Carlos Matias Dias

Paper 6: EUROCAT member registries: organization and activities

BACKGROUNDnEUROCAT 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.nnnMETHODSnEach 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.nnnCONCLUSIONSnThe 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.

Milk intake is inversely related to obesity in men and in young women : data from the Portuguese Health Interview Survey 1998-1999

Objective:To assess the relationships between milk intake and body mass index (BMI) in a representative sample of the mainland Portuguese population.Design:Cross-sectional study.Setting:National Health Interview Survey 1998–1999. Average daily milk intake was calculated by a frequency questionnaire that also assessed the average volume of one serving. BMI was derived from the subjects reported height and weight.Subjects:A total of 17u2009771 men and 19u2009742 women aged ⩾18u2009y.Results:In men, milk intake was inversely related to BMI (r=−0.10, P<0.001), whereas the relationship in women was weaker (r=−0.06, P<0.001). In men, prevalence of milk consumers was lower in obese (62%) and in overweight (68%) than in normal weight subjects (71%, P<0.001). After adjusting for age, region, physical activity, smoking, number of meals and educational level, milk intake decreased with increasing BMI (adjusted mean±s.e.: 280±5, 266±5 and 246±7u2009ml/day for normal, overweight and obese subjects, respectively, P<0.001), even after excluding subjects who did not consume milk (368±5, 353±6 and 346±8u2009ml/day, P<0.02). In women, prevalence of milk consumers was lower in obese (71%) and in overweight (72%) than in normal weight subjects (76%, P<0.001). In women younger than 55u2009y, milk intake decreased with increased BMI categories (291±9, 271±10 and 269±11u2009ml/day for normal, overweight and obese subjects, respectively, P<0.001), whereas no relationship was found in the older group.Conclusions:Increased calcium intake is slightly but significantly negatively related with BMI in men and premenopausal women. The lack of relationship in older women might be due to the hormonal status, but awaits further investigation.

Long term trends in prevalence of neural tube defects in Europe : population based study

Study question What are the long term trends in the total (live births, fetal deaths, and terminations of pregnancy for fetal anomaly) and live birth prevalence of neural tube defects (NTD) in Europe, where many countries have issued recommendations for folic acid supplementation but a policy for mandatory folic acid fortification of food does not exist? Methods This was a population based, observational study using data on 11u2009353 cases of NTD not associated with chromosomal anomalies, including 4162 cases of anencephaly and 5776 cases of spina bifida from 28 EUROCAT (European Surveillance of Congenital Anomalies) registries covering approximately 12.5 million births in 19 countries between 1991 and 2011. The main outcome measures were total and live birth prevalence of NTD, as well as anencephaly and spina bifida, with time trends analysed using random effects Poisson regression models to account for heterogeneities across registries and splines to model non-linear time trends. Summary answer and limitations Overall, the pooled total prevalence of NTD during the study period was 9.1 per 10u2009000 births. Prevalence of NTD fluctuated slightly but without an obvious downward trend, with the final estimate of the pooled total prevalence of NTD in 2011 similar to that in 1991. Estimates from Poisson models that took registry heterogeneities into account showed an annual increase of 4% (prevalence ratio 1.04, 95% confidence interval 1.01 to 1.07) in 1995-99 and a decrease of 3% per year in 1999-2003 (0.97, 0.95 to 0.99), with stable rates thereafter. The trend patterns for anencephaly and spina bifida were similar, but neither anomaly decreased substantially over time. The live birth prevalence of NTD generally decreased, especially for anencephaly. Registration problems or other data artefacts cannot be excluded as a partial explanation of the observed trends (or lack thereof) in the prevalence of NTD. What this study adds In the absence of mandatory fortification, the prevalence of NTD has not decreased in Europe despite longstanding recommendations aimed at promoting peri-conceptional folic acid supplementation and existence of voluntary folic acid fortification. Funding, competing interests, data sharing The study was funded by the European Public Health Commission, EUROCAT Joint Action 2011-2013. HD and ML received support from the European Commission DG Sanco during the conduct of this study. No additional data available.

Trends of food intake in Portugal, 1987-1999: results from the National Health Surveys.

