Predictive factors of the contracture test for diagnosing malignant hyperthermia in a Brazilian population sample: a retrospective observational study
Autor(a) principal: | |
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Data de Publicação: | 2023 |
Outros Autores: | , , , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Repositório Institucional da UNIFESP |
Texto Completo: | https://www.sciencedirect.com/science/article/pii/S0104001422000823?via%3Dihub https://repositorio.unifesp.br/11600/67326 |
Resumo: | Introduction: Malignant Hyperthermia (MH) is a pharmacogenetic, hereditary and autosomal dominant syndrome triggered by halogenates/succinylcholine. The In Vitro Contracture Test (IVCT) is the gold standard diagnostic test for MH, and it evaluates abnormal skeletal muscle reactions of susceptible individuals (earlier/greater contracture) when exposed to caffeine/halothane. MH susceptibility episodes and IVCT seem to be related to individual features. Objective: To assess variables that correlate with IVCT in Brazilian patients referred for MH investigation due to a history of personal/family MH. Methods: We examined IVCTs of 80 patients investigated for MH between 2004‒2019. We recorded clinical data (age, sex, presence of muscle weakness or myopathy with muscle biopsy showing cores, genetic evaluation, IVCT result) and IVCT features (initial and final maximum contraction, caffeine/halothane concentration triggering contracture of 0.2g, contracture at caffeine concentration of 2 and 32 mmoL and at 2% halothane, and contraction after 100 Hz stimulation). Results: Mean age of the sample was 35±13.3 years, and most of the subjects were female (n=43 or 54%) and MH susceptible (60%). Of the 20 subjects undergoing genetic investigation, 65% showed variants in RYR1/CACNA1S genes. We found no difference between the positive and negative IVCT groups regarding age, sex, number of probands, presence of muscle weakness or myopathy with muscle biopsy showing cores. Regression analysis revealed that the best predictors of positive IVCT were male sex (+12%), absence of muscle weakness (+20%), and personal MH background (+17%). Conclusions: Positive IVCT results have been correlated to male probands, in accordance with early publications. Furthermore, normal muscle strength has been confirmed as a significant predictor of positive IVCT while investigating suspected MH cases. |
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Mello, Jean Marcel de [UNIFESP]Andrade, Pamela Vieira [UNIFESP]Oliveira, Acary Souza Bulle [UNIFESP]Vainzof, Mariz [UNIFESP]Silva, Helga Cristina Almeida da [UNIFESP]Santos, Joilson Moura [UNIFESP]Amaral, Jose Luiz Gomes do [UNIFESP]http://lattes.cnpq.br/08449188622411022023-04-03T15:11:54Z2023-04-03T15:11:54Z2023-03https://www.sciencedirect.com/science/article/pii/S0104001422000823?via%3Dihubhttps://repositorio.unifesp.br/11600/6732610.1016/j.bjane.2022.06.010Introduction: Malignant Hyperthermia (MH) is a pharmacogenetic, hereditary and autosomal dominant syndrome triggered by halogenates/succinylcholine. The In Vitro Contracture Test (IVCT) is the gold standard diagnostic test for MH, and it evaluates abnormal skeletal muscle reactions of susceptible individuals (earlier/greater contracture) when exposed to caffeine/halothane. MH susceptibility episodes and IVCT seem to be related to individual features. Objective: To assess variables that correlate with IVCT in Brazilian patients referred for MH investigation due to a history of personal/family MH. Methods: We examined IVCTs of 80 patients investigated for MH between 2004‒2019. We recorded clinical data (age, sex, presence of muscle weakness or myopathy with