In recent decades, the progressive development of medical genetics has led to significant advances in the diagnosis and therapy of hereditary pathology. As a result, the attitude of clinicians to hereditary diseases as to fatal and incurable, is gradually changing. Early dietary therapy of phenylketonuria and a number of other diseases provides full medical and social habilitation of children. Cofactor therapy, including a special vitamin therapy, is crucial in the treatment of enzymopathiessuch as: lack of biotinidase, homocystinuria, etc. Levocarnitine therapy shows high efficiency in a number of organic acidemias. A breakthrough in the treatment of lysosomal diseases should be considered the development of enzyme-substituting and substrate-reducing drugs. Further improvement of  the effectiveness of hereditary diseases treatment seems to be associated with the introduction of gene therapy methods.

The article is about the problem of anaphylaxis in the post-vaccination period. Data on the frequency of its prevalence and lethality depending on the type of vaccine are presented. Variants of a clinical picture of anaphylaxis and differential-diagnostic approaches are indicated. The major causal components of vaccines, anaphylaxis inducers, and methods for their identification are mentioned. Therapeutic approaches are analyzed, false myths and contraindications to vaccination are indicated. The experience of carrying out preventive individual measures is generalized.

Taste perception has a significant impact on the formation of human food preferences. The basics of taste perception of the child are formed under the influence of genetic polymorphism and congenital taste preferences, developing under the influence of a number of environmental factors. A significant impact on the formation of taste hasthe mother’s nutrition during pregnancy, the nature of the child’sfeeding, the baby’s health during the first year of life, as well as national and family traditions of nutrition. The article describes the mechanisms of formation of different taste sensations, summarizes the results of modern research on the genetics of taste receptors, the role of individual environmental factors in the development of food preferences. Special attention is paid to the peculiarities of the child’s nutrition during the first year of life.

The physicochemical properties of infant adapted milk formulae that affect their tolerability and effectiveness depend on the composition and quality of the raw ingredients, the production process, the storage conditions and the quality control of the finished products. The technology of manufacturing a powdered infant formula includes a variety of methodsfor processing componentsthat make up its composition, including raw milk. This processing is accompanied by a noticeable change in a number of physical, chemical and biological properties of the individual components of milk, their loss, the formation of fundamentally new chemical compounds. The most frequent reactions observed during the heat treatment of milk include the formation of bonds between reactive carbonyl groups of the sugar and the amino groups of amino acids, followed by the appearance of a large number of low- and high-molecular compounds, the so-called Maillard Reaction Products(MRP). The study of MRP in recent years hasincreasingly attracted the attention of medical practitioners because of the discovery of these compounds in infant formula and their potential danger to children’s health. This review provides evidence that powdered infant adapted formulae produced with an original technology based on whole goat milk with a native ratio of the main groups of milk proteins(whey – 20% and casein – 80%) have a minimum potential for unwanted effects associated with MRP.

The introduction of modern technologies and the widespread use of intensive care in neonatology have led to an increase in the survival rate of children, who were born deeply premature with a low, very low, and extremely low body weight. The purpose of the study: evaluation of  the peculiarities of  neuropsychic development and the frequency of  occurrence of  neuropsychiatric disorders by the age of 5-8 years in children, who were born deeply premature with extremely low, very low, and low body weight in comparison with healthy peers. We examined 122 patients aged from 5 years 0 months to 8 years 0 months, 36 were born with very low body weight, 36 with extremely low body weight, 50 with low body weight, and 30 children were included into the control group. To assess the main complaints in patients, a structured questionnaire for parents was used. To study emotional and behavioral disorders in children, T.Achenbach’s structured questionnaire for the parents was used. Results and discussion. Data from the T.Achenbach’s parents’ questionnaire indicated significantly more expressed and pronounced manifestations of isolation, psychosomatic disorders, anxiety, problems of socialization and thinking, attention disorders, problems of behavior and aggressiveness in the examined children. In the groups of the examined patients, compared with peers, were significantly higher scores on the scales of “Internalizing manifestations” and “Externalizing manifestations”. It was shown that profound prematurity and birth with extremely low, very low and low body weight are important predisposing factors for the neurodevelopmental disorders in children: autism spectrum disorders, attention deficit hyperactivity disorder, developmental dyspraxia, specific learning difficulties. Early diagnosis of these conditions determines the effectiveness of therapeutic measures with the need of individual approach and comprehensive medical-psychological-pedagogical support.

