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The Sagliker syndrome is a severe chronic complication of dialysis treatment presenting with facial skull mutilation (uglifying), changes in limb bones, teeth, and neurological and psychological changes, developing in association with secondary hyperparathyreoidism due to long-standing calcium-phosphate metabolism and dihydroxy vitamin D abnormalities in patients with end-stage renal disease. It was described in 2004 by Y. Sagliker et al. Many clinical, radiological and genetic abnormalities have been described in such patients. Depression is another serious complication of chronic kidney disease, leading to disability. Different mechanisms have been proposed for its development. The authors present the recent knowledge on Sagliker syndrome and depression in chronic kidney disease. [ABSTRACT FROM AUTHOR]

The review describes the current views on urothelial carcinoma carcinogenesis. Based on the up-todate genetic studies, molecular pathways determining the development of superficial and invasive bladder cancers are considered. It was demonstrated that the development of noninvasive bladder tumors occurred predominantly through oncogenes activation, while the genesis of invasive cancer is based on inactivation of tumor suppressor genes. Principal mechanisms of multiple and recurrent bladder tumors development are discussed including its monoclonal and oligoclonal models.One of the most promising nowadays approaches is the determination of new generation markers, such as molecular genetic abnormalities in the hereditary apparatus of the cell underlying its malignant transformation. Molecular markers' panels used for diagnostics, prognosis, and monitoring of urothelial carcinoma patients are analyzed.

Objective: To study the somatic mutational status of the FGFR3 gene in urothelial bladder cancer (BC) and evaluate its relationship with the clinical and morphological characteristics of the tumor, deficiency of the DNA mismatch repair (dMMR), PD-L1 tumor status, and immunohistochemical (IHC) expression of the p16 protein., Material and Methods: Surgical material of 40 patients with BC, on which the mutational status of the FGFR3 gene was studied using the molecular genetic method, as well as the MMR status, PD-L1 and p16 expression by the IHC method., Results: FGFR3 mutations, such as G370C, S249C, S371C/Y373C, R248C, were detected in 35.0% of the studied BC samples. FGFR3 status did not depend on the gender and age of patients, as well as on the degree of tumor lymphoid infiltration (TILs). Statistically significant differences were found in the analysis of FGFR3 status depending on the histological structure and degree of tumor differentiation, as well as on the pT stage. The FGFR3 status of BC was not associated with the IHC expression of the studied proteins of the MMR system, as well as with the PD-L1 status. Higher levels of PD-L1 expression were demonstrated by BC tumor cells, in which no aberrations in FGFR3 were detected. There was no significant association between p16 status and the presence of FGFR3 mutations, but for FGFR3-positive carcinomas, the basal pattern of p16 staining by IHC was noted., Conclusion: A positive somatic mutational status of the FGFR3 gene was statistically significantly more common in the group of papillary low-grade non-muscle-invasive BC, demonstrating basal p16 IHC staining. In the study sample, there was no statistically significant relationship between the FGFR3 status of BC and gender and age differences, TILs, MMR status, PD-L1 status (SP142 and 22C3), and p16 status. The results of the study indicate the need to determine the FGFR3 status in patients with BC for further prescription of personalized therapy.

The transcription factor KAISO is important for proper development of animal embryos. In the cell, KAISO regulates cell division and apoptosis. KAISO is abundant in the central nervous system. Here we describe the effects of Zbtb33 gene knockout on the transcription of several genes that regulate the development of the central nervous system, including Fgf9, Fgfr3, Sox9, Sox2, c-Myc, NeuroD1 and FoxG1. These genes are related to the Wnt/β-catenin signaling pathway, which is closely connected to KAISO. Hippocampal, frontal cortical, and striatal tissue from C57BL/6j mice with a knockout in the Zbtb33 gene encoding KAISO (ZBTB33-) and wild-type mice (ZBTB33+) were collected and profiled at different stages of development. Age-dependent and region-specific differences in the mRNA levels of the Fgf9, Fgfr3, c-Myc, FoxG1 genes in the developing brain of ZBTB33- and ZBTB33+ mice were described and discussed.