CHILD`S HEALTHPub Date : 2023-11-05DOI: 10.22141/2224-0551.18.6.2023.1640
A.E. Abaturov, V.L. Babуch
{"title":"Regulation of microRNA with food. Part 1. Food of plant origin","authors":"A.E. Abaturov, V.L. Babуch","doi":"10.22141/2224-0551.18.6.2023.1640","DOIUrl":"https://doi.org/10.22141/2224-0551.18.6.2023.1640","url":null,"abstract":"Тhe scientific review presents the mechanisms of microRNA regulation of biological processes in the human body with the help of food products of plant origin. To write the article, information was searched using Scopus, Web of Science, MedLine, PubMed, Google Scholar, EMBASE, Global Health, The Cochrane Library databases. The obtained information on dietary microRNAs is organized into the Dietary MicroRNA Databases (http://sbbi.unl.edu/dmd/), which is a repository for archiving and analyzing structural and functional microRNAs that enter the human body with food. It is stated that exogenous plant miRNAs entering the body with food are present in blood serum, tissues of humans and various animals, and regulate the expression of target genes. More than 50 miRNAs of plant origin have been identified in human blood serum using next-generation sequencing. The authors list some representatives from the multitude of dietary plant miRNAs. It is emphasized that several miRNAs show their functional activity both in plants and in mammals and easily overcome physiological barriers (miR-155, miR-168 and miR-854). Scientists believe that the ambiguous effect of plant products on the expression of human microRNA was shown by the results of a study conducted in vegetarians. Thus, with a comprehensive review using the latest information search databases, it was found that in modern scientific literature, the authors determine the horizontal transfer of numerous microRNA molecules from plants to the human body. Exogenous xenogenic xenomiRs are identified in most samples of human tissues and biological fluids. Entering the body together with food, they can significantly change the structure of the human transcriptome. Food products not only bring xenogeneic miRNAs, but also act as modulators of the endogenous miRNA generation by cells of the human body.","PeriodicalId":338009,"journal":{"name":"CHILD`S HEALTH","volume":"81 3","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-11-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135725272","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Changes of immunological biomarkers in pediatric patients with seasonal allergic rhinitis","authors":"V.V. Shcherbak, T.O. Kryuchko, L.M. Bubyr, O.V. Izmailova, O.A. Poda","doi":"10.22141/2224-0551.18.6.2023.1630","DOIUrl":"https://doi.org/10.22141/2224-0551.18.6.2023.1630","url":null,"abstract":"Background. Seasonal allergic rhinitis shows a constant upward trend not only among the adults but also in the children’s population. A significant percentage of patients have a moderate and severe course of the disease, which leads to a significant deterioration in their quality of life. Since the pathogenesis of allergic rhinitis is represented by a complex cascade of immunological reactions involving a number of cytokines that play a role in the development of allergic inflammation of the upper respiratory tract, the priority direction of our work was an in-depth study of the pathogenetic mechanisms of this disease. The purpose was to investigate the levels of interleukin-33 (IL-33) and its suppression of tumorigenicity 2 (ST2) receptor in the blood serum of children with hay fever, depending on the age and severity of the disease, followed by the determination of correlations of these indicators with various clinical and immunological parameters of seasonal allergic rhinitis. Materials and methods. Forty-two patients aged 6–17 years with seasonal allergic rhinitis and 26 healthy children (controls) took part in the study. Severity of nasal and extra-nasal symptoms of allergic rhinitis was determined using a visual analog scale. Skin prick testing was performed according to generally accepted standards during remission using a standard pollen panel. Quantitative measurement of serum indicators of interleukin-33 and ST2 was carried out by the method of solid-phase enzyme immunoassay. A mandatory condition for conducting the study was the presence of written informed consent from the parents. Results. The study of serum levels of IL-33 and ST2 showed statistically higher concentrations in the group of children with a severe course of seasonal allergic rhinitis, a direct correlation of medium strength between content of the above cytokines in children with a mild SAR (τ = 0.65; p < 0.05) and a strong dependence in patients with moderate (τ = 0.76; p < 0.01) and severe (τ = 0.80; p < 0.05) course. When comparing the mean values of IL-33 and ST2, no significant changes were found depending on age and the presence of mono- or polysensitisation among patients with allergic rhinitis. In children with seasonal allergic rhinitis and concomitant bronchial asthma, there was a statistically significant tendency towards a more severe course of the disease with correspondingly higher values of IL-33 and ST2 compared to patients with isolated seasonal allergic rhinitis. Conclusions. The obtained results of the immunological study made it possible to emphasize the diagnostic significance of IL-33 and its receptor ST2 