The article considers the key problems of the transition of the national health system to a new platform of personalized medicine and,  in particular, pediatrics. In the second part, published in this issue, the main mechanisms for building a new model are analyzed. The main  prerequisites (financial and economic, fundamental research and applied research), the emergence and construction in the structure  of global trends in the development of health care markets, actualized at the end of the last century, are presented. It is indicated  that one of the main incentives for the development of personalized medicine is a noticeable increase in individual and social demand  for preventive drugs and the corresponding tools. The development of programs for managing their own health is gaining in importance,  and new business-development models (including public and private partnerships) are being developed and implemented. The evidence  is examined that a progressive scenario for the development of a model of personalized medicine will provide a significant reduction  in the cost of medical care. A large section of the article is devoted to the development of the provision that the understanding and awareness of the importance of the protection and management of one's own health by a modern state, medical audience and individual citizen  is the most important aspect of the educational and educational activities of a doctor and a nurse. The perspectives of personalized  pediatrics as a global instrument for restructuring the entire healthcare system are considered in detail.

 

 

Research objective: to study the clinical and biochemical risk factors and markers for the formation of tubulointerstitial nephritis  in children with oxalate-calcium crystalluria. Methods: 30 children with tubulointerstitial nephritis were examined on a background  of oxalate-calcium crystalluria. Special clinical and laboratory methods of research were used: stable metabolites of nitric oxide-nitrites and activity of superoxide dismutase, albumin in urine were determined in erythrocytes and urine. To determine the clinical  features of the course and identify risk factors for the development of tubulointerstitial nephritis, we analyzed: perinatal and genealogical anamnesis, the age of debut of oxalate-calcium crystalluria and tubulointerstitial nephritis, and ultrasound data from the organs  of the urinary system. Results: In children with tubulointerstitial nephritis, in 22% of cases the signs of oxalate-calcium crystal-luria preceded the underlying disease. For tubulointerstitial nephritis, which occurred against the background of metabolic disturbances, whose debut occurred at an early age, a latent course is typical, and minimal tubular kidney dysfunction, formed at the age  of 4–11 years. The following clinical and anamnestic factors had the greatest impact on the formation of tubulointerstitial nephritis  from a single-factor analysis: a family history with family history and the presence of 2 degrees of kinship of urolithiasis, a threat of termination of pregnancy and gestosis of the first half of pregnancy, hyperechoic inclusions in the renal parenchyma by ultrasound examination of child. In parallel with the processes of antioxidant protection against the background of oxidative stress, there is an increase in the level of metabolites of nitric oxide in the urine, and in combination with albuminuria, an increase in endothelial dysfunction. Conclusion: the leading factors in the formation of tubulointerstitial nephritis in children with oxalate-calcium crystalluria are an  aggravated genealogical anamnesis due to the presence of urolithiasis in relatives of the first and second degree of kinship. According to the results of special research methods, albuminuria, low activity of superoxide dismutase in the urine, higher levels of nitric  oxide in erythrocytes and urine indicate the progression of tubulointerstitial nephritis and are markers of the inflammatory process.

To study the immune manifestations of the interferon-lambda 3 genepolymorphism in chronic viral hepatitis C, 110 Russian children (54 girls and 56 boys) with chronic HCV infection aged from 3 to 17 years were examined. All children were on combined therapy (pegylated interferon + ribavirin). It was found that among the studied polymorphic variants of the IFN-λ 3 gene in children with chronic HCV infection, T allele of the marker rs12979860 is associated with infection and chronization of HCV. The T/T rs12979860 genotype of the IFN-λ3 gene is unfavorable for the course of chronic HCV infection due to low levels of activated T-lymphocytes, intactness of the proinflammatory cytokines TNF-α, IL-6, IL-1α, and interferon-γ inducible protein IP-10. The revealed relation of the polymorphic variants of C/C + C/T locus rs12979860 of INF-λ3 gene with the expression of activated T-lymphocytes discloses the protective nature of these genotypes to the development of chronic HCV infection in children.

 

Morbidity and mortality, like a frequency of long-term unfavourable psychomotor developmental outcomes is in inverse relationship with gestational age and birth weight. Now scientists give attention to the risk factors — the infection, preeclampsia, smoking, etc., to look for prevention of premature birth. The outcome of premature baby depends on the birth weight; the methodof labor and the hospital technical support also have an influence. The frequency of neurological impairments — infantile cerebral palsy, visual and hearing disorders, and probability of severe bronchopulmonary dysplasia are also in inverse relationship with gestational age and birth weight. Last decade there are many scientists give attention to the cognitive deficit and behavior disorders in adolescents, born premature. Premature infants with extremely low birth weight have developmental disorders at 8-13%. Not all of cognitive and behavioral problems have symptoms in the first years of life, but have delayed unfavourable effects. The severity of cognitive deficit not always corresponds with structural impairments of brain, detected in functional studies of premature baby in the first year of life.

