نتایج جستجو برای: metabolic myopathy
تعداد نتایج: 230155 فیلتر نتایج به سال:
Synonyms: MmD, Multi-minicore disease, Minicore myopathy, Multicore myopathy, Multiminicore myopathy, Minicore myopathy with hand involvement, antenatal onset minicore myopathy with arthrogryposis, Minicore myopathy with external ophthalmoplegia, Multicore myopathy with external ophthalmoplegia, Multiminicore disease with external opthalmoplegia, SEPN1-related congenital muscular dystrophy, rig...
Dermatomyositis is an idiopathic inflammatory myopathy, with skin manifestations. A less frequently recognized but clinically important complication of dermatomyositis is lipodystrophy (LD), and associated metabolic abnormalities that increasingly recognized as complications of juvenile dermatomyositis. Lipodystrophy is less frequently reported in adult onset dermatomyositis.In this paper we ar...
Osteomalacia is a metabolic bone disease in a mature individual, caused by lack of vitamin D or its active metabolites, on account of a number of factors. Osteomalacia is common in females and in countries with less sun shine. It typically presents with body aches, weakness, alongwith signs of bone tenderness and proximal myopathy. Diagnosis is made on the basis of clinical presentation and inv...
hereditary inclusion body myopathy (hibm) is an adult-onset hereditary myopathy, usually with distal onset and quadriceps sparing. this myopathy is autosomal recessive and associated to upd-n-acetylglucosamine-2-epimerase/n-acetylmannosamine kinase (gne) gene mutations. in this study, we report a novel gne homozygous point mutation c.1834t>g that results in amino acid substitution of cysteine 6...
IMPORTANCE To our knowledge, the efficacy of transferring next-generation sequencing from a research setting to neuromuscular clinics has never been evaluated. OBJECTIVE To translate whole-exome sequencing (WES) to clinical practice for the genetic diagnosis of a large cohort of patients with limb-girdle muscular dystrophy (LGMD) for whom protein-based analyses and targeted Sanger sequencing ...
Emerging data suggest that the 3-hydroxy-3-methylglutaryl coenzyme A (HMG-CoA) reductase inhibitors (statins) offer important benefits for the large population of individuals at high risk for coronary heart disease. This population encompasses a sizable portion of individuals who are also at high risk for drug-drug interactions due to their need for multiple medications. In general, statins are...
The article presents a review of the scientific literature containing data on features neuropsychiatric disorders – complications from nervous system against background viral load caused by SARS-CoV-2 COVID-19. Indirect effects virus such as encephalopathy, myopathy, and critical neuropathy can be hypoxia, respiratory metabolic acidosis, dysregulation homeostasis due to organ failure, autoimmun...
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