Descriptive epidemiology of gastroschisis in China from 2007 to 2020: a nationwide surveillance-based study.

BACKGROUND: Gastroschisis is a common abdominal wall defect that increases infant mortality risk and health care costs. However, recent epidemiological data on gastroschisis in China is limited. METHODS: Using 2007-2020 data from the Chinese Birth Defects Monitoring Network (CBDMN), we analyzed gastroschisis prevalence rates stratified by birth year, maternal age group, residence area, geographical region, and infant sex. We also examined the temporal variations in prevalence, pregnancy outcomes of affected infants, prenatal diagnoses, and co-occurring anomalies. RESULTS: From 2007 to 2020, a total of 6,813 cases of gastroschisis were identified among 25,909,000 births, comprising 4,675 isolated and 2,138 non-isolated cases. Prevalence rates per 10,000 live and still births were 2.63, 1.80, and 0.83 for the overall, isolated, and non-isolated gastroschisis, respectively, all showing a decreasing trend over the study period. The prevalence of overall gastroschisis varied significantly by maternal age (< 20 years, 9.88/10,000; 20-24 years, 4.17/10,000; 25-29 year, 2.08/10,000; 30-34 years, 1.88/10,000;≥35 years, 2.24/10,000), maternal residence (urban, 2.45/10,000; rural, 2.85/10,000), geographic region (central, 2.54/10,000; east, 2.57/10,000; west, 2.80/10,000), and infant sex (male, 2.13/10,000; female, 1.79/10,000). Non-isolated gastroschisis cases had a higher early neonatal mortality rate than isolated cases (41.91% vs. 28.10%) and frequently co-occurred with musculoskeletal anomalies. CONCLUSIONS: This study highlights a declining trend in gastroschisis prevalence in Chinese population, a contrast to previous studies, and underscores the need for improved perinatal management due to adverse pregnancy outcomes associated with this condition.

Oxygen- and proton-transporting open framework ionomer for medium-temperature fuel cells.

Medium-temperature proton exchange membrane fuel cells (MT PEMFCs) operating at 100° to 120°C have improved kinetics, simplified thermal and water management, and broadened fuel tolerance compared with low-temperature PEMFCs. However, high temperatures lead to Nafion ionomer dehydration and exacerbate gas transportation limitations. Inspired by osmolytes found in hyperthermophiles, we developed α-aminoketone-linked covalent organic framework (COF) ionomers, interwoven with Nafion, to act as "breathable" proton conductors. This approach leverages synergistic hydrogen bonding to retain water, enhancing hydration and proton transport while reducing oxygen transport resistance. For commercial Pt/C, the MT PEMFCs achieved peak and rated power densities of 18.1 and 9.5 Watts per milligram of Pt at the cathode at 105°C fueled with H2 and air, marking increases of 101 and 187%, respectively, compared with cells lacking the COF.

Ultrafast Response and Broad Detection Range of a Ternary Cation Perovskite Single-Crystal Thin Film Photodetector for Imaging.

FA-MA-Cs ternary cation perovskite exhibits excellent optoelectronic properties and high stabilities against humidity and light soaking and thus has aroused extensive attention in polycrystalline thin film solar cells. Compared with polycrystalline counterparts, FA-MA-Cs ternary cation perovskite single-crystal thin films (SCTFs) have lower defects, better carrier transport capacity, and stability because of lacking grain boundary defects. However, the immature growth technology of SCTFs restricts digging out its optoelectronic potential. Here, we proposed an improved space-confined method to grow large area FA0.9 MA0.05Cs0.05PbI2.7Br0.3 SCTFs using a tunable heating area to control the nucleation and growth process. Its area reaches 64 mm2 with a thickness of 26 µm. The SCTF exhibits high crystallinity, low defect density, long carrier lifetime, and high moisture resistance stability. Besides, a photosensitive chip based on a planar metal-semiconductor-metal photodetector demonstrates linear response to the three primary colors, with a photosensitive range that is 1.5 times that of protocol 3 wide color gamut. Under high-frequency light sources, the on/off ratio reaches 3.9 × 103, and the response time can be as low as 400 ns. Such ultrafast response speed and broad photosensitive range are successfully achieved for imaging applications.

