Vol 17, No 2 (2022)

Calpainopathy is the most common form of limb-girdle muscular dystrophy, prevalence in the population is approximately 1 in 15,000–42,700 individuals. In the Russian Federation, there is an insufficient number of studies, which researched prevalence of calpainopathy among patients with limb-girdle muscular dystrophy, but according to available data, approximately in 43% of cases the disease is associated with mutations of the CAPN3 gene. Molecular genetic analysis is the main method for diagnosing these patients. Studies indicate many pathogenic mutations that cause calpainopathy with corresponding phenotypes, however, it is quite difficult to establish clear correlations between genotype and phenotype due to the high variability of symptoms and severity, even among patients with the same CAPN3 gene mutations. Currently, there is no effective etiotropic treatment for limb-girdle muscular dystrophy, but new technologies are developing to improve patients’ condition and quality of life. This research collects data from various studies on the prevalence of calpainopathy in different countries and the main molecular genetic features of the CAPN3 gene and calpain-3 protein, which will further allow the development of possible treatment options for patients with limb–girdle muscular dystrophy.

The lack of significant progress in improving the results of treatment for patients with chronic lower limb ischemia (CLLI) determines a necessity to search new approaches to solve this problem. One of the promising methods for treatment of patients with CLLI is therapeutic angiogenesis. Gene and cell therapy clinical trials for this pathology have been carried out in the world for more than 20 years and showed conflicting results. It is extremely difficult to produce a drug based on cellular material, therefore the development of gene-based therapies is more promising. In most of the analyzed studies, patients with critical limb ischemia, i.e with initially with a high risk for major amputation, were included. Since the process of neoangiogenesis takes several months, it seems more logical to use that option for treatment in the earlier stages of the disease.

VEGF-165 is the most studied angiogenic agent. Only VEGF-165 is registered as a drug for treatment of patients with CLLI. There are publications on the effectiveness of treatment with a plasmid VEGF-165-gene therapy in patients with stages II and III of CLLI according to the Fontaine–A.V. Pokrovsky classification in a five-year follow-up study.

Autophagy is required to maintain cellular homeostasis and organ function by selectively ridding cells of potentially toxic proteins, lipids, and organelles. Impaired homeostasis of autophagic processes is associated with metabolic disorders such as obesity and type 2 diabetes mellitus. In obesity, a violation of autophagy in adipose tissue and its inflammation contributes to the formation of type 2 diabetes mellitus.

The aim of the study was to analyze the expression of autophagy genes in the adipose tissue of the greater omentum and to search for their relationship with the levels of cytokines of the IL-10 family in blood plasma in obese patients, depending on the presence or absence of type 2 diabetes mellitus.

Blood plasma and visceral adipose tissue samples were studied from 347 obese patients with and without type 2 diabetes. A biochemical analysis of the patients' blood was carried out. The level of cytokines was detected by flow fluorometry. Gene expression was determined by real-time PCR, and tissue-specific protein production was determined by immunoblotting. Statistical processing of the results was carried out using GraphPad Prism 9.0.0 software.

Plasma levels of IL-10, IL-20, IL-22, IL-28A, and IL-29 are increased in obese patients without type 2 diabetes compared with patients with type 2 diabetes. In patients with type 2 diabetes mellitus, the expression of the SQSTM1_p62 and MAP1LC3B genes in the greater omentum increased compared to patients without it.

High plasma levels of IL-22 and IL-26 are associated with the presence of type 2 diabetes mellitus. In patients without type 2 diabetes mellitus, an increase in the level of IL-28A in blood plasma is associated with a decrease in the expression of autophagy genes SQSTM1_p62 and MAP1LC3B in the adipose tissue of the greater omentum.

The search for prognostic markers to determine the risk of dissemination and metastasis of colon adenocarcinoma is one of the most difficult and actual problems of modern oncomorphology.The aim of this work was to determine the possibility of using indicators of the proliferative activity of cancer stem cells in the prediction of hematogenous metastasis of colon adenocarcinoma.

