The global burden of maternal disorders attributable to iron deficiency related sub-disorders in 204 countries and territories: an analysis for the Global Burden of Disease study.

Background: Pregnancy-related anemia presents a significant health concern for approximately 500 million women of reproductive age worldwide. To better prevent maternal disorders, it is essential to understand the impact of iron deficiency across different maternal disorders, regions, age groups, and subcategories. Methods: Based on the comprehensive maternal disorders data sourced from the 2019 Global Burden of Disease study, an investigation was carried out focusing on Disability-Adjusted Life Years (DALYs) associated with iron deficiency spanning the period from 1990 to 2019. In addition, Estimated Annual Percentage Changes (EAPCs) were computed for the duration of the study. Results: Our study indicates decreasing mortality rates and years of life lost due to maternal conditions related to iron deficiency, such as maternal hemorrhage, miscarriage, abortion, hypertensive disorders, and infections. However, mortality rates and years of life lost due to indirect and late maternal deaths, as well as deaths aggravated by HIV/AIDS, have increased in high socio-demographic index (SDI) regions, especially in North America. Moreover, the proportion of maternal deaths aggravated by HIV/AIDS due to iron deficiency is rising globally, especially in Southern Sub-Saharan Africa, Oceania, and Georgia. In addition, in the Maldives, the age-standardized DALYs for maternal disorders attributable to iron deficiency exhibited a notable decreasing trend, encompassing a range of conditions. Furthermore, there was a significant decrease in Disability-Adjusted Life Years rate for miscarriages and preterm births among women aged 15-49, with hypertensive disorders posing the highest burden among women aged 15-39. Conclusion: The burden of maternal disorders caused by iron deficiency is decreasing in most regions and subtypes, except for deaths aggravated by HIV/AIDS. By thoroughly understanding the details of how iron deficiency impacts the health of pregnant women, health policymakers, healthcare professionals, and researchers can more effectively pinpoint and address the root causes of inequalities in maternal health.

Impact of Extracellular Matrix-Related Genes on the Tumor Microenvironment and Prognostic Indicators in Esophageal Cancer: A Comprehensive Analytical Study.

Esophageal cancer is a major global health challenge with a poor prognosis. Recent studies underscore the extracellular matrix (ECM) role in cancer progression, but the full impact of ECM-related genes on patient outcomes remains unclear. Our study utilized next-generation sequencing and clinical data from esophageal cancer patients provided by The Cancer Genome Atlas, employing the R package in RStudio for computational analysis. This analysis identified significant associations between patient survival and various ECM-related genes, including IBSP, LINGO4, COL26A1, MMP12, KLK4, RTBDN, TENM1, GDF15, and RUNX1. Consequently, we developed a prognostic model to predict patient outcomes, which demonstrated clear survival differences between high-risk and low-risk patient groups. Our comprehensive review encompassed clinical correlations, biological pathways, and variations in immune response among these risk categories. We also constructed a nomogram integrating clinical information with risk assessment. Focusing on the TENM1 gene, we found it significantly impacts immune response, showing a positive correlation with T helper cells, NK cells, and CD8+ T cells, but a negative correlation with neutrophils and Th17 cells. Gene Set Enrichment Analysis revealed enhanced pathways related to pancreatic beta cells, spermatogenesis, apical junctions, and muscle formation in patients with high TENM1 expression. This research provides new insights into the role of ECM genes in esophageal cancer and informs future research directions.

Transcriptome analysis shows that Glomus versiforme decrease the accumulation and toxicity of cadmium in Ipomoea aquatic Forsk.

