesions can give facial palsy which may be easily differentiated from peripheral palsy. The next question is the peripheral facial paralysis idiopathic or symptomatic. A good knowledge of anatomy of facial nerve is helpful. A structure approach is given to identify additional features that distinguish symptomatic facial palsy from idiopathic one. The main cause of peripheral facial palsies is idiopathic one, or Bell's palsy, which remains a diagnosis of exclusion. The most common cause of symptomatic peripheral facial palsy is Ramsay-Hunt syndrome. Early identification of symptomatic facial palsy is important because of often worst outcome and different management. The prognosis of Bell's palsy is on the whole favorable and is improved with a prompt tapering course of prednisone. In Ramsay-Hunt syndrome, an antiviral therapy is added along with prednisone. We also discussed of current treatment recommendations. We will review short and long term complications of peripheral facial palsy.

Can early physical therapy positively affect the onset of independent walking in infants with Down syndrome? A retrospective cohort study.

PubMed

Corrado, Bruno; Sommella, Nadia; Ciardi, Gianluca; Raiano, Enza; Scala, Iris; Strisciuglio, Pietro; Servodio Iammarrone, Clemente

2018-02-19

The development of both gross and fine motor skills in a child with Down syndrome is generally delayed. The most seriously affected stage is the achievement of independent walking ability, which influences the onset of all following motor and cognityive skills. The study objectives were (a) to assess the time taken to achieve independent walking ability in a cohort of children with Down syndrome, (b) to examine differences in walking onset by patient characteristics, (c) to verify the effect of early physical therapy (Neurodevelopmental Treatment on the basis of Bobath Concept practised within the first months of life) in the achievement of that skill. A retrospective study was carried out on a cohort of 86 children with Down Syndrome. The knowledge of the exact age of walking onset and information about comorobities and rehabilitation practised since birth were the eligibility criteria. The average age at which walking began in the sample was 26 months (Standard Deviation = 9.66). Some patient characteristics proved to be related negatively to the walking onset: gender male, trisomy 21, improved joint ligamentous laxity. When practised, early physical therapy was able to contrast the delay in walking. NDT-Bobath is a well-known and valid instrument for a child with Down syndrome to attain his highest possible psychomotor functioning level. This study pointed out for the first time ever its capability to contrast the delay on walking onset, which can influences positively the development of the following motor and cognitive skills.

"Frog, Where Are You?" Narratives in Children with Specific Language Impairment, Early Focal Brain Injury, and Williams Syndrome

ERIC Educational Resources Information Center

Reilly, Judy; Losh, Molly; Bellugi, Ursula; Wulfeck, Beverly

2004-01-01

In this cross-population study, we use narratives as a context to investigate language development in children from 4 to 12 years of age from three experimental groups: children with early unilateral focal brain damage (FL; N=52); children with specific language impairment (SLI; N=44); children with Williams syndrome (WMS; N=36), and typically…

Dengue-associated hemophagocytic syndrome in a Japanese traveler: a case report.

PubMed

Kobayashi, Ken-ichiro; Hikone, Mayu; Sakamoto, Naoya; Iwabuchi, Sentaro; Kashiura, Masahiro; Takasaki, Tomohiko; Fujita, Hiroshi; Ohnishi, Kenji

2015-01-01

Hemophagocytic syndrome (HPS) can develop as a complication of dengue in rare cases, but its relationship with dengue is not well known. We report a case of dengue-associated HPS with liver involvement and coagulopathy. The patient, a Japanese female traveler who had recently returned from Thailand, had severe complications of dengue infection, but she recovered fully with symptomatic treatment. © 2014 International Society of Travel Medicine.

Loss-of-function mutations in TNFAIP3 leading to A20 haploinsufficiency cause an early onset autoinflammatory syndrome

PubMed Central

Zhou, Qing; Wang, Hongying; Schwartz, Daniella M.; Stoffels, Monique; Park, Yong Hwan; Zhang, Yuan; Yang, Dan; Demirkaya, Erkan; Takeuchi, Masaki; Tsai, Wanxia Li; Lyons, Jonathan J.; Yu, Xiaomin; Ouyang, Claudia; Chen, Celeste; Chin, David T.; Zaal, Kristien; Chandrasekharappa, Settara C.; Hanson, Eric P.; Yu, Zhen; Mullikin, James C.; Hasni, Sarfaraz A.; Wertz, Ingrid; Ombrello, Amanda K.; Stone, Deborah L.; Hoffmann, Patrycja; Jones, Anne; Barham, Beverly K.; Leavis, Helen L.; van Royen-Kerkof, Annet; Sibley, Cailin; Batu, Ezgi D.; Gül, Ahmet; Siegel, Richard M.; Boehm, Manfred; Milner, Joshua D.; Ozen, Seza; Gadina, Massimo; Chae, JaeJin; Laxer, Ronald M.; Kastner, Daniel L.; Aksentijevich, Ivona

2016-01-01

Systemic autoinflammatory diseases are driven by abnormal activation of innate immunity1. Herein we describe a new syndrome caused by high penetrance heterozygous germline mutations in the NFκB regulatory protein TNFAIP3 (A20) in six unrelated families with early onset systemic inflammation. The syndrome resembles Behçet’s disease (BD), which is typically considered a polygenic disorder with onset in early adulthood2. A20 is a potent inhibitor of the NFκB signaling pathway3. TNFAIP3 mutant truncated proteins are likely to act by haploinsufficiency since they do not exert a dominant-negative effect in overexpression experiments. Patients’ cells show increased degradation of IκBα and nuclear translocation of NFκB p65, and increased expression of NFκB-mediated proinflammatory cytokines. A20 restricts NFκB signals via deubiquitinating (DUB) activity. In cells expressing the mutant A20 protein, there is defective removal of K63-linked ubiquitin from TRAF6, NEMO, and RIP1 after TNF stimulation. NFκB-dependent pro-inflammatory cytokines are potential therapeutic targets for these patients. PMID:26642243

Impaired Circulating Angiogenic Cells Mobilization and Metalloproteinase-9 Activity after Dynamic Exercise in Early Metabolic Syndrome

PubMed Central

Rocha, Natalia G.; Sales, Allan R. K.; Penedo, Leticia A.; Pereira, Felipe S.; Silva, Mayra S.; Miranda, Renan L.; Silva, Jemima F. R.; Silva, Bruno M.; Santos, Aline A.; Nobrega, Antonio C. L.

2015-01-01

Increased levels of adhesion molecules or metalloproteinases (MMPs) may indicate endothelial dysfunction. Exercise mobilizes circulating angiogenic cells (CACs) from bone marrow in healthy subjects, improving vascular function. However, it is unclear whether this mechanism is preserved in the early stages of metabolic syndrome (early MetS). We aimed to evaluate the acute effects of exercise on adhesion molecules, angiogenic factors, MMPs, and CACs in early MetS. Fifteen subjects with early MetS and nine healthy controls underwent an exercise session and a nonexercise session, randomly. Adhesion molecules, angiogenic factors, CACs, and MMPs were evaluated before and after exercise or nonexercise sessions. At baseline, levels of sE-selectin, sICAM-1, and MMP-9 were higher in early MetS than in controls (P ≤ 0.03). After exercise, sE-selectin, sICAM-1, and MMP-9 levels were still higher in early MetS (P < 0.05). Subjects with early MetS presented less CACs (P = 0.02) and higher MMP-9 activity (P ≤ 0.04), while healthy controls presented higher MMP-2 activity after exercise. There was no difference between moments in nonexercise session (P > 0.05). In conclusion, subjects with early MetS already presented impaired endothelial function at rest along with a decrease in CACs and an increase in MMP-9 activity in response to exercise. PMID:26557715

Impaired Circulating Angiogenic Cells Mobilization and Metalloproteinase-9 Activity after Dynamic Exercise in Early Metabolic Syndrome.

PubMed

Rocha, Natalia G; Sales, Allan R K; Penedo, Leticia A; Pereira, Felipe S; Silva, Mayra S; Miranda, Renan L; Silva, Jemima F R; Silva, Bruno M; Santos, Aline A; Nobrega, Antonio C L

2015-01-01

Increased levels of adhesion molecules or metalloproteinases (MMPs) may indicate endothelial dysfunction. Exercise mobilizes circulating angiogenic cells (CACs) from bone marrow in healthy subjects, improving vascular function. However, it is unclear whether this mechanism is preserved in the early stages of metabolic syndrome (early MetS). We aimed to evaluate the acute effects of exercise on adhesion molecules, angiogenic factors, MMPs, and CACs in early MetS. Fifteen subjects with early MetS and nine healthy controls underwent an exercise session and a nonexercise session, randomly. Adhesion molecules, angiogenic factors, CACs, and MMPs were evaluated before and after exercise or nonexercise sessions. At baseline, levels of sE-selectin, sICAM-1, and MMP-9 were higher in early MetS than in controls (P ≤ 0.03). After exercise, sE-selectin, sICAM-1, and MMP-9 levels were still higher in early MetS (P < 0.05). Subjects with early MetS presented less CACs (P = 0.02) and higher MMP-9 activity (P ≤ 0.04), while healthy controls presented higher MMP-2 activity after exercise. There was no difference between moments in nonexercise session (P > 0.05). In conclusion, subjects with early MetS already presented impaired endothelial function at rest along with a decrease in CACs and an increase in MMP-9 activity in response to exercise.

The effect of vertebral fracture on the early neurologic recovery in patients with central cord syndrome.

PubMed

Schroeder, Gregory D; Kepler, Christopher K; Hjelm, Nik; Vaccaro, Alexander R; Weinstein, Michael S

2015-05-01

To compare early changes in the ASIA Motor Score (AMS) between patients with central cord syndrome (CCS) from an acute fracture to patients without a fracture. Patients with CCS were identified and stratified based on the presence of a fracture. The AMS through the first week of the patients' hospitalization was obtained. Initial injury severity as well as early neurologic recovery was measured using the AMS. Analysis of variance was performed to determine if age, gender, rectal tone at presentation, congenital stenosis, or surgery within 24 h significantly effected the change in AMS. A strong trend (p = 0.0504) towards a more severe initial neurologic injury in patients with a fracture (AMS 59.7) than in patients without a fracture (AMS 70.2) was identified. However, in the week after injury, patients with a fracture had an improvement in their neurologic function (ΔAMS +4.8) while patients without a fracture demonstrated neurologic decline (ΔAMS -5.9). The change in AMS between patients with and without a fracture was nearly significant (p = 0.06). Patients with central cord syndrome present with similar symptoms, but injuries with and without a fracture may be associated with a different early neurologic recovery. Patients with a fracture have a more severe injury at initial presentation, but tend to have neurologic improvement in the first week; conversely patients without a fracture have a less severe initial neurologic injury, but tend to have a slight decline in neurologic function over the first week.

Myelodysplastic syndromes and the role of iron overload.

PubMed

Harvey, R Donald

2010-04-01

The epidemiology of myelodysplastic syndromes (MDS) and iron overload, recent clinical findings that highlight the importance of actively managing iron overload, and recommendations for initiating and maintaining iron chelation therapy (ICT) are summarized. MDS are a variety of hematological disorders with differing time courses. Disease morbidities are primarily due to cytopenias and evolution to acute myeloid leukemia. Iron overload is a serious complication in patients with MDS due to the long-term use of red blood cell transfusions in patients with symptomatic anemia. Clinical consequences of iron overload include end-organ damage and dysfunction, an increased frequency of transplant-related complications, and reduced survival rates. To prevent these complications, recommendations for initiating and maintaining ICT should be followed by clinicians caring for patients with MDS and iron overload. As current therapeutic options for patients with MDS do not always reduce the transfusion burden, many patients will still need long-term transfusion therapy. Strategies for the management of iron overload in MDS should be considered early in the disease course and in appropriate patients in order to prevent negative clinical outcomes associated with excessive iron accumulation.

Should symptomatic menopausal women be offered hormone therapy?

PubMed

Lobo, Rogerio A; Bélisle, Serge; Creasman, William T; Frankel, Nancy R; Goodman, Neil F; Hall, Janet E; Ivey, Susan Lee; Kingsberg, Sheryl; Langer, Robert; Lehman, Rebecca; McArthur, Donna Behler; Montgomery-Rice, Valerie; Notelovitz, Morris; Packin, Gary S; Rebar, Robert W; Rousseau, MaryEllen; Schenken, Robert S; Schneider, Diane L; Sherif, Katherine; Wysocki, Susan

2006-01-01

Many physicians remain uncertain about prescribing hormone therapy for symptomatic women at the onset of menopause. The American Society for Reproductive Medicine (ASRM) convened a multidisciplinary group of healthcare providers to discuss the efficacy and risks of hormone therapy for symptomatic women, and to determine whether it would be appropriate to treat women at the onset of menopause who were complaining of menopausal symptoms. Numerous controlled clinical trials consistently demonstrate that hormone therapy, administered via oral, transdermal, or vaginal routes, is the most effective treatment for vasomotor symptoms. Topical vaginal formulations of hormone therapy should be preferred when prescribing solely for the treatment of symptoms of vulvar and vaginal atrophy. Data from the Women's Health Initiative indicate that the overall attributable risk of invasive breast cancer in women receiving estrogen plus progestin was 8 more cases per 10,000 women-years. No increased risk for invasive breast cancer was detected for women who never used hormone therapy in the past or for those receiving estrogen only. Hormone therapy is not effective for the treatment of cardiovascular disease and that the risk of cardiovascular disease with hormone therapy is principally in older women who are considerably postmenopause. Healthy symptomatic women should be offered the option of hormone therapy for menopausal symptoms. Symptom relief with hormone therapy for many younger women (at the onset of menopause) with menopausal symptoms outweighs the risks and may provide an overall improvement in quality of life. Hormone therapy should be individualized for symptomatic women. This involves tailoring the regimen and dose to individual needs.

[Homogeneous spinal-shortening axial decompression procedure for tethered cord syndrome].

PubMed

Wang, Haibo; Sun, Jingchuan; Wang, Yuan; Wu, Zhao; Xu, Tao; Chen, Kefu; Shi, Guodong; Yuan, Wen; Jia, Lianshun; Shi, Jiangang

2015-06-16

Surgical detethering is a traditional treatment for symptomatic tethered cord syndrome. However, such complications as cerebrospinal fluid leakage and neurologic deterioration are common. Homogeneous spinal-shortening axial decompression (HSAD) is a modified procedure of monosegmental spinal-shortening osteotomy and it is a novel surgical alternative of reducing neural tension indirectly. The objective was to evaluate the surgical outcomes of HSAD for tethered cord syndrome. The surgical outcomes were examined for 15 consecutive patients with tethered cord syndrome undergoing HSAD from April 2010 to July 2014. Improvements of neurological symptoms including urinary dysfunction, lower-extremity motor and sensory disturbances and/or gait abnormalities, low-back and/or lower-extremity pain, bowel incontinence and sexual dysfunction were evaluated. Their average follow-up period was 21.5 months. The length of spinal column shortening was 17.2 ± 2.9 mm. Urinary dysfunction (n = 9) was the most common residual deficit. All 9 patients with urological symptoms reported improvements, although deficits persisted at the last follow-up. All patients with lower-extremity motor dysfunction improved and 4 (50.0%) noted complete resolution of preoperative lower-extremity sensory symptoms. All patients reported immediate low-back or lower-extremity pain relief after HSAD. One patient reported improved sexual functioning and regained complete erectile capabilities. Two patients (11%) experienced less satisfactory symptomatic or functional benefit from HSAD. However, the main objective of surgery was to prevent further worsening of neurological status. Complete bone union at osteotomy site was noted in all cases at the last follow-up. As a novel surgical option for tethered cord syndrome, HSAD may avoid such complications as cerebrospinal fluid leakage or neurologic deterioration commonly encountered during traditional detethering surgery. All patients gain satisfactory functional

Streptococcus agalactiae Toxic Shock-Like Syndrome

PubMed Central

Al Akhrass, Fadi; Abdallah, Lina; Berger, Steven; Hanna, Rami; Reynolds, Nina; Thompson, Shellie; Hallit, Rabih; Schlievert, Patrick M.

2013-01-01

Abstract We present 2 patients with Streptococcus agalactiae toxic shock-like syndrome and review another 11 well-reported cases from the literature. Streptococcal toxic shock-like syndrome is a devastating illness with a high mortality rate, therefore we stress the importance of early supportive management, antimicrobial therapy, and surgical intervention. Toxic shock-like syndrome is likely to be underestimated in patients with invasive Streptococcus agalactiae infection who present with shock. Early diagnosis requires high suspicion of the illness, along with a thorough mucocutaneous examination. Streptococcus agalactiae produces uncharacterized pyrogenic toxins, which explains the ability of the organism to cause toxic shock-like syndrome. PMID:23263717

Hypersensitivity to Cold Stimuli in Symptomatic Contact Lens Wearers

PubMed Central

Situ, Ping; Simpson, Trefford; Begley, Carolyn

2016-01-01

Purpose To examine the cooling thresholds and the estimated sensation magnitude at stimulus detection in controls and symptomatic and asymptomatic contact lens (CL) wearers, in order to determine whether detection thresholds depend on the presence of symptoms of dryness and discomfort. Methods 49 adapted CL wearers and 15 non-lens wearing controls had room temperature pneumatic thresholds measured using a custom Belmonte esthesiometer, during Visits 1 and 2 (Baseline CL), Visit 3 (2 weeks no CL wear) and Visit 4 (2 weeks after resuming CL wear). CL wearers were subdivided into symptomatic and asymptomatic groups based on comfortable wearing time (CWT) and CLDEQ-8 score (<8 hours CWT and ≥14 CLDEQ-8 stratified the symptom groups). Detection thresholds were estimated using an ascending method of limits and each threshold was the average of the three first-reported flow rates. The magnitude of intensity, coolness, irritation and pain at detection of the stimulus were estimated using a 1-100 scale (1 very mild, 100 very strong). Results In all measurement conditions, the symptomatic CL wearers were the most sensitive, the asymptomatic CL wearers were the least sensitive and the control group was between the two CL wearing groups (group factor p < 0.001, post hoc asymptomatic vs. symptomatic group, all p’s < 0.015). Similar patterns were found for the estimated magnitude of intensity and irritation (group effect p=0.027 and 0.006 for intensity and irritation, respectively) but not for cooling (p>0.05) at detection threshold. Conclusions Symptomatic CL wearers have higher cold detection sensitivity and report greater intensity and irritation sensation at stimulus detection than the asymptomatic wearers. Room temperature pneumatic esthesiometry may help to better understand the process of sensory adaptation to CL wear. PMID:27046090

Incidence of symptomatic CSF viral escape in HIV infected patients receiving atazanavir/ritonavir (ATV/r)-containing ART: a tertiary care cohort in western India.

PubMed

Patel, Atul K; Patel, Ketan K; Gohel, Swati; Kumar, Ambuj; Letendre, Scott

2018-04-24

This single-center study attempts to quantify the incidence of symptomatic CSF viral escape (CSFVE) in patients receiving atazanavir/r (ATV/r)-containing regimen. We performed a retrospective analysis of patients receiving ATV/r-containing ART who were diagnosed with symptomatic CSFVE from August 2012 to January 2017. Primary objective was to assess the incidence of symptomatic CSFVE in patients receiving ATV/r-containing ART in clinical practice. Incidence rates were calculated by dividing the number of patients who experienced CSFVE by the number of person-months at risk and summarized as per 10,000 (ten thousand) person-months at risk. Nine hundred thirty-three patients receiving ATV/r containing ART with a total of 36,068 person-months of follow-up were included. Incidence rate of symptomatic CSFVE was 4.4 per 10,000 person-months (95% CI 2.7 to 7.2). The incidence of CSFVE was 9.5 per 10,000 person-months (95% CI 5.7 to 15.7) when the nadir CD4 count was ≤ 200 compared to 0.49 (95% CI 0.07 to 3.5) with a nadir CD4 count > 200 (IRR 19.1 (95% CI 2.93 to 802.8), p < 0.0001). Nadir CD4 count ≤ 200 was associated with substantially increased risk of symptomatic CSFVE, further strengthening efforts to diagnose and treat patients early in disease.

Polycystic Ovary Syndrome in Adolescence

PubMed Central

Buggs, Colleen; Rosenfield, Robert L.

2012-01-01

Polycystic ovary syndrome (PCOS) is a syndrome of variable combinations of menstrual irregularity, hirsutism or acne, and obesity. It can be diagnosed in adolescence and has early childhood antecedents. PCOS is the single most common endocrine cause of anovulatory infertility and a major risk factor for the metabolic syndrome and, in turn, development of type 2 diabetes mellitus (T2DM) in women. Thus, it appears that PCOS increases a woman’s risk of developing cardiovascular disease. Therefore, identifying girls at risk for PCOS and implementing treatment early in the development of PCOS may be an effective means of preventing some of the long-term complications associated with this syndrome. This article reviews the definition, clinical features, diagnosis, and treatment of PCOS. PMID:16085166

Restless legs syndrome: an early clinical feature of Parkinson disease in men.

