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

Análise e caracterização do gene de osmotina em cupuaçuzeiro.

O cupuaçuzeiro, Theobroma grandiflorum (Willd. ex Spreng.) Schum., pertence à família Malvaceae e é nativo da região Amazônica. A cultura do cupuaçuzeiro é afetada pela doença vassoura-de-bruxa, causada pelo fungo Moniliophthora perniciosa, provocando uma grande redução na produção de frutos. O conhecimento molecular da interação planta-patógeno é essencial para o desenvolvimento de ferramentas para o controle da doença, como por exemplo, a identificação de genótipos resistentes. Genes expressos em resposta ao ataque de patógenos são alvos de estudos desta interação. O objetivo do presente trabalho foi caracterizar um deles, o gene de osmotina, em cupuaçuzeiro. Sequências anotadas do transcriptoma de frutos de cupuaçuzeiro foram avaliadas quanto à presença deste gene. Os genes identificados foram comparados ao de osmotina de cacau pelo programa BLAST. Além disso, a organização do gene foi analisada por Southern blot, utilizando DNA genômico de cupuaçu. Identificaram-se duas sequências tipo osmotina: uma de 381 pb e outra de 477 pb, que correspondem a aproximadamente 63% e 79%, respectivamente, da região codificadora da proteína madura de cacau (607 pb). A comparação destas duas sequências com o gene de osmotina de cacau revelou identidade de cerca de 70%. Quanto à organização genômica em cupuaçu, foi observado que o gene está presente em múltiplas cópias. Estudos posteriores são necessários para investigar o envolvimento deste gene com os fenótipos de resistência à vassoura-de-bruxa

Identificação e análise de genes expressos em semente e polpa de cupuaçuzeiro.

O cupuaçuzeiro, Theobroma grandiflorum (Willd. ex Spreng.) Schumm., é a segunda espécie mais importante para a fruticultura da região amazônica, com cerca de 10% do mercado de todas as frutas amazônicas. Apesar de sua importância econômica, pouco se conhece sobre a base genética desta planta, em particular, as bases moleculares. Este trabalho teve como objetivo identificar genes expressos em frutos de cupuaçuzeiro, para disponibilizar uma nova ferramenta de apoio aos trabalhos de melhoramento genético. RNA dos frutos foram obtidos e, após processamento, as sequências foram determinadas por pirosequenciamento, utilizando-se a plataforma 454 (Roche Applied Science). Para os processos de limpeza das sequências e obtenção dos contigs, foram utilizados os programas est2assembly e mira assembly. A busca por similaridade foi realizada utilizando o programa BLASTX contra o banco de dados de proteínas NR (não-redundante). Cerca de 6.200 contigs apresentaram similaridade com proteínas previamente descritas. Em seguida, foram selecionados alguns contigs com potencial para utilização nos programas de melhoramento vegetal. Dentre eles, 20 foram similares a proteínas descritas para o gênero Theobroma e 6 para outros gêneros. As sequências selecionadas são relacionadas a genes codificadores de proteínas de reserva, de resposta a estresse, da via de síntese de ácidos graxos, etc. Análises mais aprofundadas das sequências permitirão a construção de uma importante base de dados moleculares para esta cultura

Social support and leisure-time physical activity: longitudinal evidence from the Brazilian Pró-Saúde cohort study

<p>Abstract</p> <p>Background</p> <p>Although social support has been observed to exert a beneficial influence on leisure-time physical activity (LTPA), multidimensional approaches examining social support and prospective evidence of its importance are scarce. The purpose of this study was to investigate how four dimensions of social support affect LTPA engagement, maintenance, type, and time spent by adults during a two-year follow-up.</p> <p>Methods</p> <p>This paper reports on a longitudinal study of 3,253 non-faculty public employees at a university in Rio de Janeiro (the Pró-Saúde study). LTPA was evaluated using a dichotomous question with a two-week reference period, and further questions concerning LTPA type (individual or group) and time spent on the activity. Social support was measured by the Medical Outcomes Study Social Support Scale (MOS-SSS). To assess the association between social support and LTPA, two different statistical models were used: binary and multinomial logistic regression models for dichotomous and polytomous outcomes, respectively. Models were adjusted separately for those who began LTPA in the middle of the follow up (engagement group) and for those who had maintained LTPA since the beginning of the follow up (maintenance group).</p> <p>Results</p> <p>After adjusting for confounders, statistically significant associations (p < 0.05) between dimensions of social support and group LTPA were found in the engagement group. Also, the emotional/information dimension was associated with time spent on LTPA (OR = 2.01; 95% CI 1.2-3.9). In the maintenance group, material support was associated with group LTPA (OR = 1.80; 95% CI; 1.1-3.1) and the positive social interaction dimension was associated with time spent on LTPA (OR = 1.65; 95% CI; 1.1-2.7).</p> <p>Conclusions</p> <p>All dimensions of social support influenced LTPA type or the time spent on the activity. However, our findings suggest that social support is more important in engagement than in maintenance. This finding is important, because it suggests that maintenance of LTPA must be associated with other factors beyond the individual's level of social support, such as a suitable environment and social/health policies directed towards the practice of LTPA.</p

Effectiveness of Insecticide Spraying and Culling of Dogs on the Incidence of Leishmania infantum Infection in Humans: A Cluster Randomized Trial in Teresina, Brazil

Background: To evaluate the effect of insecticide spraying for vector control and elimination of infected dogs on the incidence of human infection with L. infantum, a randomized community intervention trial was carried out in the city of Teresina, Brazil. Methods/Principal Findings Within each of ten localities in the city, four blocks were selected and randomized to 4 interventions: 1) spraying houses and animal pens with insecticide; 2) eliminating infected dogs; 3) combination of spraying and eliminating dogs, and 4) nothing. The main outcome is the incidence of infection assessed by the conversion of the Montenegro skin test (MST) after 18 months of follow-up in residents aged ≥1 year with no previous history of visceral leishmaniasis (VL). Reactions were measured at 48–72 h, induration of ≥5 mm considered positive. Interventions were executed after the baseline interview and repeated 6 and 12 months later. The effects of each type of intervention scheme on the incidence of infection were assessed by calculating relative risks and 95% confidence intervals using Poisson population-averaged regression models with robust variance. Among the 1105 participants, 408 (37%) were MST positive at baseline. Of the 697 negatives, only 423 (61%) were reexamined at the end of the follow-up; 151 (36%) of them converted to a positive MST. Only dog culling had some statistically significant effect on reducing the incidence of infection, with estimates of effectiveness varying between 27% and 52%, depending on the type of analysis performed. Conclusions/Significance: In light of the continuous spread of VL in Brazil despite the large scale deployment of insecticide spraying and dog culling, the relatively low to moderate effectiveness of dog culling and the non-significant effect of insecticide spraying on the incidence of human infection, we conclude that there is an urgent need for revision of the Brazilian VL control program

Algebraic structure of gravity in Ashtekar variables

The BRST transformations for gravity in Ashtekar variables are obtained by using the Maurer-Cartan horizontality conditions. The BRST cohomology in Ashtekar variables is calculated with the help of an operator $\delta$ introduced by S.P. Sorella, which allows to decompose the exterior derivative as a BRST commutator. This BRST cohomology leads to the differential invariants for four-dimensional manifolds.Comment: 19 pages, report REF. TUW 94-1