A5007004135- Sperm and Testicular Function
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Reproductive Biology and Fertility
- DNA Repair Mechanisms
- Urological Disorders and Treatments
- Hernia repair and management
- Ureteral procedures and complications
- Urologic and reproductive health conditions
- Catalysis for Biomass Conversion
- Genomics and Chromatin Dynamics
- Male Reproductive Health Studies
- Genomic variations and chromosomal abnormalities
- Asymmetric Hydrogenation and Catalysis
- CRISPR and Genetic Engineering
- Catalysis and Hydrodesulfurization Studies
Nanjing Medical University
2022-2024
Shanghai Jiao Tong University
2023-2024
Shanghai First People's Hospital
2023-2024
Abstract The genetic causes of idiopathic premature ovarian insufficiency (POI) and nonobstructive azoospermia (NOA) remain unclear. We performed whole‐exome sequencing (WES) in members a consanguineous family with two POI NOA patients to screen for potential pathogenic variants familial NOA. And homozygous variant SPATA22 (c.400C>T:p.R134X) was identified. Histological analysis spermatocyte spreading assay demonstrated that the spermatogenesis arrested at zygotene‐like stage proband...
Abstract Background Non-obstructive azoospermia (NOA) is the most severe disease in male infertility, but genetic causes for majority of NOA remain unknown. Methods Two Chinese NOA-affected patients were recruited to identify causal factor infertility. Whole-exome sequencing (WES) was conducted two with NOA. Sanger and CNV array used ascertain WES results. Hematoxylin eosin (H&E) staining immunofluorescence (IF) carried out evaluate stage spermatogenesis arrested affected cases. Results...
Abstract 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 SYCP2 encoding a protein essential SC formation, are associated with severe oligozoospermia. Herein, we homozygous loss‐of‐function variant (c.2689_2690insT) an NOA‐affected patient. And this was inherited from parental carriers by natural...
Abstract Nonobstructive azoospermia (NOA), the most severe manifestation of male infertility, lacks a comprehensive understanding its genetic etiology. Here, bi‐allelic loss‐of‐function variant in REC114 (c.568C > T: p.Gln190*) were identified through whole exome sequencing (WES) Chinese NOA patient. Testicular histopathological analysis and meiotic chromosomal spread conducted to assess stage spermatogenesis arrested. Co‐immunoprecipitation (Co‐IP) Western blot (WB) used investigate...
The three-dimension digital image microscope system (3D-DIM) with a better ergonomic design and equipment characteristics can contribute to the achievement of good results during microsurgery. In this study, safety efficiency 3D-DIM assisted varicocelectomy was evaluated. From July 2019 November 2019, fifteen cases varicocele (20 sides in total) were included, seven underwent 3D-DIM-assisted modified microsurgical subinguinal varicocelectomy, eight under standard operating (SOM). mean...
Abstract Background Pediatric inguinal hernia repair (IHR) is a common cause of obstructive azoospermia (OA). Yet, the surgical treatment for this kind OA remains difficult with poor fertility outcome. Objectives To evaluate safety and effectiveness totally extraperitoneal laparoscopy‐assisted microsurgical vasovasostomy (VV) in caused by pediatric bilateral IHR. Materials methods Totally, 37 patients IHR were enrolled study from March 2015 to December 2020 Shanghai General Hospital. The...
Background. Aromatase inhibitors (AIs) can significantly improve semen parameters in infertile men. In this study, we investigated the efficacy of AIs for azoospermia a Chinese population with AZFc microdeletion. Aims. Patients microdeletion who were treated analyzed retrospectively by collecting clinical data, including their hormone profile and treatment outcome. divided into those sperm after AI (group A) without B). Results. The rate Y chromosome AZF microdeletions was 9.30% (313/3364)...