as potential biomarkers in the development of allergic inflammation in pediatric patients with seasonal manifestations of rhinitis.","PeriodicalId":338009,"journal":{"name":"CHILD`S HEALTH","volume":"37 7","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-11-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135725565","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Impact of stress on adolescents during puberty (part 2)","authors":"L.A. Strashok, L.I. Rak, H.M. Danylenko, A.V. Yeshchenko, V.L. Kashina-Yarmak, E.M. Zavelya, M.Yu. Isakova","doi":"10.22141/2224-0551.18.6.2023.1635","DOIUrl":"https://doi.org/10.22141/2224-0551.18.6.2023.1635","url":null,"abstract":"The second part of the presented article provides information on the activity of the pituitary, adrenal and sex glands in puberty and during stressful conditions. The relationship between hormones and neurotransmitters that ensure the activity of the body is described in detail, in particular, the effects of follicle-stimulating, luteinizing hormones, prolactin, somatotropic and adrenocorticotropic hormones, melatonin, cortisol, adrenaline and norepinephrine, estrogens, testosterone, etc. are given. The data of our own studies on the influence of physical activity of varying intensity (as a stress-modulating factor) on adolescents with different course of the puberty are presented. They confirmed a close relationship between the course of puberty and stress-dependent neuroendocrine factors, showed gender differences in the mechanisms of regulation during puberty. Particular attention in the article is focused on the main pathological conditions and diseases that can be provoked by severe or prolonged stress in adolescence. Features of the course of stress reactions in adolescents are associated with the still incomplete remodeling of regulatory structures. Along with increased vulnerability to stress factors, there is a high adaptive plasticity and vitality. Understanding the mechanisms of interaction between the neuroendocrine effects of stress and the restructuring of the body caused by puberty can contribute to the development of effective medical care measures to preserve the somatic and mental health of adolescents and maintain optimal resilience in adolescence.","PeriodicalId":338009,"journal":{"name":"CHILD`S HEALTH","volume":"86 2","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-11-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135725248","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
CHILD`S HEALTHPub Date : 2023-11-05DOI: 10.22141/2224-0551.18.6.2023.1633
T.G. Berezna, O.B. Synoverska, N.M. Fomenko
{"title":"Biliary sludge syndrome induced by cephalosporins in children: clinical and diagnostic markers, management","authors":"T.G. Berezna, O.B. Synoverska, N.M. Fomenko","doi":"10.22141/2224-0551.18.6.2023.1633","DOIUrl":"https://doi.org/10.22141/2224-0551.18.6.2023.1633","url":null,"abstract":"Biliary sludge can occur when taking medicines (oral contraceptives, cephalosporins, octreotide, furosemide, clofibrate, morphine, calcium preparations, etc.). In particular, 30–40 % of ceftriaxone, which is widely used in pediatric inpatient practice, is excreted with bile, 5–15 % of all side effects of the drug are due to biliary sludge. The mechanism of ceftriaxone-associated biliary sludge is due to the fact that ceftriaxone competes with bilirubin for albumin, which induces an increase in unconjugated bilirubin in the blood. The drug enters the bile in the form of a divalent anion, binds to calcium in ceftriaxone-calcium complexes with inclusions of cholesterol monohydrate crystals and bilirubinate granules. In patients taking cephalosporins, when complaints from the gastrointestinal tract appear, ultrasound screening is mandatory. Children with a family history of gallstone disease and risk factors should undergo ultrasound screening on the 10th day and 1 month after treatment with cephalosporins, even in the absence of complaints. The administration of ursodeoxycholic acid leads to a significant regression of clinical symptoms of biliary sludge and objective ultrasound signs in 2/3 of children after 2 months.","PeriodicalId":338009,"journal":{"name":"CHILD`S HEALTH","volume":"85 3","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-11-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135725252","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
CHILD`S HEALTHPub Date : 2023-11-05DOI: 10.22141/2224-0551.18.6.2023.1634
O.R. Boyarchuk, I.M. Antoniuk
{"title":"A patient-centered care for the management of children with rare diseases: collaboration between physicians, nurses, and patients","authors":"O.R. Boyarchuk, I.M. Antoniuk","doi":"10.22141/2224-0551.18.6.2023.1634","DOIUrl":"https://doi.org/10.22141/2224-0551.18.6.2023.1634","url":null,"abstract":"The purpose of our study was to determine the effective strategies of patient-centered care for children with rare diseases and the role of healthcare professionals’ collaboration with patients in implementing this approach. Patient-centered care, which revolves around respecting patients’ values, preferences and needs, involving their families and friends, coordinating and integrating the care, promoting awareness, communication, and education, ensuring physical comfort, emotional support, and reducing fear and anxiety of patients, continuity and