Suchasna pediatriia Ukrayina最新文献

{"title":"Pathomorphosis of chronic gastroduodenitis in children against the background of selenium deficiency","authors":"T. Sorokman, I. Sokolnyk, V. Ostapchuk","doi":"10.15574/sp.2023.129.35","DOIUrl":"https://doi.org/10.15574/sp.2023.129.35","url":null,"abstract":"Purpose - to investigate the clinical and paraclinical features of the course of chronic gastroduodenitis (CGD) in children against the background of selenium deficiency. Materials and methods. Clinical and laboratory examination of 63 children (main group) aged from 7 to 18 years old, patients with CGD and 20 healthy children (comparison group) of the appropriate age was carried out. Quantitative determination of selenium in blood plasma was carried out using inductively coupled plasma mass spectrometry (ICP-MS) on an Optima 2000 DV spectrometer (Perkin Elmer, USA). Results. The average level of selenium in the blood plasma of children with inflammation of the gastric mucosa and duodenum was 73.45±4.21 μg/l, in children of the comparison group - 85.42±5.44 μg/l (p<0.05). 14 children had a selenium concentration within the normal range, and 49 patients had a significantly reduced selenium level (p<0.05), while 9 had the lowest level and was 57.2±3.5 ng/ml. Moderate erythema was recorded 3 times less often and a pronounced degree of erythema was recorded 4.6 times more often, in 4 people (8.1%) atrophy of the mucous membrane of the stomach and/or duodenum was detected, subatrophy was more often recorded (16.3%), 36.7% were diagnosed with the second degree of granularity. Was typicalhad nocturnal and «hungry» pain (22.4%). Conclusions. In the vast majority of children (77.7%), CGD occurs against the background of selenium deficiency in blood plasma. A direct correlation between the concentration of selenium in the blood plasma of sick children and the stage and activity of gastroduodenitis was established. The longer the course of the disease, the lower the levels of selenium in children's blood plasma. There is a pathomorphosis of CGD in children against the background of selenium deficiency: night and «hungry» pain, diffuse damage to the mucous membrane with erosions and subatrophy, a long course with high inflammatory activity are more common. The research was carried out in accordance with the principles of the Helsinki Declaration. The study protocol was approved by the Local Ethics Committee of the participating institution. The informed consent of the patient was obtained for conducting the studies. No conflict of interests was declared by the authors.","PeriodicalId":34724,"journal":{"name":"Suchasna pediatriia Ukrayina","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-02-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44982985","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":"Application of the ketogenic diet in pediatrics: a range of possibilities","authors":"A. Pysariev, Y. Marushko, T. Kurilina, T.V. Мarushko","doi":"10.15574/sp.2023.129.41","DOIUrl":"https://doi.org/10.15574/sp.2023.129.41","url":null,"abstract":"Purpose - to describe the possibilities of using a ketogenic diet (KD) in the pediatric population for therapeutic purposes in refractory seizure syndrome and congenital metabolic disorders. The historical aspects of the development of special medical nutrition to achieve stable ketosis in children for the treatment of seizures of various genesis are briefly highlighted; the development of the evidence base for the effectiveness of the KD in children is presented. A review of current data on the multifactorial mechanisms of neuroprotective effects of KD is carried out. In particular, individual ways of modulating fundamental biochemical pathways, presynaptic and postsynaptic changes in vesicular transport and release of excitotoxic and inhibitory substrates at synapses are considered. Four types of diets are described according to the distribution of proteins, fats, and carbohydrates: the classic, modified Atkins diet, medium-chain triglyceride diet, and low glycemic index diet. The indications and contraindications for the appointment of medical ketogenic dietary therapy are considered. The most appropriate age periods of childhood for the type of KD are outlined to achieve maximum effectiveness. The authors describe in detail the main objectives of the stages of preparation of the child and family for the start of dietary treatment, the principles of initiation of KD, laboratory and instrumental monitoring and discontinuation of ketogenic dietary therapy. Particular attention is paid to the issue of counseling a child before starting a KD, the main steps in calculating the proportion of macronutrients and the principles of daily