Comparative Effectiveness of COVID-19 Vaccines in Preventing Infections and Disease Progression from SARS-CoV-2 Omicron BA.5 and BA.2, Portugal.

We estimated comparative primary and booster vaccine effectiveness (VE) of SARS-CoV-2 Omicron BA.5 and BA.2 lineages against infection and disease progression. During April-June 2022, we implemented a case-case and cohort study and classified lineages using whole-genome sequencing or spike gene target failure. For the case-case study, we estimated the adjusted odds ratios (aORs) of vaccination using a logistic regression. For the cohort study, we estimated VE against disease progression using a penalized logistic regression. We observed no reduced VE for primary (aOR 1.07 [95% CI 0.93-1.23]) or booster (aOR 0.96 [95% CI 0.84-1.09]) vaccination against BA.5 infection. Among BA.5 case-patients, booster VE against progression to hospitalization was lower than that among BA.2 case-patients (VE 77% [95% CI 49%-90%] vs. VE 93% [95% CI 86%-97%]). Although booster vaccination is less effective against BA.5 than against BA.2, it offers substantial protection against progression from BA.5 infection to severe disease.

Longitudinal association between grip strength and the risk of heart diseases among European middle-aged and older adults.

BACKGROUND: Few multi-country European studies have investigated the association between grip strength and heart diseases incidence. Thus, the aim of this study is to analyse the longitudinal relationship between grip strength and the diagnosis of heart diseases in European middle-aged and older adults. METHOD: A prospective cohort study was conducted using data from the Survey of Health, Aging and Retirement in Europe (2004-2017). Participants were 20,829 middle-aged and older adults from 12 countries. GS was objectively measured by a dynamometer and heart diseases diagnosis was self-reported. Incidence rate of heart diseases was calculated and a Cox proportional hazard regression was performed. RESULTS: The heart diseases incidence rate decreased from 930 per 100,000 person-years in the lowest quartile to 380 per 100,000 person-years in the highest grip strength quartile. During the 13 years of follow-up, compared to being in the lowest grip strength quartile, being in the highest quartile decreased the hazard of being diagnosed with a heart disease in 36 % (95 % confidence interval [CI]: 0.53, 0.78) for the whole sample, 35 % (95 % CI: 0.51, 0.84) for men and 46 % (95 % CI: 0.40, 0.73) for women. CONCLUSIONS: Grip strength seems to be inversely associated with the incidence of heart diseases among European middle-aged and older adults. Scientific evidence has highlighted the potential role of grip strength as a risk stratifying measure for heart diseases, suggesting its potential to be included in the cardiovascular risk scores used in primary care. However, further research is still needed to clarify it.

COVID-19 mRNA vaccine effectiveness (second and first booster dose) against hospitalisation and death during Omicron BA.5 circulation: cohort study based on electronic health records, Portugal, May to July 2022.

We measured vaccine effectiveness (VE) against COVID-19-related severe outcomes in elderly people in Portugal between May and July 2022. In ≥ 80 year-olds, the second booster dose VE was 81% (95% CI: 75-85) and 82% (95% CI: 77-85), respectively, against COVID-19-related hospitalisation and death. The first booster dose VE was 63% (95% CI: 55-70) in ≥ 80 year-olds and 74% (95% CI: 66-80) in 60-79 year-olds against hospitalisation, and 63% (95% CI: 57-69) and 65% (95% CI: 54-74) against death.

Local problem solving in the Portuguese health examination survey: a mixed method study.

