The frequency of Duchenne muscular dystrophy/Becker muscular dystrophy and Pompe disease in children with isolated transaminase elevation: results from the observational VICTORIA study

IntroductionElevated transaminases and/or creatine phosphokinase can indicate underlying muscle disease. Therefore, this study aims to determine the frequency of Duchenne muscular dystrophy/Becker muscular dystrophy (DMD/BMD) in male children and Pompe disease (PD) in male and female children with isolated hypertransaminasemia.MethodsThis multi-center, prospective study enrolled patients aged 3–216 months with serum alanine transaminase (ALT) and/or aspartate transaminase (AST) levels >2× the upper limit of normal (ULN) for ≥3 months. Patients with a known history of liver or muscle disease or physical examination findings suggestive of liver disease were excluded. Patients were screened for creatinine phosphokinase (CPK) levels, and molecular genetic tests for DMD/BMD in male patients and enzyme analysis for PD in male and female patients with elevated CPK levels were performed. Genetic analyses confirmed PD. Demographic, clinical, and laboratory characteristics of the patients were analyzed.ResultsOverall, 589 patients [66.8% male, mean age of 63.4 months (standard deviation: 60.5)] were included. In total, 251 patients (188 male and 63 female) had CPK levels above the ULN. Of the patients assessed, 47% (85/182) of male patients were diagnosed with DMD/BMD and 1% (3/228) of male and female patients were diagnosed with PD. The median ALT, AST, and CPK levels were statistically significantly higher, and the questioned neurological symptoms and previously unnoticed examination findings were more common in DMD/BMD patients than those without DMD/BMD or PD (p < 0.001).DiscussionQuestioning neurological symptoms, conducting a complete physical examination, and testing for CPK levels in patients with isolated hypertransaminasemia will prevent costly and time-consuming investigations for liver diseases and will lead to the diagnosis of occult neuromuscular diseases. Trial RegistrationClinicaltrials.gov NCT04120168

The elusive transformation--politics and economy during the formative decades of the capitalist state in Turkey, 1908-1930

Thesis (Ph. D.)--Massachusetts Institute of Technology, Dept. of Political Science, 1990.Includes bibliographical references (v. 5, leaves [1208]-1272).by Aykut Kansu.Ph.D

Corneal topographic changes after transconjunctival 23-gauge sutureless vitrectomy

To evaluate the topographic changes of cornea after pars plana vitrectomy (PPV) with the 23-gauge- (23-G) transconjunctival sutureless vitrectomy (TSV) system within the first postoperative month. In this prospective study, corneal topographic changes were evaluated in 24 eyes of 24 patients who underwent PPV with the 23-G TSV system. All eyes underwent computer-assisted videokeratography using NAVIS (Nidek Advanced Vision Information System) software preoperatively and at the first day, first week, and first month postoperatively. The topographic parameters that were analyzed statistically were the average corneal power (ACP), corneal surface cylinder (CSC), surface asymmetry index (SAI), and surface regularity index (SRI). Mean induced astigmatism was estimated by vector analysis software. The Wilcoxon test was used for statistical analysis. Mean ACP was 43.12 ± 1.16 diopters (D) preoperatively and 42.88 ± 1.44 D at first day (P = 0.301), 43.04 ± 1.14 D at first week (P = 0.796), and 43.32 ± 1.17 D at first month postoperatively (P = 0.187). Mean CSC was 0.61±0.32 D preoperatively and 0.71 ± 0.48 D at first day (P = 0.918), 0.60 ± 0.25 D at first week (P = 0.826), and 0.70 ± 0.33 D at first month postoperatively (P = 0.414). Mean SAI was 0.12 ± 0.05 preoperatively and 0.21 ± 0.16 at first day (P = 0.070), 0.15 ± 0.06 at first week (P = 0.176), and 0.16 ± 0.09 at first month postoperatively (P = 0.198). Mean SRI was 0.41 ± 0.37 preoperatively and 1.05 ± 0.41 at first day (P = 0.001), 0.54 ± 0.42 at first week (P = 0.211), and 0.41 ± 0.5 at first month postoperatively (P = 0.861). Mean surgically induced astigmatism was 0.67 ± 0.7 D at first day, 0.36 ± 0.2 D at first week, and 0.33 ± 0.17 D at first month postoperatively. Corneal surface and astigmatic changes were observed to be insignificant in the early postoperative period after PPV with the 23-G TSV system. © 2011 Springer Science+Business Media B.V

