The histopathological spectrum of malignant hyperthermia and rhabdomyolysis due to RYR1 mutations
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DOI: 10.1007/s00415-019-09209-z
Abstract: ObjectiveThe histopathological features of malignant hyperthermia (MH) and non-anaesthetic (mostly exertional) rhabdomyolysis (RM) due to RYR1 mutations have only been reported in a few cases.MethodsWe performed a retrospective multi-centre cohort study focussing on the histopathological… read more here.
Keywords: due ryr1; malignant hyperthermia; ryr1 mutations; ryr1 ... See more keywords
Overlapping Mechanisms of Exertional Heat Stroke and Malignant Hyperthermia: Evidence vs. Conjecture
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DOI: 10.1007/s40279-020-01318-4
Abstract: Exertional heat stroke (EHS) and malignant hyperthermia (MH) are life-threatening conditions, triggered by different environmental stimuli that share several clinical symptoms and pathophysiological features. EHS manifests during physical activity normally, but not always, in hot… read more here.
Keywords: malignant hyperthermia; evidence; overlapping mechanisms; heat stroke ... See more keywords
Whole exome sequencing revealed a pathogenic variant in a gene related to malignant hyperthermia in a Vietnamese cardiac surgical patient: A case report
Sign Up to like & getrecommendations! Published in 2019 at "Annals of Medicine and Surgery"
DOI: 10.1016/j.amsu.2019.10.030
Abstract: Introduction Malignant hyperthermia (MH) is a rare autosomal dominant pharmacogenetic disorder which known associated with some genes such as CACNA1S and RYR1. Using whole exome analysis, we aimed to find out the genetic variant data… read more here.
Keywords: malignant hyperthermia; case; whole exome; gene ... See more keywords
A multi-dimensional analysis of genotype-phenotype discordance in malignant hyperthermia susceptibility.
Sign Up to like & getrecommendations! Published in 2020 at "British journal of anaesthesia"
DOI: 10.1016/j.bja.2020.07.042
Abstract: BACKGROUND Malignant hyperthermia (MH) susceptibility is an inherited condition, diagnosed either by the presence of a pathogenic genetic variant or by in vitro caffeine-halothane contracture testing. Through a multi-dimensional approach, we describe the implications of discordance… read more here.
Keywords: susceptibility; variant; multi dimensional; malignant hyperthermia ... See more keywords
Magnesium sulfate - An effective agent could delay the progression of fulminant malignant hyperthermia.
Sign Up to like & getrecommendations! Published in 2019 at "Medical hypotheses"
DOI: 10.1016/j.mehy.2019.02.020
Abstract: Malignant hyperthermia (MH) is a life-threatening disease that occurs during general anaesthesia following exposure to succinylcholine (SCh), a depolarizing muscle relaxant, and volatile anaesthetics. Susceptibility to MH most commonly arises from mutations in the RyR1… read more here.
Keywords: magnesium; progression; magnesium sulfate; malignant hyperthermia ... See more keywords
Malignant Hyperthermia: Review of Diagnosis and Treatment during Cardiac Surgery with Cardiopulmonary Bypass.
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DOI: 10.1053/j.jvca.2018.03.029
Abstract: Malignant hyperthermia is a potentially life-threatening hypermetabolic disorder, often induced by exposure to volatile anesthetics and succinylcholine. There are few reports of malignant hyperthermia during cardiopulmonary bypass. Here the authors review available literature including case… read more here.
Keywords: hyperthermia; diagnosis; cardiopulmonary bypass; malignant hyperthermia ... See more keywords
Use of Cardiopulmonary Bypass for Treatment of Malignant Hyperthermia.
Sign Up to like & getrecommendations! Published in 2019 at "Journal of cardiothoracic and vascular anesthesia"
DOI: 10.1053/j.jvca.2019.11.010
Abstract: Abstract MALIGNANT HYPERTHERMIA (MH) is a well-described and known complication of modern anesthesia, with volatile anesthestics and succinylcholine recognized as triggering agents. Incidence rates vary, but it is estimated to occur in 1:50,000-100,000 individuals undergoing… read more here.
Keywords: hyperthermia; treatment; cardiopulmonary bypass; use cardiopulmonary ... See more keywords
Malignant Hyperthermia in the Post-Genomics Era: New Perspectives on an Old Concept.
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DOI: 10.1097/aln.0000000000001878
Abstract: This article reviews advancements in the genetics of malignant hyperthermia, new technologies and approaches for its diagnosis, and the existing limitations of genetic testing for malignant hyperthermia. It also reviews the various RYR1-related disorders and… read more here.
Keywords: hyperthermia; malignant hyperthermia; era new; hyperthermia post ... See more keywords
Genomic Screening for Malignant Hyperthermia Susceptibility
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DOI: 10.1097/aln.0000000000003547
Abstract: It is timely to consider the utility and practicability of screening for malignant hyperthermia susceptibility using genomic testing. Here the authors pose a simple, but bold question: what would it take to end deaths from… read more here.
Keywords: screening malignant; malignant hyperthermia; hyperthermia; genomic screening ... See more keywords
Referral Indications for Malignant Hyperthermia Susceptibility Diagnostics in Patients without Adverse Anesthetic Events in the Era of Next-generation Sequencing
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DOI: 10.1097/aln.0000000000004199
Abstract: Background: The introduction of next-generation sequencing into the diagnosis of neuromuscular disorders has resulted in an increased number of newly identified RYR1 variants. The hypothesis was that there is an increased referral of patients to… read more here.
Keywords: malignant hyperthermia; history adverse; family; adverse anesthetic ... See more keywords
Malignant hyperthermia: still an issue for neuromuscular diseases?
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DOI: 10.1097/wco.0000000000000592
Abstract: Purpose of review We will give an overview of neuromuscular disorders that can be linked with malignant hyperthermia or malignant hyperthermia-like reactions, and suggest an appropriate approach to interpret the risks. Recent findings An increasing… read more here.
Keywords: neuromuscular diseases; like reactions; hyperthermia; hyperthermia like ... See more keywords