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Evidence base for investigative and therapeutic modalities in chronic inflammatory demyelinating polyneuropathy and multifocal motor neuropathy. 慢性炎症性脱髓鞘性多神经病变和多灶性运动神经病变的调查和治疗方法的证据基础。
IF 2.6 Q3 Medicine Pub Date : 2022-02-01 Epub Date: 2022-01-10 DOI: 10.2217/nmt-2021-0015
Hendrik Stephan Goedee, Yusuf A Rajabally

Chronic inflammatory demyelinating polyneuropathy, its variants and multifocal motor neuropathy belong to a spectrum of peripheral nerve disorders with complex dysimmune disease mechanisms. Awareness of the unique clinical phenotypes but also heterogeneity between patients is vital to arrive at early suspicion and ordering appropriate tests. This includes requirements for optimal electrodiagnostic protocol, aimed to capture sufficient electrophysiologic evidence for relevant abnormalities, a case-based approach on the eventual need to further expand the diagnostic armamentarium and correct reading of their results. Considerable phenotypical variation, diverse combinations of abnormalities found on diagnostic tests and heterogeneity in disease course and treatment response, all contribute to widespread differences in success rates on timely diagnosis and optimal treatment. We aim to provide a practical overview and guidance on relevant diagnostic and management strategies, including pitfalls and present a summary of the relevant novel developments in this field.

慢性炎症性脱髓鞘性多神经病变及其变体和多灶性运动神经病变属于具有复杂免疫功能障碍疾病机制的周围神经疾病谱。了解独特的临床表型和患者之间的异质性对于早期怀疑和订购适当的测试至关重要。这包括对最佳电诊断方案的要求,旨在为相关异常捕获足够的电生理学证据,最终需要进一步扩大诊断设备并正确读取其结果的基于病例的方法。相当大的表型差异,诊断测试中发现的异常的不同组合以及疾病病程和治疗反应的异质性,都导致了及时诊断和最佳治疗成功率的广泛差异。我们的目标是提供有关诊断和管理策略的实用概述和指导,包括陷阱,并对该领域的相关新发展进行总结。
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引用次数: 0
Corrigendum. 有待纠正。
IF 2.6 Q3 Medicine Pub Date : 2022-02-01 Epub Date: 2022-01-10 DOI: 10.2217/nmt-2020-0021c1
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引用次数: 0
GOCOVRI® (amantadine) extended-release capsules in Parkinson's disease. GOCOVRI®(金刚烷胺)缓释胶囊治疗帕金森病
IF 2.6 Q3 Medicine Pub Date : 2022-02-01 Epub Date: 2021-12-17 DOI: 10.2217/nmt-2021-0028
Thomas Müller

Amantadine is an old, antiviral compound, which moderately improves motor behavior in Parkinson's disease. Its current resurgence results from an innovative, delayed uptake and extended release amantadine hydrochloride capsule, given at bedtime once daily. It is the only approved compound for reduction of involuntary movements, so called dyskinesia, in fluctuating orally levodopa treated patients. It additionally ameliorates 'OFF' intervals characterized by impaired motor behavior. These beneficial effects result from higher and more continuous brain delivery of amantadine. Future clinical research is warranted on preventive effects of this amantadine capsule combined with enzyme blockers of central monoamine oxidase B and peripheral catechol-O-methyltransferase on motor complications in orally levodopa treated patients, as all these pharmacological principles support the concept of continuous dopamine substitution.

金刚烷胺是一种古老的抗病毒化合物,可以适度改善帕金森病患者的运动行为。它目前的复苏源于一种创新的、延迟吸收和缓释的盐酸金刚烷胺胶囊,每天一次在睡前服用。它是唯一被批准的化合物,用于减少波动口服左旋多巴治疗患者的不自主运动,即所谓的运动障碍。它还能改善以运动行为受损为特征的“OFF”间隔。这些有益的效果是由于金刚烷胺的大脑输送量更高、更持续。金刚烷胺胶囊联合中枢单胺氧化酶B和外周儿茶酚- o -甲基转移酶阻断剂对口服左旋多巴患者运动并发症的预防作用有待进一步的临床研究,因为所有这些药理学原理都支持持续多巴胺替代的概念。
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引用次数: 2
Side effects that occurred early in people with multiple sclerosis during the first year of treatment with cladribine tablets: a plain language summary. 多发性硬化症患者在使用克拉德滨片治疗的第一年早期发生的副作用:简单的语言总结。
IF 2.6 Q3 Medicine Pub Date : 2022-02-01 Epub Date: 2022-01-12 DOI: 10.2217/nmt-2021-0041
Jiwon Oh, Bryan Walker, Gavin Giovannoni, Dominic Jack, Fernando Dangond, Axel Nolting, Julie Aldridge, Lori A Lebson, Thomas P Leist

