Essential Regulation of Spermatogonial Stem Cell Fate Decisions and Male Fertility by APBB1 via Interaction with KAT5 and GDF15 in Humans and Mice.

Spermatogonial stem cells (SSCs) are essential for initiating and maintaining normal spermatogenesis, and notably, they have important applications in both reproduction and regenerative medicine. Nevertheless, the molecular mechanisms controlling the fate determinations of human SSCs remain elusive. In this study, we identified a selective expression of APBB1 in dormant human SSCs.

Correcting a patient-specific Rhodopsin mutation with adenine base editor in a mouse model.

Genome editing offers a great promise to treating human genetic diseases. To assess genome-editing-mediated therapeutic effects in vivo, an animal model is indispensable. The genomic disparities between mice and humans often impede the direct clinical application of genome-editing-mediated treatments using conventional mouse models.

Intercellular Communication Network of CellChat Uncovers Mechanisms of Kidney Fibrosis Based on Single-Cell RNA Sequencing.

Background: Chronic kidney disease (CKD) is a global health concern, with renal fibrosis being a major pathological feature. Empagliflozin (Empa), a sodium-glucose co-transporter-2 inhibitor, has shown promise in protecting the kidney. This study aimed to investigate the effects of Empa on renal fibrosis in a nondiabetic CKD model and to elucidate the underlying mechanisms.

Effects of high salt intake on glucose metabolism, liver function, and the microbiome in rats: influence of ACE inhibitors and angiotensin II receptor blockers.

High-salt diets (HSDs) are known to impact blood pressure and cardiovascular health, but their effects on glucose metabolism, liver function, and gut microbiota remain poorly understood. This study investigates how long-term HSD affects these physiological processes and evaluates the potential therapeutic effects of ACE inhibitors (ACEIs) and angiotensin II receptor blockers (ARBs). Male Sprague-Dawley rats were fed a normal salt diet (0.

Sperm tRNA-derived fragments expression is potentially linked to abstinence-related improvement of sperm quality.

Recent studies have shown that shorter periods of ejaculatory abstinence may enhance certain sperm parameters, but the molecular mechanisms underlying these improvements are still unclear. This study explored whether reduced abstinence periods could improve semen quality, particularly for use in assisted reproductive technologies (ART). We analyzed semen samples from men with normal sperm counts ( n = 101) and those with low sperm motility or concentration ( n = 53) after 3-7 days of abstinence and then after 1-3 h of abstinence, obtained from the Reproductive & Genetic Hospital of CITIC-Xiangya (Changsha, China).

Exploring the potential benefits of growth hormone co-treatment on embryo quality in IVF: a randomized controlled open-label trial.

Research Question: While growth hormone (GH) is hypothesized to potentially enhance embryo quality, results of current basic and clinical researches remain inconclusive. This study assesses the effect of GH supplementation on embryo quality and explores the relationship between baseline insulin-like growth factor-1 (IGF-1) levels and the efficacy of GH supplementation among Chinese patients undergoing in vitro fertilization (IVF).

Design: A randomized controlled Open-label trial was performed with 128 women experiencing poor embryonic development in IVF.

Association of whole blood heavy metal concentrations with kidney function.

Relatively elevated concentrations of arsenic, lead, and mercury are toxic to the kidneys. However, it is unknown whether kidney function is influenced by these metals in the general population without kidney diseases and without known exposure to these metals. We did a retrospective analysis of data collected from 58,864 outpatients in Germany from January 2014 to October 2022 undergoing measurements of arsenic, lead, and mercury.

Exploration of evaluation criteria based on the biological variation in the external quality assessment for basic semen analysis in China.

This study explores whether the current external quality assessment (EQA) level and acceptable bias for basic semen analysis in China are clinically useful. We collected data of semen EQA from Andrology laboratories in the Hunan Province (China) in 2022 and searched for data in the published literature from January 2000 to December 2023 in China. On the basis of these data, we analyzed the coefficients of variation and acceptable biases of different quality control materials for basic semen analysis through robust statistics.