Evaluation of serum heavy metal levels on primary ovarian insufficiency

In this study we aimed to investigate the level of exposure to these toxic heavy metals such as Aluminum (Al), Arsenic (As), Mercury (Hg) ,Manganese (Mn) and Lead (Pb) among Premature Ovarian Insufficiency (POI) patients. This cross-sectional study was performed in 23 women with normal reproductive hormones (control) and 23 women with POI (case). Risk factors evaluated were; age,body mass index(BMI), gravidity and blood serum metal levels (Al,As,Hg,Mn,Pb). Risk factors were compared between groups. Women with history of pelvic surgery, any cancer or autoimmune disease treatment, endometriosis and other chronic systemic diseases were excluded from the study. The Age, BMI and Gravidity were similar between the case and control group (p > 0.05). And also the aluminum, arsenic, manganese, mercury and lead serum levels were smilar between the case and control group (p > 0.05). Etiology of most POI cases remains undetermined. Early recognition of predisposing factors of POI may help to make prevention about ovarian failure and would offer this patient population the opportunity to preserve fertility. Identifying people with elevated blood heavy metal levels will give chance of avoiding oncoming destructive health effects of heavy metals. [Med-Science 2018; 7(1.000): 39-42

Turkish Neurology Board Examinations: 2004-2008

This study aims to describe planning, application and the results of Turkish Neurology Board Examinations. Data was collected from five Board Examination process and with feedback questionnaires of the examinee between 2004 and 2008. Results were presented with descriptive tables and charts. KR 20 coefficients demonstrated that tests were reliabl

Table1_The frequency of Duchenne muscular dystrophy/Becker muscular dystrophy and Pompe disease in children with isolated transaminase elevation: results from the observational VICTORIA study.docx

IntroductionElevated transaminases and/or creatine phosphokinase can indicate underlying muscle disease. Therefore, this study aims to determine the frequency of Duchenne muscular dystrophy/Becker muscular dystrophy (DMD/BMD) in male children and Pompe disease (PD) in male and female children with isolated hypertransaminasemia.MethodsThis multi-center, prospective study enrolled patients aged 3–216 months with serum alanine transaminase (ALT) and/or aspartate transaminase (AST) levels >2× the upper limit of normal (ULN) for ≥3 months. Patients with a known history of liver or muscle disease or physical examination findings suggestive of liver disease were excluded. Patients were screened for creatinine phosphokinase (CPK) levels, and molecular genetic tests for DMD/BMD in male patients and enzyme analysis for PD in male and female patients with elevated CPK levels were performed. Genetic analyses confirmed PD. Demographic, clinical, and laboratory characteristics of the patients were analyzed.ResultsOverall, 589 patients [66.8% male, mean age of 63.4 months (standard deviation: 60.5)] were included. In total, 251 patients (188 male and 63 female) had CPK levels above the ULN. Of the patients assessed, 47% (85/182) of male patients were diagnosed with DMD/BMD and 1% (3/228) of male and female patients were diagnosed with PD. The median ALT, AST, and CPK levels were statistically significantly higher, and the questioned neurological symptoms and previously unnoticed examination findings were more common in DMD/BMD patients than those without DMD/BMD or PD (p DiscussionQuestioning neurological symptoms, conducting a complete physical examination, and testing for CPK levels in patients with isolated hypertransaminasemia will prevent costly and time-consuming investigations for liver diseases and will lead to the diagnosis of occult neuromuscular diseases. Trial RegistrationClinicaltrials.gov NCT04120168.</p