Molecular and functional characterization of polymorphisms in the secreted phospholipase A2 group X gene: relevance to coronary artery disease

Among secreted phospholipases A2 (sPLA2s), human group X sPLA2 (hGX sPLA2) is emerging as a novel attractive therapeutic target due to its implication in inflammatory diseases. To elucidate whether hGX sPLA2 plays a causative role in coronary artery disease (CAD), we screened the human PLA2G10 gene to identify polymorphisms and possible associations with CAD end-points in a prospective study, AtheroGene. We identified eight polymorphisms, among which, one non-synonymous polymorphism R38C in the propeptide region of the sPLA2. The T-512C polymorphism located in the 5′ untranslated region was associated with a decreased risk of recurrent cardiovascular events during follow-up. The functional analysis of the R38C polymorphism showed that it leads to a profound change in expression and activity of hGX sPLA2, although there was no detectable impact on CAD risk. Due to the potential role of hGX sPLA2 in inflammatory processes, these polymorphisms should be investigated in other inflammatory diseases

The genetic and molecular architecture of phenotypic diversity in sticklebacks

A major goal of evolutionary biology is to identify the genotypes and phenotypes that underlie adaptation to divergent environments. Stickleback fish, including the threespine stickleback (Gasterosteus aculeatus) and the ninespine stickleback (Pungitius pungitius), have been at the forefront of research to uncover the genetic and molecular architecture that underlies phenotypic diversity and adaptation. A wealth of quantitative trait locus (QTL) mapping studies in sticklebacks have provided insight into longstanding questions about the distribution of effect sizes during adaptation as well as the role of genetic linkage in facilitating adaptation. These QTL mapping studies have also provided a basis for the identification of the genes that underlie phenotypic diversity. These data have revealed that mutations in regulatory elements play an important role in the evolution of phenotypic diversity in sticklebacks. Genetic and molecular studies in sticklebacks have also led to new insights on the genetic basis of repeated evolution and suggest that the same loci are involved about half of the time when the same phenotypes evolve independently. When the same locus is involved, selection on standing variation and repeated mutation of the same genes have both contributed to the evolution of similar phenotypes in independent populations. This article is part of the themed issue ‘Evo-devo in the genomics era, and the origins of morphological diversity’

OCORRÊNCIAS IATROGÊNICAS NA UTI E O ENFOQUE DE QUALIDADE OCURRENCIAS IATROGÉNICAS Y EL ENFOQUE DE CALIDAD IATROGENIC OCCURRENCES AND THE QUALITY FOCUS

Considerando as ocorrências iatrogênicas na UTI como eventos que interferem na qualidade da assistência ao doente crítico, a autora contextualiza tais ocorrências, tendo como fundamento teórico os princípios da Gestão de Qualidade Total.<br>Considerando las ocurrencias adversas en la Unidad de Cuidado Intensivo (UCI) como eventos que interfieren en la calidad de la atención al paciente crítico, la autora contextualiza esas ocurrencias, utilizando como fundamentación los principios de la Gestión de Calidad Total.<br>Regarding iatrogenic occurrences in ICUs as events that interfere with the quality of the care given to critical patients, the author contextualizes such occurrences by taking into account the principles of Total Quality Management as a theoretical framework