Concise review of end of life and palliative care in neuromuscular pathologies: still a long pathway ahead [0.03%]
神经肌肉病终末期和姑息治疗综述：仍然任重道远
Maria Luisa de Candia,Antonietta Coppola,Gualtiero Ermando Romano et al.
Maria Luisa de Candia et al.
Introduction: Neuromuscular diseases (NMD) include different types of diseases depending on the deficient component of the motor unit involved. They may all be interested by a progressive and sometimes irreversible pump r...
Practical recommendations for swallowing and speaking during NIV in people with neuromuscular disorders [0.03%]
神经肌肉疾病患者在使用无创通气时吞咽和说话的实际建议
Tiina Maarit Andersen,Lee Bolton,Michel Toussaint
Tiina Maarit Andersen
Objectives: The functions of eating, drinking, speaking, and breathing demand close coordination of the upper airway musculature which may be challenged by the long-term use of daytime non-invasive ventilation (NIV). This...
Nutrition therapy in non-intubated patients with acute respiratory failure: a narrative review [0.03%]
急性呼吸衰竭非插管患者的营养治疗：综述文章
Pierre Singer
Pierre Singer
Objectives: Non-invasive ventilation use is increasing in patients from acute respiratory failure. However, nutritional assessment and medical nutritional therapy are often missed and patients may be frequently underfed. ...
Indications and techniques of non-invasive ventilation (NIV) in neuromuscular diseases [0.03%]
非侵入性通气(NIV)在神经肌肉疾病中的应用及技术
Anna Annunziata,Antonietta Coppola,Francesca Simioli et al.
Anna Annunziata et al.
The neuromuscular patients may experience the need for respiratory support due to the onset of respiratory failure. Some skills are essential to achieve therapeutic success. In addition to technical knowledge, it is essential to have knowle...
Non-invasive mechanical ventilation in NeuroMuscular Disorders: Presentation of this special issue [0.03%]
神经肌肉疾病中的无创机械通气：本期专题介绍
Anna Annunziata,Giuseppe Fiorentino
Anna Annunziata
A rare co-occurrence of phosphorylase kinase deficiency (GSD type IXd) and alpha-glycosidase deficiency (GSD Type II) in a 53-year-old man presenting with an atypical glycogen storage disease phenotype [0.03%]
一名罕见同时存在磷酸化酶激酶缺乏症（V型糖原贮积病）和α-葡萄糖苷酶缺乏症（II型糖原贮积病）的53岁男性患者的非典型糖原贮积病表现分析
Esther Picillo,Maria Elena Onore,Luigia Passamano et al.
Esther Picillo et al.
Glycogen Storage Disease (GSD) IXd, caused by PHKA1 gene mutations, is an X-linked rare disorder that can be asymptomatic or associated with exercise intolerance. GSD type II is an autosomal recessive disorder caused by mutations in the GAA...
Treatment with ataluren in four symptomatic Duchenne carriers. A pilot study [0.03%]
ataluren治疗四位有症状的杜氏肌营养不良基因携带者患者的研究（一项初步研究）
Amir Dori,Marianna Scutifero,Luigia Passamano et al.
Amir Dori et al.
Duchenne muscular dystrophy (DMD) is a devastating X-linked neuromuscular disorder caused by dystrophin gene deletions (75%), duplications (15-20%) and point mutations (5-10%), a small portion of which are nonsense mutations. Women carrying...
Assessment of the quality of life in patients with LGMD. The case of transportinopathy [0.03%]
肢带型肌营养不良伴运输蛋白opathies患者生活质量评估：以transportinopathy为例
Corrado Angelini,Alicia Aurora Rodríguez
Corrado Angelini
The Quality of Life (QOL) is influenced by several disease-related factors, support, resources, expectations, and aspirations, within the disease-related concepts. The Individualized Neuromuscular Quality of Life (INQoL) is a validated musc...
Oscar Crisafulli,Angela Berardinelli,Giuseppe D&#x;Antona
Oscar Crisafulli
Hereditary proximal 5q Spinal Muscular Atrophy (SMA) is a severe neuromuscular disorder with onset mainly in infancy or childhood. The underlying pathogenic mechanism is the loss of alpha motor neurons in the anterior horns of spine, due to...
Efficacy of N-163 beta-glucan in beneficially improving biomarkers of relevance to muscle function in patients with muscular dystrophies in a pilot clinical study [0.03%]
N-163 β-葡聚糖在益处改善肌肉营养不良患者与肌肉功能相关生物标志物的初步临床研究中的疗效
Kadalraja Raghavan,Thanasekar Sivakumar,Koji Ichiyama et al.
Kadalraja Raghavan et al.
Background: Muscular dystrophies other than Duchenne muscular dystrophy (DMD) are genetic diseases characterized by increasing muscle weakness, loss of ambulation, and ultimately cardiac and respiratory failure. There are...