The histologic study of placental tissues in women with subcompensated chronic placental insufficiency associated with moderate COVID-19 was conducted. Histologic study of placenta from women of the main group revealed the following uncharacteristic specific signs of viral tissue damage: decidual vasculopathy, lymphoplasmacytic infiltration, thrombi in the venous vessels of the stem villi, villitis and intervillusitis, deposition of intervillous fibrinoid, hyperplasia of syncytiotrophoblast and chorangiosis. Morphometric analysis showed an increase in the proportion of perivorsinchal fibrin and capillaries in terminal villi, and a decrease in the density of syncytiotrophoblast membranes. In addition, an increase in the number of syncytial nodules and intermediate immature villi, as well as capillary bleeding in intermediate and terminal villi were found. The moderately severe course of COVID-19 in the second and third trimesters of pregnancy is associated with structural changes in the placenta, which, with insufficient efficiency of compensatory and adaptive mechanisms, is one of the causes of the development of subcompensated chronic placental insufficiency.

A cross-sectional study of echocardiographic parameters of the myocardium in patients with chronic heart failure (CHF) undergoing chemotherapy for breast cancer was conducted. The level of C-reactive protein (CRP) was assessed, and possible associations of chemotherapy with echocardiography parameters were evaluated. In the study group, statistically significant associations of CRP were found with such indicators as the blood flow rate in the late diastole caused by atrial contraction, the level of systolic pressure in the pulmonary artery and the left ventricular ejection fraction. Significant differences in these parameters were revealed compared with patients with CHF without cancer.

A study was conducted to determine the distribution of the 5-HTTLPR polymorphism in the serotonin transporter gene SLC6A4 in Yakut patients with confirmed SCA1. This polymorphism is considered a factor potentially influencing the mental state of patients with SCA1. The distribution of genotypes (LL, SL, SS) and alleles (L, S) was similar in patients and controls, with no significant differences observed (χ², p=0.610). The OR for S allele carriers was 1.201 (95% CI 0.690–2.092), indicating no reliable association between the 5-HTTLPR polymorphism and the presence of SCA1. However, the overall Yakut sample demonstrated a high frequency of the short S allele and the SS genotype. These findings suggest that allele and genotype frequencies of 5-HTTLPR do not differ significantly between patients and healthy individuals (p>0.05). Nevertheless, the high prevalence of the S allele and SS genotype in both groups may contribute to psycho-emotional vulnerability in the context of a severe disease course. Further studies are required to clarify the role of 5-HTTLPR in the development of depressive and anxiety disorders in patients with SCA1.

The placenta is the connecting link between mother and fetus. The article is devoted to the problem of identifying pathological changes in the placenta for the diagnosis of various clinical conditions in a premature extremely immature child. The continuous sampling method examined 131 afterbirth (96 afterbirth of extremely premature infants with a gestational age of less than 28 full weeks and 35 afterbirth of premature infants from 28 to 32 weeks of gestation). A comparative analysis of the main morphometric parameters of the placenta was performed; the presence of inflammatory diseases of the placenta (chorioamnionitis; deciduitis; placentitis; funiculitis, villousitis, phlebitis of umbilical cord vessels); the presence of acute placental circulatory disorders, chronic decompensated placental insufficiency. The results obtained for each of the latter were entered into a common database and subjected to statistical processing. When comparing the main clinical and morphometric parameters of live and stillborn babies at gestation from 22 to 32 weeks, a significant difference was found in fetal weight, gestation period, placenta mass and umbilical cord mass. An intrauterine infection, manifested by villousitis and deciduitis, increases the probability of stillbirth by 3.3 times at 22 to 28 weeks of gestation. The presence of placental involution increases the risk of stillbirth by 17.3 times. Histological examination of the placenta is an important step in diagnosing the causes of stillbirth at 22 to 32 weeks of gestation.

