Resultados de búsqueda por tipo de discapacidad
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Gene therapy has shown clinical efficacy for several rare diseases, using different approaches and vectors. The Gene Therapy for Rare Diseases workshop, sponsored by the National Institutes of Health (NIH) Office of Biotechnology Activities and Office of Rare Diseases Research, brought together investigators from different disciplines to discuss the challenges and opportunities for advancing the […]
…Rare diseases are a serious public health problem and are a threat to the health of EU citizens. Important role in the area of rare diseases have the medical specialists who diagnose and monitor the course of the disease of each patient. General practitioners (GPs) are usually the first to identify “unusual” patients that might […]
…Arterial calcification significantly contributes to morbidity and mortality. Insight into the pathophysiological mechanisms contributing to arterial calcification has come from genetic studies on four rare monogenic disorders. The disease-causing molecular defects in generalized arterial calcification of infancy (GACI), pseudoxanthoma elasticum (PXE), calcification of joints and arteries (CALJA), and familial idiopathic basal ganglia calcification (IBGC) have […]
…Inherited diseases are the result of DNA sequence changes. In recessive diseases, the clinical phenotype results from the combined functional effects of variants in both copies of the gene. In some diseases there is often considerable variability of clinical presentation or disease severity, which may be predicted by the genotype. Additional effects may be triggered […]
…Drug trials in children engage with many ethical issues, from drug-related safety concerns to communication with patients and parents, and recruitment and informed consent procedures. This paper addresses the field of neuromuscular disorders where the possibility of genetic, mutation-specific treatments, has added new complexity. Not only must trial design address issues of equity of access, […]
…As part of a health technology assessment, economic evaluation of health technologies for rare diseases poses specific challenges given that such technologies are rarely cost-effective. Therefore, conventional economic evaluation techniques appear to be less relevant to health technologies for rare diseases. However, the definition of health technology assessment points to multi-criteria decision analysis by stating […]
…The apical membrane of the hepatocyte fulfils a unique function in the formation of primary bile. For all important biliary constituents a primary active transporter is present that extrudes or translocates its substrate toward the canalicular lumen. Most of these transporters are ATP-binding cassette (ABC) transporters. Two types of transporters can be recognized: those having […]
…Histamine is a biogenic amine performing pleiotropic effects in humans, involving tasks within the immune and neuroendocrine systems, neurotransmission, gastric secretion, cell life and death, and development. It is the product of the histidine decarboxylase activity, and its effects are mainly mediated through four different G-protein coupled receptors. Thus, histamine-related effects are the results of […]
…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 […]
…Empirical research shows that patients with severe illnesses prefer the physician to dominate decision processes and provide the information needed. However, in rare diseases, due to the low prevalence and the lack of expertise, the patient is forced to become knowledgeable about his own disease state. Objectives of this study were to describe the experiences […]
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