Margarita A. Soloshenko

Baricitinib, a selective Janus kinase 1 and Janus kinase 2 (JAK1/JAK2) inhibitor, was approved by the European Medicines Agency (EMA) in 2023 for the treatment of juvenile idiopathic arthritis (JIA) in children aged 2 years and older. Data on its use in routine clinical practice at Russian pediatric centers remain scarce. Objective: To retrospectively assess the effectiveness and safety of baricitinib in patients with JIA treated at a Russian rheumatology center. Materials and Methods: We conducted a retrospective cohort study at Morozov Children’s City Clinical Hospital. The safety analysis included 41 patients, and the effectiveness analysis included 40 patients. Follow-up lasted up to 12 months, with a median duration of 5.5 months. The primary endpoint was the change in the clinical Juvenile Arthritis Disease Activity Score based on 10 joints (cJADAS10) after 3 months of treatment (visit M3). Assessments were performed at baseline (T0) and at 3 (M3) and 6 (M6) months. Statistical analysis included nonparametric tests for paired comparisons with adjustment for multiple hypothesis testing; confidence intervals for proportions were calculated using the Wilson method. Results: The cohort included 29 girls (71%) and 12 boys (29%). The median age at treatment initiation was 11.9 years [6.2–16.1]; total follow-up was 16.0 patient-years, with a median of 5.5 months [3.2–6.2]. The cJADAS10 decreased from 13.5 [9.2–19.0] at T0 to 8.0 [4.2–11.8] at M3 (n=38; median change, –5.0 [–8.0; –2.0]; p<0.001) and to 2.0 [1.0–10.0] at M6 (n=25; median change, −9.0 [–12.0; –4.0]; p<0.001). Clinically inactive disease was documented in 27 of 36 children (75%) at M3 and in 19 of 28 (68%) at M6. Infections (≥1 episode) occurred in 13 of 41 patients (32%; at least 24 events). No serious adverse events, herpes zoster, or adverse events of special interest were recorded (0/41). Conclusion: Baricitinib treatment was associated with a marked reduction in disease activity and achievement of inactive disease in most patients. No serious adverse events or adverse events of special interest were recorded during follow-up; infections were the most common adverse events. Baricitinib may be an effective and safe treatment option for children with active JIA, although these findings require confirmation in prospective controlled studies.

Children with immune-mediated inflammatory diseases receiving immunosuppressive therapy are at increased risk of vaccine-preventable infections. Despite the availability of international recommendations on vaccination for this patient population, data on real-world immunization coverage in the Russian pediatric population are limited. Objective: To assess vaccination coverage in children (0–17 years inclusive) with rheumatic and immune-mediated inflammatory diseases before and after diagnosis, and to identify factors associated with immunization coverage. Materials and Methods: A single-center retrospective cohort study was conducted, including 336 patients with autoimmune diseases. Results: The study included children aged 0 to 17 years, with a median age of 14.1 years [11.1; 16.4]. Females predominated: 203/336 (60.4%) vs 133/336 (39.6%). Coverage with basic vaccines ranged from 82% to 87%: DTP components – pertussis 84.2% (95% CI 79.9–87.8), diphtheria 87.2% (83.2–90.4), tetanus 85.1% (80.9–88.5); polio – 83.9% (79.6–87.5); measles, rubella, mumps – 81.2% (76.7–85.1); BCG – 81.5% (77.1–85.3); hepatitis B – 82.4% (78.0–86.1). In contrast, vaccination coverage against respiratory pathogens remained low: pneumococcal infection – 23.5% (19.3–28.3), influenza – 20.2% (16.3–24.9). Therapy with biologic disease-modifying antirheumatic drugs (bDMARDs) showed no statistically significant association with influenza vaccination after the onset of immune-mediated inflammatory disease (OR 0.53; 95% CI 0.20–1.42; p=0.208). Conclusion: High coverage with basic National Immunization Schedule vaccines (81–87%) was found, with a substantial lag in coverage for vaccines most important for patients with potential immunosuppression. These findings support the integration of preventive vaccination into the standard patient pathway for immune-mediated inflammatory diseases, with a clear distribution of responsibility among specialists and regular verification of vaccination status.

