Epididymis cell atlas in a patient with a sex development disorder and a novel NR5A1 gene mutation / 亚洲男科学杂志(英文版)

This study aims to characterize the cell atlas of the epididymis derived from a 46,XY disorders of sex development (DSD) patient with a novel heterozygous mutation of the nuclear receptor subfamily 5 group A member 1 (NR5A1) gene. Next-generation sequencing found a heterozygous c.124C>G mutation in NR5A1 that resulted in a p.Q42E missense mutation in the conserved DNA-binding domain of NR5A1. The patient demonstrated feminization of external genitalia and Tanner stage 1 breast development. The surgical procedure revealed a morphologically normal epididymis and vas deferens but a dysplastic testis. Microfluidic-based single-cell RNA sequencing (scRNA-seq) analysis found that the fibroblast cells were significantly increased (approximately 46.5%), whereas the number of main epididymal epithelial cells (approximately 9.2%), such as principal cells and basal cells, was dramatically decreased. Bioinformatics analysis of cell-cell communications and gene regulatory networks at the single-cell level inferred that epididymal epithelial cell loss and fibroblast occupation are associated with the epithelial-to-mesenchymal transition (EMT) process. The present study provides a cell atlas of the epididymis of a patient with 46,XY DSD and serves as an important resource for understanding the pathophysiology of DSD.

Analysis and Identification of Sesquiterpenes in Alpinia oxzphylla Miq Based on UPLC-Q-Orbitrap HRMS / 中草药

Objective: To establish a rapid and accurate analytical method for the identification of complex system of traditional Chinese medicine, and to systematically clarify the chemical composition of sesquiterpenes in Alpinia oxyphylla. Method: On the basis of optimizing the extraction process of sesquiterpenes, the accurate molecular weight and secondary fragment ions information of unknown compounds were captured by ultra-high performance liquid chromatography-quadrupole/orbitrap high resolution mass spectrometry (UHPLC-Q-Orbitrap HRMS). Compared with the relative retention time and mass spectrometry data of the reference substance, combined with relevant references and databases, the sesquiterpene unknown compounds in the fruits of A. oxyphylla were accurately and rapidly characterized. Results: A total of 24 sesquiterpenes were identified and classified into four categories according to their skeleton structure, including nine eudesmane-type, six cadinane-type, eight eremophilane-type, and one oplopanone-type. Conclusion: In this study, the established analytical method was used to realize the rapid and accurate identification of sesquiterpenes in the fruits of A. oxyphylla, which provided a theoretical basis for the research on the pharmacodynamic substance basis and quality control of the fruits of A. oxyphylla.