Global burden of osteoarthritis: Prevalence and temporal trends from 1990 to 2019.

OBJECTIVE: To investigate the age-standardized prevalence rate (ASPR) and temporal trends for hip, knee, hand, and other osteoarthritis (OA) at a global, continental, and national level. DESIGN: The estimates and 95% uncertainty intervals (UIs) for case number and ASPR of OA were derived from the Global Burden of Diseases Study (GBD) 2019. The joinpoint regression analysis was utilized to examine the temporal trends from 1990 to 2019. RESULTS: In 2019, the global ASPR of hip, knee, hand, and other OA was 400.95 (95% UI: 312.77-499.41), 4375.95 (95% UI: 3793.04-5004.9), 1726.38 (95% UI: 1319.91-2254.85), and 745.62 (95% UI: 570.16-939.8). As for the ASPR of hip OA, hand OA, and other OA, Europe and America had higher rates than Asia and Africa, and Asia was second only to America in knee OA ASPRs. The period 1990-2019, the ASPR at global level dropped significantly for hand OA (AAPC = -0.4%, 95% CI: -0.47 to -0.34) and increased significantly for hip OA (AAPC = 0.43%, 95% CI: 0.39-0.46), knee OA (AAPC = 0.17%, 95% CI: 0.09-0.24) and other OA (AAPC = 0.16%, 95% CI: 0.15-0.17). Different continents, countries, and periods demonstrated significant changes. CONCLUSIONS: Globally, America has the highest OA burden and Asia has a higher knee OA burden. Appropriate prevention and control measures to reduce modifiable risk factors are needed to reduce the burden of OA.

Associations between PM2.5, ambient heat exposure and congenital hydronephrosis in southeastern China.

Objectives: This research aims to analyze how exposure to fine particulate matter (PM2.5) and ambient heat during pregnancy increases the risk of congenital hydronephrosis (CH) in newborns. Methods: A case-control study was conducted to investigate the relationship between exposure to PM2.5 and ambient heat during pregnancy and the occurrence of CH in newborns. The study, which was conducted from 2015 to 2020, included 409 infants with CH as the case group and 409 infants without any abnormalities as the control group. Using spatial remote sensing technology, the exposure of each pregnant mother to PM2.5 concentration was meticulously mapped. Additionally, data on the ambient temperature of exposure for each participant were also collected. A logistics regression model was used to calculate the influence of exposure to PM2.5 and ambient heat on the occurrence of CH. Stratified analysis and interaction analysis were used to study the interaction between ambient heat exposure and PM2.5 on the occurrence of CH. Results: At the 6th week of gestation, exposure to PM2.5 may increase the risk of CH. For every 10 µg/m3 increase in PM2.5 exposure, the risk of CH increased by 2% (95%CI = 0.98, 1.05) at a p-value of >0.05, indicating that there was no significant relationship between the results. Exposure to intense heat at 6th and 7th weeks of gestation increased the risk of CH. Specifically, for every 1°C increase in heat exposure, the risk of CH in offspring increased by 21% (95%CI = 1.04, 1.41) during the 6th week and 13% during the 7th week (95%CI = 1.02, 1.24). At 5th and 6th weeks of gestation, the relative excess risk due to interaction (RERI) was greater than 0 at the 50th percentile (22.58°C), 75th percentile (27.25°C), and 90th percentile (29.13°C) of daily maximum temperature (Tmax) distribution, indicating that the risk of CH was higher when exposed to both ambient heat and PM2.5 at the same time compared to exposure to a single risk factor. Conclusion: Exposure to higher levels of PM2.5 and ambient heat during pregnancy increases the risk of CH in infants. There was a positive interaction between exposure to intense heat and high concentration of PM2.5 on the occurrence of CH.

The control rate of hypertension across months of year and hours of day in a large real-world database.

