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Neuromuscular Disorders最新文献

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Recommendations of an expert group for the cardiac assessment of non-dystrophic myotonia adult patients treated with mexiletine. 专家组对接受美西律汀治疗的非萎缩性肌张力障碍成年患者进行心脏评估的建议。
IF 2.7 4区 医学
Neuromuscular Disorders Pub Date : 2024-09-25 DOI: 10.1016/j.nmd.2024.104464
Savine Vicart, Karim Wahbi, Josselin Duchateau, Jean-Marc Sellal, Jean-François Desaphy, Jean-Claude Deharo, Guillaume Bassez, Emmanuelle Salort-Campana, Fabien Labombarda
{"title":"Recommendations of an expert group for the cardiac assessment of non-dystrophic myotonia adult patients treated with mexiletine.","authors":"Savine Vicart, Karim Wahbi, Josselin Duchateau, Jean-Marc Sellal, Jean-François Desaphy, Jean-Claude Deharo, Guillaume Bassez, Emmanuelle Salort-Campana, Fabien Labombarda","doi":"10.1016/j.nmd.2024.104464","DOIUrl":"https://doi.org/10.1016/j.nmd.2024.104464","url":null,"abstract":"<p><p>Mexiletine (NaMuscla™) is indicated for the symptomatic treatment of myotonia in adults with non-dystrophic myotonia. A cardiac assessment is required as mexiletine may have a pro-arrhythmic effect. Long-term safety data supporting the use of mexiletine in patients with non-dystrophic myotonia combined with the extensive clinical experience of an expert group resulted in creation of an algorithm for cardiac monitoring of patients treated with mexiletine. To define the treatment algorithm, several expert workshops including three neurologists, five cardiologists from different French neuromuscular reference centers and one pharmacologist from Italy were set up. These workshops aimed to define the screening and surveillance tools required to ensure the safe use of mexiletine in patients. The recommendations are based on the summary of product characteristics (SmPC), a review of the literature on the safety of mexiletine-treated patients with non-dystrophic myotonia, and the expertise of the authors. The expert group concluded that the cardiac safety profile of mexiletine in these patients appears to be similar to that in the general population. Therefore, patients with non-dystrophic myotonia treated with mexiletine should be monitored as per any patient with cardiac problems who are prescribed a class 1b anti-arrhythmic.</p>","PeriodicalId":19135,"journal":{"name":"Neuromuscular Disorders","volume":null,"pages":null},"PeriodicalIF":2.7,"publicationDate":"2024-09-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142378121","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
WMS General Information WMS 一般信息
IF 2.7 4区 医学
Neuromuscular Disorders Pub Date : 2024-09-11 DOI: 10.1016/S0960-8966(24)00942-8
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引用次数: 0
WMS 2024 Congress information WMS 2024 大会信息
IF 2.7 4区 医学
Neuromuscular Disorders Pub Date : 2024-09-11 DOI: 10.1016/S0960-8966(24)00941-6
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引用次数: 0
WMS 2024 Congress Flyer 2024 年世界移动通信大会传单
IF 2.7 4区 医学
Neuromuscular Disorders Pub Date : 2024-09-11 DOI: 10.1016/S0960-8966(24)00940-4
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引用次数: 0
ENMC Themed Workshop announcement ENMC 主题研讨会公告
IF 2.7 4区 医学
Neuromuscular Disorders Pub Date : 2024-09-11 DOI: 10.1016/S0960-8966(24)00939-8
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引用次数: 0
Upper limb function changes over 12 months in untreated SMA II and III individuals: an item-level analysis using the Revised Upper Limb Module 未经治疗的 SMA II 和 III 患者 12 个月内的上肢功能变化：使用修订版上肢模块进行的项目级分析
IF 2.8 4区 医学
Neuromuscular Disorders Pub Date : 2024-08-28 DOI: 10.1016/j.nmd.2024.08.006
