Doença neurodegenerativa rara: itinerário de portadores de doença de huntington em busca de diagnóstico e tratamento / Rare neurodegenerative disease: itinerary of huntington disease carriers in search of diagnosis and treatment

Objetivou-se neste estudo conhecer o itinerário percorrido por pessoas portadores de doença de Huntington (DH) em busca de diagnóstico e tratamento. Fizeram parte da pesquisa cinco pessoas com DH. A porta de entrada do itinerário identificado nesta pesquisa foi a Atenção Primária em Saúde, focando nos procedimentos realizados, incluindo exames laboratoriais e encaminhamentos para outros níveis de complexidade. Quanto à atenção secundária e terciária averiguou-se que costumam ser procuradas para a realização de exames mais complexos, como ressonância magnética, tomografias, atendimentos especializados. As instituições privadas e os centros de pesquisa acadêmica aparecem quando ofertam exames e apoio terapêutico. A trajetória das pessoas portadoras de doenças raras em busca do diagnóstico correto é carregada de dificuldades e revelaram que frequentemente ficam “perdidos” dentro da rede de atenção à saúde (RAS), percorrendo caminhos sem a devida orientação quando estão na tentativa de obter alguma resolutividade para seus problemas

Adequação da técnica da PCR para diagnóstico de infecção de Mansonella ozzardi

Introduction: Mansonelliasis is caused by Mansonella ozzardi. It is widespread in the Amazon region, with a high prevalence. Te common exam of thick blood smears stained with Giemsa shows low efficacy levels and has been an obstacle to diagnosing individuals with low blood parasitemia. Methods: In order to increase diagnosis efcacy, the PCR technique was improved. Results and Conclusions: PCR demonstrated the best performance, with sensitivity and negative predictive values (NPV) of 100%, followed by blood fltration through membrane filters, which showed a sensitivity of 88.9% and a NPV of 84.6%, when compared to thick blood smears

Distribution of the CCR5delta32 allele (gene variant CCR5) in Rondônia, Western Amazonian region, Brazil

Since around 1723, on the occasion of its initial colonization by Europeans, Rondonia has received successive waves of immigrants. This has been further swelled by individuals from northeastern Brazil, who began entering at the beginning of the twentieth century. The ethnic composition varies across the state according to the various sites of settlement of each wave of immigrants. We analyzed the frequency of the CCR5L32 allele of the CCR5 chemokine receptor, which is considered a Caucasian marker, in five sample sets from the population. Four were collected in Porto Velho, the state capital and the site of several waves of migration. Of these, two, from the Hospital de Base were comprised of HB Mothers and HB Newborns presenting allele frequencies of 3.5% and 3.1%, respectively, a third from the peri-urban neighborhoods of Candelária/Bate-Estaca (1.8%), whereas a fourth, from the Research Center on Tropical Medicine/CEPEM (0.6%), was composed of malaria patients under treament. The fifth sample (3.4%) came from the inland Quilombola village of Pedras Negras. Two homozygous individuals (CCR5Δ32/CCR5Δ32) were detected among the HB Mother samples. The frequency of this allele was heterogeneous and higher where the European inflow was more pronounced. The presence of the allele in Pedras Negras revealed European miscegenation in a community largely comprising Quilombolas