Genomic Screening for Malignant Hyperthermia Susceptibility

被引：20

作者：

Biesecker, Leslie G. ^{[1
]}

Dirksen, Robert T. ^{[2
]}

Girard, Thierry ^{[3
]}

Hopkins, Philip M. ^{[4
]}

Riazi, Sheila ^{[5
]}

Rosenberg, Henry ^{[6
]}

Stowell, Kathryn ^{[7
]}

Weber, James ^{[8
]}

机构：

[1] NHGRI, Med Genom & Metab Genet Branch, Bethesda, MD 20892 USA

[2] Univ Rochester, Med Ctr, Dept Physiol & Pharmacol, Rochester, NY 14642 USA

[3] Univ Basel, Univ Hosp Basel, Dept Anesthesiol, Basel, Switzerland

[4] Univ Leeds, MH Invest Unit, Leeds, W Yorkshire, England

[5] Univ Toronto, Dept Anesthesiol & Pain Med, Toronto, ON, Canada

[6] Malignant Hyperthermia Assoc United States, POB 1069, New York, NY 13460 USA

[7] Massey Univ, Dept Biochem, Palmerston North, New Zealand

[8] Prevent Genet, Marshfield, WI USA

来源：

ANESTHESIOLOGY | 2020年 / 133卷 / 06期

基金：

美国国家卫生研究院;

关键词：

MEDICAL GENETICS; AMERICAN-COLLEGE; CLINICAL EXOME; RECOMMENDATIONS; ASSOCIATION; GUIDELINES;

D O I：

10.1097/ALN.0000000000003547

中图分类号：

R614 [麻醉学];

学科分类号：

100217 ;

摘要：

It is timely to consider the utility and practicability of screening for malignant hyperthermia susceptibility using genomic testing. Here the authors pose a simple, but bold question: what would it take to end deaths from malignant hyperthermia? The authors review recent advances and propose a scientific and clinical pathway toward this audacious goal to provoke discussion in the field. © 2020 Lippincott Williams and Wilkins. All rights reserved.

引用

页码：1277 / 1282

页数：6

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