This article presents a study conducted to investigate changes in the oral microbiome composition in patients with GERD and esophagitis and to identify potential microbiological predictors of complications. In total 106 patients with a previously verified diagnosis participated. Quantitative real-time PCR was the primary method for assessing the oral microbiome composition. A significant decrease in all phyla of the studied bacteria was found in patients with GERD compared to the control group. The bacterial phyla studied can be used as a predictor of GERD development only in healthy individuals to determine the likelihood of inflammation in healthy mucous membranes, which requires further exploration and study of new biomarkers. The aim of the study: to determine the composition of the oral microbiome in patients with GERD of varying severity and to identify possible microbiological predictors of the development of GERD complications. A total of 106 men aged 35.5±3.4 years were examined, 27 of whom were somatically healthy and 79 of whom were diagnosed with GERD with esophagitis (according to the Los Angeles classification: 26 people with GERD-A, 25 people with GERD-B, and 28 people with GERD-C), who were in remission at the time of the examination. A comparison was made of the state of the oral microbiome in healthy men and men with gastroesophageal reflux disease. In patients with GERD-A and GERD-B, reliable differences were found only in relation to Bacteroidetes bacteria - a decrease in their level was noted, Firmicutes - an increase in their content in the oral cavity was recorded depending on the severity of GERD, as well as the phylum Tenericutes - an increase in the number of bacteria was revealed at severe stages of GERD. It is worth noting that in patients GERD-C recorded a reliable decrease in all phyla of the studied bacteria. The bacterial phyla we studied can be used as a predictor of the development of gastroesophageal reflux disease only in healthy individuals, in order to determine the likelihood of GERD with esophagitis.

The article presents a study of the frequencies of PNPLA3 and GCKR gene variants in samples of Yakuts, Evenks, and Russians. A total of 728 people living in the Sakha Republic (Yakutia) participated (331 Yakuts, 147 Evenks, and 250 Russians). Single nucleotide polymorphisms were determined by polymerase chain reaction followed by restriction fragment length polymorphism analysis. The study revealed significant differences between the studied samples. For the rs738409 polymorphism of the PNPLA3 gene, the G allele was 72-75% in Yakuts and Evenks versus 53% in Russians. For the rs2294918 polymorphism, the protective allele A is virtually absent in Yakuts (6.7%) and very rare in Evenks (17%), the Russian population has a significantly higher proportion of A (43%). For rs1260326 of the GCKR gene, the risk allele T was more common in Russians than in Yakuts and Evenks. For the associated SNP rs780094, Russians have a higher percentage of the risk allele A, approximately 48% versus 40% in Yakuts and 44% in Evenks. Linkage disequilibrium (LD) analysis between the pair of polymorphisms rs738409 and rs2294918 in the PNPLA3 gene showed an extremely weak association between these SNPs. Polymorphisms rs780094 and rs1260326 GCKR demonstrated strong linkage in all three studied samples. In the Russian sample, an association was noted between the genotype of the rs738409 PNPLA3 polymorphism and the concentration of triglycerides, and polymorphisms of the GCKR gene showed a significant effect on ALT activity. The obtained data are consistent with the hypothesis that some pathological alleles became established in northern populations due to previous adaptive advantages, but in modern conditions, they have transformed from beneficial to harmful.

The article conducts a study on the effect of early cardiological rehabilitation on physical function and clinical outcomes in patients after mitral or aortic valve replacement. The study included 20 patients (12 in the intervention group, 8 in the control group) who underwent elective heart valve surgery. The intervention group received early rehabilitation from day 2 after surgery, including physical activity, walking, and endurance exercises. The assessment was performed before surgery, at discharge, and 6 months later using the SPPB, SF-12, 6MWT, and HADS scales. The analysis was performed in IBM SPSS Statistics 21.0. Results. The patients in the intervention group demonstrated significant improvements in physical function (SPPB), endurance (6MWT), and PCS compared with the control group. SPPB proved to be a statistically significant predictor of readmission (p = 0.017) and mortality (p = 0.006) during 6 months of follow-up. Early cardiac rehabilitation is safe, effective and can be considered as a mandatory stage of treatment for patients after valve replacement. Further studies with an expanded sample are needed to confirm the long-term effectiveness of the program.

