The article describes the history of foundation and development, as well as new promising inventions of the National Medical Scientific Centre of Obstetrics, Gynaecology and Perinatal Medicine, which celebrates its 80-th anniversary in 2024. This is a unique federal institution, employing globally renowned, highly qualified scientists and clinicians and organically combining scientific, therapeutic, organisational and scholastic activities in the area of the woman and child health.

Aim. To evaluate screening methods for critical congenital heart defects (CHD), in particular obstructive aortic arch defects (OАADs), using dual-zone systolic blood pressure (SBP) and oxygen saturation measurements in healthy newborns.

Design. A prospective observational study.

Material and methods. The study included 12 098 healthy newborns aged 48 (36–50) hours of life, who were screened for critical CHDs using dual-zone measurements of SBP and saturation, as well as using physical methods. Screening for critical CHDs was considered normal if the saturation difference was 2% or less, the saturation was more than 95%, the difference in SBP was 9 mm Hg and less. If the screening was abnormal, echocardiography (ECHO-CG) was performed. The end point of the study was to determine the sensitivity and specificity of screening for OPAADs in healthy newborns using dual-zone measurement of SBP and saturation.

Results. 12 037 children had normal screening results. In these children, the difference in pre- and postductal SBP was 0 (standard deviation (σ) = 4.26 mm Hg, and the difference (Me) in saturation was 0 (σ = 0.93%). Dual-zone SBP screening was abnormal in 34 newborns. The difference in their SBP was 11 (10–34) mm Hg. In 16 of these children ECHO-CG did not reveal CHD, and in 4 — critical OAADs — coarctation of aorta was diagnosed. A decrease in peripheral pulsation in the femoral arteries was noted only in children with critical OAADs. Pulse oximetry screening was normal in these children with critical OAADs. Dual-zone saturation screening was abnormal in 16 children. The difference in saturation between them was 3 (3–5)%. In 13 of these children, ECHO-CG did not reveal CHDs, and in 1 child critical CHD was diagnosed — transposition of the great arteries. Also, this child (and another who was healthy) had a decrease in saturation of less than 95%. In 11 newborns, screening was abnormal only due to saturation of 95% or less, but ECHO-CG did not reveal CHDs. The sensitivity and specificity of screening for OAADs using dual-zone SBP measurement was 100 and 80%, and using dual-zone pulse oximetry was 0 and 73.6%, respectively.

Conclusions. In newborns with OAADs, a difference in SBP of 10 mmHg is recorded after 36 hours of their life. Dual-zone measurement of SBP is the most highly sensitive and specific method for detecting OAADs in comparison with dual-zone pulse oximetry. Dual-zone measurement of SBP and determination of peripheral pulsation are recommended for inclusion in the neonatal screening protocol for critical CHDs.

Aim. Study effect of cellulose powder on the functional state of the ciliary epithelium in children with bronchial obstruction.

Design. Open prospective non-randomized clinical study.

Material and methods. The study involved 60 children from 3 to 11 years, with a history of frequent acute respiratory viral infections (ARVI), occurring with bronchial obstruction or exacerbation of bronchial asthma. Motor activity of the ciliary epithelium was registered with the digital high-speed videomicroscopy method initially and 3 months after the start of the three-month course of its application. Patients were also assessed for the frequency of acute respiratory viral infections; the objective and subjective symptoms of ARVI episodes were evaluated with a point scale during the follow-up period.

Results. After completing the three-month course of cellulose powder with wild garlic extract usage, it was revealed that 55 (91.7%) children did not get ARVI during follow-up, 5 (8.3%) children had ARVI once. There was a reduction in the duration of the disease, a decrease in the severity of symptoms compared with those in previous years, on the scale of severity assessment of symptoms in patients with ARVI: in previous years — 17 (16; 18) points, when interviewed after the use of the studied drug — 9 (7; 10) points (p < 0.05). Of the five children who were ill, only one child developed obstructive bronchitis on the background of a viral infection. The relative number of cells with motile cilia: the middle nasal concha (MNC) — 25% (20%; 30%), the inferior nasal concha (INC) — 25% (15%; 30%); 3 months after the start of taking the cellulose powder: MNC — 40% (30%; 45%), INC — 35% (35%; 45%) (p < 0.01). Ciliary beat frequency in patients initially: MNC — 4.7 (4.2; 5.9) Hz, INC — 4.9 (4.2; 5.7) Hz; 3 months after MNC — 5.9 (5.7; 7.9) Hz (p < 0.01), INC — 6.2 (5.5; 7.2) Hz (р < 0.05).

