Background. The problem of childhood obesity remains relevant for modern healthcare. Effective treatment models for this disease are needed with the inclusion of new therapeutic agents, including GLP-1 receptor agonists such as liraglutide (approved from the age of 12). However, its safety and efficacy in pediatrics have not yet been sufficiently studied and require further research.

The aim of the study is to evaluate the efficacy and safety of the GLP-1 receptor agonist liraglutide, a solution for subcutaneous administration in pediatric practice for body weight correction in children with obesity aged 12–15 years in combination with a personalized diet and increased physical activity.

Methods. The cohort study conducted on the basis of Children’s City Hospital No. 11 (Yekaterinburg) from March to October 2024 included children aged 12–15 years with an exogenously constitutional form of obesity (SDS BMI ≥ 2.0) with confirmed ineffectiveness of lifestyle correction for more than a year. The follow-up period was 24 weeks and included 9 visits. The main criterion of effectiveness is the change in SDS BMI by the 24th week. Safety was assessed by the frequency and severity of adverse events, as well as by the effect on linear growth.

Results. The children of the study groups were comparable in all characteristics (p > 0.05). The main group was prescribed liraglutide — an analog of GLP-1— at a dose of 3.0 mg subcutaneously daily. During the first month, the dose was titrated to the maximum according to the instructions, then the drug was used for another 20 weeks. At week 24, a significant decrease in SDS BMI was recorded in the main group compared with the control (therapeutic effect): –0.343 (95% CI: –0.501 to –0.185), p < 0.001.

Conclusion. The results obtained confirm the potential of usage of the liraglutide as part of complex therapy in adolescents with obesity and substantiate the expediency of its further study in pediatric practice.

Background. Juvenile scleroderma is an autoimmune disease of connective tissue in children of different ages. Currently, there is no structured information about the course of this disease in children of The Samara Region, which makes it difficult to regularly monitor and timely correct the treatment of the disease.

The aim of the study is to create a regional registry, as well as to conduct a clinical and epidemiological analysis of scleroderma in children in the Samara region for 2018–2023. Methods. A single-stage retrospective study was conducted in the period from 2018 to 2023, which included 75 patients treated at the V.P. Polyakov Samara Regional Clinical Cardiology Dispensary, in the Department of Pediatric Cardiac Surgery and Cardiorheumatology with a diagnosis of scleroderma.

Results. There has been a 1.3-fold increase in the prevalence of juvenile scleroderma among children (0–17 years old) over the period 2018–2023. In 13% of cases, patients were misdiagnosed, which is probably due to the diversity and non-specificity of the clinical picture of juvenile scleroderma. According to the results of the study, a long diagnostic search can be noted — it took more than two years for 17.3% to make a correct diagnosis, which is most likely due to the lack of an interdisciplinary approach to the management of juvenile scleroderma, as well as the late treatment of parents by a doctor. The complicated course of systemic scleroderma occurred in 1.3% of cases and was characterized by vascular disorders such as nail osteolysis of the distal phalanges, which was associated with an erroneous diagnosis at the outpatient stage and a delayed referral to a rheumatologist.

Conclusion. The conducted research allows us to conclude that it is advisable to create a local registry of children with scleroderma, the analysis of which will help pediatricians and rheumatologists of both outpatient and inpatient levels to respond in time to existing deviations in the diagnosis and therapy of scleroderma and optimize approaches to the management of patients with this profile. The limitation of the presented study is the small number of children (n = 75). It can also be assumed that the study did not include all children in the region suffering from scleroderma, given the lack of a registry, which makes it much more difficult to assess the course of the disease.

Celiac disease and eating disorders are complex chronic diseases characterized by weight changes, malnutrition, and gastrointestinal symptoms. Celiac disease patients are treated by following a strict gluten-free diet, which may inadvertently contribute to eating disorders. Conversely, eating disorders can mask and aggravate the clinical manifestations of celiac disease, which leads to a prolongation of the diagnosis of the disease and problems with the treatment of such patients. The available data indicate an increased risk of developing eating disorders in patients with celiac disease and vice versa, suggesting a potential bidirectional relationship between these diseases. This review examines the mechanisms and clinical consequences of the interaction between celiac disease and eating disorders, and suggests strategies for comprehensive screening and treatment to improve the quality of life of patients with both conditions.