Heart rate variability values are potentially important for assessing vegetative dysfunction in children.

The purpose of the research: a comparative study of spectral heart rate variability parameters and synchronization of low-frequency oscillations, characterizing baroreflex in the vegetative regulation of the cardiovascular system in healthy newborns and adults.

15 healthy newborns and 60 healthy individuals in the age of 18-34 years old were included in the study. We performed synchronous recording of electrocardiograms and photoplethysmograms with 10 minutes duration, at rest. Were evaluated spectral heart rate variability indices and the index of synchronization of low-frequency oscillations in heart rate variability and photoplethysmograms (S index).

Results. In newborns, the peak of low-frequency oscillations was predominantly in the range 0.07–0.09 Hz, and high frequency 0.40–0.50 Hz. Newborns had lower LF% values than adults: 22.8 (14.1, 29.4) vs 32.9 (25.1, 41.9) (p=0.009). The S index in newborns was 20.1 (16.9, 26.5)%, and 33.2 (21.2, 45.4)% in healthy adults (p=0.023).

Conclusion. We have first demonstrated that the interaction of baroreflex regulation of heart rhythm and peripheral blood filling in healthy newborns is characterized by lower values of S index, than in healthy adults, which can be explained by the immaturity of the vegetative regulatory elements of the cardiovascular system. 

The purpose of the study: determination of content of circulating endothelial cellsin umbilical cord blood in orderto assessthe regenerative potential of the endothelium in newborns. 29 newborn babies were examined: 18 pre-term infants (gestational age 30–35 weeks) and 11 full-term infants (gestational age 38–41 weeks). Determination of the number of circulating endothelial cells was determined in mixed umbilical cord blood of all children their phenotyping was carried out by cytofluorometry method using fluorochromes-labeled monoclonal antibodies. Circulating endothelial cells were defined as CD45–, CD133+, VEGFR2, CD34–, endothelial progenitor cells were defined as CD45–, CD133+, VEGFR2+, CD34+. It was revealed that in umbilical cord blood of pre-term infants was decreased both the total number of circulating endothelial cells and endothelial progenitor cells compared to full-term infants. Moreover, in preterm infants was observed higher percentage of endothelial progenitor cells, rather than mature endothelial cells. In blood of full-term infants was observed higher percentage of mature endothelial cells compared to endothelial progenitor cells and their number increases with increasing birth weight of the newborn. The decrease in the number of endothelial progenitor cells in pre-term infants is associated with impaired endothelial function. CD45–CD133+VEGFR2+CD34+ cells are involved in reparation of damaged endothelium and reduction in their number in the blood reflects the reduction of its regenerative potential.

The aim of the research: to optimize the treatment strategy of cholelithiasis in infants by studying the conservative therapy and surgical treatment effectiveness.

Children with cholelithiasis were divided into three groups: 60 children received conservative treatment; 14 children were not treated; 22 children underwent cholecystectomy. Conservative treatment was carried out by administration of Ursofalk suspension (Dr. Falk Farma, Germany) on the daily dose basis – 20 mg/kg of body weight per day once a day – at bedtime. Duration of litholysis ranged from 6 to 24 months. The therapeutic effect was controlled every 3 months by ultrasound examination of the bile ducts and biochemical analysis of blood serum.

Results. Contractile function of the gallbladder normalized after 6 months, biochemical markers of cholestasis after 3 weeks, lipidogram by the end of  the second year of conservative treatment. All children tolerated therapy well. No side effects were found. No spontaneous dissolution of gallstones was observed in 14 children who did not receive litholytic therapy. In 22 children, who underwent surgery, morphological changes in the gallbladder wall were reversible, but most of them formed post-cholecystectomy syndrome. In view of the aforesaid, conservative therapy should be considered the priority method of cholelithiasis treatment in children under 3 years of age. Surgical treatment should be performed only according to vital indications. 

