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 ...
Sergey N Bardakov,Vadim A Tsargush,Pierre G Carlier et al.
Sergey N Bardakov et al.
The widespread use of magnetic resonance imaging (MRI) in the diagnosis of myopathies has made it possible to clarify the typical MRI pattern of dysferlinopathy. However, sufficient attention has not been given to the variability of MRI pat...
Can symptomatic nmDuchenne carriers benefit from treatment with ataluren? Results of 193-month follow-up [0.03%]
ataluren治疗有症状的nm型杜氏肌营养不良携带者的效果如何？193个月的随访结果
Amir Dori,Michela Guglieri,Marianna Scutifero et al.
Amir Dori et al.
Duchenne's muscular dystrophy (DMD) is an X-linked neuromuscular disorder caused by deletions (75%), duplications (15-20%) and point mutations (5-10%) in the dystrophin gene. Among the latter, stop-codon point mutations are rare. Female car...
AUTOMA: a wearable device to assess the upper limb muscular activity in patients with neuromuscular disorders [0.03%]
用于评估神经肌肉疾病患者上肢肌肉活动的可穿戴设备AUTOMA
Mario Milazzo,Andrea Spezzaneve,Guja Astrea et al.
Mario Milazzo et al.
Inherited muscular dystrophies and congenital myopathies present in early childhood with progressive muscle weakness, determining severe motor limitations. Active surveillance and management of associated complications have improved ambulat...
Non-invasive mechanical ventilation as an alternative respiratory support during gastrostomy tube placement, in a patient with Duchenne muscular dystrophy, 24/24 hours ventilation dependent [0.03%]
杜氏肌营养不良患者在胃造口管置入过程中，作为呼吸支持的非侵入性机械通气替代方法（该患者依赖24/24小时通气）
Anna Annunziata,Rosa Cauteruccio,Emilio di Costanzo et al.
Anna Annunziata et al.
Patients with Duchenne muscular dystrophy may benefit from gastrostomy tube feeding due to progressive dysphagia and malnutrition. However, due to concomitant pathologies, they are often at high risk for anesthesiologic complications. We de...