The term “personalized medicine” appeared only 20 years ago, but individual approaches to the therapy were known for more than a hundred years. The genome decoding and development of pharmacogenetics in recent decades have opened up new ways for the development of medicine and a new understanding of the concept of “personalized medicine”. The article uses the example of nephrological diseases (Denis–Drash syndrome, Freiser syndrome, hypophosphatemic rickets, nephrotic syndrome) to demonstrate the importance of molecular genetic examination and to improve the effectiveness of treatment and, most importantly, to prevent iatrogenic side effects of the therapy. The example of glucocorticoid therapy of children with nephrotic syndrome is used to demonstrate the importance of studying certain genetic factors that affect the individual pharmacodynamic and pharmacokinetic profile of glucocorticosteroids.

Sudden Infant Death Syndrome (SIDS) is an unexpected non-violent death of an apparently healthy child in the first year of life, with no rational explanations for the death cause, anamnesis and pathomorphological studies. Risk factors of SIDS are divided into two main groups – modifiable and non-modifiable. Modifiable risk factors include: sleeping in the prone position, infant and adult sleeping together, tobacco smoke, soft bedding, and prematurity. Non-modifiable risk factors include: vulnerability due to morphofunctional dismaturity; critical period of lifespan development; exogenous stress factor. The cumulative impact of all non-modifiable risk factors was used to develop a «triple risk» model.

Today, the majority of modern concepts of the sudden infant death syndrome pathogenesis are based on genetic mechanisms. The main hypotheses of thanatogenesis in SIDS are congenital metabolic defects, immunologic incompetence, serotonergic dysfunction, SIDS-critical diaphragmatic failure, cardiogenic mechanisms. The main success in reducing the SIDS rate has been achieved by controlling modifiable risk factors underlying the syndrome development.

Neonatal thrombosis occurs in 2.4–7% of newborns, more than half of them are premature. The syndrome is characterized by limb edema, pain syndrome, hyperthermia of the extremities, abdominal effusion, hematuria and other symptoms. Both the physiological characteristics of the hemostasis system of the newborn, and the state of health of the mother and external factors are considered the causes of neonatal thrombosis. For the moment thrombolytic therapy, heparins and, in critical cases, thrombectomy are used to treat neonatal thrombosis. Particular attention is paid to drugs which have a positive effect in the treatment of adults, such as dabigatran, danaparoid, hirudin, argatroban, apixaban, rivaroxaban and sodium fondaparinux. Development of convenient forms of anticoagulants, determination of age- and weight-dependent doses, study of the effect of thrombolytic drugs used in adult practice on the newborn’s body, as well as confirmation of the effectiveness of the recombinant tissue plasminogen activator – these are the questions that need to be resolved to reduce the risk of developing neonatal blood clots and their severe consequences.

Life-threatening exacerbation of bronchial asthma can occur in patients with any severity of the disease. The selection of predictors of a fatal condition can help to identify the groups with high-risk of asthmatic status development. For the moment the traditional intensive care for asthmatic status has been supplemented with innovative approaches in respiratory support, bronchodilator therapy, and basic support for the patients after life-threatening asthma. The predictors of life-threatening bronchial asthma include rhinovirus infection, severe exacerbation in the anamnesis, fungal sensitization and age of patients. This condition increases the risk of repeated life-threatening exacerbations by 25%, and it requires a special approach to therapy and monitoring of patients at the outpatient stage. This review draws attention to modern approaches to the treatment of such patients in order to unify the management of children with asthmatic status in the Russian Federation.

