In recent decades, there has been a distinct increase in the number of deeply and extremely preterm children without structural organic lesions of the nervous system. A comprehensive study and clinical observations of these children reveal their differences from full-term peers, becoming the most obvious by the beginning of schooling. In this article, we consider the cognitive, behavioral, and socializing features of these children, paying attention to key biosocial factors of their development, such as the long-term influence of the early neonatal period on the formation of brain structures and connections and the «resetting» of the neurohumoral system, the role of genomic polymorphism, the special importance of a favorable environment for the emotional well-being and success of these children among their peers. Knowledge and understanding of extremely preterm infants’ specific development, typical risks of behavioral disorders and social disfavor is of great practical importance for prolonged interdisciplinary follow-up — in the form of appropriate medical, educational, and psychological programs.

In late 2019, a new subtype of coronavirus named Severe Acute Respiratory Syndrome Coronavirus 2 (COVID-19 SARS-CoV-2) rapidly spread around the world, causing a global pandemic. Initially, the proportion of confirmed cases among children was relatively small, and it was believed that children were rarely infected. Subsequent observations have shown that in children and adolescents, the infection is either asymptomatic or paucisymptomatic, and therefore the true incidence is underestimated due to the lack of testing. The article systematizes the results of studies on the prevalence, diagnosis, clinical features, vaccination, and treatment of children with a new coronavirus infection COVID-19 SARS-CoV-2. The SARS-CoV-2 positivity rate throughout the peak of the pandemic in children was low compared to adults. Children are not only less likely to become infected with the virus, but they also endure the infection more easily than adults. The mortality rate in children with COVID-19 was <0.5%. In most children, infection is either asymptomatic or paucisymptomatic. Vaccination of children and adolescents is recommended mainly to achieve herd immunity in all age groups. However, there are no convincing data on the duration of the immune response, the level of the required protective antibody titer, as well as on the long-term side effects of vaccination due to the insufficient follow-up period and the uncertainty of the immune response criteria. As information is accumulated on the viral load of children and adolescents, their role in the transmission of the virus, diagnostic approaches in this age group are optimized. The effectiveness of the treatment was tested on patients admitted to the hospital, and recommendations for treatment were developed. Currently, global research efforts are focused on the protection of particularly vulnerable children, the prospects for total childhood vaccination, its effectiveness and safety.

COVID-19 coronavirus infection caused by the SARS-CoV-2 virus has become a real disaster for all of humanity. Today, issues related to diagnostics, clinical presentations, treatment of the complications, preventive measures, including vaccination for a new coronavirus infection, are relevant. It is also important to identify risk factors for a severe course of the disease, features of the development of infection against the background of comorbid conditions and different immunological reactivity of the human body. The comorbidity of allergic and infectious diseases is based on the common humoral and cellular mechanisms of the immune response. The trigger for the development of allergic diseases is often the viruses of measles and chickenpox, influenza, parainfluenza, rhinoviruses, enteroviruses, respiratory syncytial viruses, coronaviruses, and others. Most allergic patients are predisposed to acute respiratory viral infections. COVID-19 occurs in 0.39–12.3% of children. Children tend to have milder disease than adults and have low mortality rates. At the same time, one should not forget about the adequate support for patients with chronic diseases, especially children with allergic diseases. Viruses and preventive hygiene measures associated with a pandemic are triggers of an exacerbation of bronchial asthma and atopic dermatitis. Early diagnosis, adequate treatment of allergic diseases in children, and provision of doctors with information are also problematic. It is important to understand which patients with bronchial asthma are at particular risk and how inhaled glucocorticosteroids may influence the course and outcome of COVID-19. International associations and societies have developed guidelines for the management of children with allergies during the COVID-19 pandemic. Inhaled glucocorticosteroids for bronchial asthma reduce the expression of genes of the main target receptors for the SARS-CoV-2 virus. Anti-inflammatory therapy for asthma, primarily inhaled glucocorticosteroids, should be continued until asthma control is achieved, which will help reduce the risk of an unfavorable course of COVID-19.

A review of the literature data describing the influence of prenatal diagnosis of critical congenital heart defects on perioperative and long-term results is presented, with a focus on the features of prenatal detection of transposition of the great arteries. This heart defect is a convenient object of studying due to the relative anatomical homogeneity of the nosological form; the birth of patients, as a rule, at full term; the rarity of the combination of this pathology with multiple congenital malformations and chromosomal abnormalities that can potentially worsen the results of treatment; the similarity of the principles of preoperative management in this category of patients in different clinics; the performing of arterial switch surgery in a strictly defined time frame (usually during the first month of life); the relative similarity of surgical techniques used. The relevance of this study is to identify patterns that make it possible to improve existing protocols for the treatment of newborns with transposition of the great arteries and create new algorithms for interaction between gynecologists, neonatologists, resuscitators, and cardiac surgeons.

