Information and Diagnosis Networks – tools to improve diagnosis and treatment for patients with rare genetic diseases
Autor(a) principal: | |
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Data de Publicação: | 2019 |
Outros Autores: | , , , , , , , , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Genetics and Molecular Biology |
Texto Completo: | http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572019000200155 |
Resumo: | Abstract Brazil is a country of continental dimensions and most genetic services are concentrated in the Southeast and South, including the Medical Genetics Service of the Hospital de Clínicas de Porto Alegre (MGS/HCPA). As many areas on the country do not have adequate medical genetics support, networks were designed to extend the service of the MGS/HCPA reference center. This paper presents the information and diagnosis networks that have their headquarters at MGS/HCPA: SIAT (National Information System on Teratogenic Agents), SIEM (Information Service on Inborn Errors of Metabolism), Alô Genética (Hello Genetics - Medical Genetics Information Service for Primary Health Care Professionals); Rede MPS Brasil (MPS-Mucopolysaccharidosis Brazil Network); Rede EIM Brasil (IEM-Inborn Errors of Metabolism Brazil Network), Rede NPC Brasil (Niemann-Pick C - NPC Brazil Network), Rede DLD Brasil (LSD-Lysosomal Storage Disorders Brazil Network), Rede DXB (MSUD-Maple Syrup Urine Disease Network), RedeBRIM (Brazilian Network of Reference and Information in Microdeletion Syndromes Project), Rede Neurogenética (Neurogenetics Network), and Rede Brasileira de Câncer Hereditário (Brazilian Hereditary Cancer Network). These tools are very useful to provide access to a qualified information and/or diagnostic service for specialized and non-specialized health services, bypassing difficulties that preclude patients to access reference centers. |
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Genetics and Molecular Biology |
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Information and Diagnosis Networks – tools to improve diagnosis and treatment for patients with rare genetic diseasesInformation servicesMedical Geneticsdiagnostic networksrare diseasesreference centersAbstract Brazil is a country of continental dimensions and most genetic services are concentrated in the Southeast and South, including the Medical Genetics Service of the Hospital de Clínicas de Porto Alegre (MGS/HCPA). As many areas on the country do not have adequate medical genetics support, networks were designed to extend the service of the MGS/HCPA reference center. This paper presents the information and diagnosis networks that have their headquarters at MGS/HCPA: SIAT (National Information System on Teratogenic Agents), SIEM (Information Service on Inborn Errors of Metabolism), Alô Genética (Hello Genetics - Medical Genetics Information Service for Primary Health Care Professionals); Rede MPS Brasil (MPS-Mucopolysaccharidosis Brazil Network); Rede EIM Brasil (IEM-Inborn Errors of Metabolism Brazil Network), Rede NPC Brasil (Niemann-Pick C - NPC Brazil Network), Rede DLD Brasil (LSD-Lysosomal Storage Disorders Brazil Network), Rede DXB (MSUD-Maple Syrup Urine Disease Network), RedeBRIM (Brazilian Network of Reference and Information in Microdeletion Syndromes Project), Rede Neurogenética (Neurogenetics Network), and Rede Brasileira de Câncer Hereditário (Brazilian Hereditary Cancer Network). These tools are very useful to provide access to a qualified information and/or diagnostic service for specialized and non-specialized health services, bypassing difficulties that preclude patients to access reference centers.Sociedade Brasileira de Genética2019-01-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572019000200155Genetics and Molecular Biology v.42 n.1 suppl.1 2019reponame:Genetics and Molecular Biologyinstname:Sociedade Brasileira de Genética (SBG)instacron:SBG10.1590/1678-4685-gmb-2018-0214info:eu-repo/semantics/openAccessVieira,Taiane AlvesTrapp,Franciele BarbosaSouza,Carolina Fischinger Moura deFaccini,Lavínia SchulerJardim,Laura BannachSchwartz,Ida Vanessa DoederleinRiegel,MariluceVargas,Carmen ReglaBurin,Maira GraeffLeistner-Segal,SandraAshton-Prolla,PatríciaGiugliani,Robertoeng2019-07-12T00:00:00Zoai:scielo:S1415-47572019000200155Revistahttp://www.gmb.org.br/ONGhttps://old.scielo.br/oai/scielo-oai.php||editor@gmb.org.br1678-46851415-4757opendoar:2019-07-12T00:00Genetics and Molecular Biology - Sociedade Brasileira de Genética (SBG)false |
dc.title.none.fl_str_mv |
Information and Diagnosis Networks – tools to improve diagnosis and treatment for patients with rare genetic diseases |
title |
Information and Diagnosis Networks – tools to improve diagnosis and treatment for patients with rare genetic diseases |