Conclusion. The use of cellulose powder for preventive purposes prevents infection with ARVIs, protects against reinfection, and also helps to reduce the duration and the severity of the disease manifestations. There is a positive dynamics in the functional status of the ciliary epithelium of the upper respiratory tract, which may reflect a more complete restoration of the mucosa against the background of the absence of ARVI.

Aim. To assess the nutritional status and body composition of children with atopic dermatitis (AD) and food allergy (FA).

Design. Prospective comparative observational study.

Materials and methods. We observed 129 children: 59 participants in the main group with AD, the exacerbations of which are associated with FA, and 70 children in the comparison group. Age — from 1 year to 6 years (mean age — 3.44 ± 1.61 years). In the main group, there were 32 (54.2%) boys and 27 (45.8%) girls. Mild AD was observed in 12 (20.3%), moderate — in 36 (61.1%), severe — in 11 (18.6%) children. All patients followed elimination diets. A comprehensive clinical, laboratory, instrumental, allergological (for specific IgE antibodies to food allergens) examination was conducted, as well as measuring the height and body weight of patients. Body composition was determined by bioimpedancemetry.

Results. Assessment of nutritional status showed that Z-score indicators were normal in 24 (40.7%) patients of the main group and in 54 (77.1%) children from the comparison group. Mild and moderate body weight deficit was observed only in the main group — in 31 (52.5%) children. In the main group and in the comparison group, children with overweight and obesity were identified (6.8 and 22.9%, respectively, p = 0.0003). Anthropometric indicators according to Z-score corresponded to the parameters of body component composition. A detailed analysis of the body component composition showed that children with mild to moderate underweight had disorders in the form of decreased lean, fat, skeletal muscle and active cell mass, which most accurately reflects the nutritional status of these patients. Etiologically significant allergens were egg (47.5%) and cow's milk (35.6%), as well as soy (16.9%), cod (13.6%), and wheat (13.6%).

Conclusion. Most children with AD and PA had nutritional deficiencies associated with alimentary factors (deficiency of nutrients due to long-term elimination diets). Some children, on the contrary, were overweight and obese, which is an alarming sign. The type of diet therapy in such patients should be selected depending on the nutritional status and body component composition.

Aim. To assess the dynamics of psychomotor development indicators during medical habilitation in infants of the first year of life with impaired motor development, born with different gestational ages.

Design. Comparative study.

Materials and methods. Eighty children of the first year of life were examined. The main group consisted of 64 infants with impaired motor development, the control group — 16 healthy full-term infants. Depending on the gestational age at birth, the infants of the main group were divided into 4 subgroups: very premature (n = 16), moderately premature (n = 16), late premature (n = 16), and full-term (n = 16) infants. Before and after the completion of the medical habilitation course, all patients were assessed for psychomotor development using the L.T. Zhurba and E.M. Mastyukova scale.

Results. Before the medical habilitation course, patients in all studied subgroups showed a delay in psychomotor development, which was more pronounced in very premature infaants. Against the background of medical habilitation measures, the most pronounced positive dynamics were noted in premature babies, especially in very premature patients.

Conclusion. The results obtained can be used to develop a differentiated approach to managing patients of different gestational ages with impaired motor development, which will help to increase the effectiveness of medical habilitation and minimize the severity of motor disorders.

Aim. A study of the relationship between indicators of central nervous system functioning in adolescents and various types of Internet use: adaptive (AIU), non-adaptive (NIU) and pathological (PIU).

Design. Comparative clinical study.

Materials and methods. The study included 202 adolescents aged 12 to 17 years old (median age: 14 [13; 15] years old), pupils from general educational establishments of Abakhan (Republic of Khakassia) with various online behaviours: 86 (42.6%) boys and 116 (57.4%) girls. The observation groups were formed on the basis of their online behaviour: 71 (35.1%) adolescents with adaptive Internet use, 107 (53.0%) — with non-adaptive Internet use, and 24 (11.9%) — with abnormal Internet use. The examination program involved the study of the following parameters and characteristics: type of online behaviour, quantitative parameters of the simple sensomotor reaction to visual stimulation and its integral characteristics (levels of CNS activation, accuracy, speed and stability of reactions). The functional state of the CNS (optimal, satisfactory, unsatisfactory) was assessed using the characteristics of the simple sensomotor reaction to visual stimulation using Psikhofiziolog computer appliance.

