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The conventional criteria for evaluating genetic tests include analytic validity, clinical validity, and clinical utility. Analytical validity refers to a test’s ability to measure the genotype of interest accurately and reliably. Clinical validity refers to a test’s ability to detect or predict the clinical disorder or phenotype associated with the genotype. Clinical utility of a […]
…Doubts have been expressed about whether standard methods of health technology assessment are suitable for the evaluation of drugs for rare diseases. Under conditions of rarity, it may be more difficult to conduct large randomized trials in order to gather adequate evidence on efficacy, and the standard methods of economic evaluation may not adequately reflect […]
…This chapter discusses the meaning of evidence-based medicine and where it relates to randomised controlled trials, but also where it does not. The need for good quality evidence is stressed through a discussion of high failure rates in drug development and arguments against access to unlicensed (and largely untested) treatments are set out (despite the […]
…The randomized, controlled trial (RCT) is the “gold standard” for establishing the effect of any intervention. This approach, however, is often not feasible with rare diseases such as cutaneous T-cell lymphoma.We review the principles of evidence-based medicine to see which are particularly pertinent to the study of rare diseases.When an RCT is not feasible, attention […]
…Two years ago, NIH’s Undiagnosed Diseases Program began delivering genomics to the clinic on an unprecedented scale. Now, with 128 exomes sequenced and 39 rare diseases diagnosed, the program’s success is paving the way for widespread personal genomics while pioneering new techniques for reigning in the “tsunami” of genomics data. Resumen realizado por los autores […]
…The human immune system depends on the activity of cytotoxic T lymphocytes (CTL), natural killer (NK) cells, and NKT cells in order to fight off a viral infection. Understanding the molecular mechanisms during this process and the role of individual proteins was greatly improved by the study of familial hemophagocytic lymphohistiocytosis (FHL). Since 1999, genetic […]
…Background:The web has become a primary information resource about illnesses and treatments for both medical and non-medical users. Standard web search is by far the most common interface to this information. It is therefore of interest to find out how well web search engines work for diagnostic queries and what factors contribute to successes and […]
…This article is about the justifiability of accepting worse cost effectiveness for orphan drugs, that is, treatments for rare diseases, in a publicly financed health care system. Recently, three arguments have been presented that may be used in favour of exceptionally advantageous economic terms for orphan drugs. These arguments share the common feature of all […]
…In the era of data sharing and systems interoperability, the automation of data schema alignment has become a priority. Discovering data mappings is the aim of many alignment approaches that have been described in the literature and the effectiveness of which depends on data specifications. In this context, we propose a method for mappings formalization […]
…Manufacturers justify the high prices for orphan drugs on the basis that the associated R&D costs must be spread over few patients. The proliferation of these drugs in the last three decades, combined with high prices commonly in excess ofThis article explores the use of a cost-based price control mechanism for orphan drugs, adapted from […]
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