PubMed

Wong, Janice C; Li, Yanping; Schwarzschild, Michael A; Ascherio, Alberto; Gao, Xiang

2014-02-01

The association between restless legs syndrome (RLS) and Parkinson disease has been extensively studied, but the temporal relationship between the two remains unclear. We thus conduct the first prospective study to examine the risk of developing Parkinson disease in RLS. Prospective study from 2002-2010. United States. There were 22,999 US male health professionals age 40-75 y enrolled in the Health Professionals Follow-up Study without Parkinson disease, arthritis, or diabetes mellitus at baseline. RLS was assessed in 2002 using a set of standardized questions recommended by the International RLS Study Group. Incident Parkinson disease was identified by biennial questionnaires and then confirmed by review of participants' medical records by a movement disorder specialist. We documented 200 incident Parkinson disease cases during 8 y of follow-up. Compared to men without RLS, men with RLS symptoms who had symptoms greater than 15 times/mo had higher risk of Parkinson disease development (adjusted relative risk = 1.47; 95% confidence interval: 0.59, 3.65; P = 0.41). This was statistically significant only for cases diagnosed within 4 y of follow-up (adjusted relative risk = 2.77; 95% confidence interval: 1.08, 7.11; P = 0.03). Severe restless legs syndrome may be an early feature of Parkinson disease.

Somatostatin and the dumping syndrome.

PubMed

Long, R G; Adrian, T E; Bloom, S R

1985-03-23

Infusion of somatostatin reduced the symptoms of the early dumping syndrome after oral glucose was given and also reduced the associated tachycardia and rise in packed cell volume. It inhibited the secretion of enteroglucagon, neurotensin, and vasoactive intestinal polypeptide, which are raised in patients with the dumping syndrome and may have an aetiological role. It also prevented the reactive hypoglycaemia of late dumping by inhibiting the release of gastric inhibitory polypeptide and insulin. Somatostatin, possibly through its inhibitory effects on hormonal secretion, may have a role in the management of patients with the early and late dumping syndrome.

Somatostatin and the dumping syndrome.

PubMed Central

Long, R G; Adrian, T E; Bloom, S R

1985-01-01

Infusion of somatostatin reduced the symptoms of the early dumping syndrome after oral glucose was given and also reduced the associated tachycardia and rise in packed cell volume. It inhibited the secretion of enteroglucagon, neurotensin, and vasoactive intestinal polypeptide, which are raised in patients with the dumping syndrome and may have an aetiological role. It also prevented the reactive hypoglycaemia of late dumping by inhibiting the release of gastric inhibitory polypeptide and insulin. Somatostatin, possibly through its inhibitory effects on hormonal secretion, may have a role in the management of patients with the early and late dumping syndrome. PMID:2858244

Chest wall leiomyosarcoma after breast-conservative therapy for early-stage breast cancer in a young woman with Li-Fraumeni syndrome.

PubMed

Henry, Eve; Villalobos, Victor; Million, Lynn; Jensen, Kristin C; West, Robert; Ganjoo, Kristen; Lebensohn, Alexandra; Ford, James M; Telli, Melinda L

2012-08-01

Li-Fraumeni syndrome (LFS) is one of the most penetrant forms of familial cancer susceptibility syndromes, characterized by early age at tumor onset and a wide spectrum of malignant tumors. Identifying LFS in patients with cancer is clinically imperative because they have an increased sensitivity to ionizing radiation and are more likely to develop radiation-induced secondary malignancies. This case report describes a young woman whose initial presentation of LFS was early-onset breast cancer and whose treatment of this primary malignancy with breast conservation likely resulted in a secondary malignancy arising in her radiation field. As seen in this case, most breast cancers in patients with LFS exhibit a triple-positive phenotype (estrogen receptor-positive/progesterone receptor-positive/HER2-positive). Although this patient met classic LFS criteria based on age and personal and family history of cancer, the NCCN Clinical Practice Guidelines in Oncology for Genetic/Familial High-Risk Assessment: Breast and Ovarian Cancer endorse genetic screening for TP53 mutations in a subset of patients with early-onset breast cancer, even in the absence of a suggestive family history, because of the potential for de novo TP53 mutations.

Gorlin-Goltz Syndrome

PubMed Central

Pandeshwar, Padma; Jayanthi, K.; Mahesh, D.

2012-01-01

The Gorlin-Goltz syndrome (GGS) (the nevoid basal cell carcinoma syndrome—NBCCS) is a rare autosomal dominant syndrome caused due to mutations in the PTCH (patched) gene found on chromosome arm 9q. The syndrome, characterized by increased predisposition to develop basal cell carcinoma and associated multiorgan anomalies, has a high level of penetrance and variable expressiveness. GGS is a multidisciplinary problem, early diagnosis of which allows introduction of secondary prophylaxis and following an appropriate treatment to delay the progress of the syndrome. The following report emphasizes the need for awareness of the diagnostic criteria of this syndrome in cases with no typical skin lesions. PMID:23082255

Reduction in symptomatic malaria prevalence through proactive community treatment in rural Senegal.

PubMed

Linn, Annē M; Ndiaye, Youssoupha; Hennessee, Ian; Gaye, Seynabou; Linn, Patrick; Nordstrom, Karin; McLaughlin, Matt

2015-11-01

We piloted a community-based proactive malaria case detection model in rural Senegal to evaluate whether this model can increase testing and treatment and reduce prevalence of symptomatic malaria in target communities. Home care providers conducted weekly sweeps of every household in their village throughout the transmission season to identify patients with symptoms of malaria, perform rapid diagnostic tests (RDT) on symptomatic patients and provide treatment for positive cases. The model was implemented in 15 villages from July to November 2013, the high transmission season. Fifteen comparison villages were chosen from those implementing Senegal's original, passive model of community case management of malaria. Three sweeps were conducted in the comparison villages to compare prevalence of symptomatic malaria using difference in differences analysis. At baseline, prevalence of symptomatic malaria confirmed by RDT for all symptomatic individuals found during sweeps was similar in both sets of villages (P = 0.79). At end line, prevalence was 16 times higher in the comparison villages than in the intervention villages (P = 0.003). Adjusting for potential confounders, the intervention was associated with a 30-fold reduction in odds of symptomatic malaria in the intervention villages (AOR = 0.033; 95% CI: 0.017, 0.065). Treatment seeking also increased in the intervention villages, with 57% of consultations by home care providers conducted between sweeps through routine community case management. This pilot study suggests that community-based proactive case detection reduces symptomatic malaria prevalence, likely through more timely case management and improved care seeking behaviour. A randomised controlled trial is needed to further evaluate the impact of this model. © 2015 John Wiley & Sons Ltd.

Early intervention for adolescents with Patellofemoral Pain Syndrome - a pragmatic cluster randomised controlled trial

PubMed Central

2012-01-01

Background Self-reported knee pain is highly prevalent among adolescents. As much as 50% of the non-specific knee pain may be attributed to Patellofemoral Pain Syndrome (PFPS). In the short term, exercise therapy appears to have a better effect than patient education consisting of written information and general advice on exercise or compared with placebo treatment. But the long-term effect of exercise therapy compared with patient education is conflicting. The purpose of this study is to examine the short- and long-term effectiveness of patient education compared with patient education and multimodal physiotherapy applied at a very early stage of the condition among adolescents. Methods/Design This study is a single blind pragmatic cluster randomised controlled trial. Four upper secondary schools have been invited to participate in the study (approximately 2500 students, aged 15-19 years). Students are asked to answer an online questionnaire regarding musculoskeletal pain. The students who report knee pain are contacted by telephone and offered a clinical examination by a rheumatologist. Subjects who fit the inclusion criteria and are diagnosed with PFPS are invited to participate in the study. A minimum of 102 students with PFPS are then cluster-randomised into two intervention groups based on which school they attend. Both intervention groups receive written information and education. In addition to patient education, one group receives multimodal physiotherapy consisting primarily of neuromuscular training of the muscles around the foot, knee and hip and home exercises. The students with PFPS fill out self-reported questionnaires at baseline, 3, 6, 12 and 24 months after inclusion in the study. The primary outcome measure is perception of recovery measured on a 7-point Likert scale ranging from "completely recovered" to "worse than ever" at 12 months. Discussion This study is designed to investigate the effectiveness of patient education compared with patient

Early versus delayed invasive strategy for intermediate- and high-risk acute coronary syndromes managed without P2Y12 receptor inhibitor pretreatment: Design and rationale of the EARLY randomized trial.

PubMed

Lemesle, Gilles; Laine, Marc; Pankert, Mathieu; Puymirat, Etienne; Cuisset, Thomas; Boueri, Ziad; Maillard, Luc; Armero, Sébastien; Cayla, Guillaume; Bali, Laurent; Motreff, Pascal; Peyre, Jean-Pascal; Paganelli, Franck; Kerbaul, François; Roch, Antoine; Michelet, Pierre; Baumstarck, Karine; Bonello, Laurent

2018-01-01

According to recent literature, pretreatment with a P2Y 12 ADP receptor antagonist before coronary angiography appears no longer suitable in non-ST-segment elevation acute coronary syndrome (NSTE-ACS) due to an unfavorable risk-benefit ratio. Optimal delay of the invasive strategy in this specific context is unknown. We hypothesize that without P2Y 12 ADP receptor antagonist pretreatment, a very early invasive strategy may be beneficial. The EARLY trial (Early or Delayed Revascularization for Intermediate- and High-Risk Non-ST-Segment Elevation Acute Coronary Syndromes?) is a prospective, multicenter, randomized, controlled, open-label, 2-parallel-group study that plans to enroll 740 patients. Patients are eligible if the diagnosis of intermediate- or high-risk NSTE-ACS is made and an invasive strategy intended. Patients are randomized in a 1:1 ratio. In the control group, a delayed strategy is adopted, with the coronary angiography taking place between 12 and 72 hours after randomization. In the experimental group, a very early invasive strategy is performed within 2 hours. A loading dose of a P2Y 12 ADP receptor antagonist is given at the time of intervention in both groups. Recruitment began in September 2016 (n = 558 patients as of October 2017). The primary endpoint is the composite of cardiovascular death and recurrent ischemic events at 1 month. The EARLY trial aims to demonstrate the superiority of a very early invasive strategy compared with a delayed strategy in intermediate- and high-risk NSTE-ACS patients managed without P2Y 12 ADP receptor antagonist pretreatment. © 2018 Wiley Periodicals, Inc.

Corrective Osteotomy for Symptomatic Clavicle Malunion Using Patient-specific Osteotomy and Reduction Guides.

PubMed

Haefeli, Mathias; Schenkel, Matthias; Schumacher, Ralf; Eid, Karim

2017-09-01

Midshaft clavicular fractures are often treated nonoperatively with good reported clinical outcome in a majority of patients. However, malunion with shortening of the affected clavicle is not uncommon. Shortening of the clavicle has been shown to affect shoulder strength and kinematics with alteration of scapular position. Whereas the exact clinical impact of these factors is unknown, the deformity may lead to cosmetic and functional impairment as for example pain with weight-bearing on the shoulder girdle. Other reported complications of clavicular malunion include thoracic outlet syndrome, subclavicular vein thrombosis, and axillary plexus compression. Corrective osteotomy has therefore been recommended for symptomatic clavicular malunions, generally using plain x-rays for planning the necessary elongation. Particularly in malunited multifragmentary fractures it may be difficult to exactly determine the plane of osteotomy intraoperatively to restore the precise anatomic shape of the clavicle. We present a technique for corrective osteotomy using preoperative computer planning and 3-dimensional printed patient-specific intraoperative osteotomy and reduction guides based on the healthy contralateral clavicle.

Defect in IgV gene somatic hypermutation in common variable immuno-deficiency syndrome.

PubMed

Levy, Y; Gupta, N; Le Deist, F; Garcia, C; Fischer, A; Weill, J C; Reynaud, C A

1998-10-27

Common Variable Immuno-Deficiency (CVID) is the most common symptomatic primary antibody-deficiency syndrome, but the basic immunologic defects underlying this syndrome are not well defined. We report here that among eight patients studied (six CVID and two hypogammaglobulinemic patients with recurrent infections), there is in two CVID patients a dramatic reduction in Ig V gene somatic hypermutation with 40-75% of IgG transcripts totally devoid of mutations in the circulating memory B cell compartment. Functional assays of the T cell compartment point to an intrinsic B cell defect in the process of antibody affinity maturation in these two cases.

The ESSENCE in Child Psychiatry: Early Symptomatic Syndromes Eliciting Neurodevelopmental Clinical Examinations

ERIC Educational Resources Information Center

Gillberg, Christopher

2010-01-01

Co-existence of disorders--including attention-deficit/hyperactivity disorder, oppositional defiant disorder, tic disorder, developmental coordination disorder, and autism spectrum disorder--and sharing of symptoms across disorders (sometimes referred to as comorbidity) is the rule rather than the exception in child psychiatry and developmental…

Population-based study of capsular warning syndrome and prognosis after early recurrent TIA.

PubMed

Paul, Nicola L M; Simoni, Michela; Chandratheva, Arvind; Rothwell, Peter M

2012-09-25

Many guidelines recommend emergency assessment for patients with ≥2 TIAs within 7 days, perhaps in recognition of the capsular warning syndrome. However, it is unclear whether all patients with multiple TIAs are at high early risk of stroke and whether treatable underlying pathologies are more prevalent in this group. We studied clinical characteristics, Trial of Org 10172 in Acute Stroke Treatment (TOAST) classification, and risk of stroke in 1,000 consecutive patients with incident and recurrent TIAs in a prospective, population-based study (Oxford Vascular Study). Of 1,000 patients with TIAs, 170 had a further TIA within 7 days (105 within 24 hours). Multiple TIAs were not associated with carotid stenosis or atrial fibrillation, and much of the 10.6 (95% confidence interval [CI] 6.5-15.9) risk of stroke during the 7 days after the first TIA was due to patients with small-vessel disease (SVD) etiology (10 of 24 vs 8 of 146, odds ratio [OR] = 12.3, 95% CI 3.7-41.9, p < 0.0001), particularly those with motor weakness (i.e., capsular warning syndrome) compared with hemisensory events (9 of 15 [60%], 95% CI 35.3-84.7 vs 1 of 9 [11.1%], 95% CI 0-31.7, p = 0.03). The 7-day risk of stroke after a recurrent TIA was similar to the risk after a single TIA in patients with non-SVD TIA (8 of 146 [5.5%] vs 76 of 830 [9.2%], OR = 0.58, 95% CI 0.25-1.3, p = 0.20). Of the 9 patients with stroke after a capsular warning syndrome, all had the recurrent TIA within 24 hours after the first TIA, and the subsequent stroke occurred within 72 hours of the second TIA in 8. The ABCD2 scores of all preceding TIAs were ≥4 in all 9 patients with capsular warning syndrome before stroke. Capsular warning syndrome is rare (1.5% of TIA presentations) but has a poor prognosis (7-day stroke risk of 60%). Otherwise, recurrent TIA within 7 days is not associated with a greater stroke risk than that after a single TIA.

Metabolic syndrome in young people.

PubMed

Poyrazoglu, Sukran; Bas, Firdevs; Darendeliler, Feyza

2014-02-01

The prevalence of obesity is on the increase, and consequently metabolic syndrome is also becoming a serious health problem in children and adolescents all over the world. This review attempts to summarize the recent literature on metabolic syndrome in children and adolescents. To date, a standard definition of metabolic syndrome for the pediatric population is not available. Recently, the International Diabetes Federation has proposed a new set of criteria to define metabolic syndrome in children and adolescents aged 6-16 years. The relationships between obesity, insulin resistance and metabolic syndrome may be explained by the pattern of lipid partitioning. Fatty liver plays a central role in the insulin-resistant state in obese adolescents. Although insulin resistance has been proposed as the central factor leading to the abnormalities observed in metabolic syndrome, most definitions of metabolic syndrome use impaired fasting glucose as a marker. Nutrition impairment during both prenatal and early postnatal life can cause metabolic disturbances leading to insulin-resistance, type 2 diabetes, hypertension and cardiovascular disease. Metabolic syndrome prevalence in children and adolescents is on the increase. Therefore, the emphasis in all studies and programs related to metabolic syndrome should be focused on prevention, early detection of metabolic risk factors and interventions that will have a significant impact on future adult health.

Silent myocardial ischemia in patients with symptomatic intracranial atherosclerosis: associated factors.

PubMed

Arenillas, Juan F; Candell-Riera, Jaume; Romero-Farina, Guillermo; Molina, Carlos A; Chacón, Pilar; Aguadé-Bruix, Santiago; Montaner, Joan; de León, Gustavo; Castell-Conesa, Joan; Alvarez-Sabín, José

2005-06-01

Optimization of coronary risk evaluation in stroke patients has been encouraged. The relationship between symptomatic intracranial atherosclerosis and occult coronary artery disease (CAD) has not been evaluated sufficiently. We aimed to investigate the prevalence of silent myocardial ischemia in patients with symptomatic intracranial atherosclerosis and to identify factors associated with its presence. From 186 first-ever transient ischemic attack or ischemic stroke patients with intracranial stenoses, 65 fulfilled selection criteria, including angiographic confirmation of a symptomatic atherosclerotic stenosis and absence of known CAD. All patients underwent a maximal-stress myocardial perfusion single-photon emission computed tomography (SPECT). Lipoprotein(a) [Lp(a)], C-reactive protein, and homocysteine (Hcy) levels were determined before SPECT. Stress-rest SPECT detected reversible myocardial perfusion defects in 34 (52%) patients. Vascular risk factors associated with a pathologic SPECT were hypercholesterolemia (P=0.045), presence of >2 risk factors (P=0.004) and high Lp(a) (P=0.023) and Hcy levels (P=0.018). Ninety percent of patients with high Lp(a) and Hcy levels had a positive SPECT. Existence of a stenosed intracranial internal carotid artery (ICA; odds ratio [OR], 7.22, 2.07 to 25.23; P=0.002) and location of the symptomatic stenosis in vertebrobasilar arteries (OR, 4.89, 1.19 to 20.12; P=0.027) were independently associated with silent myocardial ischemia after adjustment by age, sex, and risk factors. More than 50% of the patients with symptomatic intracranial atherosclerosis and not overt CAD show myocardial perfusion defects on stress-rest SPECT. Stenosed intracranial ICA, symptomatic vertebrobasilar stenosis and presence of high Lp(a) and Hcy levels may characterize the patients at a higher risk for occult CAD.

Upper airway resistance syndrome.

PubMed

Montserrat, J M; Badia, J R

1999-03-01

This article reviews the clinical picture, diagnosis and management of the upper airway resistance syndrome (UARS). Presently, there is not enough data on key points like the frequency of UARS and the morbidity associated with this condition. Furthermore, the existence of LIARS as an independent sleep disorder and its relation with snoring and obstructive events is in debate. The diagnosis of UARS is still a controversial issue. The technical limitations of the classic approach to monitor airflow with thermistors and inductance plethysmography, as well as the lack of a precise definition of hypopnea, may have led to a misinterpretation of UARS as an independent diagnosis from the sleep apnea/hypopnea syndrome. The diagnosis of this syndrome can be missed using a conventional polysomnographic setting unless appropriate techniques are applied. The use of an esophageal balloon to monitor inspiratory effort is currently the gold standard. However, other sensitive methods such as the use of a pneumotachograph and, more recently, nasal cannula/pressure transducer systems or on-line monitoring of respiratory impedance with the forced oscillation technique may provide other interesting possibilities. Recognition and characterization of this subgroup of patients within sleep breathing disorders is important because they are symptomatic and may benefit from treatment. Management options to treat UARS comprise all those currently available for sleep apnea/hypopnea syndrome (SAHS). However, the subset of patients classically identified as LIARS that exhibit skeletal craneo-facial abnormalities might possibly obtain further benefit from maxillofacial surgery.

Value of syndromic surveillance within the Armed Forces for early warning during a dengue fever outbreak in French Guiana in 2006

PubMed Central

Meynard, Jean-Baptiste; Chaudet, Hervé; Texier, Gaetan; Ardillon, Vanessa; Ravachol, Françoise; Deparis, Xavier; Jefferson, Henry; Dussart, Philippe; Morvan, Jacques; Boutin, Jean-Paul

2008-01-01

Background A dengue fever outbreak occured in French Guiana in 2006. The objectives were to study the value of a syndromic surveillance system set up within the armed forces, compared to the traditional clinical surveillance system during this outbreak, to highlight issues involved in comparing military and civilian surveillance systems and to discuss the interest of syndromic surveillance for public health response. Methods Military syndromic surveillance allows the surveillance of suspected dengue fever cases among the 3,000 armed forces personnel. Within the same population, clinical surveillance uses several definition criteria for dengue fever cases, depending on the epidemiological situation. Civilian laboratory surveillance allows the surveillance of biologically confirmed cases, within the 200,000 inhabitants. Results It was shown that syndromic surveillance detected the dengue fever outbreak several weeks before clinical surveillance, allowing quick and effective enhancement of vector control within the armed forces. Syndromic surveillance was also found to have detected the outbreak before civilian laboratory surveillance. Conclusion Military syndromic surveillance allowed an early warning for this outbreak to be issued, enabling a quicker public health response by the armed forces. Civilian surveillance system has since introduced syndromic surveillance as part of its surveillance strategy. This should enable quicker public health responses in the future. PMID:18597694

Neurocognitive findings in Prader-Willi syndrome and early-onset morbid obesity.

