Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: EC:3.1.30.2 (endonuclease)
 18,621 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The clinical findings relating to 11 patients in Hong Kong (HK) and to 43 patients described elsewhere, all with Streptococcus zooepidemicus septicaemia, are reviewed. There was a particular association with cardiovascular disease (27%) with seven cases of endocarditis, three of abdominal aortic aneurysm and two of deep venous thrombosis. Associations not previously reported included two cases of pharyngitis and two patients with persistent post-operative fever. The overall mortality was 22%. Both human and porcine strains of S. zooepidemicus from HK did not hydrolyse aesculin in contrast to the aesculin-positive biotypes reported previously. HK strains also had very mucoid colonies and capsules of hyaluronic acid were seen in electron micrographs. Samples of chromosomal DNA, extracted by means of HindIII restriction endonuclease, of strains from human beings and pigs were identical. The MIC of penicillin for all strains was less than or equal to 0.03 mg/l but the MBC for all was greater than 32 mg/l. Penicillin alone is generally sufficient for cure but combination with an aminoglycoside may be indicated in seriously ill patients. In our locality, pigs were incriminated as a possible source of human infection whereas consumption of contaminated dairy products is important elsewhere.
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PMID:Streptococcus zooepidemicus (Lancefield group C) septicaemia in Hong Kong. 227 71

The G20210A mutation variant of prothrombin gene is the second most frequent mutation identified in patients with deep venous thrombosis, after factor V Leiden. The risk for developing deep venous thrombosis is high in patients identified as heterozygous for G20210A mutation. In order to identify this polymorphism in the gene coding prothrombin, the 345bp fragment in the 3'- untranslated region of the prothrombin gene was amplified using amplification by polymerase chain reaction and enzymatic digestion by HindIII (restriction endonuclease enzyme). The products of amplification and enzymatic's digestion were analized using agarose gel electrophoresis. We investigated 20 patients with venous leg ulcers and we found 2 heterozygous (10%) for G20210A mutation. None of the patients in the control group had G20210A mutation. Our study confirms the presence of G20210A mutation in the Romanian population. Our study also shows the link between venous leg ulcers and this polymorphism in the prothrombin gene.
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PMID:G20210A prothrombin gene mutation identified in patients with venous leg ulcers. 1206 73

Deep vein thrombosis (DVT) is a life-threatening disease. Warfarin and acenocoumarol are anticoagulants used to treat DVT and vary among individuals in terms of treatment response/toxicity. Single nucleotide polymorphisms (SNPs) in CYP2C9 and VKORC1 play a role in the pharmacokinetics and dynamics of warfarin and acenocoumarol and they determine the efficacy of treatment by controlling drug clearance in treated individuals. The aim of the current study was to genotype the critical SNPs of CYP2C9 and VKORC1 genes in a south Indian population in order to understand the metabolizer phenotype of patients with DVT. CYP2C9 (rs1799853, rs1057910, rs1057909, rs28371686) and VKORC1 (rs9923231) SNPs were genotyped in 124 cases of DVT. Genomic regions of these SNPs from genomic DNA were amplified with PCR and directly sequenced using Sanger sequencing except for the SNP rs1799853, which was detected using Sau96I restriction endonuclease-based digestion of variant alleles. Among south Indian patients with DVT, 6.5% (8/124) had the rs1799853 SNP of CYP2C9 and 11% (14/124) had the rs1057910 SNP while 16% (20/124) had the rs9923231 SNP of VKORC1 which were associated with the response to warfarin treatment. None of the patients tested positive for poor drug metabolizing genotypes of the CYP2C9 gene and only 1.6% of the south Indian population was sensitive to warfarin treatment. Genotyping results suggest that a relatively greater amount of the therapeutic drug is required to achieve/maintain the international normalized ratio (INR) in south Indian patients with DVT.
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PMID:Genotyping of CYP2C9 and VKORC1 polymorphisms predicts south Indian patients with deep vein thrombosis as fast metabolizers of warfarin/acenocoumarin. 2886 52