Identification of a cryptic unbalanced translocation Der(22)t(12;22)(q24.33;q13.33) in a large Chinese family with Phelan-McDermid syndrome by nanopore sequencing.

To explore the genetic cause of a four-generation severe intellectual disability in a Chinese family using nanopore sequencing and to provide genetic counseling and reproductive guidance for family members. Multiple genetic analyses of the proband and family members were performed, including chromosome karyotype analysis, whole exome sequencing, nanopore sequencing, PCR amplification, and Sanger sequencing. The results of G-binding karyotyping, CGG repeats for FMR1, GGC repeats for NOTCH2NCL, and trio-whole-exome sequencing were negative for the proband and his parents.

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.

Dynamic Mechanical Properties and Damage Morphology Analysis of Concrete with Different Aggregates Based on FDM-DEM Coupling.

To study the dynamic compressive mechanical properties of concrete with different aggregates (limonite and lead-zinc ore), a dynamic mechanical experiment was carried out by the Φ 100 mm SHPB equipment. Based on the coupling of the finite difference method (FDM) and the discrete element method (DEM), a three-dimensional numerical model was constructed. The effects of various strain rates and aggregate types on the dynamic mechanical properties of concrete, the dynamic increase factor (DIF), and the dynamic impact damage process were analyzed and discussed.

Transcriptome analysis reveals that defects in cell cycle regulation contribute to preimplantation embryo arrest.

Patients with preimplantation embryo arrest (PREMBA) often experience assisted reproductive failure primarily due to the lack of transferable embryos, and the molecular mechanisms underlying PREMBA remain unclear. In our study, the embryos from five women with recurrent preimplantation embryo arrest and three women with tubal factor infertility were used for single-embryo transcriptome sequencing. Meanwhile, the transcriptomes of normal human preimplantation embryos obtained from GSE36552 were utilized to perform a comparative analysis with the transcriptomes of PREMBA embryos.

Identification of a novel splicing variant of thyroid hormone receptor interaction protein 13 (TRIP13) in female infertility characterized by oocyte maturation arrest.

Purpose: As a cause of primary female infertility, oocyte maturation arrest (OMA) is characterized by failure to obtain mature oocytes due to abnormal meiosis. We aimed to identify pathogenic variants in two sisters with OMA phenotype from a non-consanguineous family.

Methods: Whole-exome sequencing and Sanger sequencing were conducted to identify and validate the disease-causing gene variant.

The adenosine A2A receptor in human sperm: its role in sperm motility and association with fertilization outcomes.

Background: The involvement of ATP and cAMP in sperm function has been extensively documented, but the understanding of the role of adenosine and adenosine receptors remains incomplete. This study aimed to examine the presence of adenosine A2A receptor (A2AR) and study the functional role of A2AR in human sperm.

Methods: The presence and localization of A2AR in human sperm were examined by western blotting and immunofluorescence assays.

Predicting personalized cumulative live birth rate after a complete in vitro fertilization cycle: an analysis of 32,306 treatment cycles in China.

Background: The cumulative live birth rate (CLBR) has been regarded as a key measure of in vitro fertilization (IVF) success after a complete treatment cycle. Women undergoing IVF face great psychological pressure and financial burden. A predictive model to estimate CLBR is needed in clinical practice for patient counselling and shaping expectations.

Association between systemic immune-inflammation index and post-stroke depression: a cross-sectional study of the national health and nutrition examination survey 2005-2020.

Background: Less research has linked the Systemic Immune Inflammatory Index (SII) with post-stroke depression (PSD). This study aims to look at any potential connections between SII and PSD.

Methods: The National Health and Nutrition Examination Survey (NHANES), conducted in a population that embodied complete SII and stroke data from 2005 to 2020, was used to perform the current cross-sectional survey.

Causal associations between infection and pregnancy and neonatal outcomes: a two-sample Mendelian randomization study.

Background: Observational studies have reported that () infection is associated with a series of pregnancy and neonatal outcomes. However, the results have been inconsistent, and the causal effect is unknown.

Methods: A two-sample Mendelian randomization (MR) study was performed using summary-level statistics for anti- IgG levels from the Avon Longitudinal Study of Parents and Children Cohort.

Anti-proliferation and apoptosis induced via the mTOR/PGC-1α signaling pathway in trophoblast cells of miscarriage.

Miscarriage is a common complication during early pregnancy and affects approximately 10%-15% of all pregnant women. Several studies have reported that the abnormal expression of mitochondrial oxidative stress-related genes might be involved in the occurrence and progression of miscarriage. The present study attempted to uncover the role of peroxisome proliferator-activated receptor gamma coactivator-1α (PGC-1α) in miscarriage chorionic villous tissue.

Association between proliferative-to-secretory endometrial compaction and pregnancy outcomes after embryo transfer: a systematic review and meta-analysis.

Study Question: Does the change in endometrial thickness (EMT) from the end of the follicular/estrogen phase to the day of embryo transfer (ET) determine subsequent pregnancy outcomes?

