Tıp Fakültesi / Faculty of Medicine
Permanent URI for this collectionhttps://hdl.handle.net/11727/1403
Browse
2 results
Search Results
Item Bi-Allelic Loss-Of-Function OBSCN Variants Predispose Individuals to Severe Recurrent Rhabdomyolysis(2021) Aydin, Halil Ibrahim; https://orcid.org/0000-0001-7994-4394; 34957489; AHD-1839-2022Rhabdomyolysis is the acute breakdown of skeletal myofibres in response to an initiating factor, most commonly toxins and over exertion. A variety of genetic disorders predispose to rhabdomyolysis through different pathogenic mechanisms, particularly in patients with recurrent episodes. However, most cases remain without a genetic diagnosis. Here we present six patients who presented with severe and recurrent rhabdomyolysis, usually with onset in the teenage years; other features included a history of myalgia and muscle cramps. We identified 10 bi-allelic loss-of-function variants in the gene encoding obscurin (OBSCN) predisposing individuals to recurrent rhabdomyolysis. We show reduced expression of OBSCN and loss of obscurin protein in patient muscle. Obscurin is proposed to be involved in sarcoplasmic reticulum function and Ca2+ handling. Patient cultured myoblasts appear more susceptible to starvation as evidenced by a greater decreased in sarcoplasmic reticulum Ca2+ content compared to control myoblasts. This likely reflects a lower efficiency when pumping Ca2+ back into the sarcoplasmic reticulum and/or a decrease in Ca2+ sarcoplasmic reticulum storage ability when metabolism is diminished. OSBCN variants have previously been associated with cardiomyopathies. None of the patients presented with a cardiomyopathy and cardiac examinations were normal in all cases in which cardiac function was assessed. There was also no history of cardiomyopathy in first degree relatives, in particular in any of the carrier parents. This cohort is relatively young, thus follow-up studies and the identification of additional cases with bi-allelic null OBSCN variants will further delineate OBSCN-related disease and the clinical course of disease. Cabrera-Serrano et al. show that biallelic loss-of-function variants in the gene encoding obscurin (OBSCN) predispose individuals to recurrent and severe episodes of rhabdomyolysis, typically with onset in the teenage years.Item Vitamin D Related Musculoskeletal System Findings(2015) Sarifakioglu, Banu; Yalbuzdag, Seniz Akcay; Guzelant, Aliye Yildirim; Afsar, Sevgi Ikbali; Ustaomer, KubraObjective: The effect of vitamin D on bone metabolism has been well known for a long time. Recently, various hormonal and immunity related effects has have been obtained. Additionally, the deficiency of vitamin D is thought to be related with various pain syndromes. In this study, we aimed to investigate the main musculoskeletal symptoms of patients with vitamin D deficiency admitting to physical medicine and rehabilitation clinics. Materials and Methods: The data were retrospectively investigated in patients with myalgia, arthralgia, regional pain, widespread body pain (WBP) and in whom vitamin D levels were measured. Patients over 50 years old and with known osteoporosis/osteomalacia diagnosis, endocrinological pathology, and inflammatory rheumatological disease were excluded. Results: The data of 571 patients were investigated and totally 214 of them were included in the study. There were 178 females (83.2%), 36 males (16.8%). The mean age of the patients was 39.19 +/- 9.58 years. Of the patients, 100 (46.7%) were in severe deficiency, 68 (31.8%) were in deficiency, 46 (21.5%) were in insufficient group. The symptoms were regional pain in 65 (30.3%), WBP in 63 (29.4%), arthralgia in 49 (23%), and myalgia in 37 (17.3%) patients. Conclusion: Vitamin D deficiency may be encountered as musculoskeletal problems. In the presence of persistent joint-muscle pain, regional pain and fibromiyalgia, vitamin D deficiency should be kept in mind.