BACKGROUND: Participation rates in health surveys, recognized as an important quality dimension, have been declining over the years, which may affect representativeness and confidence in results. The Portuguese national health examination survey INSEF (2015) achieved a participation rate of 43.9%, which is in line with participation rates from other similar health examination surveys. The objective of this article is to describe how local teams of survey personnel conducted the survey, describing strategies used to solve practical survey problems and to try to increase the participation rate. METHODS: After a literature search, informal interviews were conducted with 14 public health officials from local health examination teams, regional and central authorities. Forty-one of the local staff members (survey personnel) also filled in a short questionnaire anonymously. The interviews and self-administered questionnaires were analysed using mixed methods, informed by thematic analysis. RESULTS: The local teams believed that the detailed manual, described as a "cookbook for making a health examination survey", made it possible to maintain high scientific standards while allowing for improvising solutions to problems in the local context. The quality of the manual, supported by a series of training workshops with the central research and support team, gave the teams the confidence and knowledge to implement local solutions. Motivation and cohesion within the local teams were among the goals of the training process. Local teams felt empowered by being given large responsibilities and worked hard to incite people to attend the examination through a close and persuasive approach. Local teams praised their INSA contacts for being available for assistance throughout the survey, and said they were inspired to try harder to reach participants to please their contacts for interpersonal reasons. CONCLUSIONS: The theory of organizational improvisation or bricolage, which means using limited resources to solve problems, was useful to discuss and understand what took place during INSEF. A detailed manual covering standard procedures, continuous monitoring of the data collection and face-to-face workshops, including role-play, were vital to assure high scientific standards and high participation rates in this health examination survey. Close contacts between the central team and local focal points in all regions and all survey sites were key to accommodating unexpected challenges and innovative solutions.

PM10 exposure interacts with abdominal obesity to increase blood triglycerides: a cross-sectional linkage study.

BACKGROUND: Blood lipids and glucose levels dysregulation represent potential mechanisms intermediating the adverse cardiovascular effects of ambient particulate matter (PM) exposure. This study aims to estimate the effect of long-term PM10 exposure on blood lipids and glucose levels and to assess the potential mediation and/or modification action of abdominal obesity (AO) (waist-to-height ratio). METHODS: Our study was based on 2,390 participants of the first Portuguese Health Examination Survey (INSEF, 2015) with available data on blood lipids and glucose parameters and living within a 30-km radius of an air quality monitoring station with available PM10 measurements. PM10 concentrations were acquired from the air quality monitoring network of the Portuguese Environment Agency. Generalized linear models were used to assess the effect of 1-year PM10 exposure on blood lipids and glucose levels. An interaction term was introduced in the models to test the modification action of AO. RESULTS: We found an association between PM10 and non-fasting blood triglycerides (TG) after adjustment for age, sex, education, occupation, lifestyles-related variables and temperature but only in participants with AO. Per each 1 µg/m3 PM10 increment, there was a 1.84% (95% confidence interval: 0.02-3.69) increase in TG. For the remaining blood lipid and glucose parameters, no associations were found. CONCLUSIONS: Our study demonstrates that even at low levels of exposure, long-term PM10 exposure interacts with AO to increase blood TG. Our findings suggest that reducing both AO prevalence and PM10 below current standards would result in additional health benefits for the population.

Estimation of the 10-Year Risk of Fatal Cardiovascular Disease in the Portuguese Population: Results from the First Portuguese Health Examination Survey (INSEF 2015).

INTRODUCTION: Cardiovascular disease is the leading cause of morbidity and mortality in Portugal and globally. Cardiovascular risk algorithms, namely the SCORE (Systematic Coronary Risk Evaluation), are recommended in the context of cardiovascular disease prevention. Our aim is to estimate and characterize the cardiovascular risk of the Portuguese population aged between 40 and 65 years old, in 2015, using the SCORE algorithm. MATERIAL AND METHODS: This study was performed on a subsample of the first Portuguese National Health Examination Survey - INSEF, including all participants between 40 and 65 years old with available data on sex, age, smoking status, total cholesterol and systolic blood pressure (n = 2945). The prevalence of the cardiovascular risk categories were stratified by sex, age group, marital status, educational level, occupational activity, urbanization of living area, region and income. RESULTS: In 2015, about 5.1% and 11.9% of the Portuguese resident population aged between 40 and 65 years old were, respectively, at high and very high risk of having a fatal CV event in the following 10 years. The highest prevalence of very high cardiovascular risk was found in males, individuals aged 60-65 years old, married or living with someone, without any formal education or just with the 1st cycle of basic education and belonging to the less skilled category of the occupational activity (C category) in comparison with the othercorresponding groups. DISCUSSION: A previous national study found a similar proportion of the population at high/very high cardiovascular risk (19.5% versus 17.1%). Our study is representative of the adult Portuguese population and adopted the European Health Examination Survey procedures, which are essential for future comparisons with other European countries. Some of the limitations of this study include the possible participation bias and the non-calibration of the SCORE algorithm for the Portuguese population. CONCLUSION: In 2015, a considerable proportion of the Portuguese population aged between 40 and 65 years old had a high or very high risk of developing a fatal cardiovascular event in the next 10 years. Due to the possible overestimation of the cardiovascular risk already reported in other European countries, it will be important to carry out a follow-up study to validate the adequacy of using the SCORE algorithm in the Portuguese population.

