INSEF-ExpoQuim: assessing the exposure of the Portuguese population to chemicals

Introduction: Exposure to hazardous chemicals may endanger human health and pollute the environment. To assess and minimize the risks associated with the use of chemicals it is essential to know whether and to what extent these substances are present in the human body. We report preliminary results of the recruitment phase in the study of Exposure of the Portuguese Population to Environmental Chemicals: a study nested in INSEF 2015 (INSEF-ExpoQuim). Methods: INSEF-ExpoQuim is an epidemiologic study nested in INSEF 2015 targeting 300 non-institutionalized individuals aged 28-39 years, living in Portugal for more than 12 months, able to follow an interview in Portuguese. Fieldwork started in June 2019 and is ongoing. Procedures are according to the guidelines of the HBM4EU project. Selected individuals receive an invitation letter and are later contacted by phone to schedule sample collection and the telephone interview. Urine samples for determination of heavy metals, bisphenols and Polycyclic Aromatic Hydrocarbons are collected, as well as data on socio-demographic characteristics, living conditions and residential history, habits/lifestyle, nutrition, health, occupation and substance specific information covering nearly all exposure pathways. Results: Up to date 384 of the 848 eligible individuals were successfully contacted (45,3%), of which 172 accepted to participate in INSEF-ExpoQuim corresponding to a participation rate of 20%. Conclusions: Results from INSEF-ExpoQuim will contribute to reduce the health impact that could result from the exposure of the population residing in Portugal to environmental chemicals, by producing high quality data on the actual exposure of the Portuguese population to hazardous chemicals, in order to support the development and implementation of policy measures aimed at minimizing exposure to those chemicals.HBM4EU has received funding from the European Union’s Horizon 2020 research and innovation programme under grant agreement No 733032.N/

Prevalence, awareness and control of diabetes in Portugal: results from the first National Health Examination Survey (INSEF 2015)

A Diabetes Mellitus é uma grande ameaça para a saúde pública em todo o mundo, continuando a aumentar em prevalência e significado. As estimativas da sua prevalência, conhecimento e controlo são essenciais para monitorizar as suas tendências de forma efetiva. Neste contexto, foi realizado o primeiro Inquérito Nacional de Saúde com Exame Físico (INSEF) à população residente em Portugal, com idade compreendida entre os 25 e os 74 anos, em 2015. O INSEF consistiu num estudo transversal de prevalência, que incluía a medição do nível de HbA1c no sangue, um exame físico e uma entrevista geral de saúde. A prevalência geral de diabetes foi estimada em 9,9% (IC95%: 8,4; 11,5), sendo mais elevada nos homens do que nas mulheres (12,1% vs 7,8%). A diabetes era mais prevalente entre os indivíduos que apresentavam baixa escolaridade e sem atividade profissional. A maioria dos indivíduos diabéticos estava ciente de sua condição (87,1%) e encontrava-se a tomar medicação antidiabética (79,7%). Destes, 63,2% apresentaram níveis de HbA1c inferiores a 7,0%. A prevalência de diabetes permanece mais elevada do que as estimativas globais e europeias, embora haja maior conscientização e melhor controlo dos objetivos clínicos relacionados com esta doença crónica.Diabetes Mellitus is a major public health threat around the world, continuing to increase both in prevalence and significance. Estimates of its prevalence, knowledge and control are essential to monitor its trends ef fectively. In this contex t, the first National Health Examination Sur vey (INSEF) was per formed on the resident population in Por tugal aged between 25 and 74 years old, in 2015. The INSEF consisted of a crosssectional prevalence study, which included the measurement of the HbA1c level in the blood, a physical examination and a general health inter view. The overall prevalence of diabetes was estimated at 9.9% (95% CI: 8.4, 11.5), being higher in men than in women (12.1% vs 7.8%). Diabetes was more prevalent among individuals with low education level and without professional activit y. The majorit y of diabetic individuals were aware of their condition (87.1%) and were taking antidiabetic medication (79.7%). Of these, 63.2% had HbA1c levels lower than 7.0%. The prevalence of diabetes in Por tugal remains higher than the global and European estimates, although there is greater awareness and bet ter control of the clinical objectives related to this chronic disease.info:eu-repo/semantics/publishedVersio

