Rapid progress in genetic research and the subsequent emergence of diverse gene therapy for hereditary neuromuscular diseases lead to the need to create specialized clinics or beds in neurological hospitals. The physicians in this area of medical practice are required to have deep knowledge of this extremely extensive group of diseases (more than 1,100 diseases) and, accordingly, a narrow specialization in the field of myology. An additional problem is the polysystemic nature of the neuromuscular diseases and the need for diagnostics and management by a team of different specialists (neurologists, geneticists, cardiologists, orthopedists, palliative medicine specialists, etc.), which is only possible in a multidisciplinary clinic. An outstanding achievement is the provision of gene therapy to all children with spinal muscular atrophy and a significant portion of patients with Duchenne muscular dystrophy in the Russian Federation, thanks to the “Circle of Goodness” charity foundation and the introduction of neonatal screening for spinal muscular atrophy. At the same time, this poses new challenges for doctors that need to be addressed. The article describes the problems of choosing drugs for gene therapy, assessing their effectiveness, the high expectations among parents of symptomatic patients with neuromuscular diseases receiving gene therapy, the need to create national registries that include an assessment of the effectiveness of therapy. A separate scientific problem is the change in the phenotype of spinal muscular atrophy and Duchenne muscular dystrophy on gene therapy, which requires long-term study and may lead to a change in the standards of patient management.

Hyponatremia and hypernatremia are common conditions that are often found in newborns and have a significant impact on their health and mortality. This article presents a review of the scientific literature on the features of sodium homeostasis, risk factors and clinical manifestations of its impairment in the neo-natal period. The review examines current approaches to identifying the causes that contribute to the development of these conditions, and analyzes how changes in sodium levels affect the health and mortality rates of newborns. At birth, there is a decrease in the volume of extracellular fluid and a loss of sodium, which is part of the process of adaptation of water-electrolyte metabolism. Sodium imbalance is especially common in newborns with extremely low body weight due to immaturity of the kidneys. This can manifest as early hypernatremia or late hyponatremia. Severe neonatal hyponatremia is a critical electrolyte imbalance that can lead to serious neurological consequences. Hypernatremic dehydration, which can also occur in full-term newborns with weight loss, is also associated with serious complications and can be fatal if not diagnosed in time. Increased sodium intake is a risk factor for intraventricular hemorrhage in very low birth weight infants. Therefore, constant monitoring of sodium levels in the neonatal period is of paramount importance for the timely detection and correction of disorders associated with its content.

Megaureter is one of the most common pathologies of the upper urinary tract, which is dangerous in childhood due to possible complications such as chronic urinary tract infections with the outcome of chronic kidney disease. Currently, the international classification based on the totality of excretory urography, voiding cystography, urethrocystoscopy and urodynamics data, which includes 4 groups of megaureters: reflux, obstructive, non-reflux and non-obstructive, as well as vesicular megaureter, has received the greatest relevance for the differentiation of megaureter. Clinically, this pathology can occur in 2 periods — aseptic and infectious. The doctor should be alerted to complaints of abdominal pain unrelated to eating and defecation, abdominal asymmetry, episodes of fever, profuse sweating, a history of recurrent urinary tract infections, and lag in physical development. A number of standard and special laboratory and instrumental studies are used to diagnose the megaureter. The introduction of antenatal ultrasound diagnostics of the urinary system organs into practice has increased the chance of detecting a megaureter in the prenatal period. Treatment of a megaureter depends on its cause and the degree of enlargement and tortuosity of the ureter. Both operative and conservative methods of megaureter correction are used. If conservative tactics are futile, endoscopic correction of the ureteral orifice, dissection of the orifice, ureteral stenting, and balloon dilation are used, depending on the cause. In the absence of the effect of these methods, neoimplantation of the ureter into the bladder is used. Conservative treatment includes drug therapy and physiotherapy methods of treatment in conjunction with physical therapy. In case of an existing urinary tract infection, it is advisable to prescribe antibacterial therapy.

Despite significant advances in modern neonatology, neonatal sepsis remains the main factor in mortality, severe complications, and disability in children. The success of treatment of such children largely depends on timely and adequate antibacterial therapy based on knowledge of the etiology of the disease.