muscle biopsy showing cores, genetic evaluation, IVCT result) and IVCT features (initial and final maximum contraction, caffeine/halothane concentration triggering contracture of 0.2g, contracture at caffeine concentration of 2 and 32 mmoL and at 2% halothane, and contraction after 100 Hz stimulation). Results: Mean age of the sample was 35±13.3 years, and most of the subjects were female (n=43 or 54%) and MH susceptible (60%). Of the 20 subjects undergoing genetic investigation, 65% showed variants in RYR1/CACNA1S genes. We found no difference between the positive and negative IVCT groups regarding age, sex, number of probands, presence of muscle weakness or myopathy with muscle biopsy showing cores. Regression analysis revealed that the best predictors of positive IVCT were male sex (+12%), absence of muscle weakness (+20%), and personal MH background (+17%). Conclusions: Positive IVCT results have been correlated to male probands, in accordance with early publications. Furthermore, normal muscle strength has been confirmed as a significant predictor of positive IVCT while investigating suspected MH cases.Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)0012021_06180-7engSBABrazilian Journal of AnesthesiologySkeletal muscle.AnesthesiaCaffeineHalothaneMalignant hyperthermiaPredictive factors of the contracture test for diagnosing malignant hyperthermia in a Brazilian population sample: a retrospective observational studyinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/article732info:eu-repo/semantics/openAccessreponame:Repositório Institucional da UNIFESPinstname:Universidade Federal de São Paulo (UNIFESP)instacron:UNIFESPEscola Paulista de Medicina (EPM)Neurologia-NeurociênciasCirurgiaMedicinaORIGINALArticle.pdfArticle.pdfapplication/pdf787374${dspace.ui.url}/bitstream/11600/67326/1/Article.pdf6bfb77d06475ee27d231fb6d783ecf97MD51open accessLICENSElicense.txtlicense.txttext/plain; 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IG7Do28gbyBhdXRvcml6YWRvIHNvYiBlc3RhIGxpY2Vuw6dhIG91IHBlbGEgbGVnaXNsYcOnw6NvIGF1dG9yYWwsIMOpIHByb2liaWRvLiAgCgo3LiBBdGVzdGEgcXVlIGEgT2JyYSBzdWJtZXRpZGEgbsOjbyBjb250w6ltIHF1YWxxdWVyIGluZm9ybWHDp8OjbyBjb25maWRlbmNpYWwgc3VhIG91IGRlIHRlcmNlaXJvcy4KCjguIEF0ZXN0YSBxdWUgbyB0cmFiYWxobyBzdWJtZXRpZG8gw6kgb3JpZ2luYWwgZSBmb2kgZWxhYm9yYWRvIHJlc3BlaXRhbmRvIG9zIHByaW5jw61waW9zIGRhIG1vcmFsIGUgZGEgw6l0aWNhIGUgbsOjbyB2aW9sb3UgcXVhbHF1ZXIgZGlyZWl0byBkZSBwcm9wcmllZGFkZSBpbnRlbGVjdHVhbCwgc29iIHBlbmEgZGUgcmVzcG9uZGVyIGNpdmlsLCBjcmltaW5hbCwgw6l0aWNhIGUgcHJvZmlzc2lvbmFsbWVudGUgcG9yIG1ldXMgYXRvczsKCjkuIEF0ZXN0YSBxdWUgYSB2ZXJzw6NvIGRvIHRyYWJhbGhvIHByZXNlbnRlIG5vIGFycXVpdm8gc3VibWV0aWRvIMOpIGEgdmVyc8OjbyBkZWZpbml0aXZhIHF1ZSBpbmNsdWkgYXMgYWx0ZXJhw6fDtWVzIGRlY29ycmVudGVzIGRhIGRlZmVzYSwgc29saWNpdGFkYXMgcGVsYSBiYW5jYSwgc2UgaG91dmUgYWxndW1hLCBvdSBzb2xpY2l0YWRhcyBwb3IgcGFydGUgZGUgb3JpZW50YcOnw6NvIGRvY2VudGUgcmVzcG9uc8OhdmVsOwoKMTAuIENvbmNlZGUgw6AgVW5pdmVyc2lkYWRlIEZlZGVyYWwgZGUgU8OjbyBQYXVsbyAoVU5JRkVTUCkgbyBkaXJlaXRvIG7Do28gZXhjbHVzaXZvIGRlIHJlYWxpemFyIHF1YWlzcXVlciBhbHRlcmHDp8O1ZXMgbmEgbcOtZGlhIG91IG5vIGZvcm1hdG8gZG8gYXJxdWl2byBwYXJhIHByb3DDs3NpdG9zIGRlIHByZXNlcnZhw6fDo28gZGlnaXRhbCwgZGUgYWNlc3NpYmlsaWRhZGUgZSBkZSBtZWxob3IgaWRlbnRpZmljYcOnw6NvIGRvIHRyYWJhbGhvIHN1Ym1ldGlkbywgZGVzZGUgcXVlIG7Do28gc2VqYSBhbHRlcmFkbyBzZXUgY29udGXDumRvIGludGVsZWN0dWFsLgoKQW8gY29uY2x1aXIgYXMgZXRhcGFzIGRvIHByb2Nlc3NvIGRlIHN1Ym1pc3PDo28gZGUgYXJxdWl2b3Mgbm8gUmVwb3NpdMOzcmlvIEluc3RpdHVjaW9uYWwgVU5JRkVTUCwgYXRlc3RvIHF1ZSBsaSBlIGNvbmNvcmRlaSBpbnRlZ3JhbG1lbnRlIGNvbSBvcyB0ZXJtb3MgYWNpbWEgZGVsaW1pdGFkb3MsIHNlbSBmYXplciBxdWFscXVlciByZXNlcnZhIGUgbm92YW1lbnRlIGNvbmZpcm1hbmRvIHF1ZSBjdW1wcm8gb3MgcmVxdWlzaXRvcyBpbmRpY2Fkb3Mgbm9zIGl0ZW5zIG1lbmNpb25hZG9zIGFudGVyaW