Total energy expenditure assessed by doubly labeled water in patients with myotonic dystrophy type 1: Associations with body composition and functional status [0.03%]
双标水法评估原发性肌张力不全患者总能量消耗与机体组成和功能状态的关系
George Umemoto,Yoichi Hatamoto,Hajime Arahata et al.
George Umemoto et al.
Background & AimsMyotonic dystrophy type 1 (DM1) is frequently associated with metabolic abnormalities and altered body composition, yet energy metabolism under free-living conditions remains incompletely characterized. This study aimed to ...
Prospective study of efgartigimod in severe myasthenia gravis exacerbations requiring ventilatory or enteral support [0.03%]
一项前瞻性研究：评估Efgartigimod在严重需要通气或肠内支持的重症肌无力加重患者中的疗效
Shahar Shelly,Ayal Rosenberg,Mohamad Zoabi et al.
Shahar Shelly et al.
Background and objectivesTo evaluate the safety and clinical efficacy of efgartigimod in adults with severe generalized myasthenia gravis (MG) exacerbations requiring ventilatory or enteral support.MethodsProspective, single-arm, open-label...
Clinical and functional outcome measures in LAMA2-related muscular dystrophy and SELENON-related myopathy; a 1.5-year natural history study [0.03%]
LAMA2相关肌肉营养不良和SELENON相关肌病的临床及功能预后评估指标：一项为期1.5年的自然史研究
Elisabeth C M de Laat,Jan T Groothuis,Karlijn Bouman et al.
Elisabeth C M de Laat et al.
BackgroundLAMA2-related muscular dystrophy (LAMA2-MD) and SELENON-related myopathy (SELENON-RM) are rare congenital muscle diseases characterized by slowly progressive proximal muscle weakness, spinal rigidity and respiratory insufficiency....
Energy expenditure and the accuracy of predictive equations in myotonic dystrophy type 1 [0.03%]
能量消耗及营养不良型肌强直1型预测方程的准确性
Wander J A Aarts,Basil P A P van Veen,Cas J Fuchs et al.
Wander J A Aarts et al.
BackgroundMyotonic dystrophy type 1 (DM1) is associated with reduced physical activity, overweight and cardiovascular morbidity. Nutritional management requires accurate estimation of total daily energy expenditure (TEE), based on basal met...
Expanding the phenotypic spectrum of COL6-related diseases: Motor neuropathy-like and neuromyopathy associated with COL6A3 c.7447A>G [0.03%]
COL6相关性疾病表型谱的扩展：COL6A3 c. 7447A>G突变引起的类似运动神经病和肌病
Rocio Nur Villar-Quiles,A Reghan Foley,Corinne Metay et al.
Rocio Nur Villar-Quiles et al.
Collagen VI is a key component of the extracellular matrix. Murine models suggest that it regulates Schwann cell differentiation, peripheral nerve myelination and regeneration after injury. Neuropathic findings in COL6-related dystrophies (...
Cardiac autonomic dysfunction is associated with advanced stage, fast progression and poor survival in amyotrophic lateral sclerosis [0.03%]
心脏自主神经功能障碍与肌萎缩侧索硬化晚期、快速进展和预后不良有关
Zehui Li,Jingjing Fan,Zhenxiang Gong et al.
Zehui Li et al.
ObjectiveTo investigate the association of cardiac autonomic dysfunction with clinical staging and disease progression rate upon diagnosis of amyotrophic lateral sclerosis (ALS), and its impact on survival.Methods24-hour Holter was performe...
Effects of intermittent corticosteroids on scoliosis, bone density, and vertebral fractures in duchenne muscular dystrophy [0.03%]
间歇性皮质类固醇对杜氏肌营养不良侧弯、骨密度和椎体骨折的影响
Nadine A Ikelaar,Louise S M Blok,Mees H P Stoop et al.
Nadine A Ikelaar et al.
IntroductionSpinal involvement is common in Duchenne muscular dystrophy (DMD), specifically scoliosis and vertebral fractures. Treatment with corticosteroids (CS) delays scoliosis onset, but also induces low bone mineral density, increasing...
Large phenotypic variability with severe respiratory involvement in MEGF10-related myopathies: Description of three cases [0.03%]
MEGF10相关性肌病的临床表型多样性及严重呼吸系统受累：3例报道
Alessandra Pennisi,Alexandru Caramizaru,Gianmarco Severa et al.
Alessandra Pennisi et al.
MEGF10 biallelic variants cause early-onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD), congenital myopathies with cores, and later-onset myopathies with respiratory failure. As MEGF10 plays a key role in satellite cel...
Assisted leg cycle exercise for wheelchair users with muscular dystrophy [0.03%]
肌营养不良轮椅使用者的助力腿部骑自行车运动
Nanna S Poulsen,Jonas J Loft,Rebecca K Andersen et al.
Nanna S Poulsen et al.
BackgroundWheelchair users with muscular dystrophy face health challenges from their condition, sedentary lifestyle, and wheelchair use. While exercise benefits are well-documented in healthy individuals, its effects in wheelchair users wit...
Myocardial fat fraction in Becker muscular dystrophy and women carrying pathogenic DMD gene variants assessed by Dixon cardiac MRI [0.03%]
Dixon心脏MRI评估贝克尔型肌营养不良患者和携带病理性DMD基因变异女性的心肌脂肪分数
Zhe Lyu,Bjørk Teitsdóttir,Heini Joensen et al.
Zhe Lyu et al.
Background/ObjectivePathogenic variants in the dystrophin gene (DMD) cause dystrophinopathies. These variants can cause skeletal and cardiac involvement. Disease progression in skeletal muscle is characterized by fatty replacement, but whet...