Neuromuscular Disorders最新文献_第10页

The 2025 version of the gene table of neuromuscular disorders (nuclear genome) 2025年版神经肌肉疾病基因表（核基因组）。

IF 2.7 4区医学

Neuromuscular Disorders Pub Date : 2025-01-01 DOI: 10.1016/j.nmd.2024.105261

Louise Benarroch , Gisèle Bonne , François Rivier , Vincent Procaccio , Dalil Hamroun

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Vienna WMS 2025 维也纳WMS 2025

IF 2.7 4区医学

Neuromuscular Disorders Pub Date : 2024-12-01 DOI: 10.1016/j.nmd.2024.105263

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ENMC Themed Workshop announcement ENMC主题工作坊公告

IF 2.7 4区医学

Neuromuscular Disorders Pub Date : 2024-12-01 DOI: 10.1016/j.nmd.2024.105262

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WMS General Information WMS一般信息

IF 2.7 4区医学

Neuromuscular Disorders Pub Date : 2024-12-01 DOI: 10.1016/j.nmd.2024.105264

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Muscle ultrasound as a key in assisting the diagnosis of neuromyotonia 肌肉超声作为辅助诊断神经性肌强直的关键

IF 2.7 4区医学

Neuromuscular Disorders Pub Date : 2024-11-15 DOI: 10.1016/j.nmd.2024.105243

Ujjawal Roy , Achal Kumar Srivastava , Michael S. Cartwright , Ajay Panwar , Viraat Harsh

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Respiratory function and evaluation in individuals with facioscapulohumeral muscular dystrophy in the Muscular Dystrophy Surveillance, Tracking and Research Network 肌肉萎缩症监测、跟踪和研究网络中面肩肱肌营养不良症患者的呼吸功能和评估。

IF 2.7 4区医学

Neuromuscular Disorders Pub Date : 2024-11-09 DOI: 10.1016/j.nmd.2024.105240

Katherine D Mathews , Jonathan Suhl , Kristin M Conway , Amy Moore , Joyce T. Alese , Russell J Butterfield , Paul A Romitti , the Muscular Dystrophy Surveillance, Tracking and Research Network (MD STARnet)

{"title":"Respiratory function and evaluation in individuals with facioscapulohumeral muscular dystrophy in the Muscular Dystrophy Surveillance, Tracking and Research Network","authors":"Katherine D Mathews , Jonathan Suhl , Kristin M Conway , Amy Moore , Joyce T. Alese , Russell J Butterfield , Paul A Romitti , the Muscular Dystrophy Surveillance, Tracking and Research Network (MD STARnet)","doi":"10.1016/j.nmd.2024.105240","DOIUrl":"10.1016/j.nmd.2024.105240","url":null,"abstract":"<div><div>Using data from the US population-based, multisite Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STAR<em>net</em>), we describe respiratory testing and insufficiency among people with facioscapulohumeral muscular dystrophy (FSHD) diagnosed during 2008-2016. We calculated frequencies and proportions for selected outpatient respiratory assessments (pulmonary function tests [PFTs], forced vital capacity (FVC), inspiratory/expiratory pressure, and polysomnograms) and abnormal test results. We examined frequencies by disease characteristics (FSHD type, ages of onset, non-ambulatory status, scoliosis, lordosis), obesity, and number of health encounters. Of 170 people with FSHD, 20.0% underwent PFTs during 2008-2016. Polysomnograms were infrequent (14.1%). FVC <80% predicted was recorded for 64.7% of people tested; additional respiratory outcomes were rare (<5%). Frequency of evaluations and respiratory insufficiency were higher among those with known risk factors and longer follow-up. We observed low proportions of respiratory testing among all confirmed cases of FSHD, but relatively high proportions of mild respiratory insufficiency among those tested. The higher proportions of testing among people with conditions that increase risk of respiratory complications suggest targeted monitoring. Broad implementation of the FSHD guidelines recommending all individuals receive baseline respiratory evaluation at diagnosis could identify respiratory insufficiency as a complication of FSHD.</div></div>","PeriodicalId":19135,"journal":{"name":"Neuromuscular Disorders","volume":"46 ","pages":"Article 105240"},"PeriodicalIF":2.7,"publicationDate":"2024-11-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142695779","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}

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Neuromyotonia in a 16-year-old female with dramatic improvement after IVIG therapy: Case report and literature review 一名 16 岁女性的神经肌张力障碍在接受 IVIG 治疗后得到显著改善：病例报告和文献综述。

IF 2.7 4区医学

Neuromuscular Disorders Pub Date : 2024-11-05 DOI: 10.1016/j.nmd.2024.105239

Omar Ketranji, Issa Alawneh, Asmaa Alenizi, Elisa Nigro, Michal S. Zimmer, Freddy Paiz, Hernan Gonorazky

