Publications by authors named "P N Vasiliev"
Article Synopsis
- Bi-allelic pathogenic variations in a specific gene are linked to various hereditary disorders, including the rare Wiedemann-Rautenstrauch syndrome (WRS), which shows neonatal symptoms like growth issues and distinctive facial features.
- This study details a clinical case of a 7-year-old girl with WRS, where whole-exome sequencing revealed a novel missense variant and two intronic variants associated with the condition.
- The findings confirm the pathogenic nature of these genetic changes, contributing to the understanding of POLR3A-related disorders and highlighting the need for further research in the area.
Dendritic spines form most excitatory synaptic inputs in neurons and these spines are altered in many neurodevelopmental and neurodegenerative disorders. Reliable methods to assess and quantify dendritic spines morphology are needed, but most existing methods are subjective and labor intensive. To solve this problem, we developed an open-source software that allows segmentation of dendritic spines from 3D images, extraction of their key morphological features, and their classification and clustering.
View Article and Find Full Text PDFHypercytokinemia, or cytokine storm, is one of the severe complications of viral and bacterial infections, involving the release of abnormal amounts of cytokines, resulting in a massive inflammatory response. Cytokine storm is associated with COVID-19 and sepsis high mortality rate by developing epithelial dysfunction and coagulopathy, leading to thromboembolism and multiple organ dysfunction syndrome. Anticoagulant therapy is an important tactic to prevent thrombosis in sepsis and COVID-19, but recent data show the incompatibility of modern direct oral anticoagulants and antiviral agents.
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