design, planning and implementation

Background: In Health Examination Surveys interview information is complemented with objective information, providing more accurate indicators than self-reported data. We report the study design, planning and implementation of the first Portuguese Health Examination Survey (INSEF). Methods: INSEF was a cross-sectional population-based study representative at regional and national level. Individuals aged between 25 and 74 years old, residing in Portugal were selected from the national health users' registry through multi-stage stratified probabilistic sampling. Sample size was set at 4200 individuals. Data was collected in primary care units and included blood pressure, height, weight, hip and waist measurements, blood collection for lipid profile, HbA1c and blood count and a general health questionnaire. European HES procedures were followed. Results: A total of 4911 individuals agreed to participate (43.9% participation rate). Participation rate varied by region, sex and age group, being lower in Lisbon and Tagus Valley (32.8%), for men (41.8%) and for those aged 25-34 years old (36%). Conclusions: INSEF has set up an experienced national and regional structure for HES implementation. Nationally representative quality epidemiological data is now available for public health monitoring, planning and research.publishe

Arsenic exposure in the Portuguese population: INSEF-ExpoQuim preliminary results

O arsénio é um elemento naturalmente presente no meio ambiente e que também pode ser libertado em resultado de atividades antropogénicas, podendo encontrar-se na forma de compostos orgânicos ou inorgânicos. O arsénio é considerado pela Organização Mundial de Saúde como um dos dez químicos de maior preocupação para a saúde pública, uma vez que o arsénio e os compostos inorgânicos de arsénio estão classificados como cancerígenos pela Agência Internacional para a Investigação do Cancro. A exposição a arsénio inorgânico ocorre principalmente por via alimentar, através do consumo de água e de alimentos contaminados. Em Portugal são escassos os dados sobre a exposição a arsénio na população geral, pelo que o objetivo do presente estudo é a caracterização da exposição da população adulta portuguesa a arsénio, utilizando amostras de urina colhidas num estudo populacional nacional ( INSEF-ExpoQuim). O presente trabalho incluiu 171 participantes no estudo INSEF-ExpoQuim que forneceram uma amostra de urina para análise da concentração de arsénio total por espectrometria de massa com plasma indutivo acoplado ( ICP-MS ). Observou-se uma média geométrica de 47,1 μg As/L [ IC95%: 41,4-53,5 ] e 8,8% dos indivíduos apresentavam valores de arsénio considerados elevados. Não se observaram diferenças nos níveis de arsénio por sexo, grupo etário, grau de urbanização da área de residência, nível de escolaridade e situação face ao trabalho. Os resultados preliminares obtidos apontam para a necessidade de monitorização dos níveis de arsénio na população portuguesa.Arsenic is an element naturally present in the environment, but it can also be released as a result of anthropogenic activities. In the environment, arsenic can be found in the form of organic compounds and in the form of inorganic compounds. Arsenic is considered by the World Health Organization as one of the ten chemicals of greatest concern for public health, since arsenic and inorganic arsenic compounds are classified as carcinogenic by the International Agency for Research on Cancer. Exposure to inorganic arsenic occurs mainly through food, through consumption of contaminated water and food. In Portugal, data on arsenic exposure in the general population are scarce, so the aim of the present study was to characterize the exposure of the Portuguese adult population to arsenic, using urine samples collected in a national population study ( INSEF-ExpoQuim). The present work included 171 participants in the INSEF-ExpoQuim study who provided a urine sample for analysis of total arsenic concentration by inductively coupled plasma mass spectrometry (ICP-MS). A geometric mean of 47.1 μg As/L [ 95% CI: 41.4-53.5 ] was observed and 8.8% of the individuals had arsenic levels considered high. No differences were observed in arsenic levels by sex, age group, degree of urbanization of the area of residence, educational level and employment situation. The obtained preliminary results point to the need to monitor the levels of arsenic in the Portuguese population.O estudo INSEF-ExpoQuim foi cofinanciado no âmbito do projeto HBM4EU, que recebeu financiamento do programa de investigação e inovação Horizonte 2020 da União Europeia, ao abrigo da convenção de subvenção n.º 733032. O INSEF foi desenvolvido como parte integrante do projeto Improvement of epidemiological health information to support public health decision and management in Portugal Towards reduced inequalities, improved health, and bilateral cooperation, tendo beneficiado de um apoio financeiro de 1 500 000 euros concedido pela Islândia, Liechtenstein e Noruega, através das EEA Grants.info:eu-repo/semantics/publishedVersio

