Discapacidad
Objetivos. Determinar la prevalencia del dolor neuropático (DN) en una muestra de pacientes con lesión medular (LM), examinar la relación entre las características clínicas, demográficas y psicológicas con la prevalencia del DN después de una LM y a su vez con los diferentes tipos de DN, y estudiar el valor predictivo de los factores más […]
…Escribimos este artículo con el objeto de describir las necesidades psicológiocas detectadas en el trabajo psico-oncológico realizado durante este año con los pacientes diagnosticados de cáncer de pulmón. Esta intervención se mantine a lo largo de su proceso de enfermdad y tratamiento. El diagnóstico de cáncer de pulmón va a cambiar la estructura vital del […]
…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 […]
…Addressing the two most important considerations in designing clinical trials, i.e. maximizing study power and minimizing patient exposure to ineffective treatment, is particularly challenging for trials of rare diseases. The familial Mediterranean fever (FMF) rilonacept trial (Hashkes et al., Ann Intern Med 2012;157:533-41) demonstrates a novel crossover design by enabling patient choice to early escape […]
…The category of ‘rare diseases’ has been in growing use in the fields of public health and patient advocacy for the past 15 years in Europe. In this socio-historical inquiry, I argue that this category, which appeared initially as a by-product of the orphan drug issue in the United States of America, is a boundary […]
…Patients’ representatives have an increasingly present voice in all aspects of drug development from fundamental research through regulatory processes to health technology assessment. Although major advances have been made in raising awareness and increasing funding for rare diseases, important challenges remain in terms of best use of resources, coordinating efforts and improving policy. This article […]
…Juvenile neuronal ceroid lipofuscinosis (JNCL; Batten disease) is a rare, inherited, fatal lysosomal storage childhood disorder. True for many rare diseases, there are no treatments that impact the course of JNCL. The University of Rochester Batten Center’s (URBC) mission is to find treatments to slow, halt, or prevent JNCL.Our initial objective was to develop clinical […]
…The science of measuring patient-reported outcomes (PROs) has advanced substantially in recent decades, allowing evaluation of how patients feel and function in clinical research. Assessment of the patient experience in populations with rare diseases can be successfully achieved using PRO measures when careful planning and rigorous methods are employed. A number of challenges exist when […]
…Clinical trials to evaluate patients affected by rare diseases are often hampered by the difficulty of recruiting a critical sample size. Registries for rare conditions are thus extremely powerful tools for overcoming recruitment problems. Here we present and discuss the international experience with alpha1-antitrypsin deficiency achieved by the Alpha One International Registry, and national experience […]
…The rule of rescue describes the moral impulse to save identifiable lives in immediate danger at any expense. Think of the extremes taken to rescue a small child who has fallen down a well, a woman pinned beneath the rubble of an earthquake, or a submarine crew trapped on the ocean floor. No effort is […]
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