Defects in mRNA splicing and implications for infertility: a comprehensive review and in silico analysis.

Background: mRNA splicing is a fundamental process in the reproductive system, playing a pivotal role in reproductive development and endocrine function, and ensuring the proper execution of meiosis, mitosis, and gamete function. Trans-acting factors and cis-acting elements are key players in mRNA splicing whose dysfunction can potentially lead to male and female infertility. Although hundreds of trans-acting factors have been implicated in mRNA splicing, the mechanisms by which these factors influence reproductive processes are fully understood for only a subset.

The first multiple center prospective study of rhFSH CTP in patients undergoing assisted reproductive technology in China.

We assessed the safety and efficacy of rhFSH-CTP, a novel long-acting FSH agent, in controlled ovarian hyperstimulation for patients undergoing ART. A multi-center, open-label, randomized, positive-control, non-inferiority clinical trial was conducted. The study consisted of a phase III randomized design, with a 1:1 ratio favoring the rhFSH-CTP group over the control group.

Aberrant acetylation caused by a CDYL splicing mutation contributes to thin mid-piece related asthenoteratozoospermia and male infertility.

Objectives: Acetylated tubulin is a hallmark of flagellar stability in spermatozoa, and studies have demonstrated the ability of CDYL to function as a tubulin acetyltransferase in spermatozoa. Of note, germline conditional knockout of Cdyl can lead to asthenoteratozoospermia and infertility in male mice. However, the role of CDYL gene in human fertility remains uncharacterized.

Observed Effects on Very Early Pregnancy Linked to Ambient PM Exposure in China among Women Undergoing Fertilization-Embryo Transfer.

The adverse effect of ambient PM exposure on very early pregnancy (VEP) remains controversial among epidemiological studies but is supported by toxicological evidence. We adopted a multicenter retrospective cohort of 141,040 cycles to evaluate the effect of PM exposure on the VEP using the fertilization and embryo transfer platform and high-resolution PM data in China. We first investigated the association between PM exposure 1 week before and 1 week after the embryo transfer date and VEP.

Colon mucosal proteomics of ankylosing spondylitis versus gut inflammation.

Objective: Ankylosing spondylitis (AS) patients often present with microscopic signs of gut inflammation. We used proteomic techniques to identify the differentially expressed proteins (DEPs) in the colon tissues of patients with AS and patients with gut inflammation, and then used investigated the influence of NMRAL1 protein on inflammatory cytokines to explore its potential role in the pathogenesis of AS and gut inflammation.

Methods: Colonic mucosal tissues were collected from four different groups: healthy individuals (group A), patients with gut inflammation only (group B), patients with AS only (group C), and patients with AS combined with gut inflammation (group D).

Antibiotics combined with vaginal probiotics in the embryo transfer cycle of infertile patients with chronic endometritis.

Introduction: Chronic endometritis (CE) is a prolonged, mild inflammation of the endometrial lining. This study investigated the impact of the impact of antibiotic treatment combined with vaginal on pregnancy outcomes in infertile patients with CE during frozen embryo transfer (FET) cycles.

Methods: A retrospective analysis was performed on the clinical data of 7,385 patients who underwent FET.

Approaches to Increase Early Detection and Positive Biopsy Rate of Nasal Natural Killer/T-Cell Lymphoma.

Objectives: To develop methods for early detection of natural killer/T-cell lymphoma, nasal type (nasal NKTL) and to evaluate the use of apparent diffusion coefficient (ADC) measurements from diffusion-weighted imaging (DWI) for selecting biopsy sites to enhance the positive biopsy rate.

Methods: The clinical data of 32 cases of nasal NKTL were retrospectively collected and analyzed. Cases were graded from 1 to 5 based on endoscopic and imaging findings.

Research trends in exercise therapy for the treatment of pain in postmenopausal osteoporosis over the past decade: A bibliometric analysis.

Background: Postmenopausal osteoporosis (PMOP) is the most common form of primary osteoporosis among women, and the associated pain often drives patients to seek clinical intervention. Numerous studies have highlighted the unique clinical benefits of exercise therapy (ET) in alleviating PMOP-related pain. However, bibliometric analyses examining collaboration, development trends, and research frontiers in the field of ET for PMOP pain remain scarce.

Association of FOXL2 and ERCC6 variants with premature ovarian insufficiency and their potential use in clinical IVF guidance.

Premature ovarian insufficiency (POI) is the main cause of infertility in women. Some cases of POI are thought to be caused by genetic defects and the clinical outcomes of these patients are unknown. Here, we performed whole-exome sequencing of the peripheral blood of a cohort of 55 subjects with POI and identified one heterozygous missense variant in FOXL2 (c.

Association of novel DNAH11 variants with asthenoteratozoospermia lead to male infertility.

Background: Bi-allelic variants in DNAH11 have been identified as causative factors in Primary Ciliary Dyskinesia, leading to abnormal respiratory cilia. Nonetheless, the specific impact of these variants on human sperm flagellar and their involvement in male infertility remain largely unknown.

Methods: A collaborative effort involving two Chinese reproductive centers conducted a study with 975 unrelated infertile men.

CALR3 defects disrupt sperm-zona pellucida binding in humans: new insights into male factor fertilization failure and relevant clinical therapeutic approaches.

Study Question: Do biallelic deleterious variants of Calreticulin 3 (CALR3) cause fertilization failure (FF), resulting in male infertility in humans?

Summary Answer: Biallelic mutations in CALR3 were identified in two infertile men from unrelated families and were shown to cause FF associated with failed sperm-zona pellucida (ZP) binding.

What Is Known Already: In male mice, the Calr3-knockout has been reported to cause male infertility and FF. However, the mechanism behind this remains unclear in humans.

