Application of autoantibody in the diagnosis and treatment of threatened preterm labor / 实用医学杂志

Objective To investigate the correlation between serum levels of antiphospholipid antibody(aPL)(ACA-IgG,ACA-IgM,β2-GPI-IgG,β2-GPI-IgM),LAC,ds-DNA,and ANA and preterm labor with pre-maturity,and to analyze the prediction of preterm labor with the combination of age,week of gestation,history of delivery,and history of miscarriage,so as to provide references for the prevention and treatment of preterm la-bor and to promote eugenics.Methods Through a retrospective study design,43 pregnant women with preterm la-bor with preeclampsia diagnosed and treated at Guangdong Provincial People's Hospital from June 2018 to Decem-ber 2020 were collected as a case group,and 47 healthy pregnant women of the same period and similar gestational age were randomly selected as a control group.aPL(ACA-IgG,ACA-IgM,β2-GPI-IgG,β2-GPI-IgM)and ds-DNA were detected by enzyme immunoassay(ELISA)using an enzyme immunoassay instrument,lupus anticoagulant(LAC)in plasma was detected by coagulometer,and ANA was detected by indirect immunofluorescence using an immunofluorescence analyzer,and the application of SPSS 24.0 software was used to statistically analyze the gen-eral information and laboratory test data.the age of the patients was combined,gestational week,birth history,miscarriage history and other general information,logistic regression analysis was performed to find the indepen-dent influencing factors related to preterm labor;the analysis was performed by using the subjects'work charac-teristic curve(ROC curve)to determine the area under the ROC curve(AUC),the best predictive value,sensi-tivity and specificity,and to analyze the predictive value of preterm labor with preterm labor.Results In this study,the pregnant women in the group of pregnant women with preterm labor with preeclampsia were aged 27～40 years,with a mean age of(29.93±3.91)years,and the gestational weeks at the time of blood collection were 27-36 weeks,with a mean gestational week of(31.96±2.35)weeks,while the pregnant women in the healthy control group during the same time period were aged 25～40 years,with a mean age of(30.74±3.44)years,and the gestational weeks at the time of blood collection were 28～36 weeks,with a mean gestational week of(32.84±2.13)weeks.In the same period,healthy control group pregnant women were aged 25～40 years,with a mean age of(30.74±3.44)years,and were 28～36 weeks pregnant at the time of blood collection.The β2-GPI-IgM level of pregnant women in the case group with preterm labor was significantly higher than that of pregnant women in the healthy control group at the same time,with statistically significant differences(P<0.05),while the differences in the levels of β2-GPI-IgG,ds-DNA,and LAC between the two groups were not statistically significant(P>0.05).The analysis of the ROC curves showed that the AUC of β2-GPI-IgM was 0.642(P<0.05),which was the highest in the preterm group,and the AUC was 0.642(P<0.05).0.05),which was an independent influencing factor of preterm labor;age,gestational week,labor history,and miscarriage history could not be used as independent in-fluencing factors of preterm labor.Conclusion β2-GPI-IgM is associated with threatened preterm labor,it can be used as a predictor of threatened preterm labor,and has clinical utility in the monitoring of threatened preterm labor in pregnant women.

Identification of a novel FBN1 variant in a pedigree affected with Marfan syndrome / 中华医学遗传学杂志

OBJECTIVE@#To explore the genetic basis for a pedigree affected with Marfan syndrome (MFS).@*METHODS@#Clinical data of the patients was collected. With genomic DNA extracted from peripheral blood samples, potential mutation was detected by targeted exome sequencing. Candidate variants were validated by Sanger sequencing and bioinformatic analysis.@*RESULTS@#Targeted exome sequencing and Sanger sequencing revealed a missense c.649T to C(p.Trp217Arg) variant in the exon 7 of FBN1 gene, which was unreported previously. Bioinformatics analysis suggested that the variant can cause amino acid replacement and affect the structure and function of fibrillin-1.@*CONCLUSION@#A novel missense variant of the FBN1 gene was identified, which probably underlies the autosomal dominant MFS in this pedigree.

Identification of a novel FBN1 variant in a pedigree affected with Marfan syndrome / 中华医学遗传学杂志

Objective@#To explore the genetic basis for a pedigree affected with Marfan syndrome (MFS).@*Methods@#Clinical data of the patients was collected.With genomic DNA extracted from peripheral blood samples, potential mutation was detected by targeted exome sequencing.Candidate variants were validated by Sanger sequencing and bioinformatic analysis.@*Results@#Targeted exome sequencing and Sanger sequencing revealed a missense c. 649T>C(p.Trp217Arg) variant in the exon 7 of FBN1 gene, which was unreported previously.Bioinformatics analysis suggested that the variant can cause amino acid replacement and affect the structure and function of fibrillin-1.@*Conclusion@#A novel missense variant of the FBN1 gene was identified, which probably underlies the autosomal dominant MFS in this pedigree.