Neuromuscular Disorders最新文献

Antisense oligonucleotide-mediated redirection of Igf1 alternative polyadenylation 反义寡核苷酸介导的Igf1选择性聚腺苷化重定向。

IF 2.7 4区医学

Neuromuscular Disorders Pub Date : 2025-06-01 DOI: 10.1016/j.nmd.2025.105394

Alper Yavas, Maaike van Putten, Yavuz Ariyurek, Annemieke Aartsma-Rus

{"title":"Antisense oligonucleotide-mediated redirection of Igf1 alternative polyadenylation","authors":"Alper Yavas, Maaike van Putten, Yavuz Ariyurek, Annemieke Aartsma-Rus","doi":"10.1016/j.nmd.2025.105394","DOIUrl":"10.1016/j.nmd.2025.105394","url":null,"abstract":"<div><div>Insulin-like growth factor-1 (IGF-1) has become an interesting potential therapeutic target for muscle wasting disorders, since it is known to modulate muscle growth and function. Alternative polyadenylation (APA) <em>Igf1</em> gives rise to 3′UTR isoforms with different stability and translation efficiency due to their length and context-dependent miRNA binding sites. <em>Igf1</em> transcripts with a shorter 3′UTRs are thought to be more stable and efficient during protein translation. Therefore, modulating the <em>Igf1</em> polyadenylation site usage would be a potential approach to increase IGF-1 protein expression. In this study, we first investigated the <em>Igf1</em> 3′UTR isoforms in exercised <em>mdx</em> and WT mice by full-length isoform sequencing. We then redirected the APA of <em>Igf1</em> from the distal to the proximal/middle polyadenylation sites to enhance the IGF-1 protein expression in mouse C2C12 myoblasts. Upon exercise, APA of <em>Igf1</em> was redirected towards the proximal polyadenylation site in the WT mice only (<em>P</em> < 0.05). Transfection of C2C12 cells with this AON resulted in redirection of the APA towards the proximal site and increased IGF-1 expression/AKT phosphorylation levels. Strong enrichment was found for genes involved in sarcomere organization, muscle cell development and calcium homeostasis. Our study reports the effect of downhill running exercise on the <em>Igf1</em> 3′UTRs in <em>mdx</em> and WT mice and provides an <em>in vitro</em> proof of principle for redirecting the <em>Igf1</em> poly(A) site usage as a strategy to increase protein expression without modifying the coding region of the gene, not only for IGF-1 but also for other targets with therapeutic potential in different conditions.</div></div>","PeriodicalId":19135,"journal":{"name":"Neuromuscular Disorders","volume":"51 ","pages":"Article 105394"},"PeriodicalIF":2.7,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144226061","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

History of the histopathology of the peripheral nerves 周围神经的组织病理学史。

IF 2.7 4区医学

Neuromuscular Disorders Pub Date : 2025-06-01 DOI: 10.1016/j.nmd.2025.105393

Stéphane Mathis , Mégane Le Quang , Marie-Laure Martin-Négrier , Jean-Michel Vallat

{"title":"History of the histopathology of the peripheral nerves","authors":"Stéphane Mathis , Mégane Le Quang , Marie-Laure Martin-Négrier , Jean-Michel Vallat","doi":"10.1016/j.nmd.2025.105393","DOIUrl":"10.1016/j.nmd.2025.105393","url":null,"abstract":"<div><div>The history of peripheral neuropathology, in particular the study of the normal nerve, spans centuries and involves significant contributions from many scientists and physicians. The earliest knowledge of nerves dates back to ancient Greece, accelerating from the 18th century onwards. This historical overview highlights the evolution of our understanding of peripheral nerves, from ancient theories to modern scientific discoveries, illustrating the collaborative and progressive nature of scientific progress. This article discusses various neurological theories such as “neuronal circulation” and the concept of “nerve fluid”, and explains the main stages in the description of the various principal structures of the normal peripheral nerve. It also explores the main steps of the historical evolution of peripheral neuropathology, focusing on the pathological analysis of peripheral nerves and various pathological key concepts (nerve degeneration, demyelination, nerve vasculitis, amyloid deposits, etc.). The development of microscopy techniques has significantly advanced our understanding of peripheral nerve histology and pathology. Early studies involved examining nerves from autopsies and later from living patients, leading to the establishment of nerve biopsy as a diagnostic tool. The article discusses the debate surrounding nerve biopsy techniques, including the choice of nerves and sampling methods.</div></div>","PeriodicalId":19135,"journal":{"name":"Neuromuscular Disorders","volume":"51 ","pages":"Article 105393"},"PeriodicalIF":2.7,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144225992","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

ENMC Mid-Career Mentoring Programme ENMC职业中期辅导计划

IF 2.7 4区医学

Neuromuscular Disorders Pub Date : 2025-06-01 DOI: 10.1016/S0960-8966(25)00134-8

引用次数: 0

WMS 2025 Vienna announcement WMS 2025维也纳公告

IF 2.7 4区医学

Neuromuscular Disorders Pub Date : 2025-06-01 DOI: 10.1016/j.nmd.2025.105418

引用次数: 0

A systematic review on motor outcome measures in congenital myopathy 先天性肌病运动预后指标的系统综述。

IF 2.7 4区医学

Neuromuscular Disorders Pub Date : 2025-06-01 DOI: 10.1016/j.nmd.2025.105392

Matthew Woods , Gemma Fisher , Sarah Johnson , Charlotte Lilien , Laurent Servais