Molecular insights into sperm head shaping and its role in human male fertility.

Background: Sperm head shaping, controlled by the acrosome-acroplaxome-manchette complex, represents a significant morphological change during spermiogenesis and involves numerous proteins expressed in a spatially and temporally specific manner. Defects in sperm head shaping frequently lead to teratozoospermia concomitant with oligozoospermia and asthenozoospermia, but the pathogenic mechanism underlying sperm head shaping, and its role in male infertility, remain poorly understood.

Objective And Rationale: This review aims to summarize the mechanism underlying sperm head shaping, reveal the relationship between gene defects associated with sperm head shaping and male infertility in humans and mice, and explore potential clinical improvements in ICSI treatment.

Uncovering immune cell heterogeneity in hepatocellular carcinoma by combining single-cell RNA sequencing with T-cell receptor sequencing.

Background: Understanding the status and function of tumor-infiltrating immune cells is essential for improving immunotherapeutic effects and predicting the clinical response in human patients with carcinoma. However, little is known about tumor-infiltrating immune cells, and the corresponding research results in hepatocellular carcinoma (HCC) are limited.

Aim: To investigate potential biomarker genes that are important for the development of HCC and to understand how immune cell subsets react throughout this process.

Proteomic and metabolomic analyses reveal the antibacterial mechanism of Cannabidiol against gram-positive bacteria.

Cannabidiol (CBD), the primary non-psychoactive cannabinoid isolated from cannabis, exhibits promising antibacterial effects. However, the antibacterial mechanism of CBD remains poorly understood. In this study, the mechanism was investigated using bacterial inhibition assays, label-free proteomics, and untargeted metabolomics, with Bacillus licheniformis (B.

Decade-long application of preimplantation genetic testing for DMD/BMD: analysis of five clinical strategies and embryo recombination patterns.

This study aimed to find the most effective PGT-M strategy for Duchenne muscular dystrophy/Becker muscular dystrophy (DMD/BMD), and to reduce misdiagnosis caused by embryo recombination in DMD. A retrospective study was performed by analyzing 158 PGT-M cycles for DMD/BMD in Reproductive and Genetic Hospital of CITIC-Xiangya between 2009 and 2023. Patients' backgrounds were collected.

Effect of Comprehensive Individualised Interventions on the Clinical Outcomes of Patients With Recurrent Implantation Failure: A Single-Centre Retrospective Cohort Study.

Objective: The objective of this study is to evaluate the impact of comprehensive individualised interventions on the clinical outcomes of patients with recurrent implantation failure (RIF), as few studies have evaluated their effectiveness.

Design: Retrospective cohort study.

Setting: Tertiary hospital, from June 2016 to December 2022.

Genetic Study and Prenatal Diagnosis of Inherited Glycosylphosphatidylinositol Disorders due to Novel Variants in Phosphatidylinositol Glycan Genes.

Inherited glycosylphosphatidylinositol deficiency disorders (IGDs) are a group of rare recessive genetic conditions characterised by developmental delays and an early onset epilepsy caused by disruptions in the glycosylphosphatidylinositol-anchored biosynthetic pathway. In this study, we identified eight variants in phosphatidyl inositol glycan (PIG) genes from four IGDs families through whole-exome sequencing (WES). The variants included one in PIGA, two in PIGW and five in PIGN, with five being novel variants.

The effect of surgical treatment of tubal pregnancy on concurrent intrauterine pregnancy after in vitro fertilization.

Whether surgical treatment of tubal pregnancy affects the outcomes of concomitant live normally sited (eutopic) pregnancies is unknown. The purpose of this study was to investigate the outcomes of live eutopic singleton pregnancies following surgical treatment for concomitant fallopian pregnancies. A total of 446 patients who conceived tubal heterotopic pregnancies (HPs) via in vitro fertilization-embryo transfer and underwent surgical treatment to remove ectopic pregnancies (EPs) were included.

Tumor organoids in cancer medicine: from model systems to natural compound screening.