Results. In adolescents with PIU, a tendency was revealed to deteriorate certain indicators of the sensorimotor test, which was manifested by a decrease in concentration and stability of attention (in terms of error-freeness and stability) and slower reactions (in terms of speed of action). The results of the study indicate the predominance of inhibition processes in the central nervous system, a state of fatigue, a decrease in mental performance and cognitive activity in adolescents with PIU.

Conclusion. The data obtained prove the relevance of the problem of pathological Internet use and its impact on health in the ontogenetic period under study, and indicate the need for its further study in order to optimize preventive and corrective measures in the teenage population of Internet users.

Aim. To study the effects of sanatory rehabilitation factors for the intensity of asthenic manifestations of post-COVID syndrome in school-aged children.

Design. A non-randomized controlled study was conducted.

Materials and methods. We examined 60 children aged 8 to 13 years old with asthenic manifestations of post-COVID syndrome; 20 healthy children were used as controls. Rehabilitation was organised at Svetlana health camp (a branch of the Territorial Clinical Hospital, Perm). All children shared their complaints and medical history as well as had their somatic and neurological status checked before and after rehabilitation. The degree of asthenia was determined using the Multidimensional Fatigue Scale; the functional status was evaluated using the functional status scale for post-COVID-19 patients; vegetative manifestations were recorded in a questionnaire and a pattern developed by A. M. Wein. Saliva levels of monocytic chemotactic protein-1 were determined with ELISA.

Results. Children with past COVID-19 demonstrated a higher level of asthenia seen on the fatigue sub-scale — 81.22 [50.0; 100.0] points (р = 0.02 vs. controls), together with vegetative disorders; and saliva levels of monocytic chemotactic protein-1 (18.0 [12.5; 29.7] pg/mL) were higher than in controls (16.35 [11.00; 22.60] pg/mL; р = 0.012). After rehabilitation in a health camp, the intensity of asthenia decreased to 87.18 [75.0; 100.0] (р = 0.02), vegetative dysfunction improved, and functional status class changed from 1.74 [1.0; 3.0] to 0.77 [0; 1.0] (р = 0.02); saliva levels of monocytic chemotactic protein-1 increased to 23.1 [13.7; 43.7] pg/mL (p = 0.04). Quantitative changes are associated with improved clinical manifestations of post-COVID syndrome; therefore, elevated levels of this protein are a positive change.

Conclusion. Post-COVID syndrome in school-aged children manifested with asthenic and vegetative disorders. Rehabilitation sanatory factors have favourable effect on the clinical manifestations of post-COVID syndrome, as well as the saliva concentration of monocytic chemotactic protein.

Aim. To study the prevalence of polymorphisms rs17549193 and rs7851696 of the ficolin-2 gene FCN2 among the Nenets, Dolgan-Nganasan and Slavic populations using a molecular genetic study of single nucleotide polymorphisms.

Design. Comparative population-genetic research.

Materials and methods. Newborn infants of the Taimyr Dolgan-Nenets district of the Krasnoyarsk Territory — Nenets (n = 261) and Dolgan-Nganasan (n = 104) — and Slavic children of Krasnoyarsk aged 8–18 years with and without bronchial asthma of varying severity were examined. DNA extraction from venous blood and dry blood stains was performed. The genotyping of polymorphisms rs17549193 and rs7851696 of the FCN2 gene was performed by real-time polymerase chain reaction.

Results. The minor allele of the polymorphism rs17549193 FCN2 in Nenets is significantly less than in Slavs of control group and with asthma — 19.9% vs. 28.8% (p < 0.001) and 27.5% (p = 0.002). The prevalence of the T allelic variant rs7851696 FCN2 in the Nenets and Dolgan-Nganasans is also lower than in the Slavs with and without asthma — 7.3 and 3.8% vs. 14.6 and 12.6% (p < 0.05).