nutrition. The possibilities of prescribing medical ketogenic dietary therapy outside of refractory seizures, in particular, in glucose transaminase 1 deficiency syndrome, pyruvate dehydrogenase deficiency, mitochondrial disorders, heart failure, and brain injury, are analyzed. Available special products for medical purposes (clinical nutrition) for the organization of medical ketogenic therapy in pediatric patients, especially in the first years of life, are presented. No conflict of interests was declared by the authors.","PeriodicalId":34724,"journal":{"name":"Suchasna pediatriia Ukrayina","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-02-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47494125","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":"Hormone levels in adolescents with physiological and pathological course of puberty at different intensity of physical activity","authors":"L. Rak, D. Kashkalda, M. Vodolazhskyi","doi":"10.15574/sp.2023.129.28","DOIUrl":"https://doi.org/10.15574/sp.2023.129.28","url":null,"abstract":"Scientific evidence suggests a global pandemic of motor inactivity in adolescents that contributes to a number of chronic diseases. At the same time, regular physical activity has a favorable effect on the growth and sexual development of children and adolescents. Purpose - to evaluate the influence of physical activity (PA) on the hormonal blood spectrum of adolescents with physiological and pathological course of puberty. Materials and methods. We examined 55 boys and 46 girls aged 11-17 years old. Concentration of total testosterone, estradiol, cortisol, prolactin was determined by enzyme immunoassay, serotonin content was determined by fluorometric method. PA was studied using the questionnaire of IPAQ (International Physical Activity Questionnaire). Depending on the course of pubertal period adolescents were divided into 2 groups: the Group 1 - with physiological course of puberty; the Group 2 - with pathological course of puberty (boys with delayed puberty and girls with menstrual disorders). Adolescents were divided into 2 groups according to their PA level: low (<7 points) and high (>9 points) levels of PA. Results. It was found that in boys with a physiological course of puberty high PA compared with low activity leads to an increase in testosterone concentration and has a positive effect on physical development. High PA, on the contrary, decreases the content of testosterone in the pathological course of puberty and possibly aggravates puberty in boys. In girls high PA against the physiological course of puberty leads to an increase in serotonin, an indicator of the stress-limiting system. In the pathological course of puberty high PA has a positive effect, reducing the levels of testosterone and prolactin compared with low activity, which may contribute to the normalization of menstrual function, as well as reducing stress levels. Conclusions. Physical activity in adolescents should continue to be encouraged, given its positive effect on the hormonal blood spectrum. However, gender differences, pubertal development status and different mechanisms of adaptation to PA of girls and boys should be taken into account. It is very important to determine the optimal level of PA to meet the needs of children and adolescents, which would have a beneficial effect on both physical and psycho-emotional development. The research was carried out in accordance with the principles of the Helsinki Declaration. The study protocol was approved by the Local Ethics Committee of the participating institution. The informed consent of the patient was obtained for conducting the studies. No conflict of interests was declared by the authors.","PeriodicalId":34724,"journal":{"name":"Suchasna pediatriia Ukrayina","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-02-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46410543","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":"Using of emollients in children with atopic dermatitis (literature review)","authors":"O. Mochulska, T. Hariyan, I. Horishnyi, N. Yarema","doi":"10.15574/sp.2023.129.65","DOIUrl":"https://doi.org/10.15574/sp.2023.129.65","url":null,"abstract":"Modern external pharmacotherapy of atopic dermatitis in children should be etiopathogenetic and effects on the mechanisms of formation of allergic inflammation. External therapy of atopic dermatitis in children consists in the local application of emollients, glucocorticosteroids, antileukotriene, antihistamine medications, topical calcineurin inhibitors, in the case of complicated forms - antibacterial, antifungal, antiviral medications along with skin care. Eliminating dryness of the skin is the most important part of the external