Experimental Study and Mathematical Modeling of the Processes Occurring in ZrN Coating/Silumin Substrate Systems under Pulsed Electron Beam Irradiation

This paper presents a study of a combined modification of silumin, which included deposition of a ZrN coating on a silumin substrate and subsequent treatment of the coating/substrate system with a submillisecond pulsed electron beam. The local temperature on the samples in the electron-beam-affected zone and the thickness of the melt zone were measured experimentally and calculated using a theoretical model. The Stefan problem was solved numerically for the fast heating of bare and ZrN-coated silumin under intense electron beam irradiation. Time variations of the temperature field, the position of the crystallization front, and the speed of the front movement have been calculated. It was found that when the coating thickness was increased from 0.5 to 2 [mu]m, the surface temperature of the samples increased from 760 to 1070 °C, the rise rate of the surface temperature increased from 6×107 to 9×107 K/s, and the melt depth was no more than 57 μm. The speed of the melt front during the pulse was 3×105 [mu]m/s. Good agreement was observed between the experimental and theoretical values of the temperature characteristics and melt zone thickness

Prevalência, conhecimento, tratamento e controlo da diabetes em Portugal: resultados do primeiro Inquérito Nacional de Saúde com Exame Físico (INSEF 2015)

A Diabetes Mellitus constitui uma forte ameaça à saúde pública em todo o mundo, dadas as graves consequências que podem decorrer da progressão da doença. Neste contexto, as estimativas da prevalência, conhecimento, tratamento e controlo da diabetes são essenciais para monitorizar efetivamente as suas tendências, planear e avaliar intervenções. O último estudo de base populacional com o objetivo de estimar a prevalência da diabetes em Portugal utilizando dados de exame físico foi realizado em 2009 (PREVADIAB) (1).O Inquérito Nacional de Saúde com Exame Físico 2013-2016 (INSEF) desenvolvido como parte integrante do projeto “Improvement of epidemiological health information to support public health decision and management in Portugal. Towards reduced inequalities, improved health, and bilateral cooperation” beneficiou de um apoio financeiro de 1.500.000€ concedido pela Islândia, Liechtenstein e Noruega, através das EEA GrantsN/

Hundreds of variants clustered in genomic loci and biological pathways affect human height

Most common human traits and diseases have a polygenic pattern of inheritance: DNA sequence variants at many genetic loci influence the phenotype. Genome-wide association (GWA) studies have identified more than 600 variants associated with human traits, but these typically explain small fractions of phenotypic variation, raising questions about the use of further studies. Here, using 183,727 individuals, we show that hundreds of genetic variants, in at least 180 loci, influence adult height, a highly heritable and classic polygenic trait. The large number of loci reveals patterns with important implications for genetic studies of common human diseases and traits. First, the 180 loci are not random, but instead are enriched for genes that are connected in biological pathways (P = 0.016) and that underlie skeletal growth defects (P < 0.001). Second, the likely causal gene is often located near the most strongly associated variant: in 13 of 21 loci containing a known skeletal growth gene, that gene was closest to the associated variant. Third, at least 19 loci have multiple independently associated variants, suggesting that allelic heterogeneity is a frequent feature of polygenic traits, that comprehensive explorations of already-discovered loci should discover additional variants and that an appreciable fraction of associated loci may have been identified. Fourth, associated variants are enriched for likely functional effects on genes, being over-represented among variants that alter amino-acid structure of proteins and expression levels of nearby genes. Our data explain approximately 10% of the phenotypic variation in height, and we estimate that unidentified common variants of similar effect sizes would increase this figure to approximately 16% of phenotypic variation (approximately 20% of heritable variation). Although additional approaches are needed to dissect the genetic architecture of polygenic human traits fully, our findings indicate that GWA studies can identify large numbers of loci that implicate biologically relevant genes and pathways.

