Background. Hypertrophic cardiomyopathy (HCM) is one of the most common form of cardiomyopathy in children, with an estimated annual incidence of 2.9 per 100,000 children. The management of patients with HCM requires high healthcare costs. Registry-based medical research is an important tool in assessing health care decision making. Objective. To analyze the costs of the state for the management of pediatric HCM based on the data of the pediatric patient registry. Materials and methods. The study was performed on the basis of the Department of Pediatric Cardiology and Medical Rehabilitation of the Almazov National Medical Research Centre. Currently, the electronic database includes information on 159 children with HCM, including 52 (34 %) girls. The mean age of onset of HCM was 5 years [0; 11], and 68 (44.4 %) children had the onset of myocardial hypertrophy before the age of 1 year. Medical costs included direct medical costs of drug therapy, surgical treatments (implantation of a cardioverter-defibrillator and myectomy) and hospitalization, and indirect costs which included the costs of family caregiving; social benefits due to disability, and death impact on the gross domestic product. Results. The total economic impact of HCM in the context of government spending, is RUB 107.8 million, including medical costs of RUB 27.96 million, direct nonmedical costs of RUB 13.17 million, and indirect costs of RUB 66.7 million. Indirect costs accounted for the lion’s share (61.8 %) of economic impact. Direct medical costs were 26 % of economic impact. The average impact of family caregiving accounted to RUB 11,263.89, and total value were RUB 1.04 million. Conclusion. The intermediate results of our study allow to estimate the economic impact of pediatric HCM to the state. Optimization of financial resource use will help reduce the economic impact on the state to the healthcare sector in the future.  

Background. Warfarin has a wide variability in response, depending on the pharmacogenetic profile and vitamin K intake. The aim of the study was to analyze the amount of vitamin K supplied with food, its effect on the efficacy and safety of warfarin therapy in patients with different pharmacogenetic profiles. Materials and methods: The study included 34 people taking warfarin and 70 healthy volunteers, residents of St. Petersburg and the Leningrad region. Vitamin K consumption was determined using food diaries, genetic variants of VKORC1, CYP2C9 and CYP4F2 were determined using DNA-Technology kits on a DT-96 detection amplifier of the same manufacturer. Results. Vitamin K consumption by healthy volunteers was 84.4 ± 5.4 mcg/day, while in patients taking warfarin it was 63.9 ± 7.4 mcg/day (p < 0.0001), and the higher the daily vitamin K consumption by patients, the more stable the response and the shorter the time the patient spends outside the therapeutic INR range. The carriage of the AA3730 VKORC1 and TT1347 CYP4F2 genotypes, which determine a reduced ability to metabolize vitamin K, which entails a higher level of vitamin K in the liver and requires increased doses of warfarin, was 16 % and 7 % of patients, respectively. The *2 and *3 alleles of the CYP2C9 gene were detected in 33.8 % of patients. These alleles significantly affected the stability of warfarin therapy, so in 91 % of cases of exceeding the therapeutic interval of INR in patients, variants of CYP2C9*2 or CYP2C9*3 were detected, and only in 56 % of cases of INR below the therapeutic interval in patients were these variants detected (p < 0.03). Conclusion. Vitamin K consumption by patients taking warfarin is significantly lower than that of healthy residents of the North-West region. Low vitamin K consumption reduces the stability of hypocoagulation in patients taking warfarin.  

Training staff in personalized medicine implies modernisation of the traditional learning model that is to incorporate a curricular thread spanning all the stages (pre-university, undergraduate, post-graduate) of a doctor’s professional development.

The article presents the experience of the Institute of Medical Education of The Almazov National Medical Research Centre in training personnel prepared to implement the principles of personalized medicine in domestic healthcare.

