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Urinary tract infections are a common global problem among physicians of various specialties, including therapists, pediatricians, nephrologists and urologists. Today UTI is one of the leading bacterial infections in both adult and child populations. The main type of therapy and prevention of recurrent UTI is the use of drugs with an antibacterial effect (antibiotics, uroseptics). An urgent problem in modern medical practice is the increasing antibiotic resistance, which requires the development of new approaches to therapy and prevention, including UTI. In recent years, special attention has been paid to the study of vitamin D receptor (VDR) gene polymorphisms as a possible risk factor determining the predisposition to a number of infectious and noninfectious diseases. More than 200 polymorphisms of the VDR gene have been identified, four of which – FokI, BsmI, ApaI, and TaqI – are particularly common. Different VDR alleles can cause small changes in receptor function, which can affect resistance or susceptibility to a particular infection. The review presents data from modern studies demonstrating the relationship between vitamin D supply and development, the frequency of recurrence and the nature of the course of UTI. In one study, vitamin D has been shown to enhance the cathelicidin-mediated antibacterial action of bladder epithelial cells. It also demonstrated the currently known defense mechanisms of vitamin D against urinary tract infections, including its effect on components of the innate immune system.

Goat milk has a long history of use in human nutrition. There are currently many studies examining the functional characteristics and nutritional value of goat milk and its importance in the production of various dairy products. Before, native goat milk was widely used for feeding young children if the breastfeeding was impossible. To date, however, the practice of feeding unmodified goat milk, as well as cow milk, to infants under 12 months of age is strongly discouraged, as this leaves them exposed to the risk of electrolyte imbalance, as well as iron, folic acid, and vitamin B12 deficiencies. Commercial production of formulas based on goat milk began in the 1980s, and since then there have been many studies which show the safety and effectiveness of these formulas. The review provides the latest evidenced-based information on the composition and functional properties of individual components of the goat milk and goat milk formulas. The protein and amino acid composition of goat milk, as well as the features of its effects on the formation of the infant's intestinal microbiota, are described in detail. The studies investigating goat milk oligosaccharides and their similarity to human milk oligosaccharides are presented. The characteristics of the goat milk fat profile have been demonstrated. As an example of an adapted goat milk formula, a formula designed to meet all standards is presented. The fat profile of the presented formula is modified by introducing a patented lipid complex consisting of β-palmitate in its composition. In addition, the presented formula composition includes such oligosaccharides as galacto- and fructo-oligosaccharides, which availability ensure the formation of an optimal intestinal microbiota.

Introduction. Inadequate vitamin D supply worldwide is a public health problem. Low vitamin D levels during pregnancy can lead to abnormal placentation, placental insufficiency and abnormal fetal development, which contributes to poor health after birth.Objective of the study is to analyze the vitamin D status of premature infants born in the south of Russia.Materials and methods. A total of 141 premature infants were examined. Extremely low birth weight was found in 19 (13.4%) newborns, very low birth weight in 35 (24.8%), and low birth weight in 75 (53.2%).Results and discussion. Premature infants had vitamin D deficiency in the majority of cases (51%), with a median of 16.9 [11.7; 22.9] ng/mL. Correlation analysis demonstrated a positive association between 25(OH)D levels and body weight in very low birth weight infants (r = 0.34, p = 0.043). Serum vitamin D concentrations were 1.6 times lower in infants whose mothers did not receive multivitamins than in those whose mothers received multivitamins, 13.8 [9.7; 20.9] and 21.6 [16.9; 28.6] ng/mL, respectively (p = 0.001). Infants with an Apgar score of 7-10 had higher vitamin D levels, 17.8 [11.9; 22.7] ng/mL, than infants with severe asphyxia, 13.8 [9.9; 16.8] ng/mL (p = 0.036). Premature infants with congenital infection had lower 25(OH)D levels than infants without an infectious process, 15.6 [10.8; 22.9] and 18.4 [14.2; 22.7] ng/mL, respectively. Children with an infectious process that subsequently ended in death had lower 25(OH)D levels than children without an infectious process (p = 0.001). Children with cerebral ischemia had lower 25(OH)D concentrations than children without cerebral ischemia (p = 0.001).Conclusions. Premature infants born in the south of Russia have vitamin D deficiency in more than half of the cases. Administration of preparations containing cholecalciferol reduces the proportion of newborns with severe vitamin D deficiency, but does not ensure optimal serum levels. Initially low levels of 25(OH)D can be considered as an unfavorable prognostic sign against the background of the development of congenital infection.

