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The ultra-rare DES c.1289-2A>G mutation, resulting in a 48-base pair insertion in the Desmin tail domain, is associated with late-onset MFM1 (myofibrillar myopathy-1; OMIM number; 601419) and exhibits distinctive pathological features. Despite sustained expression and cytoskeletal integrity, muscle biopsies reveal dystrophic characteristics through an unidentified mechanism. A deeper understanding of the molecular mechanisms underlying Desmin-related MFM1 could enhance our perspective and comprehension of the disease’s pathophysiology. In this study, we aimed to investigate the pathological phenotype by assessing the myogenic potency of MyoD-induced patient-derived fibroblasts.

This study was conducted to measure the doping knowledge levels of athletes in the natural sled discipline actively working in Turkey. In this context, a personal information form developed by the researcher and the "Attitude Scale Towards Doping Use" developed by Şapçı (12) were administered to 55 athletes who participated in the 2020 Natural Sled Turkey Championship. The collected data were initially entered into the SPSS 26 statistical program. Descriptive statistics, independent samples t-test, and one-way analysis of variance (ANOVA) were used for data analysis. Additionally, the Mann Whitney U test was used for the scores of the international medal variable. In one-way analysis of variance, the Scheffe Post Hoc multiple comparison test was used to determine which groups had significant differences. As a result of the statistics conducted, it was concluded that male athletes participating in the research had higher doping knowledge levels than female athletes, and the knowledge levels of athletes who were not subjected to doping tests were lower than those of athletes who were subjected to doping tests.

Objectives: To report our experiences of the juvenile Behçet's disease (BD) patients with cerebral venous sinus thrombosis (CVST) and to review previous studies reporting the clinical characteristics and outcomes of juvenile BD with CVST., Methods: Clinical characteristics and outcomes of paediatric patients with CVST who met the Paediatric Behçet's Disease (PEDBD) classification criteria for juvenile BD from 3 referral centres in Turkey were reviewed retrospectively. A systematic review of literature of all published data was conducted., Results: The study group consisted of 12 juvenile BD patients with CVST. At the time of CVST diagnosis, the most common symptom was headache (100%), followed by vomiting (25%), blurred vision (16.7%), and disturbances in eye movements (16.7%). Six (50%) patients presented with CVST. Transverse sinus was the most frequently affected sinus (9/12, 75%) followed by superior sagittal sinus. The mean (±2SD) BDCAF at the CVST diagnosis was 6 (±3.8). Four children (33.3%) had another venous thrombosis apart from CVST. All patients received pulse methylprednisolone for three consecutive days continued with oral prednisolone. Steroid treatment was tapered and discontinued minimum in six months. Eleven patients received azathioprine concomitant to steroid treatment at the time of CVST. All the patients received anticoagulant therapy concomitantly. Only one patient who did not receive azathioprine relapsed. Median follow-up period was 4 years (IQR: 2-5.4). In the literature review, we identified nine articles, describing 35 pediatric CVST patients associated with BD. Thirty patients achieved remission, while five patients had residual neurologic deficit., Conclusions: Neuroimaging is very important in the diagnosis of NBD. We suggest that treatment with immunosuppressants and steroid treatment is essential to decrease the adverse events of corticosteroids in the pediatric population and decrease relapses. Further multicenter studies with prospective follow-up may guide us in better management of these patients.