The article presents literature review findings on the prevalence, diagnosis, and treatment of hyperlipidemia, including familial hypercholesterolemia in children. It is noted that the number of patients with hyperlipidemia continues to grow throughout the world. As before, hyperlipidemias are considered risk factors for the development of cardiovascular diseases and the cause of high mortality in different countries of the world. Attention is drawn to the possibility of atherosclerotic lesions of the heart vessels in young people and adolescents. Diseases in children (diabetes mellitus, obesity, hypothyroidism, renal pathology, etc.) have been noted, which necessitate diagnosing hyperlipidemia. There are no clear guidelines for pediatricians regarding cholesterol screening and timing of therapy initiation.

Normobaric hypoxic therapy is a therapeutic or prophylactic use of gas hypoxic mixture containing 10% oxygen and 90% nitrogen, alternating with breathing atmospheric air at normal barometric pressure. The use of normobaric hypoxic therapy allows activating and using genetically programmed mechanisms aimed at increasing the nonspecific resistance of the body. The history data, pathogenesis of normobaric hypoxic therapy, the procedure and its effect on the cardiovascular system are described.

The research is focused on the evaluation of a general blood test in children with a new coronavirus infection, depending on the severity of the disease. 107 patients with virus-identified new coronavirus infection aged 7–14 years were examined. 19 (17.8%) were diagnosed with asymptomatic, 69 (64.4%) mild, and 19 (17.8%) moderate COVID-19. The control group is represented by 75 healthy children. The hemogram indicators in each group were analyzed, a correlation analysis of the red and white blood cell counts with the severity of the disease was carried out. In children with a new coronavirus infection, a significant decrease in the blood hemoglobin relative to the control group was revealed, although not exceeding the normal values. An inverse correlation was established between a decrease in the WBC and absolute lymphocytes count and the severity of clinical manifestations of the disease.

Spinal muscular atrophy (SMA) is a severe genetic disease associated with impaired SMN protein synthesis and degeneration of alpha motor neurons in the spinal cord. Developing neurogenic kyphoscoliosis and deformity of the chest against the background of symmetrical muscular hypotension sharply limit the activity of patients, worsening the concomitant diseases.
Purpose. The study aims at determining the comorbid background of children with type II–III spinal muscular atrophy who underwent inpatient treatment for acquired skeletal bone deformities.
Material and methods. A retrospective analysis of the data was carried out for the period from 2017 to 2021 based on the medical records of 31 children. The study group included 10 girls and 21 boys; 16 children were with type II and 15 — with type III spinal muscular atrophy. The following were assessed: comorbidity, neurological status, hemodynamic parameters, echocardiography, spirometry, laboratory research data.
Results. In our study, comorbidity was associated with nutritional status (19% of patients overweight, 29% underweight), mental retardation (3%), gastroesophageal reflux disease (19%), diseases of the ENT organs (16%), eyes (19%), heart and lungs (93%). For health reasons, 61% of children required the use of non-invasive ventilation, and 71% of insufflator-aspirators. Limited motor abilities were registered based on the HFMSE and GMFCS scales, dysphagia based on the EDACS scale. A biochemical blood test revealed a low level of creatinine.
Conclusion. Patients with spinal muscular atrophy require multidisciplinary care in diagnosis, treatment and rehabilitation. The use of objective rating scales, instrumental and laboratory methods of examination allow for a comprehensive analysis of the potential of children with spinal muscular atrophy, to select effective, family-oriented treatment regimens. Serum creatinine as a biomarker for the severity of muscle denervation makes it possible to monitor the progression of spinal muscular atrophy and predict response to treatment.

Peptic ulcer disease is a fairly rare pathology of childhood. Therefore, it is important to analyze some features of peptic ulcer of the stomach and duodenum in children, depending on the body type.
Purpose. To analyze some features of peptic ulcer of the stomach and duodenum in children, depending on the body type.
Material and methods. We examined 58 children aged 12–18 years with a diagnosis of peptic ulcer of the stomach and/or duodenum, who underwent endoscopic examination, H. pylori was detected in the biopsy and aero test.
Results. Peptic ulcer disease was more often detected in asthenic children (67.2%), less often in hypersthenic (17.3%) and normosthenics (15.5%). Various research methods in asthenic children (97.4%) revealed the presence of H. pylori more often than in hyperor normosthenic children.
Conclusion. Children with an asthenic type of constitution are more prone to Hp-associated forms of gastric and duodenal ulcers than hypersthenics or normosthenics.

