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Characteristics of Triple Seronegative Myasthenia Gravis: A Single Center Experience 三重血清阴性重症肌无力的特征:单中心经验
Pub Date : 2022-03-11 DOI: 10.17161/rrnmf.v3i1.14989
J. Morena, B. Jiang, M. Freimer, J. Hoyle, Bakri H. Elsheikh, D. Arnold, S. Lorusso
Background: There is variability in the literature regarding the characteristics of triple seronegative myasthenia gravis (SNMG) patients. Most studies were performed before LRP4 antibodies were discovered, and characterizations of triple seronegative patients are lacking in the literature. Methods: We retrospectively investigated patients diagnosed with myasthenia gravis (MG) at Ohio State University from 2009 to 2019. Triple SNMG was defined by a history and examination that was consistent with MG and positive SFEMG, RNS or edrophonium testing, but negative serology for AChR, MUSK, and LRP4 antibodies. Results: A total of 210 AChR+, 9 MuSK+, 6 LRP4+, 9 double SNMG, and 21 triple SNMG patients were reviewed. Triple SNMG patients required significantly fewer immunosuppressive agents compared with AChR+ patients (p=0.0001) and a trend towards a less frequent history of hospitalizations, myasthenic crises and intubations compared to all antibody positive groups. Triple SNMG patients had a significantly higher frequency of ocular disease (33%) compared to AChR+ patients (13%) (p=0.0250). One triple and one double SNMG patient had thymic hyperplasia and improved after thymectomy. 11 triple SNMG patients had negative genetic testing for CMS. Conclusion: Our results further elucidate the clinical characteristics of triple SNMG, which include the predominance for ocular disease and a less severe disease course. Although likely rare, investigation for thymic pathology should be a consideration even in SNMG, and thymectomy should be considered when there is thymic pathology. We did not find alternate diagnoses in SNMG patients and thus ancillary testing should be considered in carefully selected patients for cost-effective care.
背景:关于三重血清阴性重症肌无力(SNMG)患者的特征在文献中存在差异。大多数研究是在LRP4抗体被发现之前进行的,文献中缺乏对三血清阴性患者的描述。方法:回顾性调查2009年至2019年俄亥俄州立大学诊断为重症肌无力(MG)的患者。三重SNMG的定义是病史和检查与MG和阳性SFEMG、RNS或edrophonium检测一致,但AChR、MUSK和LRP4抗体的血清学阴性。结果:共回顾了210例AChR+、9例MuSK+、6例LRP4+、9例双SNMG、21例三SNMG患者。与AChR阳性患者相比,三重SNMG患者需要的免疫抑制剂明显减少(p=0.0001),并且与所有抗体阳性组相比,住院史、肌无力危象和插管的频率更低。与AChR+患者(13%)相比,三重SNMG患者的眼部疾病发生率(33%)显著高于AChR+患者(13%)(p=0.0250)。1例三期和1例双期SNMG患者胸腺增生,胸腺切除术后有所改善。11例三联SNMG患者CMS基因检测阴性。结论:我们的结果进一步阐明了三重SNMG的临床特点,以眼部疾病为主,病程较轻。虽然可能罕见,但即使在SNMG中也应考虑胸腺病理检查,当有胸腺病理时应考虑胸腺切除术。我们没有在SNMG患者中发现替代诊断,因此在精心挑选的患者中应该考虑辅助检测以获得成本效益的护理。
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引用次数: 0
Asymmetrical Onset of Leg Amyotrophic Diplegia (LAD): A Case Report 腿肌萎缩性双瘫(LAD)发病不对称1例
Pub Date : 2022-03-11 DOI: 10.17161/rrnmf.v3i1.15640
R. Khodabandehlou
Progressive muscular atrophy (PMA) comprises approximately 10% of patients with motor neuron disease (MND). Some of the patients presenting initially as PMA will develop when followed over time upper motor neuron findings leading to the diagnosis of ALS. True PMA cases represent a pure lower motor neuron presentation of sporadic motor neuron disease and are in a spectrum with ALS and PLS. While PMA typically affects both the arms and legs, some patients have predominantly upper extremity involvement and others may have selective leg weakness referred to respectively as brachial amyotrophic diplegia (BAD) 1,2 and leg amyotrophic diplegia (LAD).3 These cases of progressive muscle atrophy remain restricted to a body region for extended periods. These are considered slow regional variants of motor neuron disease. LAD is a leg onset variant of progressive muscular atrophy (PMA). LAD weakness is confined to the legs for at least 2 years, and there are no upper motor neuron signs.4A LMN syndrome confined to legs LAD was first described by Pierre Marie and his student Patrikios in 1918 and was known as the pseudopolyneuritic variant of ALS, the Marie-Patrikios form, or the peroneal form of ALS.Here is another case of LAD for the neuromuscular literature.