This study is devoted to studying the frequencies of pathological gene variants (LEPR, FADS1, FADS2, FABP2) in Yakuts, Russians, and Evenks, as well as their relationship to body mass index (BMI). The study included 776 volunteers from the Republic of Sakha (Yakutia): There are 211 Russians, 140 Evenks and 425 Yakuts. The participants had no chronic diseases. Based on body mass index (BMI), participants were divided into three groups: normal BMI (18.5–24.9 kg/m2), pre-obese (25-29.9 kg/m2) and obese (≥30 kg/m2). The study of polymorphisms rs174537 of the enhancer genes FADS1, FADS2, rs1137101 of the LEPR gene and rs1799883 of the FABP2 gene in populations of Russians (n=211), Evenks (n=140) and Yakuts (n=425) revealed significant population-specific differences.

In the present article, the dynamics of blood lipid peroxidation (LPO) markers and the antioxidant system (AOS) are investigated in patients with lung adenocarcinoma (LA) at different disease stages (I–IV). The study included 40 patients with histologically verified LA and 40 healthy donors. In blood serum, the concentrations of malondialdehyde (MDA), diene conjugates (DC), triene conjugates (TC), and Schiff bases (SB) were determined. In erythrocyte hemolysates, the activity of glutathione peroxidase (GPx), glutathione reductase (GR), glutathione S-transferase (GST), and the level of reduced glutathione (GSH) were measured. In LA patients, a pronounced increase in LPO markers (MDA, DC, SB) and a decrease in GPx activity and GSH levels were revealed compared with the control group. A stage-dependent pattern was established: MDA levels were highest at stage I (a 3.4-fold increase), followed by a decline by stage IV. The concentration of DC (a primary LPO product) was elevated at the early stages, whereas secondary and terminal products (TC and SB) showed a progressive increase from stage I to stage IV (SB exceeding control values by 30.7-fold at stage IV). GPx activity was reduced at all stages, and GSH levels remained consistently decreased. GR activity exhibited a non-linear pattern. The development of lung adenocarcinoma is accompanied by a profound imbalance in pro-/antioxidant homeostasis, manifested by enhanced LPO and depletion of antioxidant defenses. A specific stage-related dynamics of LPO markers is demonstrated: a marked rise in primary and secondary products at early stages, followed by a shift in the marker profile at advanced stages. The antioxidant system displays a phased response, with signs of partial compensation at stage III and decompensation at stage IV of the disease.

The use of stem cells in osteoplasty of jaw defects is one of the most promising areas of modern cellular engineering regenerative medicine. Traditional osteoplasty methods have a number of limitations, from the risk of infections and pain to the limited amount of available graft. In this regard, stem cells open up new possibilities for creating biologically active structures capable of stimulating osteogenesis and restoring complex structures of the maxillofacial region. The review systematizes current data on the use of periodontal ligament (PDLSC), dental pulp (DPSC) and jawbone (JBMSC) stem cells in osteoplasty of jaw defects. Their morphological and molecular characteristics, osteogenic potential, interaction with the microenvironment of the defect, as well as integration with biomaterials and growth factors are considered. Special attention is paid to the results of preclinical and clinical studies confirming the safety and effectiveness of cellular therapies aimed at restoring the cement–periodontal ligament–bone complex and improving the osseointegration of implants. In addition, the work analyzes existing preclinical models of jawbone defects in small and large animals, providing an experimental basis for evaluating the effectiveness of cellular engineering structures and developing safe protocols for clinical use. The importance of DPSC and JBMSC exosomes as biologically active factors enhancing osteogenic differentiation and tissue regeneration is noted. The obtained data emphasize the high prospects of using stem cells from the oral cavity for bone tissue regeneration, the development of new biocompatible materials and individualized therapeutic strategies. The presented review can serve as a scientific basis for creating effective, safe and clinically justified approaches to the treatment of maxillofacial defects and improving the results of implantation therapy.