The microbiota continuum along the upper reproductive tract of male rat and its relation to semen parameters.

Given the physiological function and anatomical location of the reproductive tract, studying the upper reproductive tract microbiota may be essential for studying male infertility and other male diseases. This study aimed to characterize the microbiota of the upper reproductive tract male rats and investigate whether specific microbial compositions are associated with sperm parameters. 16S rRNA gene sequencing was used to characterize the microbial composition in the testis, epididymis, seminal vesicles, vas deferens and prostate tissues of the rats.

Accuracy of two-dimensional transverse wave elastography of salivary glands in diagnosis of Sjögren's disease: a systematic review and meta-analysis.

Objectives: Two-dimensional shear wave elastography (2D-SWE) is a non-invasive technique for the evaluation of Sjögren's disease (SjD). This study investigated the diagnostic accuracy of 2D-SWE in assessing major salivary gland involvement in SjD.

Design: A systematic review and meta-analysis.

Distinct dynamics of parental 5-hydroxymethylcytosine during human preimplantation development regulate early lineage gene expression.

The conversion of DNA 5-methylcytosine (5mC) to 5-hydroxymethylcytosine (5hmC) by TET enzymes represents a significant epigenetic modification, yet its role in early human embryos remains largely unknown. Here we showed that the early human embryo inherited a significant amount of 5hmCs from an oocyte, which unexpectedly underwent de novo hydroxymethylation during its growth. Furthermore, the generation of 5hmC in the paternal genome after fertilization roughly followed the maternal pattern, which was linked to DNA methylation dynamics and regions of sustained methylation.

Further evidence from supports favorable fertility outcomes of infertile males with dynein axonemal heavy chain gene family variants.

Male infertility is a major concern affecting reproductive health. Biallelic deleterious variants of most DNAH gene family members have been linked to male infertility, with intracytoplasmic sperm injection (ICSI) being an efficacious way to achieve offspring. However, the association between and male infertility is still limited.

Relationship between Sjogren's syndrome and gastroesophageal reflux: A bidirectional Mendelian randomization study.

The clinical incidence of sjogren's syndrome combined with gastroesophageal reflux disease is high. Existing observational studies have shown inconsistent results in the association between gastroesophageal reflux disease (GERD) and Sjogren's syndrome (SS).We observed that the symptoms of SS patients also improved after receiving GERD-related treatment.

Deficiency of MFSD6L, an acrosome membrane protein, causes oligoasthenoteratozoospermia in humans and mice.

Oligoasthenoteratozoospermia is an important factor affecting male fertility and has been found to be associated with genetic factors. However, there are still a proportion of oligoasthenoteratozoospermia cases that cannot be explained by known pathogenic genetic variants. Here, we perform genetic analyses and identify bi-allelic loss-of-function variants of MFSD6L from an oligoasthenoteratozoospermia-affected family.

Association of lifestyle and occupational exposure factors with human semen quality: a cross-sectional study of 1060 participants.

The incidence of male infertility (MI) is rising annually. However, the lifestyle and occupational exposure factors contributing to MI remain incompletely understood. This study explored the effects of self-reported lifestyle and occupational exposure factors on semen quality.

Fertility preservation in male adolescents with cancer (2011-2020): A retrospective study in China.

Background: According to the studies, more than 80% of pediatric patients with cancer can achieve a survival rate greater than 5 years; however, long-term chemotherapy and/or radiation therapy may seriously affect their reproductive ability. Fertility preservation in adolescents with cancer in China was initiated late, and related research is lacking. Analyze data to understand the current situation and implement measures to improve current practices.

Homozygous deleterious variants in the C-terminal of TDRD5 impair spermiogenesis, causing severe oligoasthenoteratozoospermia in humans.

Background: PiRNA pathway factors, including evolutionarily conserved Tudor domain-containing proteins, play crucial roles in suppressing transposons and regulating post-meiotic gene expression. TDRD5 is essential for retrotransposon silencing and pachytene piRNA biogenesis; however, a causal link between TDRD5 variants and human infertility has not yet been established.

Objective: To identify the likely pathogenic variants of TDRD5 in infertile men, characterised by azoospermia or severe oligozoospermia.

Adenylate kinase phosphate energy shuttle underlies energetic communication in flagellar axonemes.

The complexities of energy transfer mechanisms in the flagella of mammalian sperm flagella have been intensively investigated and demonstrate significant diversity across species. Enzymatic shuttles, particularly adenylate kinase (AK) and creatine kinase (CK), are pivotal in the efficient transfer of intracellular ATP, showing distinct tissue- and species-specificity. Here, the expression profiles of AK and CK were investigated in mice and found to fall into four subgroups, of which Subgroup III AKs were observed to be unique to the male reproductive system and conserved across chordates.

Characterization of the gut microbiota in polycystic ovary syndrome with dyslipidemia.

Background: Polycystic ovary syndrome (PCOS) is an endocrinopathy in childbearing-age females which can cause many complications, such as diabetes, obesity, and dyslipidemia. The metabolic disorders in patients with PCOS were linked to gut microbial dysbiosis. However, the correlation between the gut microbial community and dyslipidemia in PCOS remains unillustrated.

Fertility preservation in males with cancer of trends, region development, and efficacy in mainland China from 16 regions Chinese sperm banks.

Purpose: Male cancer survivors experience confusion about fertility following cancer treatment. The aims of this study were to evaluate survivors' semen quality in different tumor type groups in China and to analyze the current situation and challenges of male cancer patients with sperm cryopreservation.

Methods: This was a multicenter retrospective study of male patients with cancer who underwent sperm cryopreservation in 16 regions of the national sperm banks over an 11-year period from 2010 to 2020.