 

 

Classification of blood pressure in children and adolescents, features of renovascular hypertension and renal parenchymal hypertension in children and adolescents. Mid-aortic syndrome is characterized by the narroving of the abdominal aorta and bilateral renal artery stenosis. In the article are discussed diagnosis renal arterial hypertension and the defeat of target-organs in children and adolescents.

 

Based on the complex clinical and anamnestic, laboratory, instrumental examination, a number of aspects of the health status of children born in the outcome of physiologically occurring and complicated pregnancies in practically healthy mothers (including delayed development of the fetus and without it), as well as in mothers with aggravated somatic and gynecological anamnesis. The intrauterine growth retardation was associated with cerebral ischaemia of I-II degrees of severity, toxic erythema, polycythemia, hypoglycaemia, prolapse of the anterior mitral valve leaf, limited and less sympathetic activity, tension of depleted compensatory resources, acceleration of atrio-ventricular conduction, lower frequency of contractile and impaired relaxation functions of the myocardium. As a result of the work, the criteria for early diagnosis of health disorders in term infants with intrauterine growth retardation were determined. The features of the course of the early neonatal period of life, adaptation, and the state of the vegetative nervous and cardiovascular systems are proved.

 

 

The purpose of the study was to evaluate the physical development of children born in families burdened with repeated miscarriages. The main group is consisted of 210 children of whom 153 children were prospected, born in families with repeated miscarriage as a result of complex treatment with lymphocytotherapy - subgroup A of the main group. Subgroup B of the main group was formed as a result of retrospectively examined 57 children born in families with repeated miscarriage, mothers receiving only medical treatment. The comparison group consisted of 199 children born in families without a history of reproductive losses. According to the results of the multilateral statistical analysis, it is established that the indices of physical development (weight and length of the body) of both unresolved and full-term children born in families with repeated miscarriage are basically consistent with population data according to the age of gestation. At the same time, in the case of pregnant women only medical therapy, the parameters of mass and body length of full-term newborns exceed the data recorded in the population.

 

Research objective: to study the characteristics of the perinatal status and health indicators of preterm infants born to the term of gestation, depending on the gestational age. 73 preterm infants born to the term of gestation were examined. The observation group (n=21) is a “moderately prererm” with a median gestation period of 33 weeks (32; 34), a comparison group (n=52) — “late” prematurity with a median gestation period of 35 weeks (35; 36). The course of the antenatal, intranatal and neonatal period was evaluated. Results: Perinatal outcomes were determined by gestational age. Preterm infants classified as moderately preterm had more severe health outcomes with a high incidence of intranatal asphyxia, metabolic disadaptation, respiratory disorders, hypoxic intracranial hemorrhages, anemia. However, “late” preterm represent a high-risk group for adverse perinatal outcomes and no less attention to neonatology. Conclusion: The delay in intrauterine development in premature infants is due to a complex of unfavorable perinatal factors and is associated with a high incidence of clinical and metabolic disturbances of postnatal adaptation, neonatal diseases, whose nature is determined by gestational age.

 

 

Familial hypercholesterolemia remains a little-known disease in pediatric clinical practice, leading to late diagnosis and late initiation of therapy for this prognostically extremely unfavorable disease. The article presents modern ideas about etiology, genetic aspects. The diagnostic criteria and modern approaches to treatment are presented. The main clinical manifestations of the disease are cutaneous and tendon xanthomas, arcus lipoides of the cornea, generalized atherosclerosis of the coronary, brachiocephalic and femoral arteries. The consequence of these changes is the occurrence already in childhood of coronary heart disease and myocardial infarction. Effective lipid-lowering therapy was demonstrated in a child with homozygous hypercholesterolemia (2 mutations in the compound homozygous state in the LDLR gene). At the first stage, the child received combined therapy with statins (rosuvastatin in combination with ezetrol). The connection of the third drug, a type 9 inhibitor of proproteinconvertase, reduced the level of low-density lipoprotein cholesterol by another 15%, which was accompanied by regression of xanthomas. No adverse effects of therapy were observed.

 

 

Last years in children we observe high frequency of diseases, associated with focal central nervous system damage by infectious, autoimmune and congenital process. Very often the process occurs in children of early age as a result of recurrent and congenital (chronical) infections. Differential diagnosis of demyelinative central nervous system disease can be difficult, so we report about the case of progredient X-associated adrenoleucodystrophy in 4-year-old child, case was verified genetically. We suppose differential diagnostics with genetically-associated exchange disorders (and myelinization disorders) in all cases of progredient disease with lose of skills and abilities, convulsive syndrome progression on the background trigger somatic or infectious pathology, progressive diffuse brain demyelination and increasing of atrophic processes without inflammatory signs in cerebrospinal fluid, differential diagnosis with genetically determined disorders of metabolism in children of all age groups. We also insist on a therapy while making differential diagnosis. We suggest the diagnosis for the therapy start is encephalitis or congenital central nervous system infection. In such cases we can start causal therapy (antiviral or antibacterial), antiinflamatory, antioxidant therapy, metabolical therapy, respiratory support to make the situation stable.

