Whole exome sequencing with a focus on cardiac disease-associated genes in families of sudden unexplained deaths in Yunnan, southwest of China.

OBJECTIVES: To explore the causes of sudden unexpected death (SUD) and to search for high-risk people, whole exome sequencing (WES) was performed in families with SUDs.  METHODS: Whole exome sequencing of 25 people from 14 SUD families were screened based on cardiac disease-associated gene variants, and their echocardiograms and electrocardiograms (ECG) were also examined. The protein function of mutated genes was predicted by SIFT, PolyPhen2 and Mutation Assessor. RESULTS: In the group of 25 people from 14 SUD families, 49 single nucleotide variants (SNVs) of cardiac disease-associated genes were found and verified by Sanger sequencing. 29 SNVs of 14 cardiac disorder-related genes were predicted as pathogens by software. Among them, 7 SNVs carried by two or more members were found in 5 families, including SCN5A (c.3577C > T), IRX4 (c.230A > G), LDB3 (c.2104 T > G), MYH6 (c.3G > A), MYH6 (c.3928 T > C), TTN (c.80987C > T) and TTN (c.8069C > T). 25 ECGs were collected. In summary, 4 people had J-point elevation, 2 people had long QT syndrome (LQTS), 4 people had prolonged QT interval, 3 people had T-wave changes, 3 people had sinus tachycardia, 4 people had sinus bradycardia, 4 people had left side of QRS electrical axis, and 3 people had P wave broadening. Echocardiographic results showed that 1 person had atrial septal defect, 1 person had tricuspid regurgitation, and 2 people had left ventricular diastolic dysfunction. CONCLUSIONS: Of the 14 heart disease-associated genes in 14 SUDs families, there are 7 possible pathological SNVS may be associated with SUDs. Our results indicate that people with ECG abnormalities, such as prolonged QT interval, ST segment changes, T-wave change and carrying the above 7 SNVs, should be the focus of prevention of sudden death.

The Interactions between Maternal Iron Supplementation and Iron Metabolism-Related Genetic Polymorphisms on Birth Outcomes: A Prospective Study in Chinese.

BACKGROUND: The effect of iron supplementation during pregnancy on birth outcomes may vary with maternal genetic background and needs more investigation. OBJECTIVES: This prospective study aimed to evaluate the interactions between maternal iron supplementation and iron metabolism-related genetic polymorphisms on birth outcomes. METHODS: This was a substudy from a community-based randomized control trial conducted in Northwest China, which included 860 women from the 2 micronutrient supplementation groups (folic acid [FA] and FA + iron group). Maternal peripheral blood, sociodemographic and health-related information, and neonatal birth outcomes were collected. Six single nucleotide polymorphisms in iron metabolism-related genes were genotyped. The alleles associated with decreased iron/hemoglobin status were used as the effect alleles. The genetic risk score (GRS) that reflected the genetic risk of low iron/hemoglobin status was estimated using the unweighted and weighted methods. Generalized estimating equations with small-sample corrections were applied to evaluate the interactions between iron supplementation and SNPs/GRS on birth outcomes. RESULTS: There were significant interactions between maternal iron supplementation and rs7385804 (P = 0.009), rs149411 (P = 0.035), rs4820268 (P = 0.031), the unweighted GRS (P = 0.018), and the weighted GRS (P = 0.009) on birth weight. Compared with FA supplementation only, FA + iron supplementation significantly increased birth weight among women with more effect alleles in rs7385804 (ß: 88.8 g, 95% CI: 9.2, 168.3) and the GRSs (the highest unweighted GRS, ß: 135.5 g, 95% CI: 7.7, 263.4; the highest weighted GRS, ß: 145.9 g, 95% CI: 43.4, 248.5); it had a trend of decreasing birth weight and increasing low birth weight risk among women with fewer effect alleles. CONCLUSIONS: In our population, maternal genetic background related to iron metabolism plays a significant role in determining the efficacy of iron supplementation. Routine iron supplementation could be more beneficial to fetal weight growth among mothers with higher genetic risk for low iron/hemoglobin status.

Maternal exposure to housing renovation during the periconceptional period and the risk of offspring with isolated congenital heart disease: a case-control study.

