Gut microbiota profiling reflects the renal dysfunction and psychological distress in patients with diabetic kidney disease.

Background: The gut microbiota plays a pivotal role in the development of diabetes and kidney disease. However, it is not clear how the intestinal microecological imbalance is involved in the context of diabetic kidney disease (DKD), the leading cause of renal failure.

Objectives: To elucidate the gut microbial signatures associated with DKD progression towards end-stage renal disease (ESRD) and explore whether they could reflect renal dysfunction and psychological distress.

[Clinical characteristics and genetic analysis of a patient with Acephalic spermatozoa syndrome due to variant of PMFBP1 gene].

Objective: To analyze the clinical characteristics and genetic basis of a male patient with primary infertility caused by Acephalic spermatozoa syndrome.

Methods: A patient who had presented at the Henan Provincial People's Hospital on October 1, 2022 was selected as the study subject. Clinical data and results of laboratory exams and sperm electron microscopy were collected.

A novel mutation in PCD-associated gene DNAAF3 causes male infertility due to asthenozoospermia.

Primary ciliary dyskinesia (PCD) is a rare autosomal-recessive disease manifested with recurrent infections of respiratory tract and infertility. DNAAF3 is identified as a novel gene associated with PCD and different mutations in DNAAF3 results in different clinical features of PCD patients, such as situs inversus, sinusitis and bronchiectasis. However, the sperm phenotypic characteristics of PCD males are generally poorly investigated.

Effects of assisted reproductive technology on gene expression in heart and spleen tissues of adult offspring mouse.

Objectives: Assisted reproductive technology (ART) is an important part of reproductive medicine, whose possible effects on offspring's health have drawn widespread attention in recent years. However, relevant studies are limited to postnatal short-term follow-up and lack of diverse sample sources analysis other than blood.

Methods: In this study, a mouse model was used to explore the effects of ART on fetal development and gene expression in the organs of offspring in the adulthood using next-generation sequencing.

A comparison of algorithms for identifying copy number variants in family-based whole-exome sequencing data and its implications in inheritance pattern analysis.

There remain challenges in accurately identifying constitutional or germline copy number variants (gCNVs) based on whole-exome sequencing data that have implications for genetic diagnosis for 'rare undiagnosed disease' in the clinical setting. Although multiple algorithms have been proposed, a systematic comparison of these algorithms for calling gCNVs and analyzing inherited pattern have yet to be fully conducted. Therefore, we empirically compared seven exome-based algorithms, including XHMM, CLAMMS, CODEX2, ExomeDepth, DECoN, CN.

Advantages of vitrification preservation in assisted reproduction and potential influences on imprinted genes.

Cryopreservation has important application in assisted reproductive technology (ART). The vitrification technique has been widely used in the cryopreservation of oocytes and embryos, as a large number of clinical results and experimental studies have shown that vitrification can achieve a higher cell survival rate and preimplantation development rate and better pregnancy outcomes. Ovarian tissue vitrification is an alternative method to slow freezing that causes comparatively less damage to the original follicular DNA.

Effects of oocyte vitrification on gene expression in the liver and kidney tissues of adult offspring.

Oocyte vitrification is an important assisted reproductive technology (ART) that preserves the fertility of unmarried patients with malignant tumors, and promotes the development of the oocyte donation program. In recent years, the effects of ART, including the vitrification of oocytes and embryos on the health of offspring, have attracted much attention; however, it is difficult to conduct long-term follow-up and biochemical evaluation in humans. In this study, we detected the effect of oocyte vitrification on gene expression in the organs of adult mice offspring by RNA sequencing for the first time.

Identification of TUBB8 Variants in 5 Primary Infertile Women with Multiple Phenotypes in Oocytes and Early Embryos.

Tubulin beta 8 class VIII (TUBB8) is a β-tubulin isotype that is specifically expressed in human oocytes and early embryos. It has been identified as a disease-causing gene in primary female infertility by affecting oocyte maturation arrest. This study investigated the genetic cause of female infertility in five patients from four families.

Changes in the composition of gut and vaginal microbiota in patients with postmenopausal osteoporosis.

Background: Postmenopausal osteoporosis (PMO) is influenced by estrogen metabolism and immune response, which are modulated by several factors including the microbiome and inflammation. Therefore, there is increasing interest in understanding the role of microbiota in PMO.

Objectives: To investigate variations in gut microbiota (GM) and vaginal microbiota (VM) in postmenopausal women with osteoporosis.

