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

Two hundred and thirty-nine patients with different rheumatic diseases were investigated for serological markers of hepatitis B virus (HBV) infection. An increased prevalence of anti-HBs was found in patients with systemic lupus erythematosus. The total prevalence of HBV markers in patients with polymyalgia rheumatica, temporal arteritis, juvenile and adult rheumatoid arthritis (RA) and systemic sclerosis was not significantly different from age-matched controls. Remarkably, 6 patients were HBsAg-positive of whom 3 had RA (4%). Two patients with RA were "healthy' HBsAg carriers. The third patient had circulating HBeAg as well and had shown progression from acute hepatitis to cirrhosis during the time of observation. Three of 18 patients with polyarteritis nodosa were HBsAg- and HBeAg-positive, and all 3 were young men. Clinical improvement was seen in one of these patients and was associated with seroconversion from HBeAg to anti-HBe. Our data do not support the theory that HBV is an aetiological factor in rheumatic diseases except in some cases of polyarteritis nodosa.
 ...
PMID:Hepatitis B virus infection in patients with rheumatic diseases. 612 59

A 45-year-old man was hospitalized because of acute hepatitis. His serum cholinesterase (ChE) was below 10 IU/l (normal range: 105-240 IU/l) during the disease course and after his recovery. The patient was suspected of having familial hypocholinesterasemia. His family members were healthy except that his father had hypertension and gall stones. Analysis of ChE gene in the propositus and his family revealed three point mutations at nucleotides 298 (CCA to TCA), 1,410 (CGT to CGG) and 1,615 (GCA to ACA). The first mutation caused an amino acid change at codon 100 from proline to serine, which was a new mutation not previously reported, but the second one was a silent mutation. The third mutation resulted in an amino acid alteration from alanine to threonine at codon 539 in exon 4 of the ChE gene. The mode of transmission of these mutations is described.
 ...
PMID:Familial hypocholinesterasemia found in a family and a new confirmed mutation. 905 91