BACKGROUND: Congenital heart disease (CHD) is the most prevalent birth defect in recent decades. The aim of this research was to examine the association between maternal housing renovation exposure during the periconceptional period and isolated congenital heart disease (CHD) in their offspring. METHODS: A multi-hospitals case-control study was conducted from six tertiary A hospitals in Xi'an, Shaanxi, Northwest China based on questionnaires and interviews to address this question. The cases included fetuses or newborns diagnosed with CHD. Controls consisted of healthy newborns without birth defects. In total, 587 cases and 1180 controls were enrolled in this study. The association between maternal periconceptional housing renovation exposure and isolated CHD for offspring was assessed by estimating odds ratios (OR) with multivariate logistic regression models. RESULTS: After adjusting for potential confounding variables, it was found that maternal exposure to home improvement projects was associated with a higher probability of isolated CHD in offspring (adjusted OR: 1.77, 95% CI: 1.34, 2.33). Additionally, the risk of the ventricular septal defect (VSD) and patent ductus arteriosus (PDA) for CHD types was significantly associated with maternal exposure to housing renovations (VSD: adjusted OR = 1.56, 95% CI: 1.01, 2.41; PDA: adjusted OR = 2.50, 95% CI: 1.41, 4.45). CONCLUSIONS: Our study suggests that maternal exposure to housing renovation during the periconceptional period was associated with an increased risk of isolated CHD in offspring. Consequently, it would be beneficial to avoid living in a renovated home from 12 months before pregnancy through the first trimester to lower isolated CHD in infants.

Cytotoxicity of 4 Wild Mushrooms in a Case of Yunnan Sudden Unexplained Death.

OBJECTIVES: To explore the cytotoxicity of four wild mushrooms involved in a case of Yunnan sudden unexplained death (YNSUD), to provide the experimental basis for prevention and treatment of YNSUD. METHODS: Four kinds of wild mushrooms that were eaten by family members in this YNSUD incident were collected and identified by expert identification and gene sequencing. Raw extracts from four wild mushrooms were extracted by ultrasonic extraction to intervene HEK293 cells, and the mushrooms with obvious cytotoxicity were screened by Cell Counting Kit-8 (CCK-8). The selected wild mushrooms were prepared into three kinds of extracts, which were raw, boiled, and boiled followed by enzymolysis. HEK293 cells were intervened with these three extracts at different concentrations. The cytotoxicity was detected by CCK-8 combined with lactate dehydrogenase (LDH) Assay Kit, and the morphological changes of HEK293 cells were observed under an inverted phase contrast microscope. RESULTS: Species identification indicated that the four wild mushrooms were Butyriboletus roseoflavus, Boletus edulis, Russula virescens and Amanita manginiana. Cytotoxicity was found only in Amanita manginiana. The raw extracts showed cytotoxicity at the mass concentration of 0.1 mg/mL, while the boiled extracts and the boiled followed by enzymolysis extracts showed obvious cytotoxicity at the mass concentration of 0.4 mg/mL and 0.7 mg/mL, respectively. In addition to the obvious decrease in the number of HEK293 cells, the number of synapses increased and the refraction of HEK293 cells was poor after the intervention of Amanita manginiana extracts. CONCLUSIONS: The extracts of Amanita manginiana involved in this YNSUD case has obvious cytotoxicity, and some of its toxicity can be reduced by boiled and enzymolysis, but cannot be completely detoxicated. Therefore, the consumption of Amanita manginiana is potentially dangerous, and it may be one of the causes of the YNSUD.

Increased versus standard gonadotrophin dosing in predicted poor responders of IVF: an open-label randomized controlled trial.

