Literature DB >> 25611019

Improving awareness of nonanesthesia-related malignant hyperthermia presentations: a tale of two brothers.

Lauren E Potts1, Jason J Longwell, Peter Bedocs, Nyamkhishig Sambuughin, Saiid Bina, Patrick B Cooper, Craig G Carroll, Francis O'Connor, Patricia Deuster, Sheila M Muldoon, Susan Hamilton, John F Capacchione.   

Abstract

A 30-year-old man developed unexplained rhabdomyolysis, persistently increased creatine kinase and severe debilitating muscle cramps. After a nondiagnostic neurologic evaluation, he was referred for a muscle biopsy, to include histology/histochemistry, a myoglobinuria panel, and a caffeine halothane contracture test. Only the caffeine halothane contracture test was positive, and a subsequent ryanodine receptor type 1 gene evaluation revealed a mutation functionally causative for malignant hyperthermia. His identical twin brother, who was suffering from similar complaints, was found to share the same mutation. They each require oral dantrolene therapy to control symptoms, despite difficulty in identifying health care providers familiar with treating this disorder.

Entities:  

Year:  2014        PMID: 25611019     DOI: 10.1213/XAA.0000000000000043

Source DB:  PubMed          Journal:  A A Case Rep        ISSN: 2325-7237


  4 in total

1.  Is Heat Intolerance State or Trait?

Authors:  Yuri Hosokawa; Rebecca L Stearns; Douglas J Casa
Journal:  Sports Med       Date:  2019-03       Impact factor: 11.136

2.  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 3.  Return of secondary findings in genomic sequencing: Military implications.

Authors:  Lydia D Hellwig; Clesson Turner; Teri A Manolio; Mark Haigney; Cynthia A James; Brittney Murray; Dale F Szpisjak; Sheila Muldoon; Juvianee Estrada-Veras; Alyson Krokosky; Mauricio J De Castro
Journal:  Mol Genet Genomic Med       Date:  2018-11-10       Impact factor: 2.183

4.  Fatal awake malignant hyperthermia episodes in a family with malignant hyperthermia susceptibility: a case series.

Authors:  Elena Zvaritch; Robyn Gillies; Natalia Kraeva; Maxime Richer; Heinz Jungbluth; Sheila Riazi
Journal:  Can J Anaesth       Date:  2019-02-19       Impact factor: 5.063

  4 in total

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