[Analysis of carrying clinically significant allelic variants of TPMT and DPYD genes associated with the response to drug therapy in cancer practice among 9 ethnic groups of the Russian Federation].

AIM: To study the peculiarities of carrying clinically significant allelic variants of TPMT and DPYD genes associated with the response to drug therapy in cancer practice among 9 ethnic groups of the Russian Federation. MATERIALS AND METHODS: The study included 1446 conditionally healthy volunteers from 9 ethnic groups. Carriage of polymorphic TPMT and DPYD gene markers was detected by the Real-Time PCR (polymerase chain reaction) method. RESULTS: In all ethnic groups, the distribution of genotypes and alleles matched the equilibrium of Hardy-Weinberg. TPMT*3A (rs1800460) and TPMT*3C (rs1142345) were observed in heterozygous state in all investigated ethnic groups. In the Kabardinian group (n=204) the frequency of the TPMT*3A minor allele (MAF, %) was 2.94%; Balkars (n=200) 1.25%; Ossetians (n=239) 1.67%; Chuvashes (n=238) 1.89%: Mari (n=206) 1.21%; Tatars (n=141) 1.77%; Russians (n=134) 4.85%. The frequency of the TPMT*3C minor allele (MAF, %) in the Kabardinian group (n=204) MAF was 4.90%; Balkars (n=200) 1. 75%; Buryats (n=114) 0.44%; Ossetians (n=239) 1.88%; Chuvashes (n=238) 1.68%: Mari (n=206) 1.21%; Tatars (n=141) 1.42%; Russians (n=134) 4.48%. The results of the analysis of DPYD*2A polymorphism (rs3918290) demonstrated ethnic peculiarities of distribution. In the heterozygous state it was found only in the groups of Kabardins (n=204, MAF 1.22%), Balkars (n=200, MAF 2.00%), and Ossetians (n=239, MAF 0.63%). CONCLUSION: The results obtained in the study will be useful for developing personalized algorithms of antitumor therapy in cancer practice, including those aimed at increasing the safety of chemotherapy.

[Pathomorphological features of baby shaking syndrome]. / Patomorfologicheskie osobennosti sindroma tryaski mladentsa.

The aim of study is to identify pathomorphological changes of the Central nervous system in childhood with rarely diagnosed of «baby shaking¼ syndrome on the example of sectional case. The analysis of medical documentation (medical history and outpatient card of the child) was done. The standard method of opening the skull cavity of infants was used. Histological cuts of autopsy material were treated with hematoxilin-eosin coloring. The relationship of clinical and morphological manifestations of this pathology with anatomical and physiological features of the structure of the Central nervous system and its blood supply in children was stated. We describe in details the characteristic pathomorphological changes in the brain in childhood that occur with this syndrome. Dark red «flattened¼ blood coagulations of subtentorial localization and in the left convexital region were visualized in the cranial cavity. We paid attention to the presence of numerous bridge veins of the brain, flowing into the sagittal sinus (frontal and parietal) and the transverse sinus.

[Immunohistochemical study of tubulovillosis adenoma tubulovillous intestinal adenoma in the elderly.]

Frequency indices of tubulovillous adenoma are higher than the ones of colorectal cancer, and probably, the majority of adenomas are prone to malignancy. It is often impossible to determine which adenoma tends to tumorous neoplasia. However, increase in the adenomas and expressed dysplasia contribute to adenomas malignant transformation. In this regard, the purpose of the study is to evaluate cellular proliferation, apoptosis, beta-catenin in tubulovillous intestinal adenomas with varying degrees of dysplasia. The study used biopsy materials of tubulovillous adenomas obtained from 50 patients who underwent ectomy. After resection the adenomas were cut by the maximum size for the full thickness of tunicae mucosae, muscularis be included into the section. Immunohistochemical reactions used a cellular proliferation marker (Ki-67), that of apoptosis (P-53), of a transcription factor (ß-catenin). In tubulovillous adenomas with the low grade dysplasia degree there are low indicators of cellular proliferation and apoptosis, located primarily in basal glandular segments. As dysplasia degree increases, cellular division in the glandular epithelium intensifies and nuclear expression of beta-catenin appears as well. Against the background of a meaningful increase in cellular proliferation, a small number of cells in apoptotic condition are revealed. Thus, increased indicators of Ki-67 and ß-catenin in a tubulovillous adenomas in high grade dysplasia contributes to limiting cellular differentiation, violates intercellular contacts.