Background: Facioscapulohumeral muscular dystrophy (FSHD) is a common hereditary neuromuscular disorder. The Russian FSHD Patient Registry was established in 2019 following the development of a PCR-based method for genetic confirmation of the diagnosis. Results: The registry included 470 participants (51% male). Genetic confirmation was obtained for 76% (n=356), the remainder were included based on clinical and anamnestic data. Clinical assessment forms and patient-reported questionnaires were analyzed for 310 and 142 patients, respectively. D4Z4 repeat unit (RU) distribution showed patterns consistent with European cohorts, with a predominance of patients with 3 RUs. A moderate inverse correlation was found between RUs number and clinical severity scales. Periscapular weakness was the most common onset manifestation (46.8%), followed by facial weakness (31.6%) which was often unnoticed by patients. The mean age in the Russian cohort was 37.8 years (range 0–97), indicating a younger cohort compared to international data. A delta-adjusted cluster analysis (n=215) identified three distinct trajectories: a classic phenotype with onset before age 14 and early involvement of various muscle groups (n=177), and two clusters characterized by either facial or periscapular onset with slow progression. Conclusion: The Russian FSHD registry provides a comprehensive characterization of a large national cohort, revealing a predominance of patients with 3 D4Z4 repeats and a younger demographic profile compared to international data. Cluster analysis identified three heterogeneous disease trajectories, offering a framework for improved patient stratification.

Background. One of the four important components of the formation of cognitive functions is somatic health. But to date, there are no population studies that consider the relationship with cognitive functions and school performance of a large range of somatic factors, which allows us to compare the strength of their hypothetical contribution to cognitive functioning with each other. This study is the second part of a population-based study, the first part of which is presented in the previous publication "A Single-Stage Population-Based Study of the Prevalence of Mild Cognitive Impairment in Children of Secondary School Age". Aims — to determine the main patterns in the relationship between cognitive-academic and somatic factors in a cohort of Russian children, 5th grade students at school. Methods. In Russian schoolchildren of the 5th grades of municipalities representing cities of all federal districts of the Russian Federation, the links with integrative cognitive success, the number of subtests performed at the level of mild cognitive impairment, the results of individual cognitive subtests, academic performance and the leading hand factor were analyzed — the following somatic factors: the presence of skin pathology, bronchial asthma, orthopedic, ophthalmological disorders, visual acuity, body mass index, parameters of the study of the function of external respiration, electrocardiography, ultrasound examination of the thyroid gland, laboratory blood tests. Results. The results of the survey of 1036 participants, 51% of them girls, were admitted to the analysis. It has been established that iron content is directly related to integrative cognitive success and school performance, the relationship is especially strong between subgroups of iron content above and below 26.4 mmol/l. Clinical levels of erythrocytes are more strongly associated with integrative cognitive success and individual cognitive functions than other factors: in erythropenia cognitive parameters are worse. The presence of thyroid cysts directly correlates with some of the worst parameters of cognitive activity. High body mass index and low hemoglobin are associated with poorer academic performance. Conclusions. The results of the study for the first time on a cohort of Russian schoolchildren showed a connection with cognitive activity and school performance of a number of somatic factors, including iron content, which requires further in-depth study.

Background. The emergence of new functional capabilities of statistical accounting made it possible to conduct a comparative analysis of the morbidity of allergic pathologies according to the registers of allergists and pediatricians from the Unified Medical Information and Analytical System (UMIAS) of Moscow with data from the Form of Federal Statistical Observation No. 12 (FSO No. 12). The aim of the study is to investigate the potential of using UMIAS for assessing/monitoring the morbidity of allergic diseases, including bronchial asthma in children, using the example of several outpatient clinics (OPCs) in Moscow. Methods. A study of combined design has been carried out. The data of children of several OPCs in Moscow were analyzed — data from UMIAS (observation registers of pediatricians and allergist-immunologists) and from the reporting forms of the FSO No. 12. Results. For a comparative analysis of statistical data from UMIAS and FSO No. 12, we studied the information of 60,851 children under 18 years of age. It was revealed that out of 60,851 children: allergic rhinitis according to FSO No. 12 and UMIAS was established in 1001 and 1059 patients; atopic dermatitis — in 142 and 345; urticaria — in 363 and 33; angioedema — in 4 and 16, respectively; food allergy — in 233 children according (to FSO No. 12) and in none of the children (according to UMIAS). Out of 60,851 children, 619 children were diagnosed with bronchial asthma according to the annual report (FSO No. 12) and 537 according to the pediatrician’s observation registers (UMIAS). At the same time, it was found that the diagnosis of bronchial asthma is not available as a separate nosology in the registry of an allergist-immunologist, and information about children with bronchial asthma is available to this specialist only when analyzing the uploaded information about children with other allergic diseases. Conclusion. A adequate sample ensured a high representativeness of the results obtained. The differences in the incidence rates of allergic diseases revealed by a comparative analysis of data from various sources — UMIAS and FSO No. 12 — indicate the need to improve both the system of statistical registration of incidence and the development of modern algorithms for early diagnosis and dynamic monitoring of children with allergies.

