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Triple-A syndrome or AAA syndrome is a rare autosomal recessive congenital disorder. In most cases, there is no family history of AAA syndrome. [ 2 ] The syndrome was first identified by Jeremy Allgrove and colleagues in 1978; since then just over 100 cases have been reported. [ 3 ]
An AAA usually causes no symptoms, except during rupture. [1] Occasionally, abdominal, back, or leg pain may occur. [2] Large aneurysms can sometimes be felt by pushing on the abdomen. [2] Rupture may result in pain in the abdomen or back, low blood pressure, or loss of consciousness, and often results in death. [1] [6]
An aortic aneurysm is an enlargement (dilatation) of the aorta to greater than 1.5 times normal size. [1] Typically, there are no symptoms except when the aneurysm dissects or ruptures, which causes sudden, severe pain in the abdomen and lower back.
Depending on its location, the unstable trinucleotide repeat may cause defects in a protein encoded by a gene; change the regulation of gene expression; produce a toxic RNA, or lead to production of a toxic protein. [1] [2] In general, the larger the expansion the faster the onset of disease, and the more severe the disease becomes. [1] [2]
Superior mesenteric artery compressing the duodenum, featuring the superior mesenteric artery syndrome. Superior mesenteric artery (SMA) syndrome is a gastro-vascular disorder in which the third and final portion of the duodenum is compressed between the abdominal aorta (AA) and the overlying superior mesenteric artery.
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A trinucleotide repeat expansion, also known as a triplet repeat expansion, is the DNA mutation responsible for causing any type of disorder categorized as a trinucleotide repeat disorder.
Food Network chef Carl Ruiz's cause of death has been revealed. A little less than a month after Ruiz's death at the age of 44 on September 22, a spokesperson for the Maryland Department of Health ...