Possible Association Between Zika Virus Infection and Microcephaly - Brazil, 2015.

In early 2015, an outbreak of Zika virus, a flavivirus transmitted by Aedes mosquitoes, was identified in northeast Brazil, an area where dengue virus was also circulating. By September, reports of an increase in the number of infants born with microcephaly in Zika virus-affected areas began to emerge, and Zika virus RNA was identified in the amniotic fluid of two women whose fetuses had been found to have microcephaly by prenatal ultrasound. The Brazil Ministry of Health (MoH) established a task force to investigate the possible association of microcephaly with Zika virus infection during pregnancy and a registry for incident microcephaly cases (head circumference ≥2 standard deviations [SD] below the mean for sex and gestational age at birth) and pregnancy outcomes among women suspected to have had Zika virus infection during pregnancy. Among a cohort of 35 infants with microcephaly born during August-October 2015 in eight of Brazil's 26 states and reported to the registry, the mothers of all 35 had lived in or visited Zika virus-affected areas during pregnancy, 25 (71%) infants had severe microcephaly (head circumference >3 SD below the mean for sex and gestational age), 17 (49%) had at least one neurologic abnormality, and among 27 infants who had neuroimaging studies, all had abnormalities. Tests for other congenital infections were negative. All infants had a lumbar puncture as part of the evaluation and cerebrospinal fluid (CSF) samples were sent to a reference laboratory in Brazil for Zika virus testing; results are not yet available. Further studies are needed to confirm the association of microcephaly with Zika virus infection during pregnancy and to understand any other adverse pregnancy outcomes associated with Zika virus infection. Pregnant women in Zika virus-affected areas should protect themselves from mosquito bites by using air conditioning, screens, or nets when indoors, wearing long sleeves and pants, using permethrin-treated clothing and gear, and using insect repellents when outdoors. Pregnant and lactating women can use all U.S. Environmental Protection Agency (EPA)-registered insect repellents according to the product label.

Enzyme replacement therapy for Mucopolysaccharidosis Type I among patients followed within the MPS Brazil Network.

Mucopolysaccharidosis type I (MPS I) is a rare lysosomal disorder caused by deficiency of alpha-L-iduronidase. Few clinical trials have assessed the effect of enzyme replacement therapy (ERT) for this condition. We conducted an exploratory, open-label, non-randomized, multicenter cohort study of patients with MPS I. Data were collected from questionnaires completed by attending physicians at the time of diagnosis (T1; n = 34) and at a median time of 2.5 years later (T2; n = 24/34). The 24 patients for whom data were available at T2 were allocated into groups: A, no ERT (9 patients; median age at T1 = 36 months; 6 with severe phenotype); B, on ERT (15 patients; median age at T1 = 33 months; 4 with severe phenotype). For all variables in which there was no between-group difference at baseline, a delta of ≥ ± 20% was considered clinically relevant. The following clinically relevant differences were identified in group B in T2: lower rates of mortality and reported hospitalization for respiratory infection; lower frequency of hepatosplenomegaly; increased reported rates of obstructive sleep apnea syndrome and hearing loss; and stabilization of gibbus deformity. These changes could be due to the effect of ERT or of other therapies which have also been found more frequently in group B. Our findings suggest MPS I patients on ERT also receive a better overall care. ERT may have a positive effect on respiratory morbidity and overall mortality in patients with MPS I. Additional studies focusing on these outcomes and on other therapies should be performed.

Qualificação e provimento de médicos no contexto da Política Nacional de Atenção Integral às Pessoas com Doenças Raras no Sistema Único de Saúde (SUS) / Qualification and provision of physicians in the context of the National Policy on Comprehensive Care of People with Rare Diseases in the Brazilian National Health System (SUS) / Calificación y provisión de médicos en el contexto de la Política Nacional de Atención Integral a las Personas con Enfermedades Raras en el Sistema Brasileño de Salud (SUS)

Este ensaio teórico reflete sobre a qualificação e o provimento de médicos no contexto da Política Nacional de Atenção Integral às Pessoas com Doenças Raras no SUS. Para isso, apresentamos a Política e suas diretrizes, e situamos a discussão em torno de duas estratégias integradas: o provimento e a fixação de médicos geneticistas; e a capacitação de profissionais da Atenção Primária à Saúde em relação às doenças genéticas e aos defeitos congênitos. Finalmente, considerando as Diretrizes Curriculares Nacionais do Curso de Graduação em Medicina, apresentamos uma proposta de perfil de competência mínimo em Genética, elaborada para instrumentalizar os cursos de graduação da área da Saúde, em particular os cursos de Medicina. Assim, oferecemos um referencial teórico para apoiar o delineamento de programas de educação e formação em Saúde, contribuindo para inclusão do cuidado em Genética no SUS.(AU)

This theoretical essay reflects on the qualification and provision of physicians in the context of the National Policy on Comprehensive Care of People with Rare Diseases in the SUS. To carry out this analysis, we introduce the Policy and its guidelines, with a focus on discussion of two integrated strategies: the provision and settlement of geneticist physicians; and training of primary care professionals with regard to genetic diseases and congenital defects. Finally, in view of the Brazilian National Curriculum Guidelines for undergraduate medical courses, we suggest a profile of minimum competencies required in Genetics, developed in order to provide resources to undergraduate courses in Health, in particular, medical courses. We provide a theoretical reference to support the outline of programs of education and training in Health, contributing to including Genetics in the SUS.(AU)

Este ensayo teórico reflexiona sobre la calificación y la provisión de médicos en el contexto de la Política Nacional de Atención Integral a las Personas con Enfermedades Raras en el SUS. Para ello, presentamos la Política y sus directrices y situamos la discusión alrededor de dos estrategias integradas: la provisión y la fijación en el área de médicos genetistas y la capacitación de profesionales de Atención Primaria a la Salud en relación a las enfermedades genéticas y a los defectos congénitos. Finalmente, considerando las Directrices Curriculares Nacionales del Curso de Graduación en Medicina, presentamos una propuesta de perfil de competencia mínimo en Genética, elaborada para instrumentalizar los cursos de graduación del área de la Salud, en particular los cursos de Medicina. De esta forma, ofrecemos una referencia teórica para apoyar el delineamiento de programas de educación y formación en Salud, contribuyendo para la inclusión del cuidado en Genética en el SUS.(AU)