We investigated the control rate of hypertension across months of year and hours of day in a real-world database. The study participants were hypertensive patients from 142 community health centers across 16 districts in Shanghai, China, who measured their blood pressure with an automatic office blood pressure measurement platform between 2018 and 2023. The 343,400 hypertensive patients included 53.7% of women, and had average age of 70.2 (±8.1) years (range 50-90 years). For months of year, the control rate of hypertension was lowest in February and highest in August (51.9% vs 71.8%). For hours of day, the control rate of hypertension was lowest at 7:00 AM and highest at 12:00 PM (52.1% vs 76.0%). When the months of year and hour of day were considered together, the control rate was lowest at 7 AM in February (42.1%), and highest at 12 PM in July (86.8%). In 8516 patients who had uncontrolled blood pressure in the early morning and had their blood pressure also measured around noon, 45.7% had masked uncontrolled morning hypertension, with higher rates in spring and summer, and in women, those aged 50-69 years, and non-diabetic patients. The control rate of hypertension varies greatly across months of year and hours of day, suggesting that the evaluation of blood pressure control has to take into full consideration the measurement time in terms of months and hours.

AMPK Attenuation of ß-Adrenergic Receptor-Induced Cardiac Injury via Phosphorylation of ß-Arrestin-1-ser330.

BACKGROUND: ß-adrenergic receptor (ß-AR) overactivation is a major pathological cue associated with cardiac injury and diseases. AMPK (AMP-activated protein kinase), a conserved energy sensor, regulates energy metabolism and is cardioprotective. However, whether AMPK exerts cardioprotective effects via regulating the signaling pathway downstream of ß-AR remains unclear. METHODS: Using immunoprecipitation, mass spectrometry, site-specific mutation, in vitro kinase assay, and in vivo animal studies, we determined whether AMPK phosphorylates ß-arrestin-1 at serine (Ser) 330. Wild-type mice and mice with site-specific mutagenesis (S330A knock-in [KI]/S330D KI) were subcutaneously injected with the ß-AR agonist isoproterenol (5 mg/kg) to evaluate the causality between ß-adrenergic insult and ß-arrestin-1 Ser330 phosphorylation. Cardiac transcriptomics was used to identify changes in gene expression from ß-arrestin-1-S330A/S330D mutation and ß-adrenergic insult. RESULTS: Metformin could decrease cAMP/PKA (protein kinase A) signaling induced by isoproterenol. AMPK bound to ß-arrestin-1 and phosphorylated Ser330 with the highest phosphorylated mass spectrometry score. AMPK activation promoted ß-arrestin-1 Ser330 phosphorylation in vitro and in vivo. Neonatal mouse cardiomyocytes overexpressing ß-arrestin-1-S330D (active form) inhibited the ß-AR/cAMP/PKA axis by increasing PDE (phosphodiesterase) 4 expression and activity. Cardiac transcriptomics revealed that the differentially expressed genes between isoproterenol-treated S330A KI and S330D KI mice were mainly involved in immune processes and inflammatory response. ß-arrestin-1 Ser330 phosphorylation inhibited isoproterenol-induced reactive oxygen species production and NLRP3 (NOD-like receptor protein 3) inflammasome activation in neonatal mouse cardiomyocytes. In S330D KI mice, the ß-AR-activated cAMP/PKA pathways were attenuated, leading to repressed inflammasome activation, reduced expression of proinflammatory cytokines, and mitigated macrophage infiltration. Compared with S330A KI mice, S330D KI mice showed diminished cardiac fibrosis and improved cardiac function upon isoproterenol exposure. However, the cardiac protection exerted by AMPK was abolished in S330A KI mice. CONCLUSIONS: AMPK phosphorylation of ß-arrestin-1 Ser330 potentiated PDE4 expression and activity, thereby inhibiting ß-AR/cAMP/PKA activation. Subsequently, ß-arrestin-1 Ser330 phosphorylation blocks ß-AR-induced cardiac inflammasome activation and remodeling.

Applications of intelligent technology in the evaluation of mutagenicity.

Bioassays are widely used in assessment of mutagenicity. Alternative methods have also been developed, including "intelligent evaluation", which depends on the quality of data, strategies, and techniques. CISOC-PSMT is an Ames test prediction system. The strategies and techniques for intelligent evaluation and four applications of CISOC-PSMT are presented; roles in pesticide management, environmental protection, drug discovery, and safety management of chemicals are introduced.

Prevalence of congenital cryptorchidism in China: A nationwide population-based surveillance study, 2007-2021.

