Objective To explore the diagnosis value of 320-row detector dynamic volume CT in complex congenital heart disease (CCHD)with double outlet right ventricle(DORV).Methods Seventy-eight patients who proveed DORV by surgery in Xinqiao Hospital of Third Military Medical University were reviewed.Thirty-six patients of group A performed 320-row detector dynamic volume CT by using segmental analysis,and were compared with the group B(42 Cases) performed conventional 64-slice CT respectively.Results In 36 cases of DORV confirmed by surgery in group A,MSCT provided accurate qualitative diagnosis in all cases.The accuracy rate of diagnosis of the group B was 90.7％.There was no significant differences compared with the group A (P＞0.05).There were ventricular septal defect in all the 78 cases,pulmonary stenosis in 56 cases,atrial septal defect in 34 cases,pulmonary hypertension in 21 cases,patent ductus arteriosus in 16 cases,coarctation of aorta in 9 cases.Conclusion The 320-row detector dynamic volume CT has important diagnostic value for DORV of the anatomical diagnosis.

Objective To study the mutation characteristics in phenylalanine hydroxylase gene of Xinjiang minority nationality phenylketonuria (PKU) patients and provide a scientific basis for PKU prevention and cure strategy.Methods Mutations in phenylalanine hydroxylase gene were detected by Dolymerase chain reaction-single strand comformation polymorphism (PCR/SSCP) and gene sequencing in 12 minoritv nationality patients.Results Thirteen different mutations,including 8 missense mutations,1 nonsense mutation and 3 splice mutations were found in 24 alleles.The moat common mutations were EX696A＞G and P281 L.which were respectively prevalent in Asia and Europe populations.The common mutations were R243Q,R111X,R176X and F161S.The mutation frequency of R243Q was the highest and R111X was the third highest in Northern China.R176X and F161S were two rare mutations world wide.Especially.F161S was a Chinese-specific mutation because it was for the second time that it was found in China.The mutations detected in this study were first reported in these 3 minority nationality populations,which showed a distinct ethical characteristic.Condusions There is not only a consanguineous relation but also a distinct difference in PAH gene distribution between Xinjiang minority nationality population and yellow race and Latin-American.The results suggest that Xinjiang could probably be a special PAH gene distribution region.

Objective:To investigate the anti-syphilis treatment status among pregnant women with syphilis and its influencing factors, and to explore the relationship between the treatment status and pregnancy outcome.Methods:Through the National Information System for the Prevention of Mother-to-child Transmission of acquired immune deficiency syndrome (AIDS), Syphilis and Hepatitis B, the demographic data, anti-syphilis treatment status during pregnancy and pregnancy outcomes of 1 614 pregnant women with syphilis who gave birth in Guangzhou City from January 2013 to December 2016 were collected. Chi-square test was used for comparison between groups and logistic regression method was used to identify influence factors of syphilis treatment and adverse pregnancy outcomes.Results:A total of 1 614 pregnant women with syphilis were included. The rates of standard treatment, general treatment and no treatment were 37.17%(600/1 614), 40.77%(658/1 614) and 22.06%(356/1 614), respectively. Logistic regression analysis showed that the rate of standard treatment was lower in the women with nonlocal registered permanent residence (adjusted odds ratio ( aOR)=0.670, 95% confidence interval ( CI) 0.523-0.858, P=0.002), unmarried ( aOR=0.582, 95% CI 0.393-0.863, P=0.007), education level of high school ( aOR=0.691, 95% CI 0.507-0.943, P=0.020), education level of junior middle school or below ( aOR=0.607, 95% CI 0.459-0.803, P<0.01), diagnosis after 28 weeks ( aOR=0.088, 95% CI 0.062-0.125, P<0.01) and unknown non-treponema pallidum antigen serologic test result at the time of diagnosis ( aOR=0.459, 95% CI 0.297-0.710, P=0.001). After controlling other related factors, compared with standard treatment group, the risk of adverse pregnancy outcome was increased in general treatment and untreated group, with aOR of 1.553 (95% CI 1.079-2.234, P=0.018) and 2.097 (95% CI 1.347-3.267, P<0.01), respectively. Compared to mothers with non-treponema pallidum antigen serologic test result ≤1∶4 at the time of diagnosis, the risk for adverse pregnancy outcome was significantly increased in mothers with non-treponema pallidum antigen serologic test result ≥1∶8 ( aOR=1.542, 95% CI 1.105-2.152, P=0.011). Compared to mothers with negative non-treponema pallidum antigen serologic test result at the last test during pregnancy, the risk for adverse pregnancy outcome was significantly increased in mothers with non-treponema pallidum antigen serologic test result ≥1∶8 ( aOR=2.063, 95% CI 1.151-3.700, P=0.015). Conclusion:Early diagnosis of syphilis, standard treatment and follow-up during pregnancy can effectively improve the pregnancy outcomes of pregnant women with syphilis.

Objective To investigate the mutation characteristics in exon 7 of the PAH gene in phenylketonuria(PKU) patients in Xinjiang.Methods The mutations in exon 7 of PAH gene were detected by PCR/SSCP in 37 PKU patients.Results Five missense mutations including R243Q,L255S,E280G, E280K and P281L were identified in 74 chromosomes from 37 PKU patients,with relative frequencies of 18.9%,4.1%,1.4%,1.4% and 1.4% respectively.The frequency of mutant alleles in exon 7 was 27%. Among the five mutations,it was the second time the E280G mutation was reported in the world.In China,it was the second time the L255S,E280K and P281 L mutations were found.P281L and R243Q mutations were first found in 2 of Chinese Uygur.Considering the previous reports and the present study,R243Q was the most prevalent form in Asian PKU populations.P281L and E280K were two common mutations in PKU patients from European countries.However,E280G and L255S were two characteristic forms in Chinese. Condusions Characteristics of PAH gene mutations are shown in Chinese PKU population from Xinjiang, which is a special distribution belt that located between China and Europe.The results give a clue that Xinjiang could probably be an ideal genetic resource repertoire for studying diversity of gene mutations, heterogeneity of PAH gene,human genesis and migration.

Objective: To evaluate the influence of antiretroviral prophylaxis on the growth and development of HIV-exposed uninfected infants in Guangzhou. Methods: Data were from the national information system for prevention of mother-to-child transmission of HIV infection, syphilis and hepatitis B. After excluding death and perinatal HIV infection cases, 564 HIV-exposed uninfected infants were included. The infants were divided into three groups, nevirapine (NVP) group, zidovudine (AZT) group and untreated group. The influences of antiretroviral prophylaxis on the body weight and height of the HIV-exposed uninfected infants were analyzed by using generalized estimating equations. Results: The HIV-exposed uninfected infants at 1-month old had lower Z scores of body weight-for-age and body height-for-age than the World Health Organization’s reference standard. The prevalence of wasting in AZT group (17.5%) was higher than that in NVP group (6.2%) for 1-month old infants. Taking NVP or AZT was a protective factor for Z score of body length-for-age (P<0.05). Intrauterine exposure to triple antiviral drugs was a risk factor for the Z scores of body weight-for-age and body length-for-age (P<0.05). Conclusion The physical growth and development of HIV-exposed uninfected infants at 1-month old was not well, and HIV-exposed uninfected infants who taking AZT had a higher incidence of wasting. Attention should be paid to these infants.