Rocky Mountain Spotted Fever in Dogs, Brazil

Clinical illness caused by Rickettsia rickettsii in dogs has been reported solely in the United States. We report 2 natural clinical cases of Rocky Mountain spotted fever in dogs in Brazil. Each case was confirmed by seroconversion and molecular analysis and resolved after doxycycline therapy

A tradução jurídica: um caso específico

A evolução e a partilha de conhecimentos tiveram sempre por base a linguagem e esta foi, paralelamente, sendo (re)inventada, adaptada e complexificada para poder comportar os novos saberes e as suas relações com os conhecimentos pré-existentes. Da mesma maneira, a relação entre os seres humanos, na sua senda evolutiva e na aplicação do conhecimento, foi regulada e normalizada pela linguagem, primeiro oralmente e depois através da escrita. É sobre o uso específico da linguagem na sua função reguladora, e da ciência que lhe dá corpo – o Direito, que recairá a nossa atenção neste artigo. Naturalmente que nos dedicaremos apenas a uma ínfima faceta dessa grande e complexa ciência, centrando-se a nossa análise na transmissão dos seus saberes entre duas culturas diferentes, através do uso de uma outra ciência: a Tradução. O nosso objecto de trabalho será uma tradução de um texto jurídico de cariz doutrinário, da língua alemã para a portuguesa, elaborada pelo Dr. Raul Guichard, jurista e professor de Direito no ISCAP e na Universidade Católica, a partir de um texto original de Claus-Wilhelm Canaris. Porque a tradução é, quase sempre, um acto individual, decidimos entrevistar o autor da tradução, para conhecer com maior exactidão a metodologia que seguiu, a sua perspectiva sobre o acto tradutológico, as premissas de que partiu, os problemas com que se deparou na translação do texto e, finalmente, para retermos uma visão mais completa do texto e dos seus conteúdos. A nossa atenção não se centrará, por isso, numa análise de natur eza puramente linguística do texto nem numa análise do seu conteúdo jurídico. Iremos, primeiro, tentar determinar quais as características da linguagem jurídica enquanto língua de especialidade e, depois, procurar focar as propriedades do texto jurídico que, atendendo à sua tecnicidade e especificidade, devem ser consideradas aquando do processo de tradução. Para tal recorreremos à proposta metodológica de Cristiane Nord e à sua perspectiva da tradução como acto funcional e comunicativo, no sentido de analisar o texto, tendo sempre presente os resultados da entrevista ao tradutor. Não cabe neste artigo a elaboração de uma crítica à tradução em si, mas sim tentar apreender os caminhos que o tradutor percorreu desde o texto de partida ao texto de chegada

Whole-genome sequencing of 1,171 elderly admixed individuals from Brazil

As whole-genome sequencing (WGS) becomes the gold standard tool for studying population genomics and medical applications, data on diverse non-European and admixed individuals are still scarce. Here, we present a high-coverage WGS dataset of 1,171 highly admixed elderly Brazilians from a census-based cohort, providing over 76 million variants, of which ~2 million are absent from large public databases. WGS enables identification of ~2,000 previously undescribed mobile element insertions without previous description, nearly 5 Mb of genomic segments absent from the human genome reference, and over 140 alleles from HLA genes absent from public resources. We reclassify and curate pathogenicity assertions for nearly four hundred variants in genes associated with dominantly-inherited Mendelian disorders and calculate the incidence for selected recessive disorders, demonstrating the clinical usefulness of the present study. Finally, we observe that whole-genome and HLA imputation could be significantly improved compared to available datasets since rare variation represents the largest proportion of input from WGS. These results demonstrate that even smaller sample sizes of underrepresented populations bring relevant data for genomic studies, especially when exploring analyses allowed only by WGS

A genome-wide association study of asthma symptoms in Latin American children

Abstract\ud \ud Background\ud Asthma is a chronic disease of the airways and, despite the advances in the knowledge of associated genetic regions in recent years, their mechanisms have yet to be explored. Several genome-wide association studies have been carried out in recent years, but none of these have involved Latin American populations with a high level of miscegenation, as is seen in the Brazilian population.\ud \ud \ud Methods\ud 1246 children were recruited from a longitudinal cohort study in Salvador, Brazil. Asthma symptoms were identified in accordance with an International Study of Asthma and Allergies in Childhood (ISAAC) questionnaire. Following quality control, 1 877 526 autosomal SNPs were tested for association with childhood asthma symptoms by logistic regression using an additive genetic model. We complemented the analysis with an estimate of the phenotypic variance explained by common genetic variants. Replications were investigated in independent Mexican and US Latino samples.\ud \ud \ud Results\ud Two chromosomal regions reached genome-wide significance level for childhood asthma symptoms: the 14q11 region flanking the DAD1 and OXA1L genes (rs1999071, MAF 0.32, OR 1.78, 95 % CI 1.45–2.18, p-value 2.83 × 10−8) and 15q22 region flanking the FOXB1 gene (rs10519031, MAF 0.04, OR 3.0, 95 % CI 2.02–4.49, p-value 6.68 × 10−8 and rs8029377, MAF 0.03, OR 2.49, 95 % CI 1.76–3.53, p-value 2.45 × 10−7). eQTL analysis suggests that rs1999071 regulates the expression of OXA1L gene. However, the original findings were not replicated in the Mexican or US Latino samples.\ud \ud \ud Conclusions\ud We conclude that the 14q11 and 15q22 regions may be associated with asthma symptoms in childhood.This work was supported by the Department of Science and Technology\ud (DECIT, Ministry of Health), National Fund for Scientific and Technological\ud Development (FNDCT, Ministry of Science and Technology), Funding of\ud Studies and Projects (FINEP, Ministry of Science and Technology, Brazil), the\ud Brazilian National Research Council (CNPq) and the Wellcome Trust UK, Ref\ud 072405/Z/03/Z.\ud E.G.B. was funded by grants from National Institutes of Health (HL088133,\ud HL078885, HL004464, HL104608, HL117004, ES015794 and MD006902) and\ud by the American Asthma Foundation, the Sandler Foundation and the RWJF\ud Amos Medical Faculty Development Award.\ud Supported in part by the Intramural Research Program of the NIH, National\ud Institute of Environmental Health Sciences, USA