Malignant hyperthermia: a review

scientific article (publication date: 2015)

Malignant hyperthermia: a review is …
instance of (P31):
review articleQ7318358
scholarly articleQ13442814

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P6179Dimensions Publication ID1026482268
P356DOI10.1186/S13023-015-0310-1
P932PMC publication ID4524368
P698PubMed publication ID26238698
P5875ResearchGate publication ID281816894

P50authorKathryn StowellQ52145973
Anja H SchiemannQ73905694
P2093author name stringHenry Rosenberg
Neil Pollock
Terasa Bulger
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S-glutathionylation decreases Mg2+ inhibition and S-nitrosylation enhances Ca2+ activation of RyR1 channelsQ44550513
The role of sympathetic activity in initiating malignant hyperthermiaQ44686206
Stress-induced increase in skeletal muscle force requires protein kinase A phosphorylation of the ryanodine receptorQ44740208
N-terminal region of FKBP12 is essential for binding to the skeletal ryanodine receptor.Q44807437
Ascending tonic-clonic syndrome secondary to intrathecal OmnipaqueQ44984518
Comparative analysis of in vitro contracture tests with ryanodine and a combination of ryanodine with either halothane or caffeine: a comparative investigation in malignant hyperthermiaQ45021452
Molecular genetic detection of susceptibility to malignant hyperthermia in Belgian familiesQ45126860
Dyspedic mouse skeletal muscle expresses major elements of the triadic junction but lacks detectable ryanodine receptor protein and functionQ45256995
Hyperkalemic cardiac arrest after cardiopulmonary bypass in a child with unsuspected duchenne muscular dystrophyQ45280365
Screening of the entire ryanodine receptor type 1 coding region for sequence variants associated with malignant hyperthermia susceptibility in the north american populationQ45282848
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Categorizing genetic tests to identify their ethical, legal, and social implicationsQ45305010
Clinical presentation, treatment, and complications of malignant hyperthermia in North America from 1987 to 2006.Q45821365
Malignant hyperthermia on ICU – sudden attack of the “snake”.Q46172931
Muscle biopsy and in vitro contracture test in subjects with idiopathic HyperCKemia.Q46350465
King-denborough syndrome caused by a novel mutation in the ryanodine receptor gene.Q46395272
PMUT: a web-based tool for the annotation of pathological mutations on proteins.Q46477731
Short-term sevoflurane sedation using the Anaesthetic Conserving Device after cardiothoracic surgeryQ46578374
Junctate, an inositol 1,4,5-triphosphate receptor associated protein, is present in rodent sperm and binds TRPC2 and TRPC5 but not TRPC1 channels.Q46695331
Identification and biochemical characterization of a novel ryanodine receptor gene mutation associated with malignant hyperthermiaQ46796424
Heat- and anesthesia-induced malignant hyperthermia in an RyR1 knock-in mouse.Q46801191
Sevoflurane is less sensitive than halothane for in vitro detection of malignant hyperthermia susceptibilityQ47749572
Functional characterisation of the R2452W ryanodine receptor variant associated with malignant hyperthermia susceptibility.Q47834611
Clarifying the role of activated charcoal filters in preparing an anaesthetic workstation for malignant hyperthermia-susceptible patients.Q47919022
Health worker exposure risk during inhalation sedation with sevoflurane using the (AnaConDa®) anaesthetic conserving deviceQ47923256
Functional characterization of 2 known ryanodine receptor mutations causing malignant hyperthermia.Q47933738
Volatile isoflurane sedation in cerebrovascular intensive care patients using AnaConDa(®): effects on cerebral oxygenation, circulation, and pressureQ48120718
Ecstacy-induced delayed rhabdomyolysis and neuroleptic malignant syndrome in a patient with a novel variant in the ryanodine receptor type 1 geneQ48151960
Preparation of Datex-Ohmeda Aestiva and Aisys anaesthetic machines for use in malignant hyperthermia susceptible patients.Q48163267
Malignant hyperthermia: human stress triggeringQ48238790
John H. Eisenach, M.D., recipient of the 2008 Presidential Scholar AwardQ48320216
Prevalence of malignant hyperthermia due to anesthesia in New York State, 2001-2005.Q48406847
