Peculiar histological and ultrastructural skeletal muscle alterations in a patient with CMV infection and autoimmune myositis: case evaluation and brief literature review [0.03%]
CMV感染和自身免疫性肌炎患者骨骼肌的组织学和超微结构改变：病例分析及文献简述
Michela Ripolone,Laura Napoli,Vittorio Mantero et al.
Michela Ripolone et al.
We report the case of a young woman with CMV infection, high level of creatine kinase and myopathy. Electromyography showed a myopathic pattern. Muscle biopsy showed a marked increase of NADH enzymatic activity in the central area of almost...
Telemedicine applied to neuromuscular disorders: focus on the COVID-19 pandemic era [0.03%]
神经肌肉疾病远程医疗在新冠疫情期间的应用
Melania Giannotta,Cristina Petrelli,Antonella Pini
Melania Giannotta
Neuromuscular diseases are rare and usually chronic progressive disorders that require a multidisciplinary clinical evaluation and functional monitoring. The patient-physician relationship and therapies are also key elements to be provided....
A novel compound heterozygous mutation in PYGM gene associated with McArdle's disease [0.03%]
与McArdle病相关的PYGM基因新型复合杂合突变体
Salvatore Iacono,Antonino Lupica,Vincenzo Di Stefano et al.
Salvatore Iacono et al.
McArdle's disease is an autosomal recessive glycogenosis due to mutation in the myophosphorylase gene (PYGM) resulting in a pure myopathy. The clinical onset typically occurs in childhood with cramps, myalgia, and intolerance to physical ex...
Cardiac disorders worsen the final outcome in myasthenic crisis undergoing non-invasive mechanical ventilation: a retrospective 20-year study from a single center [0.03%]
心脏疾患加重重症肌无力危象患者的预后：一项单中心20年的回顾性研究
Erika Iori,Alessandra Ariatti,Marco Mazzoli et al.
Erika Iori et al.
The study was performed to evaluate the impact of cardiological disorders on the outcome of myasthenic crisis (MC) requiring ventilation. The study includes 90 cases admitted to the Neurology Unit of Modena, Italy (January 2000 - September ...
Temporary positive expiratory pressure (TPEP) as an alternative approach in the treatment of persistent atelectasis in a patient with Steinert disease: a case report [0.03%]
替代CPAP治疗Steinert病患者的持续性肺不张：病例报告
Antonietta Coppola,Anna Annunziata,Elena Sciarrillo et al.
Antonietta Coppola et al.
We describe the clinical case of a patient affected by Steinert disease with persistent dyspnea complicated by a complete obstructive atelectasis of left lower lung lobe. The atelectasis has been successfully treated using the TPEP machine,...
Frailties and critical issues in neuromuscular diseases highlighted by SARS-CoV-2 pandemic: how many patients are still "invisible"? [0.03%]
由SARS-CoV-2大流行引发的神经肌肉疾病中的脆弱性和关键问题：有多少患者仍然“看不见”？
Giulia Ricci,Francesca Torri,Francesca Bianchi et al.
Giulia Ricci et al.
Almost 90% of neuromuscular diseases (NMDs) are classified as rare diseases, defined as conditions affecting less than 5 individuals in 10.000 (0.05%). Their rarity and diversity pose specific challenges for healthcare and research. Epidemi...
Ambulatory Duchenne muscular dystrophy children: cross-sectional correlation between function, quantitative muscle ultrasound and MRI [0.03%]
杜氏肌营养不良患儿功能、肌肉声像图及MRI的横断面相关性研究
Hala Abdulhady,Hossam M Sakr,Nermine S Elsayed et al.
Hala Abdulhady et al.
Duchenne muscular dystrophy (DMD) is a progressive genetic muscle disease. Quantitative muscle ultrasound (US), muscle MRI, and functional tools are important to delineate characteristics of muscle involvement. We aimed to establish correla...
Early treatment with Ataluren of a 2-year-old boy with nonsense mutation Duchenne dystrophy [0.03%]
艾塔鲁恩治疗 nonsense 突变引起的杜氏肌营养不良患儿早期疗效观察
Ilaria Bitetti,Cinzia Mautone,Marianna Bertella et al.
Ilaria Bitetti et al.
Duchenne muscular dystrophy (DMD) is an X-linked myopathy caused by mutations, in most cases deletions and duplications, in the dystrophin gene. Point mutations account for 13% and stop codon mutations are even rarer. Ataluren was approved ...
BAG3-related myofibrillar myopathy: a further observation with cardiomyopathy at onset in pediatric age [0.03%]
儿童期发病以心肌病起病的BAG3相关肌纤维病变病一例报告
Gaia Scarpini,Maria Lucia Valentino,Melania Giannotta et al.
Gaia Scarpini et al.
Myofibrillar myopathies are a heterogeneous group of neuromuscular disorders characterized by degeneration of Z-disk, causing the disintegration of myofibrils. They may be caused by mutations in different genes, among these, the BAG3 gene (...
How to define and enhance diagnostic and assistance pathways in neuromuscular diseases during the COVID-19 pandemic: the concept of network [0.03%]
新冠肺炎流行期间神经系统疾病诊断和治疗途径的定义和改善：关于神经肌肉疾病的协作网概念论文
Guja Astrea,Gemma Marinella,Caterina Agosto et al.
Guja Astrea et al.
The main consequence of the COVID-19 pandemic has been to increase the distance between patients and their doctors and to limit the opportunities to compare experiences and clinical cases in the medical community. Based on this, we adopted ...