So far, the physiological and molecular mechanisms of the impact of arbuscular mycorrhizal fungus (AMF) on Cd absorption, transport and detoxification in Ipomoea aquatica (water spinach) are still unclear. In the present study, a pot experiment was performed to investigate the impact of AMF-Glomus versiforme (Gv) on the photosynthetic characteristics, Cd uptake, antioxidative system and transcriptome in water spinach in the soils supplemented with 5 mg Cd kg-1. Gv inoculation improved significantly the photosynthetic characteristics and growth of water spinach. Furthermore, Gv colonization significantly promoted the activities of catalase (CAT), peroxidase (POD) and glutathione reductase (GR), contents of glutathione (GSH) and ascorbic acid (AsA), and the total antioxidant capacity (TCA), but decreased malondialdehyde (MDA) content in water spinach. In addition, Gv inoculation significantly increased pH in rhizosphere soils and decreased the Cd concentrations and uptakes in water spinach. Importantly, 2670 differentially expressed genes (DEGs) were screened in water spinach root colonized with Gv in 5 mg Cd kg-1 soil, of which 2008 DEGs were upregulated and 662 DEGs were downregulated. Especially, the expression levels of POD, CAT, GR, dehydroascorbate reductase 2 (DHAR2), glutathione S-transferase U8 (GSTU8) and glutathione synthetase (GSHS) and cytochrome P450 (Cyt P450) genes were significantly up-regulated in water spinach inoculated with Gv. Meanwhile, the plant cadmium resistance protein 2 (PCR2), metal tolerance protein 4 (MTP4), ATP-binding cassette transporter C family member (ABCC), ABC-yeast cadmium factor 1 (ABC-YCF1) and metallothionein (MT) genes were also up-regulated in mycorrhizal water spinach. Our results firstly elucidated the mechanism by which AMF reduced the uptake and phytotoxicity of Cd in water spinach through a transcriptome analysis.

Association between physical activity and adolescent mental health in the post COVID-19: The chain mediating effect of self-esteem and social anxiety.

BACKGROUND: In order to gain a deeper understanding of the relationship between physical activity and adolescent mental health in the post COVID-19 pandemic era, self-esteem and social anxiety were used as mediating variables to explore the potential mechanisms by which physical activity affects adolescent mental health. METHODS: The study used the HELP-II Health Promoting Lifestyle Scale, the SPIN Social Phobia Scale, the Self-Esteem Scale, and the 10-item Kessler Psychological Distress Scale to administer questionnaires to 400 Chinese secondary school students, and SPSS 26.0 and PROCESS 3.3 were used to process the data. RESULTS: The findings showed that (1) physical activity was significantly and positively associated with mental health; (2) self-esteem and social anxiety played a fully mediating role between physical activity and adolescent mental health respectively; (3) self-esteem and social anxiety played a chain mediating role between physical activity and adolescent mental health. CONCLUSION: This study reveals the relationship and influencing mechanism between physical activity and adolescent mental health in the post COVID-19 pandemic era. Appropriate interventions for physical activity, self-esteem, and social anxiety may be beneficial to adolescent mental health. The protective role of self-esteem in adolescent mental health should be the focus of future studies, and further investigations into the association between the COVID-19 and adolescent mental health are warranted.

Glomus versiforme and intercropping with Sphagneticola calendulacea decrease Cd accumulation in maize.

Little information is available on the influence of the compound use of intercropping (IN) and arbuscular mycorrhizal fungus (AMF) on Cd accumulation and the expression of Cd transporter genes in two intercropped plants. A pot experiment was conducted to study the influences of IN and AMF-Glomus versiforme on growth and Cd uptake of two intercropped plants-maize and Cd hyperaccumulator Sphagneticola calendulacea, and the expression of Cd transporter genes in maize in Cd-polluted soils. IN, AMF and combined treatments of IN and AMF (IN + AMF) obviously improved biomass, photosynthesis and total antioxidant capacities of two plants. Moreover, single and compound treatments of IN and AMF evidently reduced Cd contents in maize, and the greatest decreases appeared in the compound treatment. However, Cd contents of S. calendulacea in IN, AMF and IN + AMF groups were notably improved. Furthermore, the single and compound treatments of IN and AMF significantly downregulated the expression levels of Nramp1, HMA1, ABCC1 and ABCC10 in roots and leaves, and the largest decreases were observed in the combined treatment. Our work first revealed that the combined use of IN and AMF appeared to have a synergistic effect on decreasing Cd content by downregulating the expression of Cd transporter genes in maize.

