Resultados de búsqueda por tipo de discapacidad
Filtrar por tipo de discapacidad
Idiopathic Hypogonadotropic hypogonadism (IHH) phenotype is variable &various genes have been decribed in association with IHH. We describe association of IHH with mosaic trisomy 13. A 20 year old male presented with lack of development of secondary sexual characters, normal height, micropenis, small testes, gynaecomastia, absence of axillary and pubic hairs, hyposmia, synkinesis, bilateral horizontal […]
…Hereditary hemorrhagic telangiectasia (HHT), a rare autosomal dominant disease, is considered under-diagnosed. Our primary objective was to provide evidence of under-diagnosis of HHT in a North American population. We hypothesized that variation would exist in the diagnosed prevalence (D-prevalence) across regions in the province of Ontario, Canada and across age groups, due to under-diagnosis in […]
…Several examples have always illustrated how access to large numbers of biospecimens and associated data plays a pivotal role in the identification of disease genes and the development of pharmaceuticals. Hence, allowing researchers to access to significant numbers of quality samples and data, genetic biobanks are a powerful tool in basic, translational and clinical research […]
…Rare diseases are a clinically heterogeneous group of about 6.500 disorders, and in fewer than 200.000 individuals in the USA.They are commonly diagnosed during childhood, often inherited, and can have deleterious long-term effects. Although any one condition is rare, their cumulative public health burden is substantial, with 6-8% of people having a rare disease at […]
…The biologically active form of the B6 vitamers is pyridoxal 5′-phosphate (PLP), which plays a coenzymatic role in several distinct enzymatic activities ranging from the synthesis, interconversion and degradation of amino acids to the replenishment of one-carbon units, synthesis and degradation of biogenic amines, synthesis of tetrapyrrolic compounds and metabolism of amino-sugars. In the catalytic […]
…Our objective is to describe the contribution of rare diseases to our understanding of the epidemiology of neurodevelopmental disabilities (NDDs) by comparing and contrasting the epidemiologic features of NDDs classified according to key characteristics of developmental delay or deviance in such areas as behavior or cognition (the phenotypic approach; autism spectrum disorders and intellectual disability […]
…Similar to other orphan diseases, little progress has been made in the past decades in thymic malignancies. A determination to make a difference, despite the challenges facing a rare disease, led to the formation of the International Thymic Malignancies Interest Group (ITMIG) in 2010. This organization has brought together the majority of those focused on […]
…There is a pressing need for new medicines (new molecular entities; NMEs) for rare diseases as few of the 6800 rare diseases (according to the NIH) have approved treatments. Drug discovery strategies for the 102 orphan NMEs approved by the US FDA between 1999 and 2012 were analyzed to learn from past success: 46 NMEs […]
…Patients with suspected or diagnosed rare diseases face challenges. Their own physicians usually do not have a large experience in a particular rare disease, specialists may not be easily accessible, and medical knowledge on rare diseases is either not readily available or too general to be applied to the patients’ individual situations. As a specialist […]
…Rare diseases (RDs), including those of genetic origin, are defined by the European Union (EU) as life-threatening or chronically debilitating diseases, which are of low prevalence (fewer than 5 per 10,000). The specificities of RDs – a limited number of patients and scarcity of relevant knowledge and expertise – single them out as a unique […]
…