Muscle dystrophy

  • 文章类型: Journal Article
    目的:在患有终末期心力衰竭(HF)的肌营养不良(MD)患者中,由于MD相关肌无力的渐进性,持续流动左心室辅助装置(cf-LVAD)治疗仍存在争议.
    方法:对2013年3月至2019年8月在我院行cf-VAD植入的所有MD患者进行回顾性研究。研究终点是死亡,由肌肉无力引起的主要LVAD相关并发症或呼吸功能障碍。
    结果:共纳入11例MD患者(Becker型:n=6;Emery-Dreifuss肌营养不良:n=2;福山亚型:n=1;肢体带1B:n=2)。
    方法:中位年龄41岁(IQR;29-47);日本机械辅助循环支持注册中位数:3级(2-3);MD诊断和LVAD植入之间的中位间隔为9年(6-18)。LVAD植入时的肺功能测试显示中位数为%VC;62%(45-82),FEV1%,82%(81-88)。出院生存率为100%,无肺部并发症和早期VAD相关并发症。在38个月(27-53)的中位随访中,由于设备感染需要重新入院(n=2),脑血管意外(致残,n=2和非禁用,n=2),室性心动过速(n=4),和右HF(n=3),分别。7名患者在中位等待时间为44个月(34-61)后成功接受了心脏移植;3名患者仍在等待名单上(等待时间:21、38和39个月)。一名患者在VAD植入后15个月死于右HF。在LVAD支持期间,没有人出现明显的肺功能障碍。
    结论:在选定的晚期HFMD患者中,cf-LVAD治疗作为心脏移植的桥梁是一种可行的治疗选择。
    OBJECTIVE: In muscular dystrophies (MD) patients with end-stage heart failure (HF), continuous flow left ventricular assist device (cf-LVAD) therapy is still controversial due to a progressive nature of MD-associated muscle weakness.
    METHODS: All the MD patients who had cf- VAD implants between March 2013 and August 2019 in our hospital were retrospectively studied. Study end points were death, major LVAD-associated complications or respiratory dysfunction caused by muscular weakness.
    RESULTS: A total of 11 MD patients (Becker type: n = 6; Emery-Dreifuss Myodystrophy: n = 2; Fukuyama subtype: n = 1; Limb-girdle 1B: n = 2) were enrolled.
    METHODS: median age 41 years (IQR; 29-47); median Japanese Registry for Mechanically Assisted Circulatory Support: level 3 (2-3); a median interval between MD diagnosis and LVAD implantation 9 years (6-18). The pulmonary function test at LVAD implantation showed a median of %VC; 62% (45-82), FEV1%, 82% (81-88). Survival to discharge was 100% without pulmonary complication and early VAD-related complications. During a median follow-up of 38 months (27-53), re-admissions were needed due to device infection (n = 2), cerebrovascular accidents (disabling, n = 2 and non-disabling, n = 2), ventricular tachycardia (n = 4), and right HF (n = 3), respectively. 7 patients received successful heart transplant after a median waiting time of 44 months (34-61); 3 patients are still on the waiting list (waiting time: 21, 38, and 39 months). One patient died of right HF 15 months after VAD implantation. No one had overt pulmonary dysfunction during LVAD support.
    CONCLUSIONS: In selected MD patients with end-stage HF, cf-LVAD therapy is a viable therapeutic option as bridge to heart transplant.
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  • 文章类型: Clinical Trial
    Physical activity is a recommended part of treatment for numerous neurological and neuromuscular disorders. Yet, many individuals with limited mobility are not able to meet the recommended activity levels. Lightweight, wearable robots like the Myosuit promise to facilitate functional ambulation and thereby physical activity. However, there is limited evidence of the safety and feasibility of training with such devices.
    Twelve participants with diverse motor disorders and the ability to walk for at least 10 m were enrolled in this uncontrolled case series study. The study protocol included five training sessions with a net training time of 45 min each. Primary outcomes were the feasibility of engaging in training with the Myosuit, the occurrence of adverse events, and participant retention. As secondary outcomes, we analyzed the walking speed using the 10-m Walk Test (10MWT) and for three participants, walking endurance using the 2-min Walk Tests.
    Eight out of 12 participants completed the entire study protocol. Three participants withdrew from the study or were excluded for reasons unrelated to the study. One participant withdrew because of an unsafe feeling when walking with the Myosuit. No adverse events occurred during the study period for any of the participants and all scheduled trainings were completed. For five out of the eight participants that completed the full study, the walking speed when using the Myosuit was higher than to their baseline walking speed.
    Activity-based training with the Myosuit appears to be safe, feasible, and well-tolerated by individuals with diverse motor disorders.
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