In modern sports, outlining an adequate diet is one of the key issues in training young athletes. The following literature review presents new approaches to nutrition of young athletes going in for cyclic sports. These sports take a lot of energy, entail great strain and significant intensity of training. Correspondingly, the ratio of nutrients in athletes training for endurance tends to shift toward carbohydrates, the amount of which in the body should cover the increased need for workload as may be defined by the training process and the amount of workload. High-fat diets have proved irrelevant in terms of providing energy function; therefore, this nutritive approach was dismissed, since an athlete should have an about 25% share of fats of his/her menu’s total caloric value. According to modern standards, the amount of proteins in athletes’ menu should not exceed 1.2–1.6g per 1kg of body weight. To avoid the risk of dehydration and physical weakness, cyclic athletes should take sport drinks (in small portions) prior to and following a training session (competition). They contain carbohydrates and electrolytes and therefore are more preferable than pure water. 

Fabry disease is a serious degenerative hereditary disorder, which is referred to as a lysosomal storage disease and is a form of sphingolipidosis. Fabry disease often starts in childhood and adolescence, although the complete clinical manifestation occurs in adulthood. Early diagnostic is often difficult due to polymorphic clinical picture, untypical initial symptoms and doctors’ low level of awareness. Fabry disease patients should undergo a special kind of pathogenetic enzyme replacement therapy. Timely diagnosis and prompt treatment can prolong life expectancy and improve life quality. 

The lecture characterizes types, cause and key aspects of the pathogenesis of poor exchange of ions of sodium, potassium, calcium, magnesium, phosphor and chlorine, their basic manifestations and methods of treatment.

Background: In Russia there are a lot of children with tuberculosis in an involution phase that is caused by poor quality of the tuberculinodiagnosis. Currently, the new intradermal test with the recombinant tuberculosis allergen (RTA) is becoming more widespread in practice of TB service specialists. Objective: To study the efficacy of the RTA in early identification of latent tuberculosis signs in children and adolescents. Methods: We conducted a multicenter retrospective study, during which we studied the results of 4 stages of the RTA application in 2008–2014. Stage 1 involved the medication use in tuberculosis dispensary settings. Following stages included TB screening in general healthcare settings. Patients were children with acute and chronic non-specific diseases as well as healthy pupils. The 4th study stage included the epidemiologic analysis of recombinant tuberculosis allergen application results all over the Russian Federation. Results: During the study a phthisiologist identified 763 patients in categories of children and adolescents with the highest disease risk (39.5%); TB identification in 176 patients of a general hospital made 2.3%; among 1238 pupils — 0.6%. In accordance with the results of RTA application in children and adolescents 79 RF entities comprise the methods of the child population screening for tuberculosis, according to which all children after primary BCG-M vaccination should undergo immunodiagnostic work-up with tuberculin application annually. Since 8 years of age all children and adolescents undergo the annual immunodiagnostic work-up with RTA application. Conclusion: RTA application in general healthcare settings enables identification of the top risk groups for acquiring tuberculosis infections and patients with early disease stages. The method of the tuberculosis detection and monitoring of risk groups was suggested (Order of the Ministry of Health of the Russian Federation No 855, 2009; No 951, 2014). 

Objective: Our aim was to study the prevalence and clinical features of autoinflammatory syndromes among patients with systemic juvenile idiopathic arthritis. Methods: A prospective nonrandomized study was conducted. All its members have been studied for mutations in TNFRSF1A and NLRP3 genes by the sequencing method. Results: 90 children (27 boys, 63 girls) aged from 1 to 17 (average age 8.2) years, with a guide diagnosis: «Systemic juvenile idiopathic arthritis», were examined. As a result, 10 (14%) patients showed mutations in TNFRSF1A gene, leading to the development of TRAPS-syndrome (8 had the most common mutation of R92Q; 3 — not previously described mutations in NLRP3 gene). 2 patients had the diagnosis of CINCA/NOMID Syndrome, 1 — Muckle–Wells Syndrome. In three cases, mutations leading to the development of TRAPS-syndromethe were identified in the first line of descent. Classical examples of autoinflammatory syndromes such as cryopyrin-associated periodic syndrome (CAPS), and tumor necrosis factor receptor associated periodic syndrome (TRAPS). The data about their pathogenesis, clinical features, diagnosis and treatment is presented. Conclusion: It is shown that early detection and adequate treatment of patients with autoinflammatory syndromes, characterized by severe disease and serious prognosis, is difficult due to lack of awareness of pediatricians and unavailability of genetic diagnosis of these syndromes. The necessity of the development of a universal model of the diagnostic algorithm for identification of autoinflammatory syndromes using next-generation sequencing technologies is grounded. 

