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杜氏肌营养不良症的精准医学与运动疗法

Precision Medicine and Exercise Therapy in Duchenne Muscular Dystrophy.

作者信息

Kostek Matthew

机构信息

Laboratory of Muscle and Translational Therapeutics, Department of Physical Therapy, Duquesne University, Pittsburgh, PA 15228, USA.

McGowan Institute of Regenerative Medicine, University of Pittsburgh School of Medicine, Pittsburgh, PA 15228, USA.

出版信息

Sports (Basel). 2019 Mar 15;7(3):64. doi: 10.3390/sports7030064.

Abstract

Precision medicine is being discussed and incorporated at all levels of health care and disease prevention, management, and treatment. Key components include new taxonomies of disease classification, the measurement and incorporation of genetics and "omics" data, biomarkers, and health care professionals who can optimize this information for a precision approach to treatment. The study and treatment of Duchenne Muscular Dystrophy is making rapid advances in these areas in addition to rapid advances in new gene and cell-based therapies. New therapies will increase the variability in disease severity, furthering a need for a precision-based approach. An area of therapy that is rarely considered in this approach is how the physiology of muscle contractions will interact with these therapies and a precision approach. As muscle pathology improves, physical activity levels will increase, which will likely be very beneficial to some patients but likely not to all. Physical activity is likely to synergistically improve these therapies and can be used to enhance muscle health and quality of life after these therapies are delivered using the tools of precision medicine.

摘要

精准医学正在医疗保健以及疾病预防、管理和治疗的各个层面被讨论并纳入其中。关键组成部分包括新的疾病分类法、遗传学和“组学”数据的测量与纳入、生物标志物,以及能够为精准治疗方法优化这些信息的医疗保健专业人员。除了在基于新基因和细胞的疗法方面取得快速进展外,杜氏肌营养不良症的研究和治疗在这些领域也正在迅速推进。新疗法将增加疾病严重程度的变异性,进一步凸显了基于精准的方法的必要性。在这种方法中很少被考虑的一个治疗领域是肌肉收缩的生理学将如何与这些疗法以及精准方法相互作用。随着肌肉病理学的改善,身体活动水平将会提高,这对一些患者可能非常有益,但对所有患者可能并非如此。身体活动可能会协同改善这些疗法,并且在使用精准医学工具提供这些疗法后,可用于增强肌肉健康和生活质量。

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