[Molecular and genetic technologies for the diagnosis of monogenic forms of urinary stone disease: clinical cases].

Kidney stone disease (KSD) is an actual problem of modern health care. By now, more than 80 monogenic forms of urolithiasis have been described. To diagnose such forms of KSD different molecular genetic technologies are used. In the current article 5 clinical cases of KSD among the patients aged 1-9 years old are presented. All of them underwent comprehensive instrumental, clinical, laboratory and molecular genetic investigations. DNA analysis was carried out by Next Generation Sequencing method (NGS) (target NGS-panels and Whole Exome Sequencing). In all cases the molecular genetic cause of the disease was found - idiopathic infantile hypercalcemia type 1 (gene CYP24A1 - 3 cases) and cystinuria (gene SLC7A9 - 2 case). Several unknown genetic variants were found in CYP24A1 (c.1379G>T, c.1156A>T, c.1286T>C) and SLC7A9 (c.920T>A). The importance of genetic testing and the role of genetic counseling for patients with KSD were shown.

[Genetic aspects of primary hyperoxaluria: diagnostics and treatment].

Primary hyperoxaluria is a group of inherited metabolic diseases characterized by increased formation of calcium-oxalate stones in kidneys with development of nephrolithiasis and chronic kidney disease. The article summarizes the modern information on the diagnostics and treatment of the disorder depending on genotype of the patient (AGXT, GRHPR, HOGA1 genes). The evaluation of the molecular genetic aetiology of the kidney stone disease contributes to the personalized treatment and prevention of the pathology in the patients and their relatives.

[Genetic aspects of primary hyperoxaluria: epidemiology, ethiology, pathogenesis, and clinical signs of the disorder].

Primary hyperoxaluria is a group of rare inherited diseases characterized by impaired oxalate metabolism with the early manifestation of urolithiasis and the development of the chronic kidney disease. The mutations in the AGXT, GRHPR, HOGA1 genes are attributable for different types of primary hyperoxaluria leading to the dysfunction of specific enzymes involved in the oxalate metabolism. The article summary the current data on the epidemiology, genetic and biochemical aspects of pathogenesis of the primary hyperoxaluria types 1-3. The variety of clinical signs and disease severity depend on the type of hyperoxaluria.

Peculiar Effects of Electromagnetic Millimeter Waves on Tumor Development in BALB/c Mice.

The study examined the effects of millimeter electromagnetic waves at a frequency of 130 GHz corresponding to the molecular absorption and radiation spectra of NO and O2 with the total exposition time of 6 h on tumor morphogenesis in 3- and 6-month-old tumor-prone BALB/c mice of both sexes. In experimental mice exposed to electromagnetic radiation, the development of cancer process was slowed down throughout the observation period; moreover, no macroscopic signs of the tumors were revealed. However, in contrast to control mice, experimental animals demonstrated the formation of pathological reactions reflected by hepatic biochemical indices accompanied by the development of dystrophic and microcirculatory alterations in the liver tissue.

Effects of Electromagnetic Fields Modulated by Infralow Frequencies on the Production of Stem Cells.

Experimental validation of the method for regulation of stem cell proliferation and differentiation is carried out. The method consists in exposure to ultrahigh frequency electromagnetic radiation, modulated by infralow frequencies with variable parameters. A specially designed programmer, setting up the parameters of exposure, is connected to the source of radiation. The zones of anatomical location of the red bone marrow of rats were exposed for 15 min to the amplitude-modulated electromagnetic radiation of ultrahigh frequency range. The parameters of exposure were determined in previous studies. The red bone marrow was collected from the sternum and head of the femur. The cellular composition of the red bone marrow was evaluated 1, 2, 3, and 6 days after the exposure. The optimal therapeutic mode of irradiation was then chosen, leading to stem cell activation with subsequent proliferation and differentiation into mature red bone marrow cells.

[Genetic factors for monogenic forms of calcium urolithiasis].

The article presents pooled results of domestic and international studies investigating genetic aspects of urolithiasis associated with impaired calcium metabolism. The review highlights the importance of early and accurate diagnosis of hereditary diseases associated with kidney stone formation. Of more than 80 currently known monogenic forms of urolithiasis, the authors provide the list of the most significant forms. Using such molecular genetic methods as NGS (next generation sequencing) allows accurate detection of the genetic cause of the disease, develop an individual approach the patients management and timely prevention of the disease among the relatives of the proband.

[The differentiated diagnostic of chronic salpingoophoritis and ovary cancer on the basis of immunologic and discriminant techniquea.]

The ovary cancer and chronic salpingoophoritis are among leading pathologies of female's sexual sphere and a main cause of morbidity and mortality of female population. The purpose of study was to select leading differential diagnostic indices of systemic cellular immunity and to carry out a differentiation of patients with ovary cancer and chronic salpingoophoritis using discriminant technique. The differentiated diagnostic of ovary cancer and chronic salpingoophoritis was applied to 92 and 87 patients correspondingly to indices of systemic cellular immunity and analyzed by flow cytometry technique. It is demonstrated that the main differential diagnostic indices of systemic cellular immunity in case of ovary cancer and chronic salpingoophoritis are decreasing of relative content of natural killers, absolute number of B-lymphocytes and T-helpers. The developed discriminant models permit to carry out in 91.8%-92.1% cases a faultless differentiated diagnostic of ovary cancer and chronic salpingoophoritis. The approach like that increases quality of differentiated diagnostic of ovary cancer and chronic salpingoophoritis.