People with multiple sclerosis (also shortened to MS) may have difficulties staying on treatment due to side effects. Cladribine tablets, approved for treating relapsing forms of MS, are given by mouth for four short periods over two years. The benefit of convenient dosing may be lost if side effects prevent people with MS from finishing their treatment. This is the summary of a study that examined side effects from cladribine tablets treatment in the first 12 weeks of two clinical studies called CLARITY and ORACLE-MS. Overall, 34.7% of participants who took cladribine tablets experienced drug-related side effects compared to 23.2% of participants who took placebo. Most side effects were mild and were seen in 54.8% of participants taking cladribine tablets and 59.1% taking the placebo. A low number of participants discontinued treatment due to side effects (1.6% of participants who took cladribine tablets; 1.4% of participants who took placebo). The researchers concluded that cladribine tablets are well-tolerated and people with MS are likely to complete the full treatment course. ClinicalTrials.gov NCT numbers: CLARITY study - NCT00213135 and ORACLE-MS study - NCT00725985.

患有多发性硬化症(也简称MS)的人可能会因为副作用而难以坚持治疗。克拉宾片剂被批准用于治疗复发型多发性硬化症,在两年多的时间里口服四次。如果副作用阻止多发性硬化症患者完成他们的治疗,方便的剂量可能会失去好处。这是一项研究的总结,该研究在CLARITY和ORACLE-MS两项临床研究的前12周内检查了克拉德滨片治疗的副作用。总的来说,服用克拉德滨片剂的参与者中有34.7%的人出现了药物相关的副作用,而服用安慰剂的参与者中这一比例为23.2%。大多数副作用是轻微的,服用克拉德里滨片剂的参与者中有54.8%的人出现了副作用,而服用安慰剂的参与者中有59.1%的人出现了副作用。少数参与者因副作用而停止治疗(服用克拉德滨片的参与者中有1.6%;1.4%的参与者服用安慰剂)。研究人员得出结论,克拉德滨片耐受性良好,多发性硬化症患者很可能完成整个疗程。ClinicalTrials.gov NCT编号:CLARITY研究- NCT00213135和ORACLE-MS研究- NCT00725985。
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引用次数: 2
COVID-19-associated encephalitis or Creutzfeldt-Jakob disease: a case report. covid -19相关脑炎或克雅氏病1例报告
IF 2.6 Q3 Medicine Pub Date : 2022-02-01 Epub Date: 2021-12-02 DOI: 10.2217/nmt-2021-0025
Gooya Tayyebi, Seyed Kazem Malakouti, Behnam Shariati, Leila Kamalzadeh

Background: Accurate diagnosis and management of patients with rapidly progressive dementia may be challenging during the COVID-19 pandemic, which has negatively influenced the diagnostic performances, medical resource allocation and routine care for all non-COVID-19 diseases. Case presentation: We herein present a case of a 57-year-old male with rapidly progressive cognitive decline, headache, diplopia, myalgia, unsteady gait, aggression, depression, insomnia, hallucinations and delusions of persecution. COVID-19-associated encephalitis was briefly considered as a differential diagnosis. However, this hypothesis was rejected upon further investigation. A final diagnosis of sporadic Creutzfeldt-Jakob disease was made. Conclusion: A timely and accurate diagnosis of Creutzfeldt-Jakob disease gives patients and their families the chance to receive a good standard of healthcare and avoid extensive evaluations for other conditions.