Introdução: A doença cardiovascular é a principal causa de morbilidade e mortalidade a nível global e em Portugal. A utilização de algoritmos de avaliação do risco cardiovascular, nomeadamente o SCORE (Systematic Coronary Risk Evaluation), é recomendada no contexto da prevenção destas doenças. O objetivo deste estudo é estimar e caracterizar o risco cardiovascular na população portuguesa com idade compreendida entre os 40 e os 65 anos, em 2015, utilizando o algoritmo SCORE. Material e Métodos: Para o cálculo do risco cardiovascular foram considerados os participantes no Inquérito Nacional de Saúde com Exame Físico (INSEF), com idades entre os 40 e os 65 anos de idade, com dados disponíveis sobre sexo, idade, consumo de tabaco, colesterol total e pressão arterial sistólica (n = 2945). A prevalência das categorias de risco cardiovascular foi estratificada de acordo com o sexo, grupo etário, estado civil, escolaridade, ocupação, grau de urbanização, região e rendimento. Resultados: Em 2015, 5,1% e 11,9% da população residente em Portugal com idades entre os 40 e os 65 anos tinha, respetivamente, um risco elevado e um risco muito elevado de ter um evento cardiovascular fatal nos 10 anos seguintes. A maior prevalência de risco cardiovascular muito alto foi encontrada nos homens, nos indivíduos do grupo etário dos 60 aos 65 anos, casados ou vivendo conjugalmente, sem escolaridade ou apenas com o primeiro ciclo do ensino básico e pertencentes à categoria menos qualificada daatividade ocupacional (categoria C). Discussão: Um estudo nacional anterior encontrou uma percentagem semelhante da população com um risco elevado/muito elevado de ter um evento cardiovascular fatal (19,5% versus 17,1%). O nosso estudo é representativo da população portuguesa adulta e adotou os procedimentos do Inquérito Europeu de Saúde com Exame Físico, essencial para futuras comparações com outros países europeus. Algumas das limitações do presente estudo incluem o possível viés de participação e a não calibração do algoritmo SCORE para a população portuguesa. Conclusão: Uma percentagem considerável da população portuguesa com idade entre os 40 e os 65 anos tinha, em 2015, um risco alto ou muito alto de desenvolver um evento cardiovascular fatal nos 10 anos seguintes. Dada a possibilidade de sobrestimação de risco, já reportada para outros países Europeus, seria essencial realizar um estudo de follow-up para validar a adequação do uso do SCORE na população portuguesa.

Sociodemographic disparities in hypertension prevalence: Results from the first Portuguese National Health Examination Survey.

INTRODUCTION: Cardiovascular disease is an important cause of death and disability worldwide, and hypertension is responsible for at least 45% of all deaths due to heart disease and 51% of deaths due to stroke. This study aimed to estimate and describe the distribution of prevalence, awareness, treatment and control of hypertension in the Portuguese population in 2015. METHODS: A national survey using a representative sample of 4911 individuals residing in Portugal and aged between 25 and 74 years was implemented. Trained nurses performed a health interview and a physical examination, including blood pressure measurement (right arm, three measurements at 1-min intervals). The prevalence of hypertension was stratified by gender, age group, marital status, education, occupation and type of residential area. Associations between hypertension prevalence and sociodemographic factors were assessed using bivariate and multivariate Poisson regression. RESULTS: The overall hypertension prevalence was 36.0%. The highest rates were observed in males (39.6%), in individuals aged between 65 and 74 years (71.3%), and in those with low levels of education (62.6%) and with no formal occupation (64.5%). Among hypertensive individuals, 69.8% were aware of their condition and 69.4% were under treatment, of whom 71.3% were controlled. Rates of awareness and medical treatment were significantly higher among women and older individuals. CONCLUSIONS: A large majority of the adult Portuguese population are likely to reach blood pressure levels defined as hypertension in adulthood. Significant differences in hypertension prevalence were found according to gender, age and socioeconomic status, which highlights the importance of population strategies in public health policies.