This paper presents a comprehensive analysis of the effects of radiation and combined exposure on the structure and properties of bone tissue, with a particular emphasis on changes in the collagen matrix. A mathematical model has been developed describing changes in interfibrillar distances in collagen, enabling a quantitative relationship between the radiation dose and the level of protein matrix degradation. It was found that combined sterilization allows reducing the radiation dose to 12 kGy, while maintaining the structural integrity of collagen and the mechanical properties of bone material. A model of collagen degradation under the influence of radiation is proposed, linking the dose load with a change in intermolecular distances; a quantitative correlation between the parameters Δr (according to the model) and structural changes in collagen was established; the possibility of reducing the radiation dose while maintaining the sterilizing effect through ozone pretreatment has been experimentally demonstrated.

This systematic review evaluates the effectiveness of the subvastus approach (SVA) in primary total knee arthroplasty compared to the medial parapatellar approach (MPA). The analysis includes 15 studies with a sample size exceeding 10,000 patients. The SVA demonstrated significant advantages in the early postoperative period: reduced pain syndrome, accelerated recovery of extension function, improved range of motion, and higher functional scores. A reduction in intraoperative blood loss was noted, although operative duration may increase. In the long-term period, differences between methods become negligible. The SVA demonstrates safety comparable to MPA without increasing complication risks. When combined with enhanced recovery protocols, this method facilitates early mobilization and reduces hospitalization duration.

The article is devoted to topical issues of the complexity of the diagnosis of a rare pathology – Kazabach-Merritt syndrome in infants. Against the background of progressive bilateral polysegmental pneumonia, the child retained thrombocytopenia and consumptive coagulopathy. Syndrome-by-syndrome treatment was performed in the intensive care units of the perinatal and pediatric centers of the republican hospital. The patient received a large amount of blood replacement therapy, and the pleural and abdominal cavities were repeatedly drained. In this clinical case, there were no external manifestations of the disease in the form of a tumor on the skin. Initially, the formation was not diagnosed on early CT scans. Kaposiform hemangioendothelioma complicated by Kasabach-Merritt syndrome was suspected by the exclusion method, which was confirmed at the Federal Center. Properly prescribed complex chemotherapy led to an improvement in the baby's condition. In clinical practice, there are often situations where the symptoms of the disease can be masked by other conditions, such as infectious processes or other hemorrhagic disorders. This highlights the importance of a multidisciplinary approach in the diagnosis and treatment of this disease.

This article presents the results of a study aimed at developing a training methodology based on steady, continuous long-distance running to restore the physical fitness and performance of wounded Airborne troops. This methodology aims to facilitate their rapid return to the combat zone and to scientifically substantiate its effectiveness. A three-week training program was developed, including warm-up, base, and warm-up microcycles aimed at gradually increasing the volume and intensity of running loads, developing overall endurance, speed, and sensory abilities. A distinctive feature of the program is the individualization of the training process based on monitoring heart rate variability. The effectiveness of the developed program was experimentally proven, as evidenced by statistically significant improvements in the morphofunctional indicators of physical performance and physical fitness of the experimental group.

Analysis of heart rate variability dynamics demonstrated the program's ability to ensure an optimal level of adaptive capacity and prevent the development of regulatory system overstrain.

A method for evaluating the qualification of medical specialists (endocrinologists, obstetricians-gynecologists, physicians-therapists) based on the analysis of risk factors arising in the management of pregnant women with carbohydrate metabolism disorders has been developed. As part of the pilot testing of the method in September-November 2024, quantitative sociological research, online survey (author's questionnaire) of 140 doctors of the above specialties from different subjects of the Russian Federation (Arkhangelsk, Vladimir, Volgograd, Kaliningrad, Kostroma, Lipetsk, Moscow, Nizhny Novgorod, Tula, Ryazan regions, Moscow, Altai and Stavropol Krai, Republics: Adygea, Ingushetia, Karelia, Komi, Mordovia), analyzed survey data on the management of pregnant women with gestational diabetes mellitus and pregestational diabetes mellitus. The proposed approach can serve as a basis for a systematic approach to analyzing the professional potential of doctors of different profiles and diseases. Innovative aspects of the method are protected by patents.