Association between short inter-pregnancy interval and placenta previa and placenta accreta spectrum with respect to maternal age at first cesarean delivery.

OBJECTIVE: To explore the association between inter-pregnancy intervals and placenta previa and placenta accreta spectrum among women who had prior cesarean deliveries with respect to maternal age at first cesarean delivery. METHODS: This retrospective study included clinical data from 9981 singleton pregnant women with a history of cesarean delivery at 11 public tertiary hospitals in seven provinces of China between January 2017 and December 2017. The study population was divided into four groups (<2, 2-5, 5-10, ≥10 years of the interval) according to the inter-pregnancy interval. The rate of placenta previa and placenta accreta spectrum among the four groups was compared, and multivariate logistic regression was used to analyze the relationship between inter-pregnancy interval and placenta previa and placenta accreta spectrum with respect to maternal age at first cesarean delivery. RESULTS: Compared to women aged 30-34 years old at first cesarean delivery, the risk of placenta previa (aRR, 1.48; 95% CI, 1.16-1.88) and placenta accreta spectrum (aRR, 1.74; 95% CI, 1.28-2.35) were higher among women aged 18-24. Multivariate regression results showed that women at 18-24 with <2 years intervals exhibited a 5.05-fold increased risk for placenta previa compared with those with 2-5-year intervals (aRR, 5.05; 95% CI, 1.13-22.51). In addition, women aged 18-24 with less than 2 years intervals had an 8.44 times greater risk of developing PAS than women aged 30-34 with 2 to 5 years intervals (aRR, 8.44; 95% CI, 1.82-39.26). CONCLUSIONS: The findings of this study suggested that short inter-pregnancy intervals were associated with increased risks for placenta previa, and placenta accreta spectrum for women under 25 years at first cesarean delivery, which may be partly attributed to obstetrical outcomes.

A sensitive label-free biosensor based on Ag2S-sensitived Bi2WO6/BiOBr heterojunction for photoelectrochemical immunoassay of prostate specific antigen.

Prostate cancer is one of the most common cancers in the world, and its early diagnosis can effectively reduce mortality. A new label-free photoelectrochemical (PEC) immunosensor on the basis of Bi2WO6/BiOBr nanocomposite materials has been successfully prepared for the test of prostate-specific antigen (PSA) in human serum in this work. The Ag2S-sensitized Bi2WO6/BiOBr heterojunction was used as a photosensitive material, which effectively improved the photocurrent response. On Bi2WO6/BiOBr surface, dopamine immobilized PSA antibody by self-polymerizing to form polydopamine membrane. Antigen and antibody are specifically combined to achieve quantitative detection of PSA according to the current changes at different concentrations of antigen. Under the optimal experimental conditions, the PEC immunosensor has an ideal linear relationship between 1 pg/mL - 50 ng/mL, and the detection limit is 0.084 pg/mL. In addition, the prepared immunosensor has good stability, reproducibility and selectivity, providing a new method for the detection of PSA in actual sample analysis.

Association between dietary patterns during pregnancy and gestational diabetes mellitus / 预防医学

