Objective To screen the neonatal malrotation with PITX2 gene exon 2 and 5 gene mutation through the study on molecular genetics.Methods From January 201 2 to December 201 4,1 5 cases of neonatal malro-tation infants(experimental group)and 25 healthy newborn infants(healthy control group)were selected as the research subjects from the First Affiliated Hospital of Shihezi University Medical College.The experimental group included 1 5 ca-ses of volvulus,4 cases of volvulus with duodenal atresia and 3 cases of volvulus with jejunal atresia.The clinical fea-tures were recorded and 3 mL peripheral venous blood from each subject was collected.After ethylenediamine tetraacetic acid (EDTA)anticoagulation,genomic DNA was extracted.Polymerase chain reaction (PCR)was used to amplify the exon 2 and exon 5 of PITX2 gene,and the direct sequencing method was used to screen whether there were mutations in these 2 loci.Results According to the findings of the matching gene,PITX2 gene exon 2 and exon 5 mutations were not detected in 15 cases with intestinal malrotation of the experimental group and 25 healthy newborns in the healthy control group.Conclusions Polymorphisms is not detected in PITX2 gene exon 2 and exon 5 in small groups of newborn,but this does not exclude the possibility the gene caused newborns suffering from intestinal malrotation by other means.

Aim To study the effects of Metformin (MF) on endocrine function of pituitary-gonad axis in rats. Methods The serum hormone concentration was measured with radioimmunoassay (RIA) and the morphology of gonad endocrine cells was observed with electron microscope. Results MF(135 mg?kg-1?d-1,ig,14 d)decreased serum T concentration in male rats and serum LH concentrations in female rats significantly(P

Aim To study effects of metfomin(MF) on calmodulin(CaM) mRNA exprssion of the pitutary-gonad axis in rats.Methods The CaM mRNA expression of the pitutary-gonad axis in rats was measured with the real time quantitative reverse transcriptase-polymerase chain reaction (RT-PCR) technique. Results MF (270 mg?kg-1?d-1,ig,21 d) significantly inhibited the CaM mRNA expression in testes (P

Objective:To explore the influence of family function on the psychological resilience of mothers of premature infants.Method:Totally 2 836 mothers of premature infants who met the inclusion criteria were investigated with general information questionnaire, family APGAR index (APGAR) and Connor-Davidson resilience scale (CD-RISC) in three third-class A general hospitals and two specialty hospitals in Ningxia.SPSS 23.0 software was used for statistical analysis.Pearson correlation was used to analyze the relationship between psychological resilience and family function of preterm mothers.Hierarchical regression was used to analyze the impact of family function on psychological resilience of preterm mothers.Results:Total score of resilience scale in mothers of premature infants was (68.38±16.59) and the total score of family function was (9.07±1.53). There were 1 550 cases with good family function and 1 286 cases with family dysfunction.The total score of psychological elasticity and the score of all dimensions in the group with good family function were higher than those in the group with family dysfunction( P<0.05). The total score of psychological elasticity ( r=0.771, P<0.01) and self-improvement ( r=0.410, P<0.05), tenacity ( r=0.492, P<0.01), optimism( r=0.438, P<0.05) were positively correlated with family function.Stratified regression analysis showed that cooperation( β=1.016) and intimacy( β=0.389) were the important influencing factors of preterm mothers' psychological resilience ( P<0.05). Conclusion:Psychological resilience of mothers of premature infants is closely related to their family function.Good family function can help mothers of premature infants improve their psychological resilience and promote their mental health.

