: duplication syndrome (MDS) (MIM#300260) is a rare X-linked neurodevelopmental disorder. This study aims to (1) develop a specific clinical severity scale, (2) explore its correlation with clinical and molecular variables, and (3) automate diagnosis using the Face2gene platform. : A retrospective study was conducted on genetically confirmed MDS patients who were evaluated at a pediatric hospital between 2012 and 2024.
View Article and Find Full Text PDFWe report the development of a new electron-rich aniline (ERA)-based cleavable linker. Anilines can be incorporated into peptides during SPPS and are stable to most reaction conditions. ERA-containing peptides can be cleaved rapidly in the presence of oxidants, such as DDQ, CAN, and NaIO, in 30 min at room temperature.
View Article and Find Full Text PDFSurfactant monolayers at sea spray aerosol (SSA) surfaces regulate various atmospheric processes including gas transfer, cloud interactions, and radiative properties. Most experimental studies of SSA employ a simplified surfactant mixture of long-chain fatty acids (LCFAs) as a proxy for the sea surface microlayer or SSA surface. However, medium-chain fatty acids (MCFAs) make up nearly 30% of the FA fraction in nascent SSA.
View Article and Find Full Text PDFBackground: Swine dysentery (SD) is a severe mucohaemorrhagic colitis in pigs caused classically by Brachyspira hyodysenteriae. Although several aspects of B. hyodysenteriae infection dynamic are already described, further research in the early stage of this infection is required.
View Article and Find Full Text PDF