Objective:To assess trends of food intake in Portugal.Design:Analysis of three cross-sectional studies: 1987, 1995–1996 and 1998–1999.Setting:Representative samples of free-living individuals.Subjects:64u2009734 men and 71u2009282 women.Interventions:Food intake was assessed by questionnaires inquiring the number of meals and which foodstuffs (fish, meat, milk, rice/pasta/potatoes, soup, vegetables and fruit) had been consumed the day before.Results:Age-adjusted average number of meals decreased from 3.3±0.1 in 1987 to 2.9±0.1 in 1998–1999 in both genders (P<0.001). In men, the percentage of subjects consuming meat, milk and potatoes/rice/pasta increased from 73, 66 and 91% in 1987 to 83, 74 and 95% in 1998–1999, respectively. The percentage of subjects consuming soup and fish decreased from 70 and 56% in 1987 to 62 and 53% in 1998–1999, respectively. In women, the percentage of subjects consuming meat, milk, potatoes/rice/pasta and vegetable increased from 70, 66, 89 and 71% in 1987 to 78, 77, 93 and 83% in 1998–1999, respectively. The percentage of subjects consuming soup and fish decreased from 70 and 55% in 1987 to 64 and 53% in 1998–1999, respectively. These trends were more pronounced in the younger age, which also displayed a higher frequency of snacking. Multivariate analysis adjusting for age group, region and educational level showed that the consumption of meat, milk and vegetables increased and the consumption of soup, fish and fruit decreased in 1998–1999 relative to 1995–1996.Conclusions:Within a decade, the Portuguese dietary pattern has changed considerably, shifting from a traditional, south European to a more Westernized, protein-rich diet.Sponsorship:The Unidade de Nutrição e Metabolismo of the Instituto de Medicina Molecular is partially funded by a grant from the FCT (Fundação para a Ciência e a Tecnologia) ref. RUN 437.

Spectrum of congenital anomalies in pregnancies with pregestational diabetes

BACKGROUNDnMaternal pregestational diabetes is a well-known risk factor for congenital anomalies. This study analyses the spectrum of congenital anomalies associated with maternal diabetes using data from a large European database for the population-based surveillance of congenital anomalies.nnnMETHODSnData from 18 population-based EUROCAT registries of congenital anomalies in 1990-2005. All malformed cases occurring to mothers with pregestational diabetes (diabetes cases) were compared to all malformed cases in the same registry areas to mothers without diabetes (non-diabetes cases).nnnRESULTSnThere were 669 diabetes cases and 92,976 non diabetes cases. Odds ratios in diabetes pregnancies relative to non-diabetes pregnancies comparing each EUROCAT subgroup to all other non-chromosomal anomalies combined showed significantly increased odds ratios for neural tube defects (anencephaly and encephalocele, but not spina bifida) and several subgroups of congenital heart defects. Other subgroups with significantly increased odds ratios were anotia, omphalocele and bilateral renal agenesis. Frequency of hip dislocation was significantly lower among diabetes (odds ratio 0.15, 95% CI 0.05-0.39) than non-diabetes cases. Multiple congenital anomalies were present in 13.6 % of diabetes cases and 6.1 % of non-diabetes cases. The odds ratio for caudal regression sequence was very high (26.40,95% CI 8.98-77.64), but only 17% of all caudal regression cases resulted from a pregnancy with pregestational diabetes.nnnCONCLUSIONSnThe increased risk of congenital anomalies in pregnancies with pregestational diabetes is related to specific non-chromosomal congenital anomalies and multiple congenital anomalies and not a general increased risk.

Trends and determinants of alcohol consumption in Portugal: results from the national health surveys 1995 to 1996 and 1998 to 1999.

BACKGROUNDnThere is very little information on trends and determinants of alcohol consumption in the Portuguese population, which is usually characterized by high wine consumption.nnnMETHODSnA cross-sectional studies was conducted in 1995/1996 and 1998/1999 in a representative sample of 0.5% of the mainland Portuguese population (49,768 participants in 1995/1996 and 48,606 in 1998/1999), aged 15 years or more. Alcohol consumption was assessed by asking whether the participants had consumed alcohol in the previous week and how many drinks of wine/beer/whiskey/Port wine they consumed on average during that week.nnnRESULTSnPrevalence of reported alcohol consumption decreased slightly between 1995/1996 and 1998/1999 (men: 65.7 vs. 64.0%, p < 0.001; women: 26.9 vs. 26.0%, p < 0.001). Among drinkers, the most frequently consumed alcoholic beverage was wine, followed by beer, whiskey, and Port wine. The amount of alcohol and wine consumed decreased in both sexes, whereas the amount of beer, whiskey, and Port wine consumed increased in men and the increase in beer consumption was borderline significant in women (p = 0.056). In both sexes, participants <50 years of age tended to consume less wine and more beer, whiskey, and Port wine than their older counterparts. Also, higher education was related to a higher frequency of alcohol consumption, whereas smoking was related to a lower consumption of wine [odds ratio (OR): 0.69 (95% confidence interval [CI]: 0.62-0.77) for men and OR: 0.76 (95% CI: 0.61-0.95) for women] and a higher consumption of beer [OR: 1.43 (95% CI: 1.33-1.54) for men and OR: 2.13 (95% CI: 1.84-2.42) for women and whiskey [OR: 1.28 (95% CI: 1.21-1.35) for men and OR: 2.61 (95% CI: 2.25-3.02) for women].nnnCONCLUSIONSnThe pattern of alcohol consumption is changing in Portugal: the prevalence of drinkers is decreasing, and younger generations are shifting from wine to beer and spirits. Educational level seems to be a powerful mediator in the choice of alcoholic beverage.