In this work the surgical material from 32 radically operated patients of different ages suffering from a localized colon adenocarcinoma was explored, and relapse-free survival was assessed. A comparative analysis of various components of the tumor differon, including proliferating stem cells and their relationship with the formation of relapse was carried out.An index of stem cell proliferation was proposed to assess the influence of stem cell activity on the biological behavior of tumor.

The best rates of relapse-free survival were found in the group of patients with low value of the index of stem cell proliferation compared with patients which index took on high values, which is more typical for elderly and old patients. With a similar comparison of other indicators of tumor differon, including the percentage of ALDH1 and Ki-67-positive cells, as well as cells with the ALDH1⁺Ki-67⁺immenophenotype relative to the total tumor differon, no significant relationship with relapse-free survival was found.

These results may indicate a high role of ALDH1⁺ cell proliferation in tumor dissemination, especially in elderly and senile patients, and a lesser influence of both the proliferative activity of Ki-67 and the general population of stem cells on the formation of distant metastases.

Malignant neoplasms of the ovaries are one of the most frequently diagnosed tumors of the female reproductive system and one of the leading causes of cancer death in women worldwide. Despite significant advances in the field of early diagnosis and treatment of the disease, the survival rate of patients with this form of oncopathology is still low, which dictates the need for further study of this problem. The aim of the work was to evaluate the role of polymorphic variants rs13181 and rs238406 of the ERCC2 gene in the development of hereditary and sporadic forms of ovarian cancer in women of different ethnicity from the Republic of Bashkortostan. The material for the study was DNA samples of women with sporadic forms of ovarian cancer (n=182), hereditary forms of ovarian cancer (n=65) and women without cancer at the time of blood sampling (n=292) of various ethnic origins. Genotyping was performed by polymerase chain reaction (PCR) followed by analysis of restriction fragment length polymorphism. As a result of the study, an association of the rs13181*C allele of the ERCC2 gene with the risk of developing hereditary and sporadic forms of ovarian cancer in women of Russian ethnicity was established. An association of the rs238406*GT genotype of the ERCC2 gene with the risk of developing sporadic forms of ovarian cancer was revealed. The data obtained indicate the involvement of the studied polymorphic variants in the pathogenesis of ovarian cancer in our region.

The relationship between the liver and the peritoneum is an important element in a body homeostasis maintaining. Morphofunctional changes occurring in the liver in response to fecal peritonitis allow a better understanding of this relationship. Despite the existing researches, some aspects of the pathological changes occurring in the liver in fecal peritonitis require a special study.

Purpose: to describe the composition and dynamics of the lymphocytic-leukocytic infiltrate in the liver in conditions of experimental fecal peritonitis.

The study was conducted on Balb/c (n=5) mice with artificially induced fecal peritonitis. One animal was euthanized on 1, 3, 5, 7 and 14 day of the experiment. Immunophenotyping of inflammatory infiltrate cells was performed on liver tissue samples using antibodies to CD3, CD45, CD163. Morphometric analysis was carried out with the calculation of the number of cells per unit area.

It was shown that the highest intensity of infiltration by CD45⁺-cells is observed on the 3rd day of the experiment with a subsequent decrease; infiltration by CD3⁺-cells increases by the 5th day of the experiment without further dynamics; infiltration of CD163⁺-cells — by day 7 without further changes.

Conclusions: the severity of the liver parenchyma infiltration by immune cells in dynamics reflects the organ reaction to experimental fecal peritonitis.

This discussion article presents the theoretical background and results of our own histological study of the ampulla of the papilla of Vater in various animals to explain the absence of the gallbladder in some animals. In particular, the authors studied the structure of the duodenal mucosa in rats and rabbits. They suggest that the evolutionary loss of the gallbladder in some animals is associated with the need for rapid movement in space and high maneuverability. The realization of these properties may be hindered by a fluid-filled organ.