[The diagnostic significance and clustering of parameters of systemic humoral immunity under acute endometritis.]

The acute endometritis is an actual medical problem in the structure of gynecological pathology and its complications result in incapacitation, infertility and lethality. The purpose of study is to ameliorate laboratory diagnostic of acute endometritis at the expense of selection of diagnostically significant and similar clusters of systemic humoral immunity. he analysis was carried out concerning parameters of systemichumoral immunity in 154 patients with post-natal acute endometritis and 103 patients with non-complicated post-natal period using the radial immunodiffusion technique. The selection of diagnostically significant parameters was implemented at the basis of indices of shifting, disintegration and cluster analysis method. The leading value for laboratory diagnostic of acute endometritis according indices of shifting, disintegration and cluster analysis among parameters of systemic humoral immunity keep content of IgA in blood, absolute number of SD20+ and circulating immune complexes. The selection of diagnostically significant and similar indices of humoral immunity permits to decrease number of detecting parameters at the diagnostic of acute endometritis.

[Genetic aspects of urolithiasis].

The article presents summarized results of domestic and international studies of the genetic aspects of urolithiasis. The presented evidence suggests the importance of early and accurate molecular genetic diagnostics of hereditary diseases associated with stone formation for timely treatment and prevention for patients' relatives. Also provided are examples of using molecular genetic diagnostics in urologist's practice for monogenic and multifactorial diseases associated with stone formation. Taken together, these results show that using modern post-genomic technologies for assessing the risk of hereditary predisposition to urolithiasis is justified.

Experimental study of reproduction in C57Bl/6 and random-bred mice exposed to nonionizing high-frequency radiation.

Experimental study of changes in the reproductive function in 10 generations descending from C57Bl/6 and random-bred mice exposed to nonionizing radiation showed a trend to deviation of this function from the normal: the number of newborns in the litter of generations 3-5 was below the normal, which starting from generations 5-6 it gradually increased, approaching the normal.

Effect of low-intensity extremely high frequency radiation on reproductive function in wistar rats.

The exposure to low-intensity extremely high frequency electromagnetic radiation during spermatogenesis was accompanied by pathological changes, which resulted in degeneration and polymorphism of spermatozoa. The number of newborn rats increased in the progeny of irradiated animals.

Exposure to low-intensive superhigh frequency electromagnetic field as a factor of carcinogenesis in experimental animals.

Inbred albino mice and C57Bl/6 mice were exposed to nonthermal radiation of 37 GHz frequency in order to detect delayed effects caused by repeated irradiation. The detected pathomorphological changes and the dynamics of their formation suggest that these factors are responsible for delayed formation of immunodeficiency provoking mutagenic and carcinogenic effects.

Regulation of proteolytic activity of pepsin in rats [correction of mice] by rotating electromagnetic field.

In experiments on Wistar rats we studied the effect of low-frequency electromagnetic field rotating in either right-handed or a left-handed sense on proteolytic activity of pepsin. The right-handed rotating field increased, while left-handed rotating field decreased pepsin activity. Possible mechanisms of these changes in pepsin activity are discussed.

Effect of rotating electromagnetic fields on proteolytic activity of pepsin in rats.

We studied the effect of 37-GHz electromagnetic field on proteolytic activity of pepsin in Wistar rats. The plane of polarization of the electromagnetic fields rotated in either right-handed or left-handed sense (D- and L-chirality). D-Polarization stimulated, while L-polarization suppressed pepsin production.

Effect of delta-rhythm-modulated extremely high frequency electromagnetic radiation on rats.

Extremely high frequency electromagnetic radiation modulated with a frequency equal to cerebral delta-rhythm oscillations induced electrosleep in rats.

Effect of high-frequency low-intensity irradiation on reproductive function in C57Bl/6 and randombred mice.

The effect of high-frequency low-intensity radiation on reproductive function was studied on C57Bl/6 and randombred mice. We revealed a progressive decrease in the number of offspring, prevalence of males over females in all generations, and the appearance of stillbirths. The decrease in the number of offspring was probably related to increased number of homozygotes and decreased number of heterozygotes in the population under the influence of nonthermal radiation.

Shielding effect of mineral schungite during electromagnetic irradiation of rats.

We studied the effect of nonthermal 37-GHz radiation on hemopoiesis in schungite-shielded Wistar rats. Radiation with right-handed or left-handed rotation of the polarization plane of electromagnetic wave was used. Shielding with schungite decreased the severity of damage produced by high-frequency electromagnetic radiation.

[On bioethical and legal studies of use of gene therapy]. / O bioéticheskoí i pravovoí prorabotke voprosov primeneniia genoterapii.

The bioethical and legal issues of research developments and the use of gene therapy in Russia are discussed. Prerequisites for development of gene therapy, the trends of researches and the national specific features of the application of gene therapy (religious confessions, ethnicity, health care service) are dealt with.