背景:COVID-19大流行期间,快速进展性痴呆患者的准确诊断和管理可能具有挑战性,这对所有非COVID-19疾病的诊断性能、医疗资源分配和常规护理产生了负面影响。病例介绍:我们在此报告一例57岁男性患者,其表现为认知能力快速进行性下降、头痛、复视、肌痛、步态不稳、攻击性、抑郁、失眠、幻觉和迫害妄想。与covid -19相关的脑炎曾被短暂视为鉴别诊断。然而,经过进一步的调查,这一假设被否定了。最后诊断为散发性克雅氏病。结论:克雅氏病的及时准确诊断使患者及其家属有机会接受良好的医疗保健,避免对其他疾病进行广泛的评估。
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引用次数: 8
MN-166 (ibudilast) in amyotrophic lateral sclerosis in a Phase IIb/III study: COMBAT-ALS study design. MN-166(布司特)在肌萎缩性侧索硬化症的IIb/III期研究:COMBAT-ALS研究设计。
IF 2.6 Q3 Medicine Pub Date : 2021-12-01 Epub Date: 2021-11-24 DOI: 10.2217/nmt-2021-0042
Björn Oskarsson, Nicholas Maragakis, Richard S Bedlack, Namita Goyal, Jenny A Meyer, Angela Genge, Cynthia Bodkin, Samuel Maiser, Nathan Staff, Lorne Zinman, Nicholas Olney, John Turnbull, Benjamin Rix Brooks, Emelia Klonowski, Malath Makhay, Seiichi Yasui, Kazuko Matsuda

Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease with motor neuron loss as a defining feature. Despite significant effort, therapeutic breakthroughs have been modest. MN-166 (ibudilast) has demonstrated neuroprotective action by various mechanisms: inhibition of proinflammatory cytokines and macrophage migration inhibitory factor, phosphodiesterase inhibition, and attenuation of glial cell activation in models of ALS. Early-phase studies suggest that MN-166 may improve survival outcomes and slow disease progression in patients with ALS. This article describes the rationale and design of COMBAT-ALS, an ongoing randomized, double-blind, placebo-controlled, multicenter Phase IIb/III study in ALS. This study is designed to evaluate the pharmacokinetics, safety and tolerability and assess the efficacy of MN-166 on function, muscle strength, quality of life and survival in ALS.

肌萎缩性侧索硬化症(ALS)是一种以运动神经元丧失为特征的神经退行性疾病。尽管付出了巨大的努力,但治疗方面的突破并不多。MN-166(布地司特)通过多种机制显示出神经保护作用:抑制促炎细胞因子和巨噬细胞迁移抑制因子,抑制磷酸二酯酶,减弱ALS模型中的胶质细胞活化。早期研究表明MN-166可能改善ALS患者的生存结果并减缓疾病进展。本文描述了COMBAT-ALS的基本原理和设计,这是一项正在进行的针对ALS的随机、双盲、安慰剂对照、多中心IIb/III期研究。本研究旨在评估MN-166的药代动力学、安全性和耐受性,并评估MN-166对ALS患者功能、肌力、生活质量和生存的影响。
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引用次数: 13
Repository corticotropin injection improves quality metrics in an observational study of multiple sclerosis relapse. 储存库促肾上腺皮质激素注射改善了多发性硬化症复发的观察性研究的质量指标。
IF 2.6 Q3 Medicine Pub Date : 2021-12-01 Epub Date: 2021-12-03 DOI: 10.2217/nmt-2021-0030
Jeffrey Kaplan, Tamara Miller, Matthew Baker, Bryan Due, Enxu Zhao

Aim: To determine whether clinicians evaluate American Academy of Neurology (AAN) quality metrics for patients with multiple sclerosis (MS) relapse and whether repository corticotropin injection (RCI) improves clinical and patient-reported outcomes associated with these metrics at 2 and 6 months after treatment. Methods: A multicenter, prospective, observational registry evaluating patients receiving RCI for MS relapse (N = 125) categorized data according to AAN quality metrics involving diagnosis, disability, fatigue, cognitive impairment, depression, and quality of life. Results: Clinicians assessed all 11 AAN quality metrics in patients with MS relapse. Disability, fatigue, cognitive impairment, depression, and quality of life outcomes improved with RCI therapy. Conclusion: RCI was associated with improved quality metrics, and AAN guidelines were followed during routine RCI treatment for MS relapse.

