Brazilian Network for HIV Drug Resistance Surveillance: a survey of individuals recently diagnosed with HIV

Use of antiretrovirals is widespread in Brazil, where more than 200,000 individuals are under treatment. Although general prevalence of primary antiretroviral resistance in Brazil is low, systematic sampling in large metropolitan areas has not being performed

Polymorphism of the ACE Gene is Associated with Extent and Severity of Coronary Disease

Introdução: Os doentes com doença das artérias coronárias (DAC) apresentam extensão da doença e evolução muito variáveis, que muito vezes nos escapam e que ultrapassam os factores de risco tradicionais. As diferenças poderão, pelo menos em parte, ser explicáveis por polimorfismos genéticos menos favoráveis que lhe estejam associados. Os polimorfismos do gene da ECA têm sido profusamente avaliados, embora se desconheça a ligação entre estes polimorfismos e a extensão da DAC. Objectivo: Os autores pretendem avaliar se os polimorfismos do gene da enzima de conver são da Angiotensina I (ECA) constituem um marcador da extensão e gravidade da DAC. Métodos: Estudo descritivo, em 296 doentes com história de enfarte do miocárdio ou doença coronária confirmada por coronariografia, com pelo menos 75 % de obstrução de um dos vasos coronários. A quantificação da gravidade e extensão, foi feita segundo o score de Leaman, de acordo com o número de artérias com redução do diâmetro superior a 75 %, e com o número de segmentos coronários afectados. Os genotipos do ECA, foram tipados por amplificação por PCR e os produtos de amplificação separados por electroforese em gel de poliacrilamida. Calculou-se a média e desvio padrão dos scores coronários dos três polimorfismos e os valores foram comparados estatisticamente recorrendo ao teste T de Student para amostras independentes. Resultados e Conclusão: O genotipo DD aparece neste estudo claramente ligado à extensão da DAC, com um alto grau de significância. A confirmar-se este conceito, poderá justificar-se fazer uma prevenção secundária particularmente cuidadosa nos doentes vasculares portadores deste genotipo.Background: The progression and extent of coronary heart disease (CHD) are extremely variable and in many instances independent of conventional risk factors. The differences may be partly explained by less favorable genetic polymorphisms that are associated with them. The polymorphisms of the angiotensin I converting enzyme (ACE) gene have been thoroughly evaluated, but the connection between them and the extent of CHD is unknown. Aims: Our study is aimed at determining whether any or all of the polymorphisms of the ACE gene are markers of the extent and severity of CHD. Methods: This was a descriptive study of 296 patients with a history of myocardial infarction or with coronary disease confirmed by coronary angiography. The severity of CHD was quantified according to Leaman’s score (based on the number of arteries with more than 75 % reduction in diameter and the number of affected coronary segments). The ACE genotypes were determined by specific polymerase chain reaction amplification and the segments were subjected to polyacrylamide gel electrophoresis. The mean coronary score and standard deviation of the three polymorphisms were calculated and the values statistically compared using the Student’s t test for independent samples. Results: 296 patients with a mean age of 5510.3 years, 234 male, were evaluated. Conclusion: The study clearly shows that the DD genotype is linked to the extent of CHD, with a high level of significance. If this is confirmed, careful secondary prevention is indicated in patients with this genotype.info:eu-repo/semantics/publishedVersio

Angiotensin Converting Enzyme Gene Polymorphisms and Coronary Risk in a Portuguese Population

Introdução: A história familiar de doença das artérias coronárias (DAC) constitui um poderoso marcador de risco de DAC, independente dos factores de risco tradicionais. Poderá ser descodificado reconhecendo os polimorfismos associados ao aumento de risco. Têm surgido resultados contraditórios em relação à ligação entre os polimorfismos do gene da enzima de conver são da angiotensina (ECA) e o risco de DAC. Objectivo: Com o presente trabalho pretendemos avaliar se os polimorfismos do gene da ECA constituem factor de risco de doença das artérias coronárias. Métodos: Estudo caso-controlo, incluindo 517 controlos escolhidos aleatoriamente dos cadernos eleitorais, sem história sugestiva de DAC e 301 doentes com história de enfarte agudo do miocárdio ou doença coronária confirmada por coronariografia, com pelo menos 75 % de obstrução de um dos vasos coronários. Tentou-se que os casos e controlos não fossem significativamente diferentes em termos de sexo e idade. Os polimorfismos dialélicos do gene da ECA foram tipados por amplificação por PCR. Os produtos de amplificação eram identificados em gel de poliacrilamida, por electroforese. Os dados foram avaliados recorrendo ao SPSS for Windows,Background: A family history of coronary heart disease (CHD) is a strong risk marker for the disease, independently of classical risk factors. It could be decoded by recognizing the polymorphisms associated with increased risk. Renin-angiotensin system genes are candidate genes in CHD and the deletion allele of the angiotensin converting enzyme (ACE) has been reported as deleterious. However, there is disagreement as to the role of the insertion/deletion polymorphism of the ACE gene in coronary risk. Aim: To evaluate whether ACE gene polymorphisms constitute a CHD risk factor. Methods: We conducted a population-based case-control study of 301 subjects with a history of myocardial infarction or angiographic evidence of coronary heart disease and 510 age- and gender-matched controls, without CHD, living in a region with high CHD mortality rates. Blood samples were taken, DNA extracted and genotypes determined by the polymerase chain reaction (PCR). Amplification products were identified by agarose gel electrophoresis.info:eu-repo/semantics/publishedVersio

