The article presents and discusses key issues in the biobanking system development in Russian pediatrics. Biobanking has already become an indispensable resource for new diagnostic and therapeutic technologies development in many areas of medicine. Numerous results of such activities, widely reflected in recent publications of leading scientific medical journals, prove that only a network of biobanks that meets modern requirements can ensure the development of pediatrics at all its stages: fundamental, translational and clinical. It is well understood that high-quality storage and use of biomaterial obtained from patients with congenital and hereditary diseases are of key importance for the development of precision pediatrics. However, even for diseases that are not included in this category, the study and registration of genetic factors that affect predisposition or modify the clinical manifestations of the diseases are necessary for the development of scientific pediatrics. And in this regard, the latter cannot do without competent biobanking. Unfortunately, genetic laboratories that diagnose congenital anomalies, hereditary diseases of the nervous system, etc. are functioning in the structure of only a small number of Russian multidisciplinary children’s hospitals focused on patients with complex comorbid pathology. At the same time, specialized biobanks exist only in a few of these centers. As one of them, the article provides an example of a biobank that is currently being integrated into the structure of the V.F. Voyno-Yasenetsky Scientific and Practical Center of Specialized Medical Care for Children of the Moscow City Health Department. The article also considers the main requirements for the organization of biobanks, for scientific research of the material stored in them, and for the presentation of the corresponding results in modern highly rated scientific publications.

The active introduction of fetal magnetic resonance imaging into clinical practice makes it possible to clarify the diagnosis and choose the optimal management of pregnancy, birth, and further treatment of patients with myelomeningocele. However, specific prognostic factors of the outcome of the disease detected during prenatal magnetic resonance imaging are not sufficiently covered in the literature. We analyzed the literature in PubMed and Google Scholar databases. As a result, we identified the main criteria and features that are important in predicting the outcome of fetal myelomeningocele.

Chronic kidney disease is the outcome of progressive chronic kidney diseases. Chronic kidney disease has a special social significance, affecting the quality of life and life expectancy and life expectancy. Early detection of children and adolescents with chronic kidney diseases and early stages of chronic kidney disease will not only slow down the progression, but also prevent the loss of kidney function. The article presents the main pathogenetic factors influencing the formation and progression of tubulointerstitial fibrosis — arterial hypertension with impaired general and local renal hemodynamics, proteinuria, ischemia, impaired normal functioning of the endothelial barrier, molecular genetic markers; the role of mast cells in the pathogenesis of renal fibrosis, nephrosclerosis.

Long QT syndrome caused by a mutation in the SCN5A gene is the third most common molecular genetic type of the syndrome. Cardiac events in long QT syndrome type 3 are associated with a high risk of death, and beta-blocker therapy is not effective enough. Given the impaired inactivation of the cardiomyocyte sodium channel due to variants in the SCN5A gene, sodium channel blockers have been proposed as gene-specific therapy.
The aim of this study was to evaluate the efficacy and safety of therapy with the sodium channel blocker lappaconitine hydrobromide in a cohort of children with type 3 long QT syndrome.
Materials and methods. The study included 16 patients from 11 unrelated families who received combination therapy with a betablocker and lappaconitine hydrobromide for 48±37 months.
Results. The main indication for the use of lappaconitine hydrobromide was a pronounced prolongation of the QT interval (in 81.25% of cases). The duration of the QTc interval significantly decreased after the administration of lappaconitine hydrobromide both according to the standard ECG (from 507±20.7 to 451±26.0 ms; p=0.000003) and during Holter monitoring (mean QTc from 536±16.2 to 489±24.9 ms; p=0.0002). No spontaneous arrhythmic events were noted during combined antiarrhythmic therapy.
Conclusion. The sodium channel blocker lappaconitine hydrobromide in patients with type 3 long QT syndrome affects such a risk factor for sudden cardiac death as the QTc interval by significantly reducing its duration. The drug can be recommended for use in addition to beta-blocker therapy for QTc ≥ 500 ms on a standard ECG or mean QTc during Holter monitoring in patients with type 3 of the syndrome.

The significance of autoimmune mechanisms in the pathogenesis of cardiac arrhythmias and conduction disorders in children remains poorly understood, the prognostic significance of changes of the prognostic significance antibodies level to different myocardial structures in children with bradyarrhythmias has not been fully determined. This study presents data from 105 children who underwent cardiological examination and analysis of anticardiac antibody levels. It was found that, that elevated and high levels of anticardiac antibodies are detected in 50% among children with bradyarrhythmias, the antibody titer to the cardiac conduction system 1:160 was registered in 22% of children, and 1:320 and higher — in 18% of children. Elevated and high titers of anticardiac antibodyies are associated with delay of the electrical systole of the ventricles and a tendency to decrease the contractility of the heart.

