| Objective:1.Clinical research:A retrospective analysis of the treatment of pa-tients with deep venous thrombosis of the lower extremities or other parts in experimental group(Shi Xiao Yong Ann soup combined with warfarin)and control group(warfarin)to explore the clinical analysis of promoting blood circulation to blood stasis in treating thrombophilia.2.Experiment study:Through the gene sequencing of an Han inherited th-rombophilia pedigree in Lingnan area,to establish the molecular diagnosis and find out the gene mutation point,which can provided the basis theory for the targeted therapy of the inherited thrombophilia.Methods:1.Clinical research:Using retrospective study method,by accessing the electronic medical record system of our hospital,collecting the patients' in-formation of diagnosing "venous thromboembolic disease" "pulmonary emboli-sm" "lower extremity deep vein thrombosis" "thrombophilia" and discharged pati-ents with "embolization" in the diagnosis,according to the inclusion criteria and the exclusion criteria to eliminate unqualified cases,follow up of pati-ents by telephone and outpatient,acquisition of the patient's general infor-mation,all kinds of test results,treatment,treatment time;A total of 42 cases were screened out,Among them,21 cases were treated in the experimental group and 21 cases in the control group;the experimental group was treated with Shi Xiao Yong Ann soup combined with warfarin(Chinese medicine soup,bid,each about 250ml;warfarin 3mg qd),the control group was treated with warfarin(3mg qd),and adjusted the amount of warfarin according to INR,the observation time was 4 weeks after treatment;Compare the levels of indexes between experi-mental group before and after treatment,and the experimental group and control group after treat-ment,these indexes include platelet(PLT)?platelet hema-tocrit(PCT)?platelet distribution width(PDW)?platelet mean volume(MPV)?large platelet ratio(P-LCR)?prothrombin time(PT)?activated partial throm-boplastin time(APTT)?fibrinogen(FIB)?D-dimer(DDI)?alanine aminotransferase(ALT)?aspartate transaminase(AST)?serum creatinine(CREA)?UREA?swelling points?pain points;to explore the clinical effect of promoting blood circu-lation to blood stasis in treating thrombophilia.2.Experiment study:Tutor group through the collection of cases,found that previously we had received a number of patients with deep venous throm-boembolic disease,it presents family clustering,in this family there are nine people have recurrent venous thrombosis,and started at earlier age,according with thrombophilia diagnosis.Collecting the three people' s blood(2 patients,1 normal person)to measure coagulation?PC activity?PS activity?AT-? acti-vity?HC-? concentration,and perform whole genome sequencing,trying to find molecular genetics mutation site of its pathogenesis.Results:1.Clinical research:Through statistical analysis of 42 cases,compared with before treatment,the experimental group after treatment the blood in-dexes(PLT?PCT?PDW?MPV?P-LCR)and blood coagulation indexes FIB declined significantly(P<0.05),blood coagulation indexes(PT?APTT)increased signi?ficantly(P<0.05),liver and kidney function indexes(ALT?AST?UREA?CREA)there is no significant difference between before and after treatment(P>0.05),DDI?swelling points?pain points reduced significantly(P<0.05);The control group of PLT?PT increased significantly after treatment(P<0.05),PCT?PDW?MPV?P-LCR?APTT?FIB?liver and kidney function indexes(ALT?AST?UREA?CREA)have no significant difference(P>0.05)before and after treatment,DDI and pain points have no significant difference(P>0.05),swe-lling points decreased significantly(P<0.05).Comparison between groups af-ter treatment,the experimental group and control group of blood indexes(PLT?PCT?PDW?MPV?P-LCR),blood coagulation indexes(PT?APTT?FIB)significant difference between groups(P<0.05);The experimental group and control group in hepatic index(ALT?AST)and renal function index(UREA?CREA)have no si-gnificant difference between groups(P>0.05);The experimental group and con-trol group of DDI?swelling points?pain points significant difference between groups(P<0.05);Experimental group of blood indexes(PLT?PCT?PDW?MPV?P-LCR),FIB?DDI?swelling points?pain points significantly lower than the control group after treatment,PT?APTT are significantly higher than the control group.2.Experiment research:Combined with pedigree and all the results of the analysis,this inherited thrombophilia belong to autosomal dominant inheri-tance;According to the results of whole gene sequencing,three mutant genes related to the disease were found,F?(c.C1504T:p.R502W,c.C1573T:p.R525W,c.C1621T:p.R541W)?MASP1(c.C1609G:P.H537D)may cause thrombosis by acti-vating prothrombin,accelerating the coagulation process and leading to throm-bosis;This family of patients with repeated disease,the use of warfarin in-effective,may be related to the mution of CALU(c.383-387del:p.N128fs,c.386-390del:p.N129fs,c.839-843del:p.N280fs,c.617-621del:p.N206fs,c.863-867del:p.N288fs).Conclusion:1.Clinical research:Through the clinical analysis,we found that Chinese drugs of bloodstasisremoving can improve the platelet parameters,blood coagulation indexes,clinical symptoms of thrombophilia patiens,and less damage to liver and kidney function,effect is superior to pure western medicine group.2.Experiment research:Through the whole gene sequencing results,to find out the possible pathogenic genes of this family are F??MASP?,The poor efficacy of warfarin in this family may be related to the CALU gene mutation. |
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