PubMed

Miller, Jennifer; Kranzler, John; Liu, Yijun; Schmalfuss, Ilona; Theriaque, Douglas W; Shuster, Jonathan J; Hatfield, Ann; Mueller, O Thomas; Goldstone, Anthony P; Sahoo, Trilochan; Beaudet, Arthur L; Driscoll, Daniel J

2006-08-01

To examine whether early-onset morbid obesity is associated with cognitive impairment, neuropathologic changes, and behavioral problems. This case-control study compared head MRI scans and cognitive, achievement, and behavioral evaluations of subjects with Prader-Willi syndrome (PWS), early-onset morbid obesity (EMO), and normal-weight sibling control subjects from both groups. Head MRI was done on 17 PWS, 18 EMO, and 21 siblings, and cognitive, achievement, and behavioral evaluations were done on 19 PWS, 17 EMO, and 24 siblings. The mean General Intellectual Ability score of the EMO group was 77.4 +/- 17.8; PWS, 63.3 +/- 14.2; and control subjects, 106.4 +/- 13.0. Achievement scores for the three groups were EMO, 78.7 +/- 18.8; PWS, 71.2 +/- 17.0; and control subjects, 104.8 +/- 17.0. Significant negative behaviors and poor adaptive skills were found in the EMO group. White matter lesions were noted on brain MRI in 6 subjects with PWS and 5 with EMO. None of the normal-weight control subjects had these findings. Individuals with EMO have significantly lower cognitive function and more behavioral problems than control subjects with no history of childhood obesity. Both EMO and PWS subjects have white matter lesions on brain MRI that have not previously been described.

Breastfeeding and early infection in the aetiology of childhood leukaemia in Down syndrome.

PubMed

Flores-Lujano, J; Perez-Saldivar, M L; Fuentes-Pananá, E M; Gorodezky, C; Bernaldez-Rios, R; Del Campo-Martinez, M A; Martinez-Avalos, A; Medina-Sanson, A; Paredes-Aguilera, R; De Diego-Flores Chapa, J; Bolea-Murga, V; Rodriguez-Zepeda, M C; Rivera-Luna, R; Palomo-Colli, M A; Romero-Guzman, L; Perez-Vera, P; Alvarado-Ibarra, M; Salamanca-Gómez, F; Fajardo-Gutierrez, A; Mejía-Aranguré, J M

2009-09-01

For a child to develop acute leukaemia (AL), environmental exposure may not be sufficient: interaction with a susceptibility factor to the disease, such as Down syndrome (DS), may also be necessary. We assessed whether breastfeeding and early infection were associated with the risk of developing AL in children with DS. Children with DS in Mexico City, and either with or without AL, were the cases (N=57) and controls (N=218), respectively. Population was divided in children with AL and with acute lymphoblastic leukaemia (ALL) and also in children < or = 6 and >6 years old. Breastfeeding and early infections showed moderate (but not significant) association for AL, whereas hospitalisation by infection during the first year of life increased the risk: odds ratios (confidence interval 95%) were 0.84 (0.43-1.61), 1.70 (0.82-3.52); and 3.57 (1.59-8.05), respectively. A similar result was obtained when only ALL was analysed. We found that breastfeeding was a protective factor for developing AL and ALL, and during the first year of life, infections requiring hospitalisation were related to a risk for developing the disease in those children with DS >6 years of age. These data do not support the Greaves's hypothesis of early infection being protective for developing ALL.

Cannabis Hyperemesis Syndrome in the Emergency Department: How Can a Specialized Addiction Team Be Useful? A Pilot Study.

PubMed

Pélissier, Fanny; Claudet, Isabelle; Gandia-Mailly, Peggy; Benyamina, Amine; Franchitto, Nicolas

2016-11-01

Chronic cannabis users may experience cyclical episodes of nausea and vomiting and learned behavior of hot bathing. This clinical condition, known as cannabis hyperemesis syndrome, was first reported in 2004. Our aim was to promote early recognition of this syndrome in emergency departments (EDs) and to increase referral to addiction specialists. Cannabis abusers were admitted to the ED for vomiting or abdominal pain from June 1, 2014 to January 1, 2015 and diagnosed with cannabis hyperemesis syndrome by a specialized addiction team. Then, medical records were examined retrospectively. Seven young adults were included. Their mean age was 24.7 years (range 17-39 years) and the majority were men (male-to-female ratio 1.2). Biological and toxicological blood samples were taken in all patients. Tetrahydrocannabinol blood level was measured in 4 patients, with a mean blood concentration of 11.6 ng/mL. Radiographic examination including abdominal computed tomography and brain imaging were negative, as was upper endoscopy. Five patients compulsively took hot baths in an attempt to decrease the symptoms. Treatment was symptomatic. Five patients have started follow-up with the specialized addiction team. Cannabis hyperemesis syndrome is still under-diagnosed 10 years after it was first described. Physicians should be aware of this syndrome to avoid repeated hospitalizations or esophageal complications. Greater awareness should lead to prompt treatment and prevention of future recurrence through cannabis cessation. Addiction specialists, as well as medical toxicologists, are experts in the management of cannabis abusers and can help re-establish the role of medical care in this population in collaboration with emergency physicians. Copyright © 2016 Elsevier Inc. All rights reserved.

Sites of Successful Ventricular Fibrillation Ablation in Bileaflet Mitral Valve Prolapse Syndrome.

PubMed

Syed, Faisal F; Ackerman, Michael J; McLeod, Christopher J; Kapa, Suraj; Mulpuru, Siva K; Sriram, Chenni S; Cannon, Bryan C; Asirvatham, Samuel J; Noseworthy, Peter A

2016-05-01

Although the vast majority of mitral valve prolapse (MVP) is benign, a small subset of patients, predominantly women, with bileaflet prolapse, complex ventricular ectopy (VE), and abnormal T waves comprise the recently described bileaflet MVP syndrome. We compared findings on electrophysiological study in bileaflet MVP syndrome patients with and without cardiac arrest to identify factors that may predispose to malignant ventricular arrhythmia. Fourteen consecutive bileaflet MVP syndrome patients (n=13 women; median [limits], age at index ablation, 33.8 [21.0-58.7] years; ejection fraction, 60% [45%-67%]; all ≤ moderate mitral regurgitation; n=6 with previous cardiac arrest and implantable cardioverter defibrillator shocks for ventricular fibrillation; and n=8 without implantable cardioverter defibrillator although with symptomatic complex VE) were included. The 2 groups had similar baseline echocardiographic and electrocardiographic characteristics. All patients had at least 1 left ventricular papillary or fascicular VE focus. Purkinje origin VE was identified as the ventricular fibrillation trigger in 6 of 6 cardiac arrest patients (4 from papillary muscle) and Purkinje origin of dominant VE was seen in 5 of 8 (3 from papillary muscle) nonarrest patients. Acute success was seen in 17 of 19 procedures, and a ventricular fibrillation storm occurred within 24 hours of ablation in a single patient. Repeat ablation for recurrent symptomatic arrhythmia was performed in 6 patients. At 478 (39-2099) days of follow-up, 2 cardiac arrest patients received appropriate shocks. Symptoms from VE were reduced in 12 of 14. Bileaflet MVP syndrome is characterized by fascicular and papillary muscle VE that triggers ventricular fibrillation. Ablation of clinically dominant VE foci improves symptoms and reduces appropriate implantable cardioverter defibrillator shocks. © 2016 American Heart Association, Inc.

Early diagnosis of Budd-Chiari syndrome by computed tomography and ultrasonography: report of five cases

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

Baert, A.L.; Fevery, J.; Marchal, G.

1983-03-01

In 5 patients with Budd-Chiari syndrome, computed tomography after intravenous bolus injection of iodinated contrast agents demonstrated images not previously seen in other diseases. The images are compatible with stagnation of contrast material at the periphery of the liver. In 3 of the 5 cases, grey-scale ultrasonography failed to document the normal hepatic veins draining into the inferior caval vein, but showed an intrahepatic network of comma-shaped venous structures. It is proposed that these two noninvasive approaches can help in establishing an early diagnosis.

Cornelia de Lange Syndrome Foundation

MedlinePlus

... Cornelia de Lange Syndrome (CdLS) Foundation is a family support organization that exists to ensure early and accurate diagnosis of CdLS, promote research into the causes and manifestations of the syndrome, ...

What Causes Rett Syndrome?

MedlinePlus

... early-onset seizure variant of Rett syndrome. Human Molecular Genetics , Jul 15;14(14), 1935–1946. Retrieved June ... Dragich, J., & Schanen, C. (2003). Rett Syndrome: Clinical-Molecular Correlates. In G. Fisch (Ed.), Genetics and neurobehavioral disorders (pp. 391–418). Totowa, NJ: ...

Clostridium difficile rates in asymptomatic and symptomatic hospitalized patients using nucleic acid testing.

PubMed

Truong, Cynthia; Schroeder, Lee F; Gaur, Rajiv; Anikst, Victoria Emma; Komo, Ikuko; Watters, Colleen; McCalley, Erin; Kulik, Carole; Pickham, David; Lee, Nancy J; Banaei, Niaz

2017-04-01

The Clostridium difficile rate in symptomatic patients represents both those with C. difficile infection (CDI) and those with colonization. To predict the extent of CDI overdiagnosis, we compared the asymptomatic colonization rate to the symptomatic positivity rate in hospitalized patients using nucleic acid testing. Between July 2014 and April 2015, formed stool samples were collected from asymptomatic patients after admission to 3 hospital wards at the Stanford Hospital. Stool samples from symptomatic patients with suspected CDI in the same wards were collected for testing per provider order. The GeneXpert C. difficile tcdB polymerase chain reaction (PCR) assay (Cepheid, Sunnyvale, CA, USA) was performed on all stool samples and PCR cycle threshold was used as a measure of genomic equivalents. Chart review was performed to obtain clinical history and medication exposure. We found an asymptomatic C. difficile carriage rate of 11.8% (43/365) (95% confidence interval [CI], 8.5-15.1%) and a positivity rate in symptomatic patients of 15.4% (54/351) (95% CI, 11.6-19.2%; P=0.19). The median PCR cycle thresholds was not significantly different between asymptomatic carriers and symptomatic positives (29.5 versus 27.3; P=0.07). Among asymptomatic patients, 11.6% (5/43) of carriers and 8.4% (27/322; P=0.56) of noncarriers subsequently became symptomatic CDI suspects within the same hospitalization. Single and multivariate analysis did not identify any demographic or clinical factors as being significantly associated with C. difficile carriage. Asymptomatic C. difficile carriage rate was similar to symptomatic positivity rate. This suggests the majority of PCR-positive results in symptomatic patients are likely due to C. difficile colonization. Disease-specific biomarkers are needed to accurately diagnose patients with C. difficile disease. Copyright © 2017 Elsevier Inc. All rights reserved.

The Nature of Iron Deposits Differs between Symptomatic and Asymptomatic Carotid Atherosclerotic Plaques

PubMed Central

Kopriva, David; Kisheev, Anastasye; Meena, Deiter; Pelle, Shaneen; Karnitsky, Max; Lavoie, Andrea; Buttigieg, Josef

2015-01-01

Iron within atherosclerotic plaque has been implicated as a catalyst of oxidative stress that causes progression of plaque, and plaque rupture. Iron is believed to accumulate within plaque by incorporation of erythrocytes following plaque rupture and hemorrhage. There is only indirect evidence to support this hypothesis. Plaque specimens were obtained from ten symptomatic and fifteen asymptomatic patients undergoing carotid endarterectomy at a single institution. Plaques were sectioned for study using synchrotron radiation induced X-ray fluorescence the study the distribution of zinc, calcium and iron. Histologic staining was carried out with Prussian Blue, and immunohistochemical staining was done to localize macrophages with CD68. Data were compared against patient clinical variables. Ten symptomatic (15 ± 10 days between index symptoms and surgery) and fifteen asymptomatic carotid plaques were studied. Zinc and calcium co-localized in mineralized areas of symptomatic and asymptomatic plaque. Iron was identified away from zinc and calcium in both symptomatic and asymptomatic plaques. Within the symptomatic plaques, iron was found within the thrombus associated with plaque rupture and hemorrhage. It did not stain with Prussian Blue, but was found in association with CD68 positive macrophages. In symptomatic plaques, the abundance of iron showed an association with the source patient’s LDL cholesterol (R2 = 0.39, Significance F = 0.05). Iron in asymptomatic plaque was present as hemosiderin/ferritin that stained positive with Prussian Blue, and was observed in association with CD68 positive macrophages. Iron in acutely symptomatic plaques is found within thrombus, in the presence of macrophages. The abundance of iron in symptomatic plaques is associated with the source patient’s LDL cholesterol. Within asymptomatic plaques, iron is found in association with macrophages, as hemosiderin/ferritin. PMID:26606178

The nature of iron deposits differs between symptomatic and asymptomatic carotid atherosclerotic plaques

DOE PAGES

Kopriva, David; Kisheev, Anastasye; Meena, Deiter; ...

2015-11-25

Iron within atherosclerotic plaque has been implicated as a catalyst of oxidative stress that causes progression of plaque, and plaque rupture. Iron is believed to accumulate within plaque by incorporation of erythrocytes following plaque rupture and hemorrhage. There is only indirect evidence to support this hypothesis. Plaque specimens were obtained from ten symptomatic and fifteen asymptomatic patients undergoing carotid endarterectomy at a single institution. Plaques were sectioned for study using synchrotron radiation induced X-ray fluorescence the study the distribution of zinc, calcium and iron. Histologic staining was carried out with Prussian Blue, and immunohistochemical staining was done to localize macrophagesmore » with CD68. Data were compared against patient clinical variables. Ten symptomatic (15 ± 10 days between index symptoms and surgery) and fifteen asymptomatic carotid plaques were studied. Zinc and calcium co-localized in mineralized areas of symptomatic and asymptomatic plaque. Iron was identified away from zinc and calcium in both symptomatic and asymptomatic plaques. Within the symptomatic plaques, iron was found within the thrombus associated with plaque rupture and hemorrhage. It did not stain with Prussian Blue, but was found in association with CD68 positive macrophages. In symptomatic plaques, the abundance of iron showed an association with the source patient’s LDL cholesterol (R 2 = 0.39, Significance F = 0.05). Iron in asymptomatic plaque was present as hemosiderin/ferritin that stained positive with Prussian Blue, and was observed in association with CD68 positive macrophages. Iron in acutely symptomatic plaques is found within thrombus, in the presence of macrophages. Moreover, the abundance of iron in symptomatic plaques is associated with the source patient’s LDL cholesterol. Within asymptomatic plaques, iron is found in association with macrophages, as hemosiderin/ferritin.« less

Pelvic Rotation in Femoroacetabular Impingement Is Decreased Compared to Other Symptomatic Hip Conditions.

PubMed

Azevedo, Daniel Camara; Paiva, Edson Barreto; Lopes, Alexia Moura Abuhid; Santos, Henrique de Oliveira; Carneiro, Ricardo Luiz; Rodrigues, André Soares; de Andrade, Marco Antonio Percope; Novais, Eduardo N; Van Dillen, Linda R

2016-11-01

Study Design Cross-sectional, case-control design. Background Pelvic movement has been considered a possible discriminating parameter associated with femoroacetabular impingement (FAI) symptom onset. Decreased pelvic rotation has been found during squatting in people with FAI when compared to people with healthy hips. However, it is possible that changes in pelvic movement may occur in other hip conditions because of pain and may not be specific to FAI. Objectives To compare sagittal pelvic rotation during hip flexion and in sitting between people with FAI and people with other symptomatic hip conditions. Methods Thirty people with symptomatic FAI, 30 people with other symptomatic hip conditions, and 20 people with healthy hips participated in the study. Sagittal pelvic rotation was calculated based on measures of pelvic alignment in standing, hip flexion to 45° and 90°, and sitting. Results There were significant differences in sagittal pelvic rotation among the 3 groups in all conditions (P<.05). Post hoc analyses revealed that participants in the symptomatic FAI group had less pelvic rotation during hip flexion to 45° and 90° compared to participants in the other symptomatic hip conditions group and the hip-healthy group (mean difference, 1.2°-1.9°). In sitting, participants in the other symptomatic hip conditions group had less posterior pelvic rotation compared to those in the hip-healthy group (mean difference, 3.9°). Conclusion People with symptomatic FAI have less posterior pelvic rotation during hip flexion when compared to people with other symptomatic hip conditions and those with healthy hips. Level of Evidence Diagnosis, level 4. J Orthop Sports Phys Ther 2016;46(11):957-964. Epub 29 Sep 2016. doi:10.2519/jospt.2016.6713.

The nature of iron deposits differs between symptomatic and asymptomatic carotid atherosclerotic plaques

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

Kopriva, David; Kisheev, Anastasye; Meena, Deiter

Iron within atherosclerotic plaque has been implicated as a catalyst of oxidative stress that causes progression of plaque, and plaque rupture. Iron is believed to accumulate within plaque by incorporation of erythrocytes following plaque rupture and hemorrhage. There is only indirect evidence to support this hypothesis. Plaque specimens were obtained from ten symptomatic and fifteen asymptomatic patients undergoing carotid endarterectomy at a single institution. Plaques were sectioned for study using synchrotron radiation induced X-ray fluorescence the study the distribution of zinc, calcium and iron. Histologic staining was carried out with Prussian Blue, and immunohistochemical staining was done to localize macrophagesmore » with CD68. Data were compared against patient clinical variables. Ten symptomatic (15 ± 10 days between index symptoms and surgery) and fifteen asymptomatic carotid plaques were studied. Zinc and calcium co-localized in mineralized areas of symptomatic and asymptomatic plaque. Iron was identified away from zinc and calcium in both symptomatic and asymptomatic plaques. Within the symptomatic plaques, iron was found within the thrombus associated with plaque rupture and hemorrhage. It did not stain with Prussian Blue, but was found in association with CD68 positive macrophages. In symptomatic plaques, the abundance of iron showed an association with the source patient’s LDL cholesterol (R 2 = 0.39, Significance F = 0.05). Iron in asymptomatic plaque was present as hemosiderin/ferritin that stained positive with Prussian Blue, and was observed in association with CD68 positive macrophages. Iron in acutely symptomatic plaques is found within thrombus, in the presence of macrophages. Moreover, the abundance of iron in symptomatic plaques is associated with the source patient’s LDL cholesterol. Within asymptomatic plaques, iron is found in association with macrophages, as hemosiderin/ferritin.« less

Early Language Development in Infants and Toddlers with Fragile X Syndrome: Change over Time and the Role of Attention

PubMed Central

Kover, Sara T.; McCary, Lindsay M.; Ingram, Alexandra M.; Hatton, Deborah D.; Roberts, Jane E.

2017-01-01

Fragile X syndrome (FXS) is associated with significant language and communication delays, as well as problems with attention. This study investigated early language abilities in infants and toddlers with FXS (n = 13) and considered visual attention as a predictor of those skills. We found that language abilities increased over the study period of 9 to 24 months with moderate correlations among language assessments. In comparison to typically developing infants (n = 11), language skills were delayed beyond chronological age- and developmental level-expectations. Aspects of early visual attention predicted later language ability. Atypical visual attention is an important aspect of the FXS phenotype with implications for early language development, particularly in the domain of vocabulary. PMID:25715182

Genetic Comparison of Symptomatic and Asymptomatic Persons With Alzheimer Disease Neuropathology.

PubMed

Monsell, Sarah E; Mock, Charles; Fardo, David W; Bertelsen, Sarah; Cairns, Nigel J; Roe, Catherine M; Ellingson, Sally R; Morris, John C; Goate, Alison M; Kukull, Walter A

2017-01-01

The objective was to determine whether symptomatic and asymptomatic persons with Alzheimer disease (AD) neuropathology have different allele counts for single-nucleotide polymorphisms that have been associated with clinical late-onset AD. Data came from the National Alzheimer's Coordinating Center Uniform Data Set and Neuropathology Data Set, and the Alzheimer's Disease Genetics Consortium (ADGC). Participants had low to high AD neuropathologic change. The 22 known/suspected genes associated with late-onset AD were considered. "Symptomatic" was defined as Clinical Dementia Rating global score >0. Sixty-eight asymptomatic and 521 symptomatic participants met inclusion criteria. Single-nucleotide polymorphisms associated with ABCA7 [odds ratio (OR)=1.66; 95% confidence interval (CI), 1.03-2.85] and MAPT (OR=2.18; CI, 1.26-3.77) were associated with symptomatic status. In stratified analyses, loci containing CD2AP (OR=0.35; 95% CI, 0.16-0.74), ZCWPW1 (OR=2.98; 95% CI, 1.34-6.86), and MAPT (OR=3.73, 95% CI, 1.30-11.76) were associated with symptomatic status in APOE e4 carriers. These findings potentially explain some of the variation in whether a person with AD neuropathology expresses symptoms. Understanding why some people remain cognitively normal despite having AD neuropathology could identify pathways to disease heterogeneity and guide treatment trials.

