The detection of 35delG mutation and environmental etiologic factors in cochlear implant users - doi:10.5020/18061230.2009.p69

Detalhes bibliográficos
Autor(a) principal: Lélis, Camila Nogueira
Data de Publicação: 2012
Outros Autores: Câmara, Marília Fontenele e Silva, Sartorato, Edi Lúcia
Tipo de documento: Artigo
Idioma: por
Título da fonte: Revista Brasileira em Promoção da Saúde
Texto Completo: https://ojs.unifor.br/RBPS/article/view/348
Resumo: Aim: To identify the occurrence of 35delG mutation and of environmental factors related to hearing loss in patients with cochlear implant, determining the functional gain post-implant. Methods: It was a cross-sectional study conducted with six volunteers, aged from five to twenty-one years old. The studied variables consisted on the identification of risk factors for hearing loss in prenatal, perinatal and postnatal periods. For genetic investigation, the occurrence of 35delG mutation in the connexin 26 gene was studied. The functional gain due to the implant was evaluated with “pure tone” stimulus in modulated frequencies of 250Hz, 500Hz, 1000Hz, 2000Hz, 3000Hz and 4000Hz. Results: In the study of environmental factors, we evidenced reports of TORCH infections (Toxoplasmosis, Rubella, Cytomegalovirus, Herpes and Syphilis), maternal hypertension, abortive usage, Meningitis, Measles, oxygen therapy and Jaundice. The genetic investigation revealed two cases of 35delG mutation, one in homozygosis and other in heterozygosis. The functional gain due to the cochlear implant ranged from 60 to 85dBHL. Conclusion: In the studied sample, both the occurrences of 35delG mutation and of environmental factors related to the hearing loss were evident. The values of functional gain were satisfactory, regardless from the etiology related to the loss.
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spelling The detection of 35delG mutation and environmental etiologic factors in cochlear implant users - doi:10.5020/18061230.2009.p69Detecção da mutação 35delG de fatores etiológico ambientais em usuários de implante coclear - doi:10.5020/18061230.2009.p69GenéticaMutaçãoPerda AuditivaImplante Coclear.Aim: To identify the occurrence of 35delG mutation and of environmental factors related to hearing loss in patients with cochlear implant, determining the functional gain post-implant. Methods: It was a cross-sectional study conducted with six volunteers, aged from five to twenty-one years old. The studied variables consisted on the identification of risk factors for hearing loss in prenatal, perinatal and postnatal periods. For genetic investigation, the occurrence of 35delG mutation in the connexin 26 gene was studied. The functional gain due to the implant was evaluated with “pure tone” stimulus in modulated frequencies of 250Hz, 500Hz, 1000Hz, 2000Hz, 3000Hz and 4000Hz. Results: In the study of environmental factors, we evidenced reports of TORCH infections (Toxoplasmosis, Rubella, Cytomegalovirus, Herpes and Syphilis), maternal hypertension, abortive usage, Meningitis, Measles, oxygen therapy and Jaundice. The genetic investigation revealed two cases of 35delG mutation, one in homozygosis and other in heterozygosis. The functional gain due to the cochlear implant ranged from 60 to 85dBHL. Conclusion: In the studied sample, both the occurrences of 35delG mutation and of environmental factors related to the hearing loss were evident. The values of functional gain were satisfactory, regardless from the etiology related to the loss.Objetivo: Identificar a ocorrência da mutação 35delG e de fatores ambientais relacionados à perda auditiva em pacientes usuários de implante coclear, determinando o ganho funcional auditivo após o implante. Métodos: Tratou-se de um estudo transversal realizado em seis voluntários, com idades variando de cinco a vinte e um anos. As variáveis estudadas consistiram da identificação de fatores de risco para a perda auditiva no período pré-natal, peri-natal e pós-natal. Para o estudo genético, pesquisou-se a ocorrência da mutação 35delG no gene da conexina 26. O ganho funcional devido ao implante foi avaliado com o estímulo “tom puro”, em frequências moduladas de 250Hz, 500Hz, 1000Hz, 2000Hz, 3000Hz e 4000Hz. Resultados: Na pesquisa de fatores ambientais, evidenciaram-se relatos de infecções do grupo TORCH (Toxoplamose, Rubéola, Citomegalovírus, Herpes e Sífilis), hipertensão materna, uso de abortivos, Meningite, Sarampo, oxigenoterapia e Icterícia. O estudo genético revelou dois casos de mutação 35delG, um em homozigose e outro em heterozigose. O ganho funcional do implante coclear variou de 60 a 85dBNA. Conclusão: Na amostra estudada, evidenciaram-se as ocorrências da mutação 35delG e de fatores ambientais relacionados à deficiência auditiva. As medidas de ganho funcional foram satisfatórias, independente da etiologia relacionada à perda.Universidade de Fortaleza2012-01-04info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersion"Peer-reviewed Article""Avaliado pelos pares""Avaliado pelos pares"application/pdfhttps://ojs.unifor.br/RBPS/article/view/34810.5020/348Brazilian Journal in Health Promotion; Vol. 22 No. 2 (2009); 69-73Revista Brasileña en Promoción de la Salud; Vol. 22 Núm. 2 (2009); 69-73Revista Brasileira em Promoção da Saúde; v. 22 n. 2 (2009); 69-731806-1230reponame:Revista Brasileira em Promoção da Saúdeinstname:Universidade de Fortaleza (Unifor)instacron:UFORporhttps://ojs.unifor.br/RBPS/article/view/348/2253Lélis, Camila NogueiraCâmara, Marília Fontenele e SilvaSartorato, Edi Lúciainfo:eu-repo/semantics/openAccess2012-01-10T12:19:46Zoai:ojs.ojs.unifor.br:article/348Revistahttps://periodicos.unifor.br/RBPS/oai1806-12301806-1222opendoar:2012-01-10T12:19:46Revista Brasileira em Promoção da Saúde - Universidade de Fortaleza (Unifor)false
dc.title.none.fl_str_mv The detection of 35delG mutation and environmental etiologic factors in cochlear implant users - doi:10.5020/18061230.2009.p69
Detecção da mutação 35delG de fatores etiológico ambientais em usuários de implante coclear - doi:10.5020/18061230.2009.p69
title The detection of 35delG mutation and environmental etiologic factors in cochlear implant users - doi:10.5020/18061230.2009.p69
spellingShingle The detection of 35delG mutation and environmental etiologic factors in cochlear implant users - doi:10.5020/18061230.2009.p69
Lélis, Camila Nogueira
Genética
Mutação
Perda Auditiva
Implante Coclear.