STUDY QUESTION: Does an increased dosing of FSH improve the live birth rate as compared to standard FSH dosing in expected poor responders who undergo IVF? SUMMARY ANSWER: In this trial, women with an expected poor response allocated to increased FSH dosing did not have a statistically significant increase in cumulative live births as compared to a standard FSH dose. WHAT IS KNOWN ALREADY: Poor ovarian reserve leads to worse IVF outcomes owing to the low number and quality of oocytes. Clinicians often individualize the FSH dose using ovarian reserve tests, including antral follicle count (AFC), and basal plasma FSH or anti-Müllerian hormone level. However, the evidence that increased FSH dosing improves fertility outcomes in women with an expected poor response is lacking. STUDY DESIGN, SIZE, DURATION: We performed a parallel, open-label randomized controlled trial between March 2019 and October 2021 in an assisted reproduction centre. PARTICIPANTS/MATERIALS, SETTING, METHODS: Women <43 years of age with AFC <10 referred for their first IVF cycle were randomized for increased or standard FSH dosing. In participants allocated to increased FSH dosing, women with AFC 1-6 started with 300 IU/day, while women with AFC 7-9 started with 225 IU/day. In participants allocated to the standard care, women started with 150 IU/day. The primary outcome was cumulative live birth attributable to the first IVF cycle including fresh and subsequent frozen-thawed cycles within 18 months of randomization. Live birth was defined as the delivery of one or more living infants ≥24 weeks' gestation. This trial was powered to detect an 11% difference in live birth attributable to the first IVF cycle. Outcomes were evaluated from an intention-to-treat perspective. MAIN RESULTS AND THE ROLE OF CHANCE: We randomized 661 women to start FSH at increased dosing (n = 328) or standard dosing (n = 333). The primary outcome cumulative live birth occurred in 162/328 (49.4%) women in the increased group versus 141/333 (42.3%) women in the standard group [risk ratio (RR) 1.17 (95% CI, 0.99-1.38), risk difference 0.07 (95% CI, -0.005, 0.15), P = 0.070]. The live birth rate after the first embryo transfer in the increased versus standard group was 125/328 (38.1%) versus 117/333 (35.1%), respectively [RR 1.08 (95% CI, 0.83-1.33), P = 0.428]. Cumulative clinical pregnancy rates were 59.1% versus 57.1% [RR 1.04 (95% CI, 0.91-1.18), P = 0.586] with miscarriage rates of 9.8% versus 14.4% [RR 0.68 (95% CI, 0.44-1.03), P = 0.069] in the increased versus standard group, respectively. Other secondary outcomes, including biochemical pregnancy, ongoing pregnancy, multiple pregnancy and ectopic pregnancy, were not significantly different between the two groups both from the first and cumulative embryo transfer. LIMITATIONS, REASONS FOR CAUTION: As this study is open-label, potential selective cancelling and small dose adjustments could have influenced the results. WIDER IMPLICATIONS OF THE FINDINGS: In women with predicted poor response, we did not find evidence that increased FSH dosing improves live birth rates. A standard dose of 150 IU/day is recommended at the start of IVF in these women to reduce potential adverse effects and costs. STUDY FUNDING/COMPETING INTEREST(S): This study was funded by the General Projects of Social Development in Shaanxi Province (No. 2022SF-565). B.W.M. is supported by NHMRC (GNT1176437). B.W.M. reports personal fees from ObsEva, and funding from Merck and Ferring outside the submitted work. TRIAL REGISTRATION NUMBER: Registered at Chinese clinical trial registry (www.chictr.org.cn). Registration number ChiCTR1900021944. TRIAL REGISTRATION DATE: 17 March 2019. DATE OF FIRST PATIENT'S ENROLMENT: 20 March 2019.

The Xi'an longitudinal mother-child cohort study: design, study population and methods.

The large-scale Xi'an longitudinal mother-child cohort study has started to enroll pregnant women who attended Northwest Women's and Children's Hospital (NWCH) for antenatal care in early pregnancy (less than 20 weeks' gestation) from January 2013 and the enrollment will be ended in January 2023. We aimed to investigate the role of external factors (i.e., diet and environment) and internal (i.e., biological, genetic and epigenetic) on the short- and long-term outcomes of mothers and children up to at least 12 years. Mothers completed all routine prenatal care during pregnancy and four times of follow-up at 42 days, 3, 6 and 12 years after delivery, respectively. For children, birth information were obtained from routine medical records and the follow-up information were obtained from child health care clinics of NWCH at age 42 days, 6, 12 and 24 months, then by interviewing mothers every two years until 12 years old. A range of data (including biological, demographic, birth outcomes/birth defects and nutritional factors from both maternal and off-spring) were collected by both interviews and laboratory tests. By June 30th 2019, a total of 114,946 mothers and 124,454 live births had been recruited.

Association of antenatal vitamin B complex supplementation with neonatal vitamin B12 status: evidence from a cluster randomized controlled trial.

