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This article analyses the specific rights of patients with rare diseases from a dual perspective. On the one hand, they concern a new generation of patients’ rights that arise once the consolidation of basic rights has occurred, fundamentally after the application of Law 41/2002 (on Regulating Patient Autonomy and Rights and Obligations in the Field […]
…The rare diseases are a group of diseases which diagnosis, treatement and prevention is a relevant problem all over the world. They are defined on the basis of their very low incidence also if this definition is not equal all over the world. The article offers a review of the national and regional legislation on […]
…Patient registries are important for understanding the causes and origins of rare diseases and estimating their impact; and they may prove critical developing new diagnostics and therapeutics. This paper introduces the [RD] PRISM resource , an NIH-funded project to develop a library of standardized question and answer sets to support rare disease research. The paper […]
…De modo general, las nuevas tecnologías y la evolución de los procedimientos diagnóstico-terapéuticos plantean necesidades de revisión, e incluso cambio de criterios, que no son sólo científicos, sino también éticos. En conjunto, ambas circunstancias requieren un balance responsable, no siempre fácil de encontrar, especialmente durante los primeros años de implantación de una nueva tecnología o […]
…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 […]
…80% of rare diseases have a genetic origin, and 50% manifest themselves as congenital anomalies. Their adequate health care includes early recognition of genetic anomalies and prevention of recurrence.The aims of the authors were to provide correct diagnoses to patients with multiple congenital anomalies with or without mental retardation attending to the outpatient clinic of […]
…Narcolepsy (with or without cataplexy), idiopathic hypersomnia (with or without long sleep duration) and Kleine – Levin syndrome are the main central rare hypersomnias. They may be considered models to help us to better understand the mechanisms controlling sleep and waking regulation in humans. When creating the national centers for rare hypersomnias, the aims were: […]
…The impact and burden of disease of the rare diseases (RD) is not known, also the type of disability that entail. The objective of the work is to analyze the socio-sanitary impact of the RD in Spain.This is a nationwide study. The dimensions used were mobility, personal care and daily activities of the EUROQoL-5D questionnaire […]
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