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We are analyzing https://link.springer.com/article/10.1186/s13023-015-0310-1.

Title:
Malignant hyperthermia: a review | Orphanet Journal of Rare Diseases
Description:
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 humans, to stressors such as vigorous exercise and heat. The incidence of MH reactions ranges from 1:10,000 to 1: 250,000 anesthetics. However, the prevalence of the genetic abnormalities may be as great as one in 400 individuals. MH affects humans, certain pig breeds, dogs and horses. The classic signs of MH include hyperthermia, tachycardia, tachypnea, increased carbon dioxide production, increased oxygen consumption, acidosis, hyperkalaemia, muscle rigidity, and rhabdomyolysis, all related to a hypermetabolic response. The syndrome is likely to be fatal if untreated. An increase in end-tidal carbon dioxide despite increased minute ventilation provides an early diagnostic clue. In humans the syndrome is inherited in an autosomal dominant pattern, while in pigs it is autosomal recessive. Uncontrolled rise of myoplasmic calcium, which activates biochemical processes related to muscle activation leads to the pathophysiologic changes. In most cases, the syndrome is caused by a defect in the ryanodine receptor. Over 400 variants have been identified in the RYR1 gene located on chromosome 19q13.1, and at least 34 are causal for MH. Less than 1 % of variants have been found in CACNA1S but not all of these are causal. Diagnostic testing involves the in vitro contracture response of biopsied muscle to halothane, caffeine, and in some centres ryanodine and 4-chloro-m-cresol. Elucidation of the genetic changes has led to the introduction of DNA testing for susceptibility to MH. Dantrolene sodium is a specific antagonist and should be available wherever general anesthesia is administered. Increased understanding of the clinical manifestation and pathophysiology of the syndrome, has lead to the mortality decreasing from 80 % thirty years ago to <5 % in 2006.
Website Age:
28 years and 1 months (reg. 1997-05-29).

Matching Content Categories {πŸ“š}

  • Education
  • Health & Fitness
  • Science

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Custom-built

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🌠 Phenomenal Traffic: 5M - 10M visitors per month


Based on our best estimate, this website will receive around 5,000,019 visitors per month in the current month.
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How Does Link.springer.com Make Money? {πŸ’Έ}

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Keywords {πŸ”}

pubmed, google, scholar, hyperthermia, malignant, cas, muscle, ryr, patients, central, susceptibility, variants, anesthesia, receptor, ryanodine, skeletal, gene, mutation, mutations, susceptible, syndrome, anesthesiology, release, dantrolene, genetic, clinical, testing, mhs, diagnosis, rhabdomyolysis, disease, core, risk, channel, functional, human, test, protein, individuals, calcium, ccd, ivct, north, patient, sensitivity, anaesth, anesthetic, diagnostic, identified, myopathy,

Topics {βœ’οΈ}

au/mh-resource-kit/w1/i1002692/ t-tubule region 31p-magnetic resonance spectroscopy skeletal excitation-contraction coupling histidine-rich ca2+ protein excitation-coupled ca2+ entry store-operated ca2+ entry calcium-induced calcium release excitation-contraction coupling machinery end-tidal carbon dioxide cam-dependent protein kinase activated charcoal filters vapor-free anesthetic machine sr/er ca2+ -atpase muscle-specific micrornas correlated halothane-induced calcium release c-terminal transmembrane domain halothane-induced ca2+ release myoplasmic free ca2+ mice expressing t4826i-ryr1 ecstacy-induced delayed rhabdomyolysis 5Β mg/kg repeated pro ryr-linked muscle diseases malignant hyperthermia-inducing mutation anesthetic-induced malignant hyperpyrexia stress-induced malignant hyperthermia long-term research interest c-terminal luminal loop ryanodine receptors carrying central core disease org/faqs/molecular-genetics malignant hyperthermia-susceptible muscle central nuclear myopathy human disease-related mutations anesthesia-induced malignant hyperthermia trpc3-interacting triadic proteins excitation-contraction coupling [67] excitation-contraction coupling dramatic life-threatening hyperkalemia open access license org/public/testing/i skeletal ryanodine receptor statin-induced adverse effects post-translational cross-talk heat-induced sudden death post-anesthesia care unit cardiac arrest/death compared skeletal muscle metabolism epigenetic allele silencing ryanodine receptor protein

Questions {❓}

  • Are myotonias and periodic paralyses associated with susceptibility to malignant hyperthermia?
  • Recent advances in the diagnosis of malignant hyperthermia susceptibility: how confident can we be of genetic testing?
  • Recommendations for returning genomic incidental findings?

