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  • 标题:Avaliação genética itinerante de crianças e adolescentes com deficiência vinculadas à Estratégia Saúde da Família
  • 作者:Daniela Koeller Rodrigues Vieira ; Dafne Dain Gandelman Horovitz ; Juan Clinton Llerena Júnior
  • 期刊名称:Revista Brasileira de Medicina de Família e Comunidade
  • 印刷版ISSN:1809-5909
  • 电子版ISSN:2179-7994
  • 出版年度:2012
  • 卷号:7
  • 期号:24
  • 页码:196-203
  • 语种:Portuguese
  • 出版社:Sociedade Brasileira de Medicina de Família e Comunidade (SBMFC)
  • 摘要:Genetic disorders affect about 3-10% of the population and can lead to chronic health problems and disabilities. The present work aimed to describe a new experience in health care in clinical genetics by an itinerant team of experts that evaluated patients selected by the primary care through the supplementary registration form for people with disabilities. A descriptive and transversal study was carried out with patients, who were previously identified by the supplementary registration form for people with disabilities, evaluated by the team in 2005, 2008 and 2009, in a total of 324 families. The etiology of disability was defined as genetic in 38% of the cases and environmental in 32.7%. The prevalence of congenital malformations was 31.8%. Family Health Strategy was utilized as a gateway to expand the access to health services for people with highly complex genetic diseases, birth defects and disabilities. The results expose the need to interiorize medical genetics and its interfaces with primary care in Brazil, reinforcing the importance of implementing health policies in this area.
  • 关键词:Primary Health Care;Birth Defects;Medical Genetics;Disabilities;Diagnosis;Atención Primaria de la Salud;Defectos Congénitos;Genética Médica;Deficiencia;Diagnóstico;Atenção Primária à Saúde;Defeitos Congênitos;Genética Médica;Deficiência;Diagnóstico
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