The article presents information on measures to develop palliative care for children in Russia. The data available in foreign literature have been used to study palliative care needs in children. The trends and structure of pediatric morbidity in Russia, which potentially determines their palliative care needs, have been analyzed.

According to various estimates, mental retardation occurs in 1-3% of the population. Mental retardation is customary to clinically classify in terms of its severity; however, its classification still remains a challenge. Gene or chromosome abnormalities are responsible for 25 to 50% of mental retardation cases. Possible variants of genetically determined disorders are known as chromosomal, autosomal dominant, autosomal recessive, X-linked, and multifactorial ones. The specific cause of mental retardation cannot be clinically suspected in most cases. Until recently, this uncertainty has not allowed for target DNA diagnosis and the patients have remained without molecular diagnosis, and the families of these patients could not plan the birth of a healthy child. With the advent of a high-performance parallel sequencing technology, it has become possible to analyze not only individual mutations or genes, but whole exome and even genome for clinical and diagnostic purposes. The review considers the epidemiological, clinical, and genetic aspects of the heterogeneity of mental retardation. It gives calculations of the number of genes, defects of which are associated with mental retardation and shows prospects for its diagnosis using the new high-performance diagnostic techniques.

Summarized research material for nephropathy associated with the pathology of the complement system in children and adults. Presents clinical, immunological and morphological differences of the nephropathy associated with the pathology of the complement system with other renal diseases, especially glomerulonephritis, including membranoproliferative variants and nephrotic syndrome associated with disorders of complement. The pathogenesis of the development of nephropathy associated with the pathology of the complement system, where highlighted as forms, associated with genetic mutations or variants, due to the formation of autoantibodies to components of the complement. Shown the options and effectiveness of treatment immunosuppressive drugs and by eculizumab depending on pathogenetic and clinical features of nephropathy associated with the pathology of the complement system.

The review gives data on shortcomings in the antimicrobial measures that are associated with the defects in the effective treatment of urinary system infections, such as the high risk of disease relapses and the stable proportion of secondary pyelonephritis among the causes of chronic renal failure. The vulnerability of this approach is to accelerate the rate of acquiring the resistance of uropathogens to the currently available antibiotics that may also have a number of side effects, including those involved in the pathogenesis of urinary tract infections. Difficulties in conducting adequate causal therapy are also associated with some subjective factors that largely hamper the personalized diagnosis of diseases of causative agents.

Objective: to highlight the current concepts of gastrointestinal manifestations of mitochondrial dysfunction. The data available in Russian and foreign literature on the gastrointestinal manifestations of mitochondrial dysfunction were analyzed. Functional digestive diseases are common in pediatric practice; however, their etiopathogenesis has not been adequately explored today. According to the literature, impaired cellular energy metabolism may underlie gastrointestinal motility disorders in cyclic vomiting syndrome, gastroesophageal reflux, gastric stasis, chronic diarrhea, constipation, intestinal pseudoobstruction, malabsorption syndrome, irritable bowel syndrome, as well as diseases of the liver and pancreas.

Obesity prevention is a priority in health care. The paper gives the results ofstudies of the prevention of overweight and obesity in childhood. It discusses specific practical recommendations concerning antenatal prophylaxis, a balanced diet, complementary food, and infant feeding tactics. Inclusion of functional foods as an important component of dietary measures to prevent obesity is warranted.

Objective: to evaluate the impact of anemia in pregnant women on the formation of an early neonatal adaptation period. The investigation enrolled 84 mother-baby pairs followed up at a Krasnoyarsk maternity hospital. Group 1 consisted of 40 infants born to pregnant women with grade 1 anemia; Group 2 included 19 babies born to mothers with grade 2 anemia. A control group comprised 25 babies born to somatically healthy non-anemic pregnant women. The incidence of transient conditions, signs of physiological immaturity, as well as changes in motor activity and tendon reflexes was significantly higher in the infants whose mothers were anemic during pregnancy. It is concluded that anemia in pregnant women has a considerable impact on neonatal health. These children have more commonly hemorrhagic-ischemic CNS disorders, which may lead to further psychomotor and speech retarded.

