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Literature DB >> 25189431

Malignant hyperthermia and the clinical significance of type-1 ryanodine receptor gene (RYR1) variants: proceedings of the 2013 MHAUS Scientific Conference.

Sheila Riazi¹, Natalia Kraeva, Sheila M Muldoon, James Dowling, Clara Ho, Maria-Alexandra Petre, Jerome Parness, Robert T Dirksen, Henry Rosenberg.

Abstract

The Malignant Hyperthermia Association of the United States and the Department of Anesthesia at the University of Toronto sponsored a Scientific Conference on November 1-2, 2013 in Toronto, ON, Canada. The multidisciplinary group of experts, including clinicians, geneticists, and physiologists involved in research related to malignant hyperthermia (MH), shared new insights into the pathophysiology of diseases linked to the type-1 ryanodine receptor gene (RYR1) as well as the relationship between MH and "awake MH" conditions, such as exertional rhabdomyolysis and exertional heat illness. In addition, the molecular genetics of MH and clinical issues related to the diagnosis and management of disorders linked to RYR1 were presented. The conference also honoured Dr. David H. MacLennan for his contributions to our understanding of the genetics, pathogenesis, and treatment of MH and other RYR1-related myopathies. This report represents a summary of the proceedings of this conference.

Entities: CellLine Chemical Disease Gene Mutation Species

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Year: 2014 PMID： 25189431 PMCID： PMC4276369 DOI： 10.1007/s12630-014-0227-5

Source DB: PubMed Journal: Can J Anaesth ISSN： 0832-610X Impact factor: 5.063

47 in total

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Journal: Proc Natl Acad Sci U S A Date: 2012-04-30 Impact factor: 11.205

2. Is there a link between malignant hyperthermia and exertional heat illness?

Authors: Sheila Muldoon; Patricia Deuster; Barbara Brandom; Rolf Bunger
Journal: Exerc Sport Sci Rev Date: 2004-10 Impact factor: 6.230

Review 3. Strategies for postmarketing surveillance of drugs for rare diseases.

Authors: A S Kesselheim; J J Gagne
Journal: Clin Pharmacol Ther Date: 2013-11-05 Impact factor: 6.875

Review 4. Mutations in RYR1 in malignant hyperthermia and central core disease.

Authors: Rachel Robinson; Danielle Carpenter; Marie-Anne Shaw; Jane Halsall; Philip Hopkins
Journal: Hum Mutat Date: 2006-10 Impact factor: 4.878

5. Simvastatin induces impairment in skeletal muscle while heart is protected.

Authors: Pascal Sirvent; Sylvain Bordenave; Marianne Vermaelen; Belle Roels; Guy Vassort; Jacques Mercier; Eric Raynaud; Alain Lacampagne
Journal: Biochem Biophys Res Commun Date: 2005-10-26 Impact factor: 3.575

6. Short read (next-generation) sequencing: a tutorial with cardiomyopathy diagnostics as an exemplar.

Authors: Jaya Punetha; Eric P Hoffman
Journal: Circ Cardiovasc Genet Date: 2013-07-14

7. Genetic risk for malignant hyperthermia in non-anesthesia-induced myopathies.

Authors: Georgirene D Vladutiu; Paul J Isackson; Kenneth Kaufman; John B Harley; Beth Cobb; Lisa Christopher-Stine; Robert L Wortmann
Journal: Mol Genet Metab Date: 2011-07-12 Impact factor: 4.797

8. Type 3 ryanodine receptors of skeletal muscle are segregated in a parajunctional position.

Authors: Edward Felder; Clara Franzini-Armstrong
Journal: Proc Natl Acad Sci U S A Date: 2002-01-29 Impact factor: 11.205

9. Oxidative stress and successful antioxidant treatment in models of RYR1-related myopathy.

Authors: James J Dowling; Sandrine Arbogast; Junguk Hur; Darcee D Nelson; Anna McEvoy; Trent Waugh; Isabelle Marty; Joel Lunardi; Susan V Brooks; John Y Kuwada; Ana Ferreiro
Journal: Brain Date: 2012-03-14 Impact factor: 13.501

10. AICAR prevents heat-induced sudden death in RyR1 mutant mice independent of AMPK activation.

Authors: Johanna T Lanner; Dimitra K Georgiou; Adan Dagnino-Acosta; Alina Ainbinder; Qing Cheng; Aditya D Joshi; Zanwen Chen; Viktor Yarotskyy; Joshua M Oakes; Chang Seok Lee; Tanner O Monroe; Arturo Santillan; Keke Dong; Laurie Goodyear; Iskander I Ismailov; George G Rodney; Robert T Dirksen; Susan L Hamilton
Journal: Nat Med Date: 2012-01-08 Impact factor: 53.440

13 in total

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Journal: Pediatr Nephrol Date: 2017-08-05 Impact factor: 3.714

Review 2. PharmGKB summary: succinylcholine pathway, pharmacokinetics/pharmacodynamics.

Authors: Maria L Alvarellos; Ellen M McDonagh; Sephalie Patel; Howard L McLeod; Russ B Altman; Teri E Klein
Journal: Pharmacogenet Genomics Date: 2015-12 Impact factor: 2.089

3. Episodic RYR1-Related Crisis: Part of the Evolving Spectrum of RYR1-Related Myopathies and Malignant Hyperthermia-Like Illnesses.

Authors: James J Dowling; Sheila Riazi; Ronald S Litman
Journal: A A Pract Date: 2021-01-19

4. Round Table on Malignant Hyperthermia in Physically Active Populations: Meeting Proceedings.

Authors: Yuri Hosokawa; Douglas J Casa; Henry Rosenberg; John F Capacchione; Emmanuel Sagui; Sheila Riazi; Luke N Belval; Patricia A Deuster; John F Jardine; Stavros A Kavouras; Elaine C Lee; Kevin C Miller; Sheila M Muldoon; Francis G O'Connor; Scott R Sailor; Nyamkhishig Sambuughin; Rebecca L Stearns; William M Adams; Robert A Huggins; Lesley W Vandermark
Journal: J Athl Train Date: 2017-03-07 Impact factor: 2.860

Review 5. 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

6. Exertional Heat Stroke and Susceptibility to Malignant Hyperthermia in an Athlete: Evidence for a Link?

Authors: Mathias Poussel; Philippe Guerci; Pierre Kaminsky; Marie Heymonet; Nathalie Roux-Buisson; Julien Faure; Emilien Fronzaroli; Bruno Chenuel
Journal: J Athl Train Date: 2015-11-13 Impact factor: 2.860

7. Myotoxicity of local anesthetics is equivalent in individuals with and without predisposition to malignant hyperthermia.

Authors: Sachiko Otsuki; Toshimichi Yasuda; Keiko Mukaida; Yuko Noda; Rieko Kanzaki; Hirotsugu Miyoshi; Takashi Kondo; Hiroshi Hamada; Masashi Kawamoto
Journal: J Anesth Date: 2018-06-25 Impact factor: 2.078