Currently, molecular genetic methods play an essential role in the diagnostic process for diverse pathologies. The introduction of mass parallel sequencing has significantly increased the amount of data on DNA variants in patients with various diseases, but the clinical significance of many of these findings remains unknown. Widely used methods of variant effect evaluation include the automatic determination of the pathogenicity of variants using specialized predictors. Domestic and international guidelines for the interpretation of data obtained through mass parallel sequencing recommend the use of predictive programs to determine the clinical significance of genetic variants. However, there is a lack of detailed information about the principles and characteristics of these programs in the scientific literature. In this review, we present the basic principles that are used to evaluate the pathogenicity of variations using the example of some of the most widely used predictive programs.

The ganglia of the wrist joint, located on the back of the wrist, are one of the most common hand formations. They are tumor-like structures connected to the joint through a curved pedicle and filled with a gel-like fluid containing mucopolysaccharides. These formations are formed in the area of the navicular ligament. The causes of their occurrence are not fully understood, but factors such as constant physical exertion and hyperelasticity of ligaments may contribute to their development. The incidence is higher among women and the dorsal ganglion is usually not painful, being considered as a cosmetic problem. There is also the concept of a «hidden ganglion», which is not clinically apparent and can only be detected by specialized examination techniques such as magnetic resonance imaging or ultrasound.
The objective was to analyze the possible causes of recurrence of the dorsal wrist ganglion after excision.

Onconephrology is a branch of medical science located at the junction of specialties (oncology and nephrology), which deals with aspects of kidney diseases that have arisen against the background of cancer treatment, as well as the course of the oncological process against the background of previously identified chronic kidney disease (CKD). The literature review highlights some problems related to the treatment of cancer patients with kidney dysfunction: epidemiology, features of diagnostic and dynamic examinations, surgical and chemotherapeutic treatment, as well as a number of organizational problems that arise when planning treatment for this complex group.

Introduction. A number of authors have shown changes of hormonal status in adults with multiple sclerosis (MS) compared to healthy volunteers. At the same time, there are few such studies in the pediatric population, conducted on small groups, with ambiguous and contradictory results, which indicates the need for further research in this area.
The objective was to determine the endocrine status features in adolescents with MS in comparison with healthy children and adult patients with MS, to assess the relationship between the levels of pituitary hormones, thyroid hormones, cortisol, sex hormones and the activity and severity of MS in adolescents and adults.
Methods and materials. The main group consisted of 33 adolescent patients with pediatric MS, the comparison group included 22 adult patients with MS, and the control group comprised 26 healthy adolescents. All participants underwent assessments for the concentrations of prolactin, follicle-stimulating hormone, luteinizing hormone, adrenocorticotropic hormone, thyroid-stimulating hormone, total and free thyroxine, triiodothyronine, cortisol, testosterone, dihydrotestosterone, estradiol, and 17-hydroxyprogesterone. In addition, clinical and MRI characteristics of the disease were evaluated in patients with MS.
Results. Prolactin levels in adult and adolescent patients with MS were definitely higher than in a control group. Adolescents with higher cortisol levels at baseline showed a lower severity of motor dysfunction (r=–0.59, p<0.001) and disability as measured by the Expanded Disability Status Scale (EDSS) (r=–0.49, p=0.004). A similar correlation was found for 17-hydroxyprogesterone: adolescents with higher levels of this hormone had less disability according to EDSS (r=–0.36, p=0.04). Adult patients with MS showed a moderate inverse correlation (r=–0.47, p=0.03) between 17-hydroxyprogesterone levels and the severity of cerebellar dysfunction. Adolescents experiencing an MS exacerbation had higher prolactin levels (p=0.04) and lower 17-hydroxyprogesterone levels (p=0.02) compared to those in remission.
Conclusion. In adolescents and adults with MS, prolactin levels were significantly higher than in a control group of healthy adolescents. For the first time, a negative correlation between the baseline levels of endogenous steroid hormones and the degree of disability in several functional systems has been demonstrated in adolescents and adults. Changes in prolactin and 17-hydroxyprogesterone levels during MS exacerbation have been observed in adolescents, suggesting that both indicators may be potential targets for developing laboratory markers for disease reactivation.

