Genetic, Clinical, and Pathologic Backgrounds of Children With X-Linked Alport Syndrome in China: A Monocenter Study.

Background. Characteristics of X-linked Alport syndrome (XLAS) in a cohort of Chinese children. Methods. This work is a retrospective study covering the clinical information, pathological data, and gene sequencing results of 32 cases with XLAS from 2011 to 2022. Results. Among these 32 patients, the youngest age of onset was 3 months. Renal biopsy was performed on 29 children. The lamellated glomerular basement membrane was observed in 19 children using electron microscopy (65.5%). Of the 26 samples tested, 73.1% were found to be negative for collagen-a5 under immunohistochemical staining, showing clinical significance. Next-generation sequencing (NGS) detected 27 pathogenic gene mutations. A total of 15.4% of patients carried de novo mutations. Conclusions. The boys with XLAS showed more typical pathological performance than the girls. Patients with severe mutation were more likely to have proteinuria and hearing impairment. Renal pathology combined with NSG is an important means of diagnosis of AS.

Exploration of perfluorooctane sulfonate degradation properties and mechanism via electron-transfer dominated radical process.

Polyfluoroalkyl and perfluoroalkyl chemicals (PFCs) widely used in lubricants, surfactant, textiles, paper coatings, cosmetics, and fire-fighting foams can release a large deal of organics contaminants into wastewater and pose great risks to the health of humans and eco-environments. Although advanced oxidation processes can effectively deconstruct various organic contaminants via reactive radicals, the stable structure of PFCs makes it difficult to be degraded. Here, we confirm that electrochemical oxidation process coupled with peroxymonosulfate (PMS) reaction can efficiently destroy stable structure of PFCs via electron transfer and meanwhile completely degrade PFCs via generated active radicals. We further studies via capturing and scavenging radicals, and DFT calculations find that electron hydroxyl radials play a dominant role in degrading PFCs. Based on the calculations of adsorption energy and molecular orbital energy we further demonstrate that many active sites on the surface of Ti4O7 (1 0 4) plane can rapidly take part in electrochemical reaction for generating radials and removing organic contaminants. These results give a promising insight towards high-effective and deep degradation of PFCs via electrochemical reaction coupled with advanced oxidation processes, as well as providing guidance and technical support for the remove of multiple organic contaminants.