Rare Pathogenic Variants in Pooled Whole-Exome Sequencing Data Suggest Hyperammonemia as a Possible Cause of Dementia Not Classified as Alzheimer's Disease or Frontotemporal Dementia.

The genetic bases of Alzheimer's disease (AD) and frontotemporal dementia (FTD) have been comprehensively studied, which is not the case for atypical cases not classified into these diagnoses. In the present study, we aim to contribute to the molecular understanding of the development of non-AD and non-FTD dementia due to hyperammonemia caused by mutations in urea cycle genes. The analysis was performed by pooled whole-exome sequencing (WES) of 90 patients and by searching for rare pathogenic variants in autosomal genes for enzymes or transporters of the urea cycle pathway.

Analysis of biofilm formation in nosocomial Stenotrophomonas maltophilia isolates collected in Bulgaria: An 11-year study (2011-2022).

The present study aimed to explore the genotypic and phenotypic characteristics of biofilm formation in Bulgarian nosocomial Stenotrophomonas maltophilia isolates (n = 221) during the period 2011-2022, by screening for the presence of biofilm-associated genes (BAG) (spgM, rmlA and rpfF), their mutational variability, and assessment of the adherent growth on a polystyrene surface. The methodology included: PCR amplification, whole-genome sequencing (WGS) and crystal violet microtiter plate assay for biofilm quantification. The overall incidence of BAG was: spgM 98.

Bulgarian Marine and Freshwater Fishes as a Source of Fat-Soluble Vitamins for a Healthy Human Diet.

The aim of the present study evaluates the fat-soluble vitamins all- retinol (vitamin A), cholecalciferol (vitamin D₃) and α-tocopherol (vitamin E) content in the fresh edible tissue of Bulgarian fish species: marine-grey mullet () and bonito (), and freshwater-rainbow trout () and common carp (). The sample preparation procedure includes alkaline saponification, followed by liquid-liquid extraction with -hexane. All- retinol, cholecalciferol and α-tocopherol were analyzed simultaneously using RP-HPLC\UV\FL system with analytical column C18 ODS2 Hypersil™.

Intralesional bleomycin as alternative therapy in the treatment of multiple basal cell carcinomas.

An 82-year-old female with with multiple basal cell carcinomas is presented. Her history includes treatment for similar lesions for 15 years with surgical and X-ray methods. We injected intralesional bleomycin to eight new histologically proven basal cell cancers.

[The functional state of the adrenal cortex in patients with gonadal dysgenesis and a female phenotype].

Excretion of 17-KS and 17-OCS was studied in the urine of 86 patients with various cytogenetic variants of gonad dysgenesis of a female phenotype under basic conditions and after ACTH stimulation; in 10 patients endogenous hypophyseal ACTH reserve after block of the adrenal cortex by metopyrone was investigated as well. A conclusion was drawn on the presence in these patients of differnet types of deviations of the adrenal gland function. In some of the cases there is a primary "global" or dissociated injury of the adrenal cortex, apparently directly associated with gonosome anomaly; in other cases--with disturbed regulation of ACTH secretion.