This review presents information on the prevalence, pathogenesis, clinical manifestations, diagnosis and treatment of Duhring’s dermatitis herpetiformis. Although the disease was first clinically described in 1884 by the American dermatologist L.A. Duhring, the study of its pathogenesis and the search for prognostic markers of its occurrence continue. Against the background of a significant expansion of ideas about gluten-dependent diseases and conditions, views on the mechanisms of autoimmune skin damage in dermatitis herpetiformis are detailed. A strong association with hereditary predisposition through the major human leukocyte histocompatibility complex (HLA) DQ2 and DQ8, and a role of epidermal transglutaminase as a major autoantigen in dermatitis herpetiformis are shown. The hypotheses explaining the decline in the incidence of dermatitis herpetiformis in recent decades against the background of increased and more effective serological screening and the resulting earlier diagnosis of celiac disease are commented on. A typical clinical picture of dermatitis herpetiformis, in which erythematous papules, plaques, vesicles are seen, usually clustered on the flexural surfaces of the extremities. Secondary elements are erosions, excoriations and crusts due to rupture of blisters and due to scratching caused by intense itching. A generally favourable prognosis for life and disease is shown with a gluten-free diet and the use of dapsone, glucocorticoids and, if these are ineffective, immunosuppressants. The authors describe a clinical case of the disease in an adolescent girl with a typical clinical history and characteristic rashes on the extensor surfaces of the limbs. The authors show that drug therapy without a gluten-free diet cannot be considered effective, and that the diet for dermatitis herpetiformis, like that for celiac disease, is lifelong. The growing understanding of gluten-associated pathology, which includes dermatitis herpetiformis, in recent decades has led to an intensive search for diagnostic and prognostic markers, as well as the development of ways to correct this group of diseases, including those not related to the lifelong elimination of cereal prolamines.

The article presents the modern views of clinicians and geneticists on one of the most severe genetic disorders of skeletal and connective tissues - osteogenesis imperfecta. The review provided the literature data that showed the incidence rates, genetic heterogeneity of osteogenesis imperfecta, as well as the role of some proteins involved in the construction of bone tissue, as well as a clinical classification of the main types of the disorder. The authors described a clinical case: a girl with typical clinical and radiological manifestations of the rarest of all types of osteogenesis imperfecta - type II (perinatal-lethal, congenital osteogenesis imperfecta, Vrolik’s syndrome). The child’s diagnosis was verified by a parallel DNA sequence analysis which showed a heterozygous mutation in exon 29 (c.1966G> A) of COL1A1 gene not previously described in the literature. It caused the substitution of glycine for serine at position 656. The role of antenatal diagnostics and the importance of medical genetic counselling of the family before planning the next pregnancy due to the existing risk of re-birth of a sick child is outlined. Due to the fact that majority of the patients with the most prognostically unfavourable type II osteogenesis imperfecta, as a rule, die in utero, the described case of observation of the girl with typical clinical and X-ray signs of the disorder for almost 3 months of postpartum period is extremely rare and highly indicative. The detection of the heterozygous mutation in exon 29 (c.1966G > A) of COL1A1 gene by a parallel DNA sequence analysis which was not previously described in the literature gives an additional significance to the described observation.

Introduction. Data on the vitamin D receptors (VDR) found on the surface of a large number of cell types of the human body were first published several decades ago, which served as a prerequisite to study the role of vitamin D in the development of some diseases, including infections.Objective of the study.Evaluate the relationship between administration of cholecalciferol supplements, the synthesis of defensins, and the incidence and morbidity patterns of acute respiratory infections (ARI) in young children.Material and methods.108 healthy children aged 1 month to 3 years were examined, of which 34 (31.5%) were vitamin D sufficient, 40 (37.0%) had a vitamin D insufficiency, 27 (25.0%) had a vitamin D deficiency and 7 (6.5%) children had severe vitamin D deficiency. After the course of treatment of vitamin D deficiency with therapeutic doses, all patients were prescribed prophylactic doses of cholecalciferol supplements (1000 IU/day) for a 6-month course.Results. Therapeutic doses of cholecalciferol promoted β1 and β2-defensin expression; a direct correlation was found between the daily dose of vitamin D and the increase of β2-defensin expression (r = 0.34, p

