Genetic variation at the CY2C19 gene associated with Metabolic Syndrome susceptibility in a South Portuguese population

Metabolic syndrome (MetS) is a cluster of conditions — increased blood pressure, high blood glucose level, excess body fat around the waist and abnormal cholesterol levels — that occur together, increasing the risk of heart disease, stroke and diabetes. In Portugal, the MetS prevalence is estimated to be 27,5% with regional variations, being highest in the Alentejo (30,99%) and lowest in the Algarve (24,42%), constituting a public health problem. Although for clinical settings, a binary definition of MetS enabling a yes or no diagnosis is useful, it is clear that dichotomizing a continuous outcome variable reduces the statistical power of the MetS association studies. Therefore, the aim of the present study is to identify genetic risk factors involved in MetS etiology, using a continuous MetS score. To achieve our goal, a principal component analysis was performed to compute a score using the six normalized risk factors for MetS (waist circumference, diastolic and systolic blood pressure, glucose, triglycerides and HDL blood levels), with a higher MetS score indicating a less favorable MetS profile. After calculating this score, an association study was performed using 37 SNPs in candidate genes involved in MetS related diseases. A total of 206 subjects, including 119 women and 87 men (mean age: 56,31± 16,37 years, range: 26-91 years) were included in this analysis. We found 4 SNPs significantly associated with higher MetS scores (rs4244285 (CYP2C19), rs279871 (GABRA2), rs1647 (NPY) and rs1142345(TPMT)). P-values are 4,36x10-4, 1,3x10-2, 1,7x10-2 and 9,76x10-3 respectively. After correcting for multiple testing only rs4244285 (CYP2C19) remains significant (p=0,016). In addition, we have performed a multiple regression analysis considering the CYP2C19 genotype as the independent variable, adjusted for age. The resulting model explains 17% of the MetS score variance. After adding the remaining SNP genotypes that do not survive the multiple testing correction, the same model is able to explain 23,1% of the score. Our findings support the evidence of an association between CYP2C19 rs4244285 gene polymorphism and the MetS score, emphasizing the importance of lipid metabolism, thought cytochrome P450 enzymes, in the MetS etiology. However, further studies will be necessary to replicate these findings in different populations as well as functional studies to clarify the role of this variant in the etiology of MetS.The pilot study of the Portuguese Component of the European Health Examination Survey (EHES) project has received funding from the European Commission/DG Sanco (Agreement number: 20092301 – EHES JA – EAHC). This study has also received funding from the Portuguese Foundation for Science and Technology (FCT) (Project Reference: PTDC/SAU-ESA/101743/2008)

The LHCb upgrade I

The LHCb upgrade represents a major change of the experiment. The detectors have been almost completely renewed to allow running at an instantaneous luminosity five times larger than that of the previous running periods. Readout of all detectors into an all-software trigger is central to the new design, facilitating the reconstruction of events at the maximum LHC interaction rate, and their selection in real time. The experiment's tracking system has been completely upgraded with a new pixel vertex detector, a silicon tracker upstream of the dipole magnet and three scintillating fibre tracking stations downstream of the magnet. The whole photon detection system of the RICH detectors has been renewed and the readout electronics of the calorimeter and muon systems have been fully overhauled. The first stage of the all-software trigger is implemented on a GPU farm. The output of the trigger provides a combination of totally reconstructed physics objects, such as tracks and vertices, ready for final analysis, and of entire events which need further offline reprocessing. This scheme required a complete revision of the computing model and rewriting of the experiment's software

Poison to pest: An approach from cognitive anthropology on occupational exposure, health effects and quality of life of pesticide applicators rural informal sector [Veneno para plagas: Una aproximaci�n desde la antropolog�a cognitiva sobre exposici�n laboral, efectos en salud y calidad de vida de los aplicadores de plaguicidas del sector informal rural]

Objective: To explore the cultural dimensions of the concept of exposure to pesticides, health, impact on health and quality of life in rural pesticide applicators in the informal sector. Materials and methods: An exploratory study was conducted in six Atlantic's municipalities. Forty four subjects were selected during 2010 and 2011. It worked qualitative technique: free list. It was investigated terms associated with the concepts of pesticide, health effect, health status and quality of life. Consensus analysis was applied visual techniques, factorization and principal component analysis with ANTHROPAC dimensional v4.0 program was performed. Results: Health is related to be healthy and stay alive. They don't identify side effects. The concept of quality of life was related to have health, family and job. There was no cultural consensus about health, and the relative does not think anything about the pesticide or � spray is normal�. Cultural consensus exists against: pesticide exposure and toxicity of some of them. The pesticide protects crops from pests but also kills other animals that help the biological control. There are cultural consensus in the previous practice of consumption of milk and sugar cane before spraying. Conclusion: The study of the meanings, believes, values and practices from pesticide applicators informal workers in rural areas, have a very different approach to formal workers with the same trade. Believes and values were observed to be considered when making occupational health policies

Poison to pest: An approach from cognitive anthropology on occupational exposure, health effects and quality of life of pesticide applicators rural informal sector [Veneno para plagas: Una aproximación desde la antropología cognitiva sobre exposición laboral, efectos en salud y calidad de vida de los aplicadores de plaguicidas del sector informal rural]

