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.

The Effect of Traditional Chinese Medicine Treatment on the Cumulative Live Birth Rate of Patients with Poor Ovarian Response to the Patient-Oriented Strategies Encompassing Individualized Oocyte Number Criteria.

Objective: This study analyzed the role of traditional Chinese medicine (TCM) treatment on the cumulative live birth rate (CLBR) in women with poor ovarian response to the patient-oriented strategies encompassing individualized oocyte number (POSEIDON) criteria.

Methods: This cohort study selected 3347 patients with low ovarian response and divided them into four subgroups according to the POSEIDON criteria: Group 1 (n=947), Group 2 (n=778), Group 3 (n=164), and Group 4 (n=1458). Logistic regression analysis was used to evaluate the role of TCM treatment on the CLBR of patients with poor ovarian response to POSEIDON criteria.

ClC-5 knockout mitigates angiotensin II-induced hypertension and endothelial dysfunction.

Aims: Impairment of nitric oxide (NO) production is a major cause of endothelial dysfunction and hypertension. ClC-5 Cl channel is abundantly expressed in the vascular endothelium. However, it remains unclear how it regulates endothelial function.

Subclinical/overt hypothyroidism may be associated with diminished ovarian reserve in infertile women independent of thyroid autoimmunity.

Objective: To investigate the association between thyroid dysfunction or thyroid autoimmunity (TAI) and diminished ovarian reserve (DOR).

Methods: A total of 2,867 women undergoing their first fertilization (IVF) cycle at Shenzhen Zhongshan Obstetrics & Gynecology Hospital between January 1, 2013 and June 30, 2021, were enrolled in this study. The participants had documented thyroid and ovarian reserve metrics.

Association of higher serum follicle-stimulating hormone levels with successful microdissection testicular sperm extraction outcomes in nonobstructive azoospermic men with reduced testicular volumes.

To investigate the impact of preoperative serum follicle-stimulating hormone (FSH) levels on the probability of testicular sperm retrieval, we conducted a study of nonobstructive azoospermic (NOA) men with different testicular volumes (TVs) who underwent microdissection testicular sperm extraction (micro-TESE). A total of 177 NOA patients undergoing micro-TESE for the first time from April 2019 to November 2022 in Shenzhen Zhongshan Obstetrics and Gynecology Hospital (formerly Shenzhen Zhongshan Urology Hospital, Shenzhen, China) were retrospectively reviewed. The subjects were divided into four groups based on average TV quartiles.

Maternal group B decreases infant length and alters the early-life microbiome: a prospective cohort study.

Background: Maternal colonization with Group B Streptococcus (GBS) disrupts the vaginal microbiota, potentially affecting infant microbiota assembly and growth. While the gut microbiota's importance in infant growth is recognized, the specific effects of maternal GBS on growth remain unclear. This study aimed to explore the effects of maternal vaginal GBS during pregnancy on early infant growth, microbiome, and metabolomics.

Inhibition of Selenoprotein I promotes ferroptosis and reverses resistance to platinum chemotherapy by impairing Akt phosphorylation in ovarian cancer.

Ovarian cancer (OV) ranks among the deadliest gynecological cancer, known for its high risk of relapse and metastasis, and a general resistance to conventional platinum-based chemotherapy. Selenoprotein I (SELENOI) is a crucial mediator implicated in human hereditary spastic paraplegia. However, its role in human tumors remains poorly elucidated.

The Association of ACA on Embryonic Development and Pregnancy Outcomes in Patients Undergoing IVF/ICSI Treatment.

Objective: To investigate whether anti-centromere antibody (ACA) is associated with embryonic development and clinical outcomes in patients undergoing IVF/ICSI treatment.

Materials And Methods: Women who underwent fresh or frozen embryo transfer cycles at a reproductive center between January 1, 2017 and January 1, 2023, were retrospectively studied. Women were divided into ACA- group and ACA+ group according to ACA levels.

Engineered Mesenchymal Stem Cell-Derived Extracellular Vesicles Scavenge Self-Antigens for Psoriasis Therapy via Modulating Metabolic and Immunological Disorders.

Psoriasis is a chronic inflammatory dermatosis driven by excessive activation of the immune system. Recent studies have demonstrated the therapeutic potential of mesenchymal stem cell-derived extracellular vesicles (MSC-EVs) to psoriasis because of their immunomodulation functions. Yet, the outcome of MSC-EVs alone is still unsatisfactory and the underlying mechanisms are also unclear.

π-HuB: the proteomic navigator of the human body.

The human body contains trillions of cells, classified into specific cell types, with diverse morphologies and functions. In addition, cells of the same type can assume different states within an individual's body during their lifetime. Understanding the complexities of the proteome in the context of a human organism and its many potential states is a necessary requirement to understanding human biology, but these complexities can neither be predicted from the genome, nor have they been systematically measurable with available technologies.

Decoding Functional and Developmental Trajectories of Tissue-Resident Uterine Dendritic Cells Through Integrative Omics.

Uterine dendritic cells (uDCs) are critical for endometrial function, yet their origin, molecular characteristics, and specific roles during the pre- and post-implantation periods in the human endometrium remain largely unknown. The complexity of the endometrial environment makes defining the contributions of uDCs subtypes challenging. We hypothesize that distinct uDC subsets carry out specialized functions, and that resident progenitor DCs generate these subtypes.

Understanding the heterogeneity of natural killer cells at the maternal-fetal interface: implications for pregnancy health and disease.