Background: Various mild cognitive impairments in children are socially significant disorders that are often found in the practice of pediatric neurologists, but the apparent lack of epidemiological data does not allow us to judge the scale of the problem. Aims: The aim of the study was to assess the prevalence of combined mild cognitive disorders in a large cohort of Russian children, 5th grade students at school. Materials and methods: The results of the examination of Russian schoolchildren of municipalities representing cities of all federal districts of the Russian Federation (RF) are analyzed. Cognitive functions were tested, which consisted of six subtests. According to the results of testing, using the method of assessing cognitive functions in population studies, the frequency of assigning participants to a high-risk group of combined mild cognitive impairment and the probability of diagnosis of combined mild cognitive impairment were evaluated. The analysis of the links between the breadth of results performed at the level of mild cognitive impairment, integrative cognitive success, the results of individual cognitive subtests with academic performance and the leading hand factor was carried out. . Results: 1,067 5th grade students at school were included in the study, 1,036 participants completed it, 51% of them girls. Belonging to the cluster of integrative cognitive successes and representation of the leading hand had no gender differences, subtests for visual-spatial perception/memory and constructive practice were better performed by boys (p 0.001 and p = 0.020), and girls, as a rule, performed better subtests for verbal-logical thinking and voluntary activity. attention (p = 0.050 and p = 0.051). According to the results of cognitive testing, a high risk of combined mild cognitive impairment was detected in 30.2% of the examined, and the probability of diagnosis of combined mild cognitive impairment was 7.5%. It was found that of the studied factors, the breadth of the results obtained at the level of moderate cognitive impairment and the effectiveness of the verbal-logical thinking subtest are more related to academic performance. At the same time, the strength of these ties was very moderate. The image of the leading hand was in no way associated with cognitive factors, including academic performance at the level of moderate cognitive impairment, but left-handedness was partially associated with better academic performance in literature. Conclusions: The results of the study, conducted for the first time on a multi-regional cohort of Russian schoolchildren, demonstrated a wide scale of the potential prevalence of mild cognitive impairment in children, and also revealed a number of patterns in the neurobiology of cognitive development.

The purpose of the work is the relevance of multilevel influence of deficiency of some nutrients on children's health. Nowadays, "unexplained" hemorrhagic syndrome is quite common in children. At the same time, standard methods of examination of patients do not allow to establish the cause of such pathology. Only a targeted study of the primary hemostasis will reveal dysaggregative thrombocytopathy. Often thrombocytopathies in children have an erased clinical picture and are not diagnosed in time. It is now known that increased platelet aggregation can be regarded as a predictor of the development of pathological disorders in the cardiovascular and other systems. Also increased platelet aggregation can lead to small vessel wall remodeling. The mechanisms of platelet activation are different. They depend on blood plasma composition, functional state and structure of both platelet membranes and functional state of endothelium. The clinical picture of platelet disorders of the hemostasis system is heterogeneous and includes hemorrhagic, ischemic and thrombotic manifestations. Diseases characterized by platelet disorders are not limited to congenital conditions. Often, against the background of any disease develops thrombocytopathies of an acquired nature. Abnormalities of platelet hemostasis are observed in patients of different profiles. The results of research of blood test results, level of serum iron, ferritin, vitamin B12, vitamin D demonstrated the presence of deficiency and insufficiency of microelements in children. The article presents data from laboratory studies reflecting abnormalities in platelet function on the background of vitamin B9, B12, D deficiency and decreased iron reserves. The results indicate the relevance of timely versatile examination of the pediatric population for the diagnosis of deficiencies of the main micronutrients and platelet diseases acquired on this background.

