Management of cardiac involvement in muscular dystrophies: paediatric versus adult forms [0.03%]
肌营养不良症心肌受累的管理：儿科与成人形式的区别
Alberto Palladino,Paola D&#x;Ambrosio,Andrea Antonio Papa et al.
Alberto Palladino et al.
Muscular dystrophies are a group of genetic disorders characterized by muscle degeneration and consequent substitution by fat and fibrous tissue. Cardiac involvement is an almost constant feature in a great part of these diseases, as both p...
Genetic diagnosis as a tool for personalized treatment of Duchenne muscular dystrophy [0.03%]
遗传诊断在杜氏肌营养不良症个性化治疗中的作用
Luca Bello,Elena Pegoraro
Luca Bello
Accurate definition of genetic mutations causing Duchenne muscular dystrophy (DMD) has always been relevant in order to provide genetic counseling to patients and families, and helps to establish the prognosis in the case where the distinct...
Gabriele Siciliano,Filippo Maria Santorelli,Roberta Battini
Gabriele Siciliano
Voltage-directed cavo-tricuspid isthmus ablation using a novel ablation catheter mapping technology in a myotonic dystrophy type I patient [0.03%]
电压指导下的新型消融导管定位技术在进行第一型肌营养不良患者心房与三尖瓣环之间的房间隔消融手术中的应用
Vincenzo Russo,Anna Rago,Andrea Antonio Papa et al.
Vincenzo Russo et al.
A successful case of maximum voltage-directed cavo-tricuspid isthmus (CTI) ablation using a novel ablation catheter mapping technology in a myotonic dystrophy type I (DM1) patient is reported. The patient complained recurrent episodes of at...
Successful treatment of periodic paralysis with coenzyme Q10: two case reports [0.03%]
辅酶Q10成功治疗周期性瘫痪两例报告
Yuwei Da,Lin Lei,Karin Jurkat-Rott et al.
Yuwei Da et al.
Primary periodic paralyses (PPs) are autosomal dominant ion channel disorders characterized by episodic flaccid weakness associated with variations in serum potassium level. The main prophylactic therapy of choice for PPsis carbonic anhydra...
Increased heterogeneity of ventricular repolarization in myotonic dystrophy type 1 population [0.03%]
肌强直性营养不良1型患者心室复极异质性增加
Vincenzo Russo,Andrea Antonio Papa,Anna Rago et al.
Vincenzo Russo et al.
Sudden cardiac death in myotonic dystrophy type I (DM1) patients can be attributed to atrioventricular blocks as far as to the development of life-threatening arrhythmias which occur even in hearts with normal left ventricular systolic and ...
Family context in muscular dystrophies: psychosocial aspects and social integration [0.03%]
肌营养不良症的家庭环境：心理社会因素及社会融入
Lorenza Magliano,Luisa Politano
Lorenza Magliano
Muscular dystrophies (MDs) are degenerative diseases which may led to marked functional impairment and reduced life expectancy. Being caregivers of a loved one with MD may be both a rewarding and a demanding experience that may have relevan...
Learning disabilities in neuromuscular disorders: a springboard for adult life [0.03%]
神经肌肉疾病中的学习障碍：通向成人生活的跳板
Guja Astrea,Roberta Battini,Sara Lenzi et al.
Guja Astrea et al.
Although the presence of cognitive deficits in Duchenne muscular dystrophy or myotonic dystrophy DM1 is well established in view of brain-specific expression of affected muscle proteins, in other neuromuscular disorders, such as congenital ...
Eplerenone repolarizes muscle membrane through Na,K-ATPase activation by Tyr10 dephosphorylation [0.03%]
Eplerenone通过去磷酸化Tyr10激活Na,K-ATPase使肌膜复极化
Simon Breitenbach,Frank Lehmann-Horn,Karin Jurkat-Rott
Simon Breitenbach
Eplerenone, an aldosterone antagonist, repolarizes muscle membrane in-vitro and increases strength in-vivo in channelopathies. In Duchenne dystrophy, it is administered for cardiomyopathy. We studied its mechanism of action on skeletal musc...