Squamous intraepithelial lesions – controversial topic in laringeal pathology in the field of terminology, etiology, histological classification, treatment and prognostic factors. The Ljubljana classification, comparison of data of different classifications regarding malignant alteration, molecular changes in different degrees of SILs.
COBISS.SI-ID: 25820121
Spindle cell carcinoma is a subtype of the squamous cell carcinoma with characteristic spindle cells, structure of adherent junctions are changed, desmososms disappear, expression of the transcription factors Snail, Slug, SIP in Twist is eleveted similatly as in epithelial-mesenchymal transition in experimental conditions.
COBISS.SI-ID: 25819865
Our autopsy and biopsy study originally demonstrated that thrombotic microangiopathy related histopathology, both acute and chronic, represents important constituent of APS. In addition to widely accepted thrombosis of large and small blood vessels, these findings appear in accord with hypothesis that antiphospholipid antibodies are implicated in pathogenesis of ASP by different mechanisms, including endothelial cell activation and injury, as well as interference with coagulation cascade.
COBISS.SI-ID: 25266137
We reported an MSI analysis approach using quasimonomorphic mononucleotide repeats and denaturating high performance liquid chromatography (DHPLC). DHPLC conditions for analysis of MSI multiplex assay were evaluated and tested. Analysis and cross-examination of the results, obtained from 96 colorectal tumours using DHPLC and capillary electrophoresis showed the same sensitivity and specificity of the two approaches for detecting MSI-H tumours. Overall, we developed a high-throughput, robust, accurate and cost-effective approach for the detection of MSI-H tumours.
COBISS.SI-ID: 26558425
Darier disease (DD) is an autosomal dominant genodermatosis, caused by mutations in the ATP2A2 gene. We presented clinical, demographic, and genetic analysis of the cohort of Slovenian DD patients, representing 52% of DD patients in the country. We examined 28 patients with DD and screened genomic DNA for ATP2A2 mutations and RNA for splice site mutations. We identified 7 different ATP2A2 mutations, 4 of which are novel and 2 previously described polymorphisms and were able to identify deafness as new phenotipical characteristic of DD patients.
COBISS.SI-ID: 4264474