accessibility, has emerged as the most effective model of medical care for patients with rare diseases. To successfully implement this approach, it is crucial to have a targeted institutional policy with the active involvement of both institutional leaders and healthcare professionals in cooperation with patient organizations. This collaboration helps understand and address patients’ needs, set specific goals and objectives, and enhance medical staff education and patient awareness, which are integral to the effectiveness of the approach. Family-oriented rounds as a form of patient-centered care contribute to increased patient satisfaction, improved communication between medical staff and patients/families, reduced stress levels associated with hospitalization, increased patient awareness and safety, and facilitate collaborative decision-making regarding diagnosis, treatment, and discharge planning. Coordination of care for patients with rare diseases is a fundamental aspect of integrated care across different levels. Through collaboration between the medical community and patient organizations, significant progress has been made in improving the diagnosis and treatment of rare disease patients, implementing evidence-based treatment standards, and incorporating best global practices. The cooperation with international professional and patient organizations since the first days of Russian aggression against Ukraine has been invaluable in saving the lives of patients with rare diseases and serious conditions.","PeriodicalId":338009,"journal":{"name":"CHILD`S HEALTH","volume":"87 4","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-11-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135725416","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
CHILD`S HEALTHPub Date : 2023-11-05DOI: 10.22141/2224-0551.18.6.2023.1627
O. Bielova, S. Konopliasta
{"title":"Functionality of oral and articulatory praxis in older preschool children with logopathology","authors":"O. Bielova, S. Konopliasta","doi":"10.22141/2224-0551.18.6.2023.1627","DOIUrl":"https://doi.org/10.22141/2224-0551.18.6.2023.1627","url":null,"abstract":"Background. The purpose of this study is to identify the current state of neuromotor functionality of oral and articulatory praxis, which affects speech readiness for schooling, in older preschool children with logopathology. Materials and methods. Research methods are aimed at studying the kinesthetic and kinetic oral and articulatory praxis. Kinesthetic oral praxis is studied during the diagnosis of static articulatory motility. Kinetic praxis was evaluated when investigating dynamic articulatory switching from one movement to another. The study of kinesthetic articulatory praxis takes place during the diagnosis of sound speech. To evaluate the results of the task, all sounds are conditionally divided into groups: whistling, hissing, sonorous, iotated sound combinations and all other sounds. To study the kinetic articulatory praxis, we investigated the sound-syllabic structure of the word. Results. The results of the experimental study give a clear idea that there are significant differences in the formation of neuromotor functionality of oral and articulatory praxis between the groups of children with logopathology and those with normotypical psychophysical development. In older preschool children with speech disorders, low abilities were found when performing tasks of kinesthetic and kinetic praxis: oral (problematic switching of the articulators; long search for an articulatory posture, incomplete range of motion, deviation from configurations, presence of synkinesis, hyperkinesis), articulatory (defect of all sounds of groups; replacement, mixing, distortion or absence of individual sounds during their isolated pronunciation; distortion of the sound-syllabic structure of words). Children are passive during classes, they need constant support from the teacher. Conclusion. The revealed unformed state of neuromotor functionality of oral and articulatory praxis in older preschool children with speech disorders affects the development of their speech skills. This will lead to the difficulties during their mastery of educational material in institutions of general secondary education.","PeriodicalId":338009,"journal":{"name":"CHILD`S HEALTH","volume":"86 3","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-11-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135725247","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
CHILD`S HEALTHPub Date : 2023-11-05DOI: 10.22141/2224-0551.18.6.2023.1639
K. Antonovičs, A. Lejnieks, J. Salaks