Schema {πŸ—ΊοΈ}

WebPage:
      mainEntity:
         headline:Malignant hyperthermia: a review
         description: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 humans, to stressors such as vigorous exercise and heat. The incidence of MH reactions ranges from 1:10,000 to 1: 250,000 anesthetics. However, the prevalence of the genetic abnormalities may be as great as one in 400 individuals. MH affects humans, certain pig breeds, dogs and horses. The classic signs of MH include hyperthermia, tachycardia, tachypnea, increased carbon dioxide production, increased oxygen consumption, acidosis, hyperkalaemia, muscle rigidity, and rhabdomyolysis, all related to a hypermetabolic response. The syndrome is likely to be fatal if untreated. An increase in end-tidal carbon dioxide despite increased minute ventilation provides an early diagnostic clue. In humans the syndrome is inherited in an autosomal dominant pattern, while in pigs it is autosomal recessive. Uncontrolled rise of myoplasmic calcium, which activates biochemical processes related to muscle activation leads to the pathophysiologic changes. In most cases, the syndrome is caused by a defect in the ryanodine receptor. Over 400 variants have been identified in the RYR1 gene located on chromosome 19q13.1, and at least 34 are causal for MH. Less than 1Β % of variants have been found in CACNA1S but not all of these are causal. Diagnostic testing involves the in vitro contracture response of biopsied muscle to halothane, caffeine, and in some centres ryanodine and 4-chloro-m-cresol. Elucidation of the genetic changes has led to the introduction of DNA testing for susceptibility to MH. Dantrolene sodium is a specific antagonist and should be available wherever general anesthesia is administered. Increased understanding of the clinical manifestation and pathophysiology of the syndrome, has lead to the mortality decreasing from 80Β % thirty years ago to <5Β % in 2006.
         datePublished:2015-08-04T00:00:00Z
         dateModified:2015-08-04T00:00:00Z
         pageStart:1
         pageEnd:19
         license:https://creativecommons.org/publicdomain/zero/1.0/
         sameAs:https://doi.org/10.1186/s13023-015-0310-1
         keywords:
            Malignant Hyperthermia
            Anesthesia
            Ryanodine receptor
            Medicine/Public Health
            general
            Pharmacology/Toxicology
            Human Genetics
         image:
         isPartOf:
            name:Orphanet Journal of Rare Diseases
            issn:
               1750-1172
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            type:
               Periodical
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            name:BioMed Central
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               name:Henry Rosenberg
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                        name:Department of Medical Education and Clinical Research, Saint Barnabas Medical Center, Livingston, USA
                        type:PostalAddress
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               name:Neil Pollock
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                     name:Palmerston North Hospital
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                        name:Department of Anesthesia and Intensive Care, Palmerston North Hospital, Palmerston North, New Zealand
                        type:PostalAddress
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               name:Anja Schiemann
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                        name:Institute of Fundamental Sciences, Massey University, Palmerston North, New Zealand
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                     address:
                        name:Department of Anesthesia and Intensive Care, Palmerston North Hospital, Palmerston North, New Zealand
                        type:PostalAddress
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               name:Kathryn Stowell
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                     name:Institute of Fundamental Sciences, Massey University
                     address:
                        name:Institute of Fundamental Sciences, Massey University, Palmerston North, New Zealand
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ScholarlyArticle:
      headline:Malignant hyperthermia: a review
      description: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 humans, to stressors such as vigorous exercise and heat. The incidence of MH reactions ranges from 1:10,000 to 1: 250,000 anesthetics. However, the prevalence of the genetic abnormalities may be as great as one in 400 individuals. MH affects humans, certain pig breeds, dogs and horses. The classic signs of MH include hyperthermia, tachycardia, tachypnea, increased carbon dioxide production, increased oxygen consumption, acidosis, hyperkalaemia, muscle rigidity, and rhabdomyolysis, all related to a hypermetabolic response. The syndrome is likely to be fatal if untreated. An increase in end-tidal carbon dioxide despite increased minute ventilation provides an early diagnostic clue. In humans the syndrome is inherited in an autosomal dominant pattern, while in pigs it is autosomal recessive. Uncontrolled rise of myoplasmic calcium, which activates biochemical processes related to muscle activation leads to the pathophysiologic changes. In most cases, the syndrome is caused by a defect in the ryanodine receptor. Over 400 variants have been identified in the RYR1 gene located on chromosome 19q13.1, and at least 34 are causal for MH. Less than 1Β % of variants have been found in CACNA1S but not all of these are causal. Diagnostic testing involves the in vitro contracture response of biopsied muscle to halothane, caffeine, and in some centres ryanodine and 4-chloro-m-cresol. Elucidation of the genetic changes has led to the introduction of DNA testing for susceptibility to MH. Dantrolene sodium is a specific antagonist and should be available wherever general anesthesia is administered. Increased understanding of the clinical manifestation and pathophysiology of the syndrome, has lead to the mortality decreasing from 80Β % thirty years ago to <5Β % in 2006.
