Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0039483 (giant cell arteritis)
 3,204 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Out of 110 cases of fever of unknown origin (FUO) that met Petersdorf and Beeson's criteria 15 patients were selected because of prolonged FUO with more than six months elapsed between admission and the final diagnosis. In this group of chronic FUO an etiological diagnosis was reached in 11 cases, distributed as follows: four cases with infections (two with toxoplasmosis, one with brucellosis, and another with a brain abscess); one with colon carcinoma; two with collagen-vascular diseases (systemic lupus erythematosus, temporal arteritis); and four with different diseases (two with familial mediterranean fever, one with idiopathic granulomatous disease, and another with factitious fever). In four cases no cause for the FUO could be determined. The procedures used to obtain the diagnosis were non-invasive in five cases (clinical course and serological tests), and invasive in another five (angiography, biopsies, and exploratory laparotomy). In one case the ethology could only be ascertained at autopsy. In the FUO with a prolonged course the peculiar etiological spectrum, the lesser yield of invasive procedures, and a mortality inferior to that of FUO in general all deserve special emphasis.
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PMID:[Fever of unknown origin with a prolonged course (author's transl)]. 724 70

We examined cDNAs of the catalytic subunit of DNA polymerase alpha (185 kDa), the 70 kDa subunit of replication protein A (single-stranded DNA-binding protein) and the 140 kDa subunit of replication factor C for mutations. Surgical specimens from 12 patients with sporadic colon cancer and normal mucosae from the same patients were investigated. In addition, we analyzed 3 human colon cancer cell lines that exhibited defects in mismatch repair (DLD-1, HCT116, SW48) and 3 colon cancer cell lines without such a defect (HT29, SW480 and SW620). For detection of mutations, we used reverse transcription of mRNA, amplification of cDNAs by PCR, analysis of single-strand conformation polymorphism and DNA sequencing. Eleven colon cancers and 6 colon cancer cell lines were analyzed for DNA polymerase alpha. Only 2 silent point mutations were detected, in 1 colon carcinoma and in cell line HCT116. Two sequence alterations of the 70 kDa subunit of replication factor A were identified in 15 specimens (9 colon carcinomas and 6 cell lines). Colon carcinomas from 2 patients (CC5MA and CC25HN) exhibited an ACA-->GCA transition in codon 351, which caused a Thr-->Ala exchange. In carcinomas CC5MA and CC8MA, a TCC-->TCT (Ser-->Ser) transition in codon 352 was observed. The deviations in codons 351 and 352 occurred in both cancer tissues and normal mucosae, suggesting a genetic polymorphism. No mutation was found in the 140 kDa subunit of replication factor C from 16 specimens (10 tumors and 6 cell lines). Point mutations were identified in the p53 tumor-suppressor gene in 4 of the 6 colon cancer cell lines and 3 of the 8 carcinoma specimens. We did not find tumor-associated DNA sequence alterations that resulted in amino acid changes in the DNA replication genes analyzed. We infer that the scarcity of mutations found is due to stringent selection, eliminating functionally impaired replication proteins.
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PMID:Mutation analysis of replicative genes encoding the large subunits of DNA polymerase alpha and replication factors A and C in human sporadic colorectal cancers. 1076 Aug 17