Novel Variants Lead to Aberrant Splicing in a Patient with Chediak-Higashi Syndrome.

The advent of next-generation sequencing (NGS) has revolutionized the analysis of genetic data, enabling rapid identification of pathogenic variants in patients with inborn errors of immunity (IEI). Sometimes, the use of NGS-based technologies is associated with challenges in the evaluation of the clinical significance of novel genetic variants. In silico prediction tools, such as SpliceAI neural network, are often used as a first-tier approach for the primary examination of genetic variants of uncertain clinical significance.

Realization of Intermolecular Interactions as a Basis for Controlling Pervaporation Properties of Membranes Made of Aromatic Polyamide-Imides.

New aromatic co-polyamide-imides (coPAIs) containing both carboxyl and hydroxyl groups in the repeating units were synthesized for the first time. Transport, thermal and morphological properties of dense nonporous membranes from PAIs obtained using the diacid chloride of 2-(4-carboxyphenyl)-1,3-dioxoisoindoline-5-carboxylic acid and diamines 5,5'-methylene-bis (2-aminophenol)) and 3,5-Diaminobenzoic acid, taken in molar ratios of 7:3, 1:1, and 3:7, have been studied. High levels of membrane permeability accompanied by high selectivity for mixtures of liquids with significantly different polarities were determined by realization of intra- and intermolecular interactions in polymer, which was proved by thermal analyses and hydrodynamic characteristics of coPAIs.

Mucoadhesive polyelectrolyte complexes of fucoidan and chitin nanowhiskers to prolong the antiprotozoal activity of metronidazole.

The improvement of the specific pharmacological activity of agents with antimicrobial and antiprotozoal properties (e.g. metronidazole, MET) is of interest for clinical applications in the treatment of bacterial infections.

Delivery system for dexamethasone phosphate based on a Zn-crosslinked polyelectrolyte complex of diethylaminoethyl chitosan and chondroitin sulfate.

Hybrid nano- and microparticles based on metal ion crosslinked biopolymers are promising carriers for the development of drug delivery systems with improved biopharmaceutical properties. In this work, dexamethasone phosphate-containing particles based on chondroitin sulfate and chitosan or diethylaminoethyl chitosan additionally crosslinked with Zn were prepared. Depending on the polycation/polyanion ratio in the system, anionic and cationic polyelectrolyte complexes (PECs) were obtained.