Integrated care of muscular dystrophies in Italy. Part 2. Psychological treatments, social and welfare support, and financial costs [0.03%]
意大利杜氏肌营养不良综合护理（下）：心理治疗、社会福利及经济成本分析
Lorenza Magliano,Marianna Scutifero,Melania Patalano et al.
Lorenza Magliano et al.
This paper describes the psycho-social treatments received by 502 patients with MDs and their relatives, and the costs for care sustained by the families in the previous six month period. Data were collected by the MD-Care Schedule (MD-CS) ...
Effect on lung function of mounthpiece ventilation in Steinert disease. A case report [0.03%]
Steinert病口唇通气对肺功能影响的病例报告
Anna Annunziata,Giuseppe Fiorentino,Antonio Esquinas
Anna Annunziata
In patients with muscular dystrophies both muscle length tension relationship changes and muscle elasticity and plasticity are decreased, resulting in impaired inspiratory muscle function and decreased vital capacity. Furthermore, the loss ...
Congenital myasthenic syndrome: phenotypic variability in patients harbouring p.T159P mutation in CHRNE gene [0.03%]
先天性重症肌无力综合征：CHRNE基因p.T159P杂合突变患者的表型变异
Anna Ardissone,Isabella Moroni,Pia Bernasconi et al.
Anna Ardissone et al.
Congenital myasthenic syndromes (CMS) are rare and heterogeneous genetic diseases characterized by compromised neuromuscular transmission and clinical features of fatigable weakness; age at onset, presenting symptoms, distribution of weakne...
Mitochondrial ANT-1 related adPEO leading to cognitive impairment: is there a link? [0.03%]
线粒体ANT-1相关性adPEO导致认知障碍：有无关联？
Costanza Simoncini,Gabriele Siciliano,Gloria Tognoni et al.
Costanza Simoncini et al.
ANT1 is one of the nuclear genes responsible of autosomal dominant progressive external ophthalmoplegia (adPEO) with mitochondrial DNA multiple deletions. The course of ANT1- related adPEO is relatively benign, symptoms being generally rest...
Integrated care of muscular dystrophies in Italy. Part 1. Pharmacological treatment and rehabilitative interventions [0.03%]
意大利对肌营养不良的综合治疗。第1部分。药物与康复干预措施
Luisa Politano,Marianna Scutifero,Melania Patalano et al.
Luisa Politano et al.
This paper describes the pharmacological therapies and rehabilitative interventions received by 502 patients with Muscular Dystrophies, evaluated in relation to patient's socio-demographic and clinical variables, and geographical areas. Dat...
Teodora Paunic,Stojan Peric,Aleksandra Parojcic et al.
Teodora Paunic et al.
Myotonic dystrophy type 2 (DM2) is a multisystem disorder that affects many organs and systems, including the brain. The objective is to analyze personality patterns in myotonic dystrophy type 2 (DM2) compared to DM1 control group. The stud...
23Na MRI and myometry to compare eplerenone vs. glucocorticoid treatment in Duchenne dystrophy [0.03%]
用于杜氏肌营养不良的螺内酯与糖皮质激素治疗比较的23钠磁共振成像和肌力测量研究
Philip A Glemser,Heike Jaeger,Armin M Nagel et al.
Philip A Glemser et al.
In this pilot study we tested whether a low dose application of a mild diuretic substance such as eplerenone is beneficial in early stages of Duchenne muscular dystrophy using 23Na und 1H imaging, myometry, and clinical testing versus the g...
Giovanni Nigro
Giovanni Nigro
Hard ways towards adulthood: the transition phase in young people with myotonic dystrophy [0.03%]
坎坷的成长之路——肌张力障碍型肌肉营养不良症患者的过渡期
Sigrid Baldanzi,Giulia Ricci,Costanza Simoncini et al.
Sigrid Baldanzi et al.
Myotonic dystrophy type 1 (DM1), also called Steinert's disease, is a genetic multisystem disorder that has raised, in the last years, high interest because of the high variable clinical spectrum and related disability. Children with myoton...
New generation emerging technologies for neurorehabilitation and motor assistance [0.03%]
神经康复与运动辅助新技术涌现
Antonio Frisoli,Massimiliano Solazzi,Claudio Loconsole et al.
Antonio Frisoli et al.
This paper illustrates the application of emerging technologies and human-machine interfaces to the neurorehabilitation and motor assistance fields. The contribution focuses on wearable technologies and in particular on robotic exoskeleton ...