Objective@#To explore the association between dietary patterns during pregnancy and the development of gestational diabetes mellitus (GDM), so as to provide the guidance of diet balance and GDM prevention for pregnant women.@*Methods@#Pregnant women who underwent prenatal examination at the First Affiliated Hospital of Xinjiang Medical University from December 2021 to July 2022 were selected as the subjects. The oral glucose tolerance test (OGTT) was employed at 24 to 28 weeks of gestation to diagnose GDM. The questionnaire of "The Survey on Nutrition and Health of Pregnant Women in China" was used to collect general information, food intake frequency and amount during a month before OGTT. Dietary patterns were determined by factor analysis, and the association between dietary patterns and the development of GDM was identified using a multivariable logistic regression model. @*Results@#Totally 449 pregnant women were included, with a median (interquartile range) age of 31.00 (5.00) years and a median (interquartile range) gestational age of 35.00 (3.00) weeks. There were 7 dietary patterns named potato-cereal pattern, poultry-meat-dessert pattern, milk-egg-aquatic product pattern, mushroom-vegetable-offal pattern, fruit-bean pattern, pickle-wheaten food pattern, and beverage-nut pattern according to the food types with high factor loads. There were 89 cases diagnosed as GDM, with a prevalence rate of 19.82%. Multivariable logistic regression analysis showed that the development of GDM was associated with the poultry-meat-dessert pattern (OR=0.242, 95%CI: 0.086-0.678) and the fruit-bean pattern (OR=0.093, 95%CI: 0.025-0.342), compared with the potato-cereal pattern. @*Conclusion@#Compared to the potato-cereal pattern, the poultry-meat-dessert pattern and the fruit-bean pattern may reduce the risk of GDM. Key words： gestational diabetes mellitus dietary pattern pregnant woman low carbohydrate diet

A novel photoelectrochemical immunosensor based on TiO2@Bi2WO6 hollow microspheres and Ag2S for sensitive detection of SARS-COV-2 nucleocapsid protein.

Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-COV-2) is a cluster of ß coronaviruses. The 2019 coronavirus disease (COVID-19) caused by SARS-COV-2 is emerging as a global pandemic. Thus, early diagnosis of SARS-COV-2 is essential to prevent severe outbreaks of the disease. In this experiment, a novel label-free photoelectrochemical (PEC) immunosensor was obtained based on silver sulfide (Ag2S) sensitized titanium dioxide@bismuth tungstate (TiO2@Bi2WO6) nanocomposite for quantitative detection of SARS-COV-2 nucleocapsid protein. The constructed TiO2@Bi2WO6 hollow microspheres had large specific surface area and could produce high photocurrent intensity under visible light illumination. Ag2S was in-situ grown on the surface of thioglycolic acid (TGA) modified TiO2@Bi2WO6. In particular, TiO2@Bi2WO6 and Ag2S formed a good energy level match, which could effectively enhance the photocurrent conversion efficiency and strength the photocurrent response. Ascorbic acid (AA) acted as an effective electron donor to effectively eliminate photogenerated holes. Under optimal experimental conditions, the constructed immunosensor presented a supersensitive response to SARS-COV-2 nucleocapsid protein, with a desirable linear relationship ranged from 0.001 to 50 ng/mL for nucleocapsid protein and a lower detection limit of 0.38 pg/mL. The fabricated sensor exhibited a wide linear range, excellent selectivity, specificity and stability, which provided a valuable referential idea for the detection of SARS-COV-2.

A label-free photoelectrochemical immunosensor for prostate specific antigen detection based on Ag2S sensitized Ag/AgBr/BiOBr heterojunction by in-situ growth method.

Prostate cancer is one of the most common cancers in the world, and its early detection is vital to saving the lives of patients. In this research, a novel label-free photoelectrochemical immunosensor was designed for sensitive detection of prostate specific antigen (PSA). Ag2S sensitized on Ag/AgBr/BiOBr heterojunction could effectively inhibit photogenic holes recombination and improve photocurrent response and sensitivity. Ascorbic acid was an effective electron donor, which can effectively eliminate photo-generated holes. The photocurrent reduced linearly with the logarithm of PSA concentration ranged from 0.001 to 50 ng·mL-1 and the limit of detection was 0.25 pg·mL-1. The designed sensor had the advantages of wide linear range, good stability, high reproducibility, and good selectivity. This study not only provided a method for efficient and sensitive detection of PSA, but also provided valuable reference ideas for the detection of other tumor markers.