Cardiac arrests and deaths associated with malignant hyperthermia in north america from 1987 to 2006: a report from the north american malignant hyperthermia registry of the malignant hyperthermia association of the United StatesQ48506656
Masseter muscle rigidity associated with glycine1306-to-alanine mutation in the adult muscle sodium channel alpha-subunit geneQ49251027
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STIM1 negatively regulates Ca²⁺ release from the sarcoplasmic reticulum in skeletal myotubesQ50998521
Multiple interacting gene products may influence susceptibility to malignant hyperthermia.Q51354595
A novel ryanodine receptor mutation and genotype-phenotype correlation in a large malignant hyperthermia New Zealand Maori pedigree.Q51392443
Malignant hyperthermia in infancy and identification of novel RYR1 mutation.Q51400416
In vitro contracture test for diagnosis of malignant hyperthermia following the protocol of the European MH Group: results of testing patients surviving fulminant MH and unrelated low-risk subjects. The European Malignant Hyperthermia Group.Q51536228
Clinical reassessment of malignant hyperthermia in Abitibi-Témiscamingue.Q51539915
Activated charcoal effectively removes inhaled anesthetics from modern anesthesia machinesQ40326035
Ca2+ signaling in HEK-293 and skeletal muscle cells expressing recombinant ryanodine receptors harboring malignant hyperthermia and central core disease mutations.Q40462256
Detection of proton release from cultured human myotubes to identify malignant hyperthermia susceptibilityQ40623830
Malignant hyperthermia: a review of published casesQ40832265
SRP-27 is a novel component of the supramolecular signalling complex involved in skeletal muscle excitation-contraction coupling.Q33307042
TRPC3-interacting triadic proteins in skeletal muscleQ33316168
The role of CACNA1S in predisposition to malignant hyperthermiaQ33510262
Ryanodine receptor mutations in malignant hyperthermia and central core diseaseQ33903152
A malignant hyperthermia-inducing mutation in RYR1 (R163C): alterations in Ca2+ entry, release, and retrograde signaling to the DHPR.Q33922807
A malignant hyperthermia-inducing mutation in RYR1 (R163C): consequent alterations in the functional properties of DHPR channelsQ33922848
Serotonin syndrome and other serotonergic disordersQ33967265
Malignant hyperthermia: advances in clinical management and diagnosisQ33992099
Abnormal intracellular ca(2+)homeostasis and diseaseQ34003108
Store-operated Ca2+ entry in malignant hyperthermia-susceptible human skeletal muscle.Q34055934
RYR1 mutations causing central core disease are associated with more severe malignant hyperthermia in vitro contracture test phenotypesQ34139686
Dantrolene in the treatment of MDMA-related hyperpyrexia: a systematic reviewQ34140813
Functional Defects in Six Ryanodine Receptor Isoform-1 (RyR1) Mutations Associated with Malignant Hyperthermia and Their Impact on Skeletal Excitation-Contraction CouplingQ34195030
Identical de novo mutation in the type 1 ryanodine receptor gene associated with fatal, stress-induced malignant hyperthermia in two unrelated familiesQ34216462
Effect of prior exercise on thermal sensitivity of malignant hyperthermia-susceptible muscleQ34307851
Functional analysis of the R1086H malignant hyperthermia mutation in the DHPR reveals an unexpected influence of the III-IV loop on skeletal muscle EC coupling.Q34327401
A clinical grading scale to predict malignant hyperthermia susceptibilityQ34329778
Phosphorylation of serine 2843 in ryanodine receptor-calcium release channel of skeletal muscle by cAMP-, cGMP- and CaM-dependent protein kinaseQ34355057
Sarcolemmal-restricted localization of functional ClC-1 channels in mouse skeletal muscleQ34368458
Identification of novel mutations in the ryanodine-receptor gene (RYR1) in malignant hyperthermia: genotype-phenotype correlation.Q34384665
The sensitivity and specificity of the caffeine-halothane contracture test: a report from the North American Malignant Hyperthermia Registry. The North American Malignant Hyperthermia Registry of MHAUS.Q34462229
Central core disease is due to RYR1 mutations in more than 90% of patients.Q34514718
Ca2+ release in muscle fibers expressing R4892W and G4896V type 1 ryanodine receptor disease mutantsQ34545457
