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Literature DB >> 32898259

Genomic Screening for Malignant Hyperthermia Susceptibility.

Leslie G Biesecker, Robert T Dirksen, Thierry Girard, Philip M Hopkins, Sheila Riazi, Henry Rosenberg, Kathryn Stowell, James Weber.

Abstract

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.

Entities: Chemical Disease Gene

Mesh：

Year: 2020 PMID： 32898259 PMCID： PMC7658016 DOI： 10.1097/ALN.0000000000003547

Source DB: PubMed Journal: Anesthesiology ISSN： 0003-3022 Impact factor: 7.892

21 in total

1. Estimating prevalence of malignant hyperthermia susceptibility through population genomics data.

Authors: Ognoon Mungunsukh; Patricia Deuster; Sheila Muldoon; Francis O'Connor; Nyamkhishig Sambuughin
Journal: Br J Anaesth Date: 2019-07-10 Impact factor: 9.166

2. Malignant hyperthermia in Japan: mutation screening of the entire ryanodine receptor type 1 gene coding region by direct sequencing.

Authors: Carlos A Ibarra M; Shiwen Wu; Kumiko Murayama; Narihiro Minami; Yasuko Ichihara; Hirosato Kikuchi; Satoru Noguchi; Yukiko K Hayashi; Ryoichi Ochiai; Ichizo Nishino
Journal: Anesthesiology Date: 2006-06 Impact factor: 7.892

3. Presence of two different genetic traits in malignant hyperthermia families: implication for genetic analysis, diagnosis, and incidence of malignant hyperthermia susceptibility.

Authors: Nicole Monnier; Renée Krivosic-Horber; Jean-François Payen; Geneviève Kozak-Ribbens; Yves Nivoche; Pascal Adnet; Hugo Reyford; Joël Lunardi
Journal: Anesthesiology Date: 2002-11 Impact factor: 7.892

4. Special article: Creation of a guide for the transfer of care of the malignant hyperthermia patient from ambulatory surgery centers to receiving hospital facilities.

Authors: Marilyn Green Larach; Sharon J Hirshey Dirksen; Kumar G Belani; Barbara W Brandom; Keith M Metz; Michael A Policastro; Henry Rosenberg; Arnaldo Valedon; Charles B Watson
Journal: Anesth Analg Date: 2011-11-03 Impact factor: 5.108

5. Incidence of malignant hyperthermia in Denmark.

Authors: H Ording
Journal: Anesth Analg Date: 1985-07 Impact factor: 5.108

6. Cardiac arrests and deaths associated with malignant hyperthermia in north america from 1987 to 2006: a report from the north american malignant hyperthermia registry of the malignant hyperthermia association of the United States.

Authors: Marilyn Green Larach; Barbara W Brandom; Gregory C Allen; Gerald A Gronert; Erik B Lehman
Journal: Anesthesiology Date: 2008-04 Impact factor: 7.892

7. Trends and outcomes of malignant hyperthermia in the United States, 2000 to 2005.

Authors: Eric B Rosero; Adebola O Adesanya; Carlos H Timaran; Girish P Joshi
Journal: Anesthesiology Date: 2009-01 Impact factor: 7.892

8. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Authors: Sue Richards; Nazneen Aziz; Sherri Bale; David Bick; Soma Das; Julie Gastier-Foster; Wayne W Grody; Madhuri Hegde; Elaine Lyon; Elaine Spector; Karl Voelkerding; Heidi L Rehm
Journal: Genet Med Date: 2015-03-05 Impact factor: 8.822

9. TRPV1 variants impair intracellular Ca²⁺ signaling and may confer susceptibility to malignant hyperthermia.

Authors: Fabien Vanden Abeele; Sabine Lotteau; Fabien Van Coppenolle; Natalia Prevarskaya; Sylvie Ducreux; Charlotte Dubois; Nicole Monnier; Amy Hanna; Dimitra Gkika; Caroline Romestaing; Lucile Noyer; Matthieu Flourakis; Nolwenn Tessier; Ribal Al-Mawla; Christophe Chouabe; Etienne Lefai; Joël Lunardi; Susan Hamilton; Julien Fauré
Journal: Genet Med Date: 2018-06-21 Impact factor: 8.822

Genomic Screening for Malignant Hyperthermia Susceptibility.

1. Estimating prevalence of malignant hyperthermia susceptibility through population genomics data.

2. Malignant hyperthermia in Japan: mutation screening of the entire ryanodine receptor type 1 gene coding region by direct sequencing.

3. Presence of two different genetic traits in malignant hyperthermia families: implication for genetic analysis, diagnosis, and incidence of malignant hyperthermia susceptibility.

4. Special article: Creation of a guide for the transfer of care of the malignant hyperthermia patient from ambulatory surgery centers to receiving hospital facilities.

5. Incidence of malignant hyperthermia in Denmark.

6. Cardiac arrests and deaths associated with malignant hyperthermia in north america from 1987 to 2006: a report from the north american malignant hyperthermia registry of the malignant hyperthermia association of the United States.

7. Trends and outcomes of malignant hyperthermia in the United States, 2000 to 2005.

8. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

9. TRPV1 variants impair intracellular Ca²⁺ signaling and may confer susceptibility to malignant hyperthermia.

10. Search-and-replace genome editing without double-strand breaks or donor DNA.

Review 1. Anaesthetic management of a known or suspected malignant hyperthermia susceptible patient.

2. Rapid screening for mutations associated with malignant hyperthermia using high-resolution melting curve analysis.

3. Intravenous dantrolene in hypermetabolic syndromes: a survey of the U.S. Veterans Health Administration database.

4. Sevoflurane may not be a complete sigh of relief in COVID-19.