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Clinical reassessment of malignant hyperthermia in Abitibi-Témiscamingue.

https://arctichealth.org/en/permalink/ahliterature208066
Source
Can J Anaesth. 1997 Jul;44(7):696-701
Publication Type
Article
Date
Jul-1997
Author
M. Bachand
N. Vachon
M. Boisvert
F M Mayer
D. Chartrand
Author Affiliation
Department of Anaesthesia, Centre-Hospitalier Rouyn-Noranda, Quebec.
Source
Can J Anaesth. 1997 Jul;44(7):696-701
Date
Jul-1997
Language
English
Publication Type
Article
Keywords
Adolescent
Adult
Caffeine - pharmacology
Child
Disease Susceptibility
Family Characteristics
Female
Halothane - pharmacology
Humans
Male
Malignant Hyperthermia - diagnosis - epidemiology - genetics
Pedigree
Quebec - epidemiology
Risk assessment
Abstract
In 1992, 1812 individuals (1.2% of the population) were labelled at risk for malignant hyperthermia (MH) in seven families from Abitibi-Témiscamingue. To evaluate the effective risk in this population, a multidisciplinary study was undertaken which included clinical, genealogical and molecular aspects. This paper presents the clinical aspects of the study.
For each of the 1546 individuals reached, all anesthetic exposures were screened for elements relevant to MH. Malignant hyperthermia events were analyzed with "the clinical grading scale." All 44 reports of caffeine halothane contracture tests were reappraised. Finally, genealogical study was done to complete each family tree up to the initial French settlers in order to identify links between these seven families through common ancestors.
Following this reassessment, the families were compared and classified into four groups. Two families (1097 individuals) are not considered to be at a higher risk for MH than the population in general. Two families are still considered possibly at risk. Finally, one family (402 individuals) is highly at risk and two other families are probably at risk. Family trees did not show any link up to the colonization of Abitibi-Témiscamingue in the beginning of this Century but common ancestors were found around the 9th generation.
This clinical reassessment will help to focus education and prevention on a much smaller group of individuals still considered potentially at risk for MH. By adequate evaluation of phenotypes, combined with the use of a genealogical approach, it will be possible to target families for molecular research.
Notes
Comment In: Can J Anaesth. 1997 Jul;44(7):685-89232294
PubMed ID
9232296 View in PubMed
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Investigation of malignant hyperthermia susceptibility in Denmark.

https://arctichealth.org/en/permalink/ahliterature212244
Source
Dan Med Bull. 1996 Apr;43(2):111-25
Publication Type
Article
Date
Apr-1996
Author
H. Ording
Author Affiliation
Danish Malignant Hyperthermia Register, Herlev Hospital; Rigshospitalet, Copenhagen.
Source
Dan Med Bull. 1996 Apr;43(2):111-25
Date
Apr-1996
Language
English
Publication Type
Article
Keywords
Animals
Denmark - epidemiology
Disease Susceptibility
Humans
Malignant Hyperthermia - diagnosis - epidemiology
PubMed ID
8741205 View in PubMed
Less detail