Discapacidad
In the era of data sharing and systems interoperability, the automation of data schema alignment has become a priority. Discovering data mappings is the aim of many alignment approaches that have been described in the literature and the effectiveness of which depends on data specifications. In this context, we propose a method for mappings formalization […]
…Fundamento: En el caso de las enfermedades raras existen dificultades para utilizar herramientas como los registros de enfermeda des. El objetivo de este trabajo es describir la situación de los registros sobre enfermedades raras en España. Métodos: Se utiliza la información proporcionada por dos directorios de registros sanitarios españoles elaborados por la Agencia Española de […]
…Background:Disease registries are an important source of information on the natural history of rare diseases and the response to new therapies in a real-world setting. The value of the information, however, is directly related to the completeness of the data entered for each patient over the course of time. The Fabry Outcome Survey (FOS) is […]
…Patients living with rare diseases have special common needs. Although the 5,000-6,000 rare diseases are very different, many patients share the experience of a time-consuming and sometimes frustrating journey towards diagnosis, the lack of established standards of care and foremost the search for competent physicians. Because of their complexity, rare diseases mostly demand an interdisciplinary […]
…The Cryopyrin-Associated Periodic Syndromes (CAPS) are a group of rare hereditary autoinflammatory diseases and encompass Familial Cold Autoinflammatory Syndrome (FCAS), Muckle-Wells Syndrome (MWS), and Neonatal Onset Multisystem Inflammatory Disease (NOMID). Canakinumab is a monoclonal antibody directed against IL-1 beta and approved for CAPS patients but requires post-approval monitoring due to low and short exposures during […]
…The European Union (EU) policy for healthcare requires the establishment of a system of European Reference Networks, union-wide information databases, and registries for rare diseases (RDs) based on shared criteria. In pursuing its goals, the ‘Building Consensus and Synergies for the EU Registration of RD Patients in Europe’ (EPIRARE) project convened a meeting with experts […]
…For rare diseases, clinical and epidemiological research suffers from very small numbers of cases. A comprehensive collection of data and information in registries is an essential precondition to improve this situation. To this end, a number of disease specific networks have started collecting data with support from the German Ministry of Research. The past experiences […]
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