Neuromuscular Disorders最新文献_第9页

ENMC Themed Workshop announcement ENMC主题工作坊公告

IF 2.7 4区医学

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

引用次数: 0

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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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

引用次数: 0

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

引用次数: 0

WMS General Information WMS一般信息

IF 2.7 4区医学

Neuromuscular Disorders Pub Date : 2024-12-01 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

引用次数: 0

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}

引用次数: 0

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}

引用次数: 0