Clinical Genetics In Developing Countries: The Case Of Brazil

dc.creatorMarques-de-Faria A.P.
dc.creatorFerraz V.E.F.
dc.creatorAcosta A.X.
dc.creatorBrunoni D.
dc.date2003
dc.date2015-06-30T17:30:50Z
dc.date2015-11-26T14:09:56Z
dc.date2015-06-30T17:30:50Z
dc.date2015-11-26T14:09:56Z
dc.date.accessioned2018-03-28T21:10:34Z
dc.date.available2018-03-28T21:10:34Z
dc.identifier
dc.identifierCommunity Genetics. , v. 7, n. 02/03/15, p. 95 - 105, 2003.
dc.identifier14222795
dc.identifier10.1159/000080777
dc.identifierhttp://www.scopus.com/inward/record.url?eid=2-s2.0-8344231677&partnerID=40&md5=b5a378fa5a9026c96a4a9a580254cb02
dc.identifierhttp://www.repositorio.unicamp.br/handle/REPOSIP/102389
dc.identifierhttp://repositorio.unicamp.br/jspui/handle/REPOSIP/102389
dc.identifier2-s2.0-8344231677
dc.identifier.urihttp://repositorioslatinoamericanos.uchile.cl/handle/2250/1241379
dc.descriptionThere are many impediments to the progress of clinical and medical genetics in developing countries. Higher priorities concerning basic health care usually take precedence over genetic diseases and birth defects among medical professionals and public health officials. This is so in spite of the fact that the global prevalence of these conditions seems higher than in the developed world and that limited resources enhance the burden on individuals, families and populations. Furthermore, as a consequence of recent advances in medical genetics, demand for genetic services has increased, reinforcing the need for programs for the management and prevention of genetic diseases and birth defects, especially at primary health care level. An overview of these issues in Brazil is presented here, with information on the health system, the evolution of medical and clinical genetics in the country, and the situation of medical and clinical genetic services. We discuss proposals for implementing appropriate, ethically acceptable and equitable clinical genetic services for the Brazilian population. Copyright © 2004 S. Karger AG, Basel.
dc.description7
dc.description02/03/15
dc.description95
dc.description105
dc.description(2002) Human Genetics Programme, 2002: Collaboration in Medical Genetics, , WHO/HGN/WG/02.2
dc.description(1999) Human Genetics, 1999. Services for the Prevention and Management of Genetic Disorders and Birth Defects in Developing Countries, , Report of a joint WHO/WAOPBD meeting. WHO/HGN/GL/WAOPBD/99.1
dc.description(2002) The State of the World's Children 2003, , New York, UNICEF
dc.description(1999) Human Genetics Programme 2000: Primary Health Care Approaches for Prevention and Control of Congenital and Genetic Disorders, , WHO/HGN/WG/00.1
dc.description(2001) Human Genetics Programme 2001: Review of Ethical Issues in Medical Genetics, , WHO/HGN/ETH/00.4
dc.descriptionChristianson, A.L., Medical genetics in primary health care (2000) Indian J Pediatr, 67, pp. 831-835
dc.descriptionAlwan, A., Modell, B., (1997) Community Control of Genetic and Congenital Disorders, , EMRO Technical Publications Series 24. Alexandria, WHO Eastern Mediterranean Regional Office
dc.descriptionChristianson, A.L., Venter, P.A., Modiba, J.H., Nelson, M.M., Development of a primary health care clinical genetic service in rural South Africa - The Northern Province experience, 1990-1996 (2000) Community Genet, 3, pp. 77-84
dc.descriptionCastilla, E.E., Orioli, I.M., ECLAMC: The Latin-American Collaborative Study of Congenital Malformations (2004) Community Genet, 7, pp. 76-94
dc.description(1998) Human Genetics Programme 1998: Medical Genetic Services in Latin American, , WHO/HGN/CONS/MGS/98.4
dc.descriptionBrunoni, D., Estado atual do desenvolvimento dos serviços de genética médica no Brasil (1997) Genet Mol Biol, 20 (1 SUPPL.), pp. 11-23
dc.description(2002), http://www.ibge.gov.br/brasil_em_sintese/tabelas/, IBGE - Fundação Instituto Brasileiro de Geografia e Estatística(2000) Censo Demográfico, , http://www.ibge.gov.br
dc.descriptionhttp://www.datasus.gov.br, DATASUS - Ministério da SaúdeCarvalho-Silva, D.R., Santos, F.R., Rocha, J., Pena, S.D., The phylogeography of Brazilian Y-chromosome lineages (2001) Am J Hum Genet, 68, pp. 281-286