Bone resorptive activity in symptomatic and asymptomatic apical lesions of endodontic origin.

PubMed

Salinas-Muñoz, M; Garrido-Flores, M; Baeza, M; Huamán-Chipana, P; García-Sesnich, J; Bologna, R; Vernal, R; Hernández, M

2017-11-01

The aim of this study is to assess the levels and diagnostic accuracy of a set of bone resorption biomarkers, including TRAP-5, RANKL, and OPG in symptomatic and asymptomatic apical lesions and controls. Apical tissues from symptomatic and asymptomatic apical periodontitis patients and periodontal ligaments from healthy teeth extracted for orthodontic reasons were processed for tissue homogenization and the levels of TRAP-5, RANKL, and OPG were determined by multiplex assay. Marker levels were analyzed by Kruskal Wallis test, and diagnostic accuracy was analyzed with ROC curves. Higher levels of RANKL, OPG, and RANKL/OPG ratio were determined in both types of apical lesions compared to healthy periodontal ligament, whereas higher TRAP-5 levels were found only in symptomatic apical lesions (p < 0.05). OPG, RANKL, and RANKL/OPG ratio showed diagnostic potential to identify apical lesions versus healthy controls (AUC = 0.69, p < 0.05); while TRAP-5 showed a potential to discriminate symptomatic versus asymptomatic apical periodontitis (AUC = 0.71, p < 0.05) and healthy controls (AUC = 0.83, p < 0.05). Apical lesions showed higher RANKL and OPG levels than healthy tissues. TRAP-5 levels were the highest in symptomatic apical lesions, suggesting that these represent a progressive state, and showed diagnostic potential. Clinically symptomatic apical periodontitis might represent biologically progressive apical lesions based on TRAP5 levels. TRAP5 has diagnostic potential to identify these lesions, representing a candidate prognostic biomarker.

Epidemiological Distribution and Subtype Analysis of Premenstrual Dysphoric Disorder Syndromes and Symptoms Based on TCM Theories

PubMed Central

Wang, Haijun; Zhan, Xianghong; Liu, Hongqi; Wang, Xiaoyun; Li, Xia; Wang, Xiaoru; Wu, Jibiao

2017-01-01

We performed an epidemiological investigation of subjects with premenstrual dysphoric disorder (PMDD) to identify the clinical distribution of the major syndromes and symptoms. The pathogenesis of PMDD mainly involves the dysfunction of liver conveyance and dispersion. Excessive liver conveyance and dispersion are associated with liver-qi invasion syndrome, while insufficient liver conveyance and dispersion are expressed as liver-qi depression syndrome. Additionally, a nonconditional logistic regression was performed to analyze the symptomatic features of liver-qi invasion and liver-qi depression. As a result of this analysis, two subtypes of PMDD are proposed, namely, excessive liver conveyance and dispersion (liver-qi invasion syndrome) and insufficient liver conveyance and dispersion (liver-qi depression syndrome). Our findings provide an epidemiological foundation for the clinical diagnosis and treatment of PMDD based on the identification of different types. PMID:28698873

Early Cellular Changes in the Ascending Aorta and Myocardium in a Swine Model of Metabolic Syndrome.

PubMed

Saraf, Rabya; Huang, Thomas; Mahmood, Feroze; Owais, Khurram; Bardia, Amit; Khabbaz, Kamal R; Liu, David; Senthilnathan, Venkatachalam; Lassaletta, Antonio D; Sellke, Frank; Matyal, Robina

2016-01-01

Metabolic syndrome is associated with pathological remodeling of the heart and adjacent vessels. The early biochemical and cellular changes underlying the vascular damage are not fully understood. In this study, we sought to establish the nature, extent, and initial timeline of cytochemical derangements underlying reduced ventriculo-arterial compliance in a swine model of metabolic syndrome. Yorkshire swine (n = 8 per group) were fed a normal diet (ND) or a high-cholesterol (HCD) for 12 weeks. Myocardial function and blood flow was assessed before harvesting the heart. Immuno-blotting and immuno-histochemical staining were used to assess the cellular changes in the myocardium, ascending aorta and left anterior descending artery (LAD). There was significant increase in body mass index, blood glucose and mean arterial pressures (p = 0.002, p = 0.001 and p = 0.024 respectively) in HCD group. At the cellular level there was significant increase in anti-apoptotic factors p-Akt (p = 0.007 and p = 0.002) and Bcl-xL (p = 0.05 and p = 0.01) in the HCD aorta and myocardium, respectively. Pro-fibrotic markers TGF-β (p = 0.01), pSmad1/5 (p = 0.03) and MMP-9 (p = 0.005) were significantly increased in the HCD aorta. The levels of pro-apoptotic p38MAPK, Apaf-1 and cleaved Caspase3 were significantly increased in aorta of HCD (p = 0.03, p = 0.04 and p = 0.007 respectively). Similar changes in coronary arteries were not observed in either group. Functionally, the high cholesterol diet resulted in significant increase in ventricular end systolic pressure and-dp/dt (p = 0.05 and p = 0.007 respectively) in the HCD group. Preclinical metabolic syndrome initiates pro-apoptosis and pro-fibrosis pathways in the heart and ascending aorta, while sparing coronary arteries at this early stage of dietary modification.

Genetics Home Reference: oculofaciocardiodental syndrome

MedlinePlus

... the signs and symptoms of OFCD syndrome. In males (who have only one X chromosome ), mutations result ... be lethal very early in development, so no males are born with OFCD syndrome. Related Information What ...

Human giardiasis in Serbia: asymptomatic vs symptomatic infection*

PubMed Central

Nikolić, A.; Klun, I.; Bobić, B.; Ivović, V.; Vujanić, M.; Živković, T.; Djurković-Djaković, O.

2011-01-01

Despite the public health importance of giardiasis in all of Europe, reliable data on the incidence and prevalence in Western Balkan Countries (Serbia, Bosnia and Herzegovina, Croatia, Montenegro and FYR Macedonia) are scarce, and the relative contribution of waterborne and food-borne, or person-to-person and/or animalto- person, transmission of human giardiasis is not yet clear. To provide baseline data for the estimation of the public health risk caused by Giardia, we here review the information available on the epidemiological characteristics of asymptomatic and symptomatic human infection in Serbia. Although asymptomatic cases of Giardia represent a major proportion of the total cases of infection, high rates of Giardia infection were found in both asymptomatic and symptomatic populations. No waterborne outbreaks of giardiasis have been reported, and it thus seems that giardiasis mostly occurs sporadically in our milieu. Under such circumstances, control measures to reduce the high prevalence of giardiasis in Serbia have focused on person-to-person transmission, encouraging proper hygiene, but for more targeted intervention measures, studies to identify other risk factors for asymptomatic and symptomatic infections are needed. PMID:21678797

The concept of symptomatic epilepsy and the complexities of assigning cause in epilepsy.

PubMed

Shorvon, Simon

2014-03-01

The concept of symptomatic epilepsy and the difficulties in assigning cause in epilepsy are described. A historical review is given, emphasizing aspects of the history which are relevant today. The historical review is divided into three approximately semicentenial periods (1860-1910, 1910-1960, 1960-present). A definition of symptomatic epilepsy and this is followed by listing of causes of symptomatic epilepsy. The fact that not all the causes of idiopathic epilepsy are genetic is discussed. A category of provoked epilepsy is proposed. The complexities in assigning cause include the following: the multifactorial nature of epilepsy, the distinction between remote and proximate causes, the role of nongenetic factors in idiopathic epilepsy, the role of investigation in determining the range of causes, the fact that not all symptomatic epilepsy is acquired, the nosological position of provoked epilepsy and the view of epilepsy as a process, and the differentiation of new-onset and established epilepsy. The newly proposed ILAE classification of epilepsy and its changes in terminologies and the difficulties in the concept of acute symptomatic epilepsy are discussed, including the inconsistencies and gray areas and the distinction between idiopathic, symptomatic, and provoked epilepsies. Points to be considered in future work are listed. Copyright © 2013 Elsevier Inc. All rights reserved.

What is asthma-COPD overlap syndrome? Towards a consensus definition from a round table discussion.

PubMed

Sin, Don D; Miravitlles, Marc; Mannino, David M; Soriano, Joan B; Price, David; Celli, Bartolome R; Leung, Janice M; Nakano, Yasutaka; Park, Hye Yun; Wark, Peter A; Wechsler, Michael E

2016-09-01

Patients with asthma-chronic obstructive pulmonary disease overlap syndrome (ACOS) have been largely excluded from pivotal therapeutic trials and, as a result, its treatment remains poorly defined and lacking firm evidence. To date, there is no universally accepted definition of ACOS, which has made it difficult to understand its epidemiology or pathophysiology. Despite many uncertainties, there is emerging agreement that some of the key features of ACOS include persistent airflow limitation in symptomatic individuals 40 years of age and older, a well-documented history of asthma in childhood or early adulthood and a significant exposure history to cigarette or biomass smoke. In this perspective, we propose a case definition of ACOS that incorporates these key features in a parsimonious algorithm that may enable clinicians to better diagnose patients with ACOS and most importantly enable researchers to design therapeutic and clinical studies to elucidate its epidemiology and pathophysiology and to ascertain its optimal management strategies. Copyright ©ERS 2016.

Can group B streptococci cause symptomatic vaginitis?

PubMed Central

Honig, E; Mouton, J W; van der Meijden, W I

1999-01-01

BACKGROUND: Maternal cervicovaginal colonization with Lancefield group B streptococci (GBS) is an important risk factor for neonatal morbidity and mortality. About 15% of women are carriers of GBS. Usually, they are asymptomatic. CASES: We describe two patients with symptomatic vaginitis for which no apparent cause was found. Both patients were heavily colonized with GBS. After antibiotic treatment, both became asymptomatic and culture negative, but after recolonization with GBS, symptoms resumed. This phenomenon was repeatedly observed. After emergence of resistance to antibiotics, local application of chlorhexidine appeared to be the only useful treatment. CONCLUSION: We hypothesize that GBS-vaginitis may be a possible disease entity. Although at present it is not clear why some patients become symptomatic, we speculate that the immunologic response is somehow selectively hampered in such patients. PMID:10449271

Tau PET binding distinguishes patients with early-stage posterior cortical atrophy from amnestic Alzheimer disease dementia

PubMed Central

Day, Gregory S.; Gordon, Brian A.; Jackson, Kelley; Christensen, Jon J.; Ponisio, Maria Rosana; Su, Yi; Ances, Beau M; Benzinger, Tammie L.S.; Morris, John C.

2017-01-01

Background Flortaucipir (tau) PET binding distinguishes individuals with clinically well-established posterior cortical atrophy (PCA) due to Alzheimer disease (AD) from cognitively normal (CN) controls. However, it is not known whether tau PET binding patterns differentiate individuals with PCA from those with amnestic AD, particularly early in the symptomatic stages of disease. Methods Flortaucipir and florbetapir (β-amyloid) PET-imaging were performed in individuals with early-stage PCA (N=5), amnestic AD dementia (N=22), and CN controls (N=47). Average tau and β-amyloid deposition were quantified using standard uptake value ratios and compared at a voxel-wise level, controlling for age. Results PCA patients (median age-at-onset, 59 [51–61] years) were younger at symptom-onset than similarly-staged individuals with amnestic AD (75 [60–85] years) or CN controls (73 [61–90] years; p=0.002). Flortaucipir uptake was higher in individuals with early-stage symptomatic PCA versus those with early-stage amnestic AD or CN controls, and greatest in posterior regions. Regional elevations in florbetapir were observed in areas of greatest tau deposition in PCA patients. Conclusions and Relevance Flortaucipir uptake distinguished individuals with PCA and amnestic AD dementia early in the symptomatic course. The posterior brain regions appear to be uniquely vulnerable to tau deposition in PCA, aligning with clinical deficits that define this disease subtype. PMID:28394771

Tau-PET Binding Distinguishes Patients With Early-stage Posterior Cortical Atrophy From Amnestic Alzheimer Disease Dementia.

PubMed

Day, Gregory S; Gordon, Brian A; Jackson, Kelley; Christensen, Jon J; Rosana Ponisio, Maria; Su, Yi; Ances, Beau M; Benzinger, Tammie L S; Morris, John C

2017-01-01

Flortaucipir (tau) positron emission tomography (PET) binding distinguishes individuals with clinically well-established posterior cortical atrophy (PCA) due to Alzheimer disease (AD) from cognitively normal (CN) controls. However, it is not known whether tau-PET binding patterns differentiate individuals with PCA from those with amnestic AD, particularly early in the symptomatic stages of disease. Flortaucipir and florbetapir (β-amyloid) PET imaging were performed in individuals with early-stage PCA (N=5), amnestic AD dementia (N=22), and CN controls (N=47). Average tau and β-amyloid deposition were quantified using standard uptake value ratios and compared at a voxelwise level, controlling for age. PCA patients [median age-at-onset, 59 (51 to 61) years] were younger at symptom onset than similarly staged individuals with amnestic AD [75 (60 to 85) years] or CN controls [73 (61 to 90) years; P=0.002]. Flortaucipir uptake was higher in individuals with early-stage symptomatic PCA versus those with early-stage amnestic AD or CN controls, and greatest in posterior regions. Regional elevations in florbetapir were observed in areas of greatest tau deposition in PCA patients. Flortaucipir uptake distinguished individuals with PCA and amnestic AD dementia early in the symptomatic course. The posterior brain regions appear to be uniquely vulnerable to tau deposition in PCA, aligning with clinical deficits that define this disease subtype.

Prader-Willi Syndrome (PWS): Condition Information

MedlinePlus

... with this disorder. Some can work in sheltered environments. Scientists do not know what increases the risk for Prader-Willi syndrome. The genetic error that leads to Prader-Willi syndrome occurs randomly, usually very early in fetal development. The syndrome is usually not hereditary. 3 Cassidy, S. ...

A population-based cohort study of symptomatic gallstone disease in diabetic patients

PubMed Central

Liu, Chi-Ming; Hsu, Chung-Te; Li, Chung-Yi; Chen, Chu-Chieh; Liu, Meng-Lun; Liu, Jorn-Hon

2012-01-01

AIM: To investigate the prevalence of gallstone disease (GSD) and to evaluate the risk of symptomatic GSD among diabetic patients. METHODS: The study was conducted by analyzing the National Health Research Institutes (NHRI) dataset of ambulatory care patients, inpatient claims, and the updated registry of beneficiaries from 2000 to 2008. A total of 615 532 diabetic patients without a prior history of hospital treatment or ambulatory care visits for symptomatic GSD were identified in the year 2000. Age- and gender-matched control individuals free from both GSD and diabetes from 1997 to 1999 were randomly selected from the NHIR database (n = 614 871). The incidence densities of symptomatic GSD were estimated according to the subjects’ diabetic status. The distributions of age, gender, occupation, income, and residential area urbanization were compared between diabetic patients and control subjects using Cox proportion hazards models. Differences between the rates of selected comorbidities were also assessed in the two groups. RESULTS: Overall, 60 734 diabetic patients and 48 116 control patients developed symptomatic GSD and underwent operations, resulting in cumulative operation rates of 9.87% and 7.83%, respectively. The age and gender distributions of both groups were similar, with a mean age of 60 years and a predominance of females. The diabetic group had a significantly higher prevalence of all comorbidities of interest. A higher incidence of symptomatic GSD was observed in females than in males in both groups. In the control group, females under the age of 64 had a significantly higher incidence of GSD than the corresponding males, but this difference was reduced with increasing age. The cumulative incidences of operations for symptomatic GSD in the diabetic and control groups were 13.06 and 9.52 cases per 1000 person-years, respectively. Diabetic men exhibited a higher incidence of operations for symptomatic GSD than did their counterparts in the

Microfibrillar-associated protein 4 variation in symptomatic peripheral artery disease.

PubMed

Hemstra, Line Ea; Schlosser, Anders; Lindholt, Jes Sanddal; Sorensen, Grith L

2018-06-08

Symptomatic peripheral artery disease (PAD) is an atherosclerotic occlusive disease affecting the lower extremities. The cause of symptomatic PAD is atherosclerosis, vascular dysfunctions, impaired angiogenesis and neointima formation. Microfibrillar-associated protein 4 (MFAP4) is an extracellular matrix protein, which is highly expressed in the heart and arteries and recently introduced as a potential mediator of pathological vascular remodeling and neointima formation. We aimed to investigate the relationship between serum MFAP4 (sMFAP4) and symptomatic PAD outcomes. A total of 286 PAD patients were analyzed if they had either intermittent claudication or critical lower-extremity ischemia (CLI) and followed for 7 years. The level of serum MFAP4 (sMFAP4) was measured by alphaLISA. Kaplan-Meier, Cox proportional hazard and logistic regression analysis were used to analyze the associations between upper tertile sMFAP4 and symptomatic PAD outcomes. Patients with upper tertile sMFAP4 had an odds ratio (OR) of 2.65 (p < 0.001) for having CLI diagnosis. Further analysis indicated that patients with upper tertile sMFAP4 had a hazard ratio (HR) of 1.97 (p = 0.04) for cardiovascular death during the 7-years follow-up. However, analysis of 2-year primary patency showed that patients with upper tertile sMFAP4 had decreased risk of vascular occlusion after reconstructive surgery with HR of 0.15 (p = 0.02). sMFAP4 has potential as a prognostic marker for cardiovascular death, primary patency of reconstructed vessels and CLI diagnosis in symptomatic PAD patients. Confirmation of observations in larger cohorts is warranted.

Early biomarkers of acute kidney failure after heart angiography or heart surgery in patients with acute coronary syndrome or acute heart failure.

PubMed

Torregrosa, Isidro; Montoliu, Carmina; Urios, Amparo; Elmlili, Nisrin; Puchades, María Jesús; Solís, Miguel Angel; Sanjuán, Rafael; Blasco, Maria Luisa; Ramos, Carmen; Tomás, Patricia; Ribes, José; Carratalá, Arturo; Juan, Isabel; Miguel, Alfonso

2012-01-01

Acute kidney injury (AKI) is a common complication in cardiac surgery and coronary angiography, which worsens patients' prognosis. The diagnosis is based on the increase in serum creatinine, which is delayed. It is necessary to identify and validate new biomarkers that allow for early and effective interventions. To assess the sensitivity and specificity of neutrophil gelatinase-associated lipocalin in urine (uNGAL), interleukin-18 (IL-18) in urine and cystatin C in serum for the early detection of AKI in patients with acute coronary syndrome or heart failure, and who underwent cardiac surgery or catheterization. The study included 135 patients admitted to the intensive care unit for acute coronary syndrome or heart failure due to coronary or valvular pathology and who underwent coronary angiography or cardiac bypass surgery or valvular replacement. The biomarkers were determined 12 hours after surgery and serum creatinine was monitored during the next six days for the diagnosis of AKI. The area under the ROC curve (AUC) for NGAL was 0.983, and for cystatin C and IL-18 the AUCs were 0.869 and 0.727, respectively. At a cut-off of 31.9 ng/ml for uNGAL the sensitivity was 100% and the specificity was 91%. uNGAL is an early marker of AKI in patients with acute coronary syndrome or heart failure and undergoing cardiac surgery and coronary angiography, with a higher predictive value than cystatin C or IL-18.

Odontogenic Keratocysts in Gorlin-Goltz Syndrome: A Case Report.

PubMed

Chandran, Satheesh; Marudhamuthu, Karthikeyan; Riaz, R; Balasubramaniam, Saravanan

2015-01-01

Gorlin-Goltz syndrome is an autosomal dominant inherited condition comprising the principle triad of basal cell carcinomas, multiple jaw keratocysts, and skeletal anomalies. The presence of jaw cysts are the early diagnostic feature of this syndrome, and this can be incidentally identified by routine radiographs. A patient presented with signs and symptoms of Gorlin-Goltz syndrome to us in her early stages.

Unimpaired endogenous pain inhibition in the early phase of complex regional pain syndrome.

PubMed

Kumowski, N; Hegelmaier, T; Kolbenschlag, J; Maier, C; Mainka, T; Vollert, J; Enax-Krumova, E

2017-05-01

The complex regional pain syndrome (CRPS) is characterized by distal generalisation of pain beyond the initial trauma. This might be the result of impaired endogenous pain inhibition. We compared Conditioned Pain Modulation (CPM) between patients with CRPS (n = 24; pain: 4.5 ± 2.2, NRS 0-10; disease duration <1 year), neuralgia (n = 17; pain: 5.5 ± 1.1) and healthy subjects (n = 23) and its correlation with loss and gain of function as assessed by Quantitative Sensory Testing (QST). CPM was assessed with heat as test stimulus (TS) and cold water as conditioning stimulus (CS). The early CPM-effect was calculated as difference between heat pain during and before conditioning, the late CPM-effect, 5 minutes after and before conditioning, respectively. Heat pain decreased comparably after CS in all groups, resulting in a significant CPM-effect (healthy: -12.5 ± 12.4, NRS 0-100; CRPS: -14.7 ± 15.7; neuralgia: -7.9 ± 9.8; p < 0.001). When compared to healthy subjects, heat pain declined significantly steeper in CRPS patients (healthy: -2.0 ± 5.5, NRS 0-100/10 s; CRPS: -6.3 ± 8.1; p < 0.05). Only CRPS patients demonstrated a late CPM effect (-6.0 ± 9.0, p < 0.005). Neither spontaneous pain nor any QST parameter correlated with CPM, with the exception of a decreased cold pain threshold, which correlated with an enhanced CPM in CRPS patients only (r = -0.456, p < 0.05). An impairment of endogenous pain inhibition does not explain the extent of pain in the early stage of CRPS or in neuralgia. The unexpectedly high CPM in CRPS patients might result from activation of the intact descending pathways in response to central sensitization, as cold hyperalgesia correlated with the CPM-effect. Conditioned pain modulation (CPM) is not impaired in the early phase of complex regional pain syndrome (CRPS) and neuralgia. Only in CRPS higher CPM was associated with lower cold pain thresholds. © 2017 European Pain Federation - EFIC®.