To assess the clinical and laboratory characteristics of an adaptation period in babies delivered by cesarean section in hypertensive women, a survey was conducted in 196 neonatal infants. Fetal growth restriction, Apgar scores, degree of asphyxia, and resuscitation needs were determined. Umbilical cord indicators, such as blood gas composition and acid-base balance in the umbilical artery and vein, were studied. The course of an early postnatal adaptation and the outcomes of an early neonatal period were analyzed. The newborn babies of hypertensive mothers were found to have lower gestational age at birth, lower weight and height, a higher incidence of fetal growth restriction, and failure of most organs and systems, which considerably hampered their postnatal adaptation. In the group of babies born to mothers with severe preeclampsia, impairment in early neonatal adaptation processes was more pronounced than in those of mothers with chronic hypertension.

The study assessed trends in posthypoxic changes in the cardiovascular system over the first six months of life in babies with and without fetal growth restriction. The infants born with fetal growth restriction and those born without this condition were found to have similar posthypoxic changes in terms of the type of dilated, hypertrophic cardiopathy or cardiopathy with normal heart chambers. The formation of normal heart function that remained during the first six months of life was impaired in all cases. Fetal growth restriction in babies with the lower heart chambers was related to the changes at birth and during 6 months of life, which were similar to those of cardiopathy with normal heart chambers, but more pronounced. Fetal growth restriction in infants with the enlarged heart chambers was associated with autonomic dysregulation as excessive sympathetic activity at birth, impaired automatism and conductivity, and decreased contractility and relaxation of the left ventricle. The sympathetic component and compensatory resources were observed to be depleted in these babies at the age of 6 months. More pronounced changes were associated with the duration and severity of fetal distress.

The study estimated vitamin D provision for babies in relation to the type of their feeding and the efficiency of drug donations of cholecalciferol preparations. A total of 132 babies aged 1 to 12 months were examined. Vitamin D deficiency was shown to occur in more than half (58.3%) of the babies at the solar minimum. If hypovitaminosis D was not prevented using drugs, the serum 25(OH)D level in the breastfed babies was 8.7 (6.3-14.8) ng/ml, which was significantly lower than that in formula-fed ones [24.55 (19.0-32.0) ng/ml] (p=0.00002). Cholecalciferol taken by the infants in a preventive dose of 500-1500 IU/day substantially increased their provision with vitamin D from 19.8 (10.4–26.3) to 32.7 (24.5-45.7) ng/ml (p=0.0000007), regardless of the feeding pattern. The serum calcidiol level is closely correlated with the dose of cholecalciferol (r=0.57; p<0.0001), the use of preparations containing vitamin D in a dose of 1000-1500 IU/day significantly improves the level of its provision throughout the first year of life, without increasing the risk of overdose.

The aim of this study was to investigate the prevalence of meconium ileus in a Russian population of patients with cystic fibrosis, its clinical and genetic characteristics and outcomes, by analyzing the data available in the 2014 registry of the Russian Federation. The investigators studied the characteristics of 142 cystic fibrosis patients who had experienced meconium ileus at birth from the 2014 registry of the Russian Federation that included data on 2131 patients; thus, the cystic fibrosis patients who had meconium ileus at birth was 6.6%. In the group of babies in first year of life, meconium ileus was diagnosed in 22.1% of the patients, which reflects its real prevalence. There was evidence of ileus in the history in 10.7% of the patients aged 1 year to 7 years, in 5.6% in those aged 7 to 18 years, and in 1.5% in those older than 18 years of age. The age at the diagnosis of cystic fibrosis in patients with ileus was 5 times less than in those without ileus: 0.76±2.01 versus 3.72±6.16 years; p<0.0001. In the meconium ileus group, sweat chloride levels were significantly higher and body mass index values were lower than in the non-ileus group. Electrolyte disorders, aspergillosis, and liver cirrhosis were more common in the patients who had experienced meconium ileus. The homozygous condition for the F508del mutation (Class II) and severe CFTRdele2 mutation (Class I) were more frequently recorded in the meconium ileus group. Mild mutations were more frequently found in the non-meconium ileus group. Survival and age at death were lower in patients with a history of meconium ileus. All newborns with meconium ileus should be examined for cystic fibrosis.

Twelve biochemical parameters were measured to examine 145 children with cardiovascular diseases (cardiomyopathy, hypertension). Changes in these parameters were ascertained to be similar and different in relation to the specific disease. Cardiomyopathies were characterized by the elevated blood levels of natriuretic peptides (ANP, BNP, and CNP), myocardial creatine kinase (in all the patients), and aldosterone (in two thirds). In hypertrophic cardiomyopathy, there were increases in the blood levels of nitric oxide and tumor necrosis factor-α, as well as the highest activity of creatine kinase. Dilated cardiomyopathy was characterized by rises in endothelin and ANP and a moderate elevation of creatine kinase. Children with restrictive cardiomyopathy were often noted to have a moderate increase in endothelin.