BACKGROUND: Despite cryptorchidism being a common genital abnormality in male newborns with significant prevalence variations globally, there is a notable scarcity of epidemiological data on this condition in China. OBJECTIVE: This study aimed to delineate the prevalence pattern of cryptorchidism in Chinese population over the past 15 years using nationwide surveillance data. MATERIALS AND METHODS: Data from the China National Population-based Birth Defects Surveillance System (2007-2021) were analyzed to calculate the prevalence rates of cryptorchidism, stratified by birth year, maternal age, maternal residence, and geographic region. Adjusted prevalence rate ratios were computed using Poisson regression, while trends in prevalence and average annual percent change (AAPC) were assessed using the joinpoint regression model. RESULTS: During the study period, a total of 1,833 cases of cryptorchidism were identified among 2,565,964 full-term male births, resulting in prevalence rates of 7.14, 5.60, and 1.54 per 10,000 births for overall, isolated, and associated cryptorchidism, respectively. The overall prevalence increased from 3.86 to 11.20 per 10,000 births, with an AAPC of 7.9% (95% confidence interval: 5.5-11.0). Significant variations were observed across maternal age (< 20 years, 7.62/10,000; 20-24 years, 6.14/10,000; 25-29 years, 6.96/10,000; 30-34 years, 7.48/10,000; ≥35 years, 9.22/10,000), maternal residence (urban vs. rural, 10.99/10,000 vs. 2.86/10,000), and geographic region (eastern, 12.38/10,000; central, 2.36/10,000; western, 2.63/10,000). Approximately one-third of cryptorchidism cases were bilaterally, while two-thirds were unilateral. Commonly observed associated abnormalities included congenital hydrocele testis, as well as anomalies in the genital organs, circulatory system, and musculoskeletal system. CONCLUSION: Despite lower rates compared to other countries, the increasing trend in prevalence of cryptorchidism necessitates further investigation and intervention.

Bis-sulfonamido-2-phenylbenzoxazoles Validate the GroES/EL Chaperone System as a Viable Antibiotic Target.

We recently reported on small-molecule inhibitors of the GroES/GroEL chaperone system as potential antibiotics against Escherichia coli and the ESKAPE pathogens but were unable to establish GroES/GroEL as the cellular target, leading to cell death. In this study, using two of our most potent bis-sulfonamido-2-phenylbenzoxazoles (PBZs), we established the binding site of the PBZ molecules using cryo-EM and found that GroEL was the cellular target responsible for the mode of action. Cryo-EM revealed that PBZ1587 binds at the GroEL ring-ring interface (RRI). A cellular reporter assay confirmed that PBZ1587 engaged GroEL in cells, but cellular rescue experiments showed potential off-target effects. This prompted us to explore a closely related analogue, PBZ1038, which is also bound to the RRI. Biochemical characterization showed potent inhibition of Gram-negative chaperonins but much lower potency of chaperonin from a Gram-positive organism, Enterococcus faecium. A cellular reporter assay showed that PBZ1038 also engaged GroEL in cells and that the cytotoxic phenotype could be rescued by a chromosomal copy of E. faecium GroEL/GroES or by expressing a recalcitrant RRI mutant. These data argue that PBZ1038's antimicrobial action is exerted through inhibition of GroES/GroEL, validating this chaperone system as an antibiotic target.

Maternal PM2.5 exposure and hypospadias risk in Chinese offspring: Insights from a nationwide surveillance-based study.

Research on the association between maternal PM2.5 exposure and hypospadias risk in male offspring, particularly in highly polluted areas, has been limited and inconsistent. This study leveraged data from China's National Population-based Birth Defects Surveillance System spanning the years 2013 to 2019, and employed sophisticated machine learning models to estimate daily PM2.5 levels and other pollutants for mothers at a 1-km resolution and a 6-km buffer surrounding maternal residences. Multivariate logistic regression analyses were performed to evaluate the relationship between PM2.5 exposure and hypospadias risk. For sensitivity analyses, stratification analysis was conducted, and models for one-pollutant and two-pollutants, as well as distributed lag nonlinear models, were constructed. Of the 1194,431 boys studied, 1153 cases of hypospadias were identified. A 10 µg/m3 increase in maternal PM2.5 exposure during preconception and the first trimester was associated with an elevated risk of isolated hypospadias, with Odds Ratios (ORs) of 1.102 (95% CI: 1.023-1.188) and 1.089 (95% CI: 1.007-1.177) at the 1-km grid, and 1.122 (95% CI: 1.034-1.218) and 1.143 (95% CI: 1.048-1.246) within the 6-km buffer. Higher quartiles of PM2.5 exposure were associated with increased odds ratios compared to the lowest quartile. These findings highlight a significant association between PM2.5 exposure during the critical conception period and an elevated risk of isolated hypospadias in children, emphasizing the need for targeted interventions to reduce PM2.5 exposure among expectant mothers.