The purpose of the study was to evaluate the course and outcome in chronic kidney disease of congenital anomalies of the kidneys and urinary tract (CAKUT) associated with rare hereditary syndromes in children and adolescents, and to compare the results with literature data. The results of a follow-up study of the course and outcome in chronic kidney disease with syndromal congenital anomalies of the kidneys and urinary tract in rare hereditary syndromes (Pierson, Fraser 1 type, Renal hypodysplasia/ aplasia 3 type, Schuurs– Hoeómakers, CHARGE, Lowe, Renal-Coloboma, VACTERL association) and chromosomal abnormalities (Shereshevsky—Terner monosomia 45) are presented. In 4 out of 9 children and adolescents with congenital anomalies of the kidneys and urinary tract with rare hereditary syndromes, the formation of chronic kidney disease was established.

The authors analyzed clinical and morphological correlations between the manifestations and outcome in nephritis with Henoch– Schönlein purpura and assessed the effect of morphological data on achieving remission as per ISKDC, SQC, MEST-C classification.
Patients and methods. 32 patients with nephritis in Henoch–Schönlein purpura (15 girls and 17 boys) were enrolled into retrospective longitudinal single-center study, median of primary admission to the nephrological department was 9.0 y. o. [5; 12 y.]. Clinical features of the onset (age, form of onset, glomerular filtration rate, daily proteinuria, hematuria, serum IgA level) and the course of the disease were analyzed in all children. The morphological data were assessed using such morphological classifications as ISKDC, SQC, MEST-C. A search for statistically significant relationships between clinical and morphological data and a comparative analysis of the influence of each morphological classification on the achievement of remission were carried out.
Results. The sum of the SQC scores had a statistically significant effect on the outcome (p=0.006): in patients with complete remission, on average, 4 points were obtained, patients who did not achieve remission had 2 points more. When assessing the likelihood of detecting remission depending on the total score of the Oxford scale using the ROC-analysis, a statistically significant model was obtained (p=0.012). If the total MEST-C score was less than or equal to 3, remission was predicted (=0.032). The sensitivity and specificity of the method were both 75%.
Conclusions. The practical application of the Oxford MEST-C classification and the new semi-quantitative SQC classification in comparison with the ISKDC classification for children with nephritis in Henoch–Schönlein purpura is promising for predicting an unfavorable renal outcome.

Purpose. To study the quality of life of children aged 13–17 years with atopic dermatitis, depending on the sex of the child, the severity of the disease.
Material and methods. 350 children aged 13–17 with atopic dermatitis (observation group) and 350 children of the same age of I– II health groups, without allergic diseases (comparison group) were examined. The quality of life of children and their parents was studied using a general questionnaire, Pediatric Quality of Life Inventory — PedsQL™4.0 (Varni J. et al., USA, 2001).
Results. The quality of life of children with atopic dermatitis aged 13–17 years is reduced in all respects in comparison with their healthy peers. Atopic dermatitis had the greatest negative impact on such areas of the child’s life as emotional, school, and social functioning. The quality of life in children aged 13–17 years with severe cases of atopic dermatitis was significantly more impaired in girls, compared with boys. Parents rated the quality of life of their children higher than the children themselves.
Conclusion. A significant decrease in emotional, school, and social functioning in the structure of the components of the quality of life of children aged 13–17 years with atopic dermatitis indicates the need for timely diagnosis of these disorders and their correction.

Heterotaxy syndrome is a congenital malformation in which the internal organs of the chest and abdominal cavity have an abnormal location. People suffering from this syndrome have multiple complex defects in the heart, blood vessels, spleen, liver, lungs and other organs. Heterotaxy is a rare pathology that requires a multidisciplinary approach to diagnosis. This article demonstrates a rare case of heterotaxy observed in the pulmonology clinic of the Veltischev Institute.

The article presents the observation of a rare hereditary disease: Adams–Oliver syndrome. In a newborn girl in the postnatal period, a lesion of the distal extremities was revealed in the form of syndactyly of the proximal phalanges of 4–5 and 2–3 fingers, hypoplasia of the nail phalanges of 2–5 fingers of the left foot, fusion of the proximal phalanges and the absence of middle and nail phalanges of 2–3 fingers of the right foot, hypoplasia of the terminal phalanx and the absence of the nail plate of the 2nd finger of the left hand. In addition to malformations of the extremities, anomalies in the development of the skin on the scalp in the form of an area of aplasia and outgrowths, represented by sweat gland hyperplasia with a fibroepithelial outgrowth, were noted. Cardiac pathology was manifested by a heart rhythm disturbance of the type of sinus bradyarrhythmia. Adams–Oliver syndrome is a complex disease with phenotypic variability, which causes difficulties in clinical diagnosis.