The article presents modern data on the use of probiotic and prebiotic drugs to prevent the formation of secondary hyperoxaluria in children. The authors analyzed the literature data and generalized the available results of original studies on the use of probiotics and prebiotics to prevent the development and to reduce the laboratory manifestations of secondary hyperoxaluria by improving the state of the intestinal microflora involved in the degradation of oxalates. They demonstrated the ability of Oxalobacter formigenes, Lactobacillus spp. и Bifidobacterium spp. bacteria to participate in the metabolism of oxalates, to reduce the excretion of oxalates with the urine, thereby reducing the laboratory manifestations of secondary hyperoxaluria. The article shows the therapeutic correction of the disease by improving the state of the intestinal microflora with both probiotic preparations containing Lactobacillus spp. and Bifidobacterium spp. strains and prebiotic agents. The drugs that normalize the state of the intestinal microflora (probiotics and prebiotics) help to rationalize the management of patients with secondary hyperoxaluria and to reduce the manifestations of secondary hyperoxaluria.

The assessment of the cardiac function of the fetus and hemodynamic stabilization of the newborn in the postnatal period is one of the most important tasks of modern perinatology. Understanding the pathophysiological mechanisms, the basis of the myocardial dysfunction in both the fetus and the newborn, can help to develop preventive measures and change the therapeutic approach to this category of children. This review highlights the problems of the disruption of the mechanisms of interregulation in the fetal heart and placenta, as well as the diagnostic possibilities of modern biomarkers of cardiovascular dysfunction – troponins, N-terminal precursor of brain natriuretic peptide and soluble type 2 tumor suppressor – in fetal and newborn.

Objective. To formulate the main theoretical and methodological approaches to the content and assessment of the economic potential of the assisted reproductive technologies (ART) in a particular region in order to forecast the demand, budget and extra-budgetary funding for this medical service in the medium term.

Material and methods. The study uses the system and comparative analysis, content analysis, methods of generalization, deduction and induction, economic and statistical methods of data processing.

Results. The analysis showed an increase in the availability of ART performed at the expense of Compulsory Medical Insurance Fund (CMIF) for families with infertility. Despite the negative dynamics of indicators of natural movement of the population in the region, there is an increase in the birth rate due to reproductive technologies. To calculate the contribution of the ART for the health of children born using reproductive techniques to the economic potential it is necessary to obtain data from the Territorial Compulsory Health Insurance Fund (TCHIF) of Sverdlovsk region on the insured women who underwent the procedure, cases of medical assistance to a child with the conditions of assistance, a diagnosis according to ICD-10, name of the services and the actual and expert payment.

Conclusion. Taking into account the emerging global challenges, current environmental situation and increasing role of innovative technologies in health care, we should substantiate the concept and indicators of the economic potential of assisted reproductive technologies from the point of view of their practical application in regulation of reproductive and social processes in the region

In order to assess the immunity indicators of early premature children born in the period from 22 to 27 weeks the researchers conducted a dynamic examination of 24 newborns: 11 children with severe bronchopulmonary dysplasia (Group 1) and 13 children without bronchopulmonary dysplasia (Group 2). They used flow cytometry to determine monocyte counts (CD14+CD64+, CD14+HLA-DR+, CD11b+CD14+).

The authors determined the peculiarities of the immune status of children with severe bronchopulmonary dysplasia. They found that the spectrum of monocyte-macrophage protection factors of the children with extremely low body weight was significantly reduced due to a decrease in cell adhesion and migration of the (CD14+CD64+) cells to the inflammation site, as well as the presentation of infectious pathogens – viruses or bacteria (CD14+HLA-DR+), which may be the reason for the development of bacterial complications and prolonged course of the inflammatory process, one of the main factors in the development of severe bronchopulmonary dysplasia.

The revealed features of the immune status in infants with bronchopulmonary dysplasia can be used to evaluate the effectiveness of the therapy, which dictates the need for further studies.

Persistent diarrhea can be a sign of a number of medical conditions, including a gastrointestinal food allergy. Diagnosis in childhood is not very informative, since allergic diseases at this age often have a non-IgE-dependent mechanism of development.
Objective. To study the diagnostic value of the fecal eosinophilic neurotoxin test for the diagnosis of gastrointestinal food allergy in young children with persistent diarrhea.

