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Quoted phrase not found in phrase index: "Rhabdomyolysis, susceptibility to, 1"
Page 1
Malignant hyperthermia: a review.
Rosenberg H, Pollock N, Schiemann A, Bulger T, Stowell K. Rosenberg H, et al. Orphanet J Rare Dis. 2015 Aug 4;10:93. doi: 10.1186/s13023-015-0310-1. Orphanet J Rare Dis. 2015. PMID: 26238698 Free PMC article. Review.
Malignant hyperthermia (MH) is a pharmacogenetic disorder of skeletal muscle that presents as a hypermetabolic response to potent volatile anesthetic gases such as halothane, sevoflurane, desflurane, isoflurane and the depolarizing muscle relaxant succinylcholine, and rarely, in …
Malignant hyperthermia (MH) is a pharmacogenetic disorder of skeletal muscle that presents as a hypermetabolic response to potent volatile a …
Influenza virus-related critical illness: pathophysiology and epidemiology.
Kalil AC, Thomas PG. Kalil AC, et al. Crit Care. 2019 Jul 19;23(1):258. doi: 10.1186/s13054-019-2539-x. Crit Care. 2019. PMID: 31324202 Free PMC article. Review.
In humans, the respiratory epithelium is the only site where the hemagglutinin (HA) molecule is effectively cleaved, generating infectious virus particles. Virus transmission occurs through a susceptible individual's contact with aerosols or respiratory fomites from an inf …
In humans, the respiratory epithelium is the only site where the hemagglutinin (HA) molecule is effectively cleaved, generating infectious v …
Malignant hyperthermia: update on susceptibility testing.
Litman RS, Rosenberg H. Litman RS, et al. JAMA. 2005 Jun 15;293(23):2918-24. doi: 10.1001/jama.293.23.2918. JAMA. 2005. PMID: 15956637
Researchers have begun to map mutations within the ryanodine receptor gene (chromosome 19q13.1) responsible for conferring MH susceptibility. Ryanodine receptor mutations are found in at least 25% of known MH susceptible individuals in North America. Mutation …
Researchers have begun to map mutations within the ryanodine receptor gene (chromosome 19q13.1) responsible for conferring MH susc …
Rhabdomyolysis: a genetic perspective.
Scalco RS, Gardiner AR, Pitceathly RD, Zanoteli E, Becker J, Holton JL, Houlden H, Jungbluth H, Quinlivan R. Scalco RS, et al. Orphanet J Rare Dis. 2015 May 2;10:51. doi: 10.1186/s13023-015-0264-3. Orphanet J Rare Dis. 2015. PMID: 25929793 Free PMC article. Review.
Rhabdomyolysis (RM) is a clinical emergency characterized by fulminant skeletal muscle damage and release of intracellular muscle components into the blood stream leading to myoglobinuria and, in severe cases, acute renal failure. ...
Rhabdomyolysis (RM) is a clinical emergency characterized by fulminant skeletal muscle damage and release of intracellular muscle com …
Statins, myalgia, and rhabdomyolysis.
Tournadre A. Tournadre A. Joint Bone Spine. 2020 Jan;87(1):37-42. doi: 10.1016/j.jbspin.2019.01.018. Epub 2019 Feb 6. Joint Bone Spine. 2020. PMID: 30735805
Statin-associated muscle symptoms (SAMSs) vary considerably in frequency and severity, with a spectrum extending from myalgia with normal creatine kinase (CK) levels or asymptomatic hyperCKemia to potentially life-threatening rhabdomyolysis and necrotizing autoimmune myopa …
Statin-associated muscle symptoms (SAMSs) vary considerably in frequency and severity, with a spectrum extending from myalgia with normal cr …
Malignant hyperthermia.
Rosenberg H, Davis M, James D, Pollock N, Stowell K. Rosenberg H, et al. Orphanet J Rare Dis. 2007 Apr 24;2:21. doi: 10.1186/1750-1172-2-21. Orphanet J Rare Dis. 2007. PMID: 17456235 Free PMC article. Review.
