Journal Article10.1093/bja/56.11.1267
A protocol for the investigation of malignant hyperpyrexia (mh) susceptibility
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TL;DR: A protocol for investigating malignant hyperpyrexia (MH) susceptibility has been established, allowing diagnoses of MHS, MHN and MHE.
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Abstract: A European Malignant Hyperpyrexia Group has been formed to facilitate exchange of information between centres performing in vitro muscle testing for malignant hyperpyrexia susceptibility. Data have been collected according to a protocol agreed by the Group. Based on these results, test criteria have been established to allow the following diagnoses to be made: MH susceptible (MHS); MH normal (MHN) or MH equivocal (MHE). It is accepted that MHE classified patients will be under permanent review, pending the collection of further data.
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Citations
Adenovirus-mediated expression of myogenic differentiation factor 1 (MyoD) in equine and human dermal fibroblasts enables their conversion to caffeine-sensitive myotubes
M. Fernandez-Fuente,Pilar Martin-Duque,Georges Vassaux,Susan C. Brown,Francesco Muntoni,Cesare M. Terracciano,Richard J. Piercy +6 more
TL;DR: A novel adenoviral vector is described that was used to express equine MyoD in dermal fibroblasts and demonstrated that these cells have a functional excitation-calcium release mechanism and respond in a dose-dependent manner to increasing concentrations of caffeine.
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No evidence of mutations in the CACNA1S gene in the UK malignant hyperthermia population
TL;DR: Defects in CACNA1S are not a major cause of MH in the UK population and diagnostic screening of this gene is unlikely to be of value to UK MH patients in the near future.
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Identification of new polymorphisms in the CACNA1S gene.
Antonella Carsana,Giuliana Fortunato,Claudia De Sarno,Virginia Brancadoro,Francesco Salvatore +4 more
TL;DR: Four novel polymorphisms are identified in the CACNA1S gene that encodes the α1-subunit of the dihydropyridine receptor that are associated with two genetic diseases: malignant hyperthermia and hypokalemic periodic paralysis.
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Test de contracture à l'ionophore A 23187 pour le diagnostic d'hyperthermie maligne
TL;DR: Ces auteurs proposent d'ajouter ce test aux tests de contracture tels qu'ils ont ete definis par le Groupe Europeen d'Hyperthermie Maligne en 1984, concernant les parents consanguins d'un sujet MHS.
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