Summary Answer: Endometrial compaction from the late-proliferative to secretory phase is not associated with live birth rate (LBR) and other pregnancy outcomes.

What Is Known Already: Endometrial compaction has been suggested to be indicative of endometrial responsiveness to progesterone, and its association with ET outcome has been investigated but is controversial.

Study Design, Size, Duration: A systematic review with meta-analysis was carried out.

Pregnancy outcomes after frozen-thawed embryo transfer in women with COVID-19 history: A prospective cohort study.

The clinical effect of Coronavirus disease 2019 (COVID-19) on endometrial receptivity and embryo implantation remains unclear. Herein, we aim to investigate whether a COVID-19 history adversely affect female pregnancy outcomes after frozen-thawed embryo transfer (FET). This prospective cohort study enrolled 230 women who underwent FET cycles from December 2022 to April 2023 in an academic fertility center.

Reduced PATL2 Impairs the Proliferation of Ovarian Granulosa Cells by Decreasing ADM2 Expression in Patients with PCOS.

It is recognized that PCOS patients are often accompanied with aberrant follicular development, which is an important factor leading to infertility in patients. However, the relevant regulatory mechanisms of abnormal follicular development are not well understood. In the present study, by collecting human ovarian granulosa cells (GCs) from PCOS patients who underwent in vitro fertilization (IVF), we found that the proliferation ability of GCs in PCOS patients was significantly reduced.

Effect of prior female SARS-CoV-2 infection on IVF outcomes: a prospective cohort study.

Introduction: The clinical impact of SARS-CoV-2 infection on human reproduction remains controversial. This prospective cohort study aimed to assess the effect of prior female SARS-CoV-2 infection on subsequent fertilization (IVF) outcomes.

Materials And Methods: A total of 451 women who underwent fresh IVF treatment between December 1, 2022 and April 30, 2023 were included from an academic fertility center.

Impact of inactivated COVID-19 vaccination on female ovarian reserve: a propensity score-matched retrospective cohort study.

Purpose: To explore the impact of inactivated COVID-19 vaccination on ovarian reserve as assessed by serum anti-Müllerian hormone (AMH) concentration.

Methods: A total of 3160 women were included in this single-center retrospective cohort study between June 2021 and October 2022. Vaccination information were collected from official immunization records available in personal mobile apps.

Efficacy and Safety of the Chinese Herbal Compound TJAOA101 in Treating Diminished Ovarian Reserve: A Protocol for Multicenter, Prospective, and Pre-Post Study.

Objective: Diminished ovarian reserve (DOR) can lead to early menopause, poor fecundity, and an increased risk of disorders such as osteoporosis, cardiovascular disease, and cognitive impairment, seriously affecting the physical and mental health of women. There is still no safe and effective strategy or method to combat DOR. We have developed a novel Chinese herbal formula, Tongji anti-ovarian aging 101 (TJAOA101), to treat DOR.

[Application of single sperm sequencing for the preimplantation genetic testing of a Chinese family affected with Spinal muscular atrophy].

Objective: To assess the value of single sperm sequencing in preimplantation genetic testing for monogenic disease (PGT-M).

Methods: A Chinese couple with two children whom had died of Spinal muscular atrophy (SMA) and attended the Jiangxi Provincial Maternal and Child Health Care Hospital in June 2020 was selected as the subject. Eleven single sperm samples were isolated by mechanical immobilization and subjected to whole genome amplification.

Effect of female coronavirus disease 2019 vaccination on assisted reproductive outcomes: a systematic review and meta-analysis.

Importance: The effect of coronavirus disease 2019 (COVID-19) vaccination on fertility warrants clarification in women undergoing assisted reproductive treatment.

Objective: To study the association between female COVID-19 vaccination and outcomes of assisted reproductive treatment.

Data Sources: PubMed, Embase, the Web of Science, Cochrane Library, and medRxiv and bioRxiv were searched for eligible studies from December 1, 2019, to November 30, 2022, with no language restrictions.

Effect of inactivated COVID-19 vaccination on pregnancy outcomes following frozen-thawed embryo transfer: A retrospective cohort study.

Objective: To investigate the effect of inactivated coronavirus disease 2019 (COVID-19) vaccination on frozen-thawed embryo transfer (FET) outcomes.

Methods: This retrospective cohort study enrolled 1,210 patients undergoing FET cycles in a single university-affiliated hospital between July 1, 2021, and May 1, 2022. Of them, 387 women with two full doses of inactivated SARS-CoV-2 vaccines (CoronaVac or BBIBP-CorV) after oocyte retrieval were assigned to the vaccinated group, while 823 were unvaccinated as controls.

Autophagy markers are dysregulated in the endometrial tissues of patients with unexplained repeated implantation failure.

Endometrium decidualization is a complex biological process, which includes the interplay of transcription factors, cytokines, cell cycle regulators, and other signaling pathways. However, the underlying molecular mechanisms of this process are not fully elucidated to date. In this study, we aimed to investigate the possible association between autophagy and recurrent implantation failure (RIF).