目的:确定临床医生是否评估美国神经病学学会(AAN)多发性硬化症(MS)复发患者的质量指标,以及储存库促肾上腺皮质激素注射(RCI)是否在治疗后2个月和6个月改善与这些指标相关的临床和患者报告的结果。方法:一项多中心、前瞻性、观察性注册研究,评估接受RCI治疗多发性硬化复发的患者(N = 125),根据AAN质量指标分类数据,包括诊断、残疾、疲劳、认知障碍、抑郁和生活质量。结果:临床医生评估了MS复发患者的所有11个AAN质量指标。残障、疲劳、认知障碍、抑郁和生活质量通过RCI治疗得到改善。结论:RCI与改善的质量指标相关,在MS复发的常规RCI治疗中遵循AAN指南。
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引用次数: 2
Tongue measurements and pharyngeal residue in amyotrophic lateral sclerosis. 肌萎缩性侧索硬化症患者的舌头测量和咽残液。
IF 2.6 Q3 Medicine Pub Date : 2021-12-01 Epub Date: 2021-11-08 DOI: 10.2217/nmt-2021-0027
Milena Magalhães Augusto, Roberta Gonçalves da Silva, Mario Emílio Teixeira Dourado Júnior, Juliana Fernandes Godoy, Leonardo Wanderley Lopes, Leandro Pernambuco

Aim: We aimed to analyze the relationship between tongue measurements and vallecular residue in patients with amyotrophic lateral sclerosis (ALS). Materials & methods: Twenty-one patients with ALS were assessed for posterior maximum tongue isometric pressure (PMTIP) and posterior tongue isometric endurance (PTIE) by the Iowa Oral Performance Instrument; vallecular residue after 10 ml of moderately thickened consistency by Fiberoptic Endoscopic Evaluation of Swallowing; and tongue thickness (TT) by ultrasonography. Results: PMTIP, PTIE and TT were decreased compared with the reference values for healthy individuals and were not different between patients with and without vallecular residue. Conclusion: In ALS, PMTIP, PTIE and TT are not good predictors of vallecular residue in the tested volume and food consistency.

目的:分析肌萎缩性侧索硬化症(ALS)患者舌廓尺寸与瓣膜残留的关系。材料与方法:采用爱荷华口腔性能仪对21例ALS患者进行舌后最大等距压力(PMTIP)和舌后等距耐力(PTIE)评估;10 ml中等增厚稠度后的小静脉残留纤维内镜吞咽评价;舌厚(TT)。结果:与健康人的参考值相比,ptip、PTIE和TT均有所降低,存在和不存在瓣膜残留的患者间无差异。结论:在ALS中,PMTIP、PTIE和TT不能很好地预测被测体积和食物稠度中的静脉残留。
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引用次数: 2
Sporadic Huntington's disease in the Philippines: a case report. 菲律宾散发性亨廷顿舞蹈病1例报告。
IF 2.6 Q3 Medicine Pub Date : 2021-12-01 Epub Date: 2021-11-17 DOI: 10.2217/nmt-2021-0023
Laurence Kristoffer J Batino, John Hiyadan, Debbie Liquete, Manolo Flores

Huntington's disease (HD) is an autosomal dominant neurodegenerative disorder with core clinical features of choreoathetosis, cognitive deficits and behavioral changes. It is a rare disorder, primarily affecting the Caucasian population, and rarely Asians. To date, there are only two reported, genetically proven familial HD cases in the Philippines. We present the case of a 39-year-old Filipino male with a 10-year history of progressive behavior and personality changes followed by cognitive decline and choreoathetotic movements. Neuroimaging showed atrophy of both caudate and putamen with putaminal rim sign. Genetic testing revealed a 47 CAG trinucleotide repeats in the Huntingtin gene; family history is negative. This is the first, genetically proven, sporadic and the third HD case in the Philippines. Despite its rarity, this report highlights the importance of including HD as a possible cause of adult-onset chorea among Filipinos.