PURPOSE: Evidence about the effect of maternal vitamin B12 supplementation on offspring's vitamin B12 status is limited. The present interventional study sought to evaluate the association of antenatal vitamin B complex supplementation with neonatal vitamin B12 status. METHODS: In an ongoing cluster randomized controlled trial conducted in three rural counties in northwest China, pregnant women < 20 weeks of gestation were randomized to three treatment groups: blank control, iron supplements, or vitamin B complex supplements. All women were administered folic acid supplements during the periconceptional period. In a sub-study, we collected cord blood samples of 331 participants from the control or vitamin B complex groups in the Xunyi county from January 2017 to December 2017. Plasma concentrations of folate, vitamin B12, and homocysteine were measured. Linear mixed models with a random intercept for cluster were used to compare biochemical indexes between groups after controlling for covariates. RESULTS: Compared with newborns whose mothers were in the control group, newborns of the vitamin B complex-supplemented women had significantly higher cord plasma vitamin B12 (P = 0.001) and lower homocysteine concentrations (P = 0.043). The association of antenatal vitamin B complex supplementation with cord blood vitamin B12 concentrations appeared to be more pronounced among newborns with high folate status than those with low folate status (Pinteraction = 0.060). CONCLUSIONS: Maternal vitamin B complex supplementation during pregnancy was associated with better neonatal vitamin B12 status in rural northwest China.

Evaluation of factors that predict the success rate of trial of labor after the cesarean section.

BACKGROUND: For most women who have had a previous cesarean section, vaginal birth after cesarean section (VBAC) is a reasonable and safe choice, but which will increase the risk of adverse outcomes such as uterine rupture. In order to reduce the risk, we evaluated the factors that may affect VBAC and and established a model for predicting the success rate of trial of the labor after cesarean section (TOLAC). METHODS: All patients who gave birth at Northwest Women's and Children's Hospital from January 2016 to December 2018, had a history of cesarean section and voluntarily chose the TOLAC were recruited. Among them, 80% of the population was randomly assigned to the training set, while the remaining 20% were assigned to the external validation set. In the training set, univariate and multivariate logistic regression models were used to identify indicators related to successful TOLAC. A nomogram was constructed based on the results of multiple logistic regression analysis, and the selected variables included in the nomogram were used to predict the probability of successfully obtaining TOLAC. The area under the receiver operating characteristic curve was used to judge the predictive ability of the model. RESULTS: A total of 778 pregnant women were included in this study. Among them, 595 (76.48%) successfully underwent TOLAC, whereas 183 (23.52%) failed and switched to cesarean section. In multi-factor logistic regression, parity = 1, pre-pregnancy BMI < 24 kg/m2, cervical score ≥ 5, a history of previous vaginal delivery and neonatal birthweight < 3300 g were associated with the success of TOLAC. The area under the receiver operating characteristic curve in the prediction and validation models was 0.815 (95% CI: 0.762-0.854) and 0.730 (95% CI: 0.652-0.808), respectively, indicating that the nomogram prediction model had medium discriminative power. CONCLUSION: The TOLAC was useful to reducing the cesarean section rate. Being primiparous, not overweight or obese, having a cervical score ≥ 5, a history of previous vaginal delivery or neonatal birthweight < 3300 g were protective indicators. In this study, the validated model had an approving predictive ability.

Maternal exposure to life events during pregnancy and congenital heart disease in offspring: a case-control study in a Chinese population.

BACKGROUND: Previous studies have suggested that maternal stress could increase the risk of some adverse pregnancy outcomes, but evidence on congenital heart disease (CHD) is limited. We aimed to explore the association between maternal exposure to life events during pregnancy and CHD in offspring. METHODS: The data was based on an unmatched case-control study about CHD conducted in Shaanxi province of China from 2014 to 2016. We included 2280 subjects, 699 in the case group and 1581 in the control group. The cases were infants or fetuses diagnosed with CHD, and the controls were infants without any birth defects. The life events were assessed by the Life Events Scale for Pregnant Women, and were divided into positive and negative events for synchronous analysis. A directed acyclic graph was drawn to screen the confounders. Logistic regression was employed to estimate the odds ratio and 95% confidence interval for the effects of life events on CHD. RESULTS: After controlling for the potential confounders, the pregnant women experiencing the positive events during pregnancy had lower risk of CHD in offspring than those without positive events (OR = 0.38, 95%CI: 0.30 ~ 0.48). The risk of CHD in offspring could increase by 62% among the pregnant women experiencing the negative events compared to those without (OR = 1.62, 95%CI: 1.29 ~ 2.03). Both effects showed a certain dose-response association. Besides, the positive events could weaken the risk impact of negative events on CHD. CONCLUSION: It may suggest that maternal exposure to negative life events could increase the risk of CHD in offspring, while experiencing positive events could play a potential protective role.