Symptomatic Raccoon Dogs and Sarcoptic Mange Along an Urban Gradient.

PubMed

Saito, Masayuki U; Sonoda, Yoichi

2017-06-01

We quantitatively evaluated the effects of landscape factors on the distribution of symptomatic raccoon dogs with sarcoptic mange along an urban gradient. We used 246 camera traps (182 traps from April 2005 to December 2006; 64 traps from September 2009 to October 2010) to record the occurrence of asymptomatic and symptomatic raccoon dogs at 21 survey sites along an urban-rural gradient in the Tama Hills area of Tokyo. Each occurrence was explained in terms of the surrounding forest, agricultural, and grassland areas and additional factors (i.e., seasonal variations and survey methods) at various spatial scales using a generalized additive mixed model (GAMM). In our analysis, a 1000-m radius was identified as the important spatial scale for asymptomatic and symptomatic raccoon dog occurrence. The peak of the predicted occurrence probability of asymptomatic raccoon dogs appeared in the intermediate forest landscape as opposed to non-forest and forest landscapes. However, a high occurrence probability of symptomatic raccoon dogs was detected in non-forest and intermediate forest landscapes (i.e., urban and suburban) as opposed to a forest landscape, presumably because of animals occurring at much higher densities in more urbanized areas. Therefore, our results suggest that human-modified landscapes play an important role in the high occurrence of sarcoptic mange in raccoon dogs.

Executive functioning during full and partial remission (positive and negative symptomatic remission) of schizophrenia.

PubMed

Braw, Yoram; Benozio, Avi; Levkovitz, Yechiel

2012-12-01

Despite the upsurge of research regarding cognitive impairment in schizophrenia we still lack adequate understanding of the executive functioning of patients in symptomatic remission. Moreover, the cognitive functioning of patients in partial remission has not been studied previously although they comprise a significant proportion of schizophrenia patients. The current study therefore examined the executive functioning of patients in full symptomatic remission and for the first time assessed two sub-groups of patients in partial remission. Executive functioning of five groups was compared; symptomatic patients, patients in positive symptomatic remission, negative symptomatic remission, full symptomatic remission (SP, PSR, NSR, and FSR; N=101) and healthy controls (N=37). A graded cognitive profile was evident between the groups. SP patients exhibited widespread executive dysfunction while the performance of FSR patients was comparable to that of the healthy controls. Both PSR and NSR patients had working memory deficits, with PSR patients showing additional deficits in cognitive planning. The findings are encouraging, tentatively suggesting intact executive functioning among patients in full symptomatic remission. The graded cognitive profile of the patient groups strengthens earlier findings indicating the significant role of negative symptoms in determining executive dysfunction in schizophrenia. The findings point toward potential targets for therapeutic efforts and emphasize the need for further research of sub-groups of schizophrenia patients in partial remission. Copyright © 2012 Elsevier B.V. All rights reserved.

Early Differentiation of Kawasaki Disease Shock Syndrome and Toxic Shock Syndrome in a Pediatric Intensive Care Unit.

PubMed

Lin, Ying-Jui; Cheng, Ming-Chou; Lo, Mao-Hung; Chien, Shao-Ju

2015-11-01

Kawasaki disease shock syndrome (KDSS) and toxic shock syndrome (TSS) can present as shock and fever with skin rash, but the management of these 2 groups of patients is different. This report proposes to help clinicians earlier distinguish these 2 diseases and expedite institution of appropriate therapy. We retrospectively reviewed the medical records of patients admitted to the pediatric intensive care unit with the diagnosis of KDSS or TSS from January 2000 through December 2010. Clinical, laboratory and echocardiographic data were collected for analysis of differences between them. Seventeen patients met the inclusion criteria of KDSS and 16 had a confirmed diagnosis of TSS. The mean age of the KDSS group was significantly younger than that of the TSS group (36.8 ± 41.1 vs. 113.3 ± 55.6 months, P < 0.001). Significantly lower hemoglobulin and age-adjusted hemoglobulin concentrations were noted in the KDSS group [Hb, age-adjusted Z score, -1.88 (range, -3.9 to 3.9) vs. 0.89 (range, -6.4 to 10.8), P = 0.006]. The median platelet count of the KDSS group was nearly twice that of the TSS group [312 × 10³ per μL (range, 116-518) vs. 184.5 × 10³ per μL (range: 31-629), P = 0.021]. Echocardiographic abnormalities, such as valvulitis (mitral or tricuspid regurgitation) and coronary artery lesions, were significantly more common in the KDSS group (P = 0.022). Echocardiography, anemia and thrombocytosis are useful early differentiating features between KDSS and TSS patients.

[Use of magnetic therapy for treatment of early symptoms of vascular-type vibration syndrome in forestry workers].

PubMed

Karczewska, M

1996-01-01

The objective of the study was to evaluate the efficacy of the use of magnetic fields (ELF-MF) of therapeutic parameters in the treatment of early symptoms of vascular-type vibration syndrome in forestry workers. The study covered 96 forestry workers, and the control group was composed of 29 sawyers who underwent a simulated treatment. Each worker was granted sick leave and applied 20 procedures by employing an Aplhatron 4100 device under the ambulatory conditions. The outcome of the treatment was evaluated directly after the last procedure and 3 months later. A diversified positive influence on individual subjective and objective pathological changes in regard to both direct and late effects was observed. The abatement of subjective disorders right after termination of the treatment was observed in 67.7% and objective disorders in 57.3%. A long-term improvement (after 3 months) was found in a smaller proportion of persons as the abatement of subjective disorders was reported by 59.3% while objective disorders persisted in 43.7%. The results obtained prove that the application of variable magnetic fields (ELF-MF) of therapeutic parameters is useful in the prophylaxis and treatment of pathological changes during the period of prodromal symptoms and early pathological changes in vascular-type vibration syndrome induced by local magnetic vibrations.

MELAS syndrome: Clinical manifestations, pathogenesis, and treatment options.

PubMed

El-Hattab, Ayman W; Adesina, Adekunle M; Jones, Jeremy; Scaglia, Fernando

2015-01-01

Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome is one of the most frequent maternally inherited mitochondrial disorders. MELAS syndrome is a multi-organ disease with broad manifestations including stroke-like episodes, dementia, epilepsy, lactic acidemia, myopathy, recurrent headaches, hearing impairment, diabetes, and short stature. The most common mutation associated with MELAS syndrome is the m.3243A>G mutation in the MT-TL1 gene encoding the mitochondrial tRNA(Leu(UUR)). The m.3243A>G mutation results in impaired mitochondrial translation and protein synthesis including the mitochondrial electron transport chain complex subunits leading to impaired mitochondrial energy production. The inability of dysfunctional mitochondria to generate sufficient energy to meet the needs of various organs results in the multi-organ dysfunction observed in MELAS syndrome. Energy deficiency can also stimulate mitochondrial proliferation in the smooth muscle and endothelial cells of small blood vessels leading to angiopathy and impaired blood perfusion in the microvasculature of several organs. These events will contribute to the complications observed in MELAS syndrome particularly the stroke-like episodes. In addition, nitric oxide deficiency occurs in MELAS syndrome and can contribute to its complications. There is no specific consensus approach for treating MELAS syndrome. Management is largely symptomatic and should involve a multidisciplinary team. Unblinded studies showed that l-arginine therapy improves stroke-like episode symptoms and decreases the frequency and severity of these episodes. Additionally, carnitine and coenzyme Q10 are commonly used in MELAS syndrome without proven efficacy. Copyright © 2015 Elsevier Inc. All rights reserved.

[Poland's syndrome].

PubMed

Slezak, R; Sasiadek, M

2000-08-01

Poland's syndrome consists of the variable clinical features, but always includes unilateral aplasia of the chest wall muscles and ipsilateral anomalies of upper extremity. The incidence of Poland's syndrome, reported by different authors ranges from 1:10,000 to 1:100,000 and is observed more frequently in males than in females with the right side of the body affected more often than the left. The etiology of this syndrome is still discussed. However most of described cases were sporadic, rare familial incidence of Poland's syndrome were also presented. Therefore different etiologic factors of the Poland's syndrome are taken into account: genetic, vascular compromise during early stages of embriogenesis but also teratogenic effect of environmental xenobiotics (e.g. cigarette smoking by pregnant women). The authors present also the case of 20-years old man with inherited bilateral syndactyly with the right side aplasia of major pectoralis muscle and face asymmetry. The familial history was negative in respect to the features, associated with Poland's syndrome.

Transurethral holmium-YAG laser lithotripsy for large symptomatic prostatic calculi: initial experience.

PubMed

Goyal, Neeraj Kumar; Goel, Apul; Sankhwar, Satyanarayan

2013-08-01

Symptomatic prostatic calculi are a rare clinical entity with wide range of management options, however, there is no agreement about the preferred method for treating these symptomatic calculi. In this study we describe our experience of transurethral management of symptomatic prostatic calculi using holmium-YAG laser lithotripsy. Patients with large, symptomatic prostatic stones managed by transurethral lithotripsy using holmium-YAG laser over 3-year duration were included in this retrospective study. Patients were evaluated for any underlying pathological condition and calculus load was determined by preoperative X-ray KUB film/CT scan. Urethrocystoscopy was performed using 30° cystoscope in lithotomy position under spinal anesthesia, followed by transurethral lithotripsy of prostatic calculi using a 550 μm laser fiber. Stone fragments were disintegrated using 100 W laser generators (VersaPulse PowerSuite 100 W, LUMENIS Surgical, CA). Larger stone fragments were retreived using Ellik's evacuator while smaller fragments got flushed under continuous irrigation. Five patients (median age 42 years) with large symptomatic prostatic calculi were operated using the described technique. Three patients had idiopathic stones while rest two had bulbar urethral stricture and neurogenic bladder, respectively. Median operative time was 62 min. All the patients were stone free at the end of procedure. Median duration of catheterization was 2 days. Significant improvement was observed in symptoms score and peak urinary flow and none of the patient had any complication. Transurethral management using holmium-YAG laser lithotripsy is a safe and highly effective, minimally invasive technique for managing symptomatic prostatic calculi of all sizes with no associated morbidity.

Symptomatic pulmonary embolism among stroke patients in Taiwan: a retrospective cohort study.

PubMed

Chen, Chih-Chi; Lee, Tsong-Hai; Chung, Chia-Ying; Chang, Wei-Han; Hong, Jia-Pei; Huang, Li-Ting; Tang, Simon F T; Chen, Chih-Kuang

2012-01-01

Stroke patients are at particular risk for developing pulmonary embolism (PE), which is a cardiovascular emergency associated with a high mortality rate. Little information is available on symptomatic PE in Asian stroke patients. To determine the frequency of symptomatic PE in ischemic and hemorrhagic stroke patients; to identify common characteristics and risk factors of symptomatic PE in Taiwanese stroke patients; and to compare the difference between fatal PE and nonfatal PE among these stroke patients. This is a retrospective cohort study of stroke patients admitted between January 2002 and December 2009 to a tertiary referral center in Northern Taiwan. We used the International Classification of Diseases, Ninth Revision, Clinical Modification codes to identify eligible patients. We determined annual frequency and risk factors of symptomatic PE. We also compared the difference between ischemic stroke patients with fatal and nonfatal PE. Among the admitted stroke patients, 21,129 (78.87%) had ischemic strokes and 5,662 (21.13 %) had hemorrhagic strokes. There were 14 (0.066%) ischemic and 1 hemorrhagic stroke (0.018%) patients included in this study. Of the recruited stroke patients, 64.29% had past heart disease history, especially atrial fibrillation (42.86%). Patients with fatal PE showed a significantly lower poststroke Glasgow Coma Scale (GCS) motor component than patients with nonfatal PE. Symptomatic PE is not common in stroke patients in Taiwan. Clinicians need to keep this fatal disease in mind, especially for persons with heart disease like atrial fibrillation. Stroke patients with impaired poststroke GCS motor components seemed to have a greater mortality risk if they have symptomatic PE.

The effect of congruence in patient and therapist alliance on patient's symptomatic levels.

PubMed

Zilcha-Mano, Sigal; Snyder, John; Silberschatz, George

2017-05-01

The ability of alliance to predict outcome has been widely demonstrated, but less is known about the effect of the level of congruence between patient and therapist alliance ratings on outcome. In the current study we examined whether the degree of congruence between patient and therapist alliance ratings can predict symptomatic levels 1 month later in treatment. The sample consisted of 127 patient-therapist dyads. Patients and therapists reported on their alliance levels, and patients reported their symptomatic levels 1 month later. Polynomial regression and response surface analysis were used to examine congruence. Findings suggest that when the congruence level of patient and therapist alliance ratings was not taken into account, only the therapist's alliance served as a significant predictor of symptomatic levels. But when the degree of congruence between patient and therapist alliance ratings was considered, the degree of congruence was a significant predictor of symptomatic levels 1 month later in treatment. Findings support the importance of the level of congruence between patient and therapist alliance ratings in predicting patient's symptomatic levels.

Genetics of Severe Early Onset Epilepsies

ClinicalTrials.gov

2017-08-24

Epilepsy; Epileptic Encephalopathy; Ohtahara Syndrome; Infantile Spasms; Dravet Syndrome; Malignant Migrating Partial Epilepsy of Infancy; Early Myoclonic Epileptic Encephalopathy; PCDH19-related Epilepsy and Related Conditions

Enhanced caspase activity contributes to aortic wall remodeling and early aneurysm development in a murine model of Marfan syndrome.

PubMed

Emrich, Fabian C; Okamura, Homare; Dalal, Alex R; Penov, Kiril; Merk, Denis R; Raaz, Uwe; Hennigs, Jan K; Chin, Jocelyn T; Miller, Miquell O; Pedroza, Albert J; Craig, Juliana K; Koyano, Tiffany K; Blankenberg, Francis G; Connolly, Andrew J; Mohr, Friedrich W; Alvira, Cristina M; Rabinovitch, Marlene; Fischbein, Michael P

2015-01-01

Rupture and dissection of aortic root aneurysms remain the leading causes of death in patients with the Marfan syndrome, a hereditary connective tissue disorder that affects 1 in 5000 individuals worldwide. In the present study, we use a Marfan mouse model (Fbn1(C1039G/+)) to investigate the biological importance of apoptosis during aneurysm development in Marfan syndrome. Using in vivo single-photon emission computed tomographic-imaging and ex vivo autoradiography for Tc99m-annexin, we discovered increased apoptosis in the Fbn1(C1039G/+) ascending aorta during early aneurysm development peaking at 4 weeks. Immunofluorescence colocalization studies identified smooth muscle cells (SMCs) as the apoptotic cell population. As biological proof of concept that early aortic wall apoptosis plays a role in aneurysm development in Marfan syndrome, Fbn1(C1039G/+) mice were treated daily from 2 to 6 weeks with either (1) a pan-caspase inhibitor, Q-VD-OPh (20 mg/kg), or (2) vehicle control intraperitoneally. Q-VD-OPh treatment led to a significant reduction in aneurysm size and decreased extracellular matrix degradation in the aortic wall compared with control mice. In vitro studies using Fbn1(C1039G/+) ascending SMCs showed that apoptotic SMCs have increased elastolytic potential compared with viable cells, mostly because of caspase activity. Moreover, in vitro (1) cell membrane isolation, (2) immunofluorescence staining, and (3) scanning electron microscopy studies illustrate that caspases are expressed on the exterior cell surface of apoptotic SMCs. Caspase inhibition attenuates aneurysm development in an Fbn1(C1039G/+) Marfan mouse model. Mechanistically, during apoptosis, caspases are expressed on the cell surface of SMCs and likely contribute to elastin degradation and aneurysm development in Marfan syndrome. © 2014 American Heart Association, Inc.

Genetic variants in the cell cycle control pathways contribute to early onset colorectal cancer in Lynch syndrome.

PubMed

Chen, Jinyun; Etzel, Carol J; Amos, Christopher I; Zhang, Qing; Viscofsky, Nancy; Lindor, Noralane M; Lynch, Patrick M; Frazier, Marsha L

2009-11-01

Lynch syndrome is an autosomal dominant syndrome of familial malignancies resulting from germ line mutations in DNA mismatch repair (MMR) genes. Our goal was to take a pathway-based approach to investigate the influence of polymorphisms in cell cycle-related genes on age of onset for Lynch syndrome using a tree model. We evaluated polymorphisms in a panel of cell cycle-related genes (AURKA, CDKN2A, TP53, E2F2, CCND1, TP73, MDM2, IGF1, and CDKN2B) in 220 MMR gene mutation carriers from 129 families. We applied a novel statistical approach, tree modeling (Classification and Regression Tree), to the analysis of data on patients with Lynch syndrome to identify individuals with a higher probability of developing colorectal cancer at an early age and explore the gene-gene interactions between polymorphisms in cell cycle genes. We found that the subgroup with CDKN2A C580T wild-type genotype, IGF1 CA-repeats >or=19, E2F2 variant genotype, AURKA wild-type genotype, and CCND1 variant genotype had the youngest age of onset, with a 45-year median onset age, while the subgroup with CDKN2A C580T wild-type genotype, IGF1 CA-repeats >or=19, E2F2 wild-type genotype, and AURKA variant genotype had the latest median age of onset, which was 70 years. Furthermore, we found evidence of a possible gene-gene interaction between E2F2 and AURKA genes related to CRC age of onset. Polymorphisms in these cell cycle-related genes work together to modify the age at the onset of CRC in patients with Lynch syndrome. These studies provide an important part of the foundation for development of a model for stratifying age of onset risk among those with Lynch syndrome.

Tetralogy of Fallot with absent pulmonary valve syndrome; appropriate surgical strategies.

PubMed

Shahid, Fatima; Siddiqui, Maria Tariq; Amanullah, Muhammad Muneer

2015-05-01

To evaluate patients presenting with Tetralogy of Fallot with absent pulmonary valve syndrome to a tertiary care hospital and their surgical management. The retrospective study was conducted at Congenital Cardiac Services, Aga Khan University Hospital, Karachi, Pakistan, and comprised data of Tetralogy of Fallot patients between April 2007 and June 2012. Data was analysed together with follow-up echocardiography. Variables assessed included demographics, imaging, operative technique, complications, post-operative recovery and follow-up echocardiography. SPSS 17 was used for statistical analysis. Of the 204 patients, 6 (3%) had undergone surgical correction for Tetralogy of Fallot with absent pulmonary valve syndrome. All 6(100%) patients underwent complete repair. Median age for surgery was 8.5 years (range: 0.5-29 years). Of the different surgical strategies used, Contegra and Bioprosthetic valve placement had satisfactory outcome with minimal gradient at Right Ventricular Outflow Tract, good ventricular function and mild valvular regurgitation. One (16.6%) patient with Trans Annular Patch developed post-operative Right Ventricle Outflow Tract gradient of 80mmHg with moderate pulmonary regurgitation. One (16.6%) patient with monocusp valve developed free pulmonary regurgitation at 6 months. The other 4(66.6%) patients are currently free from any complications or re-intervention. Early surgery is preferred in symptomatic patients. The repair depends upon achieving integrity of pulmonary circulation which is best achieved by using right ventricle to pulmonary artery conduit or inserting a pulmonary valve.

THE CLINICAL, FUNCTIONAL AND BIOMECHANICAL PRESENTATION OF PATIENTS WITH SYMPTOMATIC HIP ABDUCTOR TENDON TEARS.