The article presents modern views on the problem of hereditary progressive pathology: phakomatosis, including neurofibromatosis as the most common in the population of the neurocutaneous syndrome. The main clinical manifestations, diagnostic criteria  for neurofibromatosis type I, are considered. Presented clinical case shows the later diagnosis of neurofibromatosis a child 14 years  of age with mental retardation. It shows that this issue is highly relevant, socially significant and requires further study. The above  observation makes us pay attention to the necessity of continuity of medical support by doctors of various specialties of this contingent  of patients.

 

Pseudohypoparathyroidism is a rare genetic disorder characterised by end-organ resistance to parathyroid hormone due to a defect of the guanine nucleotide-binding protein alpha that simulates activity of the polypeptide 1 (GNAS) gene. Patients with type Ia pseudohypoparathyroidism have different features of Albright's hereditary osteodystrophy and characteristic phenotype (obesity, round face, short stature, short neck, brachidactyly, etc.), multi-hormone resistance. We describe two sisters (half sibs), who presented with different symptoms of pseudohypoparathyroidism and clinically manifested different degree of Albright's hereditary osteodystrophy. Genetic study detected a mutation p.D190MfsX14 (c.568 571 delGACT), in theGNAS 1 gene (OMIM*139320).

Tuberous sclerosis is a polysystemic genetic disease. The features of the development of mental functions in this disease are of interest to specialists who are called upon to determine the educational, social and other needs of children with tuberous sclerosis, to provide them with the necessary medical, psychological and pedagogical support. Data of the results of the study of mental functions in children diagnosed with tuberous sclerosis are presented. A sample of subjects comprised 15 children aged 6 to 16 years, both with normal and with reduced mental development of varying severity. The diagnostic possibilities of using neuropsychological methods for this disease in childhood are considered. In all sick children a neuropsychological deficiency is revealed, which manifests itself in the lack of neurodynamic characteristics of mental activity, in the reduction of mental capacity and rate of task perfomance, exhaustion, distractibility, instability of voluntary attention. It is shown that the use of modern diagnostic techniques allows to give an objective quantitative and qualitative assessment of the development of mental functions in children with this disease.

The assessment of screening of children and teenagers with application of the antigen tuberculosis recombinant (ATR) for the purpose of selection of persons with the changed sensitivity for carrying out the further inspection including the computer tomography of respiratory organs (CTRO) is carried out. Informational content of CT in group of therapeutic risk was analyzed. Introduction of tests with the ATR led to reduction of quantity to be surveyed at the phthisiatrician from 14,4% selected on the basis of data of a tuberculin test (TT), up to 2,6% by results of tests with the ATR in 2015, to decrease of number of the persons which are subject to preventive treatment of latent tuberculosis infection, reduction of observed children with postvaccination allergy, and also body height of number observed in IIIA dispensary registration group more than by 6 times. Application of the ATR was more informative among teenagers where the positive take of test about the ATR was followed by detection of local changes the CT method by 12,4 times more often than among children. Informational content of CT is higher than classical X-ray analysis of respiratory organs by 7,6 times and lack of this look in comprehensive examination of risk groups leads to a poor identification of tubercular changes in 47,4% of cases with the changed sensitivity on the ATR. Practically lack of signs of tubercular defeat on CTRO in group of therapeutic risk confirms specificity of test with the ATR in selection of risk group on a disease of tuberculosis. The absence of signs of tuberculosis lesion on a computer tomogram of the chest in the group of therapeutic risk confirms the specificity of the sample with the allergen tuberculosis recombinant for the selection of the risk group for tuberculosis.

The article presents current data on an important role of vitamin D in an organism and possible disorders leading to the provision decrease. Research objective: to determine the sufficiency of vitamin D in children staying in hospital with bronchopulmonary pathology without diagnosed rachitis, to show the role of dairy products in a diet for correction of lack of the vitamin D. A total of 120 children from the 1 month to 3 years were examined, in 20 of them 25(OH)D level in a blood serum was detected via the enzyme-liked immunoassay. The average values in infants were 13,3±0,6 ng/ml, in patients in comparative group 25,9±1,1ng/ml. Findings indicate the necessity of correction of vitamin D for children, in particular using dairy products. Enriched milk products provide children’s organism with vital nutrients as a factor supporting their health.