Natural killer (NK) cells are the most abundant leukocytes located at the maternal-fetal interface; they respond to pregnancy-related hormones and play a pivotal role in maintaining the homeostatic micro-environment during pregnancy. However, due to the high heterogeneity of NK cell subsets, their categorization has been controversial. Here, we review previous studies on uterine NK cell subsets, including the classic categorization based on surface markers, functional molecules, and developmental stages, as well as single-cell RNA sequencing-based clustering approaches.

Establishing a Mouse Model of Thin Endometrium.

Thin endometrium (TE) has been widely recognized as a critical cause of infertility. However, the pathogenesis of TE remains unclear, and satisfactory treatment options are still urgently needed. Several animal models of TE have been developed, but the mouse model involving abdominal surgery and injection of 95% ethanol presents a formidable challenge due to the high mortality rate and risk of intrauterine adhesions if not performed correctly.

Prediction of clinical pregnancy outcome after single fresh blastocyst transfer during in vitro fertilization: an ensemble learning perspective.

To establish a predictive model for clinical pregnancy outcomes following the transfer of a single fresh blastocyst in vitro fertilization (IVF). 615 patients (492 in training set and 123 in test set) who underwent the first single and fresh blastocyst transfer in the first IVF or intracytoplasmic sperm injection cycle performed in fertility centre of Shenzhen Zhongshan Obstetrics & Gynecology Hospital from July 2015 to June 2021 were enrolled in this study. Conventional method such as logistic regression (LR), individual machine learning methods including naive bayesian (NB), K-nearest neighbours (K-NN), support vector machine (SVM), decision tree (DT), and ensemble learning methods including random forest (RF), XGBoost, LightGBM, Voting were used to establish the clinical pregnancy outcome prediction model, and the efficacy among different models was compared.

The current status of primipara's childbirth experience and its correlation with their reproductive intention: a cross-sectional survey study.

Background: The childbirth experience of primipara profoundly impacts her future physical and mental health, reproductive intention, and choice of childbirth mode. This study aimed to explore the current situation of primipara's childbirth experience, to analyze the factors influencing negative childbirth experience, and to explore the relationship between childbirth experience and reproductive intention.

Methods: A cross-sectional survey of a convenience sample of 522 primipara 1-5 days postpartum was conducted at five hospitals in Guangdong Province (May to July 2024).

Association of birth weight with neuropsychological functioning in early adolescence: A retrospective cohort study.

Objective: This study aimed to compare the neuropsychological function in early adolescence between children born small for gestational age (SGA) or large for gestational age (LGA) and those born appropriate for gestational age (AGA).

Methods: This retrospective cohort study utilized data from the Adolescent Brain Cognitive Development study in 2016-18. Children born of singleton pregnancy with complete information of birth weight and delivery week were enrolled.

Novel injectable adhesive hydrogel loaded with exosomes for holistic repair of hemophilic articular cartilage defect.

Hemophilic articular cartilage damage presents a significant challenge for surgeons, characterized by recurrent intraarticular bleeding, a severe inflammatory microenvironment, and limited self-repair capability of cartilage tissue. Currently, there is a lack of tissue engineering-based integrated therapies that address both early hemostasis, anti-inflammation, and long-lasting chondrogenesis for hemophilic articular cartilage defects. Herein, we developed an adhesive hydrogel using oxidized chondroitin sulfate and gelatin, loaded with exosomes derived from bone marrow stem cells (BMSCs) (Hydrogel-Exos).

Self-Assembled Peptide Hydrogels Loaded with Umbilical Cord-Derived Mesenchymal Stem Cells Repairing Injured Endometrium and Restoring Fertility.

Endometrial injury is a major cause of infertility and recurrent miscarriage. However, no clinically available methods currently exist to effectively repair the damaged endometrium. Mesenchymal stem cells (MSCs) have emerged as a promising therapeutic approach for promoting tissue regeneration, yet a biocompatible scaffold capable of delivering MSCs and supporting their growth is needed.

Targeting Decidual CD16 Immune Cells with Exosome-Based Glucocorticoid Nanoparticles for Miscarriage.

Immune dysfunction in early pregnancy including overactivation of cytotoxic CD16 NK cells and proinflammatory M1 macrophages at the maternal-fetal interface interferes with trophoblast invasion, spiral artery remodeling, and decidualization, potentially leading to miscarriage. Immunosuppressants like glucocorticoids (GCs) are used to regulate the immune microenvironment in clinical treatment, but the lack of safe and efficient tissue-specific drug delivery systems, especially immune cell-specific vectors, limits their widespread clinical application. Here, a previously uncharacterized delivery system is reported, termed GC-Exo-CD16Ab, in which GCs are loaded into purified exosomes derived from human umbilical cord mesenchymal stem cells, and subsequently decorated with antibody CD16Ab.

Decreased AMPK/SIRT1/PDK4 induced by androgen excess inhibits human endometrial stromal cell decidualization in PCOS.

Polycystic ovary syndrome (PCOS) is a complex common endocrine disorder affecting women of reproductive age. Ovulatory dysfunction is recognized as a primary infertile factor, however, even when ovulation is medically induced and restored, PCOS patients continue to experience reduced cumulative pregnancy rates and a higher spontaneous miscarriage rate. Hyperandrogenism, a hallmark feature of PCOS, affects ovarian folliculogenesis, endometrial receptivity, and the establishment and maintenance of pregnancy.

Association between twin status with cognitive, behavioral development and brain structure in early adolescence: a retrospective cohort analysis based on the Adolescent Brain Cognitive Development Study.

Twin births are related with maternal and fetal adverse outcomes. Little was known about the comparability of the cognitive, behavioral development and brain structure between twins and singletons in early adolescence. This retrospective cohort study was based on data from the United States population-based, prospective, longitudinal observational Adolescent Brain Cognitive Development study.