Renal cell carcinoma (RCC) is a common renal neoplasia of various morphological types, among which clear cell RCC is most common. It is believed that the miRNA-29 family, including miRNA-29a, miRNA-29b and miRNA-29c, is associated with aggressiveness and prognosis of malignant neoplasms and can be a promising biomarker for predicting the initiation, progression and pathogenesis of cancer. Expression levels of miRNA-29a, -29b, and -29c were determined in 30 pairs of normal and tumor tissue samples from the kidneys of patients with RCC using real-time quantitative PCR. A statistically significant decrease in miRNA-29a expression was found (Fold change = 0.213; p-value = 0.0016) in tumor tissue compared with normal renal parenchyma.

Kidney cancer is a heterogeneous group of malignant tumors, the vast majority of which are renal cell carcinomas (RCC) of various morphological types, of which the most common is the clear cell renal cell carcinoma (ccRCC). Particular attention in the carcinogenesis of the ccRCC is given to a number of tumor suppressor genes located on the short arm of the third chromosome. One of these genes, which are inactivated in the case of ccRCC is the PBRM1 gene encoding the PBAF SWI/SNF subunit of the chromatin remodeling complex, BAF180. The PBRM1 gene is located on the short arm of the third chromosome in the 3p21 region near the von Hippel-Lindau gene (VHL), the mutation in which is the main event in the occurrence of ccRCC. The aim of our investigation is identification of changes in the nucleotide sequence of the PBRM1 tumor suppressor gene in patients with ccRCC. 210 pairs of DNA samples isolated from ccRCC tissue were studied. Analysis of changes in the nucleotide sequence of DNA was carried out by HRM analysis and direct sequencing. In the PBRM1 gene, two somatic mutations were found (c.233G>A (p.D45N) in exon 2, c.1675-1676delTC in exon 15) which were not described previously, and one known polymorphic variant rs17264436 (in exon 23). The frequency of detected mutations was 0.95 % of cases. Analysis of the allelic association for the polymorphic locus rs17264436 showed a statistically significant increase in the risk of developing advanced kidney cancer in carriers of allele rs17264436*A, which can be used in the development of prognostic marker panels. Perhaps the low frequency of mutations in the samples we studied is due to the fact that the inactivation of the PBRM1 gene takes place in other ways, and may also be due to the ethno-specificity of the studied group of patients.

Introduction. Urolithiasis is one of wide-spread in the urological diseases distribution and considered socially significant one. In various regions of Russia, Republic of Bashkortostan is one of them, the endemicity of this pathology is revealed and statistically proved. The formation of stones in the urinary system is caused by a number of social and genetic factors. Nowadays, there are many methods of treatment of urolithiasis. According to the National recommendations and Guidelines of the European Association of urology, the choice of operational intervention method depends on the size of the concrement and the form of nephrolithiasis. despite the low invasiveness of surgical treatment, 10-15% end up in sequela. Taking into account the mentioned above it is important to analyze efficacy and safety of nephrolithotripsy through one’s own experience. Aim: To evaluate the efficacy and safety of nephrolithotripsy in various forms of nephrolithiasis. Materials and methods. The study group included 365 patients who underwent percutaneous nephrolithotripsy in the clinic of the Bashkir state medical University. In the preoperative period, patients were examined according to the standard scheme, according to the results (localization, size of concrements), the most suitable access for percutaneous nephrolithotripsy was selected. In the preoperative period, patients were examined according to the standard scheme, according to the results (localization, size of concrements), the most suitable access for percutaneous nephrolithotripsy was selected. The efficacy of the surgical treatment was evidenced by the complete removal of concrements or calculi up to 4 mm. Clavien-dindo classification served as a scale of evaluation of postoperative complications. Results. By the gender type-men 175(47.9%), women 190 (52.2%). The age of patients was from 22 to 83 years. The average size of the calculus was 2.4 cm (0.8 - 7.8 cm). The average operation time was 83 min (23-258 min). The average bed day was 5.6. According to the classification of Clavien-dindo complications of 1 degree were observed in 123 (33.7%) of patients, 2 degree in 2 (0,5%) patients, 3a degree 1 (0.3%) and 4b degree was observed in 1 (0,3%) patient, there were no complications of 5 degree. Summary. Percutaneous nephrolithotomy has come out as one of the highly effective and safe methods of treatment of nephrolithiasis.