Material and methods. The authors examined 70 young children (from 1 month to 3 years) with persistent diarrhea and 20 conditionally healthy children of the same age without burdened allergic background. They determined fecal eosinophilic neurotoxin levels in all children. The children were divided into 2 groups according to the results of this examination: Group with normal level of neurotoxin and Group with increased level of neurotoxin.

Results. The physical development of children with persistent diarrhea with high levels of eosinophilic neurotoxin is often assessed as low or very low. With persistent diarrhea, blood and mucus in the stool was significantly more often detected in children with a high level of eosinophilic neurotoxin. Persistent diarrhea with an increased level of eosinophilic neurotoxin, was significantly more often combined with atopic dermatitis reflecting its allergic nature.

The total IgE test turned out to be a highly specific marker of the allergic nature of persistent diarrhea, however, it has a low sensitivity and it is positive only in 26.3% of children with an increased eosinophilic neurotoxin. This fact confirms the non-IgE dependent pathogenetic mechanisms of gastrointestinal allergy.
Conclusion: The study demonstrated a high differential diagnostic value of the eosinophilic neurotoxin test in the feces of children with persistent diarrhea. The authors revealed a statistical interconnection of a high level of eosinophilic neurotoxin and other markers of allergy. The results obtained substantiate the advisability of the eosinophilic neurotoxin test as a non-invasive method in the diagnosis of gastrointestinal food allergy.

Objective. To estimate frequency of overweight, obesity, high blood pressure and hypercholesterolemia in children and adolescents – visitors of health centers.

Material and methods. In a cross-sectional retrospective study there were analyzed different data: height, weight, arterial pressure, total cholesterol level in blood samples of 70.001 children (36.097 boys) aged 6–17 years from 17 regions of Russia. Overweight and obesity were determined by the WHO`s diagnostic criteria, z-score tables of body mass index, taking into account gender and age. Hypercholesterolemia was diagnosed as total cholesterol level > 5,2 mmol/l, high blood pressure as systolic and/or diastolic blood pressure > 95‰ of blood pressure curve in the population with the corresponding age, gender and height.

Results. Frequency of overweight, obesity, high blood pressure and hypercholesterolemia were 18.2%, 6.9%, 5.2% and 3.0% in boys and 15.9%, 5.3%, 4.8% and 4.1% in girls. Frequency of hypercholesterolemia exceeded standard values in 17 regions of Russian Federation (3.5%), in Perm Territory (18.8%), Chuvash Republic (6.9%) and Vladimir Region (8.5%). The maximum frequency of overweight and obesity was observed in the Perm Territory – 39.1% and 17.1%. Frequency of high blood pressure exceeded average values in 17 regions of Russian Federation (4.9%) twice – in Voronezh Region (10.6%) and three times in Khanty-Mansyisk–Yugra Region (15.2%). Conclusion. This data confirm the necessity of prevention intensification of cardiovascular disease, life-style modification and food habits in those regions of Russia with high frequency of cardiovascular risk factors in children and adolescents.

The article presents the results of assessing the content of vitamin D in children and adolescents under 18 years old (n=1501) in Moscow and the Moscow region, the average age was 13.45±11.76 years (Me 15.00 years). The optimal level of 25(OH)D₃ was found in every fifth (18.7%) child. Deficiency of vitamin D is observed in every third examined child (455 children, 30.3%). A moderate deficiency of calcidiol is recorded in almost every second child (673 children, 43.8%). 7.2% of children had a severe deficiency of 25(OH)D₃. Low level of 25(OH)D₃ is recorded throughout all seasons of the year.

Objective. To create a computer support system for pre-laboratory diagnosis of hereditary metabolic diseases with mental pathology.

Material and methods. The authors used numerous literary sources to extract data for intelligent system. The initially formed database was supplemented by expert assessments for certain categories of age groups of children.

