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Objective To explore the application value of color Doppler ultrasound in screening of fetal con-genital heart disease and its significance.Methods 4 132 cases of the expectant mothers were selected,using color Doppler ultrasonography on the line screening of five section to detect fetal cardiac,to compare with the actual clinical situation and analyze the occurrence of fetal congenital heart disease.Results Among 50 cases(1.21%) of congeni-tal heart disease,28 cases were live births, accounted for 56.00%,13 cases of induced abortion, accounted for 26.00%,9 cases died,accounted for 18.00%.48 cases were detected by ultrasound,relevance ratio was 1.16%,the accuracy rate was 96.00%,the missed diagnosis rate was 4.00%.28 cases of live births undergoing surgical correc-tion,treatment effect was good,48 cases were detected,including 10 cases of ventricular septal defect,6 cases of tetral-ogy of Fallot,6 cases of atrial septal defect,5 cases of endocardial cushion defect,4 cases of single chamber,4 cases of persistent truncus arteriosus,3 cases right ventricular dysplasia,3 cases of tricuspid valve shift malformation,2 cases of persistent left superior vena cava,2 cases left ventricular dysplasia,2 cases of aortic arch interruption,1 case of rhabdomyoma.Conclusion Using color Doppler ultrasound detection for pregnant women can effectively detect severe congenital heart disease in the fetus,stop gravid timely,which can effectively improve the level of prenatal and postnatal care that is worth clinical application.
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A possible association between the polymorphism of glucose transporter 9 (GLUT9) rs1 3137343 and hyperuricemia was investigated in Chinese male population and the calculated genotype frequencies and allelic frequencies by PCR method and direct sequencing were reported.Data showed that there was statistical difference in GLUT9 rs13137343 genotype frequencies between hyperuricemia cases and controls(x2 =7.024,P =0.030).
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ObjectiveTo analyze the association of human urate transporter 1 ( hURAT1 ) gene promoter single-nucleotide polymorphisms(SNPs) with primary hyperuricemia ( HUA ) in Chinese Han people.MethodsA total of 215 patients with HUA and 323 healthy subjects were chosen to be investigated of SNP of hURAT1 promoter by PCR and sequencing.ResultsFive SNPs were identified,including-454A/T,-434T/C,-382C/T,-87C/T,and + 118G/A.Pairwise linkage disequilibrium analysis displayed a high linkage disequilibrium between the five SNPs ( r2 =0.99).In HUA group,the heterozygous genotypos ( AT,CT,CT,CT,AG ) frequencies were significantly lower than those in control group ( P＜0.05 ).Logistic regression analysis showed that the heterozygosis genotypes ( AT,CT,CT,CT,AG) were protective factors of HUA ( OR 0.68-0.75 ).The minor allele ( T,C,T,T,A ) frequencies for both SNPs were significantly different between two groups ( P =0.022,P =0.038 ).ConclusionThese findings indicate that -454A/T,-434T/C,-382C/T,-87C/T,and + 118G/A SNPs of hURAT1 gene promoter area are associated with HUA in Chinese Han population.