Ambient air pollution and lipid profile: Systematic review and meta-analysis.

Ambient air pollution (AAP) is recognized a cardiovascular risk factor and lipid profile dysregulation seems to be one of the potential mediators involved. However, results from epidemiologic research on the association between exposure to AAP and altered lipid profile have been inconsistent. This study aims to systematically review and meta-analyse epidemiologic evidence on the association between exposure to ambient air pollutants (particulate matter, nitrogen oxides, sulphur dioxide, ozone, carbon monoxide, back carbon) and lipid profile parameters (Total cholesterol; High-Density Lipoprotein Cholesterol; Low-Density Lipoprotein Cholesterol; TG-Triglycerides) or dyslipidaemia. Systematic electronic literature search was performed in PubMed, Web of Science and Scopus databases (last search on 24th May 2019) using keywords related to the exposure (ambient air pollutants) and to the outcomes (lipid profile parameters/dyslipidaemia). Qualitative and quantitative information of the studies were extracted and fixed or random-effects models were used to obtain a pooled effect estimate per each pollutant/outcome combination. 22 studies were qualitatively analysed and, from those, 3 studies were quantitatively analysed. Particulate matters were the most studied pollutants and a considerable heterogeneity in air pollution assessment methods and outcomes definitions was detected. Age, obesity related measures, tobacco consumption, sex and socioeconomic factors were the most frequent considered variables for confounding adjustment in the models. In a long-term exposure scenario, we found a 3.14% (1.36%-4.95%) increase in TG levels per 10 µg/m3 PM10 increment and a 4.24% (1.37%-7.19%) increase in TG levels per 10 µg/m3 NO2 increment. No significant associations were detected for the remaining pollutant/outcome combinations. Despite the few studies included in the meta-analysis, our study suggests some epidemiologic evidence supporting the association between PM10 and NO2 exposures and increased TG levels. Due to the very low level of evidence, more studies are needed to clarify the role of lipid profile dysregulation as a mediator on the AAP adverse cardiovascular effects.

Differential self-report error by socioeconomic status in hypertension and hypercholesterolemia: INSEF 2015 study.

BACKGROUND: This study aimed to compare self-reported and examination-based prevalence of hypertension and hypercholesterolemia in Portugal in 2015 and to identify factors associated with the measurement error in self-reports. METHODS: We used data from the Portuguese National Health Examination Survey (n = 4911), that combines personal interview, blood collection and, physical examination. Sensitivity and specificity of self-reported hypertension and hypercholesterolemia were calculated. Poisson regression was used to estimate prevalence ratios (PRs) of underreport of hypertension and hypercholesterolemia according to sex, age, socioeconomic status (education and income) and general practitioner (GP) consultation in the past year. RESULTS: Sensitivity of self-reports was 69.8% for hypertension and 38.2% for hypercholesterolemia. Underreport of hypertension was associated with male gender (PR = 1.54), lack of GP consultation (PR = 1.70) and being 25-44 years old (PR = 2.45) or 45-54 years old (PR = 2.37). Underreport of hypercholesterolemia was associated with lack of GP consultation (PR = 1.15), younger age (PR = 1.83 for 25-44 age group and PR = 1.52 for 45-54 age group), secondary (PR = 1.30) and higher (PR = 1.27) education. CONCLUSION: Self-reported data underestimate prevalence of hypertension and hypercholesterolemia. Magnitude of measurement error in self-reports varies by health conditions and population characteristics. Adding objective measurements to self-reported questionnaires improve data accuracy allowing better understanding of socioeconomic inequalities in health.

Prevalence of overweight and obesity in Portugal: Results from the First Portuguese Health Examination Survey (INSEF 2015).