The literature review summarizes the results of a long-term experimental study of the pathogenesis of retinopathy of prematurity in a rat model conducted at the National Medical Research Center for Eye Diseases named after Helmholtz, as well as data from foreign authors who are the basis for finding ways to prevent the development of this disease with medication.

The authors present modern epidemiological data and features of the etiopathogenesis of metabolically associated fatty liver disease in children (non-alcoholic fatty liver disease), and provide clinical characteristics of various variants of this nosology. Information is provided on laboratory, instrumental and morphological signs of metabolically associated fatty liver disease in children, as well as on methods of prevention, treatment and rehabilitation in accordance with developed clinical guidelines.

Acute tonsillitis and pharyngitis are common infectious diseases of upper respiratory tract causing significant discomfort and various complications in patients. This article covers all the issues of tonsillitis and pharyngitis etiology, pathogenesis, classification. Modern clinical guidelines focus on optimizing the diagnosis, management, and prevention of these conditions, ensuring high quality of medical care.

Centor, McIsaac, or FeverPAIN scores can be used for differential diagnosis of viral and streptococcal tonsillopharyngitis. Particular attention is given to the management tactics of patients with these diseases, including the antibiotic therapy for streptococcal tonsillitis. Modern clinical guidelines emphasize the need for individual approach for every patient considering their age, concomitant diseases, and infection course aspects. These guidelines implementation in practice can increase the treatment efficacy, reduce the risk of any complications, and improve the quality of life of patients with acute tonsillitis and pharyngitis.

Background. Glycogen Storage Disease Type Ib (GSDIb) is an inherited autosomal recessive orphan disease associated with a deficiency of the glucose—6-phosphate translocase transport protein and leading to excessive accumulation of glycogen in the liver and other organs. GSDIb occurs in about 20% of patients with type I glycogenosis and is characterized by a variety of manifestations, which makes diagnosis difficult.

Case report: A clinical example of early diagnosis of GSDIb in a 5-month-old boy with a burdened perinatal history is presented. The disease was suspected due to the presence of persistent neutropenia and hypoglycemia in the child, as well as recurrent bacterial infections. Whole-exome sequencing was performed, on the basis of which the diagnosis was made: “GSDIb caused by variants in the SLC37A4 gene: c.1108_1109delCT p.Leu370fs and c.85A>G p.Lys29Glu in a compound heterozygous state”.

Conclusion. The presented case report highlights the need for early diagnosis of GSDIb. This will allow timely initiation of specific therapy and improve the prognosis for patients with this disease.

Background. Rett syndrome is a rare neuropsychiatric disorder associated with sporadic mutations in the X-linked methyl-CpG binding protein 2 (MECP2) gene. Considering the cruciality of early diagnosis, the necessity of multidisciplinary approach in the management and support of such children, the study of Rett syndrome clinical cases is essential to raise awareness and improve the patients and their families’ quality of life.

Clinical case description. This article describes the clinical picture of Rett syndrome in girl P., born from second natural delivery at the 40th week of gestation, weight at birth – 3200 g. There were no deviations in psychomotor skills development before disease onset. However, classic manifestations have appeared by the age of two: alalia, motor stereotypy, equinus gait, bruxism, communication via sight. The Rett syndrome was confirmed via molecular genetic study: mutation in the X-linked methyl-CpG binding protein 2 (MECP2) gene was revealed.

Conclusion. This clinical case demonstrates the importance to inform doctors about timely disease detection and multidisciplinary approach to its diagnosis and management. The use of DNA screening for early disease detection greatly improves the chances of effective treatment and rehabilitation.

Background. Tuberculosis in tender-age infants remains a serious and urgent problem due to the immaturity of the immune system, the lack of a specific clinical picture in the early stages of infection, difficulties in the differential diagnosis of X-ray signs of the disease and anatomical and physiological characteristics of the body. It is important that children from the group of close bacillary contact have a higher risk of developing the disease during the first years of life, especially in the absence of preventive treatment and dynamic monitoring.

