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The National Institutes of Health Undiagnosed Diseases Program evaluates patients for whom no diagnosis has been discovered despite a comprehensive diagnostic workup. Failure to diagnose a condition may arise from the mutation of genes previously unassociated with disease. However, we hypothesized that this could also co-occur with multiple genetic disorders. Demonstrating a complex syndrome caused […]
…For patients suffering from rare diseases it is often hard to find an expert clinician. Existing registries rely on manual registration procedures and cannot easily be kept up to date. A prototype data collection system for discovering experts on rare diseases using MEDLINE has been successfully deployed. Initial manual analyses demonstrate proof of concept and […]
…Chronic immune-mediated neuropathies represent a heterogeneous group of mostly demyelinating neuropathies thought to be caused by an autoimmune response to peripheral nerve antigens. They include chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) and related variants, multifocal motor neuropathy (MMN) and neuropathy associated with an IgM monoclonal gammopathy with antibody activity against myelin-associated glycoprotein (MAG). Most of these […]
…The European Science Foundation (ESF) in collaboration with the University of Barcelona (UB) brought together leading scientists worldwide for an event that gave new insights into the structural biology, physiology and genetics of ion channels and transporters involved in rare inherited diseases. The meeting took place in San Feliu de Guixols, one of the most […]
…Biobehavioral science explores links between biological, psychosocial, and behavioral factors and health. Maintaining positive health outcomes over time and across a variety of populations and settings requires understanding interactions among biological, behavioral, and social risk factors as well as other variables that influence behavior. Some barriers to biobehavioral research are related to performing biobehavioral research […]
…Background:The Genetic and Rare Disease Information Center (GARD) is a major provider of Web-based information on genetic and rare diseases. Little is known about the type of Web-based information individuals seek about genetic and rare diseases or their reasons for seeking. Objective:The objective of this paper is to describe the types of Web-based information sought […]
…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 […]
…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. […]
…Angiogenesis, the formation of new vessels from pre-existing ones, is essential during ontogenetic development and is related to many important physio-pathological processes in the adult. In fact, a persistent and deregulated angiogenesis is a required event for many diseases and pathological situations, including cancer progression and metastasis. Some rare diseases are also angiogenesis-related pathologies. However, […]
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