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劳力性热射病危险因素的识别:关于基因检测的简要评论

Identification of risk factors for exertional heat illness: a brief commentary on genetic testing.

作者信息

Muldoon Sheila, Bunger Rolf, Deuster Patricia, Sambuughin Nyamkhishig

机构信息

Department of Anesthesiology, Uniformed Services University, Bethesda, MD, USA.

出版信息

J Sport Rehabil. 2007 Aug;16(3):222-6. doi: 10.1123/jsr.16.3.222.

Abstract

OBJECTIVE

This commentary discusses known links between Exertional Heat Illness (EHI), Malignant Hyperthermia (MH), and other hereditary diseases of muscle. Genetic and functional testing is also evaluated as measures of fitness to return to duty/play.

DATA SOURCES

Reviews and research articles from Sports Medicine, Applied Physiology, and Anesthesiology.

DATA EXTRACTION

Detailed comparisons of existing literature regarding clinical cases of EHI and MH and the potential utility of genetic testing, specifically the ryanodine receptor (RYR1) gene and other genes related to disorders of skeletal muscle.

DATA SYNTHESIS

EHI is a complex disorder wherein physiological, environmental, and hereditary factors interact to endanger an individual's ability to maintain thermal homeostasis.

CONCLUSIONS

Individuals' genetic background is likely to play an important role, particularly when EHI recurs. Recurrent EHI has been associated with MH and other genetic disorders, highlighting the importance of identification and exclusion of individuals with known high risk factors.

摘要

目的

本评论讨论了劳力性热射病(EHI)、恶性高热(MH)和其他遗传性肌肉疾病之间已知的联系。还评估了基因和功能测试作为恢复工作/运动适宜性的指标。

数据来源

运动医学、应用生理学和麻醉学领域的综述及研究文章。

数据提取

对现有文献中关于EHI和MH临床病例以及基因检测潜在效用的详细比较,特别是兰尼碱受体(RYR1)基因和其他与骨骼肌疾病相关的基因。

数据综合

EHI是一种复杂的病症,其中生理、环境和遗传因素相互作用,危及个体维持热稳态的能力。

结论

个体的遗传背景可能起着重要作用,尤其是当EHI复发时。复发性EHI与MH和其他遗传疾病有关,凸显了识别和排除已知高危因素个体的重要性。

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