Epidemiology of multiple congenital anomalies in Europe: a EUROCAT population-based registry study.

BACKGROUND: This study describes the prevalence, associated anomalies, and demographic characteristics of cases of multiple congenital anomalies (MCA) in 19 population-based European registries (EUROCAT) covering 959,446 births in 2004 and 2010. METHODS: EUROCAT implemented a computer algorithm for classification of congenital anomaly cases followed by manual review of potential MCA cases by geneticists. MCA cases are defined as cases with two or more major anomalies of different organ systems, excluding sequences, chromosomal and monogenic syndromes. RESULTS: The combination of an epidemiological and clinical approach for classification of cases has improved the quality and accuracy of the MCA data. Total prevalence of MCA cases was 15.8 per 10,000 births. Fetal deaths and termination of pregnancy were significantly more frequent in MCA cases compared with isolated cases (p < 0.001) and MCA cases were more frequently prenatally diagnosed (p < 0.001). Live born infants with MCA were more often born preterm (p < 0.01) and with birth weight < 2500 grams (p < 0.01). Respiratory and ear, face, and neck anomalies were the most likely to occur with other anomalies (34% and 32%) and congenital heart defects and limb anomalies were the least likely to occur with other anomalies (13%) (p < 0.01). However, due to their high prevalence, congenital heart defects were present in half of all MCA cases. Among males with MCA, the frequency of genital anomalies was significantly greater than the frequency of genital anomalies among females with MCA (p < 0.001). CONCLUSION: Although rare, MCA cases are an important public health issue, because of their severity. The EUROCAT database of MCA cases will allow future investigation on the epidemiology of these conditions and related clinical and diagnostic problems.

Rare chromosome abnormalities, prevalence and prenatal diagnosis rates from population-based congenital anomaly registers in Europe.

The aim of this study is to quantify the prevalence and types of rare chromosome abnormalities (RCAs) in Europe for 2000-2006 inclusive, and to describe prenatal diagnosis rates and pregnancy outcome. Data held by the European Surveillance of Congenital Anomalies database were analysed on all the cases from 16 population-based registries in 11 European countries diagnosed prenatally or before 1 year of age, and delivered between 2000 and 2006. Cases were all unbalanced chromosome abnormalities and included live births, fetal deaths from 20 weeks gestation and terminations of pregnancy for fetal anomaly. There were 10,323 cases with a chromosome abnormality, giving a total birth prevalence rate of 43.8/10,000 births. Of these, 7335 cases had trisomy 21,18 or 13, giving individual prevalence rates of 23.0, 5.9 and 2.3/10,000 births, respectively (53, 13 and 5% of all reported chromosome errors, respectively). In all, 473 cases (5%) had a sex chromosome trisomy, and 778 (8%) had 45,X, giving prevalence rates of 2.0 and 3.3/10,000 births, respectively. There were 1,737 RCA cases (17%), giving a prevalence of 7.4/10,000 births. These included triploidy, other trisomies, marker chromosomes, unbalanced translocations, deletions and duplications. There was a wide variation between the registers in both the overall prenatal diagnosis rate of RCA, an average of 65% (range 5-92%) and the prevalence of RCA (range 2.4-12.9/10,000 births). In all, 49% were liveborn. The data provide the prevalence of families currently requiring specialised genetic counselling services in the perinatal period for these conditions and, for some, long-term care.

Cardiovascular risk estimation and eligibility for statin therapy using different scoring systems in Europe: a population-based study in Switzerland

BACKGROUND: Recommendations for statin use for primary prevention of coronary heart disease (CHD) are based on estimation of the 10- year CHD risk. We compared the 10-year CHD risk assessments and eligibility percentages for statin therapy using three scoring algorithms currently used in Europe. METHODS: We studied 5683 women and men, aged 35-75, without overt cardiovascular disease (CVD), in a population-based study in Switzerland. We compared the 10-year CHD risk using three scoring schemes, i.e., the Framingham risk score (FRS) from the U.S. National Cholesterol Education Program's Adult Treatment Panel III (ATP III), the PROCAM scoring scheme from the International Atherosclerosis Society (IAS), and the European risk SCORE for low-risk countries, without and with extrapolation to 60 years as recommended by the European Society of Cardiology guidelines (ESC). With FRS and PROCAM, high-risk was defined as a 10- year risk of fatal or non-fatal CHD>20% and a 10-year risk of fatal CVD≥5% with SCORE. We compared the proportions of high-risk participants and eligibility for statin use according to these three schemes. For each guideline, we estimated the impact of increased statin use from current partial compliance to full compliance on potential CHD deaths averted over 10 years, using a success proportion of 27% for statins. RESULTS: Participants classified at high-risk (both genders) were 5.8% according to FRS and 3.0% to the PROCAM, whereas the European risk SCORE classified 12.5% at high-risk (15.4% with extrapolation to 60 years). For the primary prevention of CHD, 18.5% of participants were eligible for statin therapy using ATP III, 16.6% using IAS, and 10.3% using ESC (13.0% with extrapolation) because ESC guidelines recommend statin therapy only in high-risk subjects. In comparison with IAS, agreement to identify eligible adults for statins was good with ATP III, but moderate with ESC. Using a population perspective, a full compliance with ATP III guidelines would reduce up to 17.9% of the 24′ 310 CHD deaths expected over 10 years in Switzerland, 17.3% with IAS and 10.8% with ESC (11.5% with extrapolation). CONCLUSIONS: Full compliance with guidelines for statin therapy would result in substantial health benefits, but proportions of high-risk adults and eligible adults for statin use varied substantially depending on the scoring systems and corresponding guidelines used for estimating CHD risk in Europe.