Objective:To investigate the effects of gestational weight gain (GWG) at different stages on pregnancy complications such as preeclampsia, gestational hypertension, gestational diabetes mellitus(GDM), small for gestational age (SGA), and large for gestational age (LGA).Methods:This was a prospective longitudinal cohort study. Singleton pregnancies at 11-13 +6 weeks of gestation in the Affiliated Drum Tower Hospital, Medical School of Nanjing University from January 2017 to November 2019 were recruited. The maternal height, weight, blood pressure, and fetal ultrasonic parameters were measured at 19-23 +6, 29-34 +6, and 35-40 +6 weeks of gestation by face-to-face interview and the pregnancy outcomes were followed up. All participants were grouped by body mass index (BMI) in the first trimester, with <18.50 kg/m 2 as underweight group, 18.50-23.99 kg/m 2 as normal group, ≥24.00 kg/m 2 as overweight/obesity group. Chi-square test and rank-sum test were adopted for comparison among groups. Weekly weight gain was converted into Z scores, and insufficient, appropriate, and excessive weight gain were respectively defined when Z<-1, -1≤ Z≤1, and Z>1. The effect of weekly weight gain at different gestational trimesters on pregnancy complications was analyzed by binary logistic regression. Results:Totally, 4 143 pregnant women entered the cohort. After excluding 327 cases, 3 816 were finally included in the analysis, with 394 in underweight group, 2 668 in normal group, and 754 in overweight/obesity group. Excessive weekly weight gain in the early second trimester was a risk factor for LGA( aOR=1.78, 95% CI:1.31-2.42, P<0.001), and in the later second trimester it was associated with preterm preeclampsia ( aOR=3.00, 95% CI: 1.26-7.10, P=0.013), gestational hypertension ( aOR=2.38, 95% CI: 1.44-3.94, P=0.001), and LGA ( aOR=1.59, 95% CI: 1.15-2.22, P=0.005). In the third trimester, excessive weekly weight gain was associated with higher risks of term preeclampsia ( aOR=2.70, 95% CI: 1.61-4.54, P<0.001) and gestational hypertension ( aOR=1.84, 95% CI: 1.05-3.21, P=0.033); while insufficient weekly weight gain was a risk factor for SGA ( aOR=1.58, 95% CI: 1.01-2.48, P=0.045), but a protective factor for term preeclampsia ( aOR=0.37, 95% CI: 0.14-0.97, P=0.041). Insufficient and excessive weekly weight gain in the early second trimester were not related to GDM (both P>0.05). Conclusions:GWG at different stages has different effects on pregnancy complications. A more relaxed control of GWG in the early second trimester combined with strict control in both the later second trimester and the third trimester may be a reasonable strategy to reduce the risk of preeclampsia without increasing the risk of SGA.

Objective: To explore the relationship between fetal nuchal translucency (NT) in the first trimester and pregnancy outcome. Methods: A prospective cohort study was conducted in Nanjjing Drum Tower Hospital from December 2015 to December 2018, 4 958 singleton pregnant women were enrolled to screen fetal ultrasound structure and serology in the first trimester, ultrasound in the second trimester and neonatus physical examination 28 days after birth. According to the results of NT, 167 cases of fetus with increased NT (≥3.0 mm) and 4 791 cases of normal NT were divided, moreover, 86 cases with isolate increased NT and 81 cases of increased NT combined with structural abnormality. The prognosis of fetuses with different NT thickness was analyzed, and the pregnancy outcome of fetuses with isolate increased NT or combined with structural abnormality were analyzed. In the first trimester, if the fetal structure was abnormal or the serological screening result was high risk, the chromosomal microarray analysis (CMA) would be performed by chorionic villus sampling to determine the prenatal diagnosis. Results: (1) The pregnancy outcome for fetus of normal NT: there were 4 791 cases with normal NT. Totally, 4 726 cases with normal NT and no structural abnormalities were screened out in the firsttrimester. In this group, 5 cases of aneuploidies were diagnosed based on high risk of maternal serum biomarkers and 83 cases of structural abnormalities were screened out in the subsequent ultrasound scan and the neonatal examination. Another 65 cases with normal NT present complicated with structural anomalies were screened out in the first trimester and 4 cases were diagnosed as aneuploidies. (2) The pregnancy outcome for fetus of isolate increased NT: 66 (76.7%, 66/86) cases of isolated increased NT were performed CMA, 3 cases were diagnosed as trisomy 21 and terminated pregnancy. Another 4 cases were terminated pregnancy privately without cytogenetic diagnosis. No further anomalies were found in 79 cases till 6 to 21 months postnatally. (3) The pregnancy outcome for fetus of increased NT with structural anomalies: increased NT present with structural anomalies were screened out by detailed anomaly scan in the first trimester and 32 of them were confirmed as aneuploidies. In this group, 70 cases terminated pregnancy, 2 cases had spontaneous miscarriages and 9 cases had liveborns (1 newborn was found ventricular septal defect). (4) The pregnancy outcome for fetus of increased NT with or without structural anomalies: the percentage of aneuploidies in fetuses with isolated increased NT (3.5%, 3/86) was significantly lower than those with structural abnormalities (39.5%,32/81). The healthy survival rate in fetuses with isolated increased NT (91.9%,79/86) was significantly higher than those with structural abnormalities (9.9%, 8/81). Conclusions A detailed first-trimester anomaly scan could improve prenatal screening efficiency of birth defects. Compared to the fetuses with increased NT combined with structural abnormalities, the healthy survival rate of fetuses with isolated increased NT based on detailed first-trimester anomaly scan is higher and the percentage of fetal aneuploidies is lower.

