European Monitoring of Congenital Anomalies: JRC-EUROCAT Report on Statistical Monitoring of Congenital Anomalies (2006 – 2015)

Worldwide, congenital anomalies are a leading cause of fetal death, infant mortality and morbidity in childhood. Of the 5.2 million births in the European Union (EU) each year, approximately 104,000 (2.5%) will be born with congenital anomalies. EUROCAT is a European network of population-based registries whose objectives are to provide essential epidemiologic information on congenital anomalies in Europe, to facilitate the early warning of new teratogenic exposures and to evaluate the effectiveness of primary prevention. Each year, EUROCAT performs statistical monitoring for both trends and clusters in time on 82 anomaly subgroups. Statistical monitoring relates to two of EUROCAT’s objectives: to provide essential epidemiologic information on congenital anomalies in Europe and to co-ordinate the detection of, and response to, clusters and early warning of teratogenic exposures. The results of the statistical monitoring are the basis for possible further investigations at the local registry level. In 2015 the Central Registry of EUROCAT was transferred from the University of Ulster to the JRC, and became part of the European Platform on Rare Diseases Registration. This is the first time the statistical monitoring has been performed by the JRC-EUROCAT Central registry. We report here the results of the monitoring performed on data for the birth years 2006-2015. Cases of congenital anomaly among livebirths, fetal deaths from 20 weeks gestational age and terminations of pregnancy for fetal anomaly (TOPFA) at any gestation were included. We report both the statistical results and, where available, the outcome of preliminary investigations conducted by registries. For each anomaly, the trends in prevalence in each registry are shown and in addition the overall pan-European prevalence by single year of birth. Some congenital anomalies take a while to be reported; therefore the prevalence in the latest data is often underreported. Presenting the overall pan-European prevalence by single year allows for the influence of the most recent data (2015) to be evaluated.JRC.F.1-Health in Societ

Transfer of the central database and coordinating activities of EUROCAT to the JRC

In the framework of implementing European Commission's strategy in the field of rare diseases, the Directorate-General Joint Research Centre (DG JRC) and the Directorate-General for Health and Food Safety (DG SANTE) signed in December 2013 the Administrative Arrangement (AA) on the "Development and Maintenance of the European Platform on Rare Diseases Registration". One objective of the AA is the transfer of the European-level coordination activities of EUROCAT to the JRC. EUROCAT is a network of 55 population-based registries in 33 countries acting in the epidemiological surveillance of congenital anomalies. It covers 1/3 of the European birth population which corresponds to more than 1.7 million births/year. The EUROCAT central database contains half a million cases of children with congenital anomalies. This data enables provision of prevalence, prenatal diagnosis and perinatal mortality data, detection of teratogenic exposures among others. It develops recommendations considered for primary prevention in the Rare Diseases National Plans for medicinal drugs, food/nutrition, lifestyle, health services, environmental pollution. These results are highly relevant for European public health and may require public health action. In order to offer a sustainable solution for the continuation of EUROCAT activities, to secure the results of former work and to keep the system functioning, it was agreed that EUROCAT becomes part of the European Platform on Rare Diseases Registration, since the diseases/conditions the network is dealing with belong to the category 'rare'. This report presents the preparation phase, the negotiations and the procedures carried out for the effective transfer of the EUROCAT Central Registry including the central database and the coordinating activities to the JRC. The different types of activities and the involvement of different services (legal, IT, information security, procurement) in a concerted action are detailed. The establishment of the new JRC-EUROCAT Central Registry (CR) located at the JRC, Directorate F – Health, Consumers and Reference Materials, Health in Society Unit (former Institute for Health and Consumers Protection, Public Health Policy Support Unit) since 1st of January 2015 corresponds to the "data repository" function of the Rare Diseases Platform. The CR activities including collection of data from the registries, data management, communication with the registries, production of dissemination materials, management of the website are described. In addition, the role and functioning of the new joint JRC-EUROCAT Management Committee and JRC's role in supporting also other activities of the network (meetings of Registry Leaders, Coding Committee, Working Groups, etc.) are presented. The accomplishment of the transfer is a milestone in the development of the European Platform on Rare Diseases Registration.JRC.F.1-Health in Societ

Surveillance of Cerebral Palsy in Europe: Development of the JRC-SCPE Central Database and Public Health Indicators