The intercropping and arbuscular mycorrhizal fungus decrease Cd accumulation in upland rice and improve phytoremediation of Cd-contaminated soil by Sphagneticola calendulacea (L.) Pruski.

Little is known about the impact of the combined application of intercropping and arbuscular mycorrhizal fungus (AMF) on the plant growth and Cd accumulation in the two intercropped plants. A greenhouse pot experiment was performed to investigate the effects of intercropping (IC) and AMF-Glomus versiforme (GV) on the growth, photosynthesis, Cd accumulation and antioxidant activities in the two intercropped plants-upland rice and Cd hyperaccumulator Sphagneticola calendulacea (L.) Pruski in the soils added with 5 mg Cd kg-1. It was found that the GV inoculation and the combined treatment of IC and GV (IC + GV) significantly (p < 0.05) increased the biomasses and the P contents of upland rice and S. calendulacea. In addition, the Cd concentrations and uptakes of plants in IC, GV and IC + GV treatments were significantly (p < 0.05) dropped in upland rice but increased in S. calendulacea compared with the monocropping control, and the compound treatment showed better effect on decreasing Cd accumulation in upland rice (especially grains) and increasing Cd uptake by S. calendulacea compared with the single intercropping or AMF treatment. Moreover, IC, GV and IC + GV treatments significantly (p < 0.05) improved the net photosynthetic rate, stomatal conductance and transpiration rate of the two intercropped plants. Finally, IC, GV and IC + GV treatments all significantly increased the catalase activities and total antioxidant capacities, while decreased the malondialdehyde contents in upland rice and S. calendulacea. The present work could provide a feasible strategy for safe production of upland rice and phytoremediation of Cd contaminated soils.

Probability of severe postpartum hemorrhage in repeat cesarean deliveries: a multicenter retrospective study in China.

To determine the factors predicting the probability of severe postpartum hemorrhage (SPPH) in women undergoing repeat cesarean delivery (RCD). This multicenter, retrospective cohort study involved women who underwent RCD from January 2017 to December 2017, in 11 public tertiary hospitals within 7 provinces of China. The all-variables model and the multivariable logistic regression model (pre-operative, operative and simple model) were developed to estimate the probability of SPPH in development data and external validated in validation data. Discrimination and calibration were evaluated and clinical impact was determined by decision curve analysis. The study consisted of 11,074 women undergoing RCD. 278 (2.5%) women experienced SPPH. The pre-operative simple model including 9 pre-operative features, the operative simple model including 4 pre-operative and 2 intraoperative features and simple model including only 4 closely related pre-operative features showed AUC 0.888, 0.864 and 0.858 in development data and 0.921, 0.928 and 0.925 in validation data, respectively. Nomograms were developed based on predictive models for SPPH. Predictive tools based on clinical characteristics can be used to estimate the probability of SPPH in patients undergoing RCD and help to allow better preparation and management of these patients by using a multidisciplinary approach of cesarean delivery for obstetrician.

Maternal age at first cesarean delivery related to adverse pregnancy outcomes in a second cesarean delivery: a multicenter, historical, cross-sectional cohort study.