Background High-sensitivity C-reactive protein (hs-CRP) is a sensitive biomarker for cardiovascular disease (CVD) and can independently predict the risk of cardiovascular events. Although the association between per- and polyfluoroalkyl substances (PFAS) exposure and CVD risk has been widely reported, studies on the association between hs-CRP and PFAS remain limited. Objective To investigate the association between PFAS and hs-CRP levels, to provide a scientific basis for early identification and prevention of environment-related cardiovascular events. Methods This study utilized data from the National Health and Nutrition Examination Survey (NHANES) database (2015–2018). Based on predefined inclusion and exclusion criteria, a total of 3219 participants were included for subsequent analysis. Five PFAS with detection rates exceeding 90% were selected as exposure factors and log-transformed (lnPFAS) for subsequent analysis, including perfluorohexane sulfonic acid (PFHxS), perfluorononanoic acid (PFNA), perfluorooctanoic acid (PFOA), perfluorooctane sulfonic acid (PFOS), and perfluorodecanoic acid (PFDA). After selecting potential confounders through a change-in-estimate approach, logistic regression was employed to examine the effects of individual PFAS on serum hs-CRP level. Additionally, quantile g-computation and Bayesian kernel machine regression (BKMR) were applied to assess the combined effects of PFAS mixtures on hs-CRP. Results The study included 3219 participants with a mean age of (50.4±17.6) years, of whom 1554 (48.28%) were male. The median concentrations of the five PFAS compounds were: 1.20 ng·mL⁻¹ (PFHxS), 0.50 ng·mL⁻¹ (PFNA), 1.50 ng·mL⁻¹ (PFOA), 5.20 ng·mL⁻¹ (PFOS), and 0.20 ng·mL⁻¹ (PFDA). The Wilcoxon rank-sum tests revealed statistically significant differences between the elevated serum hs-CRP (≥2 mg·L⁻¹) and normal (<2 mg·L⁻¹) groups for all five PFAS compounds (PFHxS: P=0.005; PFNA: P=0.009; PFOA: P<0.001; PFOS: P<0.001; PFDA: P<0.001). After adjusting for potential confounders, the analysis of individual PFAS exposure demonstrated significant negative associations between serum hs-CRP levels and both ln-PFOS (OR: 0.87; 95%CI: 0.79, 0.96; P=0.0036) and lnPFDA (OR: 0.78; 95%CI: 0.71, 0.86; P < 0.001). The joint effect analysis using quantile g-computation revealed an overall inverse association between PFAS mixtures and hs-CRP, with lnPFDA emerging as a primary contributor; an similar association was observed in males, but not significant in females. Further evaluation through BKMR showed that when PFAS mixture concentrations reached or exceeded P₇₀, their combined effect on hs-CRP became significantly lower than when all PFAS concentrations were at P₅₀, establishing a clear negative dose-response relationship. Conclusion The mixed exposure to PFAS showed a significant negative joint effect on serum hs-CRP levels, with PFDA being the key component contributing to this combined effect. Future prospective cohort studies are warranted to further validate these findings and elucidate the underlying mechanisms involved.