Obesity is recognised as a serious public health issue, due to its associated morbidity and mortality. This study aimed at estimating the prevalence of overweight and obesity in the Portuguese population through direct measurements obtained by the 1st National Health Examination Survey (INSEF 2015) and to identify its associated sociodemographic factors. INSEF was a nationally representative cross-sectional prevalence study conducted on 4911 Portuguese adults aged 25-74 years, in 2015. Height and weight were measured according to the European Health Examination Survey procedures. Poisson regression was used to estimate the adjusted prevalence ratios of overweight and obesity according to age, marital status, occupational activity, education, urbanization of living area and smoking status. Overall prevalences of overweight and obesity were 39.1% and 28.6%, respectively. The prevalence of overweight was higher among men (45.5% vs 33.2%) while the prevalence of obesity was higher among women (32% vs 25%). The sociodemographic factors associated with overweight and obesity were age, marital status and education. Smoking status was associated with overweight and obesity but only in women. INSEF suggests that a high prevalences of overweight and obesity are found in older individuals, married, with lower education levels and non-smoking women. Public health interventions are urgently required for obesity prevention, namely throughout health literacy strategies.

Estimating Global Burden of Disease due to congenital anomaly: an analysis of European data.

OBJECTIVE: To validate the estimates of Global Burden of Disease (GBD) due to congenital anomaly for Europe by comparing infant mortality data collected by EUROCAT registries with the WHO Mortality Database, and by assessing the significance of stillbirths and terminations of pregnancy for fetal anomaly (TOPFA) in the interpretation of infant mortality statistics. DESIGN, SETTING AND OUTCOME MEASURES: EUROCAT is a network of congenital anomaly registries collecting data on live births, fetal deaths from 20 weeks' gestation and TOPFA. Data from 29 registries in 19 countries were analysed for 2005-2009, and infant mortality (deaths of live births at age <1 year) compared with the WHO Mortality Database. Eight EUROCAT countries were excluded from further analysis on the basis that this comparison showed poor ascertainment of survival status. RESULTS: According to WHO, 17%-42% of infant mortality was attributed to congenital anomaly. In 11 EUROCAT countries, average infant mortality with congenital anomaly was 1.1 per 1000 births, with higher rates where TOPFA is illegal (Malta 3.0, Ireland 2.1). The rate of stillbirths with congenital anomaly was 0.6 per 1000. The average TOPFA prevalence was 4.6 per 1000, nearly three times more prevalent than stillbirths and infant deaths combined. TOPFA also impacted on the prevalence of postneonatal survivors with non-lethal congenital anomaly. CONCLUSIONS: By excluding TOPFA and stillbirths from GBD years of life lost (YLL) estimates, GBD underestimates the burden of disease due to congenital anomaly, and thus declining YLL over time may obscure lack of progress in primary, secondary and tertiary prevention.

[Diabetes: Socioeconomic Inequalities in the Portuguese Population in 2014]. / Diabetes: Desigualdades Socioeconómicas na População Portuguesa em 2014.

INTRODUCTION: Diabetes is a major public health problem and it is related to socioeconomic factors. The aim of this study is to describe socioeconomic inequalities in the distribution of diabetes in the population with 25 years or more, resident in Portugal in 2014. MATERIAL AND METHODS: Data from the Health National Survey 2014 was analysed, n = 16 786. We estimated the prevalence of diabetes in the population and stratified by socioeconomic variables namely educational level and income. The extent of socioeconomic inequalities was assessed using concentration index and the relative index of inequality. RESULTS: Diabetes was found to be concentrated among the people with lower educational levels (concentration index = -0.26) and lower income quintiles (concentration index = -0.14). Relative index of inequality also showed a lower degree of inequality among the most educated (0,20; CI 95% = [0,12; 0,32]) and with higher income (0,59; CI 95% = [0,48; 0,74]). DISCUSSION: Distribution of diabetes is associated with education and income. Previous studies have shown that although income might reflect lifestyle patterns, education reflects better social factors that are important for establishing healthier behaviours. Also, the National Health Service, of universal coverage and free of charge, might have contributed to reduce inequalities in the access to health by those with the lowest income. CONCLUSION: Supporting 'Health in All Policies' might reduce inequalities, namely by improving population educational level and actions that promote health literacy.

