cancer, with a high rate of mortalities worldwide, pose a major threat to human health. although family history accounts for at least 5-10% of all cancers, it is conferred to be as a significant risk of developing cancer. recently, application of high speed and low cost high-throughput nucleotide sequencing technologies has provided an opportunity to assess cancer risk in at risk healthy indivi...

Des mutations hétérozygotes du gène COPA, qui code la sous-unité alpha coatomère (COPA), causent une interféronopathie monogénique principalement associée à des atteintes pulmonaire, articulaire et rénale. Le syndrome COPA est maladie auto-inflammatoire rare, caractérisée par expression variable absence de pénétrance fréquemment observée. La quasi-totalité patients ont symptômes pulmonaires, hé...

The objective was to study the clinical features of symptomatic hypertrophic cardiomyopathy (HCM) depending on form (familial / non-familial), age onset and presence arterial hypertension (AH). Methods materials . During 6 years, we examined 250 HCM patients, 100 patients with aged from 18 86 years were included in study. Results Patients manifestations at a young more often had familial diseas...

â â â  â â  abstract: â  china and asean have been maintaining a relationship both cooperative and competitive in the textile trade. due to its labor intensive feature and high dependence on foreign trade , the textile trade has received much attention after the 2008 financial crisis. the customs data (classified by the hs code) from year 2006-2009 is employed to research the impact of the cris...

background: familial chylomicronemia syndrome is a rare disorder of lipoprotein metabolism due to familial lipoprotein lipase or apolipoprotein c-ii deficiency or the presence of inhibitors to lipoprotein lipase. it manifests as eruptive xanthomas, acute pancreatitis, and lipaemic plasma due to marked elevation of triglyceride and chylomicrons levels. case presentation: we report a rare case of...

intraepiphyseal location of an osteoid osteoma is extremely rare with few cases reported in the literature. they are often present with various atypical and nonspecific clinical features. synovitis of adjacent joint is common and along with chronic inflammation could be misinterpreted as rheumatoid arthritis. initial plain radiographs are often not diagnostic and further radiologic evaluation w...

BACKGROUND Calcaneus has the most fracture prevalence among tarsal bones. About 3/4 of calcaneal fractures are intra-articular fractures with displacement. The majority of calcaneal fractures occur in 21 - 35 year old young men, and that are mostly active people, these fractures cause complete disability for 15 months. Moreover, inappropriate treatment leads to lots of social and economical dam...

normal 0 false false false en-us x-none ar-sa microsoftinternetexplorer4 colorectal cancer is classified in to three forms: sporadic (70-75%), familial (20-25%) and hereditary (5-10%). hereditary colorectal cancer syndromes classified into two different subtypes: polyposis and non polyposis. familial adenomatous polyposis (fap; omim #175100) is the most common polyposis syndrome, account for <1...

familial hypercholesterolemia (fh) is an inherited common autosomal mendelian disorder of lipoprotein metabolism with a population prevalence of 1 in 500. fh is characterized by severely elevated levels of low-density lipoprotein cholesterol (ldl-c), which result in surplus deposition of cholesterol in tissues. this condition leads to premature at hero sclerosis and early-onset of coronary hear...