Conclusion. Due to the fact that most human diseases are genetic determinism, it is relevant to study the characteristic features in individual populations to draw up recommendations to healthcare organizations. Understanding the role and functions of ficolin-2 as one of the proteins of the lectin pathway of activation of the complement system is of great importance for the development of new methods of disease prevention and evaluation of the functioning of immune protection.

Aim. To present current data on the characterization, methodology, and use of lung ultrasound (LUS) in the diagnosis of pneumonia in children.

Key points. Respiratory pathology is most common in childhood due to the peculiarities of immunity and structure of the respiratory tract. Pneumonia is a not uncommon disease of the lower respiratory tract in children, requiring quick, accurate and easy to perform diagnosis, as well as correct and timely treatment. Recently, lung ultrasound examination has been gaining popularity as a tool for diagnosing diseases of the lower respiratory tract, including pneumonias. It was widely used during the COVID-19 pandemic, when there were a lot of patients. The advantages of this method are the ease of the procedure, the speed of obtaining results, the absence of ionizing radiation and the non-invasiveness of the study. Ultrasound allows for a real-time assessment of the lung tissue lesion pattern. Also, an ultrasound examination lets the child stay with their mother and keep calm during the diagnostic procedure, preventing stress. Numerous trials demonstrated high specificity and sensitivity of this diagnostic method. Results of the common and more time-consuming diagnostic methods, such as lung CT and lung X-ray, have been compared with ultrasonographic results. With lung ultrasound, the possibility of dynamic patient monitoring is opened up without the fear of receiving unnecessary radiation exposure. The review presents data on the gaining popularity of LUS, its sensitivity and specificity, the technique of the study, as well as characteristic signs of pulmonary lesions in pneumonia.

Conclusion. Lung ultrasound as a tool for pneumonia diagnostics is widely used abroad and has been included in pneumonia management protocols. Ease-of-use and safety for patients facilitate the introduction and application of this diagnostic method in paediatric inpatient units; later, it can be used in outpatient settings as well. Multidisciplinary approach to the diagnosis of pneumonia contributes to the acceleration of the correct diagnosis and the beginning of adequate therapy.

Aim. To analyze the clinical application of metabolomics in intrauterine growth retardation (IUGR), as well as to identify and discuss the most important metabolites and their clinical significance in intrauterine and postnatal growth disorders.

Key points. IUGR determines the health status not only in the neonatal period and early childhood, but also in subsequent life. IUGR is a consequence of various reasons related to maternal health, the influence of environmental factors, genetics, as well as the complications of pregnancy, including multiple pregnancies, placental disorders and anomalies of the umbilical cord. Changes in metabolic processes in the fetal body due to disturbances in intrauterine growth, as well as rational feeding in the neonatal period, largely determine the phenotype of the newborn and the trajectory of further development. Metabolomics, also called “new clinical biochemistry,” is an approach based on the systematic study of the complete set of metabolites in a biological sample. The metabolome reflects the characteristics of the phenotype and takes into account epigenetic differences.

Conclusion. Metabolomics is a relatively new technology, the results of its application in neonatology are few, and it is not yet possible to draw clear conclusions about the role of one or another metabolite in the diagnosis of diseases of the newborn. However, it is already obvious that the study of the metabolomic spectrum provides a theoretical basis for further research into the mechanisms underlying complications associated with IUGR, as well as treatment and prevention measures.

Aim. To provide up-to-date data regarding the epidemiology, pathogenesis, clinical manifestations and therapeutic approaches of EoE with a focus on childhood and adolescence.

Key points. Current epidemiologic data indicate a steady increase in the incidence of EoE in pediatric populations in many countries around the world. The key role in the development of EoE is played by genetic factors, atopy and hypersensitivity to food antigens. Clinical manifestations of EoE in children are age-dependent and include eating disorders, vomiting, abdominal pain, dysphagia, and food sticking in the esophagus. Diagnosis of EoE is based on the combination of characteristic clinical symptoms and histologic picture of eosinophilic infiltration of esophageal mucosa, while excluding other causes of eosinophilia. The main directions of EoE therapy are dietary therapy with elimination of causative products, drug treatment with topical corticosteroids and endoscopic dilation of esophageal strictures.

Conclusion. Further research is needed to better understand the molecular mechanisms of EoE, develop new diagnostic biomarkers, and optimize therapeutic approaches. Given the chronic recurrent course of EoE, long-term dynamic follow-up of patients by a multidisciplinary team of specialists is important to improve the quality of life and prevent complications.