Pneumonia, Multiple Pulmonary Infarction and Abscess Caused by a Bamboo Stick Accidentally Piercing into Chest: a Case Misdiagnosed as Pulmonary Tuberculosis.

Computed tomography (CT) examination is the major measure for detecting and diagnosis of foreign bodies in human body. Although CT has high sensitivity in diagnosis of foreign body, some interference factors may still lead to missed diagnosis or misdiagnosis. Here we report a rare case that a bamboo stick accidentally pierced into the left chest of a young man who was drunk and unware of this hurt. The patient experienced cough, chest pain, fever, hemoptysis, and was misdiagnosed as primary and secondary tuberculosis based on chest CT examinations at a local hospital, although no tubercular bacillus detected by sputum smear. He subsequently received anti-tuberculous treatments in the following three years, but no improvement of his symptoms was observed. Until one month before his death, the bamboo stick was detected by spiral CT examination as well as three-dimensional image reconstruction at another hospital. Postmortem examination revealed pneumonia, pulmonary infarction, and abscess as the causes of his death. We analyze the potential reasons of misdiagnosis in this case, aiming to provide reference for the diagnosis and treatment of pulmonary inflammation associated with foreign body in the future.

Maternal dietary patterns during pregnancy derived by reduced-rank regression and birth weight in the Chinese population.

Few studies have investigated the association between maternal dietary patterns (DP) during pregnancy, derived from reduced-rank regression (RRR), and fetal growth. This study aims to identify DP during pregnancy associated with macro- and micronutrient intakes, using the RRR method, and to examine their relationship with birth weight (BW). We used data of 7194 women from a large-scale cross-sectional survey in Northwest China. Dietary protein, carbohydrate, haem Fe density and the ratio of PUFA and MUFA:SFA were used as the intermediate variables in the RRR model to extract DP. Generalised estimating equation models were applied to evaluate the associations between DP and BW and related outcomes (including BW z-score, low birth weight (LBW) and small for gestational age (SGA)). Four DP during pregnancy were identified. Socio-demographically disadvantaged pregnant women were more likely to have lower BW and lower adherence to DP1 (high legumes, soyabean products, vegetables and animal-source foods, with relative low wheat and oils). Women with medium and high adherence to DP1 had significantly increased BW (medium 28·6 (95 % CI 7·1, 50·1); high 25·2 (95 % CI 2·7, 47·6)) and BW z-score and had significantly reduced risks of LBW and SGA. The associations were stronger among women with babies <3100 g. There is no association between other DP and outcomes. Higher adherence to the DP that was high in legumes, soyabean products, vegetables and animal-source foods was associated with improved BW in the Chinese pregnant women, particularly among those with disadvantageous socio-demographic conditions.

A propensity-matched study of the association between pre-pregnancy maternal underweight and perinatal outcomes of singletons conceived through assisted reproductive technology.

RESEARCH QUESTION: Is pre-pregnancy maternal underweight associated with perinatal outcomes of singletons who were conceived through assisted reproductive technology (ART)? DESIGN: A 10-year (2006-2015) Chinese sample of 6538 women and their singleton infants who were conceived through ART was used to examine the association between pre-pregnancy maternal underweight and perinatal outcomes. Propensity scores for underweight were calculated for each participant using multivariable logistic regression, which was used to match 740 (91.36% of 810) underweight women with 740 normal weight women; the effects of underweight on birth weight and gestational age were then assessed by generalized estimating equation model. RESULTS: After propensity score matching, the birth weight was lower (difference -136.83 g, 95% CI -184.11 to -89.55 g) in the underweight group than in the normal weight group. The risks of low birth weight (LBW) and small for gestational age (SGA) were increased in the underweight group compared with those in the normal weight group (LBW: RR 1.64, 95% CI 1.01 to 2.67; SGA: RR 1.46, 95% CI 1.06 to 2.02). The risks of fetal macrosomia and being large for gestational age (LGA) were decreased in the underweight group compared with those in the normal weight group (macrosomia: RR 0.39, 95% CI 0.26 to 0.61; LGA: RR 0.36, 95% CI 0.24 to 0.53). The associations between underweight, gestational age and preterm birth were not statistically significant. CONCLUSIONS: Among women undergoing ART, pre-pregnancy maternal underweight was associated with lower birth weight, increased LBW and SGA risks, and decreased fetal macrosomia and LGA risks in singleton infants.