Due to ATP depletion, the muscle membrane integrity is compromised leading to hyperkalemia and rhabdomyolysis. In most cases, the syndrome is caused by a defect in the ryanodine receptor. Over 90 mutations have been identified in the RYR-1 gene located on chromosome …
Due to ATP depletion, the muscle membrane integrity is compromised leading to hyperkalemia and rhabdomyolysis. In most cases, the syn …
Ryanodine receptor 1-related disorders: an historical perspective and proposal for a unified nomenclature.
Lawal TA, Todd JJ, Witherspoon JW, Bönnemann CG, Dowling JJ, Hamilton SL, Meilleur KG, Dirksen RT. Lawal TA, et al. Skelet Muscle. 2020 Nov 16;10(1):32. doi: 10.1186/s13395-020-00243-4. Skelet Muscle. 2020. PMID: 33190635 Free PMC article. Review.
The RYR1 gene, which encodes the sarcoplasmic reticulum calcium release channel or type 1 ryanodine receptor (RyR1) of skeletal muscle, was sequenced in 1988 and RYR1 variations that impair calcium homeostasis and increase susceptibility to malignant hyperthermia we …
The RYR1 gene, which encodes the sarcoplasmic reticulum calcium release channel or type 1 ryanodine receptor (RyR1) of skeletal muscl …
Next-Generation Sequencing to Diagnose Muscular Dystrophy, Rhabdomyolysis, and HyperCKemia.
Wu L, Brady L, Shoffner J, Tarnopolsky MA. Wu L, et al. Can J Neurol Sci. 2018 May;45(3):262-268. doi: 10.1017/cjn.2017.286. Epub 2018 Jan 31. Can J Neurol Sci. 2018. PMID: 29382405
Patients were categorized by the reason of referral (1) muscle weakness (n=135), (2) recurrent episodes of rhabdomyolysis (n=18), or (3) idiopathic hyperCKemia (n=16). ...CONCLUSIONS: This study shows that NGS can be a useful tool in the molecular workup of patients …
Patients were categorized by the reason of referral (1) muscle weakness (n=135), (2) recurrent episodes of rhabdomyolysis (n=1 …
Muscle Ultrasound Abnormalities in Individuals with RYR1-Related Malignant Hyperthermia Susceptibility.
van den Bersselaar LR, van Alfen N, Kruijt N, Kamsteeg EJ, Fernandez-Garcia MA, Treves S, Riazi S, Yang CY, Malagon I, van Eijk LT, van Engelen BGM, Scheffer GJ, Jungbluth H, Snoeck MMJ, Voermans NC. van den Bersselaar LR, et al. J Neuromuscul Dis. 2023;10(4):541-554. doi: 10.3233/JND-230018. J Neuromuscul Dis. 2023. PMID: 37154182 Free PMC article.
BACKGROUND: Variants in RYR1, the gene encoding the ryanodine receptor-1, can give rise to a wide spectrum of neuromuscular conditions. Muscle imaging abnormalities have been demonstrated in isolated cases of patients with a history of RYR1-related malignant hyperthermia ( …
BACKGROUND: Variants in RYR1, the gene encoding the ryanodine receptor-1, can give rise to a wide spectrum of neuromuscular condition …
An update on the malignant hyperthermia syndrome.
Rosenberg H, Fletcher JE. Rosenberg H, et al. Ann Acad Med Singap. 1994 Nov;23(6 Suppl):84-97. Ann Acad Med Singap. 1994. PMID: 7710242 Review.
In humans, MH is inherited in an autosomal dominant fashion; in swine, the principal model for MH, it is in a recessive fashion. Those with MH susceptibility usually are asymptomatic except in the presence of certain "triggering" anaesthetic agents such as isoflurane, enfl …
In humans, MH is inherited in an autosomal dominant fashion; in swine, the principal model for MH, it is in a recessive fashion. Those with …
43 results