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)

Thirty-one individuals from 18 unrelated families with antithrombin deficiency have been identified as having a single point mutation within codon 384 (13268 GCA-->TCA) resulting in an alanine to serine substitution. Six families (11 individuals) were identified by the screening of individuals with thromboembolic disease or with a family history of thromboembolic disease, whilst the remaining 12 families (20 individuals) were identified by screening of asymptomatic blood donors. Four individuals had a history of venous thrombotic disease, a further 2 gave a history of superficial thrombophlebitis but the remaining 25 individuals were asymptomatic. Affected individuals demonstrated normal immunological levels of antithrombin but a decrease in anti-IIa activity in the presence of heparin. Haplotype analysis was used to examine the possibility of a founder effect to explain the high frequency of this non-CpG mutation. 29/31 individuals showed a single common "core" haplotype, the only variation existing in the number of copies of an (ATT)n repeat polymorphism--13, 14, 15 or 17. The results suggest that at most there are four independent origins for this mutation.
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PMID:Antithrombin cambridge II (Ala384Ser): clinical, functional and haplotype analysis of 18 families. 949 70

There are increasing data demonstrating the role of flourodeoxyglucose positron emission tomography with computerized tomography fusion ((18)FDG PET-CT) in the diagnosis of large vessel vasculitides, including Takayasu arteritis and giant cell arteritis (Hara et al. 1999; Blockmans et al. 1999; Turlakow et al. 2001]. We report a case of large vessel giant cell arteritis involving the major branches of the aorta as detected on (18)FDG PET-CT. A 56-year-old woman returning to the USA after visiting her native Iraq presented to our rheumatology department with fever of unknown origin (FUO) of 2-month duration, night sweats, and arthralgias. The patient did not have claudication; systolic blood pressure measurements demonstrated a 20-mmHg difference between her arms. Infectious disease, malignancy, and collagen vascular disease workup was unrevealing. Temporal artery and bone marrow biopsies were negative. To exclude FUO of malignancy, (18)FDG PET-CT imaging was performed. The images demonstrated significant (18)FDG uptake (indicating increased metabolic activity) in a circumferential fashion along the aorta and its major braches, including the carotid, subclavian, and common iliac arteries. Contrast-enhanced CT imaging demonstrated wall thickening involving these vessels along with left subclavian vein thrombosis and findings consistent with superficial thrombophlebitis involving the right forearm, wrist, and hand. The combination of laboratory and imaging findings, including the characteristic inflammatory changes involving the large vessel walls as seen on CT, as well as the vessel wall hypermetabolism on FDG PET indicating active inflammation, resulted in the diagnosis of large vessel giant cell arteritis. The patient was treated with high-dose corticosteroids followed by a course of Immuran. Her symptoms resolved and a follow-up FDG PET-CT showed complete resolution of the large vessel hypermetabolism. (18)F-FDG PET-CT can be a useful and noninvasive tool in diagnostic evaluation of FUO by excluding a malignant etiology and providing unexpected information that aids in correct diagnosis.
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PMID:PET-CT findings in large vessel vasculitis presenting as FUO, a case report. 1924 71