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Male preponderance of patients testing positive for malignant hyperthermia susceptibility.

Islander, Gunilla LU ; Rydenfelt, K; Ranklev Twetman, Eva LU and Bodelsson, Mikael LU (2007) In Acta Anaesthesiologica Scandinavica 51(5). p.614-620
Abstract
Malignant hyperthermia susceptibility is diagnosed using an in vitro contracture test (IVCT). In families in which the mutation is known, genetic tests are also available. The inheritance pattern is regarded as autosomal dominant, which predicts equal proportions of men and women affected. The aim of this study was to investigate whether there were sex differences in the diagnostic outcome of the 1407 patients tested for malignant hyperthermia in Sweden between 1985 and 2005. Methods: Information about sex, diagnosis, IVCT result and kinship was analysed. Comparisons were made between the two sexes. Probands and relatives were analysed separately in order to eliminate bias caused by the type of surgery performed in the two sexes. Results:... (More)
Malignant hyperthermia susceptibility is diagnosed using an in vitro contracture test (IVCT). In families in which the mutation is known, genetic tests are also available. The inheritance pattern is regarded as autosomal dominant, which predicts equal proportions of men and women affected. The aim of this study was to investigate whether there were sex differences in the diagnostic outcome of the 1407 patients tested for malignant hyperthermia in Sweden between 1985 and 2005. Methods: Information about sex, diagnosis, IVCT result and kinship was analysed. Comparisons were made between the two sexes. Probands and relatives were analysed separately in order to eliminate bias caused by the type of surgery performed in the two sexes. Results: Males, more than females, revealed a pathological outcome in IVCT. Amongst male relatives, the fraction of pathological outcome in IVCT was 0.70 [95% confidence interval (CI), 0.66-0.74]; the corresponding value for females was 0.40 (95% CI, 0.36-0.44). Conclusion: A significant difference was observed in the sex distribution of outcome of IVCT, with significantly more males revealing a pathological IVCT. This indicates the influence of one or several factors related to sex in the outcome of IVCT, for example different expression of calcium handling proteins in the sexes, a complex pattern of inheritance or unknown environmental factors. (Less)
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author
organization
publishing date
type
Contribution to journal
publication status
published
subject
keywords
diagnosis, malignant hyperthermia, sex, factors, in vitro contracture test
in
Acta Anaesthesiologica Scandinavica
volume
51
issue
5
pages
614 - 620
publisher
Wiley-Blackwell
external identifiers
  • wos:000245389500016
  • scopus:34147156734
ISSN
0001-5172
DOI
10.1111/j.1399-6576.2007.01293.x
language
English
LU publication?
yes
id
5f26d6fe-6c56-4a16-9843-4d27791b7395 (old id 167661)
alternative location
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=17430325&dopt=Abstract
date added to LUP
2007-07-09 16:22:04
date last changed
2017-03-26 03:34:59
@article{5f26d6fe-6c56-4a16-9843-4d27791b7395,
  abstract     = {Malignant hyperthermia susceptibility is diagnosed using an in vitro contracture test (IVCT). In families in which the mutation is known, genetic tests are also available. The inheritance pattern is regarded as autosomal dominant, which predicts equal proportions of men and women affected. The aim of this study was to investigate whether there were sex differences in the diagnostic outcome of the 1407 patients tested for malignant hyperthermia in Sweden between 1985 and 2005. Methods: Information about sex, diagnosis, IVCT result and kinship was analysed. Comparisons were made between the two sexes. Probands and relatives were analysed separately in order to eliminate bias caused by the type of surgery performed in the two sexes. Results: Males, more than females, revealed a pathological outcome in IVCT. Amongst male relatives, the fraction of pathological outcome in IVCT was 0.70 [95% confidence interval (CI), 0.66-0.74]; the corresponding value for females was 0.40 (95% CI, 0.36-0.44). Conclusion: A significant difference was observed in the sex distribution of outcome of IVCT, with significantly more males revealing a pathological IVCT. This indicates the influence of one or several factors related to sex in the outcome of IVCT, for example different expression of calcium handling proteins in the sexes, a complex pattern of inheritance or unknown environmental factors.},
  author       = {Islander, Gunilla and Rydenfelt, K and Ranklev Twetman, Eva and Bodelsson, Mikael},
  issn         = {0001-5172},
  keyword      = {diagnosis,malignant hyperthermia,sex,factors,in vitro contracture test},
  language     = {eng},
  number       = {5},
  pages        = {614--620},
  publisher    = {Wiley-Blackwell},
  series       = {Acta Anaesthesiologica Scandinavica},
  title        = {Male preponderance of patients testing positive for malignant hyperthermia susceptibility.},
  url          = {http://dx.doi.org/10.1111/j.1399-6576.2007.01293.x},
  volume       = {51},
  year         = {2007},
}