Results. The experts determined the modality, confidence factors for the timing of manifestation and severity of signs for each clinical form at certain age periods. In the course of the study the authors built the models for a comprehensive assessment of signs and an integral assessment of diseases. The diagnostic algorithm is included in the database. It is used to compare the proposed hypotheses. The authors implemented a prototype of an expert diagnostic system based on a mucopolysaccharidosis model, which demonstrated 90% efficiency in a control sample of 20 patients.

Objective. To analyze the relationship of individual components of the child-parent emotional interaction between the mothers and the first child of early age with their attitude to the implementation of parental tasks related to the child’s sleep.
The subject of the article is the features of the child-parent emotional interaction between the mothers and the first child of early age in the context of the organization of the child’s sleep by parents.

Material and methods. A comprehensive questionnaire for sleep disorders in infants and young children by E. S. Tarasenko (contracted version); a questionnaire for child-parent emotional interaction by E. I. Zakharova

Results. There is a relationship between high sensitivity to the signals of the child and the increased anxiety of the mother. Mothers with low scores on the «Prevailing Emotional Background» scale were more likely than others (87%) to have complaints about their children’s sleep. Problems with the organization of the child’s sleep were experienced by mothers with low or average indicators on the scale of «Orientation to the child’s state when building interaction».

Conclusion. Child-parent interaction is an important part of the relationship between family members, and they are characterized by the nature of continuity, prolongation and dependence on the state (both physiological and emotional) of each of the subjects of this interaction (in our case, mother and child), and the condition itself (in particular, physical and psychological indicators) directly depends on the sufficiency and quality of sleep.

Scope of application. The emotional state of the mother and the degree of involvement can significantly help parents in organizing the sleep of the whole family, provided that the parent has a dosed influence on the organization of the child’s sleep. The results of the study will be useful for specialists working with the families and children: doctors (pediatricians, neurologists and somnologists), psychologists and consultants on children’s sleep.

Hereditary connective tissue diseases are among the most common genetic syndromes. In most cases the studies of children with Ehlers–Danlos syndrome are devoted to the clinical manifestations of the disease. Insufficient information on the features of emotional, personal, and behavioral spheres in this category of children creates the need to perform targeted psychological research.

Objective. To study the features of the emotional and personal sphere in adolescents with Ehlers–Danlos syndrome of 12–16 years old.

Material and methods. The study involved 24 boys and 22 girls from 12 to 18 years old with a clinical diagnosis of Ehlers–Danlos syndrome. The study used multidirectional diagnostic methods of emotional, personal and behavioral spheres.

Results. The emotional features of adolescents with Ehlers–Danlos syndrome are manifested in the form of depressive, anxiety states, which are associated with frustrated needs for self-affirmation. The study revealed the heterogeneity and originality of the picture of emotional and personal characteristics of patients with Ehlers–Danlos syndrome. The degree of awareness of the individual characteristics of a teenager affects the personal development of the child as a whole.

Acute leukemia accounts for 30% of malignant neoplasms in children in Russia. Down’s syndrome (trisomy of chromosome 21) is considered one of the strongest predictors of acute leukemia. Genetic abnormalities in patients with Down syndrome are strategically important for treatment approaches, metabolism of certain drugs, and sensitivity of blast cells to chemotherapy.
The article describes three clinical cases of patients with acute lymphoblastic leukemia with Down’s syndrome who developed severe complications requiring correction of the dosage of chemotherapy.

This cohort of patients is at high risk for the development of hematological, metabolic and infectious complications that require individualization of regimens and dosage of chemotherapy drugs.

Behcet-like familial autoinflammatory syndrome is a rare autoinflammatory disease with an autosomal dominant mode of inheritance, which is based on heterozygous mutations in the TNFAIP3 gene. It is characterized by recurrent fever, recurrent oral-genital ulcers. Currently, only few patients with this disease are described in the world literature. The clinical case presented in the article demonstrates a new mixed phenotype of pathology in the form of a combination of symptoms resembling Behcet’s disease and autoimmune lymphoproliferative syndrome. It allows us to enrich our knowledge about the genetic nature of autoinflammatory familial Behcet-like syndrome, and indicates the need to more active use of molecular genetic research methods in the differential diagnosis of these diseases.

