[Infective endocarditis in a patient with vision disorders].

Roth spots are petechiae of the retina with a white or pale center that corresponds to a bundle of cotton wool or a multinuclear leukocyte aggregate. Often considered a sign of bacterial endocarditis, they are an unspecific symptom, usually more commonly seen in patients with hematopoietic system diseases. A 56-year-old patient reported to the hospital due to sudden visual impairment.

[Visual disorder after visual contact with a geodetic laser].

Macular edema is a rare complication that can occur under the influence of light. Damage occurs as a result of focusing the light beam on the macula. A 23-year-old patient reported to the hospital due to a sudden reduction in visual acuity of the left eye after visual contact with a geodetic laser at work.

Mutations in Pol gene of hepatitis B virus in patients with chronic hepatitis B before and after therapy with nucleoside/nucleotide analogues.

Chronic hepatitis B (CHB) is one of the most common infections worldwide. Currently approved treatments of CHB include nucleoside/nucleotide analogues (NAs). However, long-term NA therapy is associated with accumulation of resistant mutations within the hepatitis B virus (HBV) polymerase gene.

Contribution of VCAF-positive cells to neovascularization and calcification in atherosclerotic plaque development.

Calcification of the vessel wall is a regulated process with many similarities to osteogenesis. Progenitor cells may play a role in this process. Previously, we identified a novel gene, Vascular Calcification Associated Factor (VCAF), which was shown to be important in pericyte osteogenic differentiation.

GTF2IRD1 in craniofacial development of humans and mice.

Craniofacial abnormalities account for about one-third of all human congenital defects, but our understanding of the genetic mechanisms governing craniofacial development is incomplete. We show that GTF2IRD1 is a genetic determinant of mammalian craniofacial and cognitive development, and we implicate another member of the TFII-I transcription factor family, GTF2I, in both aspects. Gtf2ird1-null mice exhibit phenotypic abnormalities reminiscent of the human microdeletion disorder Williams-Beuren syndrome (WBS); craniofacial imaging reveals abnormalities in both skull and jaws that may arise through misregulation of goosecoid, a downstream target of Gtf2ird1.