The paper highlights the issues of the modern epidemiology of urinary tract diseases in the pediatric population of a large industrial city. It presents the prevalence rates, pattern of these diseases, and renal morbidity in the children living in a highly polluted environment. The results of using of levocarnitine to treat dysmetabolic nephropathy with calcium oxalate crystalluria in childhood are described.

Objective: to evaluate the course of pyelonephritis in children and adolescents infected since the past years and uninfected with Mycobacterium tuberculosis. The study included 50 patients aged 3 to 17 years with acute and chronic pyelonephritis. Clinical, laboratory, instrumental, and functional examinations were used, by obligatorily verifying the uropathogenic etiological factor. The investigators identified contacts with tuberculosis patients and analyzed the results of BCG vaccination, Mantoux test, and, if indicated, chest X-ray, and urine test for Mycobacterium tuberculosis by flotation and culture methods. Among the 50 children with pyelonephritis, 24 patients were diagnosed with Mycobacterium tuberculosis infection since the previous years (more than 1 year); one had the early stage of primary tuberculosis infection. Among the 25 infected children, one patient was detected to have intrathoracic lymph node tuberculosis in the calcification phase (no evidence of activity). Conclusion. One-half of the children with pyelonephritis were found to have Mycobacterium tuberculosis infection; of them, one-half of the cases were identified to have contacted a patient with tuberculosis and the signs of its activity, as shown by a tuberculin test and Diaskintest®. The findings give grounds to consider children with pyelonephritis to be at risk for renal tuberculosis.

Urinary tract infections remain a common childhood disease. Whether furamag (furazidine potassium) potassium might be used as starting monotherapy for uncomplicated urinary tract infection in an outpatient setting was assessed. The investigation enrolled 122 children aged 3 to 15 years with an established diagnosis of urinary tract infection, who were followed up in the outpatient setting, and divided into two groups. Group 1 (n=62) received oral antibiotic therapy with protected penicillin with subsequent switch to uroseptics. Group 2 (n=60) had furamag monotherapy. After 10 days of treatment the therapeutic efficiency had no significant difference in both groups, the disappearance rates of clinical and laboratory markers for the infection were comparable. The use of furamag as monotherapy for uncomplicated urinary tract infection can be an alternative to antibiotics in children older than 3 years of age.

The paper gives a management scheme for children with chronic pyelonephritis in the presence of metabolic disorders as urate and oxalate crystalluria. Diet therapy, a drinking regime, and regular courses of mineral water should constantly figure prominently in the rehabilitation of this contingent of patients. In the exacerbation period, therapy is used according to the conventional regimen: antibiotics and uroseptics (furamag), followed by canephron. Anti-recurrent treatment with furamag and canephron is used in intercurrent diseases and during preparation for vaccination. This regimen leads to reductions in the recurrence rate of pyelonephritis and in the prevalence of crystalluria in children.

Objective: to evaluate the efficacy of an immunoregulatory peptide in the combination therapy of pneumonia in children. The investigation included 71 children aged 1 to 15 years with pneumonia. According to the days of the week, the patients were randomized into 2 groups: 1) 32 children received standard combination therapy; 2) 39 children took an immunoregulatory peptide (the active ingredient was arginyl-alpha-aspartyl-lysyl-valyl-tyrosyl-arginine) as a nasal spray at a dose of 50 µg in addition to the standard therapy. The efficacy of the agent was evaluated by the duration and severity of the major clinical symptoms of the disease and the levels of cytokines and bactericidal/permeability-increasing protein. The immunoregulatory peptide was ascertained to be effective in treating children with pneumonia since it decreased the duration and severity of the major clinical symptoms and normalized immunological parameters.

Folate cycle gene polymorphisms and the levels of endogenous antimicrobial peptides and proteins in the blood and coprofiltrates were studied in 45 children aged 3 to 12 months with cow’s milk protein allergy. The polymorphic variants of the MTHFR, MTRR, and MTR genes were shown to be considered as a risk factor for the development of allergy. There was a significant increase in the levels of zonulin, β-defensin 2, transthyretin, and eosinophil cationic protein in the coprofiltrates and in those of eotaxin, fatty acidbinding proteins, and membrane permeability-increasing protein in the serum (p<0.05). The finding can improve the diagnosis of the disease for a predictive purpose for the evaluation of the efficiency of performed therapy.