The purpose of the study was to investigate the effect of enteric oxygen therapy on helicobacteriosis in the rehabilitation of children with chronic gastroduodenal pathology. 286 children and adolescents aged from 6 to 15 years with chronic gastritis, duodenitis, gastroduodenitis, gastric ulcer and duodenal ulcer were examined. To study the effectiveness of  the recommended rehabilitation program, all patients were also divided into two rehabilitation groups, identical in age and clinical forms of the underlying disease. Determination of Helicobacter pylori (Hp-carrier) was performed using the breath test.

Studies have shown that after the conventional course of eradication therapy, helicobacteriosis reduced to an average of 23.6%, but was not completely cured, or reinfection was observed. After primary rehabilitation, enteric oxygen therapy in combination with a prophylactic course of eradication therapy, a decrease in the Hp-carrier ratio on average by 14.3% was observed.

It was concluded that patients with chronic gastroduodenal pathology after a course of standard treatment need rehabilitation therapy. After a comprehensive rehabilitation program there was observed a significant reduction in Hp-carrier up to 5 times, on the background of an improvement of laboratory and endoscopic test results. 

Study objective. To establish clinical and epidemiological features of intestinal amebiasis in adults and children at the present stage. A retrospective analysis of patient histories of 90 cases of intestinal amebiasisin patients aged 3 to 40 years who were on inpatient treatment in Regional Infectious Clinical Hospital named after A.M Nichogi, Astrakhan, in the period from 2014 to 2017. The diagnosis of amebiasis was confirmed by microscopy of feces, detection of antibodies by using reaction of indirect hemagglutination (RHAG) with a specific antigen, determination of DNA of the parasite by polymerase chain reaction (PCR).

Results. It was determined that the incidence of intestinal amebiasis in the Astrakhan region is sporadic with the involvement in the epidemic process of persons of working age from 18 to 40 years (75.6%) and children aged 3 to 10 years (24.6%) of organized groups living in the city. Acute intestinal amebiasis in 86.8% of adults proceeded in mild to moderate form. The clinical course of the disease was characterized by a gradual onset in 82.4%, mucosal-bloody stool in 94.1%, the outcome of a chronic recurrent form in 11.8%. Raspberry jelly-like stool, extraintestinal complications of amebiasis, characteristic of amebiasis of previous years, were absent.

The features of intestinal amebiasis in children were: acute onset of the disease in 63.6%, fever 38°C and above in 54.5%, abdominal pain in 95.5%, prolonged diarrhoea with a stool frequency of more than 10 times in 72.7%, stool with blood mucus in 95.5%, tenesmus in 36.4%, dehydration in 18.6% of patients. The mild form of  the disease in children was not observed, severe was observed in 54.5%, moderate in 45.5%. The combined course of intestinal amebiasis with bacterial dysentery, proceeded more severely, changed clinical symptoms of the disease, made it difficult to diagnose amebiasis in a timely manner. 

Тhe article provides an overview of modern methods of assessing the respiratory function in children taking into account their age peculiarities. The emphasis is made on high-precision ultrasonic spirometry, evaluation of static pulmonary volumes and determination of the ventilation inhomogeneity index by means of nitrogen washout with oxygen compared to the traditionally used methods. Authors’ own results of approbation of these test methods are presented and their comparative assessment is provided.

We studied the frequency of occurrence and concentration of allergen-specific IgE antibodies (asIgE) to enterotoxins A, B, C and TSST-1 of Staphylococcus aureus and Malassezia spp. in the serum of children with atopic dermatitis in the acute period of the disease. The determination of asIgE levels was performed in 84 children aged from 5 months to 17 years using the immunochemiluminescent method on the UniCAP 100 analyzer (Phadia, Sweden). The level of asIgE was evaluated on a scale of 6 classes.