Tularemia in the practice of a pediatric surgeon is a rare disease, and abdominal and generalized forms of it are not detected without specific laboratory diagnostics. The long-term serious condition of patients, intoxication, abdominal pain with excluded acute surgical pathology in children force differential diagnosis with rare infectious diseases, including tularemia. In the Russian Federation, up to 30 children a year are diagnosed with tularemia, with the exception of outbreaks of the disease in some years. At the same time, the generalized form is detected in no more than 10% of patients. The authors presented a clinical case of a generalized form of tularemia in a 17-year-old patient. The disease started with abdominal pain, diarrhea and vomiting. At the beginning of the disease, a diagnostic error was made — suspicion of ovarian inversion and laparotomy according to Pfannenstiel. In the further development of the disease, pronounced ascites were detected with the production of up to 5 liters of effusion per day, damage to the kidneys, liver, heart, gastrointestinal tract. Laboratory data revealed leukocytosis up to 89×109, accelerated erythrocyte sedimentation rate, increased levels of creatinine, urea, transaminases, C-reactive protein, proteinuria persisted for a long time. Indirect hemagglutination reaction with tularemia diagnosticum made it possible to establish the diagnosis of tularemia, generalized form. During two weeks of the disease, an 8-fold increase in the titer of antibodies was noted. Syndrome therapy and specific antibacterial therapy made it possible to stop the infectious process and discharge the patient home on the 44th day of the illness with recovery.

Kabuki syndrome is a well-known disease characterized by postnatal growth failure, dysmorphic facial features, skeletal abnormalities, and mental retardation associated with one of the pathogenic mutations in the KMT2D or KDM6A genes. At least 50% of individuals with Kabuki syndrome tend to develop recurrent infections and immune abnormalities, primarily hypogammaglobulinemia. The article describes the clinical course of resistant infectious syndrome in an 18-month-old child without typical dysmorphic and dermatoglyphic manifestations characteristic of Kabuki syndrome. A long history of resistant bacterial infection, enterocolitis, microcephaly, autistic-like behavior, hyperkinetic disorder, CT scan patterns of granulomatous lymphocytic interstitial lung disease (GLILD), suggested the immunodeficiency as part of a hereditary genetically determined syndrome. At the same time, the patient did not experience hypogammaglobulinemia characteristic of Kabuki syndrome. The upper normal response to previously received vaccination and a polyclonal repertoire of B-lymphocytes indicated the absence of disturbances in the humoral immunity. Immunophenotyping revealed the absence of T-regulatory cells (CD4+CD25++CD127–) as well as effector NK cells (CD16+CD56+CD3–) in the peripheral blood. The significant reduction of CD4+CD3+ T-lymphocytes and CD4+/CD8+ index was observed. In addition, no expression of integrin-beta (CD18) on neutrophils revealed.
Conclusion. In children under the age of 2, Kabuki syndrome may present difficulties for clinical diagnosis due to the absence of distinctive phenotypic signs. Patients with mental disorders, congenital malformations, recurrent infections suspected of immunodeficiency should be carried out using molecular genetic exploration, including testing for mutations in the KMT2D and KDM6A.

Angelman syndrome is a rare neurogenetic disease caused by the loss of the function of the maternal allele of the UBE3A gene on chromosome 15 (site 15q11.2–q13) and is characterized by severe mental retardation, lack of speech, epilepsy, microcephaly and a characteristic facial phenotype with a unique behavior in the form of frequent laughter. The combination of microcephaly, epilepsy, speechlessness and mental retardation poses a problem for differential diagnosis with many genetic diseases presenting with similar symptoms. Epileptic encephalopathy due to CDKL5 gene mutation and Rett syndrome have the greatest similarity. The hallmark of Angelman syndrome are laughter attacks and specific EEG changes. The authors have presented a table of the differential diagnosis of Angelman syndrome with some phenotypically similar genetic syndromes, indicating the most significant distinguishing features, which should facilitate for the pediatrician and neurologist the diagnostic path of establishing the correct diagnosis.

Alagille syndrome is a genetic multisystem disease in which one of the key symptoms that significantly impairs quality of life is cholestatic pruritus. Until recently the only treatment opportunity was liver transplantation. In 2021 the new drug maralixibat (Marixibat) was approved and registered in the United States. This article presents the first experience of using this medication in Russia. The patient stopped itching, significantly reduced the serum bile acids and also improved physical development within 7 months of therapy. Our first experience of using maralixibat in Russia, as well as the available literature data indicates a significant improvement in the quality of life of patients and allows us to consider this drug as an alternative to liver transplantation.