{"title":"Pediatric surgical contributions of Professor Aleksandrs Biezins: an analysis of clinical and academic activities abroad","authors":"K. Antonovičs, A. Lejnieks, J. Salaks","doi":"10.22141/2224-0551.18.6.2023.1639","DOIUrl":"https://doi.org/10.22141/2224-0551.18.6.2023.1639","url":null,"abstract":"Background. The relevance of the study of the trips of Professor Aleksandrs Biezins lies in the need to highlight the most important trips for the professor, which affected his further studies, as well as the features of the application of his methods in medicine. The purpose of the article is to study the activities of Aleksandrs Biezins, his achievements, and successes in the field of pediatric surgery, as well as other areas of medicine for a more in-depth description of the outstanding surgeon. Materials and methods. The main methods used in the article include historical and analytical ones. Results. The main results are the study of the professor’s professional activities abroad, as well as within his main place of work. Medical surgeon, Aleksandrs Biezins (1897–1975), called the founder of pediatric surgery, actively practiced it and worked in the development of medicine and science, is one of the most prominent figures in pediatric surgery and medicine. The use of the information obtained in the study will be useful for a deeper and more detailed study of the work of the professor, as well as for studying the interaction of surgeons with Aleksandrs Biezins in the early and middle of the 21st century. Conclusions. In addition to his practical work in pediatric surgery and science, education of young physicians, for the scientific purposes of his missions, he was an active participant in medical forums, congresses, conferences in pediatrics, pediatric surgery, sports pedagogy, as well as actively trained in various foreign clinics.","PeriodicalId":338009,"journal":{"name":"CHILD`S HEALTH","volume":"88 5","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-11-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135725408","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Features of pyelonephritis course in adolescent females with co-existing anаemic syndrome","authors":"I.S. Lembryk, I.V. Shlimkevych, A.B. Stefanyshyn, O.V. Zhyliak, N.I. Kostyrko","doi":"10.22141/2224-0551.18.6.2023.1629","DOIUrl":"https://doi.org/10.22141/2224-0551.18.6.2023.1629","url":null,"abstract":"Background. Anaemic syndrome of complex origin is not uncommon in urinary tract infection, particularly in dietary non-adherence, menstrual cycle disorders, or concomitant digestive diseases, recurrent respiratory infections, etc. However, there is currently insufficient epidemiological data on this comorbidity in the literature. This study aims to establish the features of pyelonephritis course in its combination with anaemic syndrome in children. Materials and methods. We analysed the medical records of 200 children aged 0 to 17 years with acute non-complicated pyelonephritis, complicated and recurrent urinary tract infections for 2012–2017. In the second stage of our work, we comprehensively examined 85 girls aged 11 to 17 who underwent inpatient treatment between 2018 and March 2023. Thirty children of the same age and gender made up the comparison group. A paediatric gastroenterologist, a paediatric gynaecologist and/or urologist examined all patients. Immunochemical method with electrochemiluminescence immunoassay was used to assess ferritin content; also, serum iron and total iron-binding capacity were measured. Results. Anaemic syndrome is common in most girls with urinary tract infections (58.8 % of сases). Among the causes, the following are distinguished: menstrual cycle disorders with abnormal uterine bleeding (50.0 %), chronic digestive disorders, in particular malabsorption syndrome of unknown origin (25.0 %), recurrent bronchopulmonary disorders (15.0 %), and unbalanced diet (10.0 %). The features of urinary tract infections and concomitant iron deficiency in children include fatigue (55.0 % in acute non-complicated pyelonephritis vs. 40.0 % in complicated urinary tract infections, р < 0.05), dizziness (35.0 % in acute non-complicated pyelonephritis vs. 15.0 % in recurrent urinary tract infections, χ2 = 48.6532, р < 0.05), and pallor (25.0 % in complicated urinary tract infections vs. 10 % in recurrent urinary tract infections, χ2 = 0.7168, р > 0.05). The ferritin level was the highest in patients with complicated urinary tract infections (18.2 µg/mL). In patients with recurrent urinary tract infections, this indicator was the lowest — 5.0 µg/mL. Conclusions. Retrospective analysis of medical records confirmed the presence of anaemia in 30.0 % of girls with inflammatory kidney diseases. During the physical examination, 58.8 % of female adolescents with urinary tract infections had signs of anaemic syndrome.","PeriodicalId":338009,"journal":{"name":"CHILD`S HEALTH","volume":"87 3","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-11-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135725417","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Experience of training and certification in pediatric disciplines of students majoring in 222 “medicine” specialty","authors":"O.P. Volosovets, O.M. Naumenko, R.S. Tsymbaliuk, S.P. Kryvopustov, N.V. Grischenko, O.V. Mozyrska, I.O. Loginova, T.I. Shevtsova, O.F. Chernii, S.D. Saltanova, O.L. Kovalchuk, M.V. Kryvopustova","doi":"10.22141/2224-0551.18.6.2023.1632","DOIUrl":"https://doi.org/10.22141/2224-0551.18.6.2023.1632","url":null,"abstract":"Certification of graduates of the Faculty of Medicine 2 of the National Medical University (NMU) in pediatric disciplines was conducted by the Department of Pediatrics 2 at the objective structured practical (clinical) exam 2 (OSP(C)E-2) station “Initial and resuscitation care to a newborn child” on the basis of the Educational and Scientific Center of Medical Simulations of the NMU. The methodology that we introduced in 2022 in the Medical Education journal was presented and approved at the methodical meeting of the heads of departments of pediatrics of higher education institutions