Discapacidad
A movement to create a global patient registry for as many as 7,000 rare diseases was launched at a workshop, “Advancing Rare Disease Research: The Intersection of Patient Registries, Biospecimen Repositories, and Clinical Data.” https://rarediseases.info.nih.gov/. The workshop was sponsored by the Office of Rare Diseases Research (ORDR). The focus was the building of an infrastructure […]
…To analyse the validity of diagnosis of aplastic anaemia (AA) by International Classification of Diseases codes in hospital discharge data (MBDS) and the mortality registry (MR) of La Rioja in order to detect cases to be included in the Spanish National Rare Diseases Registry.ICD codes were used to detect AA cases during the period 2007-2012 […]
…Understanding societal preferences regarding resource allocation in the health sector has gained importance as countries increasingly base reimbursement decisions on economic evaluations. Preference elicitation using surveys, a common practice in the health sector, is subject to a range of framing effects.This research investigates the importance of (theoretically relevant) opportunity costs and (theoretically irrelevant) framing effects […]
…In Germany, many highly specialized facilities for the diagnosis and treatment of rare diseases exist. However it is quite difficult for patients to find the required specialists because of the fact that information on the internet is scattered and of variable quality. The German Federal Ministry of Health initiated several activities to address this issue. […]
…The EU LeukoTreat program aims to connect, enlarge and improve existing national databases for leukodystrophies (LDs) and other genetic diseases affecting the white matter of the brain. Ethical issues have been placed high on the agenda by pairing the participating LD expert research teams with experts in medical ethics and LD patient families and associations. […]
…Patients with rare diseases are awaiting an answer to their needs. Traditionally, however, research on rare diseases has been limited by the idea that it was too difficult to do and too little rewarding in terms of return of profit. This attitude has actually changed during the last decade, because it was realized that research […]
…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 […]
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