Introdução: A diabetes é considerada um dos maiores problemas de saúde pública e está associada a fatores socioeconómicos. O objetivo deste estudo foi descrever as desigualdades socioeconómicas na distribuição da diabetes na população com idade igual ou superior a 25 anos, residente em Portugal em 2014. Material e Métodos: Foram analisados dados do Inquérito Nacional de Saúde de 2014, n = 16 786. Calcularam-se estimativas da prevalência da diabetes total e estratificada por variáveis de caracterização socioeconómica designadamente o nível de escolaridade e o rendimento. O grau de desigualdade socioeconómica foi estimado através do índice de concentração e do índice relativo de desigualdade. Resultados: A diabetes concentrou-se na população com menor nível de escolaridade (índice de concentração = -0,26) e nos quintis de menor rendimento (índice de concentração = -0,14). O índice relativo de desigualdade evidenciou menor desigualdade nos grupos com um maior nível de escolaridade (0,20; IC 95% = [0,12; 0,32]) e com maior rendimento (0,59; IC 95% = [0,48; 0,74]). Discussão: A distribuição da diabetes está associada ao nível educacional e ao rendimento. Estudos anteriores mostraram que, apesar do rendimento poder refletir o padrão de vida das pessoas, a educação reflete o contexto social imediato em que o individuo se integra e que contribui para adotar estilos de vida mais saudáveis. Ainda, o Serviço Nacional de Saúde, por ser universal e tendencialmente gratuito, pode ter contribuído para reduzir desigualdades no acesso à saúde por grupos de menor rendimento. Conclusão: Integrar a 'Saúde em Todas as Políticas' pode reduzir as desigualdades, nomeadamente através da melhoria do nível educacional da população e do desenvolvimento de ações que promovam a literacia em saúde.

Hospitalization Risk Due to Respiratory Illness Associated with Genetic Variation at IFITM3 in Patients with Influenza A(H1N1)pdm09 Infection: A Case-Control Study.

BACKGROUND: Recent studies suggest an association between the Interferon Inducible Transmembrane 3 (IFITM3) rs12252 variant and the course of influenza infection. However, it is not clear whether the reported association relates to influenza infection severity. The aim of this study was to estimate the hospitalization risk associated with this variant in Influenza Like Illness (ILI) patients during the H1N1 pandemic influenza. METHODS: A case-control genetic association study was performed, using nasopharyngeal/oropharyngeal swabs collected during the H1N1 pandemic influenza. Laboratory diagnosis of influenza infection was performed by RT-PCR, the IFITM3 rs12252 was genotyped by RFLP and tested for association with hospitalization. Conditional logistic regression was performed to calculate the confounder-adjusted odds ratio of hospitalization associated with IFITM3 rs12252. RESULTS: We selected 312 ILI cases and 624 matched non-hospitalized controls. Within ILI Influenza A(H1N1)pdm09 positive patients, no statistical significant association was found between the variant and the hospitalization risk (Adjusted OR: 0.73 (95%CI: 0.33-1.50)). Regarding ILI Influenza A(H1N1)pdm09 negative patients, CT/CC genotype carriers had a higher risk of being hospitalized than patients with TT genotype (Adjusted OR: 2.54 (95%CI: 1.54-4.19)). CONCLUSIONS: The IFITM3 rs12252 variant was associated with respiratory infection hospitalization but not specifically in patients infected with Influenza A(H1N1)pdm09.

Congenital anomalies associated with trisomy 18 or trisomy 13: A registry-based study in 16 European countries, 2000-2011.

