A Experiência da Emergência Pré-Hospitalar da Unidade de Socorro de Faro da Cruz Vermelha Portuguesa no apoio a grandes eventos

Relata-se a experiência da Unidade de Socorro da Delegação Distrital de Faro da Cruz Vermelha Portuguesa na organização e na montagem de um dispositivo médico e socorrista, para apoio aos participantes da Concentração de Motos de Faro, que decorre desde há longos anos em estreita colaboração com o Motoclube de Faro e as Unidades de Saúde da zona

Inquérito Europeu de Saúde com Exame Físico em Portugal: avaliação das fases de planeamento e implementação

O Instituto Nacional de Saúde Doutor Ricardo Jorge (INSA, IP) participou em 2010-2011 no projecto piloto EHES (European Health Examination Survey), co-financiado pela UE e coordenado pelo Instituto Finlandês de Saúde Pública (THL). A pertinência destes estudos reside na possibilidade de aliar a análise de diversas dimensões de saúde numa amostra populacional à máxima validade dos dados e informação obtidos, reconhecidamente superior à de estudos baseados em informação autodeclarada. O objetivo foi avaliar a capacidade dos 12 países participantes para construir e ensaiar uma infraestrutura capaz de implementar um futuro EHES harmonizado. A fase piloto (em Portugal, Inquérito de Saúde com Exame Físico - INSEF) visou explorar diferentes formas de implementação e demonstrar a sua exequibilidade Portugal.European Commission/DG Sanc

Prevalence of diabetes-associated gene variants and its association with blood glucose levels in the Algarve population, Portugal

The global rise in incidence of type 2 (T2D) has been called a pandemic, constituting a major public health concern. Although environmental factors play a substantial role in the etiology of T2D, genetic susceptibility has been established as a key component in T2D risk. Given the absence of studies regarding the prevalence of T2D associated variants in the Portuguese population, our aim was to determine the prevalence of disease-associated variants and determine its relative contribution to this phenotype. For this purpose, we have recruited 221 individuals (93 males and 128 females), between 26-91 years old (mean age 57.1), who were enrolled in the Health Centre of S. Brás de Alportel (Algarve). For each participant, we have measured total glucose levels and collected DNA. In addition, each participant has answered an exhaustive questionnaire including socio-demographic information, health history and lifestyle. We have selected and analysed three of the most significant loci previously reported to be associated with T2D in Caucasian populations (TCF7L2 rs7903146, PARPG rs1801282 and FTO rs9939609) and performed an association analysis between glucose levels in this population and the selected gene variants. The mean total population glucose level was 103.85±35.3 g/dl. We found a significant difference in the mean glucose levels between males (mean = 111.5±51.3 g/dl) and females (mean = 98.4±17.6 g/dl) (Mann-Whitney test P < 0.001). The relative allele frequencies of the genotyped variants have been established. Genotype distribution for all investigated SNPs was in Hardy-Weinberg equilibrium. We found a marginal association between glucose levels and genotypes at the TCF7L2 locus (Mann-Whitney test P = 0.045) in females but not in males, with carriers of the T allele displaying higher levels of blood glucose than homozygous for the A allele. This difference is also observed in males, although not reaching significance. No association was found between glucose levels and the other genotyped variants. These results suggest that the pathophysiology of the disease may be different between males and females, or that environmental factors are influencing this trait in males. We are currently investigating the later hypothesis by increasing our sample size and by analysing lifestyle information provided by the participants in order to evaluate gene-environment interactions influencing glucose levels in the Portuguese population.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)

Prevalence of alpha-1 antitrypsin deficiency and hereditary hemochromatosis gene mutations in Algarve, Portugal

Alpha-1 antitrypsin (AAT) deficiency and hereditary hemochromatosis (HH) are two of the most fatal genetic disorders in adult life, affecting million individuals worldwide. They are often under-diagnosed conditions and diagnosis is only made when the patient is already in the advanced stages of damage. AAT deficiency results from mutations in one highly pleiomorphic gene located on chromosome 14, SERPINA 1, being Z and S mutations the most relevant clinically. These mutations will lead to an AAT deficit that compromises the lungs protection, originating emphysema, chronic bronchitis, asthma or even chronic obstructive pulmonary disease (COPD) and it is also strongly associated with various liver diseases. On the other hand, C282Y and H63D mutations in the HFE gene, located on chromosome 6, are reported to be mostly responsible for the iron accumulation in HH disorder, leading to severe damage in different organs. Disease manifestations include cirrhosis, hepatic fibrosis, diabetes mellitus, arthropathy and hepatocarcinoma. Given the insufficient population-based information about the prevalence of these gene variants in the Portuguese population, the aim of this study was to assess their frequency in a representative sample from São Brás de Alportel, in the South of Portugal. To achieve our goal, we have genotyped a total of 208 adult subjects, including 118 females and 90 males (mean age: 58 years, range: 26-91). Regarding AAT deficiency, we found 4,3% MZ, 0,5% SS and 15,4% MS genotypes. The calculated frequency for the Z allele was 2,2% (95% CI: 0-11,7%) and for the S allele was 8,2% (95% CI: 0-17,4%). About HH, we found 1,4% C282Y/H63D, 2,4% H63D/H63D, 5,8% C282Y/N and 23,6% H63D/N genotypes. Frequencies of C282Y and H63D alleles were 3,6% (95% CI: 0-13%) and 14,9% (95% CI: 6-23,8%), respectively. The observed allele frequencies were in Hardy-Weinberg Equilibrium and no association was found with related diseases likely due to the smaller sample available. Our findings show the highest prevalence of Z allele from SERPINA1 gene found, when compared to other populations. The remaining findings are in agreement with previously published studies. Future studies involving a larger sample size will be necessary to evaluate the penetrance of the studied gene mutations and to assess gene-environment interactions that influence disease risk, contributing to reduce the burden of these diseases which can have a great public health impact.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)

