Doença neurodegenerativa rara: caracterização dos portadores de doença de Huntington e ataxia espinocerebelar na Amazônia ocidental, Brasil / Rare neurodegenerative disease: characterization of huntington disease patients and spinocerebelar ataxia in western Amazon region, Brazil

Objetivou-se neste estudo caracterizar portadores de doenças neurodegenerativas raras e familiares quanto aos aspectos sociais, clínicos e assistências, pois a cronicidade dessas patologias faz com que seus portadores vivam longos períodos de dependência, sendo incapazes de realizar atividades do cotidiano, necessitando de cuidadores integralmente. Trata-se de uma pesquisa qualitativa, descritiva, realizada por meio de dados coletados nos relatórios desenvolvidos pelo laboratório de pesquisa. A amostra foi composta por dois grupos, um com membros afetados por Doença de Huntington e outro com afetados por Ataxia Espinocerebelar 2. Observou-se que esses distúrbios trazem grande impacto para a vida desses indivíduos, interferindo nas atividades corriqueiras. Além disso, verificou-se falta de capacitações dos profissionais de saúde para o devido acolhimento dessas pessoas e, por isso, salienta-se a necessidade de implantação de políticas públicas visando o acompanhamento e proteção dos pacientes e familiares afetados por essas doenças. (AU)

The objective of this study was to characterize patients with rare neurodegenerative diseases and their families, regarding social, clinical and assistance aspects, because these pathologies chronicity leads their patients to experience long periods of dependence, being unable to perform daily activities, requiring full-time caregivers. This is a qualitative research with a descriptive approach, carried out through data collected from the reports developed by members of the research group. The sample consisted of two groups, one affected by Huntington Disease, and the other affected by Spinocerebellar Ataxia 2. It was noted that these disorders have a great impact on the life of the individuals, interfering in their daily life activities. In addition, there is a lack of trained professionals to embrace these people; thus, the need to implement public policies to follow and protect the patients and their families affected by this disease is highlighted. (AU)

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 percent and 3.1 percent, respectively, a third from the peri-urban neighborhoods of Candelária/Bate-Estaca (1.8 percent), whereas a fourth, from the Research Center on Tropical Medicine/CEPEM (0.6 percent), was composed of malaria patients under treament. The fifth sample (3.4 percent) 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.

Improvement of a PCR test to diagnose infection by Mansonella ozzardi.

INTRODUCTION: Mansonelliasis is caused by Mansonella ozzardi. It is widespread in the Amazon region, with a high prevalence. The 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 efficacy, 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 filtration through membrane filters, which showed a sensitivity of 88.9% and a NPV of 84.6%, when compared to thick blood smears.

Improvement of a PCR test to diagnose infection by Mansonella ozzardi / 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. The 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 efficacy, the PCR technique was improved. RESULTS AND CONCLUSIONS: PCR demonstrated the best performance, with sensitivity and negative predictive values (NPV) of 100 percent, followed by blood filtration through membrane filters, which showed a sensitivity of 88.9 percent and a NPV of 84.6 percent, when compared to thick blood smears.

INTRODUÇÃO: A mansonelose é uma filariose causada pela Mansonella ozzardi, ocorrendo na Amazônia com prevalências de até 60 por cento. A técnica de diagnóstico habitual (hemoscopia através da gota espessa) tem baixa eficácia o para o diagnóstico de pacientes com baixa parasitemia. MÉTODOS: Neste contexto foi aperfeiçoada a técnica da PCR para seu diagnóstico. RESULTADOS E CONCLUSÕES: Quando comparada à gota espessa, a PCR apresenta sensibilidade de 100 por cento, e valor preditivo negativo (VPN) de 100 por cento mostrando eficácia bastante superior à técnica da filtração em membrana que apresenta sensibilidade de 88,9 por cento e VPN de 84,6 por cento, quando também comparada à gota espessa de sangue.