Literature DB >> 26188342

European Malignant Hyperthermia Group guidelines for investigation of malignant hyperthermia susceptibility.

P M Hopkins1, H Rüffert2, M M Snoeck3, T Girard4, K P E Glahn5, F R Ellis6, C R Müller7, A Urwyler4.   

Abstract

It is 30 yr since the British Journal of Anaesthesia published the first consensus protocol for the laboratory diagnosis of malignant hyperthermia susceptibility from the European Malignant Hyperthermia Group. This has subsequently been used in more than 10 000 individuals worldwide to inform use of anaesthetic drugs in these patients with increased risk of developing malignant hyperthermia during general anaesthesia, representing an early and successful example of stratified medicine. In 2001, our group also published a guideline for the use of DNA-based screening of malignant hyperthermia susceptibility. We now present an updated and complete guideline for the diagnostic pathway for patients potentially at increased risk of developing malignant hyperthermia. We introduce the new guideline with a narrative commentary that describes its development, the changes to previously published protocols and guidelines, and new sections, including recommendations for patient referral criteria and clinical interpretation of laboratory findings.
© The Author 2015. Published by Oxford University Press on behalf of the British Journal of Anaesthesia. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

Entities:  

Keywords:  CACNA1S; RYR1; excitation–contraction coupling; malignant hyperthermia; malignant hyperthermia susceptibility, diagnosis; skeletal muscle

Mesh:

Year:  2015        PMID: 26188342     DOI: 10.1093/bja/aev225

Source DB:  PubMed          Journal:  Br J Anaesth        ISSN: 0007-0912            Impact factor:   9.166


  44 in total

1.  Bayesian modeling to predict malignant hyperthermia susceptibility and pathogenicity of RYR1, CACNA1S and STAC3 variants.

Authors:  Senthilkumar Sadhasivam; Barbara W Brandom; Richard A Henker; John J McAuliffe
Journal:  Pharmacogenomics       Date:  2019-09       Impact factor: 2.533

2.  [28-year-old male with intraoperative unclear tachycardia, hypercapnia and increased temperature : Preparation for the medical specialist examination: Part 22].

Authors:  F Schuster; S Johannsen
Journal:  Anaesthesist       Date:  2019-04       Impact factor: 1.041

3.  Genetic epidemiology of malignant hyperthermia in the UK.

Authors:  D M Miller; C Daly; E M Aboelsaod; L Gardner; S J Hobson; K Riasat; S Shepherd; R L Robinson; J G Bilmen; P K Gupta; M-A Shaw; P M Hopkins
Journal:  Br J Anaesth       Date:  2018-08-17       Impact factor: 9.166

4.  Malignant hyperthermia, environmental heat stress, and intracellular calcium dysregulation in a mouse model expressing the p.G2435R variant of RYR1.

Authors:  J R Lopez; V Kaura; C P Diggle; P M Hopkins; P D Allen
Journal:  Br J Anaesth       Date:  2018-08-10       Impact factor: 9.166

5.  [Telephone enquiries on the topic of malignant hyperthermia: Evaluation of the content and subsequent diagnostic results at the MH Center Leipzig].

Authors:  B Petersen; T Busch; C-D Meinecke; B Börge; K Kluba; U X Kaisers; H Rüffert
Journal:  Anaesthesist       Date:  2015-10-19       Impact factor: 1.041

6.  Bioenergetic defects in muscle fibers of RYR1 mutant knock-in mice associated with malignant hyperthermia.

Authors:  Leon Chang; Xiaochen Liu; Christine P Diggle; John P Boyle; Philip M Hopkins; Marie-Anne Shaw; Paul D Allen
Journal:  J Biol Chem       Date:  2020-08-21       Impact factor: 5.157

Review 7.  Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for the Use of Potent Volatile Anesthetic Agents and Succinylcholine in the Context of RYR1 or CACNA1S Genotypes.

Authors:  Stephen G Gonsalves; Robert T Dirksen; Katrin Sangkuhl; Rebecca Pulk; Maria Alvarellos; Teresa Vo; Keiko Hikino; Dan Roden; Teri E Klein; S Mark Poler; Sephalie Patel; Kelly E Caudle; Ronald Gordon; Barbara Brandom; Leslie G Biesecker
Journal:  Clin Pharmacol Ther       Date:  2019-01-24       Impact factor: 6.875

8.  A multi-dimensional analysis of genotype-phenotype discordance in malignant hyperthermia susceptibility.

Authors:  Carlos A Ibarra Moreno; Natalia Kraeva; Elena Zvaritch; Lourdes Figueroa; Eduardo Rios; Leslie Biesecker; Filip Van Petegem; Philip M Hopkins; Sheila Riazi
Journal:  Br J Anaesth       Date:  2020-08-27       Impact factor: 9.166

Review 9.  Malignant Hyperthermia in the Post-Genomics Era: New Perspectives on an Old Concept.

Authors:  Sheila Riazi; Natalia Kraeva; Philip M Hopkins
Journal:  Anesthesiology       Date:  2018-01       Impact factor: 7.892

10.  Dietary Caffeine Synergizes Adverse Peripheral and Central Responses to Anesthesia in Malignant Hyperthermia Susceptible Mice.

Authors:  Monica Aleman; Rui Zhang; Wei Feng; Lihong Qi; Jose R Lopez; Chelsea Crowe; Yao Dong; Genady Cherednichenko; Isaac N Pessah
Journal:  Mol Pharmacol       Date:  2020-08-06       Impact factor: 4.436

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