Turk J Med Sci
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To measure the expression of 1α-hydroxylase (CYP27B1) and serum 25(OH)D concentration in systemic lupus erythematosus (SLE) and to investigate the role of CYP27B1 in SLE. ⋯ The expression of CYP27B1 in PBMCs may be related to SLE pathogenesis, disease activity, and nephritis.
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The purpose of the study was to cross-culturally adapt the Multiple Sclerosis Impact Scale-29 (MSIS-29) into Turkish and evaluate its reliability and validity in patients with Multiple Sclerosis (MS). ⋯ Turkish version of the MSIS-29 is a reliable and valid tool in individuals with MS.
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The aim of this study was to determine the prevalence of cardiovascular risk factors (CVRF) and the level of cardiovascular risk (CVR), determined with different scales (REGICOR, SCORE, ERICE, vascular age...) in people with low and normal weight. ⋯ All the CVRS analyzed showed higher values in the group of people with normal weight compared to those with underweight. Age, followed by sex, were the variables that most influence the appearance of high CVR values.
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Vitamin D, adropin, proinflammatory cytokines, and oxidative stress closely related with metabolic homeostasis and endothelial dysfunction. The aim of the present study is to investigate how vitamin D levels affect serum adropin, IL-1ß, IL-6, and oxidative stress. ⋯ Vitamin D could show its effects through vitamin D receptors on tissues or on the ENHO gene in adropin secreting tissues via direct or indirect mechanisms. Proinflammatory cytokines, oxidative stress, and adropin targeted studies could contribute to the prevention and treatment of diseases associated with vitamin D deficiency in future.
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The clinical, pathological, and genetic characteristics of lipid storage myopathy in northern China.
The lipid storage myopathy (LSM) diagnosis is based on the patient's clinical manifestations and muscle pathology. However, when genetic testing is lacking, there is a high rate of misdiagnosis of the disease. This study aimed to investigate the clinical and pathological features of genetically diagnosed LSM in northern China, analyze genetic mutations' characteristics, and improve the LSM diagnostic rate. ⋯ The clinical manifestations of LSM are complex and diverse, mainly manifested by proximal muscle weakness and exercise intolerance in the extremities. The pathological images of LSM muscles are abnormal storage of lipid droplets in muscle fibers, primarily involving type I fibers. The LSM patients were mainly multiple acyl-CoA dehydrogenase deficiency (MADD) caused by the ETFDH gene mutation. It is necessary to perform an accurate typing diagnosis of LSM.