Neuromuscular Disorders最新文献

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

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

引用次数: 0

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

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 : 2024-11-01 DOI: 10.1016/S0960-8966(24)01720-6

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 2.7 4区医学

Neuromuscular Disorders Pub Date : 2024-11-01 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 , Eugenio Mercuri

{"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 , Eugenio Mercuri","doi":"10.1016/j.nmd.2024.08.006","DOIUrl":"10.1016/j.nmd.2024.08.006","url":null,"abstract":"<div><div>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, <em>SMN2</em> 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.</div></div>","PeriodicalId":19135,"journal":{"name":"Neuromuscular Disorders","volume":"44 ","pages":"Article 104449"},"PeriodicalIF":2.7,"publicationDate":"2024-11-01","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":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

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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 2.7 4区医学

Neuromuscular Disorders Pub Date : 2024-11-01 DOI: 10.1016/j.nmd.2024.08.007

George W. Padberg

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WMS General Information WMS 一般信息

IF 2.7 4区医学

Neuromuscular Disorders Pub Date : 2024-11-01 DOI: 10.1016/S0960-8966(24)01725-5

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Acute weakness and elevated creatine kinase levels associated with coxsackievirus infection in LAMA2-related muscular dystrophy 与 LAMA2 相关性肌营养不良症患者柯萨奇病毒感染有关的急性乏力和肌酸激酶水平升高。

IF 2.7 4区医学

Neuromuscular Disorders Pub Date : 2024-10-28 DOI: 10.1016/j.nmd.2024.105237

Wui-Kwan Wong , Denise Warner , Richard Webster

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