spellingShingle |
Information and Diagnosis Networks – tools to improve diagnosis and treatment for patients with rare genetic diseases Vieira,Taiane Alves Information services Medical Genetics diagnostic networks rare diseases reference centers |
title_short |
Information and Diagnosis Networks – tools to improve diagnosis and treatment for patients with rare genetic diseases |
title_full |
Information and Diagnosis Networks – tools to improve diagnosis and treatment for patients with rare genetic diseases |
title_fullStr |
Information and Diagnosis Networks – tools to improve diagnosis and treatment for patients with rare genetic diseases |
title_full_unstemmed |
Information and Diagnosis Networks – tools to improve diagnosis and treatment for patients with rare genetic diseases |
title_sort |
Information and Diagnosis Networks – tools to improve diagnosis and treatment for patients with rare genetic diseases |
author |
Vieira,Taiane Alves |
author_facet |
Vieira,Taiane Alves Trapp,Franciele Barbosa Souza,Carolina Fischinger Moura de Faccini,Lavínia Schuler Jardim,Laura Bannach Schwartz,Ida Vanessa Doederlein Riegel,Mariluce Vargas,Carmen Regla Burin,Maira Graeff Leistner-Segal,Sandra Ashton-Prolla,Patrícia Giugliani,Roberto |
author_role |
author |
author2 |
Trapp,Franciele Barbosa Souza,Carolina Fischinger Moura de Faccini,Lavínia Schuler Jardim,Laura Bannach Schwartz,Ida Vanessa Doederlein Riegel,Mariluce Vargas,Carmen Regla Burin,Maira Graeff Leistner-Segal,Sandra Ashton-Prolla,Patrícia Giugliani,Roberto |
author2_role |
author author author author author author author author author author author |
dc.contributor.author.fl_str_mv |
Vieira,Taiane Alves Trapp,Franciele Barbosa Souza,Carolina Fischinger Moura de Faccini,Lavínia Schuler Jardim,Laura Bannach Schwartz,Ida Vanessa Doederlein Riegel,Mariluce Vargas,Carmen Regla Burin,Maira Graeff Leistner-Segal,Sandra Ashton-Prolla,Patrícia Giugliani,Roberto |
dc.subject.por.fl_str_mv |
Information services Medical Genetics diagnostic networks rare diseases reference centers |
topic |
Information services Medical Genetics diagnostic networks rare diseases reference centers |
description |
Abstract Brazil is a country of continental dimensions and most genetic services are concentrated in the Southeast and South, including the Medical Genetics Service of the Hospital de Clínicas de Porto Alegre (MGS/HCPA). As many areas on the country do not have adequate medical genetics support, networks were designed to extend the service of the MGS/HCPA reference center. This paper presents the information and diagnosis networks that have their headquarters at MGS/HCPA: SIAT (National Information System on Teratogenic Agents), SIEM (Information Service on Inborn Errors of Metabolism), Alô Genética (Hello Genetics - Medical Genetics Information Service for Primary Health Care Professionals); Rede MPS Brasil (MPS-Mucopolysaccharidosis Brazil Network); Rede EIM Brasil (IEM-Inborn Errors of Metabolism Brazil Network), Rede NPC Brasil (Niemann-Pick C - NPC Brazil Network), Rede DLD Brasil (LSD-Lysosomal Storage Disorders Brazil Network), Rede DXB (MSUD-Maple Syrup Urine Disease Network), RedeBRIM (Brazilian Network of Reference and Information in Microdeletion Syndromes Project), Rede Neurogenética (Neurogenetics Network), and Rede Brasileira de Câncer Hereditário (Brazilian Hereditary Cancer Network). These tools are very useful to provide access to a qualified information and/or diagnostic service for specialized and non-specialized health services, bypassing difficulties that preclude patients to access reference centers. |
publishDate |
2019 |
dc.date.none.fl_str_mv |
2019-01-01 |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
format |
article |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572019000200155 |
url |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572019000200155 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
10.1590/1678-4685-gmb-2018-0214 |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
text/html |
dc.publisher.none.fl_str_mv |
Sociedade Brasileira de Genética |
publisher.none.fl_str_mv |
Sociedade Brasileira de Genética |
dc.source.none.fl_str_mv |
Genetics and Molecular Biology v.42 n.1 suppl.1 2019 reponame:Genetics and Molecular Biology instname:Sociedade Brasileira de Genética (SBG) instacron:SBG |
instname_str |
Sociedade Brasileira de Genética (SBG) |
instacron_str |
SBG |
institution |
SBG |
reponame_str |
Genetics and Molecular Biology |
collection |
Genetics and Molecular Biology |
repository.name.fl_str_mv |
Genetics and Molecular Biology - Sociedade Brasileira de Genética (SBG) |
repository.mail.fl_str_mv |
||editor@gmb.org.br |
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1752122389333803008 |