The implementation in the Republic of Sakha (Yakutia) of a set of measures aimed at eliminating parenteral viral hepatitis and improving the provision of medical care to the adult population with oncological diseases has had a significant impact on the effectiveness of hepatocellular carcinoma diagnosis. Patients with advanced fibrosis and cirrhosis of the liver require special attention, as it is in this group of patients that the highest proportion of fatalities is observed, as well as the greatest burden on the healthcare system budget. The aim of the study was to evaluate the impact of an interdisciplinary approach on the etiological verification of the diagnosis and the effectiveness of HCC detection using the example of the Republic of Sakha (Yakutia). The article presents a retrospective analysis was conducted of data from 632 patients with HCC in the Republic of Sakha (Yakutia) who were examined and treated at the Yakutsk Republican Oncology Dispensary, and an analysis of the incidence rate based on official statistics before and after the introduction of the interdisciplinary approach. Due to improved screening, the proportion of patients with viral hepatitis markers increased 2.5 times and approached 70%. Clinical and laboratory diagnosis of liver cirrhosis improved, which is extremely important when choosing a treatment strategy for a patient. The rate of early diagnosis at stage I according to the TNM classification increased from 5.1% to 12.0% over 5 years. The increase in the proportion of patients with early-stage HCC opens up broad opportunities for the use of local tumor destruction methods and is expected to increase the overall survival of patients. It has been shown that an interdisciplinary approach reduces the time it takes to refer a patient from an infectious disease specialist to an oncologist and improves the quality of morphofunctional diagnosis of the liver. The experience of the Republic of Sakha (Yakutia) shows that improving dispensary observation of risk groups and continuity in patient management within the framework of interdisciplinary cooperation between specialists is a promising direction that can ensure early diagnosis of HCC and improve treatment outcomes.

Identifying donors with latent infection and a history of viral hepatitis, followed by their exclusion from donation, is one method for harvesting virus-safe blood components and, consequently, minimizing the risk of post-transfusion complications. To this end, an analysis of the results of a study on antibodies to the hepatitis B core antigen (anti-HBcore) was conducted in donors at the Sakha Republic (Yakutia) Blood Transfusion Center in 2021-2024. During the entire study period the overall detection rate of anti-HBcore was 26.3%, with no statistically significant gender-based difference (25.3% in men vs. 28.2% in women; p = 0.912). Donor age appeared to be one of the main factors influencing anti-HBcore prevalence: the lowest frequency of anti-HBcore was observed in the 21-30 age group – 3.8%, in the 41-50 age group – 58.8%, and in the group over 50 years – 41.0%. Based on the analysis of the obtained results, it is proposed to determine anti-HBcore with each donation for donors over 30-35 years of age.

The mining industry is one of the key industries for the economy of Russia and the Republic of Bashkortostan. However, despite its significant contribution to economic development, this sector is characterized by a high level of industrial injuries. In this article, we will consider the main causes of injuries, statistical data, and measures to reduce them.

According to statistics, the main causes of injuries in the mining industry are: violation of safety rules, faulty equipment, low level of production control, insufficient training of workers, poor working conditions, lack of personal and collective protective equipment, and the human factor.

Industrial injuries in the mining industry of Russia and the Republic of Bashkortostan remain a serious problem that requires attention from both employers and government agencies. Taking effective measures to improve working conditions, train workers, and monitor compliance with occupational safety standards can significantly reduce the number of accidents at work and improve overall safety in the industry.

Evaluation of the applicability of regression models to establish a relationship between drinking water quality (samples not corresponding to chemical indicators) and morbidity based on analysis of data from social-hygienic monitoring over 11 years (2013-2023) period in the Republic of Bashkortostan was conducted. Statistically significant relationships were identified between poor-quality water in terms of chemical indicators and the following diseases: angina pectoris, diseases of the circulatory system, and diseases of the musculoskeletal system. Further research with larger datasets, analysis of specific pollutants, and consideration of additional risk factors is needed to confirm these links. Enhanced monitoring of both the chemical composition of water and population morbidity is necessary for implementing targeted measures to improve the situation.

