Brazilian Journal of Anesthesiology
https://bjan-sba.org/article/doi/10.1016/j.bjane.2023.10.001
Brazilian Journal of Anesthesiology
Letter to the Editor

How would a completely homogeneous malignant hyperthermia susceptible sample be?

Pamela Vieira de Andrade, Lívia Maria Valim, Joilson Moura Santos, Isac de Castro, José Luiz Gomes do Amaral, Helga Cristina Almeida da Silva

Downloads: 0
Views: 276

Abstract

Dear Editor,

We read with interest the letter to the editor by Finsterer et al. We appreciated the interest in our article and the comments, which gave us the opportunity to include additional data from our research and deepen the discussion on how would a completely homogeneous malignant hyperthermia (MH) susceptible sample be.

References

1. Finsterer J, Scorza FA, Scorza CA. Genetic specification of malignant hyperthermia susceptibility is warranted for assessing fatigue, depression, and exercise intolerance. Braz J Anesthesiol. 2023. https://doi.org/10.1016/j.bjane.2023.07.009. Online ahead of print.

2. Andrade PV, Valim LM, Santos JMD, et al. Fatigue, depression, and physical activity in patients with malignant hyperthermia: a cross-sectional observational study. Braz J Anesthesiol. 2023;73:132−7.

3. Silva HCAD, Onari ES, de Castro I, et al. Anestesia durante biop-  sia muscular para teste de suscetibilidade a hipertermia mali- gna [Anesthesia for muscle biopsy to test susceptibility to malignant hyperthermia]. Braz J Anesthesiol. 2019;69:335−41.

4. Torri F, Lopriore P, Montano V, et al. Pathophysiology and Management of Fatigue in Neuromuscular Diseases. Int J Mol Sci. 2023;24:5005.

5. Hopkins PM, Ruffert H, Snoeck MM, et al. European Malignant € Hyperthermia Group guidelines for investigation of malignant hyperthermia susceptibility. Br J Anaesth. 2015;115:531−9.

6. [Updated 2020 Jan 16] Rosenberg H, Sambuughin N, Riazi S, et al. Malignant Hyperthermia Susceptibility editors In: Adam MP, Mirzaa GM, Pagon RA, eds. GeneReviews [Internet], Seattle (WA): University of Washington; 2003 Dec 19.

7. Johnston JJ, Dirksen RT, Girard T, et al. Updated variant curation expert panel criteria and pathogenicity classifications for 251 variants for RYR1-related malignant hyperthermia susceptibility. Hum Mol Genet. 2022;31:4087−93.

8. Vorgerd M. Therapeutic options in other metabolic myopathies. Neurotherapeutics. 2008;5:579−82.

9. Grassi B, Rossiter HB, Zoladz JA. Skeletal muscle fatigue and decreased efficiency: two sides of the same coin? Exerc Sport Sci Rev. 2015;43:75−83.

10. Ogasawara M, Nishino I. A review of core myopathy: central core disease, multiminicore disease, dusty core disease, and core-rod myopathy. Neuromuscul Disord. 2021;31:968−77.

11. Kossugue PM, Paim JF, Navarro MM, et al. Central core disease due to recessive mutations in RYR1 gene: is it more common than described? Muscle Nerve. 2007;35:670−4.


Submitted date:
08/24/2023

Accepted date:
10/02/2023

6541632ca953957927079907 rba Articles
Links & Downloads

Braz J Anesthesiol

Share this page
Page Sections