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 epidemiological profile of the Isolation of 'Problem' microorganisms

INTRODUCTION: Infections are a major problem and the presence of drug-resistant microorganisms has significant clinical and economic impact. The present study aims to evaluate the epidemiological profile of "problem" microorganisms isolated in a hospital in the north of Portugal. MATERIAL AND METHODS: All isolated microorganisms were analyzed, between January 2014 and June 2015. Data obtained was then processed using statistical software. RESULTS: We analyzed 8146 microbiological isolations and found a prevalence of 23% of 'problem' microorganisms (in descending order of frequency: Enterococcus, Pseudomonas, Staphylococcus aureus e Streptococcus pneumonia), 57.55% of which isolated in male patients. The most frequent mechanism of drug resistance for the overall sample was the production of extended-spectrum beta-lactamase, and resistance to oxacillin for 'problem' microorganisms. DISCUSSION: In this sample, we observed a much higher prevalence of 'problem' microorganisms than that reported in other countries, which shows the need of improvement of surveillance mechanisms and treatment of these cases. Microorganisms that showed higher resistance were Staphylococcus aureus (resistant to oxacillin) and Enterococcus (resistant to vancomycin). Those were isolated in patients with a higher mean age compared to non-resistant microorganisms. Most of these microorganisms were isolated in hospitalized patients or intermediate and intensive care units, what relates them with healthcare associated infections. CONCLUSION: The prevalence of infection by 'problem' microorganisms during the studied period was 23%. The detection and control of the spread of these microorganisms are paramount due to its impact on health costs, morbidity and survival of patients.publishersversionpublishe

Genetic variation at the CYP2C19 gene associated with metabolic syndrome susceptibility in a South Portuguese population: results from the pilot study of the European Health Examination Survey in Portugal

BACKGROUND: Metabolic syndrome (MetS) is a cluster of conditions that occur together, increasing the risk of heart disease, stroke and diabetes. Since pathways implicated in different diseases reveal surprising insights into shared genetic bases underlying apparently unrelated traits, we hypothesize that there are common genetic components involved in the clustering of MetS traits. With the aim of identifying these common genetic components, we have performed a genetic association study by integrating MetS traits in a continuous MetS score. METHODS: A cross-sectional study developed in the context of the Portuguese Component of the European Health Examination Survey (EHES) was used. Data was collected through a detailed questionnaire and physical examination. Blood samples were collected and biochemical analyses were performed. Waist circumference, blood pressure, glucose, triglycerides and high density lipoprotein cholesterol (HDL) levels were used to compute a continuous MetS score, obtained by Principal Component Analysis. A total of 37 single nucleotide polymorphisms (SNPs) were genotyped and individually tested for association with the score, adjusting for confounding variables. RESULTS: A total of 206 individuals were studied. Calculated MetS score increased progressively with increasing number of risk factors (P < 0.001). We found a significant association between CYP2C19 rs4244285 and the MetS score not detected using the MetS dichotomic approach. Individuals with the A allelic variant seem to be protected against MetS, displaying a lower MetS score (Mean difference: 0.847; 95%CI: 0.163-1.531; P = 0.015), after adjustment for age, gender, smoking status, excessive alcohol consumption and physical inactivity. An additive genetic effect of GABRA2 rs279871, NPY rs16147 and TPMT rs1142345 in the MetS score variation was also found. CONCLUSIONS: This is the first report of a genetic association study using a continuous MetS score. The significant association found between the CYP2C19 polymorphism and the MetS score but not with the individual associated traits, emphasizes the importance of lipid metabolism in a MetS common etiological pathway and consequently on the clustering of different cardiovascular risk factors. Despite the sample size limitation of our study, this strategy can be useful to find genetic factors involved in the etiology of other disorders that are defined in a dichotomized way

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