[Clinical community genetics: exploring genetic disorders in Boyacá, Colombia].

Autor:	Velasco HM; MD., Esp. Genética Médica, M. Sc. Ciencias Biológicas, M. Sc. Genética Humana, Departamento de Morfología, Universidad Nacional de Colombia. hmvelascop@unal.edu.co., Martin ÁM; MD., M. Sc. Genética Humana. Departamento de Morfología, Universidad Nacional de Colombia. ammartinr@unal.edu.co., Galvis J; MD., M. Sc. Genética Humana., M. Sc. Genética Humana, Departamento de Morfología, Universidad Nacional de Colombia. juana7@gmail.com., Buelvas L; MD., M. Sc. Genética Humana. Departamento de Morfología, Universidad Nacional de Colombia. linapatriciabuelvas@gmail.com., Sánchez Y; MD., Esp. Neuropediatría. Facultad de Medicina, Universidad Pedagógica y Tecnológica de Colombia. Hospital San Rafael. Tunja, Boyacá, Colombia. yassg@hotmail.com., Umaña LA; MD., Esp. Pediatría. Esp. Genética Clínica. Esp. Genética Bioquímica Médica. Department of Pediatrics, Division of Genetics and Metabolism, University of Texas Southwestern Medical Center, Dallas, TX, USA. umanagen@gmail.com., Acosta J; MD., Esp. Genética Médica. Instituto de Ortopedia Roosevelt. M. Sc. Genética Humana, Departamento de Morfología, Universidad Nacional de Colombia. joacaguio@hotmail.com.
Jazyk:	Spanish; Castilian
Zdroj:	Revista de salud publica (Bogota, Colombia) [Rev Salud Publica (Bogota)] 2017 Jan-Feb; Vol. 19 (1), pp. 32-38.
DOI:	10.15446/rsap.v19n1.55238
Abstrakt:	Objectives: To explore the incidence of syndromic genetic pathologies in Boyacá, Colombia, through a community genetics approach. Materials and Methods: A group made up by different medical specialists (geneticists, a pediatric neurologist, and a biochemical geneticist) developed clinical campaigns, in which patients with clinical suspicion of genetic diseases were involved. Demographic, epidemiological and clinical data were collected, and frequency calculations were made based on the collected data. Several training workshops for health personnel were done in each center visited. Results: Two genetic clusters were found: mucopolysaccharidosis type III, and Ellis-Van Creveld Syndrome, both of them with higher incidences than those found in the literature. Also, a high frequency of autosomal recessive diseases was found, as well as microdeletion/microduplication syndromes. Conclusions: Conventional mechanisms of medical attention must be established, in order to facilitate the access to an appropriate diagnosis and treatment. This work intended to provide support to patients, families and health care services personnel through the workshops and clinical campaigns, and to become a starting point to develop primary and secondary prevention processes.
Databáze:	MEDLINE
Externí odkaz:	Zobrazit plný text záznamu