Deep phenotyping and whole-exome sequencing improved the diagnostic yield for nuclear pedigrees with neurodevelopmental disorders.

Background: Neurodevelopmental disorders, a group of early-onset neurological disorders with significant clinical and genetic heterogeneity, remain a diagnostic challenge for clinical genetic evaluation. Therefore, we assessed the diagnostic yield by combining standard phenotypes and whole-exome sequencing in families with these disorders that were "not yet diagnosed" by the traditional testing methods.

Methods: Using a standardized vocabulary of phenotypic abnormalities from human phenotype ontology (HPO), we performed deep phenotyping for 45 "not yet diagnosed" pedigrees to characterize multiple clinical features extracted from Chinese electronic medical records (EMRs).

Novel exon mutation in SYCE1 gene is associated with non-obstructive azoospermia.

Non-obstructive azoospermia (NOA) is a common cause of male infertility, and genetic problems, such as chromosomal abnormalities and gene mutations, are important causes of NOA. Our centre received a case of NOA, in which no mature sperm was found during microdissection testicular sperm extraction. A postoperative pathological examination revealed that testicular spermatogenesis was blocked.

Early dynamic changes of quasispecies in the reverse transcriptase region of hepatitis B virus in telbivudine treatment.

Background: Telbivudine (LdT) - a synthetic thymidine β-L-nucleoside analogue (NA) - is an effective inhibitor for hepatitis B virus (HBV) replication. The quasispecies spectra in the reverse transcriptase (RT) region of the HBV genome and their dynamic changes associated with LdT treatment remains largely unknown.

Methods: We prospectively recruited a total of 21 treatment-naive patients with chronic HBV infection and collected sequential serum samples at five time points (baseline, weeks 1, 3, 12, and 24 after LdT treatment).

[Analysis of DNAH1 gene variant in two infertile males with multiple morphological abnormalities of sperm flagella].

Objective: To explore the clinical feature and gene variant for two cases of primary male infertility caused by severe asthenospermia and to analyze the etiology of the disease.

Methods: Genomic DNA of peripheral blood samples of patients and their parents was extracted and gene variant analysis of the patients was conducted by using whole exome sequencing. Suspected pathogenic variant was verified by Sanger sequencing and pathogenic analysis.

DNA and RNA Sequencing Recapitulated Aberrant Tumor Metabolism in Liver Cancer Cell Lines.

Aim: Metabolic reprogramming has recently attracted extensive attention for understanding cancer development. We aimed to demonstrate a genomic and transcriptomic landscape of metabolic reprogramming underlying liver cancer cell lines.

Methods: We investigated metabolic aberrant at both the transcriptome and genome levels using transcriptome and whole-exome sequencing data from 12 human liver cancer cell lines (hLCCLs) and one normal liver cell line.

A Novel Noncanonical Splicing Mutation of ANOS1 Gene in Siblings with Kallmann Syndrome Identified by Whole-Exome Sequencing.

Kallmann syndrome (KS) is a rare genetic disorder that is characterized by idiopathic hypogonadotropic hypogonadism associated with anosmia. Genetic variants in ANOS1 gene are the most common mutations associated with X-linked recessive form of KS. Canonical ± 1 or 2 splice site variants in ANOS1 have been described to be responsible for KS.

Hedgehog signalling controls sinoatrial node development and atrioventricular cushion formation.

Smoothened is a key receptor of the hedgehog pathway, but the roles of Smoothened in cardiac development remain incompletely understood. In this study, we found that the conditional knockout of from the mesoderm impaired the development of the venous pole of the heart and resulted in hypoplasia of the atrium/inflow tract (IFT) and a low heart rate. The blockage of led to reduced expression of genes critical for sinoatrial node (SAN) development in the IFT.

Predictive value of anti-Müllerian hormone on pregnancy outcomes in in-vitro fertilization/intracytoplasmic single sperm injection patients at different ages.

Purpose: To investigate the predictive value of AMH level for pregnancy outcomes in different age groups of IVF/ICSI patients.

Methods: The study was a cohort study that included 11,484 patients that had their first IVF/ICSI procedure between 2016 and 2019. All patients who met the inclusion and exclusion criteria were divided into 6 groups according to 5-year age intervals, namely, Group 1: 20-24 years (n = 725); Group 2: 25-29 years (n = 4019); Group 3: 30-34 years (n = 3600); Group 4: 35-39 years (n = 1915); Group 5: 40-44 years (n = 1006); and Group 6: ≥ 45 years (n = 219).