Women's experiences with Centering-Based Group Care in Zhejiang China: A pilot study.

BACKGROUND: The group prenatal care model, which caters to women with low medical needs but high support needs, has become a highly prevalent and innovative approach implemented globally. For Centering-Based Group Care (CBGC) to remain effective, women's evaluations of the quality of care and perspectives about the model are crucial. AIM: This study aimed to describe women's appraisal of CBGC quality and explore the experiences of women in the mixed-methods pilot study conducted in Zhejiang, China. METHODS: From August 2021 to December 2022, 20 women provided complete quantitative data using the Quality of Prenatal Care Questionnaire before hospital discharge. Semi-structured interviews were conducted at 6 months postpartum. Qualitative data were analysed using Colaizzi's method. FINDINGS: The mean (standard deviation) total score (of the 5) of the questionnaire was 4.43 (0.1) with a good quality of CBGC. Qualitative research identified five themes: motivations and concerns for participation, the appeal of interactive learning, the development of community ties and social support, healing from psychological trauma with CBGC, and suggestions for CBGC enhancement. DISCUSSION: Women rated CBGC quality as good and benefited significantly from it in the study. As a new alternative option, the women's accounts suggested that CBGC performed excellently in enhancing knowledge, strengthening social bonds, and providing psychological support. CONCLUSION: CBGC quality cannot be determined based on limited the sample size. This pilot study provides evidence regarding the beneficial effects of knowledge, socialization, and psychological healing on CBGC. Further research is suggested to measure CBGC effectiveness and quality.

Joint effects of green space and air pollutant exposure on preterm birth: evidence from a nationwide study in China.

An association between green space exposure and preterm birth has been reported. However, evidence on the joint effects of air pollutant and green space exposure on preterm birth from nationwide research is limited in China. Based on a nationwide cohort, this study aims to explore the effect of green space exposure on preterm birth and analyze the joint effects of green space and air pollutant. Logistic regression models were developed to analyze the effects of green space exposure, and interaction effects were evaluated by adding interaction terms between green space and air pollutants. From 2013 to 2019, this study included 2,294,188 records of newborn births, of which 82,921 were preterm births. The results show that for buffer zones with 250 m, 500 m, 1000 m, and 1500 m, every 0.1 unit increase in NDVI exposure was associated with a decrease in the risk of preterm birth by 5.5% (95% CI: 4.6-6.4%), 5.8% (95% CI: 4.9-6.6%), 6.1% (95% CI: 5.3-7.0%), and 5.6% (95% CI: 4.7-6.5%), respectively. Under high-level exposure to air pollutants, high-level NDVI exposure was more strongly negatively correlated with preterm birth than low-level NDVI exposure. High-level green space exposure might mitigate the adverse effect of air pollutants on preterm birth by promoting physical activity, reducing stress, and adsorbing pollutants. Further investigation is needed to explore how green space and air pollution interact and affect preterm birth, in order to improve risk management and provide a reference for newborn health.

Aberrant expression of thyroidal hormone receptor α exasperating mitochondrial dysfunction induced sarcopenia in aged mice.

