Resultados de búsqueda por tipo de discapacidad
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Essential thrombocythemia (ET) is a chronic myeloproliferative neoplasm (MPN), characterized by the clonal proliferation of megakaryocytes in the bone marrow and high platelet count in the peripheral blood. ET has been associated with transformation to acute myeloid leukemia, myelodysplastic syndrome, chronic lymphocytic leukemia, and other MPNs, especially primary myelofibrosis. The association between multiple myeloma (MM) […]
…The Urea Cycle Disorders Consortium (UCDC) was created as part of a larger network established by the National Institutes of Health to study rare diseases. This paper reviews the UCDC’s accomplishments over the first 6years, including how the Consortium was developed and organized, clinical research studies initiated, and the importance of creating partnerships with patient […]
…Mucopolysaccharidosis VI is an autosomal recessive lysosomal storage disorder associated with severe disability and premature death. The presence of a mucopolysaccharidosis-like disease in indigenous ethnic groups in Colombia can be inferred from archaeological findings. There are several indigenous patients with mucopolysaccharidosis VI currently receiving enzyme replacement therapy. We discuss the ethical and economic considerations, regarding […]
…In this chapter we discuss several of the most relevant subjects related to ethics on Rare Diseases. Some general aspects are discussed such as the socio-psychological problems that confront the patients and their families that finally lead to marginalization and exclusion of patients affected by these diseases from the health programs, even in wealthy countries. […]
…The EU LeukoTreat program aims to connect, enlarge and improve existing national databases for leukodystrophies (LDs) and other genetic diseases affecting the white matter of the brain. Ethical issues have been placed high on the agenda by pairing the participating LD expert research teams with experts in medical ethics and LD patient families and associations. […]
…Ethical, legal and social implications of rare diseases and orphan drugs in Europe (Brocher symposium) Geneva, Switzerland 18-19 April 2013 As part of the Scientific Program of the Fondation Brocher, a two-day symposium on orphan drugs and rare diseases was held on the shores of Lac Leman in Geneva. Specific focus was on the ethical, […]
…Wolfram, Alstrom and Bardet-Biedl (WABB) syndromes are rare diseases with overlapping features of multiple sensory and metabolic impairments, including diabetes mellitus, which have caused diagnostic confusion. There are as yet no specific treatments available, little or no access to well characterized cohorts of patients, and limited information on the natural history of the diseases. We […]
…National Plans for Rare Diseases (RDs) are the common denominator of current public health policy concerns on RDs across the EU. With the aim of a better distribution of the available resources, they conjugate the European objective that aims at ensuring that patients with RDs have access to high-quality care – including diagnostics, treatment and […]
…Aims:To evaluate the Australian Paediatric Surveillance Unit (APSU). Methods:We used criteria recommended by the Centres for Disease Control and Prevention (CDC) for evaluating surveillance systems and reviewed productivity, response rates, completeness of the mailing list and impacts of APSU studies. Anonymous evaluation questionnaires were sent to 1260 reporting clinicians, 42 researchers and 86 public health […]
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