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...
Impact of the COVID-19 pandemic on rehabilitation setting. Part 1: professionals' views on the changes in routine care provided by a rehabilitation centre for patients with muscle diseases [0.03%]
COVID-19大流行对康复环境的影响。第1部分：肌肉疾病患者的康复中心日常护理变化的专业观点
Giulia Citarelli,Ciro Garofalo,Maria Grazia Esposito et al.
Giulia Citarelli et al.
The outbreak of COVID-19 has forced the health care system to undergo profound rearrangements in services and facilities, especially during the periods of lockdown. In this context, inpatient and outpatient services had to rethink and reorg...
Diagnosis and treatment of pneumonia, a common cause of respiratory failure in patients with neuromuscular disorders [0.03%]
神经肌肉疾病患者呼吸衰竭常见原因肺炎的诊断和治疗
Novella Carannante,Anna Annunziata,Antonietta Coppola et al.
Novella Carannante et al.
Patients with neuromuscular diseases, during their illness are more susceptible to respiratory infections due to predisposing factors. Ineffective cough and the presence of atelectasis and hypoventilation, dysphagia and drooling can represe...
Shaun Ivan Muzic,Matteo Paoletti,Francesca Solazzo et al.
Shaun Ivan Muzic et al.
Purpose: To assess the reproducibility of a manual muscle MRI segmentation method that follows a specific set of recommendations developed in our center. ...
Unmet needs on the management of COVID-19 vaccination in patients with neuromuscular disorders [0.03%]
神经肌肉疾病患者COVID-19疫苗管理方面的未满足需求
Vincenzo Russo,Luisa Politano
Vincenzo Russo
COVID-19 outbreak has quickly reached alarming morbidity and mortality with vaccines being the only weapon to fight. Although the critical situation, no international guidelines on the vaccination management of patients with neuromuscular d...
Francesca Torri,Greta Ali,Lucia Chico et al.
Francesca Torri et al.
Anti-3-hydroxy-3-methylglutaryl-coenzyme A reductase (HMGCR) related myositis is a form of immune-mediated necrotizing myopathy (IMNM). Anti-HMGCR autoantibodies target HMGCR, a glycoprotein linked to the endoplasmic reticulum implied in th...