Noninvasive prenatal diagnosis (NIPD) of non-syndromic hearing loss (NSHL) for singleton and twin pregnancies in the first trimester.

Background: Noninvasive prenatal diagnosis (NIPD) has been proven feasible for non-syndromic hearing loss (NSHL) in singleton pregnancies. However, previous research is limited to the second trimester and the application in twin pregnancies is blank. Here we provide a novel algorithmic approach to assess singleton and twin pregnancies in the first trimester.

CDK8 as a therapeutic target for overall survival prediction in cervical squamous cell carcinoma (CESC).

Cyclin-dependent kinase 8 (CDK8) is a paracrine transcriptional regulator involved in regulating cellular stress response, growth, and neurological functions, in conjunction with mediator complex subunits 12 (MED12), MED13, and cyclin C.Cyclin-dependent kinase 8 (CDK8) is a paracrine transcriptional regulator involved in regulating cellular stress response, growth and neurological functions，in conjunction with mediator complex subunit 12 (MED12), MED13 and cyclin C. Studying the relationship between CDK8 and cervical squamous cell carcinoma (CESC) has significant clinical implications in diagnosis, treatment, and prognosis.

Therapeutic strategies: Bioactive hydrogels oxidized sodium alginate/strontium/betamethasone for preventing intrauterine adhesion.

Intrauterine adhesion (IUA) is an endometrial damage repair disorder that leads to menstrual loss, amenorrhea, and infertility in women; therefore, addressing this dilemma is a critical challenge. In this study, a multifunctional hydrogel, comprising oxidized sodium alginate (OSA), strontium carbonate (SrCO), and betamethasone 21-phosphate sodium (BSP), was formulated to facilitate angiogenesis, reduce fibrosis, and support tissue repair in the treatment of IUA. The composite hydrogels showed significant bioactivity on human endometrial stromal cells (HESCs) and human umbilical vein endothelial cells (HUVECs), promoting the injured HESCs repair, reversing the degree of fibrosis to a certain extent, and enhancing the proliferation and migration of HUVECs.

Associations Between Prenatal Dioxin-like Polychlorinated Biphenyls Exposure and Glucocorticoid and Androgenic Hormones in Umbilical Cord Blood.

This study investigates the association between prenatal exposure to dioxin-like polychlorinated biphenyls (DL-PCBs) and glucocorticoid and androgenic hormone levels in cord blood. We analyzed cord blood samples from 500 mother-infant pairs from China (2022-2023), focusing on hormones including cortisol, cortisone, dehydroepiandrosterone (DHEA), and androstenedione. The main analysis revealed significant reductions in cortisol levels with increased exposure to PCB-77 (β = -3.

Age-specific reference ranges and variation of anti-mülerian hormone in healthy Chinese women of reproductive and perimenopausal age: a nationwide population-based prospective multicenter cross-sectional study.

Objective: To determine the variation of serum AMH levels in healthy Chinese women and establish AMH reference ranges accordingly.

Methods: This prospective cross-sectional multicenter study was designed to enroll healthy Chinese women of reproductive age (20-39 years) and perimenopausal age (40-49 years) from five reproductive centers in different regions of China. The study began in May 2022 and finished in February 2023.

Rare and common genetic variants underlying the risk of Hirschsprung's disease.

Hirschsprung's disease (HSCR) is a congenital enteric neuropathic disorder characterized by high heritability (>80%) and polygenic inheritance (>20 genes). The previous genome-wide association studies (GWAS) identified several common variants associated with HSCR and demonstrated increased predictive performance for HSCR risk in Europeans using a genetic risk score, there remains a notable gap in knowledge regarding Chinese populations. We conducted whole exome sequencing in a HSCR case cohort in Chinese.

Unraveling the genetic mysteries of spinal muscular atrophy in Chinese families.

Objective: Spinal muscular atrophy (SMA) is a motor neuron disorder encompassing 5q and non-5q forms, causing muscle weakness and atrophy due to spinal cord cell degeneration. Understanding its genetic basis is crucial for genetic counseling and personalized treatment options.