The aim of this study was to examine the prevalence of trisomies 18 and 13 in Europe and the prevalence of associated anomalies. Twenty-five population-based registries in 16 European countries provided data from 2000-2011. Cases included live births, fetal deaths (20+ weeks' gestation), and terminations of pregnancy for fetal anomaly (TOPFAs). The prevalence of associated anomalies was reported in live births. The prevalence of trisomy 18 and trisomy 13 were 4.8 (95%CI: 4.7-5.0) and 1.9 (95%CI: 1.8-2.0) per 10,000 total births. Seventy three percent of cases with trisomy 18 or trisomy 13 resulted in a TOPFA. Amongst 468 live born babies with trisomy 18, 80% (76-83%) had a cardiac anomaly, 21% (17-25%) had a nervous system anomaly, 8% (6-11%) had esophageal atresia and 10% (8-13%) had an orofacial cleft. Amongst 240 Live born babies with trisomy 13, 57% (51-64%) had a cardiac anomaly, 39% (33-46%) had a nervous system anomaly, 30% (24-36%) had an eye anomaly, 44% (37-50%) had polydactyly and 45% (39-52%) had an orofacial cleft. For babies with trisomy 18 boys were less likely to have a cardiac anomaly compared with girls (OR = 0.48 (0.30-0.77) and with trisomy 13 were less likely to have a nervous system anomaly [OR = 0.46 (0.27-0.77)]. Babies with trisomy 18 or trisomy 13 do have a high proportion of associated anomalies with the distribution of anomalies being different in boys and girls.

Major congenital anomalies in babies born with Down syndrome: a EUROCAT population-based registry study.

Previous studies have shown that over 40% of babies with Down syndrome have a major cardiac anomaly and are more likely to have other major congenital anomalies. Since 2000, many countries in Europe have introduced national antenatal screening programs for Down syndrome. This study aimed to determine if the introduction of these screening programs and the subsequent termination of prenatally detected pregnancies were associated with any decline in the prevalence of additional anomalies in babies born with Down syndrome. The study sample consisted of 7,044 live births and fetal deaths with Down syndrome registered in 28 European population-based congenital anomaly registries covering seven million births during 2000-2010. Overall, 43.6% (95% CI: 42.4-44.7%) of births with Down syndrome had a cardiac anomaly and 15.0% (14.2-15.8%) had a non-cardiac anomaly. Female babies with Down syndrome were significantly more likely to have a cardiac anomaly compared to male babies (47.6% compared with 40.4%, P < 0.001) and significantly less likely to have a non-cardiac anomaly (12.9% compared with 16.7%, P < 0.001). The prevalence of cardiac and non-cardiac congenital anomalies in babies with Down syndrome has remained constant, suggesting that population screening for Down syndrome and subsequent terminations has not influenced the prevalence of specific congenital anomalies in these babies.

Under-estimation of obesity, hypertension and high cholesterol by self-reported data: comparison of self-reported information and objective measures from health examination surveys.

BACKGROUND: Non-communicable diseases (NCDs) cause 63% of deaths worldwide. The leading NCD risk factor is raised blood pressure, contributing to 13% of deaths. A large proportion of NCDs are preventable by modifying risk factor levels. Effective prevention programmes and health policy decisions need to be evidence based. Currently, self-reported information in general populations or data from patients receiving healthcare provides the best available information on the prevalence of obesity, hypertension, diabetes, etc. in most countries. METHODS: In the European Health Examination Survey Pilot Project, 12 countries conducted a pilot survey among the working-age population. Information was collected using standardized questionnaires, physical measurement and blood sampling protocols. This allowed comparison of self-reported and measured data on prevalence of overweight, obesity, hypertension, high blood cholesterol and diabetes. RESULTS: Self-reported data under-estimated population means and prevalence for health indicators assessed. The self-reported data provided prevalence of obesity four percentage points lower for both men and women. For hypertension, the self-reported prevalence was 10 percentage points lower, only in men. For elevated total cholesterol, the difference was 50 percentage point among men and 44 percentage points among women. For diabetes, again only in men, the self-reported prevalence was 1 percentage point lower than measured. With self-reported data only, almost 70% of population at risk of elevated total cholesterol is missed compared with data from objective measurements. CONCLUSIONS: Health indicators based on measurements in the general population include undiagnosed cases, therefore providing more accurate surveillance data than reliance on self-reported or healthcare-based information only.

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.

Epidemiology of small intestinal atresia in Europe: a register-based study.