Disrupted mitochondrial dynamics and mitophagy contribute to functional deterioration of skeletal muscle (SM) during aging, but the regulatory mechanisms are poorly understood. Our previous study demonstrated that the expression of thyroid hormone receptor α (TRα) decreased significantly in aged mice, suggesting that the alteration of thyroidal elements, especially the decreased TRα, might attenuate local THs action thus to cause the degeneration of SM with aging, while the underlying mechanism remains to be further explored. In this study, decreased expression of myogenic regulators Myf5, MyoD1, mitophagy markers Pink1, LC3II/I, p62, as well as mitochondrial dynamic factors Mfn1 and Opa1, accompanied by increased reactive oxygen species (ROS), showed concomitant changes with reduced TRα expression in aged mice. Further TRα loss- and gain-of-function studies in C2C12 revealed that silencing of TRα not only down-regulated the expression of above-mentioned myogenic regulators, mitophagy markers and mitochondrial dynamic factors, but also led to a significant decrease in mitochondrial activity and maximum respiratory capacity, as well as more mitochondrial ROS and damaged mitochondria. Notedly, overexpression of TRα could up-regulate the expression of those myogenic regulators, mitophagy markers and mitochondrial dynamic factors, meanwhile also led to an increase in mitochondrial activity and number. These results confirmed that TRα could concertedly regulate mitochondrial dynamics, autophagy, and activity, and myogenic regulators rhythmically altered with TRα expression. Summarily, these results suggested that the decline of TRα might cause the degeneration of SM with aging by regulating mitochondrial dynamics, mitophagy and myogenesis.

Status and predictors of readiness for hospital discharge in women with caesarean section: A latent profile analysis.

BACKGROUND: Women undergoing caesarean section (CS) experience difficulties when preparing for discharge, and readiness for hospital discharge (RHD) may depend on individual characteristics. OBJECTIVE: To explore the status of RHD in women with CS, identify the latent classes of RHD, and analyse predictors from a bio-psycho-social perspective. METHODS: A sample of 410 women with CS completed the following questionnaires on demographic and obstetric characteristics: Readiness for Hospital Discharge Study-New Mother Form (RHDS-NMF), Parents' Postnatal Sense of Security (PPSS), Quality of Discharge Teaching Scale (OB-QDTS), and Postpartum Support Questionnaire (PSQ). Latent profile analysis was used to identify the latent classes of RHD. Multiple logistic regression analysis was used to analyse the predictors. RESULTS: In total, 96.6 % of women with CS reported discharge ready, and the score of RHDS-NMF was 136.09 ± 25.59. Three latent classes were identified as Low RHD (16.1 %), Moderate RHD (41.7 %), and High RHD (42.2 %). Primiparas (OR = 2.867 / 1.773; P = 0.012 / 0.033), emergency CS (OR = 3.134 / 2.470; P = 0.006 / 0.002), lower levels of PPSS (OR = 0.909 / 0.942; P = 0.009 / 0.013) and OB-ODTS (OR = 0.948 / 0.975; P < 0.001) were associated with Moderate and Low RHD. Lower PSQ predicted a higher probability of Low RHD (OR = 0.955; P = 0.038). CONCLUSIONS: The perception of RHD by women in the study was inaccurate, with more than half not being classified as High RHD. Healthcare professionals can anticipate interventions for maternal well-being based on the characteristics of the different RHD classes.

Contracting pore channels of a magnesium-based metal-organic framework by decorating methyl groups for effective Xe/Kr separation.

A new magnesium-based metal-organic framework with unprecedented short-chain secondary building units and ultra-micropore channels approaching the kinetic diameters of Xe is fabricated by decorating methyl groups on ligands. Due to the contracted pores, this MOF exhibits very high selectivity values for Xe/Kr, which ranks it among the top porous absorbents.

Association of maternal phthalates exposure and metabolic gene polymorphisms with congenital heart diseases: a multicenter case-control study.

