A case of inherited afibrinogenemia caused by an IVS7-12A>G splice mutation of FGG gene / 中华医学遗传学杂志

OBJECTIVE@#To explore the genetic basis for a Chinese pedigree affected with inherited afibrinogenemia.@*METHODS@#For the proband and his family members, prothrombin time (PT), activated partial thromboplastin time (APTT), thrombin time (TT), Fibrin(ogen) degradation products (FDPs), D-dimer (D-D), plasminogen activity (PLG:A) and the TT mixed experiment with protamine sulfate were determined with a STAGO-R automatic coagulation analyzer. The activity and antigen of fibrinogen (Fg) in plasma were measured with the Clauss method and immunonephelometry method, respectively. All exons and flanking regions of the fibrinogen genes (FGA, FGB and FGG) were amplified by PCR and directly sequenced. Human Splicing Finder software was used to predict and score the change of splicing site caused by the mutation.@*RESULTS@#The proband showed normal FDPs and D-D but significantly prolonged TT, PT and APTT. The activity and antigen of fibrinogen in plasma were significantly decreased (G (g.4147A>G) mutations of the FGG gene, for which his parents and young sister were heterozygous. As predicted by Human Splicing Finder and Mutation Taster software, the variant may generate a new splicing site which can extend the sequence of exon 7 by 11 bp, with alteration of the coding sequence. PROVEAN suggested the variant to be deleterious.@*CONCLUSION@#The afibrinogenemia of the proband may be attributed to the FGG IVS7-12A>G variant, which was unreported previously.

Retrospective analysis of the cell therapy of inhibition of antigen-presentation attenuators combined with adjuvant chemotherapy in the treatment of colon cancer / 中国基层医药

Objective To investigate the clinical effect and safety of the cell therapy of inhibition of antigen -presentation attenuators ( iAPA ) combined with adjuvant chemotherapy in the treatment of colon cancer . Methods From February 2014 to October 2015,the clinical data of 40 patients with colon cancer in the People＇s Hospital of Wenzhou were analyzed retrospectively.They were divided into control group and study group by the random digital table,with 20 cases in each group.The control group received mFOLFOX6 chemotherapy(treatment for 6 months),and the study group was treated with iAPA on the basis of the control group (treatment for 6 cycle).The clinical efficacy,levels of immune function indicators ( CD+3,CD+4,CD+8,CD+4/CD+8) before treatment and after treatment,the incidence of toxic and side effects and quality of life (QOL) score of the two groups were recorded.And the survival rates were statistically analyzed.Results The total effective rate of the study group was higher than that of the control group (85.0% vs.55.0%,χ2＝4.286,P＜0.05).After treatment,the serum levels of CD +3,CD+4,CD+8,CD+4/CD+8in the study group were higher than those in the control group,while the serum level of CD +8was lower in the study group than that in the control group,the differences were statistically significant (t＝2.657,3.160,5.700,2.326,all P＜0.05).There were no side effects of the degree of Ⅳin the two groups.The incidence rates of diarrhea(25.0%),vomiting and nausea (20.0%),liver function damage (25.0%) and bone marrow suppression (25.0%) in the study group were lower than those in the control group (χ2＝5.013,5.227,5.013,6.465,all P＜0.05).After treatment,the QOL scores of the two groups were higher than those before treatment (all P＜0.05),and the QOL score of the study group was higher than that of the control group (t＝4.739,P＜0.05).The survival rate of the study group was higher than that of the control group after 24 and 30 months of treatment(χ2＝5.013,4.912,all P＜0.05 ).Conclusion The iAPA combined with adjuvant chemotherapy in the treatment of colon cancer can regulate the immune function of the patients,and improve the treatment effect of the disease.It helps to improve the QOL and prolong the life period of the patients,reduce the incidence of side effects,and it is safe.