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

Test Data Generatıon In Matlab By Usıng Dynamıc Symbolıc Executıon

In Software Testing process, it is preferred that test data has a high coverage ratio and is applicable amount. Dynamic Symbolic Execution (DSE) method can provide these two benefits together. Within the scope of this thesis, a tool is developed to generate test data using Dynamic Symbolic Execution method on software in MATLAB. The tool can generate appropriate number of test data as an open source DSE test data generation tool. In addition, the effectiveness of testing will be increased by ensuring the high coverage of the test data through dynamic symbolic execution method.Yazılım Test Sürecinde kullanılacak test verilerinin yüksek kapsama (İng. coverage) oranına sahip olması ve uygulanabilir miktarda olması tercih edilir. Dinamik Sembolik İşletme (İng. Dynamic Symbolic Execution) yöntemi bu iki yararı bir arada sağlayabilmektedir. Bu tez kapsamında MATLAB’da yer alan yazılımlar üzerinde Dinamik Sembolik İşletme yöntemi kullanılarak test verisi üretimi yapan bir araç geliştirilmiştir. Bu sayede test verimliliğinin artırılması hedeflenmiştir. Araç ile uygun sayıda test verisi, açık kaynak bir test aracıyla aynı sonuçları verecek şekilde üretilebilmektedir. Ayrıca Dinamik Sembolik İşletme yöntemi sayesinde test verilerinin yüksek kapsama oranına sahip olması sağlanarak test verimliliğinin arttığı gözlemlenmiştir