BACKGROUND: The majority of congenital heart diseases (CHDs) are thought to result from the interactions of genetics and the environment factors. This study aimed to assess the association of maternal non-occupational phthalates exposure, metabolic gene polymorphisms and their interactions with risk of CHDs in offspring. METHODS: A multicenter case-control study of 245 mothers with CHDs infants and 268 control mothers of health infant was conducted from six hospitals. Maternal urinary concentrations of eight phthalate metabolites were measured by ultra-high performance liquid chromatography coupled with tandem mass spectrometry (UHPLC-MS/MS). Twenty single nucleotide polymorphisms (SNPs) in cytochrome P450 family 2 subfamily C member 9 (CYP2C9) and 19 (CYP2C19), uridine diphosphate (UDP) glucuronosyl transferase family 1 member A7 (UGT1A7), family 2 member B7 (UGT2B7) and B15(UGT2B15) genes were genotyped. The multivariate logistic regressions were used to estimate the association between maternal phthalates exposure or gene polymorphisms and risk of CHDs. Generalized multifactor dimensionality reduction (GMDR) was used to analyze the gene-gene and gene-phthalates exposure interactions. RESULTS: There was no significant difference in phthalate metabolites concentrations between the cases and controls. No significant positive associations were observed between maternal exposure to phthalates and CHDs. The SNPs of UGT1A7 gene at rs4124874 (under three models, log-additive: aOR = 1.74, 95% CI:1.28-2.37; dominant: aOR = 1.86, 95% CI:1.25-2.78; recessive: aOR = 2.50, 95% CI: 1.26-4.94) and rs887829 (under the recessive model: aOR = 13.66, 95% CI: 1.54-121) were significantly associated with an increased risk of CHDs. Furthermore, the associations between rs4124874 (under log-additive and dominant models) of UGT1A7 were statistically significant after the false discovery rate correction. No significant gene-gene or gene-phthalate metabolites interactions were observed. CONCLUSIONS: The polymorphisms of maternal UGT1A7 gene at rs4124874 and rs887829 were significantly associated with an increased risk of CHDs. More large-scale studies or prospective study designs are needed to confirm or refute our findings in the future.

Predicting prognosis and immune status in sarcomas by identifying necroptosis-related lncRNAs.

BACKGROUND: Sarcomas are a type of highly heterogeneous malignant tumors originating from mesenchymal tissues. Necroptosis is intricately connected to the oncogenesis and progression of tumors. The main goal of this research is to assess the prognostic value of necroptosis-related lncRNAs (NRlncRNAs) in sarcomas and to develop a risk model based on NRlncRNAs to evaluate prognostic and immune status of the sarcomas. METHODS: We screened NRlncRNAs using the gene co-expression network, developed a prognostic risk model of sarcomas, and then verified the model. Following that, various bioinformatics analysis algorithms were employed to analyze the distinct characteristics of patients of the risk model. Furthermore, the function and regulatory mechanism of NRlncRNA SNHG6 in sarcomas were investigated through osteosarcoma cell experiments, such as qRT-PCR, Western blot, CCK-8, clone formation, and transwell assay. RESULTS: We successfully developed a NRlncRNAs-related prognostic risk model and screened 5 prognosis-related NRlncRNAs, with SNGH6 being the most significant for prognosis of patients. According to results, the significant differences exist in prognosis, clinical characteristics, and tumor immune status among patients of the risk model. The experiments of osteosarcoma cells demonstrated that NRlncRNA SNHG6 knockdown significantly attenuated the cells' proliferation, migration, and invasion. qRT-PCR and WB results showed that SNHG6 regulated AXL and AKT signaling. CONCLUSIONS: We have developed an innovative investigation on NRlncRNAs, which can serve as a reference for diagnosis, therapy, and prognosis of sarcomas. Additionally, we demonstrated that NRlncRNA SNHG6 regulated AXL and AKT signaling in osteosarcoma cells and the proliferation, migration, and invasion of tumor cells.

Single-cell Technologies Provide Novel Insights into Liver Physiology and Pathology.

The liver is the largest glandular organ in the body and has a unique distribution of cells and biomolecules. However, the treatment outcome of end-stage liver disease is extremely poor. Single-cell sequencing is a new advanced and powerful technique for identifying rare cell populations and biomolecules by analyzing the characteristics of gene expression between individual cells. These cells and biomolecules might be used as potential targets for immunotherapy of liver diseases and contribute to the development of precise individualized treatment. Compared to whole-tissue RNA sequencing, single-cell RNA sequencing (scRNA-seq) or other single-cell histological techniques have solved the problem of cell population heterogeneity and characterize molecular changes associated with liver diseases with higher accuracy and resolution. In this review, we comprehensively summarized single-cell approaches including transcriptomic, spatial transcriptomic, immunomic, proteomic, epigenomic, and multiomic technologies, and described their application in liver physiology and pathology. We also discussed advanced techniques and recent studies in the field of single-cell; our review might provide new insights into the pathophysiological mechanisms of the liver to achieve precise and individualized treatment of liver diseases.