نتایج جستجو برای: familial thoracic 1
تعداد نتایج: 2838295 فیلتر نتایج به سال:
Gene mutations that lead to decreased contraction of vascular smooth-muscle cells (SMCs) can cause inherited thoracic aortic aneurysms and dissections. Exome sequencing of distant relatives affected by thoracic aortic disease and subsequent Sanger sequencing of additional probands with familial thoracic aortic disease identified the same rare variant, PRKG1 c.530G>A (p.Arg177Gln), in four famil...
There are many genetic syndromes associated with the aortic aneurysmal disease which include Marfan syndrome (MFS), Ehlers-Danlos syndrome (EDS), Loeys-Dietz syndrome (LDS), familial thoracic aortic aneurysms and dissections (TAAD), bicuspid aortic valve disease (BAV), and autosomal dominant polycystic kidney disease (ADPKD). In the absence of familial history and other clinical findings, the p...
conclusions this case showed the effect of additional anakinra on children with fmf who were colchicine resistant. case presentation herein was reported a colchicine non-responsive patient with accurate diagnosis and early treatment of fmf. she had presented with recurrent and persistent acute abdominal pain attacks and several abdominal surgeries. addition of recombinant interleukin-1 receptor...
We report an autopsy case of a 35-yr-old man with familial visceral myopathy, a cause of primary intestinal pseudo-obstruction. The patient died from complications of familial visceral myopathy, sepsis, and generalized signet-ring cell carcinomatosis. The patient had massive distension of the large and small intestines, a dilated thickened esophagus, and fibroneoplastic adhesions between intra-...
normal 0 false false false en-us x-none ar-sa microsoftinternetexplorer4 background : pseudohypoaldosteronism type 1 (pha1) is a rare congenital disease of mineralocorticoid resistance which characterized by neonatal renal salt wasting, vomiting, dehydration and failure to thrive. the clinical presentation of the disease represented mostly during neonatal period with a wide spectrum of symptoms...
Marfan syndrome (MFS) is an autosomal dominant disorder of the connective tissue characterized by early development of thoracic aortic aneurysms/dissections together with symptoms of the ocular and skeletal systems. While most patients/families with a classic phenotypic expression of MFS harbour mutations in the gene encoding fibrillin-1 (FBN1), genetic studies of the recent years revealed that...
Study Hypothesis The genetic origins of thoracic aortic aneurysms and dissections (TAAD) are relatively unknown. Twenty percent of cases have similarly affected family members, but genes previously identified for familial TAAD have exhibited reduced penetrance and variable severity. The genes previously implicated in familial TAAD (ACTA2, MYH11, TGFBR1, TGFBR2) have all been found to be involve...
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