亨廷顿舞蹈病(HD)是一种常染色体显性神经退行性疾病,其核心临床特征为舞蹈病、认知缺陷和行为改变。这是一种罕见的疾病,主要影响白种人,很少影响亚洲人。迄今为止,菲律宾仅报告了两例经基因证实的家族性HD病例。我们报告一名39岁菲律宾男性的病例,他有10年的进行性行为和人格改变史,随后出现认知能力下降和舞蹈运动失调。神经影像学显示尾状核及壳核萎缩伴壳核边缘征。基因检测显示亨廷顿基因中有47个CAG三核苷酸重复;家族史为阴性。这是菲律宾第一例经基因证实的散发性疟疾病例,也是第三例。尽管罕见,本报告强调了将HD作为菲律宾成人发病舞蹈病可能原因的重要性。
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引用次数: 0
The remote assessment of parkinsonism supporting the ongoing development of interventions in Gaucher disease. 帕金森病的远程评估支持戈谢病干预措施的持续发展。
IF 2.6 Q3 Medicine Pub Date : 2021-12-01 Epub Date: 2021-10-20 DOI: 10.2217/nmt-2021-0032
Abigail Louise Higgins, Marco Toffoli, Stephen Mullin, Chiao-Yin Lee, Sofia Koletsi, Micol Avenali, Fabio Blandini, Anthony Hv Schapira

Mutations in GBA which are causative of Gaucher disease in their biallelic form, are the most common genetic risk factor for Parkinson's disease (PD). The diagnosis of PD relies upon clinically defined motor features which appear after irreversible neurodegeneration. Prodromal symptoms of PD may provide a means to predict latent pathology, years before the onset of motor features. Previous work has reported prodromal features of PD in GBA mutation carriers, however this has been insufficiently sensitive to identify those that will develop PD. The Remote Assessment of Parkinsonism Supporting Ongoing Development of Interventions in Gaucher Disease (RAPSODI GD) study assesses a large cohort of GBA mutation carriers, to aid development of procedures for earlier diagnosis of PD.

GBA突变以双等位基因形式导致戈谢病,是帕金森病(PD)最常见的遗传危险因素。PD的诊断依赖于不可逆神经变性后出现的临床定义的运动特征。PD的前驱症状可能提供了一种预测潜伏病理的手段,在运动特征发生前几年。先前的研究报道了GBA突变携带者的PD前驱特征,然而,这对于识别那些将发展为PD的人来说还不够敏感。支持戈谢病干预措施持续发展的帕金森病远程评估(RAPSODI GD)研究评估了一大群GBA突变携带者,以帮助开发PD的早期诊断程序。
{"title":"The remote assessment of parkinsonism supporting the ongoing development of interventions in Gaucher disease.","authors":"Abigail Louise Higgins,&nbsp;Marco Toffoli,&nbsp;Stephen Mullin,&nbsp;Chiao-Yin Lee,&nbsp;Sofia Koletsi,&nbsp;Micol Avenali,&nbsp;Fabio Blandini,&nbsp;Anthony Hv Schapira","doi":"10.2217/nmt-2021-0032","DOIUrl":"https://doi.org/10.2217/nmt-2021-0032","url":null,"abstract":"<p><p>Mutations in <i>GBA</i> which are causative of Gaucher disease in their biallelic form, are the most common genetic risk factor for Parkinson's disease (PD). The diagnosis of PD relies upon clinically defined motor features which appear after irreversible neurodegeneration. Prodromal symptoms of PD may provide a means to predict latent pathology, years before the onset of motor features. Previous work has reported prodromal features of PD in <i>GBA</i> mutation carriers, however this has been insufficiently sensitive to identify those that will develop PD. The Remote Assessment of Parkinsonism Supporting Ongoing Development of Interventions in Gaucher Disease (RAPSODI GD) study assesses a large cohort of <i>GBA</i> mutation carriers, to aid development of procedures for earlier diagnosis of PD.</p>","PeriodicalId":19114,"journal":{"name":"Neurodegenerative disease management","volume":null,"pages":null},"PeriodicalIF":2.6,"publicationDate":"2021-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39531419","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 2
期刊
Neurodegenerative disease management
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