dc.descriptionSpecial Session on Children. National Reports (2001) Report of the Federative Republic of Brazil on the Attainment of the Goals Set at the World Summit for Children, , http://www.unicef.org/specialsession/how_country/, September
dc.description(2003) Human Development Report, , http://www.undp.org/hdr2003/
dc.descriptionVictora, C.S., Barros, F.C., Infant mortality due to perinatal causes in Brazil: Trends, regional patterns and possible interventions (2001) São Paulo Med J, 119, pp. 33-42
dc.description(2004), http://www.portalmedico.org.br, Conselho Federal de MedicinaSenado Federal - Constituição da República Federativa do Brasil, 1988. Imprensa Oficial do Estado S.A. IMESP, 1988Castilla, E.E., Impact of congenital malformations on public health. Situation in South America (2000) Front Fetal Health, 2, pp. 15-16
dc.descriptionPinto, L.I.B., Paskulin, G.A., Graziadio, C., Mendez, H.M.M., The frequency of genetic diseases in a high risk ward in a pediatric hospital (1996) Braz J Genet, 19, pp. 145-149
dc.descriptionSalzano, F.M., Public health in the First and Third Worlds: Challenges and perspectives (2002) Ciência Saúde Coletiva, 7, pp. 7-16
dc.descriptionRoisenberg, I., (1971) Hemofilia e Estados HemofilóIdes No Rio Grande Do Sul: Refqüência, Fisiologia e Herança, , Universidade Federal do Rio Grande do Sul, Departamento de Genética, Publicação No 1
dc.descriptionBuchalter, M.S., Wanmacher, C.M.D., Wajner, M., Tay-Sachs disease: Screening and prevention program in Porto Alegre (1983) Rev Bras Genet, 6, pp. 539-547
dc.descriptionAzevedo, W.C., Silva, M.L.F., Grasse, C.B., Azevêdo, E.S., Deficiência de glicose-6-fosfato desidrogenase em pacientes de um hospital de Salvador, Bahia, Brasil (1978) Rev Brasil Pesquisas Méd Biol, 11, pp. 49-52
dc.descriptionSena, L.L.A., Ramalho, A.S., Clinical evaluation of glucose-6-phosphate dehydrogenase deficiency in a Brazilian population (1985) Rev Bras Genet, 8, pp. 89-96
dc.descriptionSaad, S.T.O., Salles, T.S.I., Carvalho, M.H.M., Costa, F.F., Molecular characterization of glucose-6-phosphate dehydrogenase in Brazil (1997) Hum Heredity, 47, pp. 17-21
dc.descriptionArruda, V.R., Siqueira, L.H., Gonçalves, M.S., Von Zuben, P.M., Soares, M.C.P., Menezes, R., Annichino-Bizzacchi, J.M., Costa, F.F., Prevalence of the mutation C677→T in the methylene tetrahydrofolate reductase gene among distinct ethnic groups in Brazil (1998) Am J Med Genet, 78, pp. 332-335
dc.descriptionSartorato, E.L., Gottardi, E., Oliveira, C.A., Magna, L.A., Annichino-Bizzachi, J.M., Seixas, C.A., Maciel-Guerra, A.T., Determination of the frequency of 35delG allele in Brazilian neonates (2000) Clin Genet, 58, pp. 339-340
dc.descriptionFreire-Maia, N., Pinheiro, M., (1985) Ectodermal Dysplasias: A Clinical and Genetic Study, , New York, Liss
dc.descriptionQuelce-Salgado, A., A new type of dwarfism with various bone aplasias and hypoplasias of the extremities (1964) Acta Genet Stat Med, 14, pp. 63-66
dc.descriptionFreire-Maia, A., Genetics of acheiropodia (the handless and footless families of Brazil) (1975) Clin Genet, 7, pp. 98-102
dc.descriptionLopes-Cendes, I., Teive, H.G., Calcagnotto, M.E., Da Costa, J.C., Cardoso, F., Viana, E., Frequency of the different mutations causing spinocerebellar ataxia (SCA1, SCA2, MJD/SCA3 and DRPLA) in a large group of Brazilian patients (1997) Arq Neuropsiquiatr, 55, pp. 519-529
dc.descriptionJardim, L.B., Leite, J.C.L., Silveira, E.L., Pereira, M.L., Giugliani, R., Resultados preliminares de um programa de detecção precoce para aminoacidopatias no Rio Grande do Sul (1992) J Pediatr, 68, pp. 189-242
dc.descriptionSouza, C.F.M., Schwartz, I., Giugliani, R., Neonatal screening of metabolic disorders (2002) Ciência Saúde Coletiva, 7, pp. 129-137
dc.descriptionPrograma Nacional de Triagem Neonatal (2002) Reduzindo As Desigualdades e Ampliando O Acesso à Assistência à Saúde No Brasil 1998-2002. Série G. Estatística e Informação Em Saúde, , Brasília, Ministério da Saúde, Secretaria de Assistência à Saúde
dc.descriptionSalzano, F.M., Tondo, C.V., Hemoglobin types in Brazilian populations (1982) Hemoglobin, 6, pp. 85-97
