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Rare disease with malignant hyperthermia

MedGen UID:
1813067
Concept ID:
C5681128
Disease or Syndrome
Related genes: STAC3, SELENON, RYR1, CACNA1S
 
Orphanet: ORPHA466658

Term Hierarchy

Professional guidelines

PubMed

Velamoor R
Asian J Psychiatr 2017 Oct;29:106-109. Epub 2017 May 4 doi: 10.1016/j.ajp.2017.05.004. PMID: 29061403
Amburgey K, Bailey A, Hwang JH, Tarnopolsky MA, Bonnemann CG, Medne L, Mathews KD, Collins J, Daube JR, Wellman GP, Callaghan B, Clarke NF, Dowling JJ
Orphanet J Rare Dis 2013 Aug 6;8:117. doi: 10.1186/1750-1172-8-117. PMID: 23919265Free PMC Article
Moran B, Baratti D, Yan TD, Kusamura S, Deraco M
J Surg Oncol 2008 Sep 15;98(4):277-82. doi: 10.1002/jso.21054. PMID: 18726894

Recent clinical studies

Etiology

Lim MC, Chang SJ, Park B, Yoo HJ, Yoo CW, Nam BH, Park SY; HIPEC for Ovarian Cancer Collaborators
JAMA Surg 2022 May 1;157(5):374-383. doi: 10.1001/jamasurg.2022.0143. PMID: 35262624Free PMC Article
Holder SD, Edmunds AL, Morgan S
FP Essent 2017 Apr;455:23-29. PMID: 28437058
Amburgey K, Bailey A, Hwang JH, Tarnopolsky MA, Bonnemann CG, Medne L, Mathews KD, Collins J, Daube JR, Wellman GP, Callaghan B, Clarke NF, Dowling JJ
Orphanet J Rare Dis 2013 Aug 6;8:117. doi: 10.1186/1750-1172-8-117. PMID: 23919265Free PMC Article
Rosenberg H, Davis M, James D, Pollock N, Stowell K
Orphanet J Rare Dis 2007 Apr 24;2:21. doi: 10.1186/1750-1172-2-21. PMID: 17456235Free PMC Article
Melli G, Chaudhry V, Cornblath DR
Medicine (Baltimore) 2005 Nov;84(6):377-385. doi: 10.1097/01.md.0000188565.48918.41. PMID: 16267412

Diagnosis

Tao M, Li J, Wang X, Tian X
Expert Opin Drug Saf 2021 Sep;20(9):1075-1085. Epub 2021 Apr 26 doi: 10.1080/14740338.2021.1919622. PMID: 33866917
Gong X
BMC Anesthesiol 2021 Apr 16;21(1):119. doi: 10.1186/s12871-021-01328-3. PMID: 33863282Free PMC Article
Bartoška P, Antoš F, Nemec L, Hoskovec D, Dytrych P, Levý M, Klos D, Tomášek J
Klin Onkol 2019 Fall;32(5):324-328. doi: 10.14735/amko2019324. PMID: 31610662
Rosenberg H, Davis M, James D, Pollock N, Stowell K
Orphanet J Rare Dis 2007 Apr 24;2:21. doi: 10.1186/1750-1172-2-21. PMID: 17456235Free PMC Article
Melli G, Chaudhry V, Cornblath DR
Medicine (Baltimore) 2005 Nov;84(6):377-385. doi: 10.1097/01.md.0000188565.48918.41. PMID: 16267412

Therapy

Lim MC, Chang SJ, Park B, Yoo HJ, Yoo CW, Nam BH, Park SY; HIPEC for Ovarian Cancer Collaborators
JAMA Surg 2022 May 1;157(5):374-383. doi: 10.1001/jamasurg.2022.0143. PMID: 35262624Free PMC Article
Tao M, Li J, Wang X, Tian X
Expert Opin Drug Saf 2021 Sep;20(9):1075-1085. Epub 2021 Apr 26 doi: 10.1080/14740338.2021.1919622. PMID: 33866917
Kushnir A, Todd JJ, Witherspoon JW, Yuan Q, Reiken S, Lin H, Munce RH, Wajsberg B, Melville Z, Clarke OB, Wedderburn-Pugh K, Wronska A, Razaqyar MS, Chrismer IC, Shelton MO, Mankodi A, Grunseich C, Tarnopolsky MA, Tanji K, Hirano M, Riazi S, Kraeva N, Voermans NC, Gruber A, Allen C, Meilleur KG, Marks AR
Acta Neuropathol 2020 Jun;139(6):1089-1104. Epub 2020 Mar 31 doi: 10.1007/s00401-020-02150-w. PMID: 32236737Free PMC Article
Rosenberg H, Davis M, James D, Pollock N, Stowell K
Orphanet J Rare Dis 2007 Apr 24;2:21. doi: 10.1186/1750-1172-2-21. PMID: 17456235Free PMC Article
Melli G, Chaudhry V, Cornblath DR
Medicine (Baltimore) 2005 Nov;84(6):377-385. doi: 10.1097/01.md.0000188565.48918.41. PMID: 16267412