therapy of atopic dermatitis. Emollients are the main agents of the basic external therapy of atopic dermatitis, which perform the role of restoring and protecting the stratum corneum of the epidermis, maintaining hydro-lipid balance and preventing transepidermal water loss, reduce dryness, itching and peeling, have a glucocorticoid-saving effect, are used to achieve and maintain control over the symptoms of the disease. Emollients contain lipids and work through occlusion, trapping natural moisture in the skin, and/or through the properties of a humectant component that draws water from the dermis into the epidermis. Emollients are combined with local and systemic therapy of atopic dermatitis of any degree of severity, it should be used independently in the period of remission, increasing the duration of remission and preventing relapses. Purpose - to increase the awareness of doctors and patients about the current features of the use of emollients in atopic dermatitis in children. The use of emollients together with hydration and cleaning of the skin contributes to the restoration and preservation of a skin barrier function, reduces susceptibility to irritants and allergens. Emollients soften, smooth and rehydrate the skin, which helps to reduce unpleasant sensations, dryness, itching, inflammation at atopic dermatitis in children. A wide range of dosage forms of emollients, including cleansing agents for washing (gels, foams/mousses, soaps, solutions), as well as non-rinsable agents (lotions, creams, ointments, oils, emulsions), makes this group of medications available for a large number of patients with various clinical situations. Emollients can be used independently, as well as as adjuvant therapy with other topical or systemic agents at atopic dermatitis in children. The effective use of emollients improves the condition of the skin and has a positive effect on the quality of life. No conflict of interests was declared by the authors.","PeriodicalId":34724,"journal":{"name":"Suchasna pediatriia Ukrayina","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-02-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46231276","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":"A clinical case of infantile papular acrodermatitis or Gianotti-Crosti syndrome","authors":"V. Semianchuk, O. Synoverska, O. Tsymbalista, Z. Vovk, O. Bobrykovych","doi":"10.15574/sp.2023.129.95","DOIUrl":"https://doi.org/10.15574/sp.2023.129.95","url":null,"abstract":"Gianotti-Crosti syndrome is a kind of infectious exanthem. That is characterized by the appearance of monomorphic papules, which colour may be from the skin colour to pink-red ones. The most typical location is on the face, buttocks and extensor surfaces of the limbs. Over time, the rash disappears spontaneously and the medical treatment becomes symptomatic. Currently, the pathophysiological changes are not still thoroughly studied. It is clear that the syndrome represents an immunological response to the previous viremia and bacteraemia; perhaps, it is the delayed-type hypersensitivity reaction. Purpose - to acquaint doctors with criteria of the papular acrodermatitis for a timely diagnostic and a correct treatment strategy. Clinical case. There was a described clinical case of Gianotti-Crosti syndrome in a child of 2. The parents had complained about rashes on the face, limbs, buttocks for 6 weeks. The severe restlessness and itching of the skin had been present. During the whole time, the child was examined by various specialists. Alternative diagnoses were: an atopic dermatitis, a food allergy, a worm infestation. The child was prescribed local zinc-containing agents, systemic and local glucocorticosteroids, antiviral drugs, antibacterial therapy, antihistamines, sorbents, probiotics and a three-time course of deworming in the process of the treatment. The treatment have not had a positive therapeutic effect. Conclusions. Gianotti-Crosti syndrome is most common in childhood. At present, we consider it a self-limited disease that does not require specific treatment. Recent studies proved that the syndrome is more commonly associated with a variety of viral and bacterial pathogens. However, insufficient knowledge of papular acrodermatitis may lead to groundless and continuous examinations and treatment of children. The research was carried out in accordance with the principles of the Helsinki Declaration. The informed consent of the patient was obtained for conducting the studies. No conflict of interests was declared by the authors.","PeriodicalId":34724,"journal":{"name":"Suchasna pediatriia Ukrayina","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-02-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46556907","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":"Langerhans