Objective: To explore the cultural dimensions of the concept of exposure to pesticides, health, impact on health and quality of life in rural pesticide applicators in the informal sector. Materials and methods: An exploratory study was conducted in six Atlantic's municipalities. Forty four subjects were selected during 2010 and 2011. It worked qualitative technique: free list. It was investigated terms associated with the concepts of pesticide, health effect, health status and quality of life. Consensus analysis was applied visual techniques, factorization and principal component analysis with ANTHROPAC dimensional v4.0 program was performed. Results: Health is related to be healthy and stay alive. They don't identify side effects. The concept of quality of life was related to have health, family and job. There was no cultural consensus about health, and the relative does not think anything about the pesticide or « spray is normal». Cultural consensus exists against: pesticide exposure and toxicity of some of them. The pesticide protects crops from pests but also kills other animals that help the biological control. There are cultural consensus in the previous practice of consumption of milk and sugar cane before spraying. Conclusion: The study of the meanings, believes, values and practices from pesticide applicators informal workers in rural areas, have a very different approach to formal workers with the same trade. Believes and values were observed to be considered when making occupational health policies

Desarollo de comunidades virtuales em Latinoamérica

En la presente comunicación se realiza un estudio sobre la influencia del desarrollo socioeconómico en la conectividad a internet en Latinoamérica. También se analiza la frecuencia de la conectividad a internet y uso las redes sociales virtuales en los países de estudio. Se recurre a una metodología cuantitativa para establecer el perfil de usuarios entre los países seleccionados, mediante el uso de los datos contenidos en la encuesta internacional Latino barómetro (2013 y 2016). Además, se utilizan los datos proporcionados por el Banco Mundial (2016) para analizar la influencia del desarrollo económico y la conectividad. Las técnicas estadísticas empleadas son el análisis de frecuencia y el análisis bivariable. Como resultado principal se muestra una relación positiva entre el desarrollo socioeconómico y el grado de conectividad a internet. A su vez también se registra una gran similitud entre el uso de las diferentes redes sociales virtuales en los distintos países de estudio

Pharmacogenetic Profile of a South Portuguese Population: Results from the Pilot Study of the European Health Examination Survey in Portugal

Background: The genetic inter-individual variability of drug response can lead to therapeutic failure or adverse drug reactions (ADRs). The aims of this study were to assess the pharmacogenetic profile of a South Portuguese population according to established dosing guidelines for commonly prescribed drugs and to compare it with that of previously genotyped populations. Methods: A cross-sectional study was developed in the context of the Portuguese Component of the European Health Examination Survey (EHES). A total of 47 pharmacogenetically relevant variants in 23 different genes were genotyped in 208 participants. Allelic and genotypic frequencies were calculated, and the pharmacogenetic profile of the participants was defined. A comparative analysis was conducted through electronic database search. Pairwise Fst calculations were performed to assess the genetic distance between populations. Results: We found a significant small differentiation between the Portuguese regional populations regarding CYP2C9 rs1057910, CYP2D6 rs3892097, MTHFR rs1801133 and F5 rs6025. When consid-ering 4 HapMap populations, ADH1B rs2066702, ADH1B rs1229984, NAT2 rs1799931 and VKORC1 rs9923231 displayed a significant population differentiation. We found that 18.9% of the participants are intermediate or poor metabolizers for at least 3 drugs simultaneously and that 84.6% of the participants have at least one therapeutic failure or ADR risk allele for the considered drugs. Conclusions: There is a high prevalence of risk alleles associated with an altered drug metabolism regarding drugs largely used by the South Portuguese population. This knowledge contributes to the prediction of their clinical efficacy and/or toxicity, optimizing therapeutic response while improving cost-effectiveness.The pilot study of the Portuguese Component of the European Health Examination Survey (EHES) project has received funding from the European Commission/DG Sanco (agreement No.: 20092301-EHES JA-EAHC). This study has also received funding from the Portuguese Foundation for Science and Technology (FCT) (project reference: PTDC/SAU-ESA/101743/2008)

Perfil farmacogenético da população do Algarve: resultados do estudo piloto do Inquérito Europeu de Saúde com Exame Físico

Prémio de melhor comunicação oral do IV Congresso Nacional de Saúde PúblicaIntrodução: As falhas terapêuticas e reações adversas a medicamentos (RAM) representam um problema de saúde pública, sendo parcialmente determinadas pela variabilidade genética individual. Torna-se assim fundamental conhecer o perfil farmacogenético da população para adequar a terapêutica a cada paciente e minimizar as RAM. O objetivo deste estudo consistiu em determinar o perfil farmacogenético da população do Algarve, comparando-o com outras populações. Métodos: Um estudo transversal foi desenvolvido no contexto do estudo piloto do Inquérito Europeu de Saúde com Exame Físico. O perfil farmacogenético foi definido para um total de 208 participantes em relação a sete classes de medicamentos (tiopurinas, clopidogrel, varfarina, fluoropirimidinas, irinotecano, codeína e antidepressivos tricíclicos) utilizando informação sobre 47 variantes genéticas em genes envolvidos na sua metabolização. Foi realizada uma análise Pairwise Fst para avaliar a distância genética entre populações e comparação com estudos prévios. Resultados: Verificámos que 84.6% possui pelo menos um alelo de risco para desenvolver falha terapêutica ou RAM e 18.9% dos participantes são metabolizadores intermédios ou deficientes para pelo menos 3 medicamentos em simultâneo, relativamente aos medicamentos considerados. Foram detetadas 4 variantes com grande diferenciação entre as populações. Conclusões: As variantes genéticas que conferem risco de desenvolver RAM ou falha terapêutica apresentam uma frequência elevada na população do Algarve. Visto que os medicamentos analisados são os mais frequentemente prescritos em Portugal, a determinação prévia do perfil farmacogenético do indivíduo, será importante para conseguir evitar a falha terapêutica e/ou RAM, o que terá benefícios ao nível da saúde pública para além de consideráveis impactos económicos