نتایج جستجو برای: hereditary non
تعداد نتایج: 1390343 فیلتر نتایج به سال:
BACKGROUND Lithogenic bile is the major cause of cholesterol gallstone, but its pathogenesis is not well understood. The hypersecretion of biliary cholesterol is believed to be an important cause of lithogenic bile. Sterol Carrier Protein 2 (SCP2) participates in cholesterol trafficking and lipid metabolism in hepatocytes and may play a key role in cholesterol gallstone formation. METHODS 21 ...
abstract background: hereditary red cell enzyme disorders are a group of non-immune/spherocytic hemolytic anemia, although these disorders are rare and they have not public health problems, the detection of these defects could help to physician in treatment and differential diagnosis. this study evaluated 5 enzymopathies in patients with hereditary non –immune/spherocytic hemolytic anemia (hnsh...
U pper urinary tract transitional cell carcinoma (UUTTCC) accounts for 5% of all urothelial carcinomas. Hereditary non-polyposis colorectal cancer (HNPCC) is an autosomal dominant syndrome predisposing to colorectal cancer that accounts for about 5% of all colorectal cancers. It is revealed by colorectal cancer (63%) or extracolonic cancers, most often of the endometrium (9%) or ovary, but some...
Retinoblastoma is a rare type of eye cancer that usually occurs in early childhood, usually before the age of five. This type of cancer occurs in the retina, the light-sensitive tissue behind the eye that recognizes light and color. It is the most common type of eye cancer in children. One-third of all retinoblastomas are inherited, meaning that mutations in the RB1 gene are present in all cell...
The prevalence of non-hereditary angioedema was investigated in a general population sample (n = 7,931) and in a sample of Danish patients (n = 7,433) tested for deficiency of functional complement C(1) esterase inhibitor protein (functional C(1) INH). The general population sample (44% response rate) reported a lifetime prevalence of 7.4% for angioedema. In both groups symptoms were most frequ...
This is an autosomal dominant highly penetrant cancer-susceptibility syndrome causedby germline mutations inone oftheDNAmismatch repair genes, MLH1, MSH2, MSH6, PMS2 and PMS 1. Affected individuals have apredispositionto developing early onset colorectal cancer and endometrial cancer, and less commonly ovarian, small intestine, stomach, biliary tract, pancreatic, brain and uroepithelial tract c...
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