Objective. To determine the features of the modern etiological structure of sepsis in extremely premature infants to improve the effectiveness of their treatment.

Material and methods. The study of the etiology of sepsis was carried out in 24 premature infants with a birth weight of 980 to 1490 g and a gestational age of 26 to 31 weeks. Sowing of biological material (blood, feces and discharge from foci of infection), as well as determination of the sensitivity of pathogens to antibiotics were carried out using generally accepted methods.

Results. Blood cultures were positive in the vast majority of infants. Blood cultures predominantly yielded gram-positive cocci (Staphylococcus epidermidis, Staphylococcus aureus, Enterococcus faecalis, group B Streptococcus), less commonly gram-negative bacteria (Enterobacteriaceae, Pseudomonas aeruginosa, and Neisseria meningitidis), Candida albicans, and intracellular microorganisms: Mycoplasma hominis, Ureaplasma urealyticum, and Chlamidia trachomatis. Most infants had monoinfection. Blood culture associations were detected as combinations of bacteria and/or intracellular microorganisms. Local foci of infection predominantly yielded the same microorganisms as those found in the blood. Most strains of bacterial pathogens were multiresistant to antibiotics.

Conclusion. The etiology of sepsis in extremely premature infants is represented by a wide range of microorganisms with a predominance of gram-positive bacteria and pathogens of intrauterine infection — intracellular pathogens. Blood and biomaterial cultures from infection foci to isolate pathogens causing neonatal sepsis will help determine the choice of antibacterial therapy at all stages of treatment, especially when prescribed early.

Myocardial diseases take a significant place in the world of the modern science and practical medicine, which is confirmed by a large number of publications. Despite the fact that the problems of myocarditis and cardiomyopathies have been studied for many years, there are still gaps in the diagnosis and management of these conditions, especially in cases of their co-existence. The mechanisms of mutual influence of these nosologies are also insufficiently studied. In particular that clinical situation in young patients is a specific problem.

Objective. To evaluate the features of the clinical course and outcome of genetically determined cardiomyopathies in association with myocarditis in children.

Materials and methods. The study is retrospective. The case histories of 17 pediatric patients with severe cardiomyopathies with the development of terminal heart failure were analyzed. 8 (47.0%) patients (3 boys and 5 girls) had a combination of genetically determined cardiomyopathy and confirmed myocarditis. All patients underwent an assessment of their medical history, laboratory parameters and results of instrumental examination methods.

Results. 7 (87.5%) patients out of 8 children with a combination of cardiomyopathy and myocarditis underwent orthotopic heart transplantation on average 7 years after the onset of the first symptoms of the disease. Of these, 2 (28.5%) children had auxiliary blood circulation systems installed as a “bridge to the heart transplantation” — LVAD in one case and ECMO with subsequent implantation of the Excor system in the other case. In one case, there was a fatal outcome (12.5%) due to the development of a refractory polymorphic ventricular tachycardia.

Conclusion. This work demonstrates the need for additional vigilance and more active actions in relation to the management of patients with atypical, severe myocarditis, as well as in the case of rapid progression of genetically determined cardiomyopathy.

Long-term tonic disorders in children with cerebral palsy can cause serious deformities of the limbs and spine, causing pain, limiting motor activity and maintenance of patients who are unable to move independently. The purpose of this study was to improve the results of orthopedic surgical treatment of neurogenic deformities of limbs and spine in children with cerebral palsy by performing orthopedic surgical interventions on the musculoskeletal system.

Materials and methods. The results of orthopedic and surgical treatment of 89 patients with cerebral palsy aged 4 to 18 years who were undergoing inpatient treatment at the V.F. Voyno-Yasenetsky Scientific and Practical Center of Specialized Medical Care for Children in 2022–2024 were analyzed. The effectiveness of the treatment was assessed based on the results of a survey of the patients’ parents using the Gillette questionnaire.

Results. The surgical treatment made it possible to eliminate contractures of the hip, knee, and ankle joints, restore congruence in the hip joints, and correct foot deformities. As a result of the treatment, the average correction of scoliotic deformity was 63%, and the correction of pelvic misalignment reached 55%. In the period from 12 to 24 months after the surgical intervention, according to the questionnaire, an increase in the volume of movements in the joints, an improvement in the balance of the trunk, appearance, easier transportation, improved self-care, improved respiratory function, and a decrease in pain were revealed.