Background: The postnatal adaptation comprises alteration of metabolic processes of a newborn, the disturbance of which can lead to dysfunction, and later — to the development of diseases. Objective: Our aim was to study the bond of cerebral ischemia in full-term children born by Caesarean section with the course of metabolic processes in the early neonatal period. Methods: A retrospective comparative study was conducted. Children born by Caesarean section, who had cerebral ischemia (n =120) and who didn't have it, (n = 150) were examined. Complex examination included an assessment of a number of factors: clinical, biochemical blood tests, acidbase balance, concentration of some hormones. Results: In children after Caesarean section with cerebral ischemia in the early period of adaptation we noted disturbances of the acid-base balance (BE 0.3 ± 1.9 mmol/l; р = 0.038), blood oxygenation (SaO2 79.7 ± 2.8%; р = 0.001), frank lactataemia (4.3 ± 1.8 mmol/l; р = 0.002), signs of a catabolic orientation of metabolism (hypoproteinemia, increased protein metabolism products, frank primary loss of body weight). The considerable changes of activity of the blood enzymes, disturbance of glucose metabolism indicated the lack of energy-dependent processes. Due to this, the hyperbilirubinemia and a hormonal imbalance were more often formed. Conclusion: Cerebral ischemia in children born by Caesarean section is a reason for the development of a metabolic disadaptation. The detection of disturbances of metabolic processes in the early neonatal period is necessary for a timely start of the correctional therapy in order to prevent the development of diseases in more distant periods of a child's life. 

The article focuses on the definition of functional constipation in accordance with the Rome III diagnostic criteria, the Prague consensus and suggestions offered by the North American Society for Pediatric Gastroenterology, Hepatology and Nutrition (NASPGHAN). It presents data on functional constipation occurrence in children, which differ greatly between some authors (ranging from 0.7 to 29.6%, average occurrence being 8.9%). Functional constipation is detected in children of all age groups — from infants through teenagers. Severity varies from light to nasty. Only 1.6% of all cases occur due to organic disorders, while the rest are purely functional. The article describes risk factors for juvenile constipation and an algorithm for differential diagnosis of chronic constipation and Hirschprung’s disease. The main goal of treatment is to re-establish the normal density of the content of the intestines and speed up colonic transit. The algorithm of recording infants suffering functional constipation requires, first and foremost, correct nutrition and regular activities aimed at stimulating the exoneration reflex. Drug therapy includes administering peroral laxatives and other medicines to stimulate bowel movement. Pediatrics inclines toward using osmotic peroral drugs, particularly polyetilenglicol — a high-molecular polymer, which increases the volume of and softens the content of the bowels through building extra hydrogen bonds with the molecules of water and indirectly stimulates bowel movement. 

Adequate protein consumption in infants is a heavily debated issue. First, it is related to the formation of a new scientific field — “Infant prerequisites of man’s wellness and illness,” which directly indicates that excessive intake of proteins during infancy has long-term consequences and greatly contributes to obesity and chronic infectious diseases in adults; second, it is related to new technologies, which improve the protein component of infant formulas and bring them at par with breast milk in terms of quality and quantity. High protein consumption is related to bottle feeding, because starter and further infant formulas are richer in protein than breast milk. Protein-rich menus trigger production of insulinogenic amino acids, insulin and the insulin-like growth factor (IGF-1). High IFTcombined with branched-chain amino acids (leucine, valine, isoleucine, threonine) activates a set of signalling molecules (mTOR), which are responsible for integrating metabolic and immune response. Repeated activation of mTOR coupled with regular intake of high-protein infant formulas causes health issues in adulthood. Diseases like diabetes type 2, obesity, arterial hypertension, cancer (particularly prostatic cancer), are related to overactivation of the mTOR signalling molecule complex. Intensive consumption of milk in today’s world is the key mTOR activator contributing to an increased risk of lifestyle diseases and triggering the mechanism of their development. The progressing infant formula industry allows to cut protein levels in starter and further infant formulas down to 12 g/l and, respectively, lower the risk of non-infectious diseases in adulthood. 