Pathophysiological role of the serotonin system in malignant hyperthermiaQ34552183
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Heat stroke: implications for critical care and anaesthesiaQ34687446
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Postoperative malignant hyperthermia: an analysis of cases from the North American Malignant Hyperthermia RegistryQ34863829
Stac adaptor proteins regulate trafficking and function of muscle and neuronal L-type Ca2+ channelsQ34985729
Functional annotations improve the predictive score of human disease-related mutations in proteinsQ34985914
Fatal malignant hyperthermia-like syndrome with rhabdomyolysis complicating the presentation of diabetes mellitus in adolescent malesQ35141281
Genetic risk for malignant hyperthermia in non-anesthesia-induced myopathiesQ35209452
Results of in vitro contracture tests for the diagnosis of malignant hyperthermia susceptibility in monozygote twins.Q51541098
Hyperkalemic cardiac arrest during anesthesia in infants and children with occult myopathies.Q51554106
Comparison of the segregation of the RYR1 C1840T mutation with segregation of the caffeine/halothane contracture test results for malignant hyperthermia susceptibility in a large Manitoba Mennonite family.Q51579632
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Rhabdomyolysis and acute renal failure in unsuspected malignant hyperpyrexia.Q51662252
Improved noninvasive diagnostic testing for malignant hyperthermia susceptibility from a combination of metabolites determined in vivo with 31P-magnetic resonance spectroscopy.Q51665029
Malignant hyperthermia: halothane- and calcium-induced calcium release in skeletal muscleQ51671473
Sources of variability in halothane and caffeine contracture tests for susceptibility to malignant hyperthermiaQ51684557
Prediction of malignant hyperthermia susceptibility in low-risk subjects. An epidemiologic investigation of caffeine halothane contracture responses. The North American Malignant Hyperthermia Registry.Q51698452
Muscle activity, pH and malignant hyperthermia.Q51712413
Fatty acids markedly lower the threshold for halothane-induced calcium release from the terminal cisternae in human and porcine normal and malignant hyperthermia susceptible skeletal muscle.Q51719802
Anesthesia in malignant hyperthermia susceptible patients.Q51744327
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Human malignant hyperthermia: awake episodes and correction by dantrolene.Q51876463
Two central core disease (CCD) deletions in the C-terminal region of RYR1 alter muscle excitation-contraction (EC) coupling by distinct mechanisms.Q52573383
Anesthetic-induced malignant hyperpyrexia in children.Q52729480
King–Denborough syndrome with and without mutations in the skeletal muscle ryanodine receptor (RYR1) geneQ57053868
Prediction of Malignant Hyperthermia Susceptibility in Low-risk Subjects An Epidemiologic Investigation of Caffeine Halothane Contracture ResponsesQ57529662
Heat stroke and malignant hyperpyrexiaQ70378972
A protocol for the investigation of malignant hyperpyrexia (MH) susceptibility. The European Malignant Hyperpyrexia GroupQ70639436
Malignant hyperthermia masked by capnographic monitoringQ72246225
Should we use muscle biopsy to diagnose malignant hyperthermia susceptibility?Q72860449
A multicenter study of 4-chloro-m-cresol for diagnosing malignant hyperthermia susceptibilityQ73332927
Hemodynamic and metabolic alterations in response to graded exercise in a patient susceptible to malignant hyperthermiaQ73363900
Perioperative severe rhabdomyolysis revealing susceptibility to malignant hyperthermiaQ74110539
Dantrolene in malignant hyperthermia (MH)-susceptible patients with exaggerated exercise stressQ74254707
Malignant hyperthermiaQ79074845
Malignant hyperthermia and central core disease causative mutations in Swedish patientsQ79324990
In vivo and in vitro characterization of skeletal muscle metabolism in patients with statin-induced adverse effectsQ80016136
Native American myopathy: congenital myopathy with cleft palate, skeletal anomalies, and susceptibility to malignant hyperthermiaQ81454581
Epigenetic allele silencing unveils recessive RYR1 mutations in core myopathiesQ35221453
Type 1 ryanodine receptor knock-in mutation causing central core disease of skeletal muscle also displays a neuronal phenotypeQ35673620
