RESUMO
OBJECTIVE@#To investigate a family with congenital dysfibrinogenemia, and analyze the risk of hemorrhage and thrombosis and blood transfusion strategies.@*METHODS@#Prothrombin time (PT), activated partial thromboplastin time (APTT) and thrombin time (TT) of the proband and her family members were detected by automatic coagulometer, fibrinogen (Fg) activity and antigen were detected by Clauss method and PT algorithm respectively. Meanwhile, thromboelastometry was analyzed for proband and her family members. Then, peripheral blood samples of the proband and her family members were collected, and all exons of FGA, FGB and FGG and their flanks were amplified by PCR and sequenced to search for gene mutations.@*RESULTS@#The proband had normal APTT and PT, slightly prolonged TT, reduced level of Fg activity (Clauss method). The Fg of the proband's aunt, son and daughter all decreased to varying degrees. The results of thromboelastogram indicated that Fg function of the proband and her family members (except her son) was basically normal. Gene analysis showed that there were 6233 G/A (p.AαArg35His) heterozygous mutations in exon 2 of FGA gene in the proband, her children and aunt. In addition, 2 polymorphic loci were found in the family, they were FGA gene g.9308A/G (p.AαThr331Ala) and FGB gene g.12628G/A (p.BβArg478Iys) polymorphism, respectively. The proband was injected with 10 units of cryoprecipitate 2 hours before delivery to prevent bleeding, and no obvious bleeding occurred during and after delivery.@*CONCLUSION@#Heterozygous mutation of 6233G/A (p.AαArg35His) of FGA gene is the biogenetic basis of the disease in this family with congenital dysfibrinogenemia.
Assuntos
Humanos , Criança , Feminino , Fibrinogênio/genética , Linhagem , Afibrinogenemia/genética , Mutação , Transfusão de SangueRESUMO
<p><b>BACKGROUND</b>Non-invasive nasopharyngeal carcinoma (NPC) screening usually involves serological testing for the presence of IgA antibodies to Epstein-Barr virus (EBV) capsid antigen (VCA). The present meta-analysis determined the accuracy of VCA-IgA in the diagnosis of NPC.</p><p><b>METHODS</b>A systematic review of studies was conducted and data on the accuracy of VCA-IgA concentrations in the diagnosis of NPC were pooled using random effects models. Receiver operating characteristic curves were used to summarize the overall test performance.</p><p><b>RESULTS</b>Twenty studies met the inclusion criteria for the meta-analysis. The summary estimates for VCA-IgA in the diagnosis of NPC were: sensitivity 0.91 (95% confidence interval (CI): 0.90 - 0.92), specificity 0.92 (95%CI: 0.92 - 0.93), positive likelihood ratio 31.65 (95%CI: 10.99 - 91.15), negative likelihood ratio 0.10 (95%CI: 0.07 - 0.13) and diagnostic odds ratio 414.59 (95%CI: 174.96 - 982.42). The area under the summary receiver operating characteristic curves was 0.98.</p><p><b>CONCLUSION</b>The sensitivity and the specificity of serum VCA-IgA are very high, suggesting that the presence of VCA-IgA in peripheral blood is a valuable predictor for NPC.</p>