BACKGROUND: To determine the effects of maternal age at first cesarean on maternal complications and adverse outcomes of pregnancy with the second cesarean. METHODS: This was a multicenter, historical, cross-sectional cohort study involving singleton pregnancies ≥28 gestational weeks, with a history of 1 cesarean delivery, and who underwent a second cesarean between January and December 2017 at 11 public tertiary hospitals in 7 provinces of China. We analyzed the effects of maternal age at first cesarean on adverse outcomes of pregnancy in the second cesarean using multivariate logistic regression analysis. RESULTS: The study consisted of 10,206 singleton pregnancies. Women were at first cesarean between 18 and 24, 25-29, 30-34, and ≥ 35 years of age; and numbered 2711, 5524, 1751, and 220 cases, respectively. Maternal age between 18 and 24 years at first cesarean increased the risk of placenta accreta spectrum (aOR, 1.499; 95% CI, 1.12-2.01), placenta previa (aOR, 1.349; 95% CI, 1.07-1.70), intrahepatic cholestasis of pregnancy (aOR, 1.947; 95% CI, 1.24-3.07), postpartum hemorrhage (aOR, 1.505; 95% CI, 1.05-2.16), and blood transfusion (aOR, 1.517; 95% CI, 1.21-1.91) in the second cesarean compared with the reference group (aged 25-29 years). In addition, maternal age ≥ 35 years at first cesarean was a risk factor for premature rupture of membranes (aOR, 1.556; 95% CI, 1.08-2.24), placental abruption (aOR, 6.464, 95% CI, 1.33-31.51), uterine rupture (aOR, 7.952; 95% CI, 1.43-44.10), puerperal infection (aOR, 6.864; 95% CI, 1.95-24.22), neonatal mild asphyxia (aOR, 4.339; 95% CI, 1.53-12.32), severe asphyxia (aOR, 18.439; 95% CI, 1.54-220.95), and admission to a neonatal intensive care unit (aOR, 2.825; 95% CI, 1.54-5.17) compared with the reference group (aged 25-29 years). CONCLUSIONS: Maternal age between 18 and 24 years or advanced maternal age at first cesarean was an independent risk factor for adverse maternal outcomes with the second cesarean. Advanced maternal age at the first cesarean specifically increased adverse neonatal outcomes with the second. Therefore, decisions as to whether to perform a first cesarean at a young or advanced maternal age must be critically evaluated.

Development and Validation of Predictive Models for Vaginal Birth After Cesarean Delivery in China.

BACKGROUND The rate of delivery by cesarean section is rising in China, where vaginal birth after cesarean (VBAC) is in its early stages. There are no validated screening tools to predict VBAC success in China. The objective of this study was to identify the variables predicting the likelihood of successful VBAC to create a predictive model. MATERIAL AND METHODS This multicenter, retrospective study included 1013 women at ≥28 gestational weeks with a vertex singleton gestation and 1 prior low-transverse cesarean from January 2017 to December 2017 in 11 public tertiary hospitals within 7 provinces of China. Two multivariable logistic regression models were developed: (1) at a first-trimester visit and (2) at the pre-labor admission to hospital. The models were evaluated with the area under the receiver operating characteristic curve (AUC) and internally validated using k-fold cross-validation. The pre-labor model was calibrated and a graphic nomogram and clinical impact curve were created. RESULTS A total of 87.3% (884/1013) of women had successful VBAC, and 12.7% (129/1013) underwent unplanned cesarean delivery after a failed trial of labor. The AUC of the first-trimester model was 0.661 (95% confidence interval [CI]: 0.61-0.712), which increased to 0.758 (95% CI: 0.715-0.801) in the pre-labor model. The pre-labor model showed good internal validity, with AUC 0.743 (95% CI: 0.694-0.785), and was well calibrated. CONCLUSIONS VBAC provides women the chance to experience a vaginal delivery. Using a pre-labor model to predict successful VBAC is feasible and may help choose mode of birth and contribute to a reduction in cesarean delivery rate.

A label-free photoelectrochemical immunosensor for detection of the milk allergen ß-lactoglobulin based on Ag2S -sensitized spindle-shaped BiVO4/BiOBr heterojunction by an in situ growth method.

