Pediatrician (St. Petersburg)

BACKGROUND: Currently, there is an increase in the incidence of diabetes mellitus throughout the world, including the steadily increasing number of rare, genetically determined forms of diabetes. Of particular interest are monogenic forms, including neonatal diabetes mellitus, which is a rare heterogeneous disease that manifests, as a rule, in the first 6 months of a child’s life, characterized by a severe labile course and a high risk of complications. Neonatal diabetes mellitus is a rare heterogeneous disease that usually manifests itself in the first 6 months of a child’s life, characterized by a severe, labile course and a high risk of complications. Currently, more than 25 genes are known, mutations in which cause both permanent and transient neonatal diabetes mellitus, as well as syndromic variants of this disease, which are of particular interest due to their severity and polymorphic clinical picture. In this regard, timely verification of the diagnosis is of particular importance.

AIM: The aim of this study is to increase the efficiency of diagnosis of neonatal diabetes mellitus based on the analysis of anamnestic, clinical, laboratory and molecular genetic characteristics of patients.

MATERIALS AND METHODS: 14 patients with transient and permanent neonatal diabetes mellitus were examined.

RESULTS: 11 (78.6%) patients had isolated neonatal diabetes, in three of them the disease was verified in the structure of hereditary syndromes (Wolcott–Rallison syndrome, IPEX syndrome and Donohue syndrome). According to molecular genetic analysis, 14 variants were found in the genes ABCC8, KCNJ11, GCK, GATA6, WFS1, CACNA1D, EIF2AK3, FOXP3, PAX4, INSR, IGF1R, three of which were not previously described in the literature.

CONCLUSIONS: The clinical heterogeneity identified in patients is determined primarily by the diversity of verified variants in causative genes. New variants in the CACNA1D and IGF1R genes that may be associated with the development of NDM, remain poorly understood and require further research.

BACKGROUND: Intrauterine growth retardation of a newborn child is an current problem in neonatology, obstetrics and pediatrics. Due to intrauterine development disorders, these newborns have increased morbidity and mortality rates. In the presence of Intrauterine growth retardation, the likelihood of developing complications in the early neonatal period increases (birth asphyxia, meconium aspiration, hypoglycemia, polycythemia, etc.), and the risk of developing infections and neurological disorders) is increased.

AIM: The aim of this study is to study the parameters of physical development of term newborns born in the Perinatal Centre 3B level of the St. Petersburg State Pediatric Medical University in 2022 year, to determine the frequency and structure of disorders associated with Intrauterine growth retardation and malnutrition depending on the gestational age of term newborns for a differential approach in the management of children with Intrauterine growth retardation by neonatologists and paediatricians.

MATERIALS AND METHODS: There were analyzed 1000 hospital neonatal records of newborns children born at the Perinatal Centre of Level 3B of St. Petersburg State Pediatric Medical University in 2022 year. Of these, 55 term babies were born with Intrauterine growth retardation. The study examined the physical development of term newborns, determined the frequency and structure of disorders associated with intrauterine growth retardation and malnutrition, depending on the gestational age of term newborns.

RESULTS: Retardation of intrauterine growth and development in newborn children born in level 3B centres are represented by low body weight in relation to gestational age in 63.6% of cases, trophic disorders with normal body weight and reduced weight/length ratio in 34.6% of cases, and low height index with normal body weight in 1.8% of cases. Severe physical developmental disorders were found only in children with low body weight: in 13% of cases of low birth weight for gestational age, and in 55% of cases of small fetal size for gestational age.

CONCLUSIONS: the distribution of physical development disorders (ICD code P05.2) in term infants, depending on the degree of maturity has a linear trend and occurs with maximum frequency (50%) in late term newborns, which is associated with the onset of aging of the placenta and the intensification of existing, even compensated, placental insufficiency.

BACKGROUND: Currently, the attention of specialists is drawn to the relationship between non-alcoholic fatty liver disease and the development of reproductive disorders in both men and women. To better understand the etiology of these conditions and the mechanisms of pathogenesis, experimental models are being developed. A model using a hypercaloric diet containing increased amounts of carbohydrates is presented in this study.

AIM: The aim of this study is to study the effect of non-alcoholic fatty liver disease on the reproductive function of female Wistar rats.

MATERIALS AND METHODS: The study was conducted on 30 female Wistar rats, which were divided into two groups. The rats in the control group received standard nutrition. The non-alcoholic fatty liver disease model was reproduced in rats of the experimental group. To verify the diagnosis in the groups, changes in animal body weight, total cholesterol, triglycerides and glucose were assessed. After the diagnosis of non-alcoholic fatty liver disease was established, males were placed with the females to assess the females’ fertility.

RESULTS: Keeping animals on a high-carbohydrate diet led to obesity in the females of the experimental group. In rats with non-alcoholic fatty liver disease, a significant increase in the blood levels of total cholesterol and triglycerides, as well as glucose, was found. A significant decrease in the number of pregnancies was recorded in the group with non-alcoholic fatty liver disease. A decrease in the number of individuals in the offspring was also revealed.