Introduction. The accumulation of neurotoxic forms of alpha-synuclein protein in brain tissues plays a key role in the pathogenesis of Parkinson’s disease (PD). In this case, lysosome dysfunction is considered as one of the possible causes of alpha-synuclein accumulation in cells. The commonality of the pathogenesis of PD and lysosomal storage diseases (LSD) is discussed. Mutations in two genes, GBA1 and SMPD1, leading to the development of Gaucher and Niemann-Pick А/В diseases, respectively, are associated with a high risk of PD development. The contribution of rare variants in other LSD genes is discussed.
The objective of this study was to assess the association of rare gene variants of lysosomal storage diseases and Parkinson’s disease in the North-Western region of Russia.
Methods and materials. An analysis of data obtained as a result of massive parallel sequencing of 44 genes associated with lysosomal storage diseases was carried out in 496 patients with PD and 401 individuals in the control group.
Results.The study revealed a statistically significant difference in the frequency of occurrence of pathogenic and likely pathogenic variants of the LSD genes among patients with PD compared to the control group (p<0.05). An association of pathogenic and opportunistic rare variants of the ARSA and SGSH genes with an increased risk of PD development was revealed.
Conclusion. The obtained data confirm the role of rare variants of the LSD genes in PD pathogenesis.

Introduction. The course of multiple sclerosis (MS) in children and adults has numerous differences, which may require the development of differentiated treatment approaches depending on the patient’s age. However, the pathogenetic basis of the above differences remains unclear. The objective was to evaluate the clinical features of pediatric MS and their relationship with the cytotoxic T-cell (Tcyt) subsets in peripheral blood.
Methods and materials. The main group consisted of 33 patients with pediatric MS of adolescent age. In the main group and the comparison group of 22 adults with MS, clinical and MRI characteristics of the disease were assessed. In the main group, as well as in 28 adults with MS and 26 healthy adolescents, the main Tcyt subsets were identified, based on the expression of CD45RA and CD62L and co-expression of chemokine receptors CCR4, CCR6, CXCR3 and CXCR5.
Results. The frequency of exacerbations and occurrence of highly active and rapidly progressing MS (HAMS) in pediatric MS was 1.5 times higher than in adults. An equivalent relationship between the severity of cerebellar disorders and HAMS was demonstrated both in the pediatric MS group and in adults. Adolescents with MS showed a significantly increased relative numbers of effector memory Tcyt expressing CCR6. For the first time, a relationship was determined between the effector Tcyt expressing CCR6 and highly active pediatric MS (p=0.04). A 2.5-fold increase of the relative numbers of CCR6-positive terminally differentiated Tcyt was found in patients with MRI activity compared to the patients in radiological remission (p=0.01). The results of ROC analysis showed high sensitivity (75.0 %) and specificity (89.7 %) of the CCR6+-positive effector memory Tcyt relative number in predicting the activity of the pediatric MS.
Conclusions. The disability level has a significant relationship with the frequency of exacerbations in both pediatric MS patients and adults, and the frequency of exacerbations in pediatric MS patients during the first years of the disease is higher than in adults. The obtained results demonstrate a higher activity of T-cell component of the immune system in patients with pediatric MS compared to adults, in particular, various effector Tcyt subsets. The relative number of CCR6-positive effector memory Tcyt above 55.4 % can be considered as a prognostic marker of HAMS in pediatric MS.

The objective was to evaluate the effect of fish oil and ozonated fish oil in the dynamics of biochemical parameters of blood plasma while modeling physical activity up to “to failure” in rats.
Methods and materials. The animals were divided into 4 groups of 16 rats. Saline was administered orally to control animals (group 1). Rats (group 2) were fed fish oil (dose 35 mg/kg) (FO), rats of group 3 received ozonated fish oil (dose 35 mg/ kg, ozonide number 3000) (OFO 3000), group 4 – ozonated fish oil (dose 35 mg/ kg, ozonide number 1500) (OFO 1500). Physical activity was simulated by the method of forced swimming of rats «to failure» with a load of 10 % of body weight. Blood sampling was performed from the hyoid vein 6 times: the initial level of indicators was determined, after stress tests (4 times) and after drug withdrawal (on day 3). The blood samples were assessed for glucose, lactate, urea, creatinine, AST, ALT.
Results. Physical activity caused a decrease in glucose concentration in all groups at the stages of loading tests with its subsequent recovery after drug withdrawal. The use of OFO 3000 showed exclusion because the index remained decreased after the drugs cancellation. Physical activity in the control group was accompanied by the most pronounced increase in lactate. The use of FO and OFO 1500 levelled the increase in lactate compared to the control group. The concentration of urea increased in the control group, with the action of FO, OFO 3000 and remained at the level of initial values with the use of OFO 1500. The concentration of creatinine increased in all groups, the least pronounced at the action of use of FO and OFO 1500. Creatinine concentration increased most strongly with OFO 3000 and did not recover after drug withdrawal. AST and ALT after physical activity increased at stages after exercise tests in all groups. However, with the use of FO and OFO 1500, a decrease in indices by the 4th exercise test and a pronounced recovery after drug cancellation were observed.
Conclusion. Oral administration of OFO 1500 with physical exertion of significant intensity to a greater extent caused the preservation of muscle tissue and a reduction in the recovery time of the body after excessive physical exertion «to failure».