« Traictez faicts entre le Grand-Seigneur et les roys de France, potentats et républiques de l'Europe, depuis le règne du roy François premier, 1528, jusques à Louis XIII, 1634, avec autres pièces et mémoires servans à l'histoire de Turquie » ; aventures de Djem ou Zizim ; pièces sur les États barbaresques, l'Égypte, etc.

Contient : « Traicté entre le Grand-Seigneur et les consuls des Catelans et François, pour le faict du commerce », 1528 ; Traités entre la Turquie et Venise, 1530 ; Traité de paix entre la France et la Turquie, 1535 ; Traité entre Charles-Quint et le roi de Tunis, 1535 (f. 35), — et pièces concernant les relations de l'Empire et de la Turquie au XVIe siècle (f. 42) ; « Meubles envoyez à dom Jehan d'Austriche par sultan Sélim » ; « Traicté entre sultan Sélim... et Charles IX..., 1569 » ; Confirmation des traités entre la France et la Turquie, 1581 ; « Sommaire de la vie de Sélim second..., 1566-1574 » ; « Déclaration de guerre... envoyée au roy de Pologne par... Mahometh III » ; « Sommaire de la vie de Soliman..., 1520-1566 » ; « Traductio litterarum Suleyman Beg, gabellarii quondam Constantino politani, quas scribit ad mortem domini quondam oratoris Franciae domini Johannis de Dolu, propter debita facta, 1565 » ; « Zizimi, ou la relation des aventures du prince Zizimi... ; ce que j'ay trouvé à propos d'insérer icy, à cause qu'il y a plusieurs particularitez qui n'ont point esté mises dans son histoire imprimée » ; «Relatione del viaggio delle galere di Fiorenza..., 1599 » ; « Capitulation d'entre Henry-le-Grand et sultan Achmet » ; « Lettre escrite au roy... Henry IV par Mr de L'Isle », Madrid, 1608 ; « Capitulation et traicté accordés entre sultan Acmat..., d'une part, et... les Estats-Généraux des ... Provinces-Unies des Pays-Bas, d'autre part », juillet 1612 ; « Traicté de paix et d'accommodement, du 21 mars 1619, faict entre monsieur de Guise et les Marseillois, d'une part, et les députez du bâcha et divan d'Alger, d'autre » ; « Lettre du grand roy de Sumatra à Jacques premier, roy d'Angleterre » ; « Advis donné au Roy Très chrestien par Raymond Merigon, de Marseille, pour la conqueste des royaumes d'Alger et Thunis » ; Courte relation du « voyage du Père Pacifique de Provins, capucin, faict en Perse, l'an 1628 » ; Lettre du roi de Perse Cha Abbas à Louis XIII ; « Relation du royaume de Marroque et des villes qui en dépendent » ; Pièces concernant les relations de la France avec Alger, notamment pendant la mission de « Sanson Napolon », 1628-1629 ; Traités avec Alger, 1628 (f. 294), — et 1629 (f. 317 v) ; Traités avec le Maroc, 1630 (f. 324 v), — 1631 (f. 330, etc.), — 1632 (f. 339 v), — et 1635 (f. 341, etc.) ; « Compendio delle varie sette che si trovano fra gli Turchi, authore Mehemet Emin, figliuolo di Sadredin, tradotto di lingua turquesca in vulgare italiano per Yahacob Romano, haebreo Constantinopolitano » ; « Mémorial de l'Estat d'Égipte, en l'an 1634 »

Genetics and the population history of Europe

Analysis of genetic variation among modern individuals is providing insight into prehistoric events. Comparisons of levels and patterns of genetic diversity with the predictions of models based on archeological evidence suggest that the spread of early farmers from the Levant was probably the main episode in the European population history, but that both older and more recent processes have left recognizable traces in the current gene pool.