Nonrecurrent Triplication of 5q21.3q23.3: A Case Report and Review of the Literature.

Triplications involving 5q21.3q23.3 are rare, and a phenotype has not been established.

Phylogenetic analysis of variants of the Puumala virus (Hantaviridae: ) circulating in the Saratov region.

Unlabelled: The objective is to determine the complete nucleotide sequence and conduct a phylogenetic analysis of genome variants of the Puumala virus isolated in the Saratov region.

Materials And Methods: The samples for the study were field material collected in the Gagarinsky (formerly Saratovsky), Engelssky, Novoburassky and Khvalynsky districts of the Saratov region in the period from 2019 to 2022. To specifically enrich the Puumala virus genome in the samples, were used PCR and developed a specific primer panel.

Distribution of dissolved trace elements in the Laptev Sea affected by the Lena River discharge.

This study presents new data on concentration of dissolved trace elements (DTE) in the Lena River-Laptev Sea mixing zone. Mean concentrations of some dissolved heavy metals in the mixing zone of fresh waters of the Lena River and sea waters of the Laptev Sea on the middle shelf and on the outer shelves are: 0.7± 0.

Phylogenetic Characterization of Rabies Virus Field Isolates Collected from Animals in European Russian Regions in 2009-2022.

Rabies is a fatal disease of mammals that poses a high zoonotic risk to humans as well. The distribution of rabies is mainly driven by host animal migration and human-mediated dispersion. To contribute to the global understanding of the rabies virus (RABV) molecular epidemiology, 94 RABV field isolates collected from animals in 13 European Russian regions were phylogenetically characterized using the nearly full-size N gene nucleotide sequences.

A novel de novo intragenic duplication in FBN1 associated with early-onset Marfan syndrome in a 16-month-old: A case report and review of the literature.

Marfan syndrome (MFS) is an autosomal dominant connective tissue disorder due to pathogenic variants in Fibrillin-1 (FBN1) affecting nearly one in every 10,000 individuals. We report a 16-month-old female with early-onset MFS heterozygous for an 11.2 kb de novo duplication within the FBN1 gene.