Suchergebnisse

A large number of papers published in the last decades are related to the effect of ozone exposure on mortality worldwide. Several studies have been performed to investigate the effect of ozone on mortality in Madrid (Spain), but the findings of these local reports were focused only on the Madrid city. The association of daily concentrations of ozone with daily mortality was investigated using autoregressive Poisson regression models. This study explores the effects of ozone on all causes except accidents, cardiovascular and respiratory short-term mortality in two areas of the Madrid region: an urban area constituted by the Madrid municipality and an industrial sub-urban area surrounding the city. Using three years of daily data (2003-2005), it was analyzed the all-ages populations and the over-64 age groups. The average ozone concentrations over the study period were 54.07 ± 27.17 μg/m3 in the Madrid municipality and 70.09 ± 32.96 μg/m3 in the sub-urban municipalities surrounding the city. Our results in the all-ages group indicated that 0.69% of all causes except accidents, 1.15% of cardiovascular and 1.56% of respiratory daily deaths, respectively, could be attributed to exposure to ozone in the Madrid city, whereas 11.69% of daily respiratory deaths were attributable to ozone exposure in the Madrid sub-urban surroundings. Our results show a clear association between mortality and ozone exposure. The spatial heterogeneity of ozone effects on short-term mortality throughout the Madrid region may have implications for local environmental policies and also for social and health services planning. ; This research was funded by the European Commission FP7-ENV project "Health Risk from Environmental Pollution Levels in Urban Systems (HEREPLUS)", contract 212854. We wish give our thanks to the following contributors: the Madrid Community Institute of Statistics for supplying the mortality data; the Madrid Municipality authority and the Madrid Community government for providing the environmental data; the Palynology Network of the Madrid Regional Health Authority for supplying the pollen data and, the National Centre of Epidemiology for providing the influenza data. In addition, we also wish to give our special thanks to Julio Díaz and Cristina Linares for their support in the statistical analysis.

In rare disease (RD) research, there is a huge need to systematically collect biomaterials, phenotypic, and genomic data in a standardized way and to make them findable, accessible, interoperable and reusable (FAIR). RD-Connect is a 6 years global infrastructure project initiated in November 2012 that links genomic data with patient registries, biobanks, and clinical bioinformatics tools to create a central research resource for RDs. Here, we present RD-Connect Registry & Biobank Finder, a tool that helps RD researchers to find RD biobanks and registries and provide information on the availability and accessibility of content in each database. The finder concentrates information that is currently sparse on different repositories (inventories, websites, scientific journals, technical reports, etc.), including aggregated data and metadata from participating databases. Aggregated data provided by the finder, if appropriately checked, can be used by researchers who are trying to estimate the prevalence of a RD, to organize a clinical trial on a RD, or to estimate the volume of patients seen by different clinical centers. The finder is also a portal to other RD-Connect tools, providing a link to the RD-Connect Sample Catalogue, a large inventory of RD biological samples available in participating biobanks for RD research. There are several kinds of users and potential uses for the RD-Connect Registry & Biobank Finder, including researchers collaborating with academia and the industry, dealing with the questions of basic, translational, and/or clinical research. As of November 2017, the finder is populated with aggregated data for 222 registries and 21 biobanks. ; This work has been supported by the European Union Seventh Framework Programme (FP7/20072013) under grant agreements no. 305444 (RD-Connect). RD-Connect has a main role in funding authors contributing to the study design, data collection and analysis, decision to publish, or preparation of the manuscrip. NeurOmics (no. 305121, http://rd-neuromics.eu/) and EURenOmics (no. 305608, http://www.eurenomics.eu/) have had mainly a role of data providers, since several registries participating to the Registry & Biobank Finder collaborate with the two projects. We thank ODEX4all (NWO 650.002.002), ELIXIR funded through participating member states, and ELIXIR-EXCELERATE funded through the European Commission within the Research Infrastructures Programme of Horizon 2020 (grant agreement number 676559) for collaborating to the study design and software development especially with a view to interoperability with other systems (MR, MT). MF and MM are funded by Fondazione Telethon (Project GTB12001; Telethon Network of Genetic Biobanks). ; Sí

Rare diseases (RD) patient registries are powerful instruments that help develop clinical research, facilitate the planning of appropriate clinical trials, improve patient care, and support healthcare management. They constitute a key information system that supports the activities of European Reference Networks (ERNs) on rare diseases. A rapid proliferation of RD registries has occurred during the last years and there is a need to develop guidance for the minimum requirements, recommendations and standards necessary to maintain a high-quality registry. In response to these heterogeneities, in the framework of RD-Connect, a European platform connecting databases, registries, biobanks and clinical bioinformatics for rare disease research, we report on a list of recommendations, developed by a group of experts, including members of patient organizations, to be used as a framework for improving the quality of RD registries. This list includes aspects of governance, Findable, Accessible, Interoperable and Reusable (FAIR) data and information, infrastructure, documentation, training, and quality audit. The list is intended to be used by established as well as new RD registries. Further work includes the development of a toolkit to enable continuous assessment and improvement of their organizational and data quality. ; Supported by the RD-CONNECT: an integrated platform connecting registries, biobanks and clinical bioinformatics for rare disease research, which received funding from the European Union within the framework of FP7 Collaborative projectHEALTH.2012.2.1.1-1-C [Grant agreement number: 305444]. Supported partly also by EuRRECa: European Registries for Rare Endocrine Conditions, which received funding from the European Union within the framework of CHAFEA Health Programme (2014–2020) [Grant agreement number: 777215] and the COST Action CA16210 "Maximising Impact of research in NeuroDevelopmental Disorders". ; Sí