Food allergies have become a nonnegligible food safety issue, and milk allergies are one of the most common food allergies, that has attracted large consumer attention. In this work, a novel label-free photoelectrochemical (PEC) immunosensor for the detection of the allergen ß-lactoglobulin (ß-LG) in dairy products was designed that used the specific recognition of allergen ß-LG and antibodies in dairy products in combination with biosensing technology. Here, Ag2S-sensitized spindle-shaped BiVO4/BiOBr heterojunction was fixed on the surface of the ITO electrode as an excellent photoactive substrate and effectively improved the photocurrent responses and sensitivity. Thioglycolic acid (TGA) was used as a linker to immobilize the ß-LG antibody on the surface of the electrode. The photocurrent was detected at different antigen concentrations, which realized the quantitative testing of ß-LG. Under the optimal experimental conditions, the PEC immunosensor proved an ideal linear relationship ranging from 10 pg/mL to 100 ng/mL, with a low detection limit of 3.7 pg/mL. The designed immunosensor showed good stability, a wide linear range, high sensitivity and good reproducibility and could be used for the detection of actual samples. The PEC immunosensor had a strong ability to specifically recognize ß-LG, which was not affected by other proteins in the milk without pretreatment. Meanwhile, the developed immunosensor provided a promising PEC detection platform and reference idea for the detection of other proteins in milk.

Noninvasive prenatal testing for fetal subchromosomal copy number variations and chromosomal aneuploidy by low-pass whole-genome sequencing.

BACKGROUND: Expanding noninvasive prenatal testing (NIPT) to include the detection of fetal subchromosomal copy number variations (CNVs) significantly decreased the sensitivity and specificity. Developing analytic pipeline to achieve high performance in the noninvasive detection of CNVs will largely contribute to the application of CNVs screening in clinical practice. METHODS: We developed the Noninvasively Prenatal Subchromosomal Copy number variation Detection (NIPSCCD) method based on low-pass whole-genome sequencing, and evaluated its efficacy in detecting fetal CNVs and chromosomal aneuploidies with 20,003 pregnant women. RESULTS: Totally, NIPSCCD identified 36 CNVs, including 29 CNVs consistent and 7 CNVs inconsistent with amniocytes tests. Additionally, seven fetal CNVs identified by amniocytes testing were undetected by NIPSCCD. The sensitivities for detecting CNVs > 10 Mb, 5 Mb-10 Mb, and CNVs < 5 Mb were 91.67%, 100.00%, and 68.42%, respectively. Moreover, NIPSCCD identified 103/ true positive trisomy 21/18/13 cases and 21 false positives, producing an overall 100.00% sensitivity and 99.89% specificity. CONCLUSION: NIPSCCD showed a good performance in detecting fetal subchromosomal CNVs, especially for CNVs >10 Mb, and can be incorporated into the routine NIPT chromosomal aneuploidies screening with high sensitivity and specificity.

Statistical Approach to Decreasing the Error Rate of Noninvasive Prenatal Aneuploid Detection caused by Maternal Copy Number Variation.

Analyses of cell-free fetal DNA (cff-DNA) from maternal plasma using massively parallel sequencing enable the noninvasive detection of feto-placental chromosome aneuploidy; this technique has been widely used in clinics worldwide. Noninvasive prenatal tests (NIPT) based on cff-DNA have achieved very high accuracy; however, they suffer from maternal copy-number variations (CNV) that may cause false positives and false negatives. In this study, we developed an algorithm to exclude the effect of maternal CNV and refined the Z-score that is used to determine fetal aneuploidy. The simulation results showed that the algorithm is robust against variations of fetal concentration and maternal CNV size. We also introduced a method based on the discrepancy between feto-placental concentrations to help reduce the false-positive ratio. A total of 6615 pregnant women were enrolled in a prospective study to validate the accuracy of our method. All 106 fetuses with T21, 20 with T18, and three with T13 were tested using our method, with sensitivity of 100% and specificity of 99.97%. In the results, two cases with maternal duplications in chromosome 21, which were falsely predicted as T21 by the previous NIPT method, were correctly classified as normal by our algorithm, which demonstrated the effectiveness of our approach.

[Association between estrogen receptor beta gene polymorphism and intrahepatic cholestasis of pregnancy in the Uygurs and the Hans pregnant women].