cell histiocytosis in a child with multisystemic lesions associated with infected poliomyelitis and SARS-CoV-2, features of diagnostics. Clinical case","authors":"O. Dorosh, O. Petronchak, Yu.S. Masynnyk, R. Guley, A. Dudash, N.O. Fesh, S. Tymchyshyn, H.O. Lytvyn","doi":"10.15574/sp.2023.129.72","DOIUrl":"https://doi.org/10.15574/sp.2023.129.72","url":null,"abstract":"Langerhans cell histiocytosis (LCH) is an abnormal clonal proliferation of Langerhans cells. The prognosis varies depending on the form of the disease and organ damage. Any organs and systems can be involved in the pathological process in various combinations. A poor response to standard therapy and an unfavorable prognosis are characteristic of patients with a multisystem form of LCH and involvement of organs at risk. Skin lesions are a classic sign of LCH. Purpose - to describe the complexity and duration of diagnosis of LCH with multisystem damage in a boy aged 2 years and 2 months, infected with poliomyelitis and coronavirus. Clinical case. The first clinical manifestations of LCH in the child debuted with an eczematous-seborrheic rash on the scalp with spread to the limbs and trunk. The child was treated for toxicoderma, hemorrhagic vasculitis at the place of residence for 6 months. The boy lost 1.5 kg of body weight in 1 month. At the time of hospitalization, seborrheic-eczematous rashes on the skin with a hemorrhagic component, trophic-inflammatory changes in the nails of the hands, signs of protein-energy deficiency, stomatitis, gingivitis, hepatosplenomegaly, polyserositis, diabetes insipidus, osteolytic foci of the frontal bones were found. Results of the tests: anemia, thrombocytopenia, hypoproteinemia and hypoalbuminemia, coagulation disorders. The patient had the onset of lower flaccid paraparesis, muscle hypotonia. The boy was diagnosed with a number of infectious complications, including poliomyelitis (a derivative of vaccine poliovirus type 2), COVID-19. The child received LCH-III cytostatic therapy with a positive effect. The research was carried out in accordance with the principles of the Helsinki Declaration. The informed consent of the patient was obtained for conducting the studies. No conflict of interests was declared by the authors.","PeriodicalId":34724,"journal":{"name":"Suchasna pediatriia Ukrayina","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-02-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44270107","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":"Fever in children under 5 years of age: how safe is home teleconsultation","authors":"S. Mokia-Serbina, T. Mavropulo, T. Lytvynova","doi":"10.15574/sp.2023.129.51","DOIUrl":"https://doi.org/10.15574/sp.2023.129.51","url":null,"abstract":"The use of home teleconsultation in outpatient pediatric practice has become widespread in many countries over the world, regardless of their economic situation. Each country has its own experience in the practical implementation of home teleconsultation in medical care for patients, but the issue of increasing its effectiveness remains topical. Purpose - to consider the issue of improving the efficiency and safety of home teleconsultation for children under 5 years old with fever. Materials and methods. The terms «home teleconsultation», «telemedicine sorting», «children», «fever» were searched using Pub Med Central databases. The data of the regulatory and legal protocols in Ukraine were taken into account while determining the recommendations. Results. Research in recent years proves that new forms of communication between a doctor and a patient, his parents or guardians create both additional opportunities and risks regarding various aspects of the quality of medical care. According to the data of literary sources, conclusions were made that the quality of home teleconsultation for children under 5 years of age is affected by: social and ethical features of communication with children and their parents; lack of standards/scenarios for telephone consultation for a specific pathology; lack of appropriate professional training of doctors. The article provides measures to improve home teleconsultation: the use of telesorting scenarios (NICE protocol/standard for children under 5 years with fever) using a «traffic light system», alarm symptoms («red flags») to predict the risk of serious illness and taking into account the availability of the use of the «safety net». There is a well-founded need for professional training of medical workers in the field of telemedical consultation. Conclusions. The implementation of home teleconsultation services in outpatient pediatric practice in situations where a child’s