Introduction. Coeliac disease is a genetically determined disease associated with the HLA-DQ2 and DQ8 genes. According to European data, these alleles are detected in more than 95% of patients. The results of earlier studies in various regions of the Russian Federation and the constituent republics have shown a lower incidence of HLA-DQ2/DQ8 in children with coeliac disease (60–80%). These data served as a basis for discussion about regional genetic features and the potential for disease development in a significant proportion of patients without DQ2/DQ8 alleles.Methods. Genetic screening was conducted on 275 children with coeliac disease. According to the results of the study, the patients were assigned to genetic risk groups.Results. HLA-DQ2/DQ8-alleles were detected in 274 children (99.6%), with 86.9% of patients having DQ2 molecule in genotype and 12.7% having DQ8 molecule. Among 239 DQ2-positive patients, 33.5% were DQ2 homozygous. The remaining DQ2-positive patients had the following HLA-DR-DQ allele distribution: DR3-DQ2/DR5-DQ7 – 8.7%, DR7-DQ2/DR5-DQ7 – 13.4%, DR3-DQ2/ DRx-DQx – 22.2%, DR7-DQ2/DRx-DQx – 2.2%. In five children the incomplete DQ2 molecule was determined, represented by DQA1*0501 allele, while in four patients DQA1*501 was associated with DQB1*0301 allele forming DR5-DQ7 molecule. We found high and significant risk alleles in 29.1% and 22.2% of cases, while moderate and low risk alleles were found in 27.3% and 21.4% of cases respectively.Conclusions: In Russian children with coeliac disease the prevalence of HLA-DQ2/DQ8 alleles corresponds to European data. Low detection frequency of HLA-DQ2/DQ8 molecules in Russian coeliac patients, which was reported earlier, may be due to peculiarities of the approach to the disease diagnostics, which do not correspond to modern Russian and international recommendations.

Introduction. Vitamin D plays a fundamental role in the regulation of calcium and phosphorus homeostasis, and in recent decades its non-calcemic effects have been intensively studied.The aim of the work was to analyze the patterns of vitamin D availability in young children against the background of prolonged use of an aqueous solution of cholecalciferol in preventive doses.Materials and methods: 192 children of the first three years of life were examined (Arkhangelsk – 77 (40.1%), Moscow – 38 (19.8%), Stavropol – 77 (40.1%) children). Assessment of vitamin D availability was carried out by the level of serum calcidiol (25(OH)D). Based on the initial vitamin D supply, patients were divided into groups, and participants used cholecalciferol preparations for 30 days.Results. The baseline vitamin D supply was 26.0 (19.5–35.4) ng/ml. Median 25(OH)D in children in the Moscow region is higher than in Arkhangelsk and Stavropol (p

Relevance: immunotropic effects of cholecalciferol are caused by vitamin-D-induced synthesis of antimicrobial peptides (AMP), in particular р-defensins. There are very few studies in pediatric clinical practice confirming the effect of vitamin D availability on AMP synthesis.Aim: analysis of the correlation between vitamin D availability and AMP production and assessment of the effect of cholecalciferol medication intake on defensin synthesis in young children.Materials and methods: 108 healthy children aged 1 month to 3 years were examined, of which 34 (31.5%) were adequately provided with vitamin D (calcidiol level over 30 ng/ml), 40 (37.0%) with insufficiency (20 to 30 ng/ml), 27 (25.0%) with vitamin D deficiency (10 to 20 ng/ml) and 7 (6.5%) with severe deficit (less than 10 ng/ml). In the presence of hypovitaminose of vitamin D the monthly course of cholecalciferol in doses of 2000-4000 lU/day was prescribed for correction, and in normal provision -prophylactic administration of 1000 IU/day. The indices of 25(ON)D, β1- and β2-defensins were determined three times.Results. On natural feeding, the rates of β1-defensin are 2.3 times (p

Patients on a gluten-free diet are at risk of developing polyhypoavitaminosis and deficiency states, which requires the supplementation of their diet to prevent nutrient deficiencies. The aim of the study: to analyze the dynamics of anthropometric and laboratory parameters, components of the quality of life in children with coeliac disease on the background of a month-long course of administration of hypercaloric mixture for enteric nutrition. Materials and methods: 45 children with coeliac disease aged 2-10 years (mean age 6.3 ± 0.3 years) on a strict gluten-free diet for more than one year. All patients received additional enteric nutrition with a hypercaloric mixture in the volume of 200 ml/day (300 kcal/day) for 1 month as a supplement to the main food ration. Two groups of patients receiving the supplement in 2012-2013 and 2017-2018 were identified. Physical development was assessed under the WHO AnthroPlus programme. The quality of life indicators were assessed using the PedQL 4.0 questionnaire. Results: the total frequency of protein-сalorie deficiency (PCD) before the course of nutritional supplementation was 13 (28.9%) cases, while acute PCD was diagnosed in 6 (13.3%) and chronic PCD in 7 (15.6%) patients. Against the background of the course of nutritious supplementation in children with coeliac disease, there was a significant reduction in weight, height and BMI in both groups. Patients in 2012-2013 initially had a greater gap in weight and height compared to children in 2017-2018. There was an improvement in the sum of the quality of life indicators by 6.3% for children in the first group and by 4.3% for children in the second group against the background of nutritional supplementation. Conclusions: Enrichment of children’s diets with a hypercaloric blend of dietary fiber helps to accelerate the pace of physical development, reduce the number of children with diabetes mellitus, improve hemogram rates and most components of quality of life.