进行性肌肉萎缩(PMA)约占运动神经元疾病(MND)患者的10%。一些最初表现为PMA的患者会随着时间的推移而发展为上运动神经元,从而导致ALS的诊断。真正的PMA病例表现为散发性运动神经元疾病的纯粹下肢运动神经元表现,属于ALS和PLS的频谱。虽然PMA通常影响手臂和腿部,但一些患者主要累及上肢,其他患者可能有选择性腿部无力,分别称为肱肌萎缩性双瘫(BAD) 1,2和腿肌萎缩性双瘫(LAD) 3这些进行性肌肉萎缩的病例仍然限制在一个身体区域很长一段时间。这些被认为是运动神经元疾病的缓慢区域变异。LAD是进行性肌萎缩症(PMA)的一种腿部发病变体。LAD无力至少持续2年,且无上运动神经元征象。1918年,Pierre Marie和他的学生Patrikios首次描述了LMN综合征,被称为ALS的假性多神经炎变体,即Marie-Patrikios型或腓骨型ALS。这是另一例LAD的神经肌肉文献。
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引用次数: 0
A rare potential cause of mononeuropathy multiplex: LYG Mononeuropathy multiplex 多发性单神经病变罕见的潜在病因:LYG多发性单神经病变
Pub Date : 2022-03-11 DOI: 10.17161/rrnmf.v2i5.15711
T. Fullam, J. Jacobsohn, Swathy Chandrashekhar, Omar Jawdat, M. Dimachkie
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引用次数: 0
Timing of Decremental Response During Repetitive Nerve Stimulation in Myasthenia Gravis 重症肌无力患者重复神经刺激过程中衰减反应的时间
Pub Date : 2022-03-11 DOI: 10.17161/rrnmf.v3i1.15216
Gloria Ortiz Guerrero, A. Heim, M. Pasnoor, L. Herbelin, Omar Jawdat, Melanie D. Glenn, J. Statland, D. Jabari, C. Farmakidis, R. Barohn
Background: A decrement >10% detected during repetitive nerve stimulation (RNS) is supportive of considering a diagnosis of myasthenia gravis (MG). Several studies have found that most of this decrement is seen between 4 to 6 min post-exercise. However, there are not available studies analyzing if shorter timing would be sufficient.   Objective: The objective of this study was to evaluate if RNS up to 2 min post-exercise is sufficient to detect a decrement response >10%. Methods: We performed a retrospective chart review study of patients referred to our neuromuscular clinic at The University of Kansas Medical Center with symptoms suggestive of MG from 2013 to 2017. Results: A total of 76 patients with MG and 100 controls were identified.  A significant decrement was detected in 95% of MG patients with abnormal RNS within 2 minutes post-exercise. Conclusion: RNS up to 2 min post-exercise might be sufficient to detect a significant decrement in MG patients. 