Exclusion of mutations in the PRNP, JPH3, TBP, ATN1, CREBBP, POU3F2 and FTL genes as a cause of disease in Portuguese patients with a Huntington-like phenotype

Huntington disease (HD) is an autosomal dominant neurodegenerative disorder characterised by chorea, cognitive impairment, dementia and personality changes, caused by the expansion of a CAG repeat in the HD gene. Often, patients with a similar clinical presentation do not carry expansions of the CAG repeat in this gene [Huntington disease-like (HDL) patients]. We report the genetic analysis of 107 Portuguese patients with an HDL phenotype. The HDL genes PRNP and JPH3, encoding the prion protein and junctophilin-3, respectively, were screened for repeat expansions in these patients. Given the partial clinical overlap of SCA17, DRPLA and neuroferritinopathy with HD, their causative genes (TBP, ATN1, and FTL, respectively) were also analysed. Finally, repeat expansions in two candidate genes, CREBBP and POU3F2, which encode the nuclear transcriptional coactivator CREB-binding protein and the CNS-specific transcription factor N-Oct-3, respectively, were also studied. Expansions of the repetitive tracts of the PRNP, JPH3, TBP, ATN1, CREBBP and POU3F2 genes were excluded in all patients, as were sequence alterations in the FTL gene. Since none of the genes already included in the differential diagnosis of HD was responsible for the disease in our sample, the genetic heterogeneity of the HDL phenotype is still open for investigation.Fundação para a Ciência e a Tecnologia (FCT) and FEDER (grant CBO/33485/99). BIC included in grant CBO/33485/99, respectivel

A comprehensive assessment of the transcriptome of cork oak (Quercus suber) through EST sequencing

Background: Cork oak (Quercus suber) is one of the rare trees with the ability to produce cork, a material widely used to make wine bottle stoppers, flooring and insulation materials, among many other uses. The molecular mechanisms of cork formation are still poorly understood, in great part due to the difficulty in studying a species with a long life-cycle and for which there is scarce molecular/genomic information. Cork oak forests are of great ecological importance and represent a major economic and social resource in Southern Europe and Northern Africa. However, global warming is threatening the cork oak forests by imposing thermal, hydric and many types of novel biotic stresses. Despite the economic and social value of the Q. suber species, few genomic resources have been developed, useful for biotechnological applications and improved forest management. Results: We generated in excess of 7 million sequence reads, by pyrosequencing 21 normalized cDNA libraries derived from multiple Q. suber tissues and organs, developmental stages and physiological conditions. We deployed a stringent sequence processing and assembly pipeline that resulted in the identification of ~159,000 unigenes. These were annotated according to their similarity to known plant genes, to known Interpro domains, GO classes and E.C. numbers. The phylogenetic extent of this ESTs set was investigated, and we found that cork oak revealed a significant new gene space that is not covered by other model species or EST sequencing projects. The raw data, as well as the full annotated assembly, are now available to the community in a dedicated web portal at http://www.corkoakdb.org. Conclusions: This genomic resource represents the first trancriptome study in a cork producing species. It can be explored to develop new tools and approaches to understand stress responses and developmental processes in forest trees, as well as the molecular cascades underlying cork differentiation and disease response.Peer Reviewe

“Se viveres como louco, sabes que hás de morrer sem juízo”: as orientações para o bem morrer na literatura cristã portuguesa do século XVIII

Resumo Orientar os fiéis para uma vida santificada e instruí-los para uma boa morte foram objetivos muito comuns na literatura religiosa portuguesa do período moderno, especialmente aquela divulgada no século XVIII e que se propunha a definir e propagar virtudes morais e comportamentos que garantissem o bem morrer. Nosso objetivo, neste artigo, é o de analisar as orientações que todo fiel católico deveria observar como preparação prévia para a morte nas obras Sermão da Missão da quarta tarde da quaresma (1734), Terceiro Instruído na Virtude (1742) e Mestre da Virtude(1745), produzidas pelo padre dominicano português João Franc