منابع مشابه
Osteopoikilosis: a rare cause of bone pain
Background: Osteopoikilosis (OPK) is a rare inherited condition of the bones, transmitted as an autosomal dominant trait characterized by numerous hyperostotic areas that tend to localize in periarticular osseous regions. It is usually asymptomatic and is often diagnosed incidentally during x-rays made by other reasons. We present a case of 34-year-old man suffering from polyarthralgia an...
متن کاملIdentifying rare events in rare diseases.
Utilizing genomic signatures from diagnostic tumor samples to forecast clinical behavior and response to therapy has long been a goal, and we are now poised to further refine how we can identify the relatively rare patients with aggressive neuroblastoma masquerading as patients with a more benign form of the disease. Clin Cancer Res; 21(8); 1782-5. ©2014 AACR. See related article by Oberthuer e...
متن کاملEpigenetics in Rare Diseases
By definition, a rare disease is any condition that affects a small percentage of the population. However, the cutoff number for which a disease is considered as rare varies with different regions. In the United States, the cutoff was fewer than 200,000 people [1] and while in Japan, it was fewer than 50,000 [2]. For Europe, rare diseases are life-threatening or chronically debilitating ones in...
متن کامل[Rare diseases in paediatrics].
Few areas of paediatric care are as susceptible to the revision of lines of action, and require such professional training, as the care of the child with a rare disease (RD) and his/her family, especially if there are malformations. The lifelong impact, which many RDs entail, make continuous monitoring of the child compulsory, centred both on the evolutionary aspects of the RD and on the family...
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ژورنال
عنوان ژورنال: EFORT Open Reviews
سال: 2018
ISSN: 2396-7544,2058-5241
DOI: 10.1302/2058-5241.3.170047