      datePublished:2015-08-04T00:00:00Z
      dateModified:2015-08-04T00:00:00Z
      pageStart:1
      pageEnd:19
      license:https://creativecommons.org/publicdomain/zero/1.0/
      sameAs:https://doi.org/10.1186/s13023-015-0310-1
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         Malignant Hyperthermia
         Anesthesia
         Ryanodine receptor
         Medicine/Public Health
         general
         Pharmacology/Toxicology
         Human Genetics
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      isPartOf:
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      author:
            name:Henry Rosenberg
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                  name:Saint Barnabas Medical Center
                  address:
                     name:Department of Medical Education and Clinical Research, Saint Barnabas Medical Center, Livingston, USA
                     type:PostalAddress
                  type:Organization
            type:Person
            name:Neil Pollock
            affiliation:
                  name:Palmerston North Hospital
                  address:
                     name:Department of Anesthesia and Intensive Care, Palmerston North Hospital, Palmerston North, New Zealand
                     type:PostalAddress
                  type:Organization
            type:Person
            name:Anja Schiemann
            affiliation:
                  name:Institute of Fundamental Sciences, Massey University
                  address:
                     name:Institute of Fundamental Sciences, Massey University, Palmerston North, New Zealand
                     type:PostalAddress
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            name:Terasa Bulger
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                  name:Palmerston North Hospital
                  address:
                     name:Department of Anesthesia and Intensive Care, Palmerston North Hospital, Palmerston North, New Zealand
                     type:PostalAddress
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            type:Person
            name:Kathryn Stowell
            affiliation:
                  name:Institute of Fundamental Sciences, Massey University
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                     name:Institute of Fundamental Sciences, Massey University, Palmerston North, New Zealand
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         url:https://www.springernature.com/app-sn/public/images/logo-springernature.png
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      name:Saint Barnabas Medical Center
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         name:Department of Medical Education and Clinical Research, Saint Barnabas Medical Center, Livingston, USA
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      address:
         name:Department of Anesthesia and Intensive Care, Palmerston North Hospital, Palmerston North, New Zealand
         type:PostalAddress
      name:Institute of Fundamental Sciences, Massey University
      address:
         name:Institute of Fundamental Sciences, Massey University, Palmerston North, New Zealand
         type:PostalAddress
      name:Palmerston North Hospital
      address:
         name:Department of Anesthesia and Intensive Care, Palmerston North Hospital, Palmerston North, New Zealand
         type:PostalAddress
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         name:Institute of Fundamental Sciences, Massey University, Palmerston North, New Zealand
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Person:
      name:Henry Rosenberg
      affiliation:
            name:Saint Barnabas Medical Center
            address:
               name:Department of Medical Education and Clinical Research, Saint Barnabas Medical Center, Livingston, USA
               type:PostalAddress
            type:Organization
      name:Neil Pollock
      affiliation:
            name:Palmerston North Hospital
            address:
               name:Department of Anesthesia and Intensive Care, Palmerston North Hospital, Palmerston North, New Zealand
               type:PostalAddress
            type:Organization
      name:Anja Schiemann
      affiliation:
            name:Institute of Fundamental Sciences, Massey University
            address:
               name:Institute of Fundamental Sciences, Massey University, Palmerston North, New Zealand
               type:PostalAddress
            type:Organization
      name:Terasa Bulger
      affiliation:
            name:Palmerston North Hospital
            address:
               name:Department of Anesthesia and Intensive Care, Palmerston North Hospital, Palmerston North, New Zealand
               type:PostalAddress
            type:Organization
      name:Kathryn Stowell
      affiliation:
            name:Institute of Fundamental Sciences, Massey University
            address:
               name:Institute of Fundamental Sciences, Massey University, Palmerston North, New Zealand
               type:PostalAddress
            type:Organization
      email:[email protected]
PostalAddress:
      name:Department of Medical Education and Clinical Research, Saint Barnabas Medical Center, Livingston, USA
      name:Department of Anesthesia and Intensive Care, Palmerston North Hospital, Palmerston North, New Zealand
      name:Institute of Fundamental Sciences, Massey University, Palmerston North, New Zealand
      name:Department of Anesthesia and Intensive Care, Palmerston North Hospital, Palmerston North, New Zealand
      name:Institute of Fundamental Sciences, Massey University, Palmerston North, New Zealand

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