The article presents the results of vitamin D tests in children with cystic fibrosis and in healthy children living in the South of Russia. The study showed the high prevalence of vitamin D deficiency and inadequate levels in patients with cystic fibrosis (86.7%). 25(OH) D level characterizing the vitamin D status decreases progressively in patients and healthy children. With regard to the above mentioned, it is significantly lower in patients with cystic fibrosis than in healthy children in all age periods. The correlation between the serum calcidiol level and the age of patients with cystic fibrosis was r = -0.44 (p = 0.015). Intake of prophylactic (500--1000 IU/day) and therapeutic (1500--3000 IU/day) doses of cholecalciferol results in a less significant increase in calcidiol levels in patients with cystic fibrosis compared with healthy children. A significantly lower 25(OH)D level was detected in patients with cystic fibrosis infected with Staph. aureus. The 25(OH)D levels are significantly lower in children with cystic fibrosis and hypocholesterolemia, than in patients with normal cholesterol levels. Risk factors for the development of severe hypovitaminosis D in children with cystic fibrosis are age, physical developmental delay, exocrine pancreatic insufficiency, presence of chronic Staph. Aureus bronchopulmonary infection. Given the conducted study, the dosage of cholecalciferol in patients with cystic fibrosis should be at least 2 times higher than that in healthy children.

Acetaminophen (AAP) is one of the most common and widely used antipyretic drugs, but its overdose is the leading cause of fulminant hepatic insufficiency in the world. Mechanisms of liver damage at the use of toxic doses of AAP are caused by the transformation of the isoform of cytochrome P450 (CYP2E1, CYP2A6) into a reactive metabolite, N-acetyl-parabenzoquinonimine (NAPQI), which plays a major role in hepatotoxicity. Another mechanism of hepatotoxicity includes the formation of peroxynitrite – a toxic free radical produced in the mitochondria, which causes oxidative damage. In addition to liver damage in case of acetaminophen poisoning, nephrotoxic effect can occur. Potential mechanisms of nephrotoxicity in overdose of AAP are presented, caused by cytochrome P450, as well as prostaglandin synthetase and enzyme N-deacetylase are described. In the clinical case described by us, the development of fulminant hepatic insufficiency against the background of acetaminophen administration led to the development of a coma along with the kidney damage, however, a stable positive dynamics, was achieved during treatment. In the catamnesis 2.5 years later, there were no signs of fibrosis or cirrhosis of the liver.

The review presents information about the pathophysiological mechanisms underlying disorders of the processes of mineralization of bone tissue in patients with celiac disease. The attention is focused on the role of vitamin D and its active metabolite calcitriol, and also parathyroid hormone in regulating calcium-phosphorus metabolism, which is carried out in target organs – small intestine, kidney, bone tissue. Atrophy of the intestinal mucosa in celiac disease is accompanied not only by malabsorption of calcium, and increased resorption of bone due to increased concentration of PTG. According to various studies on the background of developing the osteoporosis in celiac disease, the risk of bone fractures is significantly increased in patients. Strict adherence to a gluten-free diet allows to normalize both the absorption of calcium, and impaired hormonal mechanisms in bone remodeling in the acute phase, and can reduce the risks of osteoporosis and pathological fractures in patients with celiac disease.

Schoolchildren and their state of health, in particular, deficiencies, deserve no less attention than children of early age, while the recognition of the existence of inadequate vitamin D sufficiency in children of all age groups has not yet led to the introduction of mass prophylaxis for hypovitaminosis D. There are a number of factors determining the concentration of 25(OH)D-calcidiol in the blood. However, it is obvious that among many factors one should focus on several most significant and develop a scheme for correcting deficiency in each region.Purpose: to assess vitamin D sufficiency in adolescents living in Moscow, to correct calcidiol status in adolescents on the basis of baseline concentration of the metabolite transported in the blood. Material and methods: 769 adolescents aged 11-18 years for whom 25(OH)D concentration in the blood was evaluated, then 218 patients were randomized into 2 groups: the study group received tableted dietary supplement Minisun® vitamin D3, the controlgroup received placebo. The dosage of cholecalciferol was defined based on the initial level of calcidiol in patients. The study continued for 6 months, then blood was re-sampled to determine the level of calcidiol.Results: the study found low sufficiency with calcidiol among the schoolchildren: 25(OH)D median was 16.3 [11.4-20.8] ng/ml, only 5.2% of patients had normal concentration of calcidiol in the blood. At the second examination, positively significant differences in the status of vitamin D were observed in the study compared to the control group, while patients in the study group,against a background of cholecalciferol donation, demonstrated 25(OH)D median increase from 16.2 [12.25-19.3] ng/ml to 24.2 [21.05-26.4] ng/ml (p