RESUMO
There is a shortage of genetics providers worldwide and access is limited to large academic centers. Telemedicine programs can facilitate access to genetic services to patients living in remote locations. The goal of this study was to improve access to genetic services in the Dominican Republic by creating a partnership model between a pediatrician and geneticist. This approach has been used within the United States but not in the setting of two different countries, healthcare system, and cultures. Patients were referred to the Centro de Obstetricia y Ginecologia program if a syndromic or genetic etiology was suspected by their local provider. Pediatrician first evaluated all patients prior to telemedicine appointment to review family and medical history. All genetic visits were scheduled within 2 weeks of referral in collaboration with telehealth program at Cincinnati Children's Hospital Medical Center. A total of 66 individuals were evaluated during a period of 5 years. Fifty-seven individuals underwent genetic studies, and a molecular diagnosis was made in 39 individuals. Exome sequencing was the most common first line test when differential diagnosis was broad (n = 40). The most common inheritance was autosomal recessive in 15 individuals, followed by 13 individuals with autosomal dominant disorders, 7 individuals X-linked disorders, and 4 individuals with chromosomal abnormalities. This study provides data to support utility of geneticist and pediatrician partnership to provide outreach telemedicine diagnostics and management services for rare diseases in an international setting.
Assuntos
Telemedicina , Criança , Humanos , Pediatras , Estados UnidosRESUMO
INTRODUCCIÓN: En Tucumán la concentración de arsénico en agua fluctúa entre 0,1 y 0,01 ppm. El sistema de salud carece de registro de casos. OBJETIVOS: Elaborar un mapa de riesgo ambiental, estimar la prevalencia de hidroarsenicismo crónico regional endémico (HACRE) y explorar la relación entre la concentración de arsénico en agua y las manifestaciones clínicas en Villa Belgrano, Tucumán. MÉTODOS: estudio transversal. Se analizaron todas las fuentes de agua y se seleccionaron aleatoriamente 119 personas adultas. Para la definición de caso de HACRE se utilizó un criterio diferente al de la Organización Mundial de la Salud (OMS) en concentración de arsénico en agua, orina y cabello y tiempo de consumo, siendo éste más sensible en el valor de corte de arsénico en el agua. Se consideró caso definido a quien había consumido agua con un nivel de arsénico mayor a 0,01 partes por millón(ppm) por más de 5 años y presentado más de 3 ug/g en cabello y/o más de 40 ug/g en orina, con clínica compatible. RESULTADOS: El 75% de las fuentes de agua tenían valores mayores a 0,01 ppm de arsénico. Con los criterios de la OMS, se registraron 51 casos probables y no hubo casos definidos. Según los criterios del estudio, hubo 3 casos definidos y una prevalencia del 2,6%. No se halló una asociación entre lesiones no cutáneas o cutáneas graves y valores mayores a 0,01 ppm. CONCLUSIONES: La prevalencia estimada según los criterios del estudio tuvo valores similares a los establecidos en la bibliografía bajo las condiciones en cuestión, aunque con otros criterios no comparables.
INTRODUCTION: In Tucumán, the arsenic concentration in water fluctuates between 0,1 and 0,01 ppm.The provincial health system does not have any record of cases. OBJECTIVES: To identify and create a map of environmental risk, estimating also chronic endemic regional hydroarsenicism(CERHA) prevalence in Villa Belgrano and exploring the relation between arsenic concentration in water and clinical manifestations. METHODS: A cross-sectional study was performed. All water sources were analyzed and 119 adults were randomly selected. The definition of case considered the own criteria, which differed from the ones of World Health Organization (WHO) regarding arsenic concentration in water, urine and hair as well as time of consumption. The study criteria is most sensible in arsenic water concentration. Those who had consumed water with more than 0.01 parts per million (ppm) for over 5 years and presented more than 3 ug/g in hair and/or more than 40 ug/gin urine with compatible clinical signs were considered as cases. RESULTS: 75 % of water sources had arsenic levels higher than 0.01 ppm. According to the WHO criteria, there were 51 probable cases and there was not any defined case. According to the study criteria, there were 3 defined cases with a prevalence of 2.6%. The study did not find an association between withnon-cutaneous or serious cutaneous injuries and arsenic levelin water higher than 0.01 ppm. CONCLUSIONS: The prevalence estimated according to the study criteria was similar to the one established in the bibliography under the same conditions, though with other criteria which are not comparable.