Combined high flow nasal cannula and negative pressure ventilation as a novel respiratory approach in a patient with acute respiratory failure and limb-girdle muscular dystrophy [0.03%]
急性呼吸衰竭伴肩袖型肌营养不良患者的一项新型通气方法：高流量鼻导管与负压通气联合应用
Pasquale Imitazione,Anna Annunziata,Maurizia Lanza et al.
Pasquale Imitazione et al.
We describe the case of a 56-year-old-man with limb-girdle muscular dystrophy affected by acute hypercapnic failure secondary to pneumonia treated with high flow nasal cannula, intermittent abdominal ventilation, and negative pressure venti...
A novel DMD intronic alteration: a potentially disease-causing variant of an intermediate muscular dystrophy phenotype [0.03%]
DMD内含子的新变化：中间型肌营养不良表型的致病变异体
Ricardo Santin,Igor Araujo Vieira,Jean Costa Nunes et al.
Ricardo Santin et al.
Pathogenic germline variants in DMD gene, which encodes the well-known cytoskeletal protein named dystrophin, are associated with a wide range of dystrophinopathies disorders, such as Duchenne muscular dystrophy (DMD, severe form), Becker m...
Splicing mutation in TAZ gene leading to exon skipping and Barth syndrome [0.03%]
TAZ基因的拼接突变导致外显子跳读和巴尔泰综合征
Larysa Sivitskaya,Nina Danilenko,Iryna Motuk et al.
Larysa Sivitskaya et al.
Barth syndrome is a monogenic X-linked disorder characterized by cardiomyopathy, skeletal myopathy and neutropenia. It is caused by deficiency of cardiolipin and associated with mutations in the tafazzin gene (TAZ). A 3 years old boy with d...
Management of motor rehabilitation in individuals with muscular dystrophies. 1st Consensus Conference report from UILDM - Italian Muscular Dystrophy Association (Rome, January 25-26, 2019) [0.03%]
肌营养不良患者的运动康复管理：意大利肌肉营养不良协会（罗马，2019年1月25日至26日）达成的第一次共识会议报告
Maria Elena Lombardo,Elena Carraro,Cristina Sancricca et al.
Maria Elena Lombardo et al.
Muscular dystrophy (MD) is a group of neuromuscular diseases characterized by progressive muscle weakness due to various mutations in several genes involved in muscle structure and function. The age at onset, evolution and severity of the d...
Coexistence of myasthenia gravis and amyotrophic lateral sclerosis in a Bosnian male: an unusual clinical presentation [0.03%]
一名波斯尼亚男性重症肌无力和肌萎缩侧索硬化共存的病例报告：罕见临床表现
Renata Hodzic,Nermina Piric,Sanela Zukic et al.
Renata Hodzic et al.
Purpose: Myasthenia gravis (MG) and amyotrophic lateral sclerosis (ALS) are two different diseases. The coexistence of both of them is extremely rare and represents a diagnostic challenge which requires thoughtful interpr...
Genotype phenotype analysis in a family carrying truncating mutations in the titin gene [0.03%]
携带Titin基因截断突变家系的基因型表型分析
Leema Reddy Peddareddygari,Ada Baisre-de León,Raji P Grewal
Leema Reddy Peddareddygari
We report a family carrying a previously described truncating mutation, NM_001267550.2(TTN):c.107889del p.(Lys35963Asnfs*9) in exon 364, and a novel truncating mutation, NM_001267550.1:c.100704C > A p.(Tyr33568*) in exon 358 in the titin ge...
Daytime alternatives for non-invasive mechanical ventilation in neuromuscular disorders [0.03%]
神经肌肉疾病日间无创机械通气替代疗法
Anna Annunziata,Antonietta Coppola,Giorgio Emanuele Polistina et al.
Anna Annunziata et al.
Mechanical ventilation in recent years has benefited from the development of new techniques and interfaces. These developments allowed clinicians to offer increasingly personalised therapies with the combination of different complementary t...
Read-through approach for stop mutations in Duchenne muscular dystrophy. An update [0.03%]
Duchenne肌营养不良症(stop mutation)的读框移越疗法研究进展更新报告
Luisa Politano
Luisa Politano
Dystrophinopathies are allelic conditions caused by deletions, duplications and point-mutations in the DMD gene, located on the X chromosome (Xp21.2). Mutations that prematurely interrupt the dystrophin protein synthesis lead to the most se...
Management of respiratory complications and rehabilitation in individuals with muscular dystrophies: 1st Consensus Conference report from UILDM - Italian Muscular Dystrophy Association (Milan, January 25-26, 2019) [0.03%]
肌营养不良患者呼吸并发症的管理及康复：来自意大利肌肉萎缩症协会（米兰，2019年1月25日至26日）第1次共识会议的报告
Fabrizio Rao,Giancarlo Garuti,Michele Vitacca et al.
Fabrizio Rao et al.
Respiratory complications are common in the patient with muscular dystrophy. The periodic clinical and instrumental respiratory evaluation is extremely important. Despite the presence in the literature of updated guidelines, patient associa...
Muscle manifestations and CK levels in COVID infection: results of a large cohort of patients inside a Pandemic COVID-19 Area [0.03%]
COVID感染的肌痛表现和肌酸激酶水平：大流行期间疫区患者的结果分析
Anna De Rosa,Elena Pinuccia Verrengia,Ivan Merlo et al.
Anna De Rosa et al.
Objective: To investigate both muscular manifestations and CK levels in a large cohort of patients with COVID-19 infection and to determine whether hyperckemia is associated with morbidity and mortality. ...