of Ukraine during the Sidelnikov readings. The data of an anonymous survey of graduates demonstrated that most respondents (93.4 % of domestic and 91.9 % of foreign ones) were satisfied with the volume of the station and its practical orientation. The students noted that during preparation to exam, this particular model of the station allows them to master, when using mannequins, manipulations according to the algorithm of initial and resuscitation care to a newborn child, which can be useful under various circumstances in wartime conditions. Out of 338 students of the Faculty of Medicine 2, 303 (89.6 %) passed the OSP(C)E-2 exam with an “excellent” grade, 32 (9.4 %) with a “good” grade, and 3 (0.9 %) with a “satisfactory” grade. The issue of optimality and adequacy of assessing only the skills in initial and resuscitation care to a newborn child at the OSP(C)E-2 exam remained debatable among teachers. This corresponds to the opinion of 8.1 % of domestic and 6.6 % of foreign students who believe that for perfection and objectivity of pediatric skills assessment, it would be desirable to introduce one more pediatric station for the OSP(C)E-2 exam with the involvement of a virtual a patient of a different age. Experience of certification in pediatric disciplines of higher education graduates majoring in 222 “medicine” specialty at the Bogomolets National Medical University, both teachers and students, testified to its effectiveness and objectivity in assessing the special competencies of graduates in providing resuscitation care to a newborn child.","PeriodicalId":338009,"journal":{"name":"CHILD`S HEALTH","volume":"88 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-11-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135725413","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Modern treatment of epileptic encephalopathies in young children: improvement of precision medicine","authors":"L.G. Kirilova, O.O. Miroshnikov, O.E. Abaturov, N.V. Medvedovska, Yu.G. Antipkin, N.Y. Bondarenko","doi":"10.22141/2224-0551.18.5.2023.1610","DOIUrl":"https://doi.org/10.22141/2224-0551.18.5.2023.1610","url":null,"abstract":"Background. Treatment of epileptic seizures in young children, especially with epileptic encephalopathies (EE), is a difficult task, which is impossible in modern conditions without the use of a personified (precision) therapy. The diagnostic algorithm for EE must include genetic examination by the next-generation sequencing, which makes it possible to prescribe targeted therapy depending on the genetic etiology of the disorder. The article presents the results of own research on the effectiveness and approaches to targeted therapy of genetic epileptic encephalopathies in young children. Materials and methods. Fifty-eight children aged 0–3 years with clinical manifestations of epileptic encephalopathies, onset of seizures in the first year of life and diagnosed genetic etiology were included in the study. Pathogenic variants in genes associated with the development of epileptic seizures were identified in all children using the next-generation sequencing. The study included assessment of neurological status, history collection, evaluation of semiology and seizure type, development and screening for autism spectrum disorders at the age of 18 and 24 months, video-electroencephalography during night sleep, magnetic resonance imaging of the brain, assessment of antiepileptic treatment received by the child. Results. Of 58 children with EE who were prescribed antiepileptic drugs, 10 (17.2 %) received monotherapy, 40 patients (69 %) received combined therapy with two anticonvulsants, and 8 children (13.8 %) — combined therapy with three or more anticonvulsants. Levetiracetam (31 patients), valproic acid salt preparations (20 cases), topiramate (11 children) and vigabatrin (10 cases) were most used antiepileptic drugs. In all examined patients with EE, we used schemes of targeted (personalized) antiepileptic therapy focused on the genetic etiology of the disorder. In children with tuberous sclerosis caused by mutations in the TSC1 and TSC2 genes, vigabatrin (50–150 mg/kg per day) was included in the antiepileptic therapy and showed efficacy in 75.0 % (9/12) of children with infantile spasms. Corticosteroids (adrenocorticotropic hormone or prednisone) were additionally included in the treatment regimen and showed effectiveness in 66.7 % of cases (4/6). In children with mutations in SCN1A gene, combined therapy including valproic acid, topiramate and clobazam, or valproic acid with levetiracetam and corticosteroids was used, which showed effectiveness in reducing the frequency of seizures in 100 % of cases. Conclusions. Epileptic encephalopathies are a heterogeneous group of genetic disorders in young children that are difficult to treat and often have a malignant course. Since standard antiepileptic drugs are often insufficiently effective in epileptic encephalopathies, the use of targeted therapy drugs and alternative treatments such as hormone therapy are extremely important. The goal of treatment for epileptic encephalopathies is not only to control","PeriodicalId":338009,"journal":{"name":"CHILD`S HEALTH","volume":"33 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-09-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135257765","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}