Comparison of perinatal outcomes following blastocyst and cleavage-stage embryo transfer: analysis of 10 years' data from a single centre.

RESEARCH QUESTION: Are there greater risks of adverse perinatal outcomes, in particular of congenital malformations, after blastocyst transfer compared with cleavage-stage embryo transfer in IVF? DESIGN: This was a retrospective cohort analysis from a centre for assisted reproduction at a public hospital in China over the period 2006-2015. The analysis covered all women who conceived (15,254) and newborns (16,213) from IVF/intracytoplasmic sperm injection (ICSI) cycles with cleavage-stage embryo transfer or blastocyst transfer. The principal outcome measures were congenital malformations, preterm birth (PTB), low birthweight (LBW), small for gestational age (SGA) and large for gestational age (LGA). RESULTS: Logistic regression analysis showed that the sex ratio was imbalanced towards male neonates after blastocyst transfer (P=0.001; adjusted OR 1.17, 95%CI 1.07-1.30) but there were no differences in rates of miscarriage, ectopic pregnancy, stillbirth, very preterm birth (<32 weeks), PTB (<37 weeks), LBW, SGA or LGA between blastocyst transfer and cleavage-stage embryo transfer. A total of 176 congenital malformations (123 cleavage-stage embryos versus 53 blastocysts) were identified both in newborns and aborted fetuses, but the difference between groups was not statistically significant. CONCLUSIONS: There was no difference in the risks of adverse perinatal outcomes, and in particular of congenital malformation, after blastocyst transfer compared with cleavage-stage transfer, although there was a sex ratio imbalance towards male neonates after blastocyst transfer.

Endometrial thickness as a predictor of ectopic pregnancy in 1125 in vitro fertilization-embryo transfer cycles: a matched case-control study.

PURPOSE: The ectopic pregnancy (EP) rate after in vitro fertilization-embryo transfer (IVF-ET) is higher than after spontaneous conception. The reason for the increased risk of EP is not clear. We aimed to determine the risk factors associated with EP in patients undergoing IVF-ET. METHODS: This was a 1:4 matched case-control study that enrolled 225 EP patients and 900 matched intrauterine pregnancy patients from the ART center of Northwest Women's and Children's Hospital from January 2014 to April 2018. Conditional logistic regression was used to analyze the association between risk factors and EP, and a receiver-operating characteristic (ROC) curve was generated for the predictors of EP. RESULTS: Our findings showed that tubal factor (OR 1.61; 95% CI 1.12-2.31) and pelvic surgery other than cesarean section (OR 2.04; 95% CI 1.26-3.29) were associated with a higher risk of EP (p = 0.001). An endometrial thickness > 12 mm prior to embryo transfer (OR 0.27; 95% CI 0.13-0.56) and the number of transferable embryos (OR 0.71; 95% CI 0.65-0.78) were protective factors against EP (p < 0.001). The other factors did not have a significant effect on the probability of developing ectopic pregnancy. The area under the curve of the endometrial thickness and the number of transferable embryos for EP prediction were higher than those for tubal factor and pelvic surgery other than cesarean section. CONCLUSIONS: An endometrial thickness > 12 mm is a strong protective factor against ectopic pregnancy. Attention should be paid to women with specific characteristics who have undergone IVF-ET.

Socioeconomic disparity in the diet quality of pregnant women in Northwest China.