AKT1 polymorphisms are associated with risk for metabolic syndrome

Converging lines of evidence suggest that AKT1 is a major mediator of the responses to insulin, insulin-like growth factor 1 (IGF1), and glucose. AKT1 also plays a key role in the regulation of both muscle cell hypertrophy and atrophy. We hypothesized that AKT1 variants may play a role in the endophenotypes that make up metabolic syndrome. We studied a 12-kb region including the first exon of the AKT1 gene for association with metabolic syndrome-related phenotypes in four study populations [FAMUSS cohort (n = 574; age 23.7 ± 5.7 years), Strong Heart Study (SHS) (n = 2,134; age 55.5 ± 7.9 years), Dynamics of Health, Aging and Body Composition (Health ABC) (n = 3,075; age 73.6 ± 2.9 years), and Studies of a Targeted Risk Reduction Intervention through Defined Exercise (STRRIDE) (n = 175; age 40–65 years)]. We identified a three SNP haplotype that we call H1, which represents the ancestral alleles at the three loci and H2, which represents the derived alleles at the three loci. In young adult European Americans (FAMUSS), H1 was associated with higher fasting glucose levels in females. In middle age Native Americans (SHS), H1 carriers showed higher fasting insulin and HOMA in males, and higher BMI in females. In older African-American and European American subjects (Health ABC) H1 carriers showed a higher incidence of metabolic syndrome. Homozygotes for the H1 haplotype showed about twice the risk of metabolic syndrome in both males and females (p < 0.001). In middle-aged European Americans with insulin resistance (STRRIDE) studied by intravenous glucose tolerance test (IVGTT), H1 carriers showed increased insulin resistance due to the Sg component (p = 0.021). The 12-kb haplotype is a risk factor for metabolic syndrome and insulin resistance that needs to be explored in further populations

Integration of genome-wide association studies with biological knowledge identifies six novel genes related to kidney function

In conducting genome-wide association studies (GWAS), analytical approaches leveraging biological information may further understanding of the pathophysiology of clinical traits. To discover novel associations with estimated glomerular filtration rate (eGFR), a measure of kidney function, we developed a strategy for integrating prior biological knowledge into the existing GWAS data for eGFR from the CKDGen Consortium. Our strategy focuses on single nucleotide polymorphism (SNPs) in genes that are connected by functional evidence, determined by literature mining and gene ontology (GO) hierarchies, to genes near previously validated eGFR associations. It then requires association thresholds consistent with multiple testing, and finally evaluates novel candidates by independent replication. Among the samples of European ancestry, we identified a genome-wide significant SNP in FBXL20 (P = 5.6 × 10−9) in meta-analysis of all available data, and additional SNPs at the INHBC, LRP2, PLEKHA1, SLC3A2 and SLC7A6 genes meeting multiple-testing corrected significance for replication and overall P-values of 4.5 × 10−4-2.2 × 10−7. Neither the novel PLEKHA1 nor FBXL20 associations, both further supported by association with eGFR among African Americans and with transcript abundance, would have been implicated by eGFR candidate gene approaches. LRP2, encoding the megalin receptor, was identified through connection with the previously known eGFR gene DAB2 and extends understanding of the megalin system in kidney function. These findings highlight integration of existing genome-wide association data with independent biological knowledge to uncover novel candidate eGFR associations, including candidates lacking known connections to kidney-specific pathways. The strategy may also be applicable to other clinical phenotypes, although more testing will be needed to assess its potential for discovery in genera