OBJECTIVE: To investigate the distribution of estrogen receptor beta (ERbeta) gene polymorphisms between the Uygurs and the Hans in Urumqi and the association of the polymorphisms with intrahepatic cholestasis of pregnancy (ICP). METHODS: ICP cases and controls from a hospital were recruited from April 2008 to April 2011,and a total of 105 ICP patients in Uygurs case group and 105 ICP patients in Hans case group were randomly selected, meanwhile, 105 Uygurs and 105 Hans healthy pregnant women were recruited as control group. The distribution of Rsa I and Alu I of ERbeta gene polymorphism were analyzed by PCR amplification and restriction and other molecular biology approaches. Data were analyzed by chi2 and Fisher exact probability. RESULTS: In Uygurs case group, the genotype frequencies of rr, Rr,RR,aa, Aa and AA were 39.0% (41 cases), 50.5% (53 cases), 10.5% (11 cases), 62.7% (66 cases), 30.5% (32 cases), 6.8% (7 cases). In Uygurs control group, the frequencies were 21.0% (22 cases), 56.2% (59 cases), 22.8% (24 cases), 80.0% (84 cases), 18.1% (19 cases), 1.9% (2 cases). In Hans case group, the genotype frequencies of rr, Rr, RR, aa, Aa and AA were 40. 0% (42 cases), 45.7% (48 cases), 14.3% (15 cases), 66.7% (70 cases), 29.5% (31 cases), 3.8% (4 cases). In Hans control group,the frequencies were 29.5% (31 cases), 57.2% (60 cases), 13.3% (14 cases), 74.2% (78 cases), 23.8% (25 cases), 2.0% (2 cases). The genotype frequencies were not statistically significant between the two case groups and between the two control groups (all P values > 0.05), and between two Hans groups (P > 0.05). The frequencies of RRaa in the Uygur case group was lower(4. 76% ,5 cases)than control group (13.33%, 14 cases) (P <0.05), while the frequencies of rrAa in the Uygur case group was significantly higher (14. 29% ,15 cases)than control group (2.86%, 3 cases) (all P values < 0.05). CONCLUSION: The distribution of ERbeta gene polymorphism is of no significant difference between the Uygurs and Hans, ERbeta gene polymorphism may correlate with pathogenesis of ICP in the Uygurs other than in the Hans, and rrAa might be risk factor for ICP in the Uygurs.

[Relationship between p53, bax and bcl-2 expression and cell apoptosis in intrahepatic cholestasis of pregnancy].

OBJECTIVE: To investigate the changes of gene p53, bax and bcl-2 expression and to study the role on cell apoptosis in placenta through apoptosis in placenta with intrahepatic cholestasis of pregnancy (ICP). METHODS: TdT-mediated dUTP nick end labeling (TUNEL) and immuno-histochemistry methods were used for 31 placental samples with ICP and 31 normal placental samples to detect apoptosis index and the expression of p53, bax and bcl-2 in placenta tissues. RESULTS: The apoptosis index in placental cytotrophoblast, syncytiotrophoblast, decidual cells and mediate cell on ICP group was significantly higher than that in control group (P < 0.01). The expression of p53 was higher than those of control. Bax expression in syncytoitrophoblast, decidual cell and mediate cell in ICP group was higher (P < 0.01), but the expression of bax in placental cytotrophoblast cell was not significantly higher (P > 0.05). The expression of bcl-2 of these positions in ICP group was lower than that in control group (P < 0.01) p53, bax and bcl-2 expressions in (chi +/- s)% in the syncytoitrophoblast cells of placenta with ICP is 75.9 +/- 8.2, 65.8 +/- 13.8, 45.3 +/- 11.3. CONCLUSION: The placental dysfunction may closely relate to the apoptosis. Abnormal overexpression of p53, bax and the low expression of bcl-2 on placental tissue of ICP was the main reason of placental apoptosis.