Methods: This study retrospectively analyzed families of patients suspected of SMA at our institution from February 2006 to March 2024.

N-acetyltransferase 10 impedes EZH2/H3K27me3/GABARAP axis mediated autophagy and facilitates lung cancer tumorigenesis through enhancing SGK2 mRNA acetylation.

N4-acetylcytidine (ac4C) is a critical RNA modification implicated in cancer progression. Currently, N-acetyltransferase 10 (NAT10) is recognized as the sole "writer" protein responsible for ac4C modification. However, the study of NAT10 and ac4C modification in lung cancer remains sparse.

Association Between Herpes Simplex Virus Type II and High-Risk Human Papillomavirus Infections: A Population Study of the National Health and Nutrition Examination Survey, 2009-2016.

Background: Human papillomavirus (HPV) is a leading cause of cervical cancer, with 14 subtypes classified as high-risk human papillomavirus (HR-HPV). Despite the availability of vaccines, certain regions still experience limited access. Herpes simplex virus type II (HSV-II), a common sexually transmitted infection, is hypothesized to increase the risk of HR-HPV infections.

Maternal nutrition and offspring lung health: sex-specific pathway modulation in fibrosis, metabolism, and immunity.

Background: Maternal nutrition profoundly influences offspring health, impacting both prenatal and early postnatal development. Previous studies have demonstrated that maternal dietary habits can affect key developmental pathways in the offsprings, including those related to lung function and disease susceptibility. However, the sex-specific impact of a maternal high-salt diet (HSD) on offspring lung injury remains poorly understood.

Learning environment as a predictor for medical students' empathy: a multicenter cross-sectional study from 12 medical schools in China.

Background: Empathy of medical students is crucial, yet it tends to decline as students enter later academic years. Empathy appeared to be affected by the learning environment (LE), which could be a potential contributor. We conducted a cross-sectional study to investigate the association between LE and empathy.

MiR-675 Inhibits Primary Ovarian Tumor Growth and Metastasis by Suppressing EMT and TGFβ Signaling.

MicroRNAs (miRNAs) can function as either tumor suppressors or oncogenes. This study explores the role of miR-675 in ovarian cancer (OC) using OC cell lines and an orthotopic mouse model. We demonstrate that miR-675 expression inhibits primary tumor growth and metastasis by targeting TGFβ1, suppressing epithelial to mesenchymal transition (EMT), and attenuating the TGFβ signaling pathway.

Melatonin Inhibits Endometriosis Growth via Specific Binding and Inhibition of EGFR Phosphorylation.

As a chronic gynecological disease, endometriosis is defined as the implantation of endometrial glands as well as stroma outside the uterine cavity. Proliferation is a major pathophysiology in endometriosis. Previous studies demonstrated a hormone named melatonin, which is mainly produced by the pineal gland, exerts a therapeutic impact on endometriosis.

No Difference in Prolapse Recurrence Rates Between Laparoscopic and Robotic-Assisted Sacrocolpopexy: A Long-Term Comparison.

Objective: To compare the long-term efficacy of conventional laparoscopic sacrocolpopexy with those of robot-assisted laparoscopic sacrocolpopexy in the treatment of pelvic organ prolapse.

Design: Retrospective cohort study.

Setting: Tertiary referral center in China.

Next-generation variant exon screening: Moving forward in routine genetic disease investigations.

Purpose: Patients with genetic diseases often seek testing to reach a firm diagnosis. Based on clinical phenotypes, exome sequencing for small-nucleotide variations or array-based methods for copy-number variations (CNVs) are commonly offered to identify the underlying causative genetic variants. In this study, we investigated whether data from a standard ES test could be used to additionally identify pathogenic CNVs and increase diagnostic yield.

[Analysis of the clinical outcomes of fetal 6p22.1-p21.32 duplications signaled by non-invasive prenatal screening].

