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  • 1
    Electronic Resource
    Electronic Resource
    POSTPARTUM RENAL FAILURE ASSOCIATED WITH ECLAMPSIA AND PENICILLIN HYPERSENSITIVITY (1975)
    Oxford, UK : Blackwell Publishing Ltd
    BJOG 82 (1975), S. 0 
    Details
    ISSN: 1471-0528
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: A case of acute renal failure associated with disseminated: ntravascular coagulation occurring immediately post partum is reported. The aet ological role of the associated eclampsia together with evidence for a hypersensitivity reaction to ampicillin is discussed.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1111/j.1471-0528.1975.tb00583.x
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    Paper (German National Licenses)
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  • 2
    Electronic Resource
    Electronic Resource
    Malignant hyperthermia—a large kindred linked to the RYR1 gene (1996)
    Oxford, UK : Blackwell Publishing Ltd
    Anaesthesia 51 (1996), S. 0 
    Details
    ISSN: 1365-2044
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Malignant hyperthermia susceptibility is genetically heterogeneous. The ryanodine receptor gene on the long arm of chromosome 19 represents an important candidate gene but not all families with malignant hyperthermia demonstrate ryanodine receptor mutations or linkage to this region of 19q. Linkage to chromosome 17 in the region of the adult muscle sodium channel α subunit gene has been suggested in some families; others are not linked to either of these loci. For most families the in vitro muscle contracture test remains the only reliable method of predicting susceptibility to malignant hyperthermia. We have performed linkage analysis in a large family group with malignant hyperthermia in which the in vitro muscle contracture test had been carried out using the procedure standardised by the European Malignant Hyperthermia Group. None of the published ryanodine receptor gene mutations associated with malignant hyperthermia susceptibility were detected in affected individuals but linkage to intragenic ryanodine receptor markers strongly suggest that this gene is involved in malignant hyperthermia susceptibility in this family. This enabled accurate predictive testing by DNA analysis in 11 untested subjects at 50% risk.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1111/j.1365-2044.1996.tb07647.x
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    Paper (German National Licenses)
    Fulltext
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