9ybWVudGUuCgpIYXZlbmRvIHF1YWxxdWVyIGRpc2NvcmTDom5jaWEgZW0gcmVsYcOnw6NvIGEgcHJlc2VudGUgbGljZW7Dp2Egb3UgbsOjbyBzZSB2ZXJpZmljYW5kbyBvIGV4aWdpZG8gbm9zIGl0ZW5zIGFudGVyaW9yZXMsIHZvY8OqIGRldmUgaW50ZXJyb21wZXIgaW1lZGlhdGFtZW50ZSBvIHByb2Nlc3NvIGRlIHN1Ym1pc3PDo28uIEEgY29udGludWlkYWRlIGRvIHByb2Nlc3NvIGVxdWl2YWxlIMOgIGNvbmNvcmTDom5jaWEgZSDDoCBhc3NpbmF0dXJhIGRlc3RlIGRvY3VtZW50bywgY29tIHRvZGFzIGFzIGNvbnNlcXXDqm5jaWFzIG5lbGUgcHJldmlzdGFzLCBzdWplaXRhbmRvLXNlIG8gc2lnbmF0w6FyaW8gYSBzYW7Dp8O1ZXMgY2l2aXMgZSBjcmltaW5haXMgY2FzbyBuw6NvIHNlamEgdGl0dWxhciBkb3MgZGlyZWl0b3MgYXV0b3JhaXMgcGF0cmltb25pYWlzIGUvb3UgY29uZXhvcyBhcGxpY8OhdmVpcyDDoCBPYnJhIGRlcG9zaXRhZGEgZHVyYW50ZSBlc3RlIHByb2Nlc3NvLCBvdSBjYXNvIG7Do28gdGVuaGEgb2J0aWRvIHByw6l2aWEgZSBleHByZXNzYSBhdXRvcml6YcOnw6NvIGRvIHRpdHVsYXIgcGFyYSBvIGRlcMOzc2l0byBlIHRvZG9zIG9zIHVzb3MgZGEgT2JyYSBlbnZvbHZpZG9zLgoKU2UgdGl2ZXIgcXVhbHF1ZXIgZMO6dmlkYSBxdWFudG8gYW9zIHRlcm1vcyBkZSBsaWNlbmNpYW1lbnRvIGUgcXVhbnRvIGFvIHByb2Nlc3NvIGRlIHN1Ym1pc3PDo28sIGVudHJlIGVtIGNvbnRhdG8gY29tIGEgYmlibGlvdGVjYSBkbyBzZXUgY2FtcHVzIChjb25zdWx0ZSBlbTogaHR0cHM6Ly9iaWJsaW90ZWNhcy51bmlmZXNwLmJyL2JpYmxpb3RlY2FzLWRhLXJlZGUpLiAKClPDo28gUGF1bG8sIEZyaSBNYXIgMzEgMTc6MTk6NDMgQlJUIDIwMjMuCg==Repositório InstitucionalPUBhttp://www.repositorio.unifesp.br/oai/requestopendoar:34652023-10-21T04:01:54Repositório Institucional da UNIFESP - Universidade Federal de São Paulo (UNIFESP)false |
dc.title.en.fl_str_mv |
Predictive factors of the contracture test for diagnosing malignant hyperthermia in a Brazilian population sample: a retrospective observational study |
title |
Predictive factors of the contracture test for diagnosing malignant hyperthermia in a Brazilian population sample: a retrospective observational study |
spellingShingle |
Predictive factors of the contracture test for diagnosing malignant hyperthermia in a Brazilian population sample: a retrospective observational study Mello, Jean Marcel de [UNIFESP] Skeletal muscle. Anesthesia Caffeine Halothane Malignant hyperthermia |
title_short |
Predictive factors of the contracture test for diagnosing malignant hyperthermia in a Brazilian population sample: a retrospective observational study |
title_full |
Predictive factors of the contracture test for diagnosing malignant hyperthermia in a Brazilian population sample: a retrospective observational study |
title_fullStr |
Predictive factors of the contracture test for diagnosing malignant hyperthermia in a Brazilian population sample: a retrospective observational study |
title_full_unstemmed |
Predictive factors of the contracture test for diagnosing malignant hyperthermia in a Brazilian population sample: a retrospective observational study |
title_sort |
Predictive factors of the contracture test for diagnosing malignant hyperthermia in a Brazilian population sample: a retrospective observational study |
author |
Mello, Jean Marcel de [UNIFESP] |
author_facet |
Mello, Jean Marcel de [UNIFESP] Andrade, Pamela Vieira [UNIFESP] Oliveira, Acary Souza Bulle [UNIFESP] Vainzof, Mariz [UNIFESP] Silva, Helga Cristina Almeida da [UNIFESP] Santos, Joilson Moura [UNIFESP] Amaral, Jose Luiz Gomes do [UNIFESP] |
author_role |
author |
author2 |
Andrade, Pamela Vieira [UNIFESP] Oliveira, Acary Souza Bulle [UNIFESP] Vainzof, Mariz [UNIFESP] Silva, Helga Cristina Almeida da [UNIFESP] Santos, Joilson Moura [UNIFESP] Amaral, Jose Luiz Gomes do [UNIFESP] |
author2_role |
author author author author author author |
dc.contributor.authorLattes.pt_BR.fl_str_mv |
http://lattes.cnpq.br/0844918862241102 |
dc.contributor.author.fl_str_mv |
Mello, Jean Marcel de [UNIFESP] Andrade, Pamela Vieira [UNIFESP] Oliveira, Acary Souza Bulle [UNIFESP] Vainzof, Mariz [UNIFESP] Silva, Helga Cristina Almeida da [UNIFESP] Santos, Joilson Moura [UNIFESP] Amaral, Jose Luiz Gomes do [UNIFESP] |