CONCLUSIONS: The results of the experiment indicate that the use of a hypercaloric diet in rats causes the development of non-alcoholic fatty liver disease. Non-alcoholic fatty liver disease significantly reduces the fertility of female laboratory rats and reduces the number of individuals in the litter. This model can be used to study the causes of the development of the disease, as well as to better understand the mechanisms underlying reproductive dysfunction in patients.

BACKGROUND: Regular high-intensity exercise, combined with other stressors and lack of adequate recovery time, can cause a sustained pro-inflammatory response, leading to systemic inflammation and immune dysregulation.

AIM: The aim of this study is to establish the prognostic effectiveness of proinflammatory IL-1β, TNFα, IL-8, anti-inflammatory cytokine IL-4 and myokine IL-6 as markers of dysfunctional overstrain and overtraining in rowing athletes.

MATERIALS AND METHODS: A total of 47 male athletes aged 18–22 years were examined, specializing in rowing, 1^st category, candidates for master of sports. Of these, 28 were dynamic (4 times). The control group included 24 healthy donors, men aged 18–22 years. Cardiac overstrain was diagnosed based on 24-hour ECG data: identification of ventricular and supraventricular extrasystoles in the absence of organic changes in the heart. The content of cytokines in blood serum was determined using the Human Cytokine/Chemokine Magnetic Bead Panel 1 reagents (Merck, Millipore) on a MagPix device. The research results were processed using parametric statistics methods.

RESULTS: Rowing athletes show an increase in pro-inflammatory cytokines, which can be both a consequence of adaptive changes and a sign of long-term systemic inflammation. Determination of IL-6, IL-8, TNFα may be useful for assessing the body’s adaptation to training loads. The greatest changes in the level of pro-inflammatory cytokines are observed during the competitive period, and it should be taken into account that an increase in the anti-inflammatory cytokine IL-4 occurs in response to high levels of pro-inflammatory cytokines and is a sign of good adaptation.

CONCLUSIONS: The greatest importance in the diagnosis of non-functional cardiac overstrain in rowing athletes should be given to an increase in IL-1α and IL-6 and an increase in TNFα against the background of a decrease in IL-4.

This review summarizes and critically analyzes current data on the pathogenesis of urolithiasis (urolithiasis, nephrolithiasis). Emphasis is placed on such issues as: mechanisms of urinary stone formation; risk factors for stone formation; the role of oxidative stress; the chemical composition of renal stones (and especially oxalates); the role of Randall’s plaques, osteopontin, uromodulin (Tamm–Horsfall protein), α-enolase; and the mechanism of stone formation in the collecting ducts. Insufficiently studied issues of microbiota influence — (a) kidney and urinary tract and (b) gastrointestinal tract are also considered. Attention is paid to new approaches to understanding the pathogenesis and treatment of urolithiasis, namely works on genetics, epigenetics, genetic engineering and proteomics. The imperfection of existing animal models of urolithiasis is shown. The issue of application of androgen replacement therapy in the treatment of patients suffering from urolithiasis is considered separately. The author considers the main theoretical result of his work to be the approval of the idea of urolithiasis as a systemic disease, in which any significant deviation of the internal environment constants violates the delicate balance that ensures the solubility of substances in primary urine and their excretion with secondary urine. The practical result is to confirm the applicability of androgen replacement therapy in the treatment of patients suffering from urolithiasis.

BACKGROUND: Body dissatisfaction is widespread and is associated with eating disorders, anxiety, depression, low self-esteem. There is very little research on body dissatisfaction in normal weight adolescents, who make up the majority of all adolescents.

AIM: to establish the prevalence, degree, direction and factors associated with body dissatisfaction among adolescents with normal body weight.

MATERIALS AND METHODS: The study included tenth-graders of general education schools (n = 244, 64.3% girls), who underwent anthropometry and filled out questionnaires that included socio-demographic and lifestyle factors. Collins scales were used to assess body dissatisfaction, and the Russian version of the PedsQL 4.0 questionnaire (Lyon, France), was used to assess health-related quality of life. Self-esteem scores were obtained from the Rosenberg self-esteem scale.

RESULTS: The desire to have silhouettes different from the actual ones was reported by 57% of adolescents. 39.8% of adolescents had mild body dissatisfaction, moderate and severe — 17.2%. The frequency and degree of body dissatisfaction was comparable in adolescents of both sexes. Boys were much more likely than girls to consider themselves too thin and wanted to gain weight (49.4%), while 51.6% of schoolgirls would like to lose weight. Body dissatisfaction, even mild, was associated with significantly lower self-esteem. Moreover moderate/severe body dissatisfaction has been associated with a decline in all aspects of quality of life. In addition, significant associations of body dissatisfaction and the length of time on the Internet / social networks and at TV screens were established.

CONCLUSIONS: The results of the study substantiate the approach to body dissatisfaction as a problem that requires active identification and directed impact, and determine possible areas of preventive work with adolescents.