Aim. To demonstrate the prevalence and structure of thyroid diseases in children with Down syndrome (DS), and to analyze the features of their diagnosis and treatment.

Key points. Thyroid gland pathology in DS includes congenital hypothyroidism (CH), subclinical hypothyroidism (SH), chronic autoimmune thyroiditis (CAT), and diffuse toxic goiter (DTG). Thyroid diseases are more common and occur earlier in individuals with DS than in the general population; their presence is independent of gender. SH is identified in 7–40% of patients with DS, but progresses to overt hypothyroidism in less than half of the cases. Various clinical guidelines recommend that patients with DS should have their thyroid-stimulating hormone (TSH) levels monitored regularly, every 6–12 months, and, if necessary, their free thyroxine and thyroid peroxidase antibodies. The treatment of CH, CAT, and DTG in DS patients is the same as in patients without DS. Most researchers advocate against levothyroxine therapy for SH, as there is no evidence of benefit from early treatment, and elevated TSH levels are often mild and transient.

Conclusion. The high prevalence and wide spectrum of thyroid pathology in patients with DS necessitate regular monitoring of hormone levels. The complexity of interpreting isolated TSH elevation can complicate treatment decisions. In recent years, a more justified strategy of “watchful waiting” along with more frequent laboratory tests has become more prevalent.

Aim. To describe a clinical case of neonatal lupus with skin syndrome, a retrospective assessment of the significance and genesis of episodes of sinus bradycardia, recorded in utero and persisted postnatally, and neutropenia in the neonatal period.

Key points. Neonatal lupus is a rare syndrome characterized by transient dermatitis, various systemic disorders, hematological changes and/ or congenital fetal heart block. At its core, this is a model of a passively acquired transient immune disease of newborns, which is based on the transplacental transfer of specific maternal antibodies represented exclusively by immunoglobulin G through the Fc receptors of the trophoblast. Difficulties for diagnosis represent neonatal lupus cases with minimal clinical manifestations in a newborn from a mother without an established diagnosis of rheumatic disease.

Conclusion. In the isolated cutaneous form of neonatal lupus syndrome, specific treatment is not required; observation by a pediatrician with monitoring of a blood test confirming the elimination of maternal antibodies is indicated. However, taking into account the possibility of damage to the conduction system of the heart, registration of a surface electrocardiogram and regular monitoring (at least once every 6 months) of 24-hour electrocardiogram monitoring data are necessary.

Aim. To provide overview information on predictors of relapses of bronchial obstruction in young children and the likelihood of them developing bronchial asthma in the future.

Key points. Over the past few years, more than 280 papers have been published confirming the important role of HLA-G in the regulation of the human immune system, indicating HLA-G antigens as a prognostic factor in the development of various pathological conditions. HLA-G proteins have been shown to be involved in the immune regulation of the pathogenesis of autoimmune and allergic diseases, such as gastrointestinal, skin, neurological and rheumatological diseases, as well as in the pathology of pregnancy.

Conclusion. The level of sHLA-G is particularly significant in the development of inflammatory processes in allergic diseases, in particular bronchial asthma, which opens up new opportunities for its use as an important marker of inflammation. In addition, sHLA-G, as an accessible diagnostic indicator, can be effectively introduced into the healthcare system, thereby aiding in the prediction of allergic diseases and monitoring maintenance therapy.

Aim. To present a clinical case of the development of arginine-succinic aciduria (AYAA) of a newborn.

Key points. The main aspects of the clinical performance, diagnosis, as well as the principles of treatment of AYAA are considered. The incidence of ANA is 1 case per 70 000 newborns. The cause is a defect in the enzyme arginine succinathy lyase, accompanied by the accumulation of toxic metabolites. The authors focused on the development of clinical symptoms of the patient. Using specialized diagnostic methods — gas chromatography and tandem mass spectrometry, as well as the method of mass parallel sequencing, despite the therapy, led to death.

Conclusion. This clinical case demonstrates the importance of early diagnosis of patients with congenital metabolic disorders. It should be remembered that AYAA is a congenital defect, which can be diagnosed by clinical symptoms and the use of gas chromatography, tandem mass spectrometry, and mass parallel sequencing.