背景:在重复神经刺激(RNS)中检测到>10%的减少,支持考虑重症肌无力(MG)的诊断。几项研究发现,这种下降主要发生在运动后4到6分钟。然而,目前还没有研究分析更短的时间是否就足够了。目的:本研究的目的是评估运动后2分钟的RNS是否足以检测到10%的衰减反应。方法:我们对2013年至2017年在堪萨斯大学医学中心神经肌肉诊所就诊的伴有MG症状的患者进行了回顾性图表回顾研究。结果:共有76例MG患者和100例对照。95% RNS异常的MG患者在运动后2分钟内出现显著下降。结论:运动后2分钟的RNS可能足以检测MG患者的显著减少。
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引用次数: 0
Effect of 3,4-diaminopyridine phosphate in symptomatic SOD1-G93A mice 3,4-二氨基吡啶磷酸对SOD1-G93A症状小鼠的影响
Pub Date : 2022-03-11 DOI: 10.17161/rrnmf.v2i5.15641
Swathi Beladakere Ramaswamy, J. Stanford, S. Iyadurai, R. Govindarajan, R. Barohn
Objective: To study the effect of 3,4-diaminopyridine phosphate (3,4-DAPP) on body weight, grip strength, neurological score and survival in symptomatic SOD1-G93A mice.   Method: We administered 3,4-diaminopyridine phosphate (3,4-DAPP) at 0, 8, and 16 mg/kg to SOD1-G93A mice 5 days/week beginning at 90 days of age. We measured body weight, grip strength, neurological score and survival in this model of ALS.   Results: 3,4-DAPP had no influence on body weight, grip strength, neurological score or survival in this transgenic mouse model.   Conclusion: Our study showed that 3,4-DAPP administration had no effects on survival, body weight, grip strength and neurological score of mice with SOD1 mutation. Since the results of this study are of limited significance, larger animal studies are required to investigate the utility of 3,4-DAPP.
目的:研究3,4-磷酸二氨基吡啶(3,4- dapp)对SOD1-G93A症状小鼠体重、握力、神经系统评分及生存的影响。方法:从90日龄开始,以0、8、16 mg/kg的剂量给SOD1-G93A小鼠3,4-二氨基吡啶磷酸(3,4- dapp) 5天/周。我们测量了这个ALS模型的体重、握力、神经学评分和生存率。结果:3,4- dapp对小鼠体重、握力、神经学评分及存活均无影响。结论:我们的研究表明,3,4- dapp给药对SOD1突变小鼠的生存、体重、握力和神经学评分没有影响。由于本研究的结果意义有限,需要更大规模的动物研究来调查3,4- dapp的效用。
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引用次数: 0
Black History Month: Remembering a Pioneer in Medicine 黑人历史月:纪念一位医学先驱
Pub Date : 2022-03-11 DOI: 10.17161/rrnmf.v3i1.16443
R. Barohn
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引用次数: 0
Steps in Inclusion Body Myositis 包涵体肌炎的步骤
Pub Date : 2021-12-20 DOI: 10.17161/rrnmf.v2i5.15839
T. Trevor, H. Kushlaf
Not applicable. This is a poem. 
不适用。这是一首诗。
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引用次数: 0
Practice patterns in the management of myasthenia gravis: a cross-sectional survey of neurologists in the United States 重症肌无力管理的实践模式:美国神经科医生的横断面调查
Pub Date : 2021-12-20 DOI: 10.17161/rrnmf.v2i5.15806
V. Bril, Jacqueline A Palace, T. Mozaffar, D. Gelinas, E. Brauer, Paul Nisbet, G. Wolfe
Background: Management of myasthenia gravis (MG), a rare immunoglobulin G autoantibody–mediated neuromuscular junction disorder, is driven by physician experience. To gain insight into current practices and physician needs, neurologists’ use of guidelines and disease activity evaluations to manage MG was assessed. Methods: In November and December of 2020, a quantitative, cross-sectional, 51-item, online survey–based study was used to collect data from 100 community neurologists, from 31 US states, who treat MG. Differences across ratio variables were analyzed via Chi-square and t tests, at a significance level of P<0.05. Results: Of respondents, 76% reported using clinical judgment rather than guidelines to inform treatment decisions, and only 29% reported awareness of the updated 2020 International Consensus Guidance for Management of Myasthenia Gravis. Treatment patterns reported include use of prednisone-equivalent corticosteroid doses ≤10 mg/day for ≥6 months (76% of respondents). When corticosteroids are contraindicated or after failure of an initial nonsteroidal immunosuppressant therapy (NSIST), immunoglobulin therapy is the respondents’ preferred initial treatment in patients with acetylcholine receptor antibody–positive generalized MG (vs a second NSIST). Respondents expressed interest in more guidance on crisis management, initiating/titrating maintenance medications, and managing patients with comorbidities. Conclusions: Respondents to this survey reported varied approaches to MG management and, in some clinical settings, heavier reliance on clinical judgment than on available consensus-based guidance. Also observed was potential underutilization of NSISTs in patients for whom corticosteroids are contraindicated, with reliance, instead, on immunoglobulin.