Kidney cancer is a heterogeneous group of malignant tumors, the vast majority of which are renal cell carcinomas (RCC) of various morphological types, of which the most common is the clear cell renal cell carcinoma (ccRCC). Particular attention in the carcinogenesis of the ccRCC is given to a number of tumor suppressor genes located on the short arm of the third chromosome. One of these genes, which are inactivated in the case of ccRCC is the PBRM1 gene encoding the PBAF SWI/SNF subunit of the chromatin remodeling complex, BAF180. The PBRM1 gene is located on the short arm of the third chromosome in the 3p21 region near the von Hippel-Lindau gene (VHL), the mutation in which is the main event in the occurrence of ccRCC. The aim of our investigation is identification of changes in the nucleotide sequence of the PBRM1 tumor suppressor gene in patients with ccRCC. 210 pairs of DNA samples isolated from ccRCC tissue were studied. Analysis of changes in the nucleotide sequence of DNA was carried out by HRM analysis and direct sequencing. In the PBRM1 gene, two somatic mutations were found (c.233G>A (p.D45N) in exon 2, c.1675-1676delTC in exon 15) which were not described previously, and one known polymorphic variant rs17264436 (in exon 23). The frequency of detected mutations was 0.95 % of cases. Analysis of the allelic association for the polymorphic locus rs17264436 showed a statistically significant increase in the risk of developing advanced kidney cancer in carriers of allele rs17264436*A, which can be used in the development of prognostic marker panels. Perhaps the low frequency of mutations in the samples we studied is due to the fact that the inactivation of the PBRM1 gene takes place in other ways, and may also be due to the ethno-specificity of the studied group of patients.

Timeliness. Renal cell carcinoma (RCC) is a malignant neoplasm of the kidney which accounts for about 3% of all cancers. Recent studies have shown the important role of miRNAs in the occurrence and progression of cancer. We hypothesized that genetic polymorphisms of microRNA binding sites may be associated with RCC risk. Aim of investigation. Search for associations of polymorphic variants of miRNA binding sites rs6773576 CDCP1 gene, rs10982724 DEC1 gene, rs10491534 TSC1 gene with the risk of renal cell carcinoma, and the severity of the disease. Methods. We studied 255 DNA samples from 255 RCC patients and 298 controls. Genotyping of polymorphic loci was performed by real time PCR using TaqMan-competing probes. Results. We found allele rs10491534*C to be a marker of severe renal cell carcinoma (p = 0.044; OR = 1.72 (CI = 1.012-2.911)). Genotype rs10491534*T/T (p = 0.044; OR = 0.55; (95% CI = 0.31-0.98)) - protective marker against severe RCC. The most significant association of rs10491534 in TSC1 gene with the severity of the disease was found in the dominant model: the combination of genotypes *C/T+*C/C vs *T/T (p = 0,03; OR = 1.82 (95% CI = 1.05-3.15)). Conclusions. The revealed markers of RCC severity may be promising for the prognosis of the RCC.

Evisceration of the pelvic organs (EPO) is a fairly uncommon surgical treatment that removes all organs from a patient's pelvic cavity. We use gracilis musculocutaneous flap to repair pelvic floor after EPO. Over the period from November 2013 to December 2014 we carried out EPO with reconstructive repair of the pelvic floor with gracilis musculocutaneous flap in 10 patients with locally advanced pelvic tumors. We describe the surgical procedure and surgical outcomes in these patients. Mean age of the patients was 55 years. Mean duration of EPO with the pelvic floor repair was 285 min., mean blood loss--595 mL and the average length of hospital stay--19 days. Gracilis musculocutaneous flap has a sufficient arterial supply and mobility for pelvic floor reconstruction. Necrosis of flap's distal edge occurred in one of the 10 clinical cases, while the remaining flaps were fully preserved. Complete healing of wounds with no signs of weakening of the pelvic floor muscles was observed in all cases. Pelvic floor reconstruction is an essential procedure in order to reduce complications associated with the evisceration of the pelvic organs. The Gracilis musculocutaneous flap is the logical alternative to repair pelvic floor defect. It does not contribute to complications like functional deficiency of the lower limbs, complications of stoma formation or weakening of the muscles of the anterior abdominal wall.

Background: BLM gene belongs to the RecQ helicase family and has been implicated in the maintenance of genomic stability. Homozygous and compound heterozygous BLM gene mutations cause Bloom syndrome, an inherited recessive clinical syndrome, which is characterized by chromosomal instability and a predisposition to cancer. The aim: To reveal BLM gene mutations in prostate cancer patients. Methods: We analyzed 124 DNA samples of prostate cancer patients from the Republic of Bashkortostan and used the following methods: the DNA isolation from peripheral blood by phenol-chloroform extraction; polymerase chain reaction (PCR); high resolution melting (HRM) analysis; direct sequencing. The functional significance of the mutations was analyzed using the following programs: SIFT, PolyPhen-2, Mutation Assessor, Mutation Taster, CADD. Results: We revealed 4 missence mutations (c.C1237A (p.L413I), c.A1490C (p.Q497R), c.C2603T (p.P868L), c.G3961A (p.V1321I) and several synonymous variants (с.G3102A (p.T1034T), c.C3531A (p.A1177A)) in the BLM gene.

The analysis of 91 prostate cancer patients found 2 cases of heterozygous carrier of 5382insC mutation in BRCA1 gene (2.1%). The investigation of 100 healthy men identified only one person with the mutation (1%). Neither prostate cancer patients nor healthy individuals had a family history of prostate cancer.