Introduction. Youth’s family values and reproductive attitudes, which are formed under the influence of many factors, including age, sex, health status and psychological characteristics, social environment, religion, need to be shaped. Reproductive attitudes influence the reproductive behavior, and therefore, the reproductive health, the protection of which is under special state control.
Objective. Based on the analysis of questionnaires, to assess the state of reproductive attitudes of visitors of Saint-Petersburg Center for Adolescent Reproductive Healthcare “Juventa” and students of the Pavlov University.
Methods and materials. An online survey was conducted in the period of 2024. It consisted of 713 respondents (610 women and 103 men) aged from 16 to 24, who were visitors of Saint-Petersburg Center for Adolescent Reproductive Healthcare “Juventa” and students of the Pavlov University. A comparative analysis of the survey results was performed.
Results. Reproductive attitudes are mostly positive, which is reflected in the importance and responsibility for health, future parenthood, and readiness to take on responsibilities for the upbringing and participation in the development of future children. An important factor in maintaining reproductive health is knowledge on the psychology of reproductive relations, family planning, legal issues, orientation to the own opinion when making decisions about the health, the desire to receive reliable information from specialists from early adolescence and from an online resource (convenient sites, applications, resources made to host materials about reproductive health taking into account sex and age characteristics).
Conclusions. The most important information contributing to the formation of youth’s reproductive attitudes aimed at preserving reproductive potential is knowledge on family planning, responsible parenthood, and family values, which emphasizes the need to develop preventive programs including educational activities adapted for youth, taking into account age, psychological and social characteristics, modern technologies and capabilities.

Introduction. At least 348 million patients worldwide suffer from bronchial asthma (BA). It has been established that in women, hormonal status, namely female sex hormones such as estradiol and progesterone, prolactin, luteinizing hormone (LH), follicle-stimulating hormone (FSH), contributes to the course and development of BA.
The objective was to evaluate hormonal status and inflammation indices in menopausal women suffering from BA.
Methods and materials. Our study involved 71 patients suffering from mild to moderate BA, outside of exacerbation of the disease, in menopause. The control group consisted of 16 healthy menopausal women. All subjects underwent determination of the level of estradiol, progesterone, follicle-stimulating hormone (FSH), luteinizing hormone (LH), prolactin, cortisol, immunoglobulin E, IL-1α, IL-4 and IL-8, nitric oxide (FENO), cytological examination of spontaneous sputum, as well as spirometry with a bronchodilator.
Results. In the group of patients with BA, the level of estradiol was almost 2 times lower compared to the control group (p<0.05), while the level of progesterone was, on the contrary, lower in the control group compared to patients with BA (p<0.05). The level of prolactin was almost 2 times lower in the studied group of patients with BA compared to the control group (p<0.05). A higher level of FSH was found in the group of patients with BA compared to the control group (p<0.05), LH levels were practically the same in the study group and the control group, the LH/FSH level was significantly lower in the study group of patients than in the control group (p<0.05).
Conclusion. In all patients, compared to the control group, the estradiol level was significantly lower (p<0.05), although it did not go beyond the established laboratory norms, progesterone, on the contrary, was higher than normal values, and also significantly exceeded the readings of the control group (p<0.05). Probably, such hyperprogesteronemia, not typical for this period of a woman’s life, along with relative hyperprolactinemia, can cause a milder course of BA in our patients and have a favorable effect on the prognosis of the disease.

This article presents a clinical case of the first vaginal delivery of the 44-year-old patient, who previously had five caesarean sections. the patient arrived at the hospital during the beginning of the second stage of labor. According to an mri-test conducted two months after the delivery, the thickness of myometry in the scars area of the uterus ranged from 7 to 16 mm.

Introduction. Visualizing a violation of the patency of the duct system of the salivary glands is a difficult task for a medical practitioner. Obstruction is possible due to various pathological conditions from calculus to stenosis. Ultrasound examination may be the primary stage in the algorithm for diagnosing salivary glands.
The objective was to implement the latest diagnostic method for the pathology of the ductal system of the parotid salivary glands using ultrasound examination (ultrasound) with intraductal echocontrast agent based on a clinical case.
Methods and materials. The patient L. came with complains of enlargement of the left parotid-chewing area when eating. She underwent a number of examinations, including ultrasound without contrast and without salivation stimulation at the outpatient stage. Cone beam computed tomography combined with sialography (CBCT-sialography), diagnostic sialoscopy, dynamic scintigraphy, as well as ultrasound with contrast of the ductal system.
Results. As a result of the conducted studies, the patient was diagnosed with pathology of the Stenon duct of the left parotid salivary gland. The patient is preparing for an elective surgery.
Conclusion. The authors describe the clinical case of using ultrasound contrast agent for non-tumor pathology of the salivary gland. This method has increased its informative value. Therefore, further research and experience accumulation are necessary.