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Yang BZ Ding JH Zhou C Dimachkie MM Sweetman L Dasouki MJ Wilkinson J Roe CR 《Molecular genetics and metabolism》2000,69(3):259-262
A novel mutation was identified in two unrelated patients with medium-chain acyl-CoA dehydrogenase deficiency. First, a 19-year-old Caucasian female presented with a devastating illness, resulting in sudden death in adulthood which is unusual. The second patient, now a 3.5-year-old male, presented at 17 months of age with a hypoglycemic seizure and dehydration. Sequence analysis revealed a novel mutation G617T in exon 8 resulting in an arginine to leucine substitution at codon 206 (R206L). Both patients were compound heterozygous for this G617T and the common mutation A985G. 相似文献
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Pain is a common symptom in multiple sclerosis (MS) and has recently been estimated to be experienced by up to 75 % of patients. Pain can be present at any point in the course of the disease and patients may experience pain from various causes simultaneously. Pain in MS can also be secondary to other symptoms, such as spasticity, fatigue, and mood disorder. Of all drug use to treat MS symptoms, treatment for pain accounts for nearly 30 % of total use. At the same time, patients report low satisfaction with pain management. Pain affects quality of life and can influence a person’s participation in family life and work and affect mood. Most of the pain literature in the field of MS is based on open-label studies involving small numbers of subjects. Placebo-controlled trials in severe pain syndromes such as trigeminal neuralgia are unethical but for other types of MS-related pain conditions, placebo-controlled trials are ethical and necessary to establish efficacy, particularly given the well-documented placebo effect for various painful conditions This review discusses available data and emphasizes areas of pain research that require further attention 相似文献
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Amifampridine phosphate (Firdapse®) is effective and safe in a phase 3 clinical trial in LEMS
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Shin J Oh MD Natalya Shcherbakova MD Anna Kostera‐Pruszczyk MD PhD Mohammad Alsharabati MD Mazen Dimachkie MD Jose Munoz Blanco MD Thomas Brannagan MD Dragana Lavrnić MD PhD Perry B Shieh MD PhD Christophe Vial MD Andreas Meisel MD Samuel Komoly MD PhD DSc Benedikt Schoser MD Kumaraswamy Sivakumar MD Yuen So MD PhD LEMS Study Group 《Muscle & nerve》2016,53(5):717-725
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羟甲芬太尼(I)是一个新的高强度高选择性阿片μ受体激动剂。本文用cis-A-N-[1-(2-羟基-2-苯乙基)-3-甲基-4-哌啶基]-苯胺(II)或cis-N-[1-(苯甲酰甲基)-3-甲基-4-哌啶基]-苯胺(III)作为前体合成了[11C]-羟甲芬太尼,以便用正电子发射断层扫描(PET)来观察μ受体。通过水解cis-A-羟甲芬太尼(I)和cis-N-[1-(苯甲酰甲基)-3-甲基-4-哌啶]-N-苯基丙酰胺(cis-IV)的4-N-丙酰基分别获得II和III。溴乙烷的格氏试剂与回旋加速器产生的[11C]-二氧化碳反应后继而直接加入邻苯二甲酸二酰氯和2,6-二叔丁基吡啶生成同位素标记中间体[11C]-丙酰氯。[11C]-丙酰氯与OH-前体(II)反应后再经HPLC分离纯化直接得[11C]-羟甲芬太尼;[11C]-丙酰氯与酮-前体(III)反应后,再用硼氢化钠甲醇溶液处理,然后进行HPLC分离纯化得[11C]-羟甲芬太尼。两种方法均可获得ll.1~14.8GBq/μmol的特异性放射化学纯[11C]-羟甲芬太尼。总共耗时为40~50min(EOB)。 相似文献
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Rosie F. Adams Simon J. Ellis Joel Stein Richard W. Tim Donald B. Sanders Hirqki Takano Masami Tanaka Shoji Tsuji M. S. Wilcox A. Bilbao Tracy A. Park David R. Del Toro Sara G. Austin Miguel A. Pappolla Mazen Dimachkie Francine J. Vriesendorp Kazuo Miyoshi Kiichi Arahata DuKa Meh Miro Denili
J. Nico D. De Neeling Pieter J. Beks Frits W. Bertelsmann Robert J. Heine Lex M. Bouter Franz X. Glocker Günther Deuschl Carl H. Lücking Melinda K. Pascoe Peter L. Silbert Kathryn A. Stolp-Smith Yukio Ando Eiko Ando Makoto Vchino Masayuki Ando Joel Stein 《Muscle & nerve》1995,18(8):920-929
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