{"title":"Neuromyotonia in a 16-year-old female with dramatic improvement after IVIG therapy: Case report and literature review","authors":"Omar Ketranji, Issa Alawneh, Asmaa Alenizi, Elisa Nigro, Michal S. Zimmer, Freddy Paiz, Hernan Gonorazky","doi":"10.1016/j.nmd.2024.105239","DOIUrl":"10.1016/j.nmd.2024.105239","url":null,"abstract":"<div><div>Neuromyotonia, also known as Isaac syndrome, is a rare neurological disorder characterized by continuous muscle activity, stiffness, and spontaneous muscle contractions, it is very rare in children. We report a 16-year-old female patient with neuromyotonia. She presented with pain, stiffness, autonomic symptoms and muscle myokymia in both lower limbs. The patient was treated with a short course of methylprednisolone, IVIG over the course of 4 weeks, and symptomatic management which resulted in a dramatic improvement and relief of symptoms. A literature review for pediatric patients with neuromyotonia was conducted revealing 10 reported cases so far. All pediatric patients with neuromyotonia showed favorable prognosis despite using different treatment modalities. Although the association between neuromyotonia and malignancy is known in adult population, this has not been seen in the reported pediatric cases. Indeed, given the scarcity of data, we still do recommend screening for malignancy in pediatric patients with neuromyotonia.</div></div>","PeriodicalId":19135,"journal":{"name":"Neuromuscular Disorders","volume":"46 ","pages":"Article 105239"},"PeriodicalIF":2.7,"publicationDate":"2024-11-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142681902","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}

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My second life with mechanical ventilation: A golden anniversary 我与机械通气的第二次生命黄金周年纪念

IF 2.7 4区医学

Neuromuscular Disorders Pub Date : 2024-11-05 DOI: 10.1016/j.nmd.2024.105241

E. Verhees , N.A.M. Cobben , R. van den Biggelaar , N.C. Voermans

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Genotype and corticosteroid treatment are distinctively associated with gray matter characteristics in patients with Duchenne muscular dystrophy 基因型和皮质类固醇治疗与杜氏肌营养不良症患者的灰质特征明显相关。

IF 2.7 4区医学

Neuromuscular Disorders Pub Date : 2024-11-01 DOI: 10.1016/j.nmd.2024.105238

Sam Geuens , Jeroen Van Dessel , Hermien E. Kan , Rosanne Govaarts , Erik H. Niks , Nathalie Goemans , Jurgen Lemiere , Nathalie Doorenweerd , Liesbeth De Waele

{"title":"Genotype and corticosteroid treatment are distinctively associated with gray matter characteristics in patients with Duchenne muscular dystrophy","authors":"Sam Geuens , Jeroen Van Dessel , Hermien E. Kan , Rosanne Govaarts , Erik H. Niks , Nathalie Goemans , Jurgen Lemiere , Nathalie Doorenweerd , Liesbeth De Waele","doi":"10.1016/j.nmd.2024.105238","DOIUrl":"10.1016/j.nmd.2024.105238","url":null,"abstract":"<div><div>This study investigated if structural variation in specific gray matter areas is associated with corticosteroid treatment or genotype, and if cerebral morphological variations are related to neuropsychological and behavioral outcomes. The CAT12 toolbox in SPM was used for MRI segmentations, assessing subcortical structures, cortical thickness, gyrification, and sulci depths for DMD patients (<em>n</em> = 40; 9–18 years) and age-matched controls (<em>n</em> = 40). Comparisons were made between DMD vs. controls, daily vs. intermittent corticosteroid treatment (<em>n</em> = 20 each), and Dp140<sup>+</sup> vs. Dp140<sup>-</sup> gene mutations (<em>n</em> = 15 vs. 25). MANCOVA, CAT12 3D statistics and Pearson correlations were conducted. DMD patients showed differences in volumes of distinct subcortical structures, left hemisphere cortical thickness, and gyrification in multiple brain areas compared with healthy controls. The daily treated DMD group exhibited differences in subcortical volumes and different patterns of cortical thickness, sulci depth, and gyrification compared to the intermittent treated DMD group. DMD Dp140<sup>+</sup> patients displayed altered gyrification and sulci depth compared to DMD Dp140<sup>-</sup> patients. Finally, we found correlations between neurobehavioral outcomes and brain areas that showed differences in cortical morphology associated with corticosteroid treatment. Both genotype and corticosteroid treatment are associated with variations in subcortical volumes and cortical morphology, albeit in different ways. Corticosteroid treatment appears to have a more profound association with differences in gray matter characteristics of brain regions that are associated with functional outcomes.</div></div>","PeriodicalId":19135,"journal":{"name":"Neuromuscular Disorders","volume":"45 ","pages":"Article 105238"},"PeriodicalIF":2.7,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142624804","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}

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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 : 2024-11-01 DOI: 10.1016/S0960-8966(24)01722-X

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