dc.subject.eng.fl_str_mv |
Skeletal muscle. Anesthesia Caffeine Halothane Malignant hyperthermia |
topic |
Skeletal muscle. Anesthesia Caffeine Halothane Malignant hyperthermia |
description |
Introduction: Malignant Hyperthermia (MH) is a pharmacogenetic, hereditary and autosomal dominant syndrome triggered by halogenates/succinylcholine. The In Vitro Contracture Test (IVCT) is the gold standard diagnostic test for MH, and it evaluates abnormal skeletal muscle reactions of susceptible individuals (earlier/greater contracture) when exposed to caffeine/halothane. MH susceptibility episodes and IVCT seem to be related to individual features. Objective: To assess variables that correlate with IVCT in Brazilian patients referred for MH investigation due to a history of personal/family MH. Methods: We examined IVCTs of 80 patients investigated for MH between 2004‒2019. We recorded clinical data (age, sex, presence of muscle weakness or myopathy with muscle biopsy showing cores, genetic evaluation, IVCT result) and IVCT features (initial and final maximum contraction, caffeine/halothane concentration triggering contracture of 0.2g, contracture at caffeine concentration of 2 and 32 mmoL and at 2% halothane, and contraction after 100 Hz stimulation). Results: Mean age of the sample was 35±13.3 years, and most of the subjects were female (n=43 or 54%) and MH susceptible (60%). Of the 20 subjects undergoing genetic investigation, 65% showed variants in RYR1/CACNA1S genes. We found no difference between the positive and negative IVCT groups regarding age, sex, number of probands, presence of muscle weakness or myopathy with muscle biopsy showing cores. Regression analysis revealed that the best predictors of positive IVCT were male sex (+12%), absence of muscle weakness (+20%), and personal MH background (+17%). Conclusions: Positive IVCT results have been correlated to male probands, in accordance with early publications. Furthermore, normal muscle strength has been confirmed as a significant predictor of positive IVCT while investigating suspected MH cases. |
publishDate |
2023 |
dc.date.accessioned.fl_str_mv |
2023-04-03T15:11:54Z |
dc.date.available.fl_str_mv |
2023-04-03T15:11:54Z |
dc.date.issued.fl_str_mv |
2023-03 |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article |
format |
article |
status_str |
publishedVersion |
dc.identifier.pt_BR.fl_str_mv |
https://www.sciencedirect.com/science/article/pii/S0104001422000823?via%3Dihub |
dc.identifier.uri.fl_str_mv |
https://repositorio.unifesp.br/11600/67326 |
dc.identifier.doi.pt_BR.fl_str_mv |
10.1016/j.bjane.2022.06.010 |
url |
https://www.sciencedirect.com/science/article/pii/S0104001422000823?via%3Dihub https://repositorio.unifesp.br/11600/67326 |
identifier_str_mv |
10.1016/j.bjane.2022.06.010 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.ispartof.en.fl_str_mv |
Brazilian Journal of Anesthesiology |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.publisher.none.fl_str_mv |
SBA |
publisher.none.fl_str_mv |
SBA |
dc.source.none.fl_str_mv |
reponame:Repositório Institucional da UNIFESP instname:Universidade Federal de São Paulo (UNIFESP) instacron:UNIFESP |
instname_str |
Universidade Federal de São Paulo (UNIFESP) |
instacron_str |
UNIFESP |
institution |
UNIFESP |
reponame_str |
Repositório Institucional da UNIFESP |
collection |
Repositório Institucional da UNIFESP |
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Repositório Institucional da UNIFESP - Universidade Federal de São Paulo (UNIFESP) |
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1802764120959746048 |