Molecular characterisation of congenital myasthenic syndromes in Southern Brazil

Objective To perform genetic testing of patients with congenital myasthenic syndromes (CMS) from the Southern Brazilian state of Parana. Patients and methods Twenty-five CMS patients from 18 independent families were included in the study. Known CMS genes were sequenced and restriction digest for the mutation RAPSN p.N88K was performed in all patients. Results We identified recessive mutations of CHRNE in ten families, mutations in DOK7 in three families and mutations in COLQ, CHRNA1 and CHRNB1 in one family each. The mutation CHRNE c. 70insG was found in six families. We have repeatedly identified this mutation in patients from Spain and Portugal and haplotype studies indicate that CHRNE c. 70insG derives from a common ancestor. Conclusions Recessive mutations in CHRNE are the major cause of CMS in Southern Brazil with a common mutation introduced by Hispanic settlers. The second most common cause is mutations in DOK7. The minimum prevalence of CMS in Parana is 0.18/100 000

Molecular characterisation of congenital myasthenic syndromes in Southern Brazil

Objective To perform genetic testing of patients with congenital myasthenic syndromes (CMS) from the Southern Brazilian state of Parana. Patients and methods Twenty-five CMS patients from 18 independent families were included in the study. Known CMS genes were sequenced and restriction digest for the mutation RAPSN p.N88K was performed in all patients. Results We identified recessive mutations of CHRNE in ten families, mutations in DOK7 in three families and mutations in COLQ, CHRNA1 and CHRNB1 in one family each. The mutation CHRNE c. 70insG was found in six families. We have repeatedly identified this mutation in patients from Spain and Portugal and haplotype studies indicate that CHRNE c. 70insG derives from a common ancestor. Conclusions Recessive mutations in CHRNE are the major cause of CMS in Southern Brazil with a common mutation introduced by Hispanic settlers. The second most common cause is mutations in DOK7. The minimum prevalence of CMS in Parana is 0.18/100 000

Antimicrobial and plant growth-promoting properties of the cacao endophyte Bacillus subtilis ALB629.

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Abordagem psicossocial e saúde de mulheres negras: vulnerabilidades, direitos e resiliência

Resumo Este artigo apresenta uma revisão crítica de teorias, técnicas e práticas que visam a potencialização da saúde de mulheres negras com foco em concepções sobre resiliência. Além da literatura acadêmica, em especial da psicologia, o texto mobiliza diferentes fontes sobre relações raciais, inclusive a produção do movimento social. Mulheres negras estão expostas à privação de direitos humanos, à ineficiência dos programas de governo na garantia do direito à educação e à saúde integral, entre outros. Estão também expostas à incidência frequente do racismo e do sexismo, que se traduzem em prejuízos à sua saúde. A concepção processual de resiliência adotada neste artigo, que resulta tanto da reflexão crítica sobre a literatura como de resultados de pesquisa apresentados, fortalece a adoção de uma perspectiva psicossocial, resultante da análise das vulnerabilidades integrada ao quadro dos direitos humanos. Conclui-se pela produtividade de iniciativas que incluam a sabedoria prática das mulheres negras e a valorização de experiências coletivas e transgeracionais que as apoiam para superar os contextos de alta vulnerabilidade a que estão expostas, estimulando a potencialização de processos de resiliência. Nessa perspectiva será necessário considerar não apenas o acolhimento das mulheres negras, mas também suas experiências e instâncias de pertencimento, suas trajetórias, suas redes, comunidades e territórios

Serological detection of antibodies against Paracoccidioides brasiliensis in dogs with leishmaniasis

The aim of this study was to detect antibodies against Paracoccidioides brasiliensis in dogs seropositive and seronegative for leishmaniasis. Sera from 836 dogs (449 positive and 387 negative to leishmaniasis) were analysed by ELISA and the immunodiffusion test using gp43 and exoantigen, respectively. The analysis of the 836 serum samples by ELISA and the immunodiffusion test showed a positivity of 67.8 % and 7.3%, respectively, for P. brasiliensis infection. The dogs positive to leishmaniasis showed a higher reactivity to gp43 (79.9%) and exoantigen (12.7%) than the negative ones (54.0% and 1.0%, respectively). The higher reactivity to P. brasiliensis antigens may be due to cross-reactivity or a co-infection of dogs by Leishmania and P. brasiliensis. The lower correlation (0.187) observed between reactivity to gp43 and Leishmania antigen reinforces the latter hypothesis