title_short The detection of 35delG mutation and environmental etiologic factors in cochlear implant users - doi:10.5020/18061230.2009.p69
title_full The detection of 35delG mutation and environmental etiologic factors in cochlear implant users - doi:10.5020/18061230.2009.p69
title_fullStr The detection of 35delG mutation and environmental etiologic factors in cochlear implant users - doi:10.5020/18061230.2009.p69
title_full_unstemmed The detection of 35delG mutation and environmental etiologic factors in cochlear implant users - doi:10.5020/18061230.2009.p69
title_sort The detection of 35delG mutation and environmental etiologic factors in cochlear implant users - doi:10.5020/18061230.2009.p69
author Lélis, Camila Nogueira
author_facet Lélis, Camila Nogueira
Câmara, Marília Fontenele e Silva
Sartorato, Edi Lúcia
author_role author
author2 Câmara, Marília Fontenele e Silva
Sartorato, Edi Lúcia
author2_role author
author
dc.contributor.author.fl_str_mv Lélis, Camila Nogueira
Câmara, Marília Fontenele e Silva
Sartorato, Edi Lúcia
dc.subject.por.fl_str_mv Genética
Mutação
Perda Auditiva
Implante Coclear.
topic Genética
Mutação
Perda Auditiva
Implante Coclear.
description Aim: To identify the occurrence of 35delG mutation and of environmental factors related to hearing loss in patients with cochlear implant, determining the functional gain post-implant. Methods: It was a cross-sectional study conducted with six volunteers, aged from five to twenty-one years old. The studied variables consisted on the identification of risk factors for hearing loss in prenatal, perinatal and postnatal periods. For genetic investigation, the occurrence of 35delG mutation in the connexin 26 gene was studied. The functional gain due to the implant was evaluated with “pure tone” stimulus in modulated frequencies of 250Hz, 500Hz, 1000Hz, 2000Hz, 3000Hz and 4000Hz. Results: In the study of environmental factors, we evidenced reports of TORCH infections (Toxoplasmosis, Rubella, Cytomegalovirus, Herpes and Syphilis), maternal hypertension, abortive usage, Meningitis, Measles, oxygen therapy and Jaundice. The genetic investigation revealed two cases of 35delG mutation, one in homozygosis and other in heterozygosis. The functional gain due to the cochlear implant ranged from 60 to 85dBHL. Conclusion: In the studied sample, both the occurrences of 35delG mutation and of environmental factors related to the hearing loss were evident. The values of functional gain were satisfactory, regardless from the etiology related to the loss.
publishDate 2012
dc.date.none.fl_str_mv 2012-01-04
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
"Peer-reviewed Article"
"Avaliado pelos pares"
"Avaliado pelos pares"
format article
status_str publishedVersion
dc.identifier.uri.fl_str_mv https://ojs.unifor.br/RBPS/article/view/348
10.5020/348
url https://ojs.unifor.br/RBPS/article/view/348
identifier_str_mv 10.5020/348
dc.language.iso.fl_str_mv por
language por
dc.relation.none.fl_str_mv https://ojs.unifor.br/RBPS/article/view/348/2253
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.publisher.none.fl_str_mv Universidade de Fortaleza
publisher.none.fl_str_mv Universidade de Fortaleza
dc.source.none.fl_str_mv Brazilian Journal in Health Promotion; Vol. 22 No. 2 (2009); 69-73
Revista Brasileña en Promoción de la Salud; Vol. 22 Núm. 2 (2009); 69-73
Revista Brasileira em Promoção da Saúde; v. 22 n. 2 (2009); 69-73
1806-1230
reponame:Revista Brasileira em Promoção da Saúde
instname:Universidade de Fortaleza (Unifor)
instacron:UFOR
instname_str Universidade de Fortaleza (Unifor)
instacron_str UFOR
institution UFOR
reponame_str Revista Brasileira em Promoção da Saúde
collection Revista Brasileira em Promoção da Saúde
repository.name.fl_str_mv Revista Brasileira em Promoção da Saúde - Universidade de Fortaleza (Unifor)
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