Objective. The aim was to evaluate specific T-cell and antibodies against SARS-CoV-2 in children hospitalized with respiratory infectious diseases.
Materials and methods. Examination of 121 children was carried out in 2021–2024. Among them 22% of patients were under 1 year of age, 33% — 1–3 years, 21% 4–6 years, 24% 7–14 years. In 51 children acute respiratory infection was concomitant with the course of pertussis. Diagnosis of acute respiratory viral infections was based on clinical data and on PCR testing of nasopharyngeal mucus including PCR testing for SARS-CoV-2. Using a method we developed, memory T cells specific to the SARS-CoV-2 S-glycoprotein were assessed in patients' blood. IgG- and IgM-antibodies to SARS-CoV-2 S-glycoprotein in blood serum were also tested.
Results. IgG antibodies to S-glycoprotein SARS-CoV-2 were detected in the blood of 55% of children in 2021, 65% in 2022, 82% in 2023, and 96% in 2024. T lymphocytes activated by stimulation with recombinant S-glycoprotein SARS-CoV-2 were detected in the blood of 25% of children in 2021, 70% in 2022 and 19–35% in 2023–2024. A significant (55%) frequency of serologic markers of transmitted undiagnosed COVID-19 was found in children under 3 years of age whose contacts, especially in 2021, were limited to family. In the groups of patients 3–14 years old, even more children were seropositive (95–100%). Memory T cells were found less frequently in children younger 3 years than after 3 years of age.
Conclusion. Examination of individuals with various respiratory diseases can clarify ideas about what part of the population has acquired immunity against SARS-CoV-2, as well as assess the role of memory T cells and antibodies to “ancestral” and current strains of SARS-CoV-2 in limiting morbidity.

Juvenile psoriatic arthritis is a chronic inflammatory disease of the peripheral joints, spinal joints and entheses, which occurs in 10–25% of patients with psoriasis. Studying the features of the juvenile psoriatic arthritis’s debut will increase early diagnosis and will help to avoid disability, socialize and integrate the child into society.
Objective. The purpose of the work is to identify the relationship between the variant of the articular syndrome of juvenile psoriatic arthritis at the onset of the disease and the provoking factor of the disease.
Material and methods. 155 patients with an established diagnosis of juvenile psoriatic arthritis were examined. To analyze the data, universal nonparametric (randomization-permutation) algorithms for constructing confidence intervals (CI) were used. Comparison of groups by binary and categorical features is performed using the exact Fisher criterion for tables 2×2 or the exact Fisher–Freeman– Holton criterion for tables r×c. The reliability was assessed (p<0.05) and by the nonparametric Mann–Whitney method (p<0.05).
Results. The relationship with the variant of the onset of articular syndrome with the provoking factor of the disease was revealed: in the rheumatoid-like variant, the proportion of patients with stress (p<0.005) acting as a trigger is higher; in spondyloarthritis, the proportion of the infectious factor is higher (p<0.005).
Conclusion. The relationship with the variant of the onset of articular syndrome with the provoking factor of the disease was revealed. Stress was the leading provoking factor in our patients, and the infectious factor was the second most common.

Biological therapy has been used for many years in the treatment of inflammatory bowel disease; however, the primary and secondary ineffectiveness, the need to select the next line of therapy, requires more research, especially in the pediatric cohort.
Objective: the present study aims to investigate the features of switching biological therapy (BT) in pediatric practice.
Materials and Methods: in this retrospective prospective study, included cases of children with ulcerative colitis and Crohn’s disease between 2018 and 2023. Demographic and clinical features of the disease, reasons for prescribing and switching BT, and 1st-line survival were studied. The efficacy of therapy was evaluated based on activity indices: PUCAI/ PCDAI, UCEIS/ SES-CD, IBD-DCA. Height-weight indices were evaluated using the standard deviation coefficient. Laboratory evaluation of a set of indices of general and biochemical blood tests were performed.
Results: out of 163 patients with IBD, 70 (43.9%) were receiving BT, the 1st line therapy groups included 42 (60%) with CD (group 1) and 17 (24.3%) with UC (group 2), the 2nd line groups included 7 (10%) with CD (group 3) and 4 (5.7%) with UC (group 4). There were no significant differences in clinical, endoscopic and morphologic activity levels between the groups. Lesion extent was significantly greater in the switching groups. The most frequent extraintestinal manifestation (EIM) was joint syndrome 51.4%. In 1st group, the leading reason for BT prescription 19 (45.2%) was the presence of EIM, and in the 2nd group, steroid dependence 8 (47.1%). The 1-line BT survival was 43.57 (30.21) months and 57.00 (54.00) months in 3d and 4th groups, respectively.
Conclusions: a high frequency of steroid dependence, steroid resistance and EIM was revealed, which entailed early prescription of BT. Given the peculiarities of the clinical picture and ineffectiveness of 1st-line BT in our cohort, a wide range of biologic agents were used off-label.