Conclusion. The results of treatment are manifested by improvements in the social adaptation of patients, the emergence of opportunities forself-care, verticalization and mobility of patients in a wheelchair, as well as easier care for patients who are unable to move independently.

In recent years the choice ofsurgical interventions on the pharyngeal lymphoepithelial ring has followed the path ofrejecting excessive radicalism. This is especially important when treating children with obstructive sleep apnea syndrome.

The aim of the study was to compare changes in the content of inflammatory markers in saliva after adenotonsillotomy and adenotonsillectomy in children.

Material and methods. The study included 28 children who underwent surgery for lymphatic ring of the pharynx. The patients were divided into 2 groups: group 1 included 14 children who underwent adenotonsillotomy, group 2 — 14 children who underwent adenotonsillectomy. The content of the studied cytokines (tumor necrosis factor, interleukins 1 and 6) was determined in saliva by enzyme immunoassay before surgery and 48 hours after the operation.

Results. The content of IL-6 in saliva after surgery significantly increases regardless the type of procedures, but this increase is significantly more pronounced in children after adenotonsillectomy. Conclusion. Changes in the content of the pro-inflammatory cytokine Il-6 in saliva indicate that adenotonsillotomy is a less invasive surgical procedure than adenotonsillectomy.

The objective was to investigate the possible influence of emotional stress on the risk of hypertension and to evaluate its interaction with other risk factors in obese adolescents.

Material and methods. One hundred adolescents aged 12–17 years (mean age 13.9±2.2 years, 53 boys, 47 girls) with diagnosed constitutional-exogenous obesity (ICD-10 code: E66.0) were examined. The examination included the identification of arterial hypertension (AH) in accordance with accepted criteria. Adolescents were asked to fill out the Adolescent Stress Questionnaire (ASQ), designed to identify potential stressors and the level ofstress in various areas of the adolescent’s life and overall.

Results. Hypertension was diagnosed in 18% of adolescents, and as the degree of obesity increased, the frequency of hypertension statistically significantly increased. The maximum manifestations ofstress in adolescents were associated with attending school, peer pressure, and uncertainty about the future. Hierarchical logistic regression analysis revealed that the body mass index z-score at the time of examination, the overall severity of stress, and the age of patients at the time of examination had significant independent influences on the risk of hypertension, with the risk of hypertension increasing with higher values of these indicators. No significant association was found between the risk of hypertension and the gender of adolescents, the age of onset of excessive weight gain, and weight gain over the past year.

Conclusions. Emotional stress in adolescents with obesity is an independent additional risk factor for the development of hypertension. Psychological diagnosis and stress management should be one of the aspects ofreducing the risk of hypertension in adolescents with obesity.

Malignant diseases in children are among the leading causes of death in the 0–14 age group. While five-year survival rates exceed 80% in high-income countries, these indicators remain significantly lower in countries with limited resources.

Objective: to assess the incidence and survival of children aged 0 to 14 years diagnosed with malignant diseases in the Republic of Uzbekistan from 2017 to 2023.

Materials and Methods. A retrospective observational study was conducted using data from a specialized national pediatric cancer registry. The study included newly diagnosed cases in children who were citizens of Uzbekistan. In Tashkent and Tashkent Region, active case monitoring was implemented, while in other regions, case registration relied on spontaneous reports from local clinics.

Results. A total of 3909 cases were registered. The overall incidence was 5.6 per 100,000 children, with an age-standardized incidence rate of 5.62. Leukemias accounted for 55% of all cases, while central nervous system tumors were less than 8%. The five-year overall survival rate was 37%, and the event-free survival rate was 39%. Incidence and survival rates were significantly higher in Tashkent and Tashkent Region compared to other regions.

Conclusions. The findings suggest substantial underreporting of cases outside the capital. There is a critical need for active surveillance, improved early diagnosis, and greater access to specialized pediatric oncology care throughout the country.