PubMed

Ebert, Jay R; Retheesh, Theertha; Mutreja, Rinky; Janes, Gregory C

2016-10-01

Hip abductor tendon (HAT) tearing is commonly implicated in greater trochanteric pain syndrome (GTPS), though limited information exists on the disability associated with this condition and specific presentation of these patients. To describe the clinical, functional and biomechanical presentation of patients with symptomatic HAT tears. Secondary purposes were to investigate the association between these clinical and functional measures, and to compare the pain and disability reported by HAT tear patients to those with end-stage hip osteoarthritis (OA). Prospective case series. One hundred forty-nine consecutive patients with symptomatic HAT tears were evaluated using the Harris (HHS) and Oxford (OHS) Hip Scores, SF-12, an additional series of 10 questions more pertinent to those with lateral hip pain, active hip range of motion (ROM), maximal isometric hip abduction strength, six-minute walk capacity and 30-second single limb stance (SLS) test. The presence of a Trendelenburg sign and pelvis-on-femur (POF) angle were determined via 2D video analysis. An age matched comparative sample of patients with end-stage hip OA was recruited for comparison of all patient-reported outcome scores. Independent t-tests investigated group and limb differences, while analysis of variance evaluated pain changes during the functional tests. Pearson's correlation coefficients investigated the correlation between clinical measures in the HAT tear group. No differences existed in patient demographics and patient-reported outcome scores between HAT tear and hip OA cohorts, apart from significantly worse SF-12 mental subscale scores (p = 0.032) in the HAT tear group. Patients with HAT tears demonstrated significantly lower (p < 0.05) hip abduction strength and active ROM in all planes of motion on their affected limb. Pain significantly increased throughout the 30-second SLS test for the HAT tear group, with 57% of HAT tear patients demonstrating a positive Trendelenburg sign

THE CLINICAL, FUNCTIONAL AND BIOMECHANICAL PRESENTATION OF PATIENTS WITH SYMPTOMATIC HIP ABDUCTOR TENDON TEARS

PubMed Central

Retheesh, Theertha; Mutreja, Rinky; Janes, Gregory C.

2016-01-01

Background Hip abductor tendon (HAT) tearing is commonly implicated in greater trochanteric pain syndrome (GTPS), though limited information exists on the disability associated with this condition and specific presentation of these patients. Purpose To describe the clinical, functional and biomechanical presentation of patients with symptomatic HAT tears. Secondary purposes were to investigate the association between these clinical and functional measures, and to compare the pain and disability reported by HAT tear patients to those with end-stage hip osteoarthritis (OA). Study Design Prospective case series. Methods One hundred forty-nine consecutive patients with symptomatic HAT tears were evaluated using the Harris (HHS) and Oxford (OHS) Hip Scores, SF-12, an additional series of 10 questions more pertinent to those with lateral hip pain, active hip range of motion (ROM), maximal isometric hip abduction strength, six-minute walk capacity and 30-second single limb stance (SLS) test. The presence of a Trendelenburg sign and pelvis-on-femur (POF) angle were determined via 2D video analysis. An age matched comparative sample of patients with end-stage hip OA was recruited for comparison of all patient-reported outcome scores. Independent t-tests investigated group and limb differences, while analysis of variance evaluated pain changes during the functional tests. Pearson's correlation coefficients investigated the correlation between clinical measures in the HAT tear group. Results No differences existed in patient demographics and patient-reported outcome scores between HAT tear and hip OA cohorts, apart from significantly worse SF-12 mental subscale scores (p = 0.032) in the HAT tear group. Patients with HAT tears demonstrated significantly lower (p < 0.05) hip abduction strength and active ROM in all planes of motion on their affected limb. Pain significantly increased throughout the 30-second SLS test for the HAT tear group, with 57% of HAT tear patients

Common iliac vein stenosis and risk of symptomatic pulmonary embolism: an inverse correlation.

PubMed

Chan, Keith T; Popat, Rita A; Sze, Daniel Y; Kuo, William T; Kothary, Nishita; Louie, John D; Hovsepian, David M; Hwang, Gloria L; Hofmann, Lawrence V

2011-02-01

To test the hypothesis that a common iliac vein (CIV) stenosis may impair embolization of a large deep venous thrombosis (DVT) to the lungs, decreasing the incidence of a symptomatic pulmonary embolism (PE). Between January 2002 and August 2007, 75 patients diagnosed with unilateral DVT were included in a single-institution case-control study. Minimum CIV diameters were measured 1 cm below the inferior vena cava (IVC) bifurcation on computed tomography (CT) images. A significant stenosis in the CIV ipsilateral to the DVT was defined as having either a diameter 4 mm or less or a greater than 70% reduction in lumen diameter. A symptomatic PE was defined as having symptoms and imaging findings consistent with a PE. The odds of symptomatic PE versus CIV stenosis were assessed using logistic regression models. The associations between thrombus location, stenosis, and symptomatic PE were assessed using a stratified analysis. Of 75 subjects, 49 (65%) presented with symptomatic PE. There were 17 (23%) subjects with a venous lumen 4 mm or less and 12 (16%) subjects with a greater than 70% stenosis. CIV stenosis of 4 mm or less resulted in a decreased odds of a symptomatic PE compared with a lumen greater than 4 mm (odds ratio [OR] 0.17, P = .011), whereas a greater than 70% stenosis increased the odds of DVT involving the CIV (OR 7.1, P = .047). Among patients with unilateral DVT, those with an ipsilateral CIV lumen of 4 mm or less have an 83% lower risk of developing symptomatic PE compared with patients with a CIV lumen greater than 4 mm. Copyright © 2011 SIR. Published by Elsevier Inc. All rights reserved.

Early Invasive Versus Selective Strategy for Non-ST-Segment Elevation Acute Coronary Syndrome: The ICTUS Trial.

PubMed

Hoedemaker, Niels P G; Damman, Peter; Woudstra, Pier; Hirsch, Alexander; Windhausen, Fons; Tijssen, Jan G P; de Winter, Robbert J

2017-04-18

The ICTUS (Invasive Versus Conservative Treatment in Unstable Coronary Syndromes) trial compared early invasive strategy with a selective invasive strategy in patients with non-ST-segment elevation acute coronary syndrome (NSTE-ACS) and an elevated cardiac troponin T. No long-term benefit of an early invasive strategy was found at 1 and 5 years. The aim of this study was to determine the 10-year clinical outcomes of an early invasive strategy versus a selective invasive strategy in patients with NSTE-ACS and an elevated cardiac troponin T. The ICTUS trial was a multicenter, randomized controlled clinical trial that included 1,200 patients with NSTE-ACS and an elevated cardiac troponin T. Enrollment was from July 2001 to August 2003. We collected 10-year follow-up of death, myocardial infarction (MI), and revascularization through the Dutch population registry, patient phone calls, general practitioners, and hospital records. The primary outcome was the 10-year composite of death or spontaneous MI. Additional outcomes included the composite of death or MI, death, MI (spontaneous and procedure-related), and revascularization. Ten-year death or spontaneous MI was not statistically different between the 2 groups (33.8% vs. 29.0%, hazard ratio [HR]: 1.12; 95% confidence interval [CI]: 0.97 to 1.46; p = 0.11). Revascularization occurred in 82.6% of the early invasive group and 60.5% in the selective invasive group. There were no differences in additional outcomes, except for a higher rate of death or MI in the early invasive group compared with the rates for the selective invasive group (37.6% vs. 30.5%; HR: 1.30; 95% CI: 1.07 to 1.58; p = 0.009), driven by a higher rate of procedure-related MI in the early invasive group (6.5% vs. 2.4%; HR: 2.82; 95% CI: 1.53 to 5.20; p = 0.001). In patients with NSTE-ACS and elevated cardiac troponin T levels, an early invasive strategy has no benefit over a selective invasive strategy in reducing the 10-year composite outcome of

Down Syndrome. NICHCY Disability Fact Sheet #4

ERIC Educational Resources Information Center

National Dissemination Center for Children with Disabilities, 2010

2010-01-01

When a baby is born with Down syndrome, his or her parents should know that there's a lot of help available--and immediately. Shortly after the diagnosis of Down syndrome is confirmed, parents will want to get in touch with the early intervention system in their community. Early intervention is a system of services designed to help infants and…

Phenotypic characteristics of early Wolfram syndrome

PubMed Central

2013-01-01

Background Wolfram Syndrome (WFS:OMIM 222300) is an autosomal recessive, progressive, neurologic and endocrinologic degenerative disorder caused by mutations in the WFS1 gene, encoding the endoplasmic reticulum (ER) protein wolframin, thought to be involved in the regulation of ER stress. This paper reports a cross section of data from the Washington University WFS Research Clinic, a longitudinal study to collect detailed phenotypic data on a group of young subjects in preparation for studies of therapeutic interventions. Methods Eighteen subjects (ages 5.9–25.8, mean 14.2 years) with genetically confirmed WFS were identified through the Washington University International Wolfram Registry. Examinations included: general medical, neurologic, ophthalmologic, audiologic, vestibular, and urologic exams, cognitive testing and neuroimaging. Results Seventeen (94%) had diabetes mellitus with the average age of diabetes onset of 6.3 ± 3.5 years. Diabetes insipidus was diagnosed in 13 (72%) at an average age of 10.6 ± 3.3 years. Seventeen (94%) had optic disc pallor and defects in color vision, 14 (78%) had hearing loss and 13 (72%) had olfactory defects, eight (44%) had impaired vibration sensation. Enuresis was reported by four (22%) and nocturia by three (17%). Of the 11 tested for bladder emptying, five (45%) had elevated post-void residual bladder volume. Conclusions WFS causes multiple endocrine and neurologic deficits detectable on exam, even early in the course of the disease. Defects in olfaction have been underappreciated. The proposed mechanism of these deficits in WFS is ER stress-induced damage to neuronal and hormone-producing cells. This group of subjects with detailed clinical phenotyping provides a pool for testing proposed treatments for ER stress. Longitudinal follow-up is necessary for establishing the natural history and identifying potential biomarkers of progression. PMID:23981289

Odontogenic Keratocysts in Gorlin–Goltz Syndrome: A Case Report

PubMed Central

Chandran, Satheesh; Marudhamuthu, Karthikeyan; Riaz, R; Balasubramaniam, Saravanan

2015-01-01

Gorlin–Goltz syndrome is an autosomal dominant inherited condition comprising the principle triad of basal cell carcinomas, multiple jaw keratocysts, and skeletal anomalies. The presence of jaw cysts are the early diagnostic feature of this syndrome, and this can be incidentally identified by routine radiographs. A patient presented with signs and symptoms of Gorlin–Goltz syndrome to us in her early stages. PMID:26225111

Early miscarriage rate in lean polycystic ovary syndrome women after euploid embryo transfer - a matched-pair study.

PubMed

Luo, Lu; Gu, Fang; Jie, Huying; Ding, Chenhui; Zhao, Qiang; Wang, Qiong; Zhou, Canquan

2017-11-01

The early miscarriage rate is reported to be higher in patients with polycystic ovary syndrome (PCOS) compared with non-PCOS patients. However, whether PCOS is an independent risk factor for early miscarriage is still controversial; to what extent embryonic aneuploidy accounts for miscarriages of PCOS is still unknown. In this 1:3 matched-pair study, 67 lean PCOS patients and 201 controls matched for age, body mass index (BMI) and embryo scores undergoing a single euploid blastocyst transfer in vitrified-warmed cycles were analysed. Clinical pregnancy, early miscarriage and live birth rates were compared. Logistic regression analysis was performed to further evaluate the factors associated with early miscarriage and live birth. Clinical pregnancy rates were 50.7% in PCOS and 55.2% in control groups. Early miscarriage rate was significantly (P = 0.029) increased in the PCOS group compared with controls; non-PCOS patients had a significantly higher live birth rate than PCOS patients, P < 0.001. Further regression analyses showed that PCOS was significantly associated with a higher risk of early miscarriage and decreased chance of live birth. In conclusion, PCOS in women undergoing pre-implantation genetic diagnosis may, independently from BMI and karyotype, increase the risk of miscarriage. Copyright © 2017 Reproductive Healthcare Ltd. Published by Elsevier Ltd. All rights reserved.

Symptomatic Acute Toxoplasmosis in Returning Travelers

PubMed Central

Henao-Martínez, Andrés F; Franco-Paredes, Carlos; Palestine, Alan G; Montoya, Jose G

2018-01-01

Abstract We report a family who acquired acute toxoplasmosis after a trip to Central America. One member developed severe clinical manifestations including bilateral chorioretinitis, hepatitis, and myocarditis requiring therapy. Symptomatic acute toxoplasmosis is unusual and possesses a diagnostic challenge. We discuss the clinical and epidemiological implications, laboratory diagnosis, and treatment plan. PMID:29644250

Analytical validation of a novel multiplex test for detection of advanced adenoma and colorectal cancer in symptomatic patients.

PubMed

Dillon, Roslyn; Croner, Lisa J; Bucci, John; Kairs, Stefanie N; You, Jia; Beasley, Sharon; Blimline, Mark; Carino, Rochele B; Chan, Vicky C; Cuevas, Danissa; Diggs, Jeff; Jennings, Megan; Levy, Jacob; Mina, Ginger; Yee, Alvin; Wilcox, Bruce

2018-05-30

Early detection of colorectal cancer (CRC) is key to reducing associated mortality. Despite the importance of early detection, approximately 40% of individuals in the United States between the ages of 50-75 have never been screened for CRC. The low compliance with colonoscopy and fecal-based screening may be addressed with a non-invasive alternative such as a blood-based test. We describe here the analytical validation of a multiplexed blood-based assay that measures the plasma concentrations of 15 proteins to assess advanced adenoma (AA) and CRC risk in symptomatic patients. The test was developed on an electrochemiluminescent immunoassay platform employing four multi-marker panels, to be implemented in the clinic as a laboratory developed test (LDT). Under the Clinical Laboratory Improvement Amendments (CLIA) and College of American Pathologists (CAP) regulations, a United States-based clinical laboratory utilizing an LDT must establish performance characteristics relating to analytical validity prior to releasing patient test results. This report describes a series of studies demonstrating the precision, accuracy, analytical sensitivity, and analytical specificity for each of the 15 assays, as required by CLIA/CAP. In addition, the report describes studies characterizing each of the assays' dynamic range, parallelism, tolerance to common interfering substances, spike recovery, and stability to sample freeze-thaw cycles. Upon completion of the analytical characterization, a clinical accuracy study was performed to evaluate concordance of AA and CRC classifier model calls using the analytical method intended for use in the clinic. Of 434 symptomatic patient samples tested, the percent agreement with original CRC and AA calls was 87% and 92% respectively. All studies followed CLSI guidelines and met the regulatory requirements for implementation of a new LDT. The results provide the analytical evidence to support the implementation of the novel multi-marker test as

Early diagnosis of amyotrophic lateral sclerosis mimic syndromes: pros and cons of current clinical diagnostic criteria.

PubMed

Cortés-Vicente, Elena; Pradas, Jesús; Marín-Lahoz, Juan; De Luna, Noemi; Clarimón, Jordi; Turon-Sans, Janina; Gelpí, Ellen; Díaz-Manera, Jordi; Illa, Isabel; Rojas-Garcia, Ricard

2017-08-01

To describe the frequency and clinical characteristics of patients referred to a tertiary neuromuscular clinic as having amyotrophic lateral sclerosis (ALS) but who were re-diagnosed as having an ALS mimic syndrome, and to identify the reasons that led to the revision of the diagnosis. We reviewed the final diagnosis of all patients prospectively registered in the Sant Pau-MND register from 1 January 2004 to 31 December 2015. A detailed clinical evaluation and a clinically-guided electrophysiological study were performed at first evaluation. Twenty of 314 (6.4%) patients included were re-diagnosed as having a condition other than ALS, in 18 cases already at first evaluation. An alternative specific diagnosis was identified in 17 of those 20, consisting of a wide range of conditions. The main finding leading to an alternative diagnosis was the result of the electrophysiological study. Fifty per cent did not fulfil the El Escorial revised criteria (EECr) for ALS. The most common clinical phenotype at onset in patients with ALS mimic syndromes was progressive muscular atrophy (PMA). Misdiagnosing ALS is still a common problem. Early identification of ALS mimic syndromes is possible based on atypical clinical features and a clinically-guided electrophysiological study. Patients should be attended in specialised centres. The application of EECr helps to identify ALS misdiagnoses.

Prolonged and symptomatic bradycardia following a single dose of fingolimod.

PubMed

Faber, Hans; Fischer, Hans-Jörg; Weber, Frank

2013-01-01

Fingolimod-related bradycardia is usually asymptomatic, reaches its nadir within 6 hours post-dose and recovers spontaneously. Here we report the case of a 30-year-old MS patient with vagotonia who developed symptomatic bradycardia with 33 beats per minute at nadir 39 hours after a single dose of fingolimod. Bradycardia was responsive to atropine, but returned within 2 hours. Overall, it took a week until the patient recovered. Extended monitoring is advised in patients with symptomatic bradycardia.

Breastfeeding and early infection in the aetiology of childhood leukaemia in Down syndrome

PubMed Central

Flores-Lujano, J; Perez-Saldivar, M L; Fuentes-Pananá, E M; Gorodezky, C; Bernaldez-Rios, R; Del Campo-Martinez, M A; Martinez-Avalos, A; Medina-Sanson, A; Paredes-Aguilera, R; De Diego-Flores Chapa, J; Bolea-Murga, V; Rodriguez-Zepeda, M C; Rivera-Luna, R; Palomo-Colli, M A; Romero-Guzman, L; Perez-Vera, P; Alvarado-Ibarra, M; Salamanca-Gómez, F; Fajardo-Gutierrez, A; Mejía-Aranguré, J M

2009-01-01

Background: For a child to develop acute leukaemia (AL), environmental exposure may not be sufficient: interaction with a susceptibility factor to the disease, such as Down syndrome (DS), may also be necessary. We assessed whether breastfeeding and early infection were associated with the risk of developing AL in children with DS. Methods: Children with DS in Mexico City, and either with or without AL, were the cases (N=57) and controls (N=218), respectively. Population was divided in children with AL and with acute lymphoblastic leukaemia (ALL) and also in children ⩽6 and >6 years old. Results: Breastfeeding and early infections showed moderate (but not significant) association for AL, whereas hospitalisation by infection during the first year of life increased the risk: odds ratios (confidence interval 95%) were 0.84 (0.43–1.61), 1.70 (0.82–3.52); and 3.57 (1.59–8.05), respectively. A similar result was obtained when only ALL was analysed. Conclusion: We found that breastfeeding was a protective factor for developing AL and ALL, and during the first year of life, infections requiring hospitalisation were related to a risk for developing the disease in those children with DS >6 years of age. These data do not support the Greaves's hypothesis of early infection being protective for developing ALL. PMID:19707206

Is the Good-Imitator-Poor-Talker Profile Syndrome-Specific in Down Syndrome?: Evidence from Standardised Imitation and Language Measures

ERIC Educational Resources Information Center

Vanvuchelen, M.; Feys, H.; De Weerdt, W.

2011-01-01

The emergence of the Down syndrome (DS) behavioural phenotype during early development may be of great importance for early intervention. The main goal of this study was to investigate the good-imitator-poor-talker developmental profile in DS at preschool age. Twenty children with Down syndrome (DS; mean nonverbal mental age NMA 1 y10 m) and 15…

27-Gauge Vitrectomy for Symptomatic Vitreous Floaters with Topical Anesthesia.

PubMed

Lin, Zhong; Moonasar, Nived; Wu, Rong Han; Seemongal-Dass, Robin R

2017-01-01

Traditionally acceptable methods of anesthesia for vitrectomy surgery are quite varied. However, each of these methods has its own potential for complications that can range from minor to severe. The surgery procedure of vitrectomy for symptomatic vitreous floaters is much simpler, mainly reflecting in the nonuse of sclera indentation, photocoagulation, and the apparently short surgery duration. The use of 27-gauge cannulae makes the puncture of the sclera minimally invasive. Hence, retrobulbar anesthesia, due to its rare but severe complications, seemed excessive for this kind of surgery. Three cases of 27-gauge, sutureless pars plana vitrectomy for symptomatic vitreous floaters with topical anesthesia are reported. The vitrectomy surgeries were successfully performed with topical anesthesia (proparacaine, 0.5%) without operative or postoperative complications. Furthermore, none of the patients experienced apparent pain during or after the surgery. Topical anesthesia can be considered for 27-guage vitrectomy in patients with symptomatic vitreous floaters.

Association Between Early-Onset Parkinson Disease and 22q11.2 Deletion Syndrome

PubMed Central

Butcher, Nancy J.; Kiehl, Tim-Rasmus; Hazrati, Lili-Naz; Chow, Eva W. C.; Rogaeva, Ekaterina; Lang, Anthony E.; Bassett, Anne S.