dc.descriptionRamalho, A.S., (1986) As Hemoglobinopatias Hereditárias: Um Problema de Saúde Pública No Brasil, , Ribeirão Preto, Sociedade Brasileira de Genética/Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)
dc.descriptionZago, M.A., Costa, F.F., Hereditary haemoglobin disorders in Brazil (1985) Trans R Soc Trop Med Hyg, 79, pp. 385-388
dc.descriptionNaoum, P.C., Isiqui, W.D., Pagotto, R.R., Domingos, C.R.B., Prevalência de hemoglobinopatias em amostras de proveniência diferenciada (1989) Bol Soc Bras Hematol Hemoter, 11, pp. 69-72
dc.descriptionTeixeira, R.C., Ramalho, A.S., Genetics and public health: Response of a Brazilian population to an optional Hemoglobinopathy Program (1994) Braz J Genet, 17, pp. 435-438
dc.descriptionSerra, H.G., Martins, C.S.B., Silva, R.B.P., Ramalho, A.S., Evaluation of genetic counseling offered to Brazilian carriers of the beta-thalassemia trait and their relatives (1995) Braz J Genet, 18, pp. 479-484
dc.descriptionGabinete do Ministro. Portaria GM/N° 822, de 6 de junho de 2001 (2001) Diário Oficial, 111. , Seção 1
dc.descriptionRamalho, A.S., Magna, L.A., Paiva-e-Silva, R.B., Government directive MS 822/01: Unique aspects of hemoglobinopathies on public health in Brazil (2003) Cad Saúde Pública, 19, pp. 1195-1199
dc.descriptionCarothers, A.D., Castilla, E.E., Dutra, M.G., Hook, E.B., Search for ethnic, geographic, and other factors in the epidemiology of Down syndrome in South America: Analysis of data from the ECLAMC project (2001) Am J Med Genet., 103, pp. 149-156
dc.descriptionBorovik, C.L., Brunoni, D., Sato, A.E., Barletta, H., Dualibi-Casanova, L., Hironaka, H.C., Brunoni, L.R., Costa Ede, C., Chromosome abnormalities in selected newborn infants with malformations in Brazil (1989) Am J Med Genet, 34, pp. 320-324
dc.descriptionOrioli, I., Availability of teratogens in Brazil: Misoprostol and thalidomide (2000) Front Fetal Health, 2, pp. 8-9
dc.descriptionGonzales, C.H., Dias, M.J.M., Congenital malformation in children exposed to misoprostol in utero (1999) Front Fetal Health, 1, p. 15
dc.descriptionMcKusick, A.V., Medical genetics. A 40-year perspective on the evolution of a medical specialty from a basic science (1993) JAMA, 270, pp. 2351-2356
dc.descriptionBeiguelman, B., Human and medical genetics in Brazil (2000) Genet Mol Biol, 23, pp. 277-281
dc.descriptionPorciúncula, C.G.G., Marques-de-Faria, A.P., Norato, D.Y.J., O ensino de Genética nos cursos de Medicina do país (2002) Livro de Resumos Do XIV Congresso Brasileiro de Genética Clínica, p. 61
dc.description(2004), http://www.mec.gov.br/sesu/CNRM/consultaCNRM.asp, Ministério da Educação: Secretaria de Educação Superior. Comissão Nacional de Residência Médicahttp://www.amb.org.br, Associação Médica Brasileirahttp://sbgclin.org.br, Sociedade Brasileira de Genética ClínicaGreendale, K., Pyeritz, R.E., Empowering primary care health professionals in medical genetics: How soon? How fast? How far? (2001) Am J Med Genet, 106, pp. 223-232
dc.descriptionDonnai, D., Genetic services (2002) Clin Genet, 61, pp. 1-6
dc.descriptionRamalho, A.S., Paiva E Silva, R.B., Teixeira, R.C., Compri, M.B., Haemoglobin screening: Response of a Brazilian community to optional programs (1999) Cad Saúde Pública, 15, pp. 591-595
dc.descriptionRamalho, A.S., Paiva E Silva, R.B., Community genetics: A new discipline and its application in Brazil (2000) Cad Saúde Pública, 16, pp. 261-263
dc.descriptionPenchaszadeh, V.B., Christianson, A.L., Giugliani, R., Boulyjenkov, V., Katz, M., Services for the prevention and management of genetic disorders and birth defects in developing countries (1999) Community Genet, 2, pp. 196-201
dc.descriptionGuttmacher, A.E., Jenkins, F., Uhlmann, W.R., Genomic medicine: Who will practice it? A call to open arms (2001) Am J Med Genet, 106, pp. 216-222
dc.description(2000) Statement of the WHO Expert Consultation on New Development in Human Genetics, , WHO/HGN/WG/00.3 2000
dc.languageen
dc.publisher
dc.relationCommunity Genetics
dc.rightsfechado
dc.sourceScopus
dc.titleClinical Genetics In Developing Countries: The Case Of Brazil
dc.typeArtículos de revistas


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