{"title":"A systematic review on motor outcome measures in congenital myopathy","authors":"Matthew Woods , Gemma Fisher , Sarah Johnson , Charlotte Lilien , Laurent Servais","doi":"10.1016/j.nmd.2025.105392","DOIUrl":"10.1016/j.nmd.2025.105392","url":null,"abstract":"<div><div>Congenital myopathies (CMYOs) encompass a group of genetically heterogeneous rare muscle disorders with clinical features including hypotonia, muscle weakness leading to delayed or absent motor milestones, feeding and respiratory difficulties, and a myopathic facial appearance. CMYO categorisation includes: Nemaline Myopathy, Core Myopathy, Central Core Disease, Multi-Mini Core Disease, Congenital Fiber-type Disproportion Myopathy, Myosin Storage Myopathy, Centronuclear Myopathy, Myotubular Myopathy, X-linked Myotubular Myopathy, and Autosomal Centronuclear Myopathy. The aim of this systematic review is to evaluate the current evidence base of motor outcome measures used in the assessment of CMYO. Methodology was in accordance with the PRISMA 2020 guidelines and registered (PROSPERO CRD42024569701). Databases searched include PubMed, EMBASE, and Cochrane library. Peer reviewed, full-text, English language publications were included. The 31 articles included motor outcome measures of motor function, gross motor, muscle strength, and endurance. Twenty-six motor outcome measures were identified and all were found to have limited disease-specific metrics. This systematic review discussed motor outcome measure suitably in relation to disease characteristics and identified the lack of disease-specificity as the largest gap for future research.</div></div>","PeriodicalId":19135,"journal":{"name":"Neuromuscular Disorders","volume":"51 ","pages":"Article 105392"},"PeriodicalIF":2.7,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144226060","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 2025 Vienna Congress Flyer WMS 2025维也纳会议飞行器

IF 2.7 4区医学

Neuromuscular Disorders Pub Date : 2025-06-01 DOI: 10.1016/S0960-8966(25)00136-1

引用次数: 0

WMS 2025 Vienna Congress Information WMS 2025维也纳大会信息

IF 2.7 4区医学

Neuromuscular Disorders Pub Date : 2025-06-01 DOI: 10.1016/S0960-8966(25)00137-3

引用次数: 0

Clinical pearls and histopathological features help discriminate toxic rhabdomyolysis from immune-mediated necrotizing myopathy in statin-exposed patients 临床特征和组织病理学特征有助于区分他汀类药物暴露患者的中毒性横纹肌溶解和免疫介导的坏死性肌病。

IF 2.7 4区医学

Neuromuscular Disorders Pub Date : 2025-06-01 DOI: 10.1016/j.nmd.2025.105386

Benjamin Ellezam , Yves Troyanov , Océane Landon-Cardinal

{"title":"Clinical pearls and histopathological features help discriminate toxic rhabdomyolysis from immune-mediated necrotizing myopathy in statin-exposed patients","authors":"Benjamin Ellezam , Yves Troyanov , Océane Landon-Cardinal","doi":"10.1016/j.nmd.2025.105386","DOIUrl":"10.1016/j.nmd.2025.105386","url":null,"abstract":"<div><div>We have recently noted an increasing number of muscle biopsies performed to quickly rule out anti-HMGCR immune-mediated necrotizing myopathy (IMNM) in statin-treated patients with acute toxic rhabdomyolysis (TR). IMNM is a subacute to chronic progressive auto-immune myopathy diagnosed on clinical phenotype, serology and muscle biopsy, and TR is an acute potentially lethal condition usually diagnosed on clinical phenotype alone. Herein, we aimed to compare these muscle biopsies with a group of IMNM controls. Histopathological analysis of 36 biopsies from statin-exposed TR patients and 29 anti-HMGCR IMNM controls revealed overlapping morphologic patterns in 85 % of cases. Discriminating features highly suggestive of TR included predominance of acute necrotic fibers (<em>p</em> < 0.001), groups of 4+ adjacent necrotic fibers (<em>p</em> < 0.01), regenerative basophilic cuffs (<em>p</em> < 0.001), and lack of LC3<sup>+</sup> granular staining in non-necrotic fibers (<em>p</em> < 0.001). Review of clinical data revealed acute creatinine elevation in 94 % TR and none of IMNM controls. Creatine kinase levels (CKs) normalized on average in 12 days (range 8–21) in TR and in >30 days in all IMNM cases. Although pathology can be discriminating, TR should be confirmed by following CKs closely over a few days without immunosuppression and muscle biopsy only performed to confirm IMNM in patients with persistently elevated CKs.</div></div>","PeriodicalId":19135,"journal":{"name":"Neuromuscular Disorders","volume":"51 ","pages":"Article 105386"},"PeriodicalIF":2.7,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144226062","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

Corrigendum to “Assessing disease progression in Spinal Muscular Atrophy, current gaps, and opportunities: a narrative review” [NMD, volume 49, article 105341] “评估脊髓性肌萎缩症的疾病进展、目前的差距和机会：叙述性回顾”[NMD，第49卷，第105341条]的更正。

IF 2.7 4区医学

Neuromuscular Disorders Pub Date : 2025-06-01 DOI: 10.1016/j.nmd.2025.105391

R Muni-Lofra , G Coratti , T Duong , J Medina-Cantillo , M Civitello , A Mayhew , R Finkel , E Mercuri , C Marini-Bettolo , F Muntoni

引用次数: 0

Prevalence and prognostic impact of cardiac resonance abnormalities in myotonic dystrophy patients 强直性肌营养不良患者心脏共振异常的患病率及对预后的影响

IF 2.7 4区医学

Neuromuscular Disorders Pub Date : 2025-05-31 DOI: 10.1016/j.nmd.2025.105396

Vincenzo Russo , Alfredo Mauriello , Roberta Bottino , Antonio Giordano , Michal Marchel , Antonello D’Andrea , Théo Pezel , Gerardo Nigro , Santo Dellegrottaglie

引用次数: 0