Isolating causality between gender and corruption: An IV approach

We address the persistent reverse causality problem in estimating the causal effect of female labor force participation (FLFP) on corruption. Employing plow usage as an instrumental variable, an increase in FLFP by one standard deviation is suggested to improve the Corruption Perceptions Index (CPI, ranging from zero to ten) by 0.52 points. This effect is stronger than a one standard deviation change of education levels, government size, or ethnic fractionalization

Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes

Penetrance of variants in monogenic disease and clinical utility of common polygenic variation has not been well explored on a large-scale. Here, the authors use exome sequencing data from 77,184 individuals to generate penetrance estimates and assess the utility of polygenic variation in risk prediction of monogenic variants

The Helicobacter pylori Genome Project : insights into H. pylori population structure from analysis of a worldwide collection of complete genomes

Helicobacter pylori, a dominant member of the gastric microbiota, shares co-evolutionary history with humans. This has led to the development of genetically distinct H. pylori subpopulations associated with the geographic origin of the host and with differential gastric disease risk. Here, we provide insights into H. pylori population structure as a part of the Helicobacter pylori Genome Project (HpGP), a multi-disciplinary initiative aimed at elucidating H. pylori pathogenesis and identifying new therapeutic targets. We collected 1011 well-characterized clinical strains from 50 countries and generated high-quality genome sequences. We analysed core genome diversity and population structure of the HpGP dataset and 255 worldwide reference genomes to outline the ancestral contribution to Eurasian, African, and American populations. We found evidence of substantial contribution of population hpNorthAsia and subpopulation hspUral in Northern European H. pylori. The genomes of H. pylori isolated from northern and southern Indigenous Americans differed in that bacteria isolated in northern Indigenous communities were more similar to North Asian H. pylori while the southern had higher relatedness to hpEastAsia. Notably, we also found a highly clonal yet geographically dispersed North American subpopulation, which is negative for the cag pathogenicity island, and present in 7% of sequenced US genomes. We expect the HpGP dataset and the corresponding strains to become a major asset for H. pylori genomics

Programa de Auditoría para el Mejoramiento de la Atención en Salud – PAMEC

El ministerio de la Protección Social, con el propósito de lograr estándares superiores de calidad que complemente los requisitos básicos para la prestación de servicios de salud implícitos en el Sistema Único de Habilitación, propone el Programa de Auditoria para el Mejoramiento de la Calidad (PAMEC) como herramienta indispensable para evaluar el desempeño de los procesos de las instituciones y encontrar oportunidades de mejora que faciliten trascender de los estándares mínimos de habilitación hacia los estándares superiores de Acreditación, que garanticen la seguridad en la prestación del servicio, satisfacción del usuario y su familia y el mejoramiento continuo de cada una de las instituciones

Ni adaptados, ni desadaptados... sólo jóvenes

En el actual contexto en que los jóvenes -especialmente de sectores populares- on fuertemente asociados a la drogadicción, a la delincuencia, al vandalismo, a diversas conductas de riesgo, son considerados un problema social, presentamos una muestra de experiencias desarrolladas con esos mismos jóvenes. Jóvenes pertenecientes al mundo popular, cuyas características más relevantes son sus ganas de expresarse y vivir su juventud "con todo", su alegría y su amor a la vida. Se trata de experiencias de apoyo al desarrollo juvenil que tienen en común la afirmación de la juventud entendida como una etapa de profundo significado en sí misma y que de debe vivirse hoy

Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes.

Hundreds of thousands of genetic variants have been reported to cause severe monogenic diseases, but the probability that a variant carrier develops the disease (termed penetrance) is unknown for virtually all of them. Additionally, the clinical utility of common polygenetic variation remains uncertain. Using exome sequencing from 77,184 adult individuals (38,618 multi-ancestral individuals from a type 2 diabetes case-control study and 38,566 participants from the UK Biobank, for whom genotype array data were also available), we apply clinical standard-of-care gene variant curation for eight monogenic metabolic conditions. Rare variants causing monogenic diabetes and dyslipidemias display effect sizes significantly larger than the top 1% of the corresponding polygenic scores. Nevertheless, penetrance estimates for monogenic variant carriers average 60% or lower for most conditions. We assess epidemiologic and genetic factors contributing to risk prediction in monogenic variant carriers, demonstrating that inclusion of polygenic variation significantly improves biomarker estimation for two monogenic dyslipidemias

Exome sequencing of 20,791 cases of type 2 diabetes and 24,440 controls.

Protein-coding genetic variants that strongly affect disease risk can yield relevant clues to disease pathogenesis. Here we report exome-sequencing analyses of 20,791 individuals with type 2 diabetes (T2D) and 24,440 non-diabetic control participants from 5 ancestries. We identify gene-level associations of rare variants (with minor allele frequencies of less than 0.5%) in 4 genes at exome-wide significance, including a series of more than 30 SLC30A8 alleles that conveys protection against T2D, and in 12 gene sets, including those corresponding to T2D drug targets (P = 6.1 × 10-3) and candidate genes from knockout mice (P = 5.2 × 10-3). Within our study, the strongest T2D gene-level signals for rare variants explain at most 25% of the heritability of the strongest common single-variant signals, and the gene-level effect sizes of the rare variants that we observed in established T2D drug targets will require 75,000-185,000 sequenced cases to achieve exome-wide significance. We propose a method to interpret these modest rare-variant associations and to incorporate these associations into future target or gene prioritization efforts