The sensitization to S. aureus enterotoxins was detected in 29 children with аsIgE concentration from 0.35 to 25.8 kU/L (I–IV classes). In 16 children were observed 8 polysensitization options to S. aureus allergens. Combinations of asIgE to A + B and A + B + C enterotoxins were most common – in every fourth and fifth child,respectively. Sensitization to Malassezia spp. was observed in 41 children with concentration from 0.38 to 98.9 KU/L (I–V classes). Polysensitization to both S. aureus and Malassezia spp. allergens was observed in one of two children. A higher degree of sensitisation to Malassezia spp allergens has been established compared to S. aureus.

Conclusion. To improve the specific diagnostics of atopic dermatitis, it is advisable to examine the serum for a complete panel of recombinant S. aureus enterotoxins in combination with the determination of asIgE to Malassezia spp. 

The severity of burns depends both on their size and depth of affected tissues. The existing simple methods for estimation of the injured skin area are not precise, especially in children. During last decades, attempts were made to employ information technologies for more precise estimation of the skin area affected by the burn. Usually, a special template («skitsa») is used to represent a human body in a schematic way, allowing automatic calculation of affected area with high accuracy. It is especially important in children, since proportions of their bodies vary greatly at different ages.

A computer graphic tool for estimation of area of burns was designed for the Department of Pediatric Burns. It uses an algorithm that allows to adjust burn data displayed on a two-dimensional template, taking into account the three-dimensional nature of the human body. Such correction increases burn area estimation accuracy. Additionally, this system allows using digital photographs of burn area for dynamic assessment of skin condition during treatment. A special algorithm is used to compensate for possible color distortions of the photographs in series, enabling better possibility of patient’s skin condition comparison at different times. 

Provision of medicinal productsto children with orphan diseasesis an urgent problem, because itssolution involves medical and social issues. The aim of this work was to study the social and economic aspects of provision of medicinal products to children with orphan diseases in the Rostov region.

In the regional segment of the Federal Register of patients with orphan diseases, patients under the age of 18 years represent over 65% (rate of increase 76.6%), one in two patients has a disability. Structure of nosological forms of orphan diseases of patients under the age of 18 years has been determined. An analysis of the cost of pathogenetic therapy of patients with orphan diseases allowed to establish the top-5 most financially costly nosologies. Given the peculiarity of pathogenetic therapy of orphan disease and special conditions of  the administration of medicines, the need for redistribution of financing aid and additional attraction of CHI funds has been shown. It has been established that orphan diseases may not be included in the clinical and statistical groups together with other nosologies, not related to the orphan ones. When determining the estimated cost of medical care and medicinal therapy, it is necessary to form independent clinical and statistical groups for each orphan disease and develop indicators, characterizing clinical resources. Discussed the need for the social adaptation of children with orphan diseases. 

Objective: to estimate the prevalence and clinical-epidemiological features of acute respiratory infections of various etiology in children of the first three years of life, hospitalized to the intensive care unit of a children’sinfectious hospital.

150 children of the first three years of life of the total number of patients, hospitalized to the intensive care unit of the Republican Clinical Infectious Diseases Hospital of Kazan with a severe ARI, were randomly selected. The design of the research was consistent with the observational analytic.

Results: the etiology of  ARI was interpreted in  74% (95% CI 67–81), 111/150 cases. Rhinovirus infection is the main cause of development of severe forms of ARI in young children; in second place – influenza viruses – 13.9-28.7% in different age groups. Clinically significant in all age groups were respiratory syncitial viruses (7.1–16.7%), in children up to one year – parainfluenza viruses (13.9% (95% CI 6–21.8), 10/72, and in  patients older than 2 years  – adenoviruses (12–14.2%). Seasonal rise in  the incidence of ARI was noted in the cold season. It was caused by influenza viruses, respiratory syncitial viruses, parainfluenza viruses. In the summer months, the rhino-, metapneumo- and adenoviruses were most common. The expressed general toxic effects that caused hospitalization were recorded in 66% (95% CI 58.4–73.6), 99/150 of the examined patients, manifestations of respiratory failure was detected in 58% (95% CI 50.1–65.9), 87/150.