Ring chromosome formations are one of the rare genetic anomalies with a prevalence of 1:25,000 — 1:62,000 newborns. Ring chromosomes are formed as a result of sporadic terminal deletions of chromosomal arms, which then “stick together” and form a ring. In 1% of cases, ring chromosomes are inherited from parents. Chromosome 13 ring syndrome is a genetic disorder caused by an anomaly in chromosome 13. This syndrome is rare and is usually associated with a widely varying phenotype (from mild to severe). At the same time, the nature of clinical manifestations is associated with the length of the lost section of the chromosome and, as a result, the number of lost genes. The disease leads to a number of disorders: intrauterine growth retardation, short stature, moderate to severe moderate to severe intellectual disability, microcephaly, facial dysmorphic disorder, limb abnormalities and genital abnormalities. Additional signs have been reported, including behavioral problems, hearing and speech disorders, congenital heart defects, brain malformations, and anal atresia. The main diagnostic method is karyotyping, and the research material can be both amniotic fluid (prenatal diagnosis) and tissues of an already born child (postnatal diagnosis). The article, using a clinical case description as an example, examines the mechanisms of occurrence, main aspects of clinical manifestations, diagnosis, treatment and prognosis in a child with ring chromosome 13 syndrome.

Primary immunodeficiencies are a group of heterogeneous diseases caused by genetic deficiency of one or another component of the immune system. Due to the lack of focus of doctors on primary immunodeficiencies in patients and the phenotypic heterogeneity of nosologies included in this group, a high percentage of undiagnosed cases are determined. A genetic cause is detected only in about 30% of patients, and most of them do not have an obvious family history. Aicardi–Goutieres syndrome is a rare monogenic autoimmune disease that primarily affects the brain in children and is caused by mutations in one of the 9 genes responsible for nucleic acid metabolism and is accompanied by increased expression of interferon-stimulated genes (interferonopathy type I). In particular, in Aicardi–Goutieres syndrome type 6 (AGS6, OMIM 615010), a mutation in the ADAR gene (locus 1q21.3) leads to the recognition of unedited double-stranded RNA with the initiation of an interferon synthesis reaction. The article presents a clinical case of AGS6 syndrome, OMIM 615010, diagnosed posthumously in a 12-year-old boy.

This article presents a rare clinical case involving an infant diagnosed with a retropharyngeal abscess, which was exacerbated by posterior mediastinitis and a bacterial lung infection manifesting as a pulmonary-pleural condition. The specific diagnostic procedures and various treatments for these patients underscore the importance of an interdisciplinary approach to overcoming this condition. In this study, we provide a detailed account of how we successfully treated a patient using minimally invasive but meticulously planned surgical techniques and targeted antibacterial therapy, despite the presence of multiple sites of purulent infection.

Inflammatory bowel diseases, which include Crohn’s disease and ulcerative colitis, are systemic immunoinflammatory diseases. Among the extraintestinal manifestations of these diseases, musculoskeletal lesions with seronegative spondyloarthropathies are the most common.
The aim of the study was to evaluate the frequency and nature of joint lesions in patients with inflammatory bowel diseases observed at the Sechenov Centre for Maternity and Childhood in the period from 2017 to 2024.
Materials and Methods. The diagnoses of Crohn’s disease and ulcerative colitis were established in accordance with the clinical recommendations of the Union of Paediatricians of Russia. The classification criteria of the International Working Group on Ankylosing Spondylitis, 2011 and the Diagnostic Criteria for Juvenile Spondyloarthritis according to Garmisch–Partenkirchen, 1987 were used to verify the nature of joint damage. The prevalence of joint damage variants in the general group of children with inflammatory diseases of the intestine was analysed, as well as separately in groups with Crohn’s disease and ulcerative colitis.
Results. Of 175 children with inflammatory bowel disease, 77 (44%) had extraintestinal manifestations in the form of joint syndrome: 52 (68%) of them with Crohn’s disease and 25 (32%) with ulcerative colitis. Isolated arthralgias were noted in 7 of 77 children (9.1%). Of the 77 children, peripheral arthropathy in the form of oligoarthritis of large joints was noted in 64 (83.1%) patients, including 40 (62.5%) with Crohn’s disease and 24 (37.5%) with ulcerative colitis. Spondyloarthritis occurred in 6 (7.8%) children, in 5 children with Crohn’s disease and in 1 child with ulcerative colitis. Joint syndrome preceded intestinal manifestations of the disease in 40 (52%) of 77 patients with spondyloarthropathy.
Conclusions. The analysis of the prevalence of spondyloarthropathies in inflammatory bowel diseases in children showed its high frequency — 44%, significantly more often in Crohn’s disease. Among the patients with arthropathy associated with inflammatory bowel disease, the joint syndrome preceded the intestinal syndrome in 52% of cases. Peripheral oligoarthritis prevailed in 83.1% of our patients. Spondyloarthritis was detected in 7.8% of children, the vast majority of them with Crohn’s disease.