Objective: To summarize the results of prenatal diagnosis and outcome of pregnancy of fetuses with a high risk for 6p22.1.1-p21.

Inhibition of discoidin domain receptor 1 as a new therapeutic strategy for osteosarcoma.

Osteosarcoma is the most common type of bone cancer. Some patients eventually develop recurrent or metastatic diseases and treatment options are extremely limited. Discoidin domain receptor 1 (DDR1) is a unique collagen-activated tyrosine kinase that participates in various human diseases, including cancer.

Circulating Interleukin-6 Mediates PM-Induced Ovarian Injury by Suppressing the PPARγ Pathway.

Exposure to airborne fine particulate matter (PM) is strongly associated with poor fertility and ovarian damage. However, the mechanism underlying this remains largely unclear. Here, we found that PM markedly impaired murine ovarian reserve, decreased hormone levels, and aggravated ovarian inflammation.

Acetaminophen overdose inhibits steroidogenic acute regulatory protein expression by reducing AKT-mediated SP1 expression in human granulosa-lutein cells.

Overdose of acetaminophen (APAP) has been shown to adversely affect the outcome of pregnancy. The steroidogenic acute regulatory protein (StAR) plays a pivotal role in steroidogenesis, but the impact of APAP on StAR expression in adult human ovarian granulosa cells remains elusive. Here, we demonstrate that APAP overdose leads to the downregulation of StAR expression in the human granulosa cell tumor cell line, KGN, and in the primary culture of human granulosa-lutein (hGL) cells.

AI-assisted diagnosis of vulvovaginal candidiasis using cascaded neural networks.

Unlabelled: Vulvovaginal candidiasis (VVC) is a prevalent fungal ailment affecting women globally. Timely and accurate diagnosis is crucial. Traditional methods, relying on clinical evaluation and manual microscopic examination, have limitations.

The potential role of gut microbiota in the occurrence and development of endometriosis.

Endometriosis (EMT) has a significant impact on women's physical and mental health. In this study, high-throughput sequencing technology was employed to detect differences in gut microbiota between EMT patients and healthy individuals (CTL). Additionally, Spearman correlation analysis was utilized to analyze the correlation between different bacterial genera and EMT biomarkers (CA125 and CA199).

From dysfunction to healing: advances in mitochondrial therapy for Osteoarthritis.

Osteoarthritis (OA) is a chronic degenerative joint condition characterised by cartilage deterioration and changes in bone morphology, resulting in pain and impaired joint mobility. Investigation into the pathophysiological mechanisms underlying OA has highlighted the significance of mitochondrial dysfunction in its progression. Mitochondria, which are cellular organelles, play a crucial role in regulating energy metabolism, generating reactive oxygen species, and facilitating essential biological processes including apoptosis.

[Clinical and genetic analysis of autosomal dominant polycystic liver disease].

To analyze and clarify the clinical and pathogenic gene variation and genetic etiology of polycystic liver disease. The proband clinical data and family history were collected. Whole-exome sequencing technology was used to detect the proband gene variations.

Identification of novel ABCB4 variants and genotype-phenotype correlation in progressive familial intrahepatic cholestasis type 3.

Progressive familial intrahepatic cholestasis type 3 (PFIC3) is a severe hepatic disorder characterized by cholestasis. Elucidating the genotype-phenotype correlations and expanding the mutational spectrum of the ABCB4 gene are crucial for enhancing diagnostic accuracy and therapeutic strategies.Clinical and genetic data from 2 original PFIC3 patients from our institution, along with 118 additional cases identified through a comprehensive literature review, were integrated for a comprehensive analysis.

Stem cell transplantation extends the reproductive life span of naturally aging cynomolgus monkeys.

The ovary is crucial for female reproduction and health, as it generates oocytes and secretes sex hormones. Transplantation of mesenchymal stem cells (MSCs) has been shown to alleviate pathological ovarian aging. However, it is unclear whether MSCs could benefit the naturally aging ovary.