BACKGROUND AND OBJECTIVES: Few studies have described the socioeconomic disparity of dietary quality in Northwest China. The present study aimed to evaluate the diet quality of pregnant women in Shaanxi province of Northwest China by using the Diet Balance Index for Pregnancy (DBI-P) and explored the relationships with socioeconomic status (SES). METHODS AND STUDY DESIGN: A cross-sectional analysis of data from 7,630 women who were pregnant during 2012-2013 was performed. Dietary intake during the whole pregnancy was assessed by FFQ within 12 months (median, 3 months; 10th-90th percentile, 0-7 months) after delivery. Diet quality evaluated by the DBI-P was related to socioeconomic factors. RESULTS: Most women had insufficient consumption of vegetables (72.27%), dairy (89.58%), meat (82.07%), fish and shrimp (92.23%), eggs (62.54%), and dietary variety (97.92%). 67.76% of women had excessive intake of grains, and 87.77% and 69.79% of participants had surplus consumption of edible oil and salt respectively. Women with higher education, occupation and household wealth index (HWI) consumed more vegetables, fruit, dairy, soybean and nuts, meat, fish and shrimp, eggs, edible oil, alcohol and dietary variety but less grains and salt. After adjusting for confounders, education, occupation and HWI were negatively associated with the level of inadequate dietary intake. Conversely, individuals with medium HWI had higher level of excessive dietary intake compared to low HWI groups. CONCLUSIONS: The diet quality of pregnant women in Northwest China was associated with SES. Socioeconomic disparities in diet quality should be considered when planning nutrition interventions for pregnant women.

Predictive value of basal androgen levels on ongoing pregnancy rates during in vitro fertilization cycles.

We aimed to evaluate the impact of elevated basal androgen levels on the endometrial receptivity. This study retrospectively enrolled 5278 fresh in vitro fertilization (IVF) cycles and sought to determine whether increased basal androgen levels are associated with adverse outcomes in regard to ongoing pregnancy rates. The results showed that the average age of our sample was 29.31 years. Almost 61.6% of all embryo transfers were with Day 3 embryos and the remaining 38.4% were with Day 5 embryos. The ongoing pregnancy rate was 56.4%. The ongoing pregnancy rates according to the various ordinal serum androgen intervals (<10.00, 10.00-19.99, 20.00-29.99, 30.00-39.99, and ≥40.00 ng/dL) were 60.12, 56.62, 58.64, 55.48, and 50.17%, respectively. The ongoing pregnancy rates were significantly lower in patients with high basal androgen levels (e40 ng/dL) (p < .05). Multivariate regression analysis showed that age, BMI, and endometrial thickness were inversely associated with basal androgen levels (p < .0001 for all). In conclusion, elevated serum basal androgen levels on cycle Day 3 before IVF is associated with reduced ongoing pregnancy rates.

Postmortem Analysis of 4 Mutation Hotspots of KCNQ1, KCNH2, and SCN5A Genes in Sudden Unexplained Death in Southwest of China.

Long QT syndrome (LQTS) is known to be involved in some sudden unexplained death (SUD) cases. To make clear whether the pathogenic genes of LQTS are involved in SUD in Yunnan province, southwest of China, we examined 4 mutation hotspot segments of KCNQ1, KCNH2, and SCN5A genes in 83 SUD cases using polymerase chain reaction and direct DNA sequencing. Genomic DNA was extracted from paraffin-embedded tissues in 83 cases of sudden cardiac death. One novel homozygous missense variant was identified in exon 3 of KCNQ1, c. 575G>T (p.R192L) in one case. One novel heterozygous missense variant was identified in exon 7 of KCNH2, c.1789T>A (p.Y597N) in 1 case. One novel heterozygous missense variant was identified in exon 7 of KCNH2, c.1800C>A (p.S600R) in 9 cases. In addition, 18 individuals were found to have heterozygous missense variant in exon 7 of KCNH2, c.1801G>A (p.G601S). Our study suggests that some SUDs in Yunnan province may be related with the pathogenic genes of LQTS.

Dietary intakes and dietary patterns among pregnant women in Northwest China.

OBJECTIVE: To describe nutrient intakes, characterize dietary patterns and analyse their associations with sociodemographic characteristics among pregnant women in Shaanxi, China. DESIGN: Population-based cross-sectional survey. SETTING: Twenty counties and ten districts in Shaanxi Province of Northwest China, 2013. SUBJECTS: Women (n 7462) were recruited using a stratified multistage random sampling method to report diets during pregnancy, at 0-12 months (median 3 months; 10th-90th percentile, 0-7 months) after delivery. RESULTS: Pregnant women had higher intakes of fat, niacin and vitamin E than the nutrient reference values, while most micronutrients such as vitamin A, folate, Ca and Zn were reportedly low. Women in the highest education, occupation and household income groups had higher nutrient intakes than those in the lowest groups. Nutrient intake differences also existed by geographic area, residence and maternal age at delivery. Three dietary patterns were identified: balanced pattern, vegetarian pattern and snacks pattern. Participants with high balanced pattern scores tended to be better educated, wealthier, 25-29 years old at delivery, working outside and living in urban areas and central Shaanxi. Women with high scores on the vegetarian pattern and snacks pattern tended to be in low balanced pattern score groups, and had lower nutrient intakes than those in the high balanced pattern score groups. CONCLUSIONS: The study suggested that pregnant women in Shaanxi, China had low intakes of most nutrients such as vitamin A, folate and Ca. Dietary patterns and most nutrient intakes varied by sociodemographic characteristics. Targeted programmes are needed to improve dietary intakes and dietary patterns among sociodemographically disadvantaged groups.