This study examined the incidence of the main herpesvirus infections (HVI) in the Irkutsk region for 2014-2024 with the results of monitoring for shingles since 2019. In the structure of HVI, the largest share is occupied by chickenpox (88.8%) and the smallest is cytomegalovirus infection with a share of less than one percent (0.4%). The dynamics of HVI incidence rates is unstable, with some upward trend in recent years. Children predominate among those affected, excluding shingles. Risk groups among the child population for the studied HVIs have been identified, which indicates the importance of preventive measures and monitoring of morbidity, primarily for these population groups. According to the forecast, the incidence of chickenpox (CP) and cytomegalovirus infection is expected to increase, therefore the importance of educational work to inform parents about the risks and symptoms of HCV, the role of vaccination in the fight against CP increases. Effective management and prevention of these infections can significantly reduce infectious diseases and improve the overall health of the region's population.

This study analyzes the social determinants of breast cancer (BC) among the female population of the Khabarovsk Krai. The relevance of the problem is determined by the complex influence of not only biomedical but also socioeconomic factors. An analysis of the studied cohort revealed a characteristic clinical and demographic profile, which includes a predominance of patients from older age groups and a burdened somatic history. The key conclusion of the work is that the effectiveness of measures to combat BC is significantly limited by structural, predominantly organizational, deficiencies within the healthcare system. Manifestations such as low accessibility and untimeliness of medical care, expressed in delays in diagnosis and treatment, as well as insufficient follow-up care, exacerbate the existing social inequality in healthcare provision in the region.

Сomparative assessment of the association of rs2010963, rs699947 and rs3025039 polymorphisms of the VEGFA gene with the risk of developing malignant neoplasms of the female reproductive system was conducted using a meta-analysis method. A systematic literature search of domestic and international databases identified 15 case-control studies. A significant increase in the risk of female reproductive system cancers was associated with the minor alleles of VEGFA polymorphisms rs2010963 (OR = 1.24; 95% CI: 1.09–1.41; p = 0.0008) and rs699947 (OR = 1.16; 95% CI: 1.04–1.28; p = 0.0058). No such association was identified for rs3025039. The analysis indicated substantial heterogeneity among the included studies. The results of the meta-analysis confirm the role of VEGFA gene polymorphisms in modulating the risk of female reproductive system cancer and indicate the need to consider ethnic and nosological characteristics in further research.

The article is devoted to the prospects for the treatment of neurodegenerative diseases with dynamic mutations based on published studies of the search for approaches to the treatment of spinocerebellar ataxia. Although these diseases are incurable, research results show that certain medications and physical therapy can alleviate the symptoms of cerebellar ataxia. Due to the progress made in the study of spinocerebellar ataxia in recent years, there are high hopes that it will be possible to develop gene therapy methods that will slow down the progression of the disease or even stop its development.

In order to study the clinical and morphological features of fibromatosis of the desmoid type, a literature review was conducted. It was found that fibromatosis of the desmoid type is a locally ag-gressive myofibroblastic tumor that occurs in muscular-aponeurotic structures. The clinical picture is affected by the localization of the tumor and its invasive growth into the surrounding tissues.

The complexity of diagnosis is due to the rarity and morphological similarity to soft tissue sarcomas. Immunohistochemical research is used to exclude malignancy. It was found that the features of fibromatosis of the desmoid type are characterized by pronounced diffuse nuclear expression of beta-catenin, reactions to DOG1, CD117, S-100 and SMA are negative.

This literature review analyses current scientific research that focuses on the impact of bilingualism and multilingualism on human cognitive functions. The focus is on the impact of two or more language experiences on executive functions such as inhibitory control, cognitive flexibility and working memory. The article examines the concept of «bilingual advantage» and the factors that modulate its manifestation, as well as the role of bilingualism in the formation of cognitive reserve.

The review article discusses some aspects of the use of anti-resorptive therapy to preserve bone microarchitecture and reduce the risk of fractures in patients with bone metastases. The authors conclude that there is currently no alternative to ART for the prevention of bone complications and the management of pain.

A study working women in Southern Yakutia to analyze obesity rates and their association with serum C-reactive protein levels and the prevalence of non-alcoholic fatty liver disease revealed that at least half of them are obese. Extreme obesity (class III) is typical for women nearing menopause. Body mass index, waist circumference, and hip circumference are closely correlated with serum C-reactive protein levels, the frequency of elevated C-reactive protein levels, and the incidence of non-alcoholic fatty liver disease. The frequencies of elevated C-reactive protein levels and non-alcoholic fatty liver disease show signs of a complete functional relationship. One-third of the study participants with normal body weight are likely at risk for developing non-alcoholic fatty liver disease and related diseases.