Celiac disease is a chronic immune-mediated disease caused by dietary gluten in genetically predisposed individuals. Dysbiotic changes in the intestinal microbiota contribute to a loss of gluten tolerance and an increase in the intestinal permeability of the barrier, thus contributing to the pathogenesis of celiac disease. Taxonomic dysbiosis in celiac disease is characterized by a decrease in probiotic (anti-inflammatory) bacteria such as Bifidobacterium spp., Lactobacillus spp. and Faecalibacterium prausnitzii and an increase in proinflammatory bacteria such as Bacteroides spp., Escherichia coli, Staphylococcus spp. Functional (metabolic) dysbiosis is characterized by reduced short-chain fatty acids, especially butyrate, in feces and by a significant increase in the microbial metabolites in the blood and urine of patients with celiac disease. The study of the functional activity of the intestinal microbiota will contribute to novel therapeutic approaches in management of patients with celiac disease.

Peutz–Jeghers' syndrome is a rare hereditary disease inherited by an autosomal dominant type, manifested by a characteristic clinical picture of skin lesions and hamartomas of the gastrointestinal tract. Complications of the disease include bleeding from polyps, anemia, intussusception and intestinal necrosis, as well as a high likelihood of developing malignant tumors. For the first time the syndrome was described at the beginning of the last century, and it is of interest to dermatologists, gastroenterologists, oncologists and surgeons due to the clinical heterogeneity of intestinal and skin manifestations.

The article describes a clinical case of a 5-year-old girl with the Peutz–Jaegers syndrome. The patient complained of periodic dull abdominal pain that worsened after eating solid food. During the examination of the skin and mucous membranes the doctors discovered rashes on the face: perioral area, on the red border of the lips and on the mucous membrane of the lips, inside the cheeks, hard palate. Esophagogastroduodenoscopy (EGDS) revealed a polyp on a pedicle in the prepyloric part – it was removed during repeated EGDS under endotracheal anesthesia. Fibrocolonoscopy revealed hyperpigmentation of the dome of the cecum. To confirm the diagnosis, the doctors carried out DNA testing which found a mutation of the STK11 gene.

Pigmentation of the perioral area is an early symptom of Peutz–Jeghers' syndrome suggesting optimal examination. Early recognition of the syndrome in children is important in the context of reducing the risk of developing intestinal obstruction, bleeding, and cancer complications in the future.

Diaper dermatitis is a common disease in children under 2 years of age; its prevention is based on proper care, hygiene, frequent diaper changes, aeration, gentle skin cleansing and the optimal choice of cosmetics. The authors conducted an observational study to investigate the effect of Dexpan Plus® Baby cream in newborns and infants to prevent diaper-induced irritation and redness of the skin. Dexpan Plus® Baby Cream was applied to clean and dry skin in the groin area with each diaper change for 30 days. The study included 30 children from 3 to 12 months old with skin phototypes I – III according to the Fitzpatrick scale. When caring for children, their parents regularly used disposable diapers (at least 5 times at the daytime and 2 times at night).

According to the results of the study, 93.3% of children had no diaper dermatitis on the diaper dermatitis scale. According to the assessment of doctors and parents, 100% of children had “good” and “very good” tolerance with regular use of the cream. Dexpan Plus® Baby Cream has been shown to be safe and it can be recommended for newborns and infants to prevent diaper-induced irritation and redness of the skin. Parents were satisfied with the cream, at the final visit 100% of parents positively assessed the cosmetic effects of the cream, they fully agreed that the cream was suitable for sensitive skin of a child, it softened the skin, had a protective effect against redness and moisturizing effect, the cream was easy to apply; 93% of parents completely agreed with the statement that the cream reduced skin redness.