RESUMEN
Introducción: el síndrome Usher es una enfermedad determinada genéticamente, con una gran heterogeneidad clínica y genética, está caracterizada por hipoacusia neurosensorial de moderada a severa, retinosis pigmentaria progresiva y puede acompañarse de alteraciones en la función vestibular. Por su alta prevalencia en Holguín y su significativa discapacidad visual y auditiva, se hace necesario un instrumento preventivo y de diagnóstico. Objetivos: proponer una estrategia comunitaria de prevención primaria en estas familias y de diagnóstico precoz de esta afección genética, caracterizar evolutiva y clínicamente a todos los afectados.Métodos: se realizó un estudio descriptivo, tipo serie de casos a 53 pacientes con diagnóstico clínico de síndrome Usher, que son atendidos en Centro Provincial de Retinosis Pigmentaria de la provincia Holguín, en el periodo del febrero de 2009 a diciembre de 2015. Se revisaron las historias clínicas, recogiendo en un instrumento diseñado para el estudio todos los datos de interés, que permitió caracterizar el universo de estudio y determinar las variables susceptibles de análisis.Resultados: se logró caracterizar clínicamente el 100 por ciento de los enfermos estudiados. El 80 por ciento presentó la retinosis pigmentaria en la primera infancia. De estos, 33 afectados se encuentran en familias consanguíneas para el 62,26 por ciento, el número de familias consanguíneas fue de 17 para el 44,73 por ciento y las no consanguíneas 21 para el 55,26 por ciento.Conclusiones: se propone esta estrategia comunitaria que ayudará en la atención primaria a realizar prevención primaria en familias de afectados y diagnóstico precoz a los afectados lo cual permitió brindar un adecuado asesoramiento genético a estas familias(AU)
Introduction: Usher syndrome is a genetically determined disease with great clinical and genetic heterogeneity. It is characterized by sensorineural hearing loss from mild to severe, progressive retinitis pigmentosa and may be accompanied by alterations in the vestibular function. Because of its high prevalence in Holguin and significant visual and hearing impairment, a preventive and diagnostic tool is necessary.Objective: propose a Community strategy for primary prevention in these families and early diagnosis of this genetic condition. Characterize all clinically affected and describe the evolutionary characteristics.Method: a series of cases descriptive study was carried out in 53 patients with a clinical diagnosis of Usher Syndrome, who are treated at the Provincial Center for Pigmentary Retinosis of Holguín province from February 2009 to December 2015. Clinical records, collecting in an instrument designed for the study all the data of interest that allowed to characterize the universe of study and to determine the variables susceptible of analysis.Results: clinical characterization of 100% percent of the patients studied was achieved. 80 percent had retinitis pigmentosa in early childhood. Of them, 33 affected patients are involved in consanguineous families for 62.26 percent, there were 17 consanguineous families for 44.73 percent and outbred 21 for a 55.26 percent.Conclusions: this community strategy that will help in primary care to undertake primary prevention in families of patients and early diagnosis allowing those affected to provide appropriate genetic counseling to these families is proposed(AU)
Asunto(s)
Humanos , Masculino , Femenino , Niño , Adolescente , Adulto Joven , Adulto , Persona de Mediana Edad , Anciano , Síndromes de Usher/diagnóstico , Síndromes de Usher/genética , Síndromes de Usher/prevención & control , Diagnóstico Precoz , Servicios de Salud ComunitariaRESUMEN
PURPOSE: To describe the effects of genetics and genomics on children's health care. ORGANIZING CONSTRUCT: The breakthroughs in the Human Genome Project have great potential for disease prediction, treatment, and prevention in the health care of children with chronic health conditions. Most childhood conditions based on a single gene are influenced by a complex interaction of genetic and environmental factors. METHODS: A review of the literature was conducted to determine the most common childhood diseases linked to genetic causes. FINDINGS: Two examples were selected to depict how a health professional would use genetic knowledge to provide holistic health promotion and disease prevention. CONCLUSIONS: Knowledge of the interaction of the genetic profile coupled with a person's lifestyle, work environment, and family context provide a more holistic picture of a person's health profile. The clinical implications are that this knowledge will provide opportunities for health professionals to advise families on individualized treatment options or to tailor health promotion to future disease states based on genes and their interaction with the environment.