Breast-feeding patterns of ethnic groups in rural western China.

OBJECTIVE: To determine the breast-feeding pattern of four main ethnic groups (the Han, Uygur, Tibetan and Zhuang) living in rural western China. DESIGN: The study utilized a cross-sectional design. SETTING: Forty-five counties in ten provinces in western China in 2005. SUBJECTS: A sample of 11 783 children younger than 36 months old (8960 Han, 1281 Uygur, 792 Tibetan and 750 Zhuang) and their mothers were recruited using a stratified, multistage, cluster random sampling method. RESULTS: The rates of exclusive breast-feeding of children at 6 months of age in the Han, Uygur, Tibetan and Zhuang ethnic groups were 11.6 %, 0.8%, 4.4% and 13.8%, respectively. The rates of any breast-feeding for children at 24 months of age were 8.5%, 25.7%, 3.0% and 4.3% in the four ethnic groups, respectively. After adjusting for related factors, Zhuang children had a higher odds ratio of exclusive breast-feeding to 6 months compared with Han children, whereas Uygur and Tibetan children had lower odds ratio (Zhuang: OR=1.291; 95% CI 1.006, 1.657; Uugur: OR=0.062; 95% CI 0.032, 0.121; Tibetan: OR=0.323; 95% CI 0.220, 0.475). Uygur children had a lower hazard ratio of discontinued breast-feeding compared with Han children, whereas Tibetan children had a higher hazard ratio (Uygur: HR=0.368; 95% CI 0.333, 0.408; Tibetan: HR=1.366; 95% CI 1.244, 1.500). CONCLUSIONS: The breast-feeding pattern differed among the Han, Uygur, Tibetan and Zhuang ethnic groups. The results suggest that health education regarding the benefits of breast-feeding is needed in rural western China.

Prenatal echocardiography diagnosis of a novel combination of bilateral ductus arteriosus and cardiovascular anomalies: a case report and literature review.

Background: Bilateral ductus arteriosus (BDA) is a relatively rare vascular malformation. According to the double arch theory, BDA is formed when the distal ends of the sixth pairs of primitive arches on the left and right sides have not regressed. We describe a fetus with prenatal echocardiographic findings of BDA and right aortic arch mirror-image branching (RAA-MIB) combined with congenital heart disease. Furthermore, to gain a deeper understanding of the embryological mechanism of BDA, we review the literature on all combinations of BDA present in 40 fetuses/infants. Case summary: A 22-year-old female patient underwent fetal echocardiography at 23 weeks of gestation. Both the two-dimensional (2D) grayscale image and color Doppler flow imaging (CDFI) revealed dextro-transposition of the great arteries combined with a ventricular septal defect and RAA-MIB. The following scan revealed a rare vascular ring, which was identified as BDA extending from the confluent of the left pulmonary artery and right pulmonary artery, completely encircling the trachea to form an "O"-shaped vascular ring before finally converging into the descending aorta. A persistent left superior vena cava was also observed. We subsequently used four-dimensional (4D) color Doppler imaging with the spatiotemporal image correlation (STIC) HD live flow and STIC HD live flow silhouette mode to clearly display ventricular arterial connectivity and the direction of vessel travel. Adjusting the image quality and display angle is very important when applying STIC. The 4D images confirmed our diagnosis. After multidisciplinary counseling and discussion with her family, this female patient decided to terminate the pregnancy. Conclusion: Our review of the literature summarized nine combinations classified into three types of BDA and aortic arch pathology. However, our case differs because it is a novel combination of intracardiac structural abnormalities and vascular rings in a fetus. Prenatal ultrasound diagnosis of BDA is important and requires a combination of 2D grayscale, CDFI, and STIC images to assist in scanning.