AnFiSA: An open-source computational platform for the analysis of sequencing data for rare genetic disease.

Despite genomic sequencing rapidly transforming from being a bench-side tool to a routine procedure in a hospital, there is a noticeable lack of genomic analysis software that supports both clinical and research workflows as well as crowdsourcing. Furthermore, most existing software packages are not forward-compatible in regards to supporting ever-changing diagnostic rules adopted by the genetics community. Regular updates of genomics databases pose challenges for reproducible and traceable automated genetic diagnostics tools. Lastly, most of the software tools score low on explainability amongst clinicians. We have created a fully open-source variant curation tool, AnFiSA, with the intention to invite and accept contributions from clinicians, researchers, and professional software developers. The design of AnFiSA addresses the aforementioned issues via the following architectural principles: using a multidimensional database management system (DBMS) for genomic data to address reproducibility, curated decision trees adaptable to changing clinical rules, and a crowdsourcing-friendly interface to address difficult-to-diagnose cases. We discuss how we have chosen our technology stack and describe the design and implementation of the software. Finally, we show in detail how selected workflows can be implemented using the current version of AnFiSA by a medical geneticist.

[Endothelial dysfunction in patients with lower-limb varicose disease and possibilities of correction thereof].

Endothelium as the main structural unit of the vessel appears to exert a considerable influence on the processes of regulation of the cardiovascular system. The authors generalize herein and present the findings of the studies aimed at investigating endothelial dysfunction in varicose disease. Based on analysing the results of various methods of study they show importance of endothelial dysfunction, followed by discussing possibilities of medicamentous correction thereof, proceeding from pathogenetic mechanisms of its development.

[Effect of nonionizing microwave radiation on autoimmune reactions and antigenic structure of serum proteins]. / Vliianie neioniziruiushchei mikrovolnovoi radiatsii na autoimmunnye reaktsii i antigennuiu strukturu syvorotochnykh belkov.

The authors discuss the possibility of stimulating the autoimmune reactions of the organism by microwave irradiation. The immunochemical analysis of protein fractions of blood serum has revealed a destabilization of functional activity of the immune system humoral factors at 500 W/cm2 which is manifested by the formation of a new protein with the immunoglobulin G physico-chemical properties.