Context: The advent of tissue engineering and biomedical techniques has significantly advanced the development of three-dimensional (3D) cell culture systems, particularly tumor organoids. These self-assembled 3D cell clusters closely replicate the histopathological, genetic, and phenotypic characteristics of primary tissues, making them invaluable tools in cancer research and drug screening.

Objective: This review addresses the challenges in developing models that accurately reflect tumor heterogeneity and explores the application of tumor organoids in cancer research, with a specific focus on the screening of natural products for antitumor therapies.

PLUNC downregulates the expression of PD-L1 by inhibiting the interaction of DDX17/β-catenin in nasopharyngeal carcinoma.

Background: Nasopharyngeal carcinoma (NPC) is characterized by high programmed death-ligand 1 (PD-L1) expression and abundant infiltration of non-malignant lymphocytes, which renders patients potentially suitable candidates for immune checkpoint blockade therapies. Palate, lung, and nasal epithelium clone (PLUNC) inhibit the growth of NPC cells and enhance cellular apoptosis and differentiation. Currently, the relationship between PLUNC (as a tumor-suppressor) and PD-L1 in NPC is unclear.

PATL2 mutations affect human oocyte maternal mRNA homeostasis and protein interactions in cell cycle regulation.

Background: Oocyte maturation defect (OMD) and early embryonic arrest result in female infertility. Previous studies have linked biallelic mutations in the PATL2 gene to OMD, yet the underlying mechanism remains largely unknown.

Results: This study uncovers three novel mutations (c.

A comprehensive atlas of multi-tissue metabolome and microbiome shifts: Exploring obesity and insulin resistance induced by perinatal bisphenol S exposure in high-fat diet-fed offspring.

Bisphenol S (BPS) is widely used as a substitute for Bisphenol A (BPA). While perinatal BPS exposure is suspected to increase susceptibility to high-caloric diet-induced adipogenesis, how BPS affects offspring remains largely unknown. This study explored effects of prenatal BPS exposure on adiposity and insulin resistance in high-fat diet (HFD)-fed C57BL/6 offspring, revealing significant changes in body weight, glucose tolerance, insulin sensitivity, and histopathology.

Homozygous deleterious variants in MYCBPAP induce asthenoteratozoospermia involving abnormal acrosome biogenesis, manchette structure and sperm tail assembly in humans and mice.

Asthenoteratozoospermia is a common cause of male infertility. To further define the genetic causes underlying asthenoteratozoospermia, we performed whole-exome sequencing in a cohort of Han Chinese men with asthenoteratozoospermia. Homozygous deleterious variants of MYCBPAP were first identified in two unrelated Chinese cases.

CFAP47 is Implicated in X-Linked Polycystic Kidney Disease.

Introduction: Autosomal dominant polycystic kidney disease (ADPKD) is a well-described condition in which approximately 80% of all cases have a genetic explanation; and among sporadic cases without a family history, the genetic bases remain unclear in approximately 30% of cases. This study aimed to identify genes associated with polycystic kidney disease (PKD) in patients with sporadic cystic kidney disease in which a clear genetic change was not identified in established genes.

Methods: A next-generation sequencing panel analyzed known genes related to kidney cysts in 118 sporadic cases, followed by whole-genome sequencing (WGS) on 47 unrelated individuals without identified candidate variants.

Pre-pregnancy LDL/HDL and total Cholesterol/HDL ratios are strong predictors of gestational diabetes mellitus in women undergoing assisted reproductive technologies.

Background & Objective: To analyze whether there is an association between pre-pregnancy lipid parameters and gestational diabetes mellitus (GDM) in women undergoing assisted reproductive technologies (ART), a group especially at risk for GDM, and if so, which parameter is associated the strongest.

Methods: Data was collected at the Reproductive and Genetic Hospital CITIC-Xiangya in Changsha, China from January 2017 to December 2018. The measured lipid parameters include LDL (low-density lipoprotein), HDL (high-density lipoprotein), TC (total cholesterol), and TG (triglycerides).