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Inherited and acquired risk factors and their combined effects in pediatric stroke

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Resumo:The aim of this study was to identify hereditary and acquired risk-factors as they are related to the occurrence of stroke in children. We identified 21 children with stroke. A search of the Factor V Leiden mutation, the Factor II G20210A variant, and the thermolabile variant of methylenetetrahydrofolate reductase was performed in patients and in a control group (n = 115).We identified risk factors of acquired and/or hereditary nature for stroke in 19 of 21 children. Eleven children had three or more risk factors, seven had two risk factors, and one child had only one risk factor. We found three carriers (14.3%) of the Factor V Leiden mutation, two carriers (9.5%) of the Factor II G20210A variant, eleven (52.4%) thermolabile variant of methylenetetrahydrofolate reductase heterozygote carriers, and one (4.8%) homozygotes for this variant.Frequencies of the Factor V Leiden mutation and the Factor II variant were higher in patients than in controls, suggesting that these variants are associated with an increased risk of stroke in childhood. Homozygosity for the thermolabile variant of methylenetetrahydrofolate reductase was equally frequent amongst patients and controls.Our study confirms that stroke in children is commonly associated with a combination of multiple risk factors, both genetic and acquired, and that the Factor V Leiden mutation and the Factor II G20210A variant are predisposing factors for this situation.
Autores principais:Barreirinho, Maria Sameiro
Outros Autores:Ferro, Anabela; Santos, Manuela; Costa, Elísio; Pinto-Bastos, Jorge; Sousa, Alda; Sequeiros, Jorge; Maciel, Patricia; Barbot, Clara; Barbot, José
Assunto:Childhood stroke Risk factors FV Leiden FII variant Thrombophilia
Ano:2003
País:Portugal
Tipo de documento:artigo
Tipo de acesso:acesso aberto
Instituição associada:Instituto Politécnico de Bragança
Idioma:inglês
Origem:Biblioteca Digital do IPB
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author Barreirinho, Maria Sameiro
author2 Ferro, Anabela
Santos, Manuela
Costa, Elísio
Pinto-Bastos, Jorge
Sousa, Alda
Sequeiros, Jorge
Maciel, Patricia
Barbot, Clara
Barbot, José
author2_role author
author
author
author
author
author
author
author
author
author_facet Barreirinho, Maria Sameiro
Ferro, Anabela
Santos, Manuela
Costa, Elísio
Pinto-Bastos, Jorge
Sousa, Alda
Sequeiros, Jorge
Maciel, Patricia
Barbot, Clara
Barbot, José
author_role author
contributor_name_str_mv Biblioteca Digital do IPB
country_str PT
creators_json_txt [{\"Person.name\":\"Barreirinho, Maria Sameiro\"},{\"Person.name\":\"Ferro, Anabela\"},{\"Person.name\":\"Santos, Manuela\"},{\"Person.name\":\"Costa, Elísio\"},{\"Person.name\":\"Pinto-Bastos, Jorge\"},{\"Person.name\":\"Sousa, Alda\"},{\"Person.name\":\"Sequeiros, Jorge\"},{\"Person.name\":\"Maciel, Patricia\"},{\"Person.name\":\"Barbot, Clara\"},{\"Person.name\":\"Barbot, José\"}]
datacite.contributors.contributor.contributorName.fl_str_mv Biblioteca Digital do IPB
datacite.creators.creator.creatorName.fl_str_mv Barreirinho, Maria Sameiro
Ferro, Anabela
Santos, Manuela
Costa, Elísio
Pinto-Bastos, Jorge
Sousa, Alda
Sequeiros, Jorge
Maciel, Patricia
Barbot, Clara
Barbot, José
datacite.date.Accepted.fl_str_mv 2003-01-01T00:00:00Z
datacite.date.available.fl_str_mv 2008-02-19T15:17:46Z
datacite.date.embargoed.fl_str_mv 2008-02-19T15:17:46Z
datacite.rights.fl_str_mv http://purl.org/coar/access_right/c_abf2
datacite.subjects.subject.fl_str_mv Childhood stroke
Risk factors
FV Leiden
FII variant
Thrombophilia
datacite.titles.title.fl_str_mv Inherited and acquired risk factors and their combined effects in pediatric stroke
dc.contributor.none.fl_str_mv Biblioteca Digital do IPB
dc.creator.none.fl_str_mv Barreirinho, Maria Sameiro
Ferro, Anabela
Santos, Manuela
Costa, Elísio
Pinto-Bastos, Jorge
Sousa, Alda
Sequeiros, Jorge
Maciel, Patricia
Barbot, Clara
Barbot, José
dc.date.Accepted.fl_str_mv 2003-01-01T00:00:00Z
dc.date.available.fl_str_mv 2008-02-19T15:17:46Z
dc.date.embargoed.fl_str_mv 2008-02-19T15:17:46Z
dc.format.none.fl_str_mv application/pdf
dc.identifier.none.fl_str_mv http://hdl.handle.net/10198/496
dc.language.none.fl_str_mv eng
dc.publisher.none.fl_str_mv Elsevier
dc.rights.none.fl_str_mv http://purl.org/coar/access_right/c_abf2
dc.subject.none.fl_str_mv Childhood stroke
Risk factors
FV Leiden
FII variant
Thrombophilia
dc.title.fl_str_mv Inherited and acquired risk factors and their combined effects in pediatric stroke
dc.type.none.fl_str_mv http://purl.org/coar/resource_type/c_6501
description The aim of this study was to identify hereditary and acquired risk-factors as they are related to the occurrence of stroke in children. We identified 21 children with stroke. A search of the Factor V Leiden mutation, the Factor II G20210A variant, and the thermolabile variant of methylenetetrahydrofolate reductase was performed in patients and in a control group (n = 115).We identified risk factors of acquired and/or hereditary nature for stroke in 19 of 21 children. Eleven children had three or more risk factors, seven had two risk factors, and one child had only one risk factor. We found three carriers (14.3%) of the Factor V Leiden mutation, two carriers (9.5%) of the Factor II G20210A variant, eleven (52.4%) thermolabile variant of methylenetetrahydrofolate reductase heterozygote carriers, and one (4.8%) homozygotes for this variant.Frequencies of the Factor V Leiden mutation and the Factor II variant were higher in patients than in controls, suggesting that these variants are associated with an increased risk of stroke in childhood. Homozygosity for the thermolabile variant of methylenetetrahydrofolate reductase was equally frequent amongst patients and controls.Our study confirms that stroke in children is commonly associated with a combination of multiple risk factors, both genetic and acquired, and that the Factor V Leiden mutation and the Factor II G20210A variant are predisposing factors for this situation.