Gene dose influences cellular and calcium channel dysregulation in heterozygous and homozygous T4826I-RYR1 malignant hyperthermia-susceptible muscleQ35704843
Next-generation Sequencing of RYR1 and CACNA1S in Malignant Hyperthermia and Exertional Heat IllnessQ35756769
Mice expressing T4826I-RYR1 are viable but exhibit sex- and genotype-dependent susceptibility to malignant hyperthermia and muscle damageQ35787753
Temperature and RyR1 regulate the activation rate of store-operated Ca²+ entry current in myotubesQ36105323
Triadin binding to the C-terminal luminal loop of the ryanodine receptor is important for skeletal muscle excitation contraction couplingQ36296083
Complications associated with the administration of dantrolene 1987 to 2006: a report from the North American Malignant Hyperthermia Registry of the Malignant Hyperthermia Association of the United StatesQ36398823
Mutations in RYR1 in malignant hyperthermia and central core diseaseQ36569488
Nonspecific sarcolemmal cation channels are critical for the pathogenesis of malignant hyperthermiaQ36615166
Dantrolene-induced inhibition of skeletal L-type Ca2+ current requires RyR1 expressionQ36665389
The skeletal L-type Ca(2+) current is a major contributor to excitation-coupled Ca(2+) entryQ37023260
Advanced technologies and devices for inhalational anesthetic drug dosingQ37050418
A retrograde signal from RyR1 alters DHP receptor inactivation and limits window Ca2+ release in muscle fibers of Y522S RyR1 knock-in miceQ37132911
A recessive ryanodine receptor 1 mutation in a CCD patient increases channel activityQ37142856
Checking your SOCCs and feet: the molecular mechanisms of Ca2+ entry in skeletal muscleQ37305499
Calsequestrin-1: a new candidate gene for malignant hyperthermia and exertional/environmental heat strokeQ37471099
Inhalational anesthesia vs total intravenous anesthesia (TIVA) for pediatric anesthesia.Q37488453
Regulation of the skeletal muscle ryanodine receptor/Ca2+-release channel RyR1 by S-palmitoylationQ37653345
Malignant hyperthermia: pharmacology of triggeringQ37882233
Dominant and recessive RYR1 mutations in adults with core lesions and mild muscle symptoms.Q37889772
Core myopathiesQ37968743
Minimally invasive metabolic testing for malignant hyperthermia susceptibility: a systematic review of the methodology and resultsQ38088716
Malignant hyperthermia in Canada: characteristics of index anesthetics in 129 malignant hyperthermia susceptible probandsQ38120619
Unexpected MH deaths without exposure to inhalation anesthetics in pediatric patientsQ38121132
Exertional heat stroke, rhabdomyolysis and susceptibility to malignant hyperthermia.Q38134154
DNA testing for malignant hyperthermia: the reality and the dreamQ38180343
Malignant hyperthermia deaths related to inadequate temperature monitoring, 2007-2012: a report from the North American malignant hyperthermia registry of the malignant hyperthermia association of the United StatesQ38255512
Genetics professionals' opinions of whole-genome sequencing in the newborn periodQ39107529
Genetic counselors' views and experiences with the clinical integration of genome sequencingQ39222177
Sequence capture and massively parallel sequencing to detect mutations associated with malignant hyperthermia.Q39266388
Functional studies of RYR1 mutations in the skeletal muscle ryanodine receptor using human RYR1 complementary DNA.Q39704856
Functional properties of RYR1 mutations identified in Swedish patients with malignant hyperthermia and central core disease.Q39741966
Functional characterization of ryanodine receptor (RYR1) sequence variants using a metabolic assay in immortalized B-lymphocytesQ39887722
Reduced threshold for luminal Ca2+ activation of RyR1 underlies a causal mechanism of porcine malignant hyperthermiaQ39978369
Characterization of recessive RYR1 mutations in core myopathiesQ40238382
P275copyright licenseCreative Commons Attribution 4.0 InternationalQ20007257
P6216copyright statuscopyrightedQ50423863
P433issue1
P407language of work or nameEnglishQ1860
P921main subjectmalignant hyperthermiaQ1585081
P304page(s)93
P577publication date2015-08-04
P1433published inOrphanet Journal of Rare DiseasesQ15756117
P1476titleMalignant hyperthermia: a review
P478volume10

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