2015-01-01

IMPORTANCE Clinical case reports of parkinsonism co-occurring with hemizygous 22q11.2 deletions and the associated multisystem syndrome, 22q11.2 deletion syndrome (22q11.2DS), suggest that 22q11.2 deletions may lead to increased risk of early-onset Parkinson disease (PD). The frequency of PD and its neuropathological presentation remain unknown in this common genetic condition. OBJECTIVE To evaluate a possible association between 22q11.2 deletions and PD. DESIGN, SETTING, AND PARTICIPANTS An observational study of the occurrence of PD in the world’s largest cohort of well-characterized adults with a molecularly confirmed diagnosis of 22q11.2DS (n = 159 [6 with postmortem tissue]; age range, 18.1–68.6 years) was conducted in Toronto, Ontario, Canada. Rare postmortem brain tissue from individuals with 22q11.2DS and a clinical history of PD was investigated for neurodegenerative changes and compared with that from individuals with no history of a movement disorder. MAIN OUTCOMES AND MEASURES A clinical diagnosis of PD made by a neurologist and neuropathological features of PD. RESULTS Adults with 22q11.2DS had a significantly elevated occurrence of PD compared with standard population estimates (standardized morbidity ratio = 69.7; 95% CI, 19.0–178.5). All cases showed early onset and typical PD symptom pattern, treatment response, and course. All were negative for family history of PD and known pathogenic PD-related mutations. The common use of antipsychotics in patients with 22q11.2DS to manage associated psychiatric symptoms delayed diagnosis of PD by up to 10 years. Postmortem brain tissue revealed classic loss of midbrain dopaminergic neurons in all 3 postmortem 22q11.2DS-PD cases. Typical α-synuclein–positive Lewy bodies were present in the expected distribution in 2 cases but absent in another. CONCLUSIONS AND RELEVANCE These findings suggest that 22q11.2 deletions represent a novel genetic risk factor for early-onset PD with variable neuropathological

Symptomatic cardiac amyloidosis in an American family

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

Ruder, M.A.; Alpert, M.A.; Sanfelippo, J.F.

1984-07-01

This report describes an American family with a high incidence of symptomatic cardiac amyloidosis among four siblings, and explores the role of echocardiography and technetium pyrophosphate myocardial scintigraphy in the detection of this infiltrative cardiomyopathy within the involved family.

Osteomyelitis: A rare complication of pancreatitis and PPP-syndrome.

PubMed

Langenhan, Ronny; Reimers, Niklas; Probst, Axel

2016-03-01

Pancreatic diseases can be accompanied by periarthritis with bone necrosis and panniculitis (PPP-syndrome). It is postulated that this is caused by systemic activity of pancreatic enzymes leading to microcirculatory disturbances and fat necrosis. The morbidity and mortality of the PPP-syndrome is high. Successful treatment of pancreatitis can lead to resolution of accompanying panniculitis and periarthritis without adverse sequelae, but weeks or months after pancreatitis, asymptomatic necrosis of the bone may become symptomatic by fracturing spontaneously. In this report, we also describe osteomyelitis as a severe septic complication of bone necrosis caused by pancreatitis, in one case as acute tissue necrosis and in another case months after pancreatitis spread haematogenously. Copyright © 2015 Société française de rhumatologie. Published by Elsevier SAS. All rights reserved.

New Jersey's Medicaid waiver for acquired immunodeficiency syndrome

PubMed Central

Merzel, Cheryl; Crystal, Stephen; Sambamoorthi, Usha; Karus, Daniel; Kurland, Carol

1992-01-01

This article contains data from a study of New Jersey's home and community-based Medicaid waiver program for persons with symptomatic human immunodeficiency virus illness. Major findings include lower hospital costs and utilization for waiver participants compared with general Medicaid acquired immunodeficiency syndrome admissions in New Jersey. Average program expenditures were $2,400 per person per month. Based on study findings, it is evident that the waiver program is an important means of providing financial benefits and access to services and that comprehensive case management is a critical factor in assuring program quality. PMID:10120180

A cost-effectiveness analysis of three components of a syndromic surveillance system for the early warning of epidemics in rural China.

PubMed

Ding, Yan; Sauerborn, Rainer; Xu, Biao; Shaofa, Nie; Yan, Weirong; Diwan, Vinod K; Dong, Hengjin

2015-11-14

Syndromic surveillance systems (SSSs) collect non-specific syndromes in early stages of disease outbreaks. This makes an SSS a promising tool for the early detection of epidemics. An Integrated Surveillance System in rural China (ISSC project), which added an SSS to the existing Chinese surveillance system for the early warning of epidemics, was implemented from April 2012 to March 2014 in Jiangxi and Hubei Provinces. This study aims to measure the costs and effectiveness of the three components of the SSS in the ISSC project. The central measures of the cost-effectiveness analysis of the three components of the syndromic surveillance system were: 1) the costs per reported event, respectively, at the health facilities, the primary schools and the pharmacies; and 2) the operating costs per surveillance unit per year, respectively, at the health facilities, the primary schools and the pharmacies. Effectiveness was expressed by reporting outputs which were numbers of reported events, numbers of raw signals, and numbers of verified signals. The reported events were tracked through an internal data base. Signal verification forms and epidemiological investigation reports were collected from local country centers for disease control and prevention. We adopted project managers' perspective for the cost analysis. Total costs included set-up costs (system development and training) and operating costs (data collection, quality control and signal verification). We used self-designed questionnaires to collect cost data and received, respectively, 369 and 477 facility and staff questionnaires through a cross-sectional survey with a purposive sampling following the ISSC project. All data were entered into Epidata 3.02 and exported to Stata for descriptive analysis. The number of daily reported events per unit was the highest at pharmacies, followed by health facilities and finally primary schools. Variances existed within the three groups and also between Jiangxi and Hubei

Results of surgical excision of urethral prolapse in symptomatic patients.

PubMed

Hall, Mary E; Oyesanya, Tola; Cameron, Anne P

2017-11-01

Here, we present the clinical presentation and surgical outcomes of women with symptomatic urethral prolapse presenting to our institution over 20 years, and seek to provide treatment recommendations for management of symptomatic urethral prolapse and caruncle. A retrospective review of medical records from female patients who underwent surgery for symptomatic urethral prolapse from June 1995 to August 2015 was performed. Surgical technique consisted of a four-quadrant excisional approach for repair of urethral prolapse. A total of 26 patients were identified with a mean age of 38.8 years (range 3-81). The most common presentations were vaginal bleeding, hematuria, pain, and dysuria. All patients underwent surgical excision of urethral prolapse via a standard approach. Follow-up data was available in 24 patients. Six patients experienced temporary postoperative bleeding, and one patient required placement of a Foley catheter for tamponade. One patient experienced temporary postoperative urinary retention requiring Foley catheter placement. Three patients had visible recurrence of urethral prolapse, for which one later underwent re-excision. Surgical excision of urethral prolapse is a reasonable treatment option in patients who have tried conservative management without relief, as well as in those who present with severe symptoms. Possible complications following excision include postoperative bleeding and recurrence, and patients must be counseled accordingly. In this work, we propose a treatment algorithm for symptomatic urethral prolapse. © 2017 Wiley Periodicals, Inc.

Early response in cognitive-behavior therapy for syndromes of medically unexplained symptoms.

PubMed

Kleinstäuber, Maria; Lambert, Michael J; Hiller, Wolfgang

2017-05-25

Early dramatic treatment response suggests a subset of patients who respond to treatment before most of it has been offered. These early responders tend to be over represented among those who are well at termination and at follow-up. Early response patterns in psychotherapy have been investigated only for a few of mental disorders so far. The main aim of the current study was to examine early response after five therapy-preparing sessions of a cognitive behavior therapy (CBT) for syndromes of medically unexplained symptoms (MUS). In the context of a randomized, waiting-list controlled trial 48 patients who suffered from ≥3 MUS over ≥6 months received 5 therapy-preparing sessions and 20 sessions of CBT for somatoform disorders. They completed self-report scales of somatic symptom severity (SOMS-7 T), depression (BDI-II), anxiety (BSI), illness anxiety and behavior (IAS) at pre-treatment, after 5 therapy-preparing sessions (FU-5P) and at therapy termination (FU-20 T). The current analyses are based on data from the treatment arm only. Repeated measure ANOVAs revealed a significant decrease of depression (d = 0.34), anxiety (d = 0.60), illness anxiety (d = 0.38) and illness behavior (d = 0.42), but no change of somatic symptom severity (d = -0.03) between pre-treatment and FU-5P. Hierarchical linear multiple regression analyses showed that symptom improvements between pre-treatment and FU-5P predict a better outcome at therapy termination for depression and illness anxiety, after controlling for pre-treatment scores. Mixed-effect ANOVAs revealed significant group*time interaction effects indicating differences in the course of symptom improvement over the therapy between patients who fulfilled a reliable change (i.e., early response) during the 5 therapy-preparing sessions and patients who did not reach an early reliable change. Demographic or clinical variables at pre-treatment were not significantly correlated with differential scores between pre

Symptomatic rotator cuff tears show higher radioisotope uptake on bone scintigraphy compared with asymptomatic tears.

PubMed

Koike, Yoichi; Sano, Hirotaka; Kita, Atushi; Itoi, Eiji

2013-09-01

Some patients with rotator cuff tears complain of pain, whereas others are asymptomatic. Previous studies have pointed out the presence of active bone metabolism in the painful shoulder, identified with increased radioisotope uptake during bone scintigraphy. Shoulders with symptomatic rotator cuff tears will demonstrate higher radioisotope uptake than shoulders with asymptomatic tears with bone scintigraphy, reflecting active bone metabolism in symptomatic tears. Cross-sectional study; Level of evidence, 3. The study consisted of 3 groups: patients with symptomatic tears (symptomatic group), patients with asymptomatic tears (asymptomatic group), and controls (no tear group). The symptomatic group consisted of 28 shoulders from 28 patients with symptomatic rotator cuff tears (pain score ≤4 on the University of California, Los Angeles [UCLA] shoulder evaluation form) who underwent bone scintigraphy followed by rotator cuff repair. Of 70 volunteers who had previously undergone bone scintigraphy for diseases unrelated to their shoulder, 34 were selected for the asymptomatic group (pain score ≥8 on the UCLA shoulder form), and 32 were selected for the no tear group. The mean radioisotope uptake in the symptomatic group was significantly higher than that in the asymptomatic group (P = .02) and the no tear group (P = .02). Ten of 28 shoulders (36%) in the symptomatic group showed increased radioisotope uptake exceeding 2 standard deviations from the mean of the no tear group. This percentage was significantly higher when compared with the asymptomatic group (0%) (P < .01). Shoulders with a symptomatic rotator cuff tear showed higher radioisotope uptake on bone scintigraphy than those with an asymptomatic tear. The radioisotope uptake in shoulders with an asymptomatic tear was comparable with that in shoulders without a tear. Positive radioisotope uptake may be associated with pain in a subgroup of patients with rotator cuff tears.

Incidence and clinical characteristics of symptomatic choroidal metastasis from lung cancer.

PubMed

Kreusel, Klaus-Martin; Bechrakis, Nikolaos E; Wiegel, Thomas; Krause, Lothar; Foerster, Michael H

2008-08-01

To determine the clinical characteristics of symptomatic choroidal metastasis (CM) resulting from metastatic lung cancer. Twenty-two consecutive patients with symptomatic CM resulting from lung cancer were retrospectively reviewed for ocular findings, medical history and systemic disease. All patients underwent a complete screening for further organ metastasis by computed tomography (CT) and bone scintigraphy. Annual frequency of CM was determined and compared with the incidence predicted from ocular screening studies. In eight of 22 (36%; 95% confidence interval [CI] 17-59) patients, lung cancer had been diagnosed before occurrence of CM, with a median interval of 13 months. In 14 patients lung cancer was detected after diagnosis of CM, with a median interval of 1 month. Choroidal metastasis was unilateral, solitary and located close to or at the posterior pole in the majority of patients. Further organ metastasis with a median number of three affected organ systems was present in 19 (86%; 95% CI 65-97) patients. Median survival after diagnosis of symptomatic CM was 13 months, by contrast with 2 months in lung cancer patients with CM identified in an ocular screening study. The mean number of patients in Berlin diagnosed with symptomatic CM was 1.4 per year, which was two orders of magnitude less than predicted from screening studies. Symptomatic choroidal lung cancer metastasis in the majority of patients presents as a solitary tumour before diagnosis of lung cancer in patients with multiple organ systems affected by metastatic disease. Contrary to predictions from ocular screening studies, it is a rare clinical entity.

Exome sequencing reveals a novel Moroccan founder mutation in SLC19A3 as a new cause of early-childhood fatal Leigh syndrome.

PubMed

Gerards, Mike; Kamps, Rick; van Oevelen, Jo; Boesten, Iris; Jongen, Eveline; de Koning, Bart; Scholte, Hans R; de Angst, Isabel; Schoonderwoerd, Kees; Sefiani, Abdelaziz; Ratbi, Ilham; Coppieters, Wouter; Karim, Latifa; de Coo, René; van den Bosch, Bianca; Smeets, Hubert

2013-03-01

Leigh syndrome is an early onset, often fatal progressive neurodegenerative disorder caused by mutations in the mitochondrial or nuclear DNA. Until now, mutations in more than 35 genes have been reported to cause Leigh syndrome, indicating an extreme genetic heterogeneity for this disorder, but still only explaining part of the cases. The possibility of whole exome sequencing enables not only mutation detection in known candidate genes, but also the identification of new genes associated with Leigh syndrome in small families and isolated cases. Exome sequencing was combined with homozygosity mapping to identify the genetic defect in a Moroccan family with fatal Leigh syndrome in early childhood and specific magnetic resonance imaging abnormalities in the brain. We detected a homozygous nonsense mutation (c.20C>A; p.Ser7Ter) in the thiamine transporter SLC19A3. In vivo overexpression of wild-type SLC19A3 showed an increased thiamine uptake, whereas overexpression of mutant SLC19A3 did not, confirming that the mutation results in an absent or non-functional protein. Seventeen additional patients with Leigh syndrome were screened for mutations in SLC19A3 using conventional Sanger sequencing. Two unrelated patients, both from Moroccan origin and one from consanguineous parents, were homozygous for the same p.Ser7Ter mutation. One of these patients showed the same MRI abnormalities as the patients from the first family. Strikingly, patients receiving thiamine had an improved life-expectancy. One patient in the third family deteriorated upon interruption of the thiamine treatment and recovered after reinitiating. Although unrelated, all patients came from the province Al Hoceima in Northern Morocco. Based on the recombination events the mutation was estimated to have occurred 1250-1750 years ago. Our data shows that SLC19A3 is a new candidate for mutation screening in patients with Leigh syndrome, who might benefit from high doses of thiamine and/or biotin. Especially

Multi-symptom illnesses, unexplained illness and Gulf War Syndrome

PubMed Central

Ismail, Khalida; Lewis, Glyn

2006-01-01

Explanatory models for the increased prevalence of ill health in Gulf veterans compared to those not deployed to the Gulf War 1990–1991 remain elusive. This article addresses whether multi-symptom reporting in Gulf veterans are types of medically unexplained symptoms and whether the alleged Gulf War Syndrome is best understood as a medically unexplained syndrome. A review of the epidemiological studies, overwhelmingly cross-sectional, describing ill health was conducted including those that used factor analysis to search for underlying or latent clinical constructs. The overwhelming evidence was that symptoms in Gulf veterans were either in keeping with currently defined psychiatric disorders such as depression and anxiety or were medically unexplained. The application of factor analysis methods had varied widely with a risk of over interpretation in some studies and limiting the validity of their findings. We concluded that ill health in Gulf veterans and the alleged Gulf War Syndrome is best understood within the medically unexplained symptoms and syndromes constructs. The cause of increased reporting in Gulf veterans are still not clear and requires further inquiry into the interaction between sociological factors and symptomatic distress. PMID:16687260

Clinical Presentation of Patients with Symptomatic Anterior Hip Impingement

PubMed Central

Knaus, Evan R.; Hunt, Devyani M.; Lesher, John M.; Harris-Hayes, Marcie; Prather, Heidi

2009-01-01

Femoroacetabular impingement (FAI) is considered a cause of labrochondral disease and secondary osteoarthritis. Nevertheless, the clinical syndrome associated with FAI is not fully characterized. We determined the clinical history, functional status, activity status, and physical examination findings that characterize FAI. We prospectively evaluated 51 patients (52 hips) with symptomatic FAI. Evaluation of the clinical history, physical exam, and previous treatments was performed. Patients completed demographic and validated hip questionnaires (Baecke et al., SF-12, Modified Harris hip, and UCLA activity score). The average patient age was 35 years and 57% were male. Symptom onset was commonly insidious (65%) and activity-related. Pain occurred predominantly in the groin (83%). The mean time from symptom onset to definitive diagnosis was 3.1 years. Patients were evaluated by an average 4.2 healthcare providers prior to diagnosis and inaccurate diagnoses were common. Thirteen percent had unsuccessful surgery at another anatomic site. On exam, 88% of the hips were painful with the anterior impingement test. Hip flexion and internal rotation in flexion were limited to an average 97° and 9°, respectively. The patients were relatively active, yet demonstrated restrictions of function and overall health. These data may facilitate diagnosis of this disorder. Level of Evidence: Level II, diagnostic study. See the Guidelines for Authors for a complete description of levels of evidence. PMID:19130160

Early Negative Affect Predicts Anxiety, not Autism, in Preschool Boys with Fragile X Syndrome

PubMed Central

Tonnsen, Bridgette L.; Malone, Patrick S.; Hatton, Deborah D.

2012-01-01

Children with fragile X syndrome (FXS) face high risk for anxiety disorders, yet no studies have explored FXS as a high-risk sample for investigating early manifestations of anxiety outcomes. Negative affect is one of the most salient predictors of problem behaviors and has been associated with both anxiety and autistic outcomes in clinical and non-clinical pediatric samples. In light of the high comorbidity between autism and anxiety within FXS, the present study investigates the relationship between longitudinal trajectories of negative affect (between 8 and 71 months) and severity of anxiety and autistic outcomes in young males with FXS (n= 25). Multilevel models indicated associations between elevated anxiety and higher fear and sadness, lower soothability, and steeper longitudinal increases in approach. Autistic outcomes were unrelated to negative affect. These findings suggest early negative affect differentially predicts anxiety, not autistic symptoms, within FXS. Future research is warranted to determine the specificity of the relationship between negative affect and anxiety, as well as to explore potential moderators. Characterizing the relationship between early negative affect and anxiety within FXS may inform etiology and treatment considerations specific to children with FXS, as well as lend insight into precursors of anxiety disorders in other clinical groups and community samples. PMID:23011214

Brown-Vialetto-Van Laere syndrome

PubMed Central

Sathasivam, Sivakumar

2008-01-01

The Brown-Vialetto-Van Laere syndrome (BVVL) is a rare neurological disorder characterized by progressive pontobulbar palsy associated with sensorineural deafness. Fifty-eight cases have been reported in just over 100 years. The female to male ratio is approximately 3:1. The age of onset of the initial symptom varies from infancy to the third decade. The syndrome most frequently presents with sensorineural deafness, which is usually progressive and severe. Lower cranial nerve involvement and lower and upper motor neuron limb signs are common neurological features. Other features include respiratory compromise (the most frequent non-neurological finding), limb weakness, slurring of speech, facial weakness, and neck and shoulder weakness. Optic atrophy, retinitis pigmentosa, macular hyperpigmentation, autonomic dysfunction, epilepsy may occur. The etiopathogenesis of the condition remains elusive. Approximately 50% of cases are familial, of which autosomal recessive is suggested. The remaining cases are sporadic. The diagnosis is usually based on the clinical presentation. Investigations (neurophysiological studies, magnetic resonance imaging of the brain, muscle biopsy, cerebrospinal fluid examination) are done to exclude other causes or to confirm the clinical findings. The differential diagnoses include the Fazio-Londe syndrome, amyotrophic lateral sclerosis, Nathalie syndrome, Boltshauser syndrome and Madras motor neuron disease. Treatment with steroids or intravenous immunoglobulin may result in temporary stabilization of the syndrome. However, the mainstays of management are supportive and symptomatic treatment, in particular assisted ventilation and maintenance of nutrition via gastrostomy. The clinical course of BVVL is variable and includes gradual deterioration (almost half of cases), gradual deterioration with stable periods in between (a third of cases) and deterioration with abrupt periods of worsening (just under a fifth of cases). After the initial

Adult onset of the Dandy-Walker syndrome.

PubMed

Lipton, H L; Preziosi, T J; Moses, H

1978-10-01

Two patients with the Dandy-Walker malformation first developed neurologic symptoms in adult life. In both patients there was normal motor and intellectual development during childhood, but as adults they had gradual evolution of brain stem and cerebellar signs and obstructive hydrocephalus. Following resection of the fourth ventricular cyst, both patients recovered. A review of the literature disclosed seven additional patients in whom the Dandy-Walker syndrome was first diagnosed in adult life. These cases illustrate that this congenital brain malformation may not only first become symptomatic later in life, but that it is possible for patients to remain asymptomatic.

Intraoperative navigation-guided resection of anomalous transverse processes in patients with Bertolotti's syndrome

PubMed Central

Babu, Harish; Lagman, Carlito; Kim, Terrence T.; Grode, Marshall; Johnson, J. Patrick; Drazin, Doniel

2017-01-01

Background: Bertolotti's syndrome is characterized by enlargement of the transverse process at the most caudal lumbar vertebra with a pseudoarticulation between the transverse process and sacral ala. Here, we describe the use of intraoperative three-dimensional image-guided navigation in the resection of anomalous transverse processes in two patients with Bertolotti's syndrome. Case Descriptions: Two patients diagnosed with Bertolotti's syndrome who had undergone the above-mentioned procedure were identified. The patients were 17- and 38-years-old, and presented with severe, chronic low back pain that was resistant to conservative treatment. Imaging revealed lumbosacral transitional vertebrae at the level of L5-S1, which was consistent with Bertolotti's syndrome. Injections of the pseudoarticulations resulted in only temporary symptomatic relief. Thus, the patients subsequently underwent O-arm neuronavigational resection of the bony defects. Both patients experienced immediate pain resolution (documented on the postoperative notes) and remained asymptomatic 1 year later. Conclusion: Intraoperative three-dimensional imaging and navigation guidance facilitated the resection of anomalous transverse processes in two patients with Bertolotti's syndrome. Excellent outcomes were achieved in both patients. PMID:29026672

Intraoperative navigation-guided resection of anomalous transverse processes in patients with Bertolotti's syndrome.