背景:重症肌无力(MG)是一种罕见的免疫球蛋白G自身抗体介导的神经肌肉连接障碍,其治疗是由医生经验驱动的。为了深入了解当前的实践和医生的需求,对神经科医生使用指南和疾病活动评估来管理MG进行了评估。方法:在2020年11月和12月,采用了一项定量、横断面、51项在线调查的研究,收集了来自美国31个州的100名治疗MG的社区神经科医生的数据。比值变量间差异分析采用卡方检验和t检验,P<0.05为显著水平。结果:在受访者中,76%的人报告使用临床判断而不是指南来指导治疗决策,只有29%的人报告了解最新的2020年重症肌无力管理国际共识指南。报告的治疗模式包括使用强的松等效皮质类固醇剂量≤10mg /天,持续≥6个月(76%的应答者)。当皮质类固醇是禁忌症或初始非甾体免疫抑制剂治疗(nist)失败后,免疫球蛋白治疗是应答者对乙酰胆碱受体抗体阳性的广泛性MG患者的首选初始治疗(与第二种nist相比)。受访者表示有兴趣获得更多关于危机管理、启动/滴定维持药物和管理合并症患者的指导。结论:本次调查的应答者报告了MG管理的各种方法,在一些临床环境中,对临床判断的依赖比现有的基于共识的指导更严重。还观察到,在皮质类固醇禁忌症患者中,nist的潜在利用不足,而依赖于免疫球蛋白。
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引用次数: 1
Methotrexate Use in Generalized Autoimmune Myasthenia Gravis: A Case series 甲氨蝶呤在广泛性自身免疫性重症肌无力中的应用:一个病例系列
Pub Date : 2021-12-20 DOI: 10.17161/rrnmf.v2i5.15795
Preston Eibling, Yuebing Li, R. Marquardt
Methotrexate (MTX) is an inexpensive and well-tolerated immunosuppressive medication that is used anecdotally in autoimmune myasthenia gravis (MG). However, the efficacy in MG is unclear at this time. This retrospective analysis describes six patients with acetylcholine receptor antibody positive MG who were treated with MTX and corticosteroids. The efficacy of MTX was measured by steroid-sparing effect and the Myasthenia Gravis Foundation of America (MGFA) classification. MTX initiation was associated with a reduction in prednisone dosage in all patients. Minimal manifestation status was reached at an average duration of 10 months in 5 patients.  No patients were hospitalized for myasthenia gravis exacerbations. There were no major side effects experienced with MTX use.  This retrospective analysis suggests that MTX is safe and probably efficacious as a corticosteroid-sparing agent in the management of MG.
甲氨蝶呤(MTX)是一种廉价且耐受性良好的免疫抑制药物,用于自身免疫性重症肌无力(MG)。然而,目前MG的疗效尚不清楚。本回顾性分析描述了6例乙酰胆碱受体抗体阳性MG患者接受甲氨蝶呤和皮质类固醇治疗。MTX的疗效通过类固醇节约效应和美国重症肌无力基金会(MGFA)分级来衡量。在所有患者中,MTX起始治疗与泼尼松剂量减少相关。5例患者平均病程10个月达到最小表现状态。没有患者因重症肌无力加重而住院。使用甲氨蝶呤没有明显的副作用。这一回顾性分析表明,甲氨蝶呤是安全的,可能是有效的皮质类固醇保留剂在管理MG。
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引用次数: 0
FDA approves Alzheimer's drug against the recommendation of its scientific panel. Be very concerned. FDA不顾科学小组的建议批准了阿尔茨海默症药物。要非常关注。
Pub Date : 2021-12-20 DOI: 10.17161/rrnmf.v2i5.15979
Joshua Freeman, MD
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引用次数: 0
期刊
RRNMF Neuromuscular Journal
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