BACKGROUND: The epidemiology of congenital small intestinal atresia (SIA) has not been well studied. This study describes the presence of additional anomalies, pregnancy outcomes, total prevalence and association with maternal age in SIA cases in Europe. METHODS: Cases of SIA delivered during January 1990 to December 2006 notified to 20 EUROCAT registers formed the population-based case series. Prevalence over time was estimated using multilevel Poisson regression, and heterogeneity between registers was evaluated from the random component of the intercept. RESULTS: In total 1133 SIA cases were reported among 5126, 164 registered births. Of 1044 singleton cases, 215 (20.6%) cases were associated with a chromosomal anomaly. Of 829 singleton SIA cases with normal karyotype, 221 (26.7%) were associated with other structural anomalies. Considering cases with normal karyotype, the total prevalence per 10 000 births was 1.6 (95% CI 1.5 to 1.7) for SIA, 0.9 (95% CI 0.8 to 1.0) for duodenal atresia and 0.7 (95% CI 0.7 to 0.8) for jejunoileal atresia (JIA). There was no significant trend in SIA, duodenal atresia or JIA prevalence over time (RR=1.0, 95% credible interval (CrI): 1.0 to 1.0 for each), but SIA and duodenal atresia prevalence varied by geographical location (p=0.03 and p=0.04, respectively). There was weak evidence of an increased risk of SIA in mothers aged less than 20 years compared with mothers aged 20 to 29 years (RR=1.3, 95% CrI: 1.0 to 1.8). CONCLUSION: This study found no evidence of a temporal trend in the prevalence of SIA, duodenal atresia or JIA, although SIA and duodenal atresia prevalence varied significantly between registers.

Paper 6: EUROCAT member registries: organization and activities.

BACKGROUND: EUROCAT is a network of population-based congenital anomaly registries providing standardized epidemiologic information on congenital anomalies in Europe. There are three types of EUROCAT membership: full, associate, or affiliate. Full member registries send individual records of all congenital anomalies covered by their region. Associate members transmit aggregate case counts for each EUROCAT anomaly subgroup by year and by type of birth. This article describes the organization and activities of each of the current 29 full member and 6 associate member registries of EUROCAT. METHODS: Each registry description provides information on the history and funding of the registry, population coverage including any changes in coverage over time, sources for ascertaining cases of congenital anomalies, and upper age limit for registering cases of congenital anomalies. It also details the legal requirements relating to termination of pregnancy for fetal anomalies, the definition of stillbirths and fetal deaths, and the prenatal screening policy within the registry. Information on availability of exposure information and denominators is provided. The registry description describes how each registry conforms to the laws and guidelines regarding ethics, consent, and confidentiality issues within their own jurisdiction. Finally, information on electronic and web-based data capture, recent registry activities, and publications relating to congenital anomalies, along with the contact details of the registry leader, are provided. CONCLUSIONS: The registry description gives a detailed account of the organizational and operational aspects of each registry and is an invaluable resource that aids interpretation and evaluation of registry prevalence data.

Air conditioning and intrahospital mortality during the 2003 heatwave in Portugal: evidence of a protective effect.

OBJECTIVES: The objective of the study was to analyse the association between the presence of air conditioning in hospital wards and the intrahospital mortality during the 2003 heatwave, in mainland Portugal. METHODS: Historical cohort study design including all patients aged 45 or more who were hospitalised in the 7 days before the heatwave. The outcome was survival during the 18 days the heatwave lasted and during the 2 days after the end of the heatwave. A comparison group was also selected in four analogous periods without any heatwave event during January to May 2003. Data were obtained from the 2003 hospital discharges database. Air conditioning presence in hospital wards was determined using a survey sent to hospital administrations. A Cox-regression model was used to estimate the confounder-adjusted HR of death, during the heatwave and the comparison period, in patients in wards with air conditioning (AC+) versus patients in wards without air conditioning (AC-). RESULTS: 41 hospitals of mainland Portugal (49% of all hospitals in mainland Portugal) participated, and 2093 patients were enrolled. The overall confounder-adjusted HR of death in AC+ patients versus AC- patients was 0.60 (95% CI 0.37 to 0.97) for the heatwave period and 1.05 (95% CI 0.84 to 1.32) for the comparison group. CONCLUSIONS: The study found strong evidence that, during the August 2003 heatwave, the presence of air conditioning in hospital wards was associated with an increased survival of patients admitted before the beginning of the climate event. The reduction of the risk of dying is estimated to be 40% (95% CI 3% to 63%).