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eu_rights_str_mv openAccess
format article
fulltext.url.fl_str_mv https://bibliotecadigital.ipb.pt/bitstreams/99964ba3-d536-4f97-a7ae-7455c1e5de1e/download
id ipb_7ae5b3cfdfc5aa7dc4a67acd2d0709b8
identifier.url.fl_str_mv http://hdl.handle.net/10198/496
instacron_str ipb
institution Instituto Politécnico de Bragança
instname_str Instituto Politécnico de Bragança
language eng
network_acronym_str ipb
network_name_str Biblioteca Digital do IPB
oai_identifier_str oai:bibliotecadigital.ipb.pt:10198/496
organization_str_mv urn:organizationAcronym:ipb
person_str_mv Barreirinho, Maria Sameiro
Ferro, Anabela
Santos, Manuela
Costa, Elísio
Pinto-Bastos, Jorge
Sousa, Alda
Sequeiros, Jorge
Maciel, Patricia
Barbot, Clara
Barbot, José
publishDate 2003
publisher.none.fl_str_mv Elsevier
reponame_str Biblioteca Digital do IPB
repository_id_str urn:repositoryAcronym:ipb
service_str_mv urn:repositoryAcronym:ipb
spelling engElsevierenThe aim of this study was to identify hereditary and acquired risk-factors as they are related to the occurrence of stroke in children. We identified 21 children with stroke. A search of the Factor V Leiden mutation, the Factor II G20210A variant, and the thermolabile variant of methylenetetrahydrofolate reductase was performed in patients and in a control group (n = 115).We identified risk factors of acquired and/or hereditary nature for stroke in 19 of 21 children. Eleven children had three or more risk factors, seven had two risk factors, and one child had only one risk factor. We found three carriers (14.3%) of the Factor V Leiden mutation, two carriers (9.5%) of the Factor II G20210A variant, eleven (52.4%) thermolabile variant of methylenetetrahydrofolate reductase heterozygote carriers, and one (4.8%) homozygotes for this variant.Frequencies of the Factor V Leiden mutation and the Factor II variant were higher in patients than in controls, suggesting that these variants are associated with an increased risk of stroke in childhood. Homozygosity for the thermolabile variant of methylenetetrahydrofolate reductase was equally frequent amongst patients and controls.Our study confirms that stroke in children is commonly associated with a combination of multiple risk factors, both genetic and acquired, and that the Factor V Leiden mutation and the Factor II G20210A variant are predisposing factors for this situation.application/pdfenInherited and acquired risk factors and their combined effects in pediatric strokeBarreirinho, Maria SameiroFerro, AnabelaSantos, ManuelaCosta, ElísioPinto-Bastos, JorgeSousa, AldaSequeiros, JorgeMaciel, PatriciaBarbot, ClaraBarbot, JoséHostingInstitutionOrganizationalBiblioteca Digital do IPBe-mailmailto:dspace@ipb.ptdspace@ipb.ptISSNIsPartOf0887-89942008-02-19T15:17:46Z20032003-01-01T00:00:00ZHandlehttp://hdl.handle.net/10198/496http://purl.org/coar/access_right/c_abf2open accessChildhood strokeRisk factorsFV LeidenFII variantThrombophilia49422 bytesliteraturehttp://purl.org/coar/resource_type/c_6501journal articlehttp://purl.org/coar/access_right/c_abf2application/pdffulltexthttps://bibliotecadigital.ipb.pt/bitstreams/99964ba3-d536-4f97-a7ae-7455c1e5de1e/download
spellingShingle Inherited and acquired risk factors and their combined effects in pediatric stroke
Barreirinho, Maria Sameiro
Childhood stroke
Risk factors
FV Leiden
FII variant
Thrombophilia
status SINGLETON
subject.fl_str_mv Childhood stroke
Risk factors
FV Leiden
FII variant
Thrombophilia
title Inherited and acquired risk factors and their combined effects in pediatric stroke
title_full Inherited and acquired risk factors and their combined effects in pediatric stroke
title_fullStr Inherited and acquired risk factors and their combined effects in pediatric stroke
title_full_unstemmed Inherited and acquired risk factors and their combined effects in pediatric stroke
title_short Inherited and acquired risk factors and their combined effects in pediatric stroke
title_sort Inherited and acquired risk factors and their combined effects in pediatric stroke
topic Childhood stroke
Risk factors
FV Leiden
FII variant
Thrombophilia
topic_facet Childhood stroke
Risk factors
FV Leiden
FII variant
Thrombophilia
url http://hdl.handle.net/10198/496
visible 1