PubMed

Babu, Harish; Lagman, Carlito; Kim, Terrence T; Grode, Marshall; Johnson, J Patrick; Drazin, Doniel

2017-01-01

Bertolotti's syndrome is characterized by enlargement of the transverse process at the most caudal lumbar vertebra with a pseudoarticulation between the transverse process and sacral ala. Here, we describe the use of intraoperative three-dimensional image-guided navigation in the resection of anomalous transverse processes in two patients with Bertolotti's syndrome. Two patients diagnosed with Bertolotti's syndrome who had undergone the above-mentioned procedure were identified. The patients were 17- and 38-years-old, and presented with severe, chronic low back pain that was resistant to conservative treatment. Imaging revealed lumbosacral transitional vertebrae at the level of L5-S1, which was consistent with Bertolotti's syndrome. Injections of the pseudoarticulations resulted in only temporary symptomatic relief. Thus, the patients subsequently underwent O-arm neuronavigational resection of the bony defects. Both patients experienced immediate pain resolution (documented on the postoperative notes) and remained asymptomatic 1 year later. Intraoperative three-dimensional imaging and navigation guidance facilitated the resection of anomalous transverse processes in two patients with Bertolotti's syndrome. Excellent outcomes were achieved in both patients.

27-Gauge Vitrectomy for Symptomatic Vitreous Floaters with Topical Anesthesia

PubMed Central

Lin, Zhong; Moonasar, Nived; Wu, Rong Han; Seemongal-Dass, Robin R.

2017-01-01

Purpose Traditionally acceptable methods of anesthesia for vitrectomy surgery are quite varied. However, each of these methods has its own potential for complications that can range from minor to severe. The surgery procedure of vitrectomy for symptomatic vitreous floaters is much simpler, mainly reflecting in the nonuse of sclera indentation, photocoagulation, and the apparently short surgery duration. The use of 27-gauge cannulae makes the puncture of the sclera minimally invasive. Hence, retrobulbar anesthesia, due to its rare but severe complications, seemed excessive for this kind of surgery. Method Three cases of 27-gauge, sutureless pars plana vitrectomy for symptomatic vitreous floaters with topical anesthesia are reported. Results The vitrectomy surgeries were successfully performed with topical anesthesia (proparacaine, 0.5%) without operative or postoperative complications. Furthermore, none of the patients experienced apparent pain during or after the surgery. Conclusion Topical anesthesia can be considered for 27-guage vitrectomy in patients with symptomatic vitreous floaters. PMID:28203195

Association of human herpesvirus 6 subtypes with symptomatic apical periodontitis.

PubMed

Hernádi, Katinka; Csoma, Eszter; Adám, Balázs; Szalmás, Anita; Gyöngyösi, Eszter; Veress, György; Ildikó-Márton; Kónya, József

2011-09-01

The occurrence of human herpesvirus (HHV) 6 subtypes A and B in apical periodontitis was determined. The relationship of HHV-6 subtypes to other disease associated herpesviruses, i.e., Epstein-Barr virus (EBV) and human cytomegalovirus, was also investigated. Forty apical periodontitis samples (17 symptomatic and 23 asymptomatic) and 40 healthy pulp control samples were collected. Nested polymerase chain reaction was used to detect HHV-6 DNA. HHV-6 DNA was observed in significantly higher frequencies in apical periodontitis samples than in control samples (20% vs. 2.5%; P = .03). Further classification of apical lesions revealed that subtype B of HHV-6 was significantly associated with large-sized and symptomatic lesions (P < .01). Thirty-one apical lesions (77%) harbored ≥1 of the tested herpesviruses: EBV was the most frequent herpesvirus (72.5%) in apical periodontitis, followed by HHV-6 (20%). Our findings suggest that EBV and HHV-6B infections can be associated with symptomatic apical periodontitis. Copyright © 2011 Mosby, Inc. All rights reserved.

Intrathecal Baclofen Therapy for the Treatment of Spasticity in Sjögren-Larsson Syndrome.

PubMed

Hidalgo, Eveline Teresa; Orillac, Cordelia; Hersh, Andrew; Harter, David H; Rizzo, William B; Weiner, Howard L

2017-01-01

Intrathecal baclofen therapy is widely accepted as a treatment option for patients with severe spasticity. The current treatment of spasticity in patients with Sjögren-Larsson syndrome is largely symptomatic, given that no effective causal therapy treatments are available. We report the outcome of 2 patients with Sjögren-Larsson syndrome who had pump implantation for intrathecal baclofen. We observed a positive response, with a decrease of spasticity, reflecting in the Modified Ashworth Scale, and parents and caregivers observed a functional improvement in both patients. One patient experienced skin irritation 15 months after surgery, necessitating pump repositioning. No infection occurred. Our report shows that intrathecal baclofen therapy can have a positive therapeutic effect on spasticity in patients with Sjögren-Larsson syndrome, and therefore may be a promising addition to current treatments.

Joint Engagement and Early Language in Young Children With Fragile X Syndrome

PubMed Central

Brady, Nancy C.; Fleming, Kandace K.; Warren, Steven F.

2016-01-01

Purpose In this study, we examine joint engagement (JE) in young children with fragile X syndrome (FXS) and its relationship to language abilities and autism spectrum disorder symptomatology at 24 to 36 months (toddler period) and 59 to 68 months (child period). Method Participants were 28 children with FXS (24 boys, four girls) and their mothers. Videotaped home observations were conducted during the toddler period and coded for JE. Language abilities were measured at both ages from a developmental assessment, a functional measure, and from a language sample. The Childhood Autism Rating Scale (Schopler, Reichler, & Renner, 1988) was completed at both ages. Results Children with FXS spent more time in supported JE than in coordinated JE. Using a weighted JE variable, we found that children with FXS who had higher weighted JE scores also had more advanced expressive language skills at both the toddler and child periods. Weighted JE was negatively related to autism symptomatology in the toddler period. Conclusion This study provides evidence that children with FXS who use more JE also have more advanced expressive language skills in early development. Therefore, existing early interventions that target JE behaviors may be effective for promoting language, social communication, and social interaction in this population. PMID:27681878

Early impaired β-cell function in chinese women with polycystic ovary syndrome.

PubMed

Tao, Tao; Li, Shengxian; Zhao, Aimin; Mao, Xiuyin; Liu, Wei

2012-01-01

The pathogenic factors that account for the development of diabetes condition in Chinese women with polycystic ovary syndrome (PCOS) remain elusive. To clarify the pathogenic features by evaluating the levels of insulin sensitivity and β cell function in these women with PCOS, either separately or by using of a disposition indexes (DIs). Cross-sectional study involving 137 Chinese women with PCOS and 123 normal women were examined by anthropometry, lipid profile, sex hormone, high-sensitivity C reactive protein, oral glucose tolerance tests and insulin tolerance tests. After controlling for BMI status, the Matsuda Index was significantly lower in women with PCOS in comparison to those of normal women (p<0.000). The early phase of insulin secretion (insulinogenic index) remained significantly lower in lean women with PCOS(LP) than those of both lean and obese women of control group (p=0.007, and p = 0.01, respectively). The mean HOMA-F values were significantly lower (p =0.045) in obese women with PCOS (OP) than those of BMI-matched women. Further, all DIs derived from non-fasting state indexes in women with PCOS were significantly lower than those of BMI-matched control women (p<0.001 for all). Lastly, DIs derived from fasting states indexes in OP were significantly lower than those of LP. Early impaired β cell function was detected in both LP and OP. However, more serious primary defect in insulin action was detected in LP compared to OP. These findings imply that early screening and intervention for PCOS would be therapeutic for Chinese women.

Severe early onset retinitis pigmentosa in a Moroccan patient with Heimler syndrome due to novel homozygous mutation of PEX1 gene.

PubMed

Ratbi, Ilham; Jaouad, Imane Cherkaoui; Elorch, Hamza; Al-Sheqaih, Nada; Elalloussi, Mustapha; Lyahyai, Jaber; Berraho, Amina; Newman, William G; Sefiani, Abdelaziz

2016-10-01

Heimler syndrome (HS) is a rare recessive disorder characterized by sensorineural hearing loss (SNHL), amelogenesis imperfecta, nail abnormalities, and occasional or late-onset retinal pigmentation. It is the mildest form known to date of peroxisome biogenesis disorder caused by hypomorphic mutations of PEX1 and PEX6 genes. We report on a second Moroccan family with Heimler syndrome with early onset, severe visual impairment and important phenotypic overlap with Usher syndrome. The patient carried a novel homozygous missense variant c.3140T > C (p.Leu1047Pro) of PEX1 gene. As standard biochemical screening of blood for evidence of a peroxisomal disorder did not provide a diagnosis in the individuals with HS, patients with SNHL and retinal pigmentation should have mutation analysis of PEX1 and PEX6 genes. Copyright © 2016 Elsevier Masson SAS. All rights reserved.

Genetics Home Reference: Blau syndrome

MedlinePlus

... inherited version of the disorder called early-onset sarcoidosis. Related Information What does it mean if a ... Genetic Testing Registry: Blau syndrome Genetic Testing Registry: Sarcoidosis, early-onset Other Diagnosis and Management Resources (2 ...

Alport syndrome: facts and opinions.

PubMed

Kashtan, Clifford

2017-01-01

In this commentary, I review recent advances in Alport syndrome genetics, diagnostics, and therapeutics. I also offer some opinions regarding strategies to optimize the early identification of affected individuals to promote early therapeutic intervention.

Gorlin-Goltz syndrome.

PubMed

Jawa, Deepti Singh; Sircar, Keya; Somani, Rani; Grover, Neeraj; Jaidka, Shipra; Singh, Sanjeet

2009-07-01

Gorlin-Goltz syndrome is an autosomal dominant inherited disorder characterized by the presence of multiple odontogenic keratocysts along with various cutaneous, dental, osseous, ophthalmic, neurological, and sex organ abnormalities. Early diagnosis is essential as it may progress to aggressive basal cell carcinomas and neoplasias. Gorlin-Goltz syndrome has rarely been reported from India. We report here one such patient, diagnosed at a rural hospital.

Malaria prevalence in asymptomatic and symptomatic children in Kiwangwa, Bagamoyo district, Tanzania.

PubMed

Sumari, Deborah; Mwingira, Felista; Selemani, Majige; Mugasa, Joseph; Mugittu, Kefas; Gwakisa, Paul

2017-05-25

Malaria prevalence continues to decline across sub-Saharan Africa as a result of various intervention strategies. However, the diseases still poses a public health concern in the region. While symptomatic malaria is recognized and treated, asymptomatic infections become increasingly important for interrupting transmission. A cross-sectional survey was conducted to assess malaria prevalence in symptomatic and asymptomatic children in Kiwangwa ward in Bagamoyo District in Tanzania. Four hundred school-aged children in Kiwanga ward were recruited in the study; 200 from Kiwangwa dispensary and 200 from nearby schools. Primary health parameters were examined and blood samples collected and examined for Plasmodium falciparum prevalence using rapid diagnostic test (RDT), light microscopy (LM) and reverse transcription quantitative PCR (RT-qPCR) targeting transcripts of A-type 18s rRNA of P. falciparum. Gametocytes were detected by LM and RT-qPCR targeting transcripts of gametocyte specific marker, Pfs25. Overall P. falciparum prevalence was 73.3, 40.8 and 36.3% by RT-qPCR, RDT and LM in the study area, respectively (P < 0.001). As expected symptomatic children had a significantly higher prevalence of 89, 67.5 and 64.5% by qPCR, RDT and LM, compared to 57.5, 14 and 8% in the asymptomatic group, respectively. However, gametocyte prevalence in asymptomatic individuals was higher by both LM (2%) and qPCR (14%) than in symptomatic individuals LM (0.5%) and qPCR (3%). A substantial difference in prevalence of symptomatic and asymptomatic infections observed in Kiwangwa ward underpins the use of molecular tools in malaria surveillance aiming at estimating prevalence and transmission. Notably, the higher gametocytaemia observed in asymptomatic children indicates the reservoir infections and points to the need for detection and treatment of both asymptomatic and symptomatic malaria.

Gorlin-Goltz Syndrome: A Rare Case Report of a 11-Year-Old Child.

PubMed

Tandon, Sandeep; Chauhan, Yashwant; Sharma, Meenakshi; Jain, Manish

2016-01-01

Gorlin-Goltz Syndrome, also known as nevoid basal cell carcinoma syndrome (NBCCS), is an autosomal dominant trait caused due to mutations in the patched tumor suppressor gene (PTCH) gene found on the long arm of chromosome 9. The syndrome is characterized by the presence of odontogenic keratocysts (OKCs), basal cell carcinomas, and skeletal malformations. Early diagnosis of the syndrome can be done by pedodontist as OKC is one of the early manifestations of the syndrome. Early diagnosis and treatment is important for long-term prognosis of the syndrome by reducing the severity of cutaneous carcinomas and deformities due to jaw cyst. The present case describes an 11-year-old patient with some typical features of NBCCS, which were diagnosed through its oral and maxillofacial manifestations. This case emphasizes the importance of pedodontist in early recognition of the syndrome. Tandon S, Chauhan Y, Sharma M, Jain M. Gorlin-Goltz Syndrome: A Rare Case Report of a 11-Year-Old Child. Int J Clin Pediatr Dent 2016;9(3):264-268.

Gorlin-Goltz Syndrome: A Rare Case Report of a 11-Year-Old Child

PubMed Central

Tandon, Sandeep; Chauhan, Yashwant; Jain, Manish

2016-01-01

Gorlin-Goltz Syndrome, also known as nevoid basal cell carcinoma syndrome (NBCCS), is an autosomal dominant trait caused due to mutations in the patched tumor suppressor gene (PTCH) gene found on the long arm of chromosome 9. The syndrome is characterized by the presence of odontogenic keratocysts (OKCs), basal cell carcinomas, and skeletal malformations. Early diagnosis of the syndrome can be done by pedodontist as OKC is one of the early manifestations of the syndrome. Early diagnosis and treatment is important for long-term prognosis of the syndrome by reducing the severity of cutaneous carcinomas and deformities due to jaw cyst. The present case describes an 11-year-old patient with some typical features of NBCCS, which were diagnosed through its oral and maxillofacial manifestations. This case emphasizes the importance of pedodontist in early recognition of the syndrome. How to cite this article Tandon S, Chauhan Y, Sharma M, Jain M. Gorlin-Goltz Syndrome: A Rare Case Report of a 11-Year-Old Child. Int J Clin Pediatr Dent 2016;9(3):264-268. PMID:27843260

Reduction in early stroke risk in carotid stenosis with transient ischemic attack associated with statin treatment

PubMed Central

Merwick, Áine; Albers, Gregory W; Arsava, Ethem M; Ay, Hakan; Calvet, David; Coutts, Shelagh B; Cucchiara, Brett L; Demchuk, Andrew M; Giles, Matthew F; Mas, Jean-Louis; Olivot, Jean Marc; Purroy, Francisco; Rothwell, Peter M; Saver, Jeffrey L; Sharma, Vijay K; Tsivgoulis, Georgios; Kelly, Peter J

2013-01-01

Background and Purpose Statins reduce stroke risk when initiated months after TIA/stroke and reduce early vascular events in acute coronary syndromes, possibly via pleiotropic plaque-stabilisation. Few data exist regarding acute statin use in TIA. We aimed to determine if statin pre-treatment at TIA onset modified early stroke risk in carotid stenosis. Methods We analyzed data from 2770 TIA patients from 11 centres, 387 with ipsilateral carotid stenosis. ABCD2 score, abnormal DWI, medication pre-treatment, and early stroke were recorded. Results In patients with carotid stenosis, 7-day stroke risk was 8.3% (95% confidence interval [CI] 5.7–11.1) compared with 2.7% [CI 2.0–3.4%] without stenosis (p<0.0001) (90-day risks 17.8% and 5.7% [p<0.0001]). Among carotid stenosis patients, non-procedural 7-day stroke risk was 3.8% [CI 1.2–9.7%] with statin treatment at TIA onset, compared to 13.2% [CI 8.5–19.8%] in those not statin pre-treated (p=0.01) (90-day risks 8.9% versus 20.8% [p=0.01]). Statin pre-treatment was associated with reduced stroke risk in carotid stenosis patients (OR for 90-day stroke 0.37, CI 0.17–0.82), but not non-stenosis patients (OR 1.3, CI 0.8–2.24) (p for interaction 0.008). On multivariable logistic regression, the association remained after adjustment for ABCD2 score, smoking, antiplatelet treatment, recent TIA, and DWI hyperintensity (adjusted p for interaction 0.054). Conclusion In acute symptomatic carotid stenosis, statin pre-treatment was associated with reduced stroke risk, consistent with findings from randomized trials in acute coronary syndromes. These data support the hypothesis that statins started acutely after TIA symptom onset may also be beneficial to prevent early stroke. Randomized trials addressing this question are required. PMID:23908061

Primary intestinal lymphangiectasia as a component of autoimmune polyglandular syndrome type I: a report of 2 cases.

PubMed

Makharia, Govind K; Tandon, Nikhil; Stephen, Neil de Jesus Rangel; Gupta, Siddhartha Datta; Tandon, Rakesh K

2007-01-01

Chronic diarrhea and steatorrhea occur frequently in patients with autoimmune polyglandular syndrome (APS) type I. Intestinal lymphangiectasia has been reported earlier as a cause of steatorrhea in a young girl with APS Type I. We describe 2 patients with APS Type I who were found to have intestinal lymphangiectasia, one of whom had symptomatic protein-losing enteropathy.

Enteric-coated, pH-dependent peppermint oil capsules for the treatment of irritable bowel syndrome in children.

PubMed

Kline, R M; Kline, J J; Di Palma J; Barbero, G J

2001-01-01

In a randomized, double-blind controlled trial, 42 children with irritable bowel syndrome (IBS) were given pH-dependent, enteric-coated peppermint oil capsules or placebo. After 2 weeks, 75% of those receiving peppermint oil had reduced severity of pain associated with IBS. Peppermint oil may be used as a therapeutic agent during the symptomatic phase of IBS.

Early acute myeloblastic leukemia treatment for childhood myelodysplastic syndrome with t(3;5) (NPM/MLF1).

PubMed

Sevilla, Julián; Fernández-Plaza, Sandra; Lassaletta, Alvaro; González-Vicent, Marta; Contra, Trinidad; Madero, Luis

2007-12-01

Myelodysplastic syndromes (MDS) in childhood are rare hematologic diseases. MDS with t(3;5) (NPM/MLF1) is an unusual subtype without a well-defined clinical and prognostic pattern. A poor outcome has been reported, suggesting that hematopoietic transplantation is the only treatment option. Here in we described a 2-year-old child diagnosed with the disease, without a suitable hematopoietic donor, treated early in the disease with chemotherapy. He is alive and well 4 years after the end of treatment. This unusual MDS needs further studies to better understand the disease.

Early environmental therapy rescues brain development in a mouse model of Down syndrome.

PubMed

Begenisic, Tatjana; Sansevero, Gabriele; Baroncelli, Laura; Cioni, Giovanni; Sale, Alessandro

2015-10-01

Down syndrome (DS), the most common genetic disorder associated with intellectual disabilities, is an untreatable condition characterized by a number of developmental defects and permanent deficits in the adulthood. Ts65Dn mice, the major animal model for DS, display severe cognitive and synaptic plasticity defects closely resembling the human phenotype. Here, we employed a multidisciplinary approach to investigate, for the first time in developing Ts65Dn mice, the effects elicited by early environmental enrichment (EE) on brain maturation and function. We report that exposure to EE resulted in a robust increase in maternal care levels displayed by Ts65Dn mothers and led to a normalization of declarative memory abilities and hippocampal plasticity in trisomic offspring. The positive effects of EE on Ts65Dn phenotype were not limited to the cognitive domain, but also included a rescue of visual system maturation. The beneficial EE effects were accompanied by increased BDNF and correction of over-expression of the GABA vesicular transporter vGAT. These findings highlight the beneficial impact of early environmental stimuli and their potential for application in the treatment of major functional deficits in children with DS. Copyright © 2015 Elsevier Inc. All rights reserved.

The autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome.

PubMed

LeBoeuf, Nicole; Garg, Amit; Worobec, Sophie

2007-01-01

The autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome is characterized by the presence of chronic mucocutaneous candidiasis, adrenal insufficiency, and hypoparathyroidism. Almost all patients have skin or nail findings early in the course of the disease. Therefore, the dermatologist is in the unique position of being able to identify patients with this syndrome early in its course and to facilitate careful monitoring of potentially lethal complications.