Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0162871 (abdominal aortic aneurysm)
 8,664 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Primary aortoduodenal fistula is an uncommon cause of massive upper gastrointestinal hemorrhage; it is most commonly caused by the erosion of an abdominal aortic aneurysm into the third portion of the duodenum. This report describes a 73-yr-old man who developed uncontrollable hematemesis due to a primary aortoduodenal fistula in the fourth portion of the duodenum approximately 20 yr after radiotherapy and para-aortic lymph node dissection for seminoma. Surgical and postmortem examination revealed encasement of a normal-size aorta by dense fibrous tissue, ischemic necrosis of the aortic wall, and distinct chronic radiation changes of the duodenum. We propose that radiation may have played a significant role in the pathogenesis of the aortoduodenal fistula in this case. A history of radiotherapy may be relevant in the etiology of massive gastrointestinal bleeding and should prompt rapid attempts at visualization of the distal duodenum if the source of bleeding is unclear.
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PMID:Primary aortoduodenal fistula after radiotherapy. 761 Dec 15

Li-Fraumeni syndrome is an autosomal dominant disorder that is characterized by various types of cancer in childhood and adult cases. Although hereditary TP53 mutation is very rare in different human cancers, it has been frequently reported in Li-Fraumeni syndrome. On the other hand, hereditary mutations of TP57KIP2, P15INK4B, and P16INK4A, which affect the cell cycle similar to TP53, were observed in some types of cancer. In a Turkish family with the diagnosis of Li-Fraumeni syndrome, we analyzed the mutation pattern of TP53, P57KIP2, P15INK4B, and P16INK4A in the peripheral blood, and loss of heterozygosity (homo/hemizygous deletion) pattern of TP53 and P15INK4B/P16INK4A in two tumor tissues. The propositus had a seminoma, his daughter a medulloblastoma, and one of his healthy cousins, a TP53 codon 292 missense point mutation (AAA-->ATA; Lys-->Ile) in the peripheral blood cells. Tumor tissue obtained from the propositus with the seminoma revealed loss of heterozygosity in the TP53 gene. In the analyses of tumor tissues from the propositus and his daughter, a P16INK4A codon 94 missense point mutation (GCG-->GAG; Ala-->Glu) was observed with the hereditary TP53 mutation. P16INK4A codon 94 mutation observed in our family is a novel mutation in Li-Fraumeni syndrome. No other gene alteration in TP53, P57KIP2, P15INK4B, and P16INK4A was observed. Existence of the P16INK4A mutation and the hereditary TP53 mutation with or without loss of heterozygosity in the TP53 gene (seminoma/medulloblastoma) may be evidence for a common mechanism involved in tumorogenesis. The gene alterations in TP53 and P16INK4A genes may be used as tumor markers in our family.
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PMID:Hereditary TP53 codon 292 and somatic P16INK4A codon 94 mutations in a Li-Fraumeni syndrome family. 1572 47