Novel biallelic MCMDC2 variants were associated with meiotic arrest and nonobstructive azoospermia.

Nonobstructive azoospermia (NOA), one of the most severe types of male infertility, etiology often remains unclear in most cases. Therefore, this study aimed to detect four biallelic detrimental variants (0.5%) in the minichromosome maintenance domain containing 2 ( MCMDC2 ) genes in 768 NOA patients by whole-exome sequencing (WES).

Comparison of the clinical efficacy of lateral versus medial unicondylar replacement for unicompartmental osteoarthritis of the knee: a meta-analysis.

Objective: This meta-analysis evaluates the comparative efficacy of lateral unicompartmental arthroplasty (UKA) versus medial UKA in treating unicompartmental knee osteoarthritis (KOA).

Methods: We systematically searched Cochrane, PubMed, Embase, and Web of Science databases from January 2000 to September 2024. Literature screening, quality assessment, and data extraction were conducted based on predefined inclusion and exclusion criteria.

Anisotropy of Additively Manufactured Metallic Materials.

Additive manufacturing (AM) is a technology that builds parts layer by layer. Over the past decade, metal additive manufacturing (AM) technology has developed rapidly to form a complete industry chain. AM metal parts are employed in a multitude of industries, including biomedical, aerospace, automotive, marine, and offshore.

Changing trends in penile prosthesis implantation in China and an overview of postoperative outcomes from a single center.

Background: Surgical penile prosthesis implantation (PPI) procedures have only recently been introduced to mainland China, with the overall number of such procedures having been conducted to date remaining relatively low. Accordingly, relatively little remains known with respect to the annual trends in PPI. Accordingly, this study was developed with the goal of clarifying these trends across different hospitals in mainland China, while also providing a single-center overview of post-PPI patient outcomes.

Totally extraperitoneal laparoscopy-assisted microsurgical vasovasostomy for the treatment of obstructive azoospermia caused by pediatric bilateral inguinal herniorrhaphy.

Background: Pediatric inguinal hernia repair (IHR) is a common cause of obstructive azoospermia (OA). Yet, the surgical treatment for this kind of OA remains difficult with poor fertility outcome.

Objectives: To evaluate the safety and effectiveness of totally extraperitoneal laparoscopy-assisted microsurgical vasovasostomy (VV) in the treatment of OA caused by pediatric bilateral IHR.

Primate-Specific DAZ Regulates Translation of Cell Proliferation-Related mRNAs and is Essential for Maintenance of Spermatogonia.

Primate-specific DAZ (deleted in azoospermia) has evolved in the azoospermia factor c (AZFc) locus on the Y chromosome. Loss of DAZ is associated with azoospermia in patients with deletion of the AZFc region (AZFc_del). However, the molecular mechanisms of DAZ in spermatogenesis remain uncertain.

Predictive Value of Corrected F-FDG PET/CT Baseline Parameters for Primary DLBCL Prognosis: A Single-center Study.

 The purpose of this study was to evaluate the prognostic significance of corrected baseline metabolic parameters in fluorodeoxyglucose positron emission tomography imaging ( F-FDG PET/CT) for 3-year progression-free survival (PFS) in patients with primary diffuse large B cell lymphoma (DLBCL).  Retrospective clinical and pathological data were collected for 199 patients of DLBCL diagnosed between January 2018 and January 2021. All patients underwent F-FDG PET/CT scans without any form of treatment.

scRNA-seq reveals that origin recognition complex subunit 6 regulates mouse spermatogonial cell proliferation and apoptosis via activation of Wnt/β-catenin signaling.

The regulation of spermatogonial proliferation and apoptosis is of great significance for maintaining spermatogenesis. The single-cell RNA sequencing (scRNA-seq) analysis of the testis was performed to identify genes upregulated in spermatogonia. Using scRNA-seq analysis, we identified the spermatogonia upregulated gene origin recognition complex subunit 6 ( Orc6 ), which is involved in DNA replication and cell cycle regulation; its protein expression in the human and mouse testis was detected by western blot and immunofluorescence.

Identification of a missense variant of MND1 in meiotic arrest and non-obstructive azoospermia.

Meiotic arrest is a common pathologic phenotype of non-obstructive azoospermia (NOA), yet its genetic causes require further investigation. Meiotic nuclear divisions 1 (MND1) has been proved to be indispensable for meiotic recombination in many species. To date, only one variant of MND1 has been reported associated with primary ovarian insufficiency (POI), yet there has been no report of variants in MND1 associated with NOA.

A homozygous frameshift variant in SYCP2 caused meiotic arrest and non-obstructive azoospermia.

Genetic causation for the majority of non-obstructive azoospermia (NOA) remains unclear. Mutations in synaptonemal complex (SC)-associated genes could cause meiotic arrest and NOA. Previous studies showed that heterozygous truncating variants in SYCP2 encoding a protein essential for SC formation, are associated with non-obstructive azoospermia and severe oligozoospermia.

Bi-allelic MEI1 variants cause meiosis arrest and non-obstructive azoospermia.

Non-obstructive azoospermia (NOA) is characterized by the failure of sperm production due to testicular disorders and represents the most severe form of male infertility. Growing evidences have indicated that gene defects could be the potential cause of NOA via genome-wide sequencing approaches. Here, bi-allelic deleterious variants in meiosis inhibitor protein 1 (MEI1) were identified by whole-exome sequencing in four Chinese patients with NOA.

Deleterious variants in TAF7L cause human oligoasthenoteratozoospermia and its impairing histone to protamine exchange inducing reduced fertilization.

Introduction: Oligoasthenoteratozoospermia (OAT) is a major cause of infertility in males. Only a few pathogenic genes of OAT have been clearly identified till now. A large number of OAT-affected cases remain largely unknown.

Novel copy number variations within SYCE1 caused meiotic arrest and non-obstructive azoospermia.

Background: Non-obstructive azoospermia (NOA) is the most severe disease in male infertility, but the genetic causes for majority of NOA remain unknown.

Methods: Two Chinese NOA-affected patients were recruited to identify the genetic causal factor of infertility. Whole-exome sequencing (WES) was conducted in the two patients with NOA.

Bi-allelic SPATA22 variants cause premature ovarian insufficiency and nonobstructive azoospermia due to meiotic arrest.

The genetic causes of idiopathic premature ovarian insufficiency (POI) and nonobstructive azoospermia (NOA) remain unclear. We performed whole-exome sequencing (WES) in members of a consanguineous family with two POI and two NOA patients to screen for potential pathogenic variants for familial POI and NOA. And a homozygous variant in SPATA22 (c.

Novel Bi-Allelic Variants of Cause Sertoli Cell-Only Syndrome and Non-Obstructive Azoospermia.

Non-obstructive azoospermia (NOA) is the most severe disease in male infertility, but the genetic causes for the majority of NOA remain unknown. FANCM is a member of Fanconi Anemia (FA) core complex, whose defects are associated with cell hypersensitivity to DNA interstrand crosslink (ICL)-inducing agents. It was reported that variants in (MIM: 609644) might cause azoospermia or oligospermia.