Clinical and genotypic analysis of two Chinese pedigrees affected with hereditary coagulable factor VII deficiency / 中华医学遗传学杂志

OBJECTIVE@#To explore molecular etiology and clinical characteristics of two pedigrees affected with hereditary factor VII(FVII) deficiency.@*METHODS@#The nine exons and flanking sequences of the F7 gene of the probands were amplified by PCR. The amplicons were analyzed by direct sequencing. Suspected mutations were subjected to SWISS-MODEL modeling and analysis of protein structure change by Pymol software and conservation of amino acids across various species.@*RESULTS@#For proband of pedigree 1, the prothrombin time (PT), FVII activity (FVII:C) and FVII antigen (FVII:Ag) were 36.3 s, 3%, 53.56%, respectively. Sequencing revealed a compound heterozygous variants of c.80_81delCT and c.1371G>T(p.Arg439Ser). His son carried a heterozygous c.1371G>T (p.Arg439Ser) variant. For proband of pedigree 2, the PT, FVII:C and FVII:Ag were 22.3 s, 4%, 1.58%, respectively. Sequencing has revealed a compound heterozygous c.278G>T(p.Arg75Met) missense variant in exon 3 and c.1278T>G (p.His408Gln) in exon 9 of the F7 gene. His mother and son both carried a heterozygous c.278G>T(p.Arg75Met) variant. Three-dimensional simulation and homology analysis revealed that the p.Arg439Ser and p.Arg75Met can respectively alter part of hydrogen bonds and two highly conserved amino acids.@*CONCLUSION@#Two novel heterozygous missense variants of the F7 gene [c.1371G>T(p.Arg439Ser) and c.278G>T(p.Arg75Met)] probably account for the decrease of factor VII in the two pedigrees.

Antimicrobial Resistance of Enterococcus Faecalis and Enterococcus Faecium from 2006 to 2008 in Our Hospital / 中国药房

OBJECTIVE:To monitor the antimicrobial resistance of Enterococcus faecalis and Enterococcus faecium in our hospital from 2006 to 2008 in order to provide reference for clinical rational use of antibiotics.METHODS:The susceptibility of isolated enterococci was determined by K-B paper diffusion method,and the antibiotic resistance rates of Enterococcus faecalis and Enterococcus Faecium were analyzed using Whonet 5 software.RESULTS:Vancomycin was the most sensitive antimicrobial against Enterococcus faecalis and Enterococcus faecium.E.faecalis had low resistance rates to penicillin G,high concentration gentamicin,ciprofloxacin and rifampicin,while E.faecium had low resistance rates to high concentration streptomycin,tertracycline,chloromycetin,and qinupristin/dalforpristin.CONCLUSION:E.faecalis and E.faecium are multi-drug resistant.Antimicrobials should be used rationally based on the susceptibility test of E.faecalis and E.faecium.