Conclusions: the leading causes of development of  severe forms of ARI in young children are rhinoviruses, influenza viruses and the respiratory syncitial virus. They are associated with: respiratory tract diseases with respiratory failure, a symptom complex of  toxicosis. Previously thought «harmless», rhinovirus infection is becoming a leader in  the range of  causes of  severe forms of respiratory infections in young children. 

Objective. To assess the value of X-ray computer tomography with intravenous contrast agents and magnetic resonance imaging for diagnosis of aortic malformations in children of the Crimean region at the stage of preoperative preparation, choice of surgical procedure and postoperative follow-up. In the Republican Children’s Clinical Hospital (Simferopol) under our supervision were 44 children with aortic pathology, who underwent cardiac surgery. All children underwent dopplerography of head and neck vessels, xray computer tomography with intravenous contrast and/or magnetic resonance imaging.

Results. Modern approaches to the visualization diagnosis of critical congenital heart defects in children are presented. The role of X-ray computer tomography with intravenous contrast agents and magnetic resonance imaging in the diagnosis of congenital aortic pathologies has been shown and a qualitative assessment of CT angiographic picture of aortic pathology was performed. This applies to the detailing of the defect anatomy, reliable morphometric indicators, diagnosis of pathology of aorta, pulmonary artery, right ventricle to assess ventricular-arterial connections and atrioventricular connections, as well as the assessment of the state of the vessels of the pulmonary circulation, bronchial tree and lung parenchyma. Our experience of using x-ray computer tomography and/ or magnetic resonance imaging in examining children with aortic pathology proves that these methods can provide more valuable diagnostic information than traditional methods, which determines their significance. 

The data on the effectiveness of  the use of  medicinal products, aimed at increasing the antibacterial resistance of  the urinary tract («therapeutic vaccines», immunotropic medications), as well asthe minimization of pathological processes(inflammation, oxidative stress) as a result of exposure to infectious microorganisms are presented. Brief information is given on the possibility of slowing nephrosclerotic processes using angiotensin converting enzyme inhibitors, as well as on the prospects of renoprotection on experimental models.

Solid tumors in children occupy the second place in the structure of morbidity, yielding to hemoblastosis. Among solid tumors, approximately 5% are bone sarcomas: osteosarcoma (3%) and Ewing’s sarcoma (2%). Atypicality of  the course of  these diseases makes it difficult to diagnose them early. The article describes a series of clinical observations of patients with bone sarcomas, which illustrate the complexity of diagnosing diseases of this group.

It was noted that during 25 years of scientific and teaching activity N. F. Filatov has made a significant contribution to the development of world Pediatrics. He is the author of over 70 scientific works, including «A short textbook of pediatric diseases» (1893), that was published in 12 editions, and «Clinical lectures» (1900). His monograph «Lectures on acute infectious diseases» (1885) was published in 4 editions, «Semiotics and diagnosis of childhood diseases» (1890) – 9 editions, it istranslated into German, Czech, Italian, Hungarian and French. Many generations of pediatricians have studied on N.F. Filatov’s monographs and manuals. He described the infectious disease named Filatov scarlatinal rubella. Later it was described by the British physician Dukes; one of the presently used names of the disease is Filatov-Dukes disease. In the first edition of «Lectures on infectious diseases» N. F. Filatov described not known until that time infectious mononucleosis, which he called idiopathic inflammation of the cervical lymphatic nodes. The disease is now often called the Filatov’s disease. In 1895 N. F. Filatov, described an important diagnostic sign of measles – the appearance in the catarrhal period of illness of grayish-white lesions on the mucose membrane of lips and cheeks 1–2 days prior to the appearance of rash. As was established later, this sign was first described by A. P. Belsky in 1890, then, independently, by N.F. Filatov, and in 1896 by Koplik. In the literature, this symptom is known as Belsky-Filatov-Koplik spots. N.F. Filatov described the pathogenesis of some forms of oedema syndrome in children, published works on prolonged afebrile forms of the flu. N.F. Filatov was developing a clinical-physiological direction in Pediatrics. He created a large school of native pediatricians. Among his students were famous pediatricians V.I. Molchanov and G.N. Speransky.