Neuromuscular Disorders最新文献_第5页

Chronic pain as a presenting feature of dysferlinopathy 慢性疼痛是异ferlin病的一个表现特征。

IF 2.7 4区医学

Neuromuscular Disorders Pub Date : 2025-01-01 DOI: 10.1016/j.nmd.2024.105269

Lucia Sanchez - Casado , Teresinha Evangelista , Juliette Nectoux , Camille Verebi , Tanya Stojkovic

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The relationship between patient-reported and clinician-assessed outcome measures in Inclusion body myositis - insights from a retrospective cohort study 包涵体肌炎患者报告和临床评估结果之间的关系——来自回顾性队列研究的见解。

IF 2.7 4区医学

Neuromuscular Disorders Pub Date : 2025-01-01 DOI: 10.1016/j.nmd.2024.105272

Madeline Schopp , Kelly Beer , Ian Cooper , Kathryn Hird , Althea Doverty , Annik Panicker , Katie Schütze , Anna Brusch , Merrilee Needham

{"title":"The relationship between patient-reported and clinician-assessed outcome measures in Inclusion body myositis - insights from a retrospective cohort study","authors":"Madeline Schopp , Kelly Beer , Ian Cooper , Kathryn Hird , Althea Doverty , Annik Panicker , Katie Schütze , Anna Brusch , Merrilee Needham","doi":"10.1016/j.nmd.2024.105272","DOIUrl":"10.1016/j.nmd.2024.105272","url":null,"abstract":"<div><div>Inclusion body myositis (IBM) is an inflammatory myopathy, characterised by slow progression of weakness, skeletal muscle atrophy, and heterogeneous clinical presentation. This variability in disease progression and presentation complicates tracking of clinical progress and intervention response in clinical trials, presenting challenges in identifying reliable outcome measures. We aimed to identify the most useful suite of clinician-assessed and patient-reported outcome measures (PROMs) for use in clinical practice and trials from a selection of the most commonly used outcome measures in IBM. We retrospectively analysed clinician-assessed outcome measures (manual muscle testing (MMT8, MMT12)), right- and left-handed grip strength, modified timed up and go (mTUG), two-minute walk test (2MWT); a clinician-administered patient-reported tool (IBM Functional Rating Scale (IBMFRS)); and PROMs including the eating assessment tool (EAT-10), and neuromuscular symptom score (NSS) from 20 participants attending a single specialist myositis clinic in Perth, Australia. Correlation analysis revealed significant correlations between the IBMFRS, MMT8, MMT12, mTUG and 2MWT (<em>p</em> < 0.05). The NSS strongly correlated with the MMT8, MMT12 and 2MWT (<em>p</em> < 0.05). Univariate regression analyses revealed that 2MWT, MMT12 and mTUG were significant predictors of the IBMFRS and NSS, and backward stepwise linear regression highlighted that the 2MWT was a significant positive predictor for the IBMFRS (<em>p</em> < 0.001). Overall, we concluded that the IBMFRS, NSS, 2MWT and mTUG models were the best predictors of patient-perceived physical function in IBM.</div></div>","PeriodicalId":19135,"journal":{"name":"Neuromuscular Disorders","volume":"46 ","pages":"Article 105272"},"PeriodicalIF":2.7,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142971371","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

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ENMC Themed Workshop announcement

IF 2.7 4区医学

Neuromuscular Disorders Pub Date : 2025-01-01 DOI: 10.1016/j.nmd.2025.105301

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Holter electrocardiography findings in Fukuyama congenital muscular dystrophy 福山先天性肌营养不良症的动态心电图表现。

IF 2.7 4区医学

Neuromuscular Disorders Pub Date : 2025-01-01 DOI: 10.1016/j.nmd.2024.105273

Ryo Sugiyama , Eri Takeshita , Yuko Shimizu-Motohashi , Hirofumi Komaki

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The 2025 version of the gene table of neuromuscular disorders (nuclear genome)

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

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

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

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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