COMBINED CLINICAL, VIRAL, AND IMMUNOLOGICAL STUDIES OF NEUROMUSCULAR DISEASES

进行临床和实验室研究以确定病因 （感染、免疫和/或遗传）的慢性疾病 神经肌肉系统和设计有效的治疗方法。目前的研究 涉及多发性肌炎~皮肌炎、脊髓灰质炎后患者 综合征，肌萎缩侧索硬化症（ALS），脱髓鞘 多发性神经病，与HIV感染相关的神经肌肉疾病， 低钾性周期性麻痹和杜氏肌营养不良症。 本文通过一系列的实验，探讨了脊髓灰质炎后综合征的发病机制。 电生理学、病毒学、免疫学和组织学研究。 的 这些结果与急性麻痹患者的结果进行了比较。 脊髓灰质炎和其他运动神经元疾病。 持续性或突变性 使用组织培养物在这些患者的组织中寻找脊髓灰质炎病毒， PCR和原位杂交。 因为异常的免疫调节 在一些患者中发现，一项双盲安慰剂对照试验， 进行泼尼松治疗。 脊髓灰质炎后疲劳的机制 许多患者的常见和致残症状，正在研究中。 的 一系列与HIV感染相关的神经肌肉疾病， 研究和病毒在神经病变或 用多种免疫细胞化学研究来研究肌病， 原位杂交和PCR。 抗逆转录病毒药物AZT 导致一种独特的肌病，其特征是异常的线粒体， 由各种形态学、分子学、生物化学和 免疫细胞化学研究。 艾滋病病毒感染者的纵向研究 服用AZT时出现肌病症状的患者， 一系列肌肉活检，以评估与 肌病的发展。 因为AZT~肌病患者 肌肉肉毒碱：口服左旋肉毒碱的临床对照试验 现在进行。 高剂量组进行随机对照临床试验 静脉注射免疫球蛋白 多发性肌炎~皮肌炎，慢性炎症和副蛋白血症 脱髓鞘性多发性神经病、ALS和杜氏肌营养不良症。 使用二氯苯酰胺（一种碳酸酐酶）的对照研究 抑制剂，也在低钾血症周期性 瘫痪

Clinical and laboratory studies are conducted to determine etiology (infection, immunity and~or genetics) of chronic diseases of the neuromuscular system and design effective therapies. Current studies involve patients with polymyositis~dermatomyositis, post~polio syndrome, amyotrophic lateral sclerosis (ALS), demyelinating polyneuropathies, neuromuscular diseases associated with HIV infection, hypokalemic periodic paralysis and Duchenne muscular dystrophy. The pathogenesis of post~polio syndrome is explored with a series of electrophysiologic, virologic, immunologic and histologic studies. The findings are compared with those seen in patients with acute paralytic poliomyelitis and other motor neuron diseases. Persistent or mutant poliovirus is sought in these patients' tissues using tissue cultures, PCR, and in situ hybridization. Because abnormal immunoregulation was found in some patients, a double~blind placebo~controlled trial using prednisone was conducted. The mechanism of post~polio fatigue, a common and disabling symptom in many patients, is under study. The spectrum of neuromuscular disorders associated with HIV infection has been studied and the role of the virus in the cause of neuropathy or myopathy is investigated with a variety of immunocytochemical studies, in situ hybridization and PCR. The antiretroviral drug AZT was found to cause an unique myopathy characterized by abnormal mitochondria as determined by various morphologic, molecular, biochemical and immunocytochemical studies. A longitudinal study of HIV~positive patients that develop myopathic symptoms while on AZT is conducted with serial muscle biopsies to assess factors associated with the development of myopathy. Because patients with AZT~myopathy have low muscle carnitine, a controlled clinical trial using oral L~ carnitine is now conducted. Randomized~controlled clinical trials are conducted with high~dose intravenous immunoglobulin in patients with polymyositis~dermatomyositis, chronic inflammatory and paraproteinemic demyelinating polyneuropathies, ALS and Duchenne muscular dystrophy. A controlled study using Dichlorophenamide, a carbonic anhydrase inhibitor, is also conducted in patients with hypokalemic periodic paralysis.