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1.
Am J Med Genet C Semin Med Genet ; 163C(4): 271-82, 2013 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-24132932

RESUMEN

Craniofacial microsomia (CFM) is a complex condition associated with microtia, mandibular hypoplasia, and preauricular tags. It is the second most common congenital facial condition treated in many craniofacial centers and requires longitudinal multidisciplinary patient care. The purpose of this article is to summarize current recommendations for clinical management and discuss opportunities to advance clinical research in CFM.


Asunto(s)
Anomalías Congénitas/terapia , Oído/anomalías , Asimetría Facial/terapia , Síndrome de Goldenhar/terapia , Anomalías Congénitas/genética , Anomalías Congénitas/patología , Microtia Congénita , Oído/patología , Asimetría Facial/genética , Asimetría Facial/patología , Síndrome de Goldenhar/genética , Síndrome de Goldenhar/patología , Humanos
2.
Public Health Genomics ; 12(1): 53-8, 2009.
Artículo en Inglés | MEDLINE | ID: mdl-19023184

RESUMEN

Brazil represents half of South America and one third of Latin America, having more than 186 million inhabitants. After China and India it is the third largest developing country in the world. The wealth is unequally distributed among the states and among the people. Brazil has a large and complex health care system. A Universal Public Health System (SUS: Sistema SPACEnico de Saúde) covers the medical expenses for 80% of the population. The genetic structure of the population is very complex, including a large proportion of tri- hybrid persons, genetic isolates, and a panmictic large majority. Genetic services are offered at 64 genetic centers, half of them public and free. Nationwide networks are operating for inborn errors of metabolism, oncogenetics, and craniofacial anomalies. The Brazilian Society of Medical Genetics (SBGM) has granted 120 board certifications since 1986, and 7 recognized residences in medical genetics are operating in the country. Three main public health actions promoted by the federal government have been undertaken in the last decade, ultimately aimed at the prevention of birth defects. Since 1999, birth defects are reported for all 3 million annual live births, several vaccination strategies aim at the eradication of rubella, and wheat and maize flours are fortified with folic acid. Currently, the government distributes over 2 million US dollars to finance 14 research projects aimed at providing the basis for the adequate prevention and care of genetics disorders through the SUS. Continuity of this proactive attitude of the government in the area of genomics in public health is desired.


Asunto(s)
Enfermedad/genética , Servicios Genéticos/estadística & datos numéricos , Genómica , Planificación en Salud , Tamizaje Masivo , Salud Pública/educación , Salud Pública/tendencias , Brasil , Atención a la Salud , Política de Salud , Humanos
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