Prognosis

Tao M, Li J, Wang X, Tian X
Expert Opin Drug Saf 2021 Sep;20(9):1075-1085. Epub 2021 Apr 26 doi: 10.1080/14740338.2021.1919622. PMID: 33866917
Kushnir A, Todd JJ, Witherspoon JW, Yuan Q, Reiken S, Lin H, Munce RH, Wajsberg B, Melville Z, Clarke OB, Wedderburn-Pugh K, Wronska A, Razaqyar MS, Chrismer IC, Shelton MO, Mankodi A, Grunseich C, Tarnopolsky MA, Tanji K, Hirano M, Riazi S, Kraeva N, Voermans NC, Gruber A, Allen C, Meilleur KG, Marks AR
Acta Neuropathol 2020 Jun;139(6):1089-1104. Epub 2020 Mar 31 doi: 10.1007/s00401-020-02150-w. PMID: 32236737Free PMC Article
Amburgey K, Bailey A, Hwang JH, Tarnopolsky MA, Bonnemann CG, Medne L, Mathews KD, Collins J, Daube JR, Wellman GP, Callaghan B, Clarke NF, Dowling JJ
Orphanet J Rare Dis 2013 Aug 6;8:117. doi: 10.1186/1750-1172-8-117. PMID: 23919265Free PMC Article
Jungbluth H
Orphanet J Rare Dis 2007 Jul 13;2:31. doi: 10.1186/1750-1172-2-31. PMID: 17631035Free PMC Article
Melli G, Chaudhry V, Cornblath DR
Medicine (Baltimore) 2005 Nov;84(6):377-385. doi: 10.1097/01.md.0000188565.48918.41. PMID: 16267412

Clinical prediction guides

Rodrigues G, Andrade PV, Santos JMD, Castro I, Amaral JLGD, Silva HCAD
Braz J Anesthesiol 2023 Mar-Apr;73(2):138-144. Epub 2022 Feb 2 doi: 10.1016/j.bjane.2021.10.021. PMID: 35121058Free PMC Article
Lawal TA, Todd JJ, Witherspoon JW, Bönnemann CG, Dowling JJ, Hamilton SL, Meilleur KG, Dirksen RT
Skelet Muscle 2020 Nov 16;10(1):32. doi: 10.1186/s13395-020-00243-4. PMID: 33190635Free PMC Article
Kushnir A, Todd JJ, Witherspoon JW, Yuan Q, Reiken S, Lin H, Munce RH, Wajsberg B, Melville Z, Clarke OB, Wedderburn-Pugh K, Wronska A, Razaqyar MS, Chrismer IC, Shelton MO, Mankodi A, Grunseich C, Tarnopolsky MA, Tanji K, Hirano M, Riazi S, Kraeva N, Voermans NC, Gruber A, Allen C, Meilleur KG, Marks AR
Acta Neuropathol 2020 Jun;139(6):1089-1104. Epub 2020 Mar 31 doi: 10.1007/s00401-020-02150-w. PMID: 32236737Free PMC Article
Amburgey K, Bailey A, Hwang JH, Tarnopolsky MA, Bonnemann CG, Medne L, Mathews KD, Collins J, Daube JR, Wellman GP, Callaghan B, Clarke NF, Dowling JJ
Orphanet J Rare Dis 2013 Aug 6;8:117. doi: 10.1186/1750-1172-8-117. PMID: 23919265Free PMC Article
Davis PJ, Brandom BW
Anesth Analg 2009 Oct;109(4):1001-3. doi: 10.1213/ane.0b013e3181b493d4. PMID: 19762721

Recent systematic reviews

Lawal TA, Wires ES, Terry NL, Dowling JJ, Todd JJ
Orphanet J Rare Dis 2020 May 7;15(1):113. doi: 10.1186/s13023-020-01384-x. PMID: 32381029Free PMC Article
Kraeva N, Sapa A, Dowling JJ, Riazi S
Can J Anaesth 2017 Jul;64(7):736-743. Epub 2017 Mar 21 doi: 10.1007/s12630-017-0865-5. PMID: 28326467

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