Identification of small extracellular vesicle-linked miRNA specifically derived from intrafollicular cells in women with polycystic ovary syndrome.

Research Question: This study aimed to identify small extracellular vesicle (sEV)-linked microRNAs (miRNA) specifically derived from intrafollicular cells in women with polycystic ovary syndrome (PCOS) and to investigate their biological functions.

Design: A total of 120 women were recruited from September 2017 to October 2018. To investigate miRNA profiles in sEV derived from follicular fluid and serum, 30 women with PCOS and 30 without PCOS were included for a miRNA microarray containing probes interrogating 2549 human miRNA.

Does thyroid autoimmunity affect the reproductive outcome in women with thyroid autoimmunity undergoing assisted reproductive technology?

Problem: Our study aims to investigate whether the anti-thyroperoxidase antibody (TPO-Ab) and TSH level in euthyroid women have any association with reproductive outcomes after the ART cycle.

Methods Of Study: A total of 1107 patients who were enrolled in the study were divided into four groups based on serum TSH level and TPO-Ab status: group A, 0.3 ≤ TSH < 2.

[Early efficacy of percutaneous endoscopic cervical discectomy with multimodal neurophysiological monitoring].

To explore the clinical efficacy of percutaneous endoscopic cervical discectomy (PECD) assisted by neurophysiology monitoring (NM) in the treatment of cervical spondylotic radiculopathy (CSR). The clinical data of 55 patients with CSR treated in the Department of Spinal Surgery of Henan Provincial People's Hospital from April 2015 to May 2018 were analyzed retrospectively. Among them, 29 patients were treated with multi-mode NM-assisted PECD (NM group) and 26 patients with PECD alone (PECD group).

COVID-19 and immunomodulation treatment for women with reproductive failures.

COVID-19 pandemic is affecting various areas of health care, including human reproduction. Many women with reproductive failures, during the peri-implantation period and pregnancy, are on the immunotherapy using immune modulators and immunosuppressant due to underlying autoimmune diseases, cellular immune dysfunction, and rheumatic conditions. Many questions have been raised for women with immunotherapy during the COVID-19 pandemic, including infection susceptibility, how to manage women with an increased risk of and active COVID-19 infection.

Percutaneous Transforaminal Endoscopic Discectomy and Fenestration Discectomy to Treat Posterior Ring Apophyseal Fractures: A Retrospective Cohort Study.

Objective: To compare the efficacy and safety of percutaneous transforaminal endoscopic discectomy (PTED) and fenestration discectomy (FD) for posterior ring apophyseal fractures (PRAF).

Methods: This study was a retrospective cohort control study. A total of 96 patients with lumbar PRAF who underwent surgical treatment at the Henan Provincial People's Hospital of Henan University from September 2013 to December 2017 were retrospectively examined, of which 51 were treated by PTED and 45 by FD.

An ontology-based classification of Ebstein's anomaly and its implications in clinical adverse outcomes.

Background: Ebstein's anomaly (EA) is a rare congenital heart disease with significantly phenotypic heterogeneity, accompanied with multiple associated phenotypes. The classification of cases with EA based on a standardized vocabulary of phenotypic abnormalities from Human Phenotype Ontology (HPO) and its association with adverse clinical outcomes has yet to be investigated.

Methods: We developed a deep phenotyping algorithm for Chinese electronic medical records (EMRs) from the Fuwai Hospital to ascertain EA cases.

FLNA promotes chemoresistance of colorectal cancer through inducing epithelial-mesenchymal transition and smad2 signaling pathway.

Chemoresistance is a leading cause of tumor relapse and treatment failure in colorectal cancer (CRC) patients and is correlated with epithelial-mesenchymal transition (EMT). This study was aimed to explore the mechanism of EMT in chemoresistant CRC. Bioinformatic method was used to screen differentially expressed genes between 5-FU sensitive and resistant CRC cells.

Changes in the Morphology, Number, and Pathological Protein Levels of Plasma Exosomes May Help Diagnose Alzheimer's Disease.

Exosomes are nano-sized extracellular vesicles that are secreted by cells and usually found in body fluids. Since they freely cross the blood-brain barrier, neuronal exosomes respond directly to changes in the brain's environment. Recent studies have shown that exosomes contain both amyloid-β (Aβ) and tau proteins and have a controversial role in the Alzheimer's disease (AD) process.