【Objective】 To analyze the genetic variation characteristics and clinical phenotypes of a family with primary microcephaly (MCPH) caused by RTTN gene variation, and to provide reference for genetic counseling and prenatal diagnosis. 【Methods】 Clinical data of the three patients (including 2 fetuses and 2-year-old proband,and one fetus with clinical diagnosis) and their parents were collected and analyzed. Two of the children and their parents were tested by trio whole exome sequencing (trio-WES), sanger sequencing validation sites, and the hazard of their compound heterozygous variants was predicted. Literature review was conducted through domestic and international databases to collect reported RTTN gene mutation cases. 【Results】 Three patients in this family had anomalies of the septum pellucidum, hypoplasia of the corpus callosum and other brain malformations during fetal period. The proband (G2) and fetus (G3) showed intrauterine growth retardation and MCPH in late pregnancy; besides, G2 was born with global developmental delay. Trio-WES detected a c.2101(exon16)C>T(p.Arg701Ter,1526) nonsense and a c.2863(exon22)G>A(p.Glu955Lys)missense in the RTTN gene of G2 and G3, which were inherited from their father and mother, forming a compound heterozygous variant. According to the American College of Medical Genetics and Genomics (ACMG) variant classification guidelines, two variants were likely to be pathogenic (LP) and uncertain significance (VUS). Among them, c.2863(exon22)G>A was a newly discovered missense, which was predicted by the software to be harmful to the gene product. 【Conclusions】 Complex heterozygous variations of RTTN gene (c.2101C>T and c.2863G>A) are the genetic cause of MCPH in this family. This report has enriched the variation spectrum of RTTN gene, provided guidance for prenatal diagnosis and reproduction of this family, as well as material and reference for further understanding of the diseases caused by this gene mutation.

Objective To analyze the fluorescence quantitative detection results of hepatitis B virus(HBV)DNA and distribution characteristics of serological markers in children aged 16 and below in Wuxi area,and provide evidence for improving the prevention and control measures of HBV in children.Methods The HBV DNA load in the serum of pediatric patients was detected by fluores-cence quantitative PCR,and the serological markers and liver function indexes of HBV were detected by the chemiluminescence and automatic biochemical analyzer methods,respectively.The data were analyzed using SPSS 13.0 statistical software.Results Among the 86 children who underwent fluorescence quantitative detection of HBV DNA,45 were detected for HBV DNA,with a positive rate of 52.3％,of which 34 had high viral load.Among the children with positive HBV DNA,35 were boys and 10 were girls.There was no statistical significance in the positive rate of HBV DNA between boys and girls(x2=3.688,P=0.055).There was a statistically signif-icant difference in the positive rate of HBV DNA among different age groups(x2=5.540,P=0.019),and the highest positive rate was found in children aged 15.A total of 64 pediatric patients were tested for the serological antigen and antibody markers of HBV,and 9 antigen-antibody combination patterns were found.A total of 80 pediatric patients were tested for liver function indexes,and 33 of them were found to have at least one abnormal index.Conclusion The detection of HBV DNA by fluorescence quantitative PCR comple-ments the detection of serological markers and biochemical indexes,and their combination can improve the accuracy of clinical diagno-sis of hepatitis B in children,which may provide effective reference for clinical judgment of the degree and infectivity of HBV infection.

Objective To analyze the fluorescence quantitative detection results of hepatitis B virus(HBV)DNA and distribution characteristics of serological markers in children aged 16 and below in Wuxi area,and provide evidence for improving the prevention and control measures of HBV in children.Methods The HBV DNA load in the serum of pediatric patients was detected by fluores-cence quantitative PCR,and the serological markers and liver function indexes of HBV were detected by the chemiluminescence and automatic biochemical analyzer methods,respectively.The data were analyzed using SPSS 13.0 statistical software.Results Among the 86 children who underwent fluorescence quantitative detection of HBV DNA,45 were detected for HBV DNA,with a positive rate of 52.3％,of which 34 had high viral load.Among the children with positive HBV DNA,35 were boys and 10 were girls.There was no statistical significance in the positive rate of HBV DNA between boys and girls(x2=3.688,P=0.055).There was a statistically signif-icant difference in the positive rate of HBV DNA among different age groups(x2=5.540,P=0.019),and the highest positive rate was found in children aged 15.A total of 64 pediatric patients were tested for the serological antigen and antibody markers of HBV,and 9 antigen-antibody combination patterns were found.A total of 80 pediatric patients were tested for liver function indexes,and 33 of them were found to have at least one abnormal index.Conclusion The detection of HBV DNA by fluorescence quantitative PCR comple-ments the detection of serological markers and biochemical indexes,and their combination can improve the accuracy of clinical diagno-sis of hepatitis B in children,which may provide effective reference for clinical judgment of the degree and infectivity of HBV infection.

Objective To study the effect of preoperative blood pressure control on postoperative cardiovascular events in patients with hypertension and gastrointestinal surgery. Methods A total of 238 hypertensive patients who underwent gastrointestinal surgery were selected and divided into control group (n =118)and non-control group (n =120)according to thehypotensor treatment.During the operation,the same anesthetic regimen was used.The use of vasoactive drugs was recorded during anesthesia.Bladder chalone C (Cys C)and cardiac troponin T (cTnT)were de-tected in blood before and after the operation,and so were N-terminal B type natriuretic peptide (NT-proBNP)level on the 1st and 5th day after the operation.The postoperative hospitalization time,fol-low-up of cardiovascular events 28 and 90 days after discharge were recorded.Results Compared with the non-control group,the total dosage of ephedrine in the control group was significantly re-duced [(3.41±1.04)mg vs (7.46 ± 3.29)mg,P <0.05 ],total dose of phenylephrinewas signifi-cantly reduced [(0.17±0.10)mg vs (0.46 ±0.16)mg,P <0.05],postoperative hospital stay was significantly shorter [(5.92±1.15)d vs (9.65±1.61)d,P <0.05],NT-proBNP level in the control group on the 1st day after the operation [(108.00 ± 47.11 )pg/L vs (250.38 ± 62.92 )pg/L,P <0.01]and 5 days after the operation [(62.07 ±25.31)pg/L vs (199.02 ± 60.32)pg/L,P <0.01 ] was obviously reduced.There was no statistical difference in Cys C andcTnT between the two group-safter operation.The incidence of cardiovascular adverse events in the control group was significantly lower than that in the non-control group (28 d:13.6% vs 62.7%,90 d:23.3% vs 23.3%,P <0.05).Conclusion Strict control of preoperative blood pressure control in patients with hypertension can significantly reduce the incidence of cardiovascular events.