condition is assessed by a medical professional who cannot examine him because the child is geographically distant will contribute to a faster setting of priorities for the provision of primary medical care. In today’s environment, the NICE (2021) protocol/standard for the assessment and initial treatment of fever in children under 5 years of age is a clinical scenario that meets the requirements for home teleconsultation. The introduction of the leading international experience of organizing home teleconsultation for children under 5 years of age is the basis for improving programs of continuous professional experience of medical workers who provide assistance to children. No conflict of interests was declared by the authors.","PeriodicalId":34724,"journal":{"name":"Suchasna pediatriia Ukrayina","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-02-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45088969","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":"Assessment of quality of life in children with a combination of functional dyspepsia and irritable bowel syndrome","authors":"O. Belousova, T. Zimnytska, L. Kazaryan","doi":"10.15574/sp.2023.129.23","DOIUrl":"https://doi.org/10.15574/sp.2023.129.23","url":null,"abstract":"The prevalence of functional gastrointestinal disorders (FGID) in children ranges from 19% to 40%, depending on age. The combination of functional dyspepsia (FD) and irritable bowel syndrome (IBS) is detected in 15-44.6% of patients with FGID. Their course is characterized by more pronounced clinical symptoms: abdominal pain, which is combined with flatulence, nausea, difficulty in defecation or diarrhea, impaired stool consistency, feeling of incomplete bowel movement and deterioration in quality of life. Purpose - to assess the quality of life in children with a combination of FD and IBS to optimize therapy. Materials and methods. The study included 44 children with a combination FD and IBS aged 6 to 18 years (the main group). The control group consisted of 30 practically healthy children of the same age. Diagnoses of FD and IBS were made on the basis of clinical symptoms according to the Rome criteria IV (2016). A survey of children and their parents was conducted using the international questionnaire PedsQL™ 4.0 (Pediatrics Quality of Life Inventory), which is one of the most popular questionnaires in the world, has proven to be a simple, reliable, sensitive method for studying the quality of life of healthy and sick children of different ages (2-17 years). The questionnaire has general scales, but there is a separate version of the PedsQL™4.0 Generic Core Scales, which describes physical, emotional, social, and role functioning. Results. It was established that indicators of physical, emotional, social and school functioning and, as a result, indicators of psychosocial functioning and the overall quality of life assessment are significantly reduced in children with combined FD and IBS compared to the control group. Conclusions. Quality of life studies are an important component of a comprehensive assessment of the overall condition of a child with comorbid FD and IBS to prevent the development of these disorders, to improve quality of life, to reduce the time and cost of assessment, and to optimize therapy. The research was carried out in accordance with the principles of the Declaration of Helsinki. The Local Ethic Committee of the institution specified in the work adopted the study protocol. Informed consent of the children’s parents was obtained for the research. No conflict of interests was declared by the authors.","PeriodicalId":34724,"journal":{"name":"Suchasna pediatriia Ukrayina","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-02-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48938987","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":"Morphofunctional features of tissues and blood in rats against the background of experimental diabetes mellitus","authors":"","doi":"10.15574/sp.2023.129.99","DOIUrl":"https://doi.org/10.15574/sp.2023.129.99","url":null,"abstract":"Introduction. Increased susceptibility to infections in patients with type 1 diabetes mellitus is associated with impaired body protective functions as a result of suppressed immunity, increased cellular adhesion of microorganisms, susceptibility to catabolic processes. Purpose - to determine the morphofunctional features of tissues and blood in rats against the background of experimental diabetes mellitus (EDM); to investigate the effect of the extract of seven medicinal plants BNO 1030 in them. Materials and methods. Experimental studies were conducted on 20 male Wistar rats in order to determine their level of nicotineamideadeninedinucleotide (NAD), reactive oxygen species in white blood cells and superoxide dismutase. All animals were separated: the Group 1 was the control group of healthy rats, the Group 2 - the control group receiving BNO 1030 extract, the Group 3 included animals with the EDM without treatment, the Group 4 - rats with the EDM, which received the BNO 1030 extract. Results. After 6 weeks of development of the EDM, the NAD blood level in diabetic rats was reduced and reached (0.270±0.017) µmol/L, which is lower than that in the control group ((0.357±0.021) µmol/L). The group of diabetic rats treated with BNO 1030 extract showed its increase to (0.341±0.012) μmol/L compared to the group of diabetic animals, which did not receive the drug. While assessing the viability of white blood cells, it has been established that the death of most of these cells occurs by apoptosis against the background of the EDM. When BNO 1030 was used in the group of diabetic rats, the level of apoptotic cells decreased and amounted to 13.7% compared to the group, which was not administered with the drug (20.8%). In addition, the level of apoptosis in control rats, which also received BNO 1030, decreased by 3% versus the control group. Conclusions. The reduction of NAD content in tissues and blood in experimental animals with the EDM was determined, and its increase by 24% following the administration of BNO 1030 was established, which proves positive effect of the drug on the course of energy processes and glycolysis - the main route of carbohydrate metabolism. When carrying out experiments with laboratory animals, all bioethical norms and recommendations were observed. No conflict of interests was declared by the authors.","PeriodicalId":34724,"journal":{"name":"Suchasna pediatriia Ukrayina","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-02-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44520571","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":"Evaluation of the risk of development of Growth hormone deficiency depending on the distribution of frequency of alleles and genotypes of the polymorphic locus rs1544410 BsmI of the vit D receptor gene","authors":"O. Bolshova, М. Ryznychuk, D. Kvacheniuk, N. Sprynchuk, І.V. Lukashuk, V. Pakhomova, Т.М. Malinovska, О.А. Vyshnevska, О.Ja. Samson","doi":"10.15574/sp.2023.129.16","DOIUrl":"https://doi.org/10.15574/sp.2023.129.16","url":null,"abstract":"Growth hormone deficiency (GHD) is a disease caused by a significant disturbance in the growth hormone (GH) /growth factor system, it occures as a result of various hereditary or acquired causes and is characterized, first of all, by a significant delay in the child's growth and physical development. GHD can be isolated or combined with deficiency of other adenohypophysis hormones. The presence of a relationship between the GH /growth factor system and vitamin D (vit D) determines the involvement of genetic changes in the vit D receptor (VDR) in the pathogenesis of GHD. Purpose - to assess the risk of developing GHD based on the investigation of the distribution of allele frequencies and genotypes of the polymorphic locus rs1544410 BsmI of the VDR gene. Materials and methods. The determination of VDR BsmI gene (rs1544410) polymorphism was performed using the polymerase chain reaction method, followed by analysis of the length of restriction fragments upon their detection by agarose gel electrophoresis in 22 prepubertal children with GHD. The serum 25-hydroxycalciferol (25(OH)D) level was determined by immunochemiluminescent method on microparticles (Abbott, USA). Results. G/A allele was most often found in children with isolated GHD and multiple pituitary insufficiency (MPH) (43.8% and 83.3%, respectively). In the presence of G/A and G/G genotypes, the risk of GHD is reliably high: OR=3.60 (95% CI 1.40-9.23); OR=10.69 (95% CI 2.34-48.85) respectively; with the A/A genotype variant the risk of GHD is reliably low OR=0.11 (95% CI 0.04-0.33). Carrying the G allele of the polymorphic locus rs1544410 Bsm I of the VDR gene is associated with the risk of developing GHD OR=5.58 (95% CI 4.51-6.90; p<0.001). A significantly difference in the peak GH release was established in patients carrying the G/G and A/A, G/G and G/A alleles. 83.33% of children with MPH and 68.49% with isolated GHD had hypovitaminosis D. Vit D deficiency was recorded in carriers of all three types of alleles. Conclusions. In the presence of G/A and G/G genotypes, the risk of GHD increases, in the presence of the A/A genotype, it decreases. The G allele carrier of the polymorphic locus rs1544410 Bsm I of the VDR gene is associated with the risk of developing GHD OR=5.58 (95% CI 4.51-6.90; p<0.001), despite the ideal distribution of genotypes. The research