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.

An overview of the European Health Examination Survey Pilot Joint Action

BackgroundHealth Examination Surveys (HESs) can provide essential information on the health and health determinants of a population, which is not available from other data sources. Nevertheless, only some European countries have systems of national HESs. A study conducted in 2006–2008 concluded that it is feasible to organize national HESs using standardized measurement procedures in nearly all EU countries. The feasibility study also outlined a structure for a European Health Examination Survey (EHES), which is a collaboration to organize standardized HESs in countries across Europe.To facilitate setting up national surveys and to gain experience in applying the EHES methods in different cultures, EHES Joint Action (2010–2011) planned and piloted standardized HESs in the working age population in 12 countries. This included countries with earlier national HESs and countries which were planning their first national HES. The core measurements included in all surveys were weight, height, waist circumference and blood pressure, and blood samples were taken to measure lipid profiles and glucose or glycated haemoglobin (HbA1c). These are modifiable determinants of major chronic diseases not identified in health interview surveys. There was a questionnaire to complement the data on the examination measurements.MethodsEvaluation of the pilot surveys was based on review of national manuals and evaluation reports of survey organizers; observations and discussions of survey procedures during site visits and training seminars; and other communication with the survey organizers.ResultsDespite unavoidable differences in the ways HESs are organized in the various countries, high quality and comparability of the data seems achievable. The biggest challenge in each country was obtaining high participation rate. Most of the pilot countries are now ready to start their full-size national HES, and six of them have already started.ConclusionsThe EHES Pilot Project has set up the structure for obtaining comparable high quality health indicators on health and important modifiable risk factors of major non-communicable diseases from the European countries. The European Union is now in a key position to make this structure sustainable. The EHES core survey can be expanded to cover other measurements.

Hirschsprung's disease prevalence in Europe : A register based study

BACKGROUNDnHirschsprungs disease is a congenital gut motility disorder, characterised by the absence of the enteric ganglion cells along the distal gut. The aim of this study was to describe the epidemiology of Hirschsprungs disease, including additional congenital anomalies, total prevalence, trends, and association with maternal age.nnnMETHODSnCases of Hirschsprungs disease delivered during 1980 to 2009 notified to 31 European Surveillance of Congenital Anomaly registers formed the population-based case-series. Prevalence rates and 95% confidence intervals were calculated as the number of cases per 10,000 births. Multilevel Poisson regression was performed to investigate trends in prevalence, geographical variation and the association with maternal age.nnnRESULTSnThere were 1,322 cases of Hirschsprungs disease among 12,146,210 births. The total prevalence was 1.09 (95% confidence interval, 1.03-1.15) per 10,000 births and there was a small but significant increase in prevalence over time (relative risk = 1.01; 95% credible interval, 1.00-1.02; p = 0.004). There was evidence of geographical heterogeneity in prevalence (p < 0.001). Excluding 146 (11.0%) cases with chromosomal anomalies or genetic syndromes, there were 1,176 cases (prevalence = 0.97; 95% confidence interval, 0.91-1.03 per 10,000 births), of which 137 (11.6%) had major structural anomalies. There was no evidence of a significant increased risk of Hirschsprungs disease in cases born to women aged ≥35 years compared with those aged 25 to 29 (relative risk = 1.09; 95% credible interval, 0.91-1.31; p = 0.355).nnnCONCLUSIONnThis large population-based study found evidence of a small increasing trend in Hirschsprungs disease and differences in prevalence by geographic location. There was also no evidence of an association with maternal age.

Clinical, biochemical and molecular characterization of Cystinuria in a cohort of 12 patients

Barbosa M, Lopes A, Mota C, Martins E, Oliveira J, Alves S, De Bonis P, do Céu Mota M, Dias C, Rodrigues‐Santos P, Fortuna AM, Quelhas D, Lacerda L, Bisceglia L, Cardoso ML. Clinical, biochemical and molecular characterization of Cystinuria in a cohort of 12 patients.