Barakat syndrome is a rare autosomal dominant genetic disease characterized by a triad of symptoms: hypoparathyroidism, sensorineural hearing loss and kidney dysplasia. The disease is associated with a mutation in the GATA3 gene located on the short arm of chromosome 10 (10p15), which leads to impaired embryonic development of the parathyroid glands, auditory system and kidneys. The article presents a clinical case of a patient with Barakat syndrome, in whom, in addition to the main clinical manifestations, unilateral ptosis was also detected. After birth, the boy showed signs of acute renal damage and hypocalcemia, which required intensive therapy and correction of electrolyte disorders. The uniqueness of this case lies in the presence of a previously undescribed mutation in the GATA3 gene, as well as in the diagnosis of the disease at the age of 6 months. In order to diagnose Barakat syndrome early, a multidisciplinary approach is important, and timely treatment significantly improves the condition of patients.

The literature review focuses on iron deficiency anemia in young athletes is devoted. The main pathogenetic mechanisms of anemia’s development in athletes and differences in the main causes of its formation in athletes and in the population are demonstrated. The regulation mechanism of iron metabolism in the body, the effect of intensive physical load on this process are covered in detail, the effect of endogenous and exogenous iron on the level of physical performance is described. It describes the relationship between the nature of nutrition of athletes, sports specialization and the nature of training loads with the likelihood of developing anemia. A clinical example with the development of iron deficiency anemia in a teenager engaged in sports against the background of concomitant pathology is given. The importance of iron level control and prevention of iron deficiency anemia in young people engaged in professional sports is presented.

Mucinous (mucus-producing) adenocarcinoma, also known as glandular lung cancer, is a malignant tumor that develops from the glandular epithelium of the bronchial wall. It is extremely rare in young individuals, virtually undetected before the age of 20. Due to the nonspecific symptoms of this pathology, there is often an extended diagnostic period, which in turn delays the initiation of treatment and significantly impacts the disease prognosis. This article describes a clinical case of a newly diagnosed mucinous invasive adenocarcinoma of the left lung in a 17-year-old female patient.

The article presents the possibilities of virtual diagnosis of a clinical case — a child with bone pain when walking and signs of rickets. The purpose of this work is to demonstrate the use of the case method for teaching the diagnosis of orphan diseases on a specific example. The authors have developed a web application that allows you to check the correctness of the actions of a trained doctor at each step of virtual diagnostics. The doctor must analyze the information provided about the patient, determine a plan for further examination, «refer» the patient for consultations with specialists and choose which diseases need to be differentiated. In the process of virtual diagnostics, questions are provided that allow you to assess the correctness of the choice of actions, to explain what the mistake is in case of an incorrect decision in a particular situation. As a result of passing the case, an integral score is calculated and displayed on the screen — the sum of points for correct answers. The ability to increase this score motivates the doctor to re-undergo virtual diagnostics, and most importantly, helps to consolidate the knowledge necessary for the correct diagnosis. Educational material is also provided: video presentations on various aspects of the identified disease, as well as an animated video on the molecular mechanisms underlying the pathogenesis. The knowledge control block includes questions on the training material, as well as graphic tests for the placement of information blocks, ranking and compliance. An interactive clinical case can be used in the process of training medical students and clinical residents as an additional tool, as well as for advanced training of pediatricians, nephrologists, endocrinologists and doctors of other specialties who may encounter this pathology in their practice. The developed Internet resource is posted on the Educational Portal of the Veltischev Institute https://edu.pedklin.ru.

Neonatal thyrotoxicosis is a rare life-threatening disease characterized by the development of hyperthyroidism symptoms in newborns. In most cases, neonatal thyrotoxicosis occurs in children of mothers with recurrent diffuse toxic goiter and high titers of antithyroid antibodies in pregnant women. In rare cases, it is associated with genetic variants in the GNAS and TSHR genes. This article is devoted to the main issues of diagnosis and treatment of neonatal thyrotoxicosis, a comparative description of the forms of the disease depending on the etiologic factor is given. The final part of the article presents a clinical observation of transient neonatal thyrotoxicosis in a child born to a mother with recurrent diffuse toxic goiter. The experience of observing a patient with neonatal thyrotoxicosis reflects the importance of early diagnosis and timely initiation of antithyroid therapy in neonatal thyrotoxicosis.