Giorgia Coratti, Matthew Civitello, Annemarie Rohwer, Emilio Albamonte, Jacqueline Montes, Allan M Glanzman, Amy Pasternak, Roberto De Sanctis, Sally Dunaway Young, Tina Duong, Irene Mizzoni, Evelin Milev, Maria Sframeli, Simone Morando, Adele D'Amico, Michela Catteruccia, Noemi Brolatti, Marika Pane, Mariacristina Scoto, Sonia Messina, Michio Hirano, Zarazuela Zolkipli-Cunningham, Basil T Darras, Enrico Bertini, Claudio Bruno, Valeria A Sansone, Francesca Salmin, John Day, Giovanni Baranello, Maria Carmela Pera, Francesco Muntoni, Richard S. Finkel, Eugenio Mercuri, International SMA Consortium (iSMAc)
{"title":"Upper limb function changes over 12 months in untreated SMA II and III individuals: an item-level analysis using the Revised Upper Limb Module","authors":"Giorgia Coratti, Matthew Civitello, Annemarie Rohwer, Emilio Albamonte, Jacqueline Montes, Allan M Glanzman, Amy Pasternak, Roberto De Sanctis, Sally Dunaway Young, Tina Duong, Irene Mizzoni, Evelin Milev, Maria Sframeli, Simone Morando, Adele D'Amico, Michela Catteruccia, Noemi Brolatti, Marika Pane, Mariacristina Scoto, Sonia Messina, Michio Hirano, Zarazuela Zolkipli-Cunningham, Basil T Darras, Enrico Bertini, Claudio Bruno, Valeria A Sansone, Francesca Salmin, John Day, Giovanni Baranello, Maria Carmela Pera, Francesco Muntoni, Richard S. Finkel, Eugenio Mercuri, International SMA Consortium (iSMAc)","doi":"10.1016/j.nmd.2024.08.006","DOIUrl":"https://doi.org/10.1016/j.nmd.2024.08.006","url":null,"abstract":"The Revised upper limb module (RULM) has been increasingly used in clinical trials and in clinical settings. The aim of this study was to use the ‘shift analysis’ to assess the patterns of lost or gained abilities for each item on the RULM in an untreated cohort, stratified by SMA type, age, <ce:italic>SMN2</ce:italic> copy number, and motor functional status. The analysis was performed on 222 12-month paired assessments from 129 individuals (115 assessment from type II and 107 from type III) who had at least two assessments at yearly intervals. There was a loss of one or more activities in 54% in type II and in 29% type III. A gain of one or more activities was found in 42% type II and in 22% type III. There were concomitant gains and losses in 27% in SMA II and in 9% in SMA III. Our results, measuring the number of abilities that are lost or gained, provide an additional method of detecting changes that can be used for the interpretation of the longitudinal data collected in treated SMA individuals.","PeriodicalId":19135,"journal":{"name":"Neuromuscular Disorders","volume":null,"pages":null},"PeriodicalIF":2.8,"publicationDate":"2024-08-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142261214","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
26th Meryon Lecture St Anne's College, Oxford, 5th July 2024: FSHD: The long road to DUX4 第 26 届梅里恩讲座 牛津大学圣安妮学院，2024 年 7 月 5 日：前列腺增生症：通往 DUX4 的漫漫长路
IF 2.8 4区 医学
Neuromuscular Disorders Pub Date : 2024-08-23 DOI: 10.1016/j.nmd.2024.08.007
George W. Padberg
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引用次数: 0
WMS 2024 Congress information WMS 2024 大会信息
IF 2.7 4区 医学
Neuromuscular Disorders Pub Date : 2024-08-22 DOI: 10.1016/S0960-8966(24)00926-X
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引用次数: 0
WMS General Information WMS 一般信息
IF 2.7 4区 医学
Neuromuscular Disorders Pub Date : 2024-08-22 DOI: 10.1016/S0960-8966(24)00928-3
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引用次数: 0
ENMC Themed Workshop announcement ENMC 主题研讨会公告
IF 2.7 4区 医学
Neuromuscular Disorders Pub Date : 2024-08-22 DOI: 10.1016/S0960-8966(24)00924-6
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引用次数: 0
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