The Surveillance of Cerebral Palsy in Europe (SCPE) network was established in 1998, bringing together professionals and researchers working in population-based registries of children with Cerebral Palsy (CP) across Europe. The aims of the network are to collect population data on CP to inform and improve understanding of the disease, to raise standards of care for children with CP, disseminate knowledge for patients, health care professionals and key stakeholders, and to provide a framework for collaborative research. In 2016, to provide sustainability for this very important network, the SCPE Central Registry and European level coordination activities were transferred to the JRC and became part of the European Platform for Rare Diseases Registration. The SCPE Central Database is annually updated with new cases submitted by the SCPE Registries. In line with the mission of the JRC for providing evidence-based policy support, and in order to extend the use of the SCPE Central database to public health relevant outputs, the JRC-SCPE Central Registry launched the initiative of developing public health indicators. The public health indicators have been developed by based on collaboration between the JRC and the University Hospital of Toulouse. The input for the calculations of these indicators is based on data included in the standard SCPE dataset and collected annually by the registries in the JRC-SCPE Central Database. The current report describes the development of the JRC-SCPE Central Database after the transfer from the University of Grenoble, and the definition of a first set of key health indicators.JRC.F.1-Health in Societ

Three new bricks in the wall: Berkeley 23, Berkeley 31, and King 8

A comprehensive census of Galactic open cluster properties places unique constraints on the Galactic disc structure and evolution. In this framework we investigate the evolutionary status of three poorly-studied open clusters, Berkeley 31, Berkeley 23 and King 8, all located in the Galactic anti-centre direction. To this aim, we make use of deep LBT observations, reaching more than 6 mag below the main sequence Turn- Off. To determine the cluster parameters, namely age, metallicity, distance, reddening and binary fraction, we compare the observational colour-magnitude diagrams (CMDs) with a library of synthetic CMDs generated with different evolutionary sets (Padova, FRANEC and FST) and metallicities. We find that Berkeley 31 is relatively old, with an age between 2.3 and 2.9 Gyr, and rather high above the Galactic plane, at about 700 pc. Berkeley 23 and King 8 are younger, with best fitting ages in the range 1.1-1.3 Gyr and 0.8-1.3 Gyr, respectively. The position above the Galactic plane is about 500- 600 pc for the former, and 200 pc for the latter. Although a spectroscopic confirmation is needed, our analysis suggests a sub-solar metallicity for all three clusters.Comment: 17 Pages, Accepted for publication in MNRA

EUROCAT - Surveillance of congenital anomalies in Europe: epidemiology of Down syndrome 1990 - 2014

Down syndrome accounts for 8% of all congenital anomalies. It is related to maternal age, which generally increased in Europe during the study period, with large differences in European regions. The analysis of data from the JRC-EUROCAT Central registry shows that the total prevalence of Down syndrome for 10 000 births increased from 16 in 1990 to 23 in 2015. The prenatal detection increased from 49% in 2005 to about 70 % in 2015, but territorial differences between countries and regions exist.JRC.F.1 - Health in Societ

European Monitoring of Congenital Anomalies: JRC-EUROCAT Report on Statistical Monitoring of Congenital Anomalies (2008 - 2017)

Worldwide, congenital anomalies are a leading cause of fetal death, infant mortality and morbidity in childhood. According to the EUROCAT estimates, of the 5.1 million births in the European Union (EU) each year approximately 127,000 (2.5%) have a congenital anomaly. EUROCAT is a European network of population-based registries whose objectives are to provide essential epidemiologic information on congenital anomalies in Europe, to facilitate the early warning of new teratogenic exposures and to evaluate the effectiveness of primary prevention. Each year, EUROCAT performs statistical monitoring for both trends and clusters in time on 84 anomaly subgroups. The results of the statistical monitoring are the basis for instigating possible further investigations at the local registry level. The present report shows the results of the monitoring performed on data for the birth years 2008-2017 by the JRC-EUROCAT Central Registry. Cases of congenital anomaly among livebirths, fetal deaths from 20 weeks gestational age and terminations of pregnancy for fetal anomaly following prenatal diagnosis at any gestational age were included. We report both the statistical results and, where available, the outcome of the preliminary investigations conducted by registries.JRC.F.1-Health in Societ

Bridges in small basins with intense sediment transport and debris flow

In Italy a significant part of the bridge collapses are due to hydraulic causes. Despite this, the Italian technical construction standards NTC 2018 provide few indications about the design and verification criteria of bridges with respect to river processes. In 2022, a working group on the "Hydraulic Compatibility of Bridges" (sites.google.com/view/gii-ponti) was set up within the Italian Group of Hydraulics (GII - Gruppo Italiano di Idraulica), with the aim of formulating proposals for good practices and guidelines for assessing the bridge hydraulic compatibility, as a basis for both bridge safety and flood risk analysis. The working subgroup on "small basins" aims to provide analysis tools for small river basins: they have peculiar features, requiring the adoption of appropriate criteria for the analysis of forcing scenarios and safety measures to be implemented for the hydraulic compatibility of river-crossing bridges. Particular attention is devoted to climatic changes that, although gradual, can induce strongly non-linear responses. The present manuscript reviews the current best practice for analyzing the hydrologic response, the sediment balance, the flow propagation and the dynamic impact force against bridges in the case of mountain basins, pointing out limitations and possible future developments required in order to develop guidelines for bridge safety and flood hazard assessment