Causes of Death in Machado-Joseph Disease : A Case-Control Study in the Azores (Portugal)
Autor(a) principal: | |
---|---|
Data de Publicação: | 1998 |
Outros Autores: | , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
Texto Completo: | http://hdl.handle.net/10316/12868 https://doi.org/10.1001/archneur.55.10.1341 |
Resumo: | Background Machado-Joseph disease (MJD) is an autosomal dominant cerebellar ataxia of adult onset with a high prevalence in the islands of Azores (Portugal). The genetic epidemiological studies presently under way in these islands are based on the genealogical reconstruction of the affected families, thus partially depending on the reference of patients using family history. A considerable effort has been made to obtain genealogies that are as complete as possible, making use of different types of data. The utility of the death causes contained in the death registers of the patients with MJD was determined in this study. Objectives To estimate the extent to which the cause of death reported in the death register can confirm other reports of an individual's status for the disease (ie, oral information), and to determine the accuracy of the death certificates in listing MJD in patients whose disease was clinically diagnosed. Design Case-control study. Methods The death registers of 113 patients with MJD (82 whose disease was identified by history and 31 whose disease was clinically diagnosed) were examined and compared with those of controls matched by sex and date and place of death. Results There were significant differences in the causes of death between cases and controls, both for those whose disease was identified by history ({chi}2=51.69, P <.001) and for those whose disease was identified by examination ({chi}2=27.78, P =.004). However, the cause of death was in accord with the presence of the disease in only 40% of the cases reported as being identified only by family history. In the cases in which the disease was clinically diagnosed, only nearly 38% of the registers provided reliable information as to MJD being the direct cause of death. Conclusions The fact that only nearly 40% of the patients with clinically confirmed MJD had a cause of death compatible with MJD precludes the use of cause of death as a means of identifying affected individuals in the Azorean MJD pedigrees |
id |
RCAP_d6269f989667c1a3f4dfd80ec7035e20 |
---|---|
oai_identifier_str |
oai:estudogeral.uc.pt:10316/12868 |
network_acronym_str |
RCAP |
network_name_str |
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
repository_id_str |
7160 |
spelling |
Causes of Death in Machado-Joseph Disease : A Case-Control Study in the Azores (Portugal)Background Machado-Joseph disease (MJD) is an autosomal dominant cerebellar ataxia of adult onset with a high prevalence in the islands of Azores (Portugal). The genetic epidemiological studies presently under way in these islands are based on the genealogical reconstruction of the affected families, thus partially depending on the reference of patients using family history. A considerable effort has been made to obtain genealogies that are as complete as possible, making use of different types of data. The utility of the death causes contained in the death registers of the patients with MJD was determined in this study. Objectives To estimate the extent to which the cause of death reported in the death register can confirm other reports of an individual's status for the disease (ie, oral information), and to determine the accuracy of the death certificates in listing MJD in patients whose disease was clinically diagnosed. Design Case-control study. Methods The death registers of 113 patients with MJD (82 whose disease was identified by history and 31 whose disease was clinically diagnosed) were examined and compared with those of controls matched by sex and date and place of death. Results There were significant differences in the causes of death between cases and controls, both for those whose disease was identified by history ({chi}2=51.69, P <.001) and for those whose disease was identified by examination ({chi}2=27.78, P =.004). However, the cause of death was in accord with the presence of the disease in only 40% of the cases reported as being identified only by family history. In the cases in which the disease was clinically diagnosed, only nearly 38% of the registers provided reliable information as to MJD being the direct cause of death. Conclusions The fact that only nearly 40% of the patients with clinically confirmed MJD had a cause of death compatible with MJD precludes the use of cause of death as a means of identifying affected individuals in the Azorean MJD pedigreesAmerican Medical Association1998-10info:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articlehttp://hdl.handle.net/10316/12868http://hdl.handle.net/10316/12868https://doi.org/10.1001/archneur.55.10.1341engArchives of Neurology. 55:10 (1998) 1341-13440003-9942Lima, ManuelaCoutinho, PaulaAbade, AugustoVasconcelos, JoãoMayer, Francine M.info:eu-repo/semantics/openAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2021-11-08T09:25:30Zoai:estudogeral.uc.pt:10316/12868Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T20:55:50.483157Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse |
dc.title.none.fl_str_mv |
Causes of Death in Machado-Joseph Disease : A Case-Control Study in the Azores (Portugal) |
title |
Causes of Death in Machado-Joseph Disease : A Case-Control Study in the Azores (Portugal) |
spellingShingle |
Causes of Death in Machado-Joseph Disease : A Case-Control Study in the Azores (Portugal) Lima, Manuela |
title_short |
Causes of Death in Machado-Joseph Disease : A Case-Control Study in the Azores (Portugal) |
title_full |
Causes of Death in Machado-Joseph Disease : A Case-Control Study in the Azores (Portugal) |
title_fullStr |
Causes of Death in Machado-Joseph Disease : A Case-Control Study in the Azores (Portugal) |
title_full_unstemmed |
Causes of Death in Machado-Joseph Disease : A Case-Control Study in the Azores (Portugal) |
title_sort |
Causes of Death in Machado-Joseph Disease : A Case-Control Study in the Azores (Portugal) |
author |
Lima, Manuela |
author_facet |
Lima, Manuela Coutinho, Paula Abade, Augusto Vasconcelos, João Mayer, Francine M. |
author_role |
author |
author2 |
Coutinho, Paula Abade, Augusto Vasconcelos, João Mayer, Francine M. |
author2_role |
author author author author |
dc.contributor.author.fl_str_mv |
Lima, Manuela Coutinho, Paula Abade, Augusto Vasconcelos, João Mayer, Francine M. |
description |
Background Machado-Joseph disease (MJD) is an autosomal dominant cerebellar ataxia of adult onset with a high prevalence in the islands of Azores (Portugal). The genetic epidemiological studies presently under way in these islands are based on the genealogical reconstruction of the affected families, thus partially depending on the reference of patients using family history. A considerable effort has been made to obtain genealogies that are as complete as possible, making use of different types of data. The utility of the death causes contained in the death registers of the patients with MJD was determined in this study. Objectives To estimate the extent to which the cause of death reported in the death register can confirm other reports of an individual's status for the disease (ie, oral information), and to determine the accuracy of the death certificates in listing MJD in patients whose disease was clinically diagnosed. Design Case-control study. Methods The death registers of 113 patients with MJD (82 whose disease was identified by history and 31 whose disease was clinically diagnosed) were examined and compared with those of controls matched by sex and date and place of death. Results There were significant differences in the causes of death between cases and controls, both for those whose disease was identified by history ({chi}2=51.69, P <.001) and for those whose disease was identified by examination ({chi}2=27.78, P =.004). However, the cause of death was in accord with the presence of the disease in only 40% of the cases reported as being identified only by family history. In the cases in which the disease was clinically diagnosed, only nearly 38% of the registers provided reliable information as to MJD being the direct cause of death. Conclusions The fact that only nearly 40% of the patients with clinically confirmed MJD had a cause of death compatible with MJD precludes the use of cause of death as a means of identifying affected individuals in the Azorean MJD pedigrees |
publishDate |
1998 |
dc.date.none.fl_str_mv |
1998-10 |
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.uri.fl_str_mv |
http://hdl.handle.net/10316/12868 http://hdl.handle.net/10316/12868 https://doi.org/10.1001/archneur.55.10.1341 |
url |
http://hdl.handle.net/10316/12868 https://doi.org/10.1001/archneur.55.10.1341 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
Archives of Neurology. 55:10 (1998) 1341-1344 0003-9942 |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.publisher.none.fl_str_mv |
American Medical Association |
publisher.none.fl_str_mv |
American Medical Association |
dc.source.none.fl_str_mv |
reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação instacron:RCAAP |
instname_str |
Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
instacron_str |
RCAAP |
institution |
RCAAP |
reponame_str |
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
collection |
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
repository.name.fl_str_mv |
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
repository.mail.fl_str_mv |
|
_version_ |
1799133844360658944 |