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The literature review presents information on the role of gene polymorphism of vitamin D receptor in human pathology. According to modern data, vitamin D is a hormone which has numerous pleiotropic effects on the human body by binding to its specific receptors (VDR). These effects can greatly determine the role of vitamin D in the occurence and the course of a number of widespread diseases of a modern man, including infectious pathology, autoimmune diseases, neuropsychiatric disorders. Special importance is currently attached to the receptor gene of vitamin D, VDR, which is characterized by a genetic polymorphism that can determine the features of implementation of the biological effects of calcitriol in the human body. The article presents the review data supporting the contribution of certain single nucleotide polymorphisms of gene VDR in the formation of the pleiotropic effects of vitamin D and their clinical manifestations.
This literature review is focused to change our ideas about the etiology, pathogenesis and treatment tactics of the nephrotic syndrome in recent decades. The change in the treatment outcomes of the primary nephrotic syndrome in connection with the emergence of new therapy technologies, is shown. Features of the course, examination and therapy of congenital and infantile nephrotic syndrome and the possibility of the debut of a nephrotic syndrome associated with various gene mutations and at an older age are presented. Principal differences in diagnostic and therapeutic approaches are accentuated depending on the cause of the development of the disease. Modern syndromological and pathogenetic methods of therapy of primary nephrotic syndrome are presented, and the immediate opportunities for the introduction of new treatment technologies based on the use of monoclonal antibodies, are shown.
The review considers research on issues of laboratory diagnosis of acquired cytomegalovirus (CMV) infection in early aged children. Because of the complexity of diagnosis of disease according to clinical signs, the main methods of laboratory diagnosis of CMV are enzyme-linked immunosorbent assay (ELISA) and polymerase chain reaction (PCR), which allows to estimate the amount of virus DNA (viral load), to determine “cut-off” values which makes monitoring of the infectious process accessible.
It is proved that severe form of cytomegalovirus infection is significantly more often developed in people with high viral load of CMV DNA in the blood. The descriptions of the regularities of virus excretion in the saliva and urine of seropositive children are presented: Age-related bimodality with indicators of virus excretion in the first two years of life; Direct correlation with seropositivity and, feedback, with age; Duration for several months; Correlation of low avidity index with high viral load in saliva and early age; Significantly higher viral load in children with congenital infection. Values of median viral load for various biological medium are presented.ORIGINAL ARTICLES. PERINATOLOGY AND NEONATOLOGY
The work purpose is to study blood indicators in dynamics among children with extremely low body weight in the Republic of Mordovia. 90 cards of outpatient observation (form 112/u) within one year of every child’s life were analyzed: 30 children born with extremely low body weight, 30 – with very low body weight, 30 – the full-term, healthy newborns. We studied anamnesis of the children, the analysis of blood indicators and influence of various factors. Hematologic parameters in each group were analyzed, correlation analysis of erythroid lineage indicators and anthropometric data of children were carried out.
The levels of hemoglobin, erythrocytes, leucocytes and neutrophils at birth in small premature infants were lower than indicators of control group; stabilization of hemoglobin level took place only to six months of life, accompanied by simultaneous rising of erythrocytes level and the marked thrombocytosis, the reduced level of neutrophils persisted during the whole first year of life. Also average degree of correlation between indicators of body weight and hemoglobin level, and strong correlation dependence between a gain of body weight and indicators of erythrocytes in group of children with extremely low body/birth weight were detected.ORIGINAL ARTICLES. CARDIOLOGY
The results of observation of 17 patients aged 2 monthsto 16 years with acute and fulminant myocarditis(FM) were analyzed. Patients were observed in the period 2013-2016. Diagnostics used clinical data, laboratory and instrumental studies. Of 17 patients, acute myocarditis was diagnosed in 14 children, fulminant in 3. Therapy included, first of all, measures for the treatment of heart failure – diuretics (furosemide, verospiron, triampur), angiotensin converting enzyme (ACE) inhibitors (captopril), beta-blockers, digoxin inotropic agents. Intravenous human immunoglobulin was administered at a dose of 1-2 g/kg/course in 5 of 17 (29.4%) patients. When the pathogen was verified, specific antiviral therapy (acyclovir, ganciclovir, cymevene) was administered in a standard mode. Immunosuppressive therapy (prednisolone, delagil) was prescribed for two of them. Nonsteroidal anti-inflammatory drugs (ibuprofen, diclofenac) was obtained in children with acute myocarditis duration of over 2 weeks (13 children) prior to 2016. Nonsteroidal antiinflammatory drugs were not administered to hemodynamically unstable patients, regardless of the time period of observation. Overall, 16 out of 17 (94.4%) patients recovered with apparent regression of signs of myocarditis on the background of treatment – the symptoms of acute heart failure and cardiogenic shock were treated, and then manifestations of chronic congestive heart failure gradually decreased. 1 (5,6%) child with fulminant myocarditis died. After 6 months to 3 years, 14 children were observed. Follow-up within 6 months to 3 years showed that the diameter of the left ventricle normalized in 10 out of 14 (71.4%). Two out of 14 children (14.3%) formed postmyocardial dilated cardiomyopathy.
Hypoplasia of the left ventricle is characterized by underdevelopment and functional weakness of the left ventricle. Defect occurs with a frequency of from 0.5 to 7.5% of all congenital heart defects. In newborns, this anomaly is the most frequent death cause. Isolated left ventricular apical hypoplasia is extremely rare, recently recognized congenital heart defect, which has characteristic magnetic resonance and echocardiographic symptoms. Complexity of the diagnostics is an asymptomatic clinical current, so timely diagnostics and therapy can help to delay possible complications and improve the quality of the life of these patients.
ORIGINAL ARTICLES. GUIDELINES FOR THE PRACTITIONER
Gastroesophageal reflux disease (GERD) is a chronic recurrent disorder with esophageal and extraesophageal symptoms and a variety of morphological changes of the mucous membrane of the esophagus caused by retrograde reflux of the gastric or gastro-intestinal contents. Extraesophageal (atypical) symptoms are mainly complaints which indicate involvement in the process of bronchopulmonary, cardiovascular diseases and ENT-organs. This article discusses the pathogenesis of extraesophageal manifestations of GERD, and recommendations on diagnosis and treatment based on the author’s own experience and data of international publications.
The article presents updated recommendations of the European Society of Pediatric Gastroenterologists, Hepatologists and Nutritionists, which discuss period, content and methods of complementary food in healthy full-term European children. The main positions on the period of introduction of various complementary food, including the main allergen-containing foods (gluten, egg, fish, cow’s milk, etc.) are presented. We discuss the main conclusions of international studies on the introduction of complementary foods and its association with the development of allergic diseases. Updated recommendations, regarding period of introduction of gluten in infants and risk of developing celiac disease in childhood, are presented. Different methods of feeding are compared.
ORIGINAL ARTICLES. EXPERIENCE EXCHANGE
OBITUARY
ISSN 2500-2228 (Online)