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Rare diseases are a real public health problem for hospitals and also for primary care. We describe some metaphor-based diagnosis procedures, such as: “When you hear hoof beats don’t always think horses, sometimes they could be zebras”, or that one about the antiquarian who recognised a museum masterpiece while walking in the Rastro (Madrid). The […]
…Interest in rare diseases research and orphan drugs development has been increased distinctly in recent years. The number of affected people with rare diseases is considerable around the world and the formulation of national and international incentive policies to accelerate orphan drugs development, aiming at offering facilities and necessary conditions for patient access to treatment, […]
…Presentación del modelo de la fundación de enfermedades raras de Francia.
…The long diagnostic delay is a characteristic problem of rare disease patients.Diagnostic delay was studied in 14 countries by EurordisCare2 involving patient organizations.252 Hungarian patients (cystic fibrosis; Duchenne muscular dystrophy; tuberous sclerosis, retinitis pigmentosa, and Williams’ syndrome) completed the questionnaires.The median delay was longer in Hungary than in Europe (cystic fibrosis: 227 vs. 45 days; […]
…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 […]
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