Combined vaccines containing non-cellular pertussis component and having low reactogenicity, increase vaccination coverage against controllable infections. However, the safety of vaccination in children dealing with health issues, as well as those having a history of premature infancy, requires additional research. The article presents reactogenicity analysis for the DTP-IPV/HIB pentavaccine during primary vaccination and revaccination of premature infants (n = 85), as well as vaccination of mature newborns (n = 1433) inoculated in accordance with the national Vaccination Calendar behind the schedule. The occurrence of post-vaccinal reactions in the premature infant group was the same as in the mature infant group and amounted to 41.2% and 45.0%; the occurrence of common reactions was 18.8% and 22.4%; local effects measured 25.8% and 27.9% respectively. Post-vaccinal reactions were either weak or moderate, not requiring treatment, and they would completely disappear by the end of the third post-vaccinal day. Simultaneous injection of pentavaccine and Hepatitis B vaccine and pneumococcal conjugate vaccine in children with a history of premature infancy, showed no influence during the post-vaccinal period. The reactogenicity of pentavaccine increased along with the vaccination ratio during the primary series of vaccinations. 

Represented here is a case of early juvenile idiopathic arthritis associated with uveitis diagnosed in a three-year-old female patient subject to treatment with the standard methotrexate dosage. At the initial stage of treatment, the child demonstrated severe articular syndrome, inflammatory reactions affecting eyeball surfaces, increased laboratory indicators of the illness and functional insufficiency. Successful overcoming of methotrexate resistance through dosage increased up to 20 mg/m2 of body surface per week was described. Over three months of subcutaneous methotrexate treatment with a 15 mg/m2-per-week dose, the child showed milder joint exudation an, arthralgia, less lengthy morning stiffness, although there was no 50% improvement based on ACRpedi criteria, and uveitis was first recognized in the subactive phase. The dose was increased up to 20 mg/m2 per week. By the eighth week of methotrexate treatment, uveal inflammation reversed. Non-active phase and remission were detected in 6 and 12 months respectively. The remission has persisted for 6 years. No side effects have been observed throughout methotrexate treatment. 

The article focuses on the development of malabsorption syndrome in young children suffering food allergies and protein-losing enteropathy resulting from failure to follow contemporary nutrition principles. The clinical events demonstrate the consequences of improper estimation of histories and severity of cases, as well as late diagnosis of malabsorption syndrome. Related disorders not only contribute to further degeneration in children, but also increase the risk of serious diseases in future. 

Myocardial infarction is an extremely rare disease in paediatrics, yet it has a broad spectrum of causes, including illnesses affecting myocardium, coronary vessels, and a whole spectrum of hereditary diseases. The article describes a case of myocardial infarction in a healthy teenager and analyzes all possible causes of the disease.

The article presents a description of a clinical case in a two-year-old-and-four-month child suffering occasional abdominal pain. An examination (3D magnetic resonance cholangiopancreatography) revealed a choledoch duct cyst type 4. An inborn malformation of bile ducts, occasional pain, presence of concrements in ducts and the possibility of malignification and rupture of the cyst in the aftermath, as well as development of cholangitis and/or pancreatitis, served as indications for the surgery. The clinical example shown above demonstrates the high efficacy of today’s diagnosis and visualization methods, which allow doctors to properly estimate the required scale and strategy of a surgery. The article also describes stages of the surgery. During the post-surgery period, the child showed positive dynamics, the stitches were taken out on the 11th day, the wounds healed per primam, not showing any signs of acute inflammation. No abdominal pain or body temperature fluctuations occurred. 

Tricho-hepato-enteric syndrome (syndromic, phenotypic diarrhea, SD/THES) is a rare inborn disease, which affects bowels. It is caused by the mutation of genes SKIV2L or TTC37. Manifestations include intrauterine hypotrophy, severe chronic diarrhea, which starts in infancy, characteristic facial features and hair growth abnormalities, immune disorders. There are data on two patients dealing with tricho-hepato-enteric syndrome with underlying Crohn’s disease. This is the first description of cases of aggravated tricho-hepatoenteric syndrome ever found in Russian medical literature. 

Еuropaediatrics – 2015 

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