Background. Breast cancer is one of the most common malignancies in women. Modern treatment methods, such as chemotherapy, can cause adverse effects on the central nervous system, including cognitive impairment known as “chemobrain”. Brain imaging techniques, such as voxel-based morphometry (VBM), are essential for diagnosing these changes. Objective. The study aimed to assess changes in brain structure volumes in breast cancer survivors using voxel-based morphometry. Design and Methods. The study included 86 patients (mean age 43.27 ± 4.38 years) who underwent breast cancer treatment and 26 healthy volunteers (mean age 44 ± 5.68 years). MRI of the brain was performed using the MPRAGE sequence to exclude organic pathology and analyze brain structure volumes. Data analysis was conducted using the VolBrain platform. Results. Morphometric analysis revealed a statistically significant reduction in gray and white matter volumes in breast cancer patients after chemotherapy compared to the control group. This reduction was accompanied by complaints of cognitive decline, including memory and attention deficits, which correlated with decreased brain structure volumes. Conclusion. Voxel-based morphometry enables the detection of subtle changes in brain structure in breast cancer survivors. The results confirm the significant impact of chemotherapy on the central nervous system and highlight the need for early diagnosis and rehabilitation of cognitive impairments.

Background. Breast cancer is one of the most common malignancies in women. Modern treatment methods, such as chemotherapy, can cause adverse effects on the central nervous system, including cognitive impairment known as “chemobrain”. Brain imaging techniques, such as voxel-based morphometry (VBM), are essential for diagnosing these changes. Objective. The study aimed to assess changes in brain structure volumes in breast cancer survivors using voxel-based morphometry. Design and Methods. The study included 86 patients (mean age 43.27 ± 4.38 years) who underwent breast cancer treatment and 26 healthy volunteers (mean age 44 ± 5.68 years). MRI of the brain was performed using the MPRAGE sequence to exclude organic pathology and analyze brain structure volumes. Data analysis was conducted using the VolBrain platform. Results. Morphometric analysis revealed a statistically significant reduction in gray and white matter volumes in breast cancer patients after chemotherapy compared to the control group. This reduction was accompanied by complaints of cognitive decline, including memory and attention deficits, which correlated with decreased brain structure volumes. Conclusion. Voxel-based morphometry enables the detection of subtle changes in brain structure in breast cancer survivors. The results confirm the significant impact of chemotherapy on the central nervous system and highlight the need for early diagnosis and rehabilitation of cognitive impairments.

Venous thromboembolism (VTE) is a serious threat to patients undergoing cancer treatment, especially in advanced and metastatic diseases. In neuro-oncology, the incidence of VTE depends on the location and stage of the tumor. Some primary and secondary brain tumors have an increased propensity for thrombotic events. In this study, we applied state-of-the-art machine learning methods, particularly XGBoost, to create models to search for predictors associated with the risk of VTE in glioma patients. By comparing the diagnostic accuracy of our XGBoost models with traditional logistic regression approaches, we aim to advance the understanding of VTE prediction in this patient population. Our results add to the growing body of research on thrombosis risk assessment in cancer patients and may help in the development of personalized prevention and treatment strategies to reduce the risk of VTE in hospitalized glioma patients.

Secondary arterial hypertension is characterized by a diverse range of etiological factors, making the clarification of its underlying causes a fundamental aspect of both diagnosis and treatment. Accurate identification of the etiology of hypertension directly influences therapeutic strategies and has significant implications for patient prognosis. In certain instances, molecular genetic testing may be necessary to pinpoint the specific etiological factor with greater precision. Among the rare but noteworthy causes of secondary arterial hypertension is pseudohypoaldosteronism, which can often remain undiagnosed for prolonged periods or be misclassified as primary hypertension. This article presents the clinical case of a 15-year-old female patient diagnosed with type IIE pseudohypoaldosteronism, emphasizing the critical role of differential diagnosis in managing arterial hypertension in pediatric and adolescent populations. We will explore the principal clinical manifestations of the condition, as well as the laboratory, instrumental, and molecular genetic findings that facilitated the accurate diagnosis and optimization of treatment for this patient.