Objective:To evaluate the performance of biomarkers in aneuploidy screening in the first trimester-pregnancy associated plasma protein A(PAPP-A) combined with Fetal Medicine Foundation (FMF)'s competing risk model in screening preeclampsia among our population.Methods:This study was based on a prospective cohort of singleton pregnant women who underwent aneuploidy screening in the first trimester in Nanjing Drum Tower Hospital from January 2017 to September 2020. Mean arterial pressure (MAP), uterine artery pulsatility index (UtA-PI), and PAPP-A were converted into multiples of median (MoM) using the algorithm disclosed on the website of the FMF (fetalmedicine.org). The predictive outcomes of maternal factors alone or in combination with MAP, UtA-PI, and PAPP-A (alone or in combination) were calculated. Chi-square test, Fisher's exact test or rank sum test were used for comparison among groups and Bonferroni method for pairwise comparisons. Receiver operating characteristic (ROC) curve was used to evaluate the screening efficiency and to calculate the sensitivities of predicting preeclampsia, term and preterm preeclampsia at false-positive rates of 5% and 10%. The predictive performance of this model was further compared to the screening strategy that was recommended in Diagnosis and treatment of hypertension and pre-eclampsia in pregnancy: a clinical practice guideline in China (2020). Results:Among the 5 144 singleton pregnancy women who were recruited in the cohort, 4 919 cases were included and analyzed in this study. A total of 223 cases were diagnosed as preeclampsia (4.5%), including 55 preterm (1.1%) and 168 term preeclampsia (3.4%). The median of MoM values of MAP, UtA-PI, and PAPP-A in the non-preeclampsia group were around 1.0±0.1. Statistical significance was observed in the difference of MAP, UtA-PI, and PAPP-A Mom between women with preterm preeclampsia and those without preeclampsia [1.061 (0.999-1.150) vs 0.985 (0.935-4.043), 1.115 (0.873-1.432) vs 1.039 (0.864-1.236), 0.820 (0.493-1.066) vs 1.078 (0.756-1.508)], which was also seen in the difference of MAP and PAPP-A Mom between women with term preeclampsia and those without preeclampsia [1.065 (1.002-1.133) vs 0.985 (0.935-4.043), 1.007 (0.624-1.393) vs 1.078 (0.756-1.508)] (all P<0.025). The combination screening with maternal factors+MAP+UtA-PI+PAPP-A was noted for the best efficiency. In predicting preeclampsia preterm and term preeclampsia at the false-positive rate of 10%, the sensitivity of the model was 53.0%, 76.4% and 44.6% respectively. Using the screening method recommended in Diagnosis and treatment of hypertension and pre-eclampsia in pregnancy: a clinical practice guideline in China(2020), the proportion of people at high risk of preeclampsia was 5.9% (290/4 919), and the sensitivity for predicting preterm preeclampsia was 25.5% (14/55), which was significantly lower than the combination screening with maternal factors+MAP+UtA-PI+PAPP-A [65.5% (36/55)] when using the same proportion of high-risk population. Conclusion:The preeclampsia screening model based on aneuploidy screening biomarkers in the first trimester--PAPP-A in combination with materral factors, MAP, UtA-PI, can effectively screen preterm preeclampsia in the local population without increasing the laboratory costs.