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首页> 外文期刊>Journal of clinical neuromuscular disease >Prevalence of Vitamin D Deficiency in Spring and Summer Months in Central Pennsylvania Neuromuscular Clinic: A Study Complementary to the Pilot Study Published in Journal of Clinical Neuromuscular Disease in June 2015 for Fall and Winter Months.
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Prevalence of Vitamin D Deficiency in Spring and Summer Months in Central Pennsylvania Neuromuscular Clinic: A Study Complementary to the Pilot Study Published in Journal of Clinical Neuromuscular Disease in June 2015 for Fall and Winter Months.

机译：宾夕法尼亚州中部神经肌肉诊所春季和夏季月份维生素D缺乏症的患病率：这项研究与2015年6月秋冬季月份发表在《临床神经肌肉疾病杂志》上的先导研究相辅相成。

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One of the first questions asked by patients and family members when a diagnosis of amyotrophic lateral sclerosis is made is "what about stem cells?" The term "stem cells" has attractiveness to it, with the assumption that stem cell treatment (stem nerve cells) can replace lost nerve cells. There are perhaps 2 types of stem cell trials, those that are vetted by the Food and Drug Administration and those that have no official oversight and whose results are infrequently published. The issue of the latter was discussed in the last edition of this column. The results of one of the formal stem cell trials now in the United States have been reported. Spinal muscular atrophy is a form of motor neuron disease affecting children and has a genetic cause, which has led to a feasibility study giving antisense oligonucleotides, and the results have also been reported. Biomarkers of amyotrophic lateral sclerosis are being sought, and the presence of neurofilaments is promising. Inflammatory neuropathies are an important group because they are treatable. Intravenous immune globulin is a commonly used agent, but a number of questions persist: one is efficacy among brands, another is the probability of a response, and a third is optimum dosing and taper schedules. A number of recent articles address these issues. The predictive value of single-fiber electromyography in determining which patients with ocular myasthenia will develop generalized disease, the risk of crisis after thymectomy, and 2 papers discussing new forms of congenital myasthenic syndrome are discussed. The risk of brain tumors, quality of life, and the assessment of trunk muscle strength in patients with type 1 myotonic dystrophy is reviewed. An article describing the discovery of mutations in SCN4A as a cause of congenital myopathy is discussed, as is one describing the occurrence of rhabdomyolysis in a group of patients subsequently discovered to have various forms of muscular dystrophy. Finally, articles describing the features of patients with inflammatory myopathies and Jo-1 and either 3-hydroxy-3-methylglutaryl-conezymea reductase or to signal recognition particle antibodies are reviewed.
机译：在诊断出肌萎缩性侧索硬化症时，患者及其家属首先提出的问题之一是“干细胞是什么？”假设干细胞治疗（干神经细胞）可以替代失去的神经细胞，则术语“干细胞”具有吸引力。可能有两种类型的干细胞试验，一种是由美国食品药品监督管理局（FDA）审查的，另一种是没有官方监督的，其结果很少发表。在本专栏的上一版中讨论了后者的问题。现在已经报道了美国一项正式的干细胞试验的结果。脊髓性肌萎缩症是一种影响儿童的运动神经元疾病的形式，并具有遗传原因，这导致了进行反义寡核苷酸研究的可行性，并且还报道了结果。正在寻找肌萎缩性侧索硬化的生物标志物，并且神经丝的存在是有希望的。炎性神经病是一个重要的群体，因为它们可以治愈。静脉内免疫球蛋白是一种常用的药物，但仍然存在许多问题：一个是品牌之间的功效，另一个是反应的可能性，第三是最佳的剂量和减量方案。最近的许多文章都针对这些问题。单纤维肌电图对确定哪些眼肌无力患者会发展为全身性疾病，胸腺切除术后发生危机的风险的预测价值，并讨论了2篇讨论新型先天性肌无力综合征的论文。 1型强直性肌营养不良患者脑肿瘤的风险，生活质量和躯干肌力量的评估进行了审查。讨论了一篇描述SCN4A突变是先天性肌病病因的发现的文章，以及描述后来发现患有各种形式的肌营养不良症的一组患者横纹肌溶解发生的文章。最后，综述了描述炎症性肌病和Jo-1和3-羟基-3-甲基戊二烯基-结膜还原酶或信号识别颗粒抗体的患者特征的文章。

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