Case report. A case report of combined tuberculosis of the larynx and lungs in a child born to a mother with tuberculosis and who did not receive preventive therapy is presented. During the first year of life, the patient was repeatedly treated in the infectious diseases department of the city hospital with the diagnosis: “Sublingular laryngitis, laryngeal stenosis” — without improvement. Based on the ineffectiveness of the treatment and the deterioration of the patient’s condition, a chest examination was performed. Laryngeal microlaryngoscopy was performed, Mycobacterium tuberculosis complex DNA was detected in the biopsy materials by polymerase chain reaction. According to the conducted studies, at the age of 1 year and 3 months, a diagnosis was made: “Tuberculosis of multiple localizations: miliary tuberculosis of the lungs. Tuberculosis of the intrathoracic lymph nodes of all groups on the left, paratracheal group on the right, bifurcation group, infiltration phase with calcification elements. Tuberculosis of the larynx. Without isolation of Mycobacterium tuberculosis”. A full course of anti-tuberculosis therapy was performed.

Conclusion. The presented case report clearly showed the lack of preventive antituberculosis measures, which led to infection and subsequent late diagnosis of widespread tuberculosis in a tender-age infant.

Background. Hemorrhagic vasculitis, related to dermal vasculitis and manifested by non-specific inflammation of blood vessels walls (of different caliber) due to immune complexes deposition in perivascular tissue, is the most common systemic vasculitis in children.

Clinical case description. Clinical case (in a 13-year-old boy) of hemorrhagic vasculitis with laboratory unknown etiology, with no classical onset and anamnesis typical for this pathology is presented.

Conclusion. The specific feature of the presented clinical case is atypical manifestation of skin syndrome at the disease onset emphasizing the importance of hemorrhagic vasculitis timely diagnosis.

Background. Mitochondrial myopathy caused by mutations in the gene encoding the mitochondrial enzyme thymidine kinase-2, located on chromosome 16 at locus 16q21 (hereinafter TK2-associated mitochondrial myopathy, OMIM: #609560), is a rare autosomal recessive genetic pathology characterized by impaired replication of mitochondrial deoxyribonucleic acid (mtDNA) with the development of the range of clinical manifestations, with the leading myopathic syndrome. Early diagnosis of the disease is important because there is a pathogenetic treatment in the form of the use of specialized foods containing deoxynucleosides.

Case report. The article presents the clinical features of the infantile form of TK2-associated mitochondrial myopathy in a 7.5-month-old girl. This girl M. is being observed at the Children’s Municipal Clinical Hospital № 1 in Nizhny Novgorod. The child was born from the fourth pregnancy and the third home birth. The girl was not observed by medical specialists for up to 2 months. The girl’s psychomotor development corresponded to age standards up to the age of 5 months. The disease debuted at 5 months of age with breastfeeding disorders, weight loss, muscle weakness, and loss of age-related skills. The patient was hospitalized at the age of 7.5 months in a severe condition: adynamia, areflexia, atony, ophthalmoparesis, partial ptosis, clinic of bulbar and pseudobulbar syndromes, hepatosplenomegaly, no psychomotor skills. The examination revealed syndromes such as severe cytolysis and rhabdomyolysis, transient hyperlactatemia, cardiomyopathy, and signs of cerebral cortex atrophy. The diagnosis of TK2-associated mitochondrial myopathy was confirmed by a molecular genetic study. Two pathogenic mutations in the compound heterozygous state were identified in exons 2 and 6 of the TK2 gene (c.144_145delGA, p.(Lys50IlefsTer99) and c.416C>T, p.(Ala139Val), respectively) associated with this disease. The mutations were validated using Sanger “trio” sequencing. The child was prescribed a specialized diet with a high content of deoxynucleosides (thymidine, deoxycytidine) at the age of 8 months, against which background the condition stabilization was noted.

Conclusion. The delayed disease diagnosis due to the late parents’ appeal for medical help from the moment of the disease onset with the belated appointment of pathogenetic therapy as the result, makes this clinical case special. The patient is prescribed lifelong use of a specialized diet. Due to the high probability of developing respiratory disorders the prognosis for this disease is doubtful. Pediatricians need to be vigilant in early detection of orphan pathology terms in the presence of “floppy infant syndrome“.