The article describes a clinical case of Kartagener syndrome in a 12-year-old patient. During the physical examination, changes in the fingers of the hands of the "drumstick" type and nail plates of the "watch glass" type were recorded. A decrease in spirometry indicators, dextrocardia, chronic bronchitis changes in the lungs were revealed. The number of points on the PICADAR scale is 13. The set of clinical, laboratory and instrumental data, assessment on the PICADAR scale, allowed to establish the diagnosis of primary ciliary dyskinesia: Kartagener syndrome.

The presented clinical case clearly demonstrates the problems of differential diagnosis of Kartagener syndrome. Increasing the alertness and awareness of doctors about this disease can help in rapid diagnosis, timely treatment and improving the quality of life of such patients.

The combination of two genetic syndromes in a single patient is a rare occurrence. This article describes a clinical case of a rare combination of two Mendelian diseases: spinocerebellar ataxia type I (SCA 1) and hypophosphatemic rickets in a single Yakut family. Given the low incidence of both diseases, this finding is of scientific and practical interest. The paper discusses a clinical observation of family members examined in 2012 and 2025. This clinical example is also relevant for practicing physicians. It is necessary to develop algorithms for monitoring complications of spinocerebellar ataxia and phosphate diabetes and to identify pathogenetic therapy.

Headache is one of the most common complaints in clinical practice. While primary headaches (such as tension-type headache and migraine) are the most prevalent, timely identification of secondary headaches is crucial, as they require a different diagnostic and therapeutic approach. This article presents a clinical case of a patient whose only manifestation of Paget’s disease of bone was headache. Based on elevated serum alkaline phosphatase levels, a more thorough examination was performed in a 47-year-old patient initially diagnosed with tension-type headache. MRI, CT of the brain, and bone scintigraphy allowed the diagnosis of Paget’s disease of bone to be established and pathogenetic therapy to be initiated.

This article presents a clinical case of a patient with newly diagnosed Frederick's syndrome, in this case persistent atrial fibrillation and complete trifascicular block, including proximal complete AV block, anterior hemiblock, and complete right bundle branch block. The possible mechanism of development of this condition and the treatment provided at Regional Clinical Hospital No. 1 in Tyumen, Russian Federation, are discussed.

This article presents a rare case of tuberous sclerosis with cardiac rhabdomyoma in a newborn. Rhabdomyoma is a benign tumor in the heart cavity, arising from embryonic muscle cells, and is frequently associated with tuberous sclerosis (TS), serving as its diagnostic marker. The disease was not detected prenatally. Postnatally, the infant was found to have a heart murmur; within days depigmented patches appeared all over the body, predominantly on the back, groin area, and legs. The diagnosis was established based on echocardiography. To determine further management tactics, a telemedicine consultation was conducted with the Federal Center for Cardiovascular Surgery in Khabarovsk, and the diagnosis was confirmed. Urgent planned surgical intervention was indicated.

The article presents a clinical case of lower extremity vein thrombosis in a 13-year-old child, which occurred against the background of postcoid syndrome. Onset of the disease acute fever up to 38 ⁰C, abdominal pain. Diagnostic laparoscopy performed in the central district hospital. Diagnosis: right ovarian apoplexy, cystic ovaries, adhesions, anemiya (hemoglobin - 75 g/l, dizziness, weakness). Prior to that autoimmune thyroiditis was diagnosed. On the 6th day after laparoscopy, fever up to 39,2 ⁰C, pain in the popliteal pits and lower legs appeared. Laboratory data showed an increase in all inflammatory markers (CRP, D-dimer, ferritin). Ultrasound imaging revealed occlusive thrombosis of the sural veins of both lower extremities. The patient received low molecular weight heparin, antucosgulants, aspirin, diclofenac as treatment. As a result of the adequately selected therapy, positive dynamics are noted.