Background. The main orthopedic manifestation of osteogenesis imperfecta is multiple fractures. In severe disease, frequent fractures lead to malunion and deformity, which increases the risk of refracture. Surgical treatment of children with osteogenesis imperfecta is aimed at reducing the risk of complications and improving the quality of life of the child. The Fassier-Duval telescopic intramedullary system has taken the leading place among the growing metal fixators. In this study, we conduct a comparative analysis of the results of a longitudinal study between patients with osteogenesis imperfecta types I and III, as well as an assessment of motor activity. Aim. To evaluate the efficiency of using the telescopic intramedullary system depending on the type of osteogenesis imperfecta. Materials and methods. A prospective analysis of surgical treatment of 20 children with types I and III was carried out. Group I included 8 patients with type I NO, group II included 12 with type III. The average age of patients was 8.2 years. Surgical treatment was carried out on the basis of the neuroorthopedic department with orthopedics of the National Medical Research Center for Children's Health. A total of 48 intramedullary telescopic pins were installed. The average period of postoperative dynamic follow-up was 42 months. The analysis of the results of surgical treatment was carried out according to the following criteria: the frequency of migrations of metal structures, the formation of bone deformities, the number of revisions, as well as the number of bone fractures with an installed metal fixator. Evaluation of the results of motor activity was carried out using two scales: Gillette Functional Assesment Questionnaire (Gillette FAQ) and HofferBullock. Results. There were no statistical differences in the number of complications in the two groups. Fractures among patients with type I occurred more often than in patients with type III by 19.3%. The frequency of migrations in the I study group was 7.1% (1 segment), in the II group 35.3% (12 segments). The formation of deformation was the main factor in the revision intervention, which in our case amounted to 83.3%. In the group of patients with type I, the number of repeated operations was 7.1% (1 segment in 1 patient), in the group of patients with type III 17.6% (6 segments in 4 patients). All patients in the postoperative period had II or I level of motor capabilities on the HofferBullock scale. According to the Gillette FAQ scale in the postoperative period, the subjects showed a result above 4 points. Conclusion. The Fassier-Duval telescopic rod is a modern and reliable metal fixator. Despite the absence of statistical differences in the two study groups (p-value20.005), there was an increase in the tendency to complications in severe course with NO. Correction of varus deformation when restoring normal values of DN125 and HEA within 2538 is the prevention of the re-formation of the truth of Coxa Vara. The motor activity of children with severe course did not statistically differ from children with mild course (p-value20.005) in the postoperative period with an average follow-up period of 42 months, regardless of the initial low motor capabilities in children with type III.

Background. Thrombocytopathies are topical issues of pediatrics. Platelet dysfunction clinically manifests as thrombotic and hemorrhagic events of various severity and location. Platelet function can be evaluated via aggregatometry. Specified parameters for aggregatometry can be used in pediatrics as a standard for evaluating platelet function in peripheral blood. There were no similar studies in children in Russian Federation.Objective. The aim of the study is — to justify the significance of reference ranges (RR) development for platelet aggregatometry in pediatrics.Methods. The study included 30 relatively healthy patients aged from 1 to 18 years. Laboratory tests included complete blood count via automatic hematological analyzer; platelet aggregation in whole blood was evaluated via impedance aggregometer; plasmic hemostasis component (Quick prothrombin), activated partial thromboplastin time (APTT), thrombin time (TT), and fibrinogen were evaluated on automatic coagulation analyzer; molecular genetic study of platelet genes polymorphisms was performed via real-time PCR. Several inducers were used to study platelet aggregation: thrombin receptor activating peptide (TRAP), adenosine diphosphate (ADP), arachidonic acid (ASPI). Instrumental methods included electrocardiography, ultrasound of abdomen, urinary system, and thyroid gland.Results. The study included 16 girls and 14 boys. The median age was 9.4, interquartile range (IQR) was 6.5; 14,1. RR for platelet aggregation indicators were determined for all aggregation inducers (thrombin, ADP, arachidonic acid) as a result of the study.Conclusion. The obtained data will allow to improve the diagnosis approach for platelet dysfunction regarding the established reference ranges. The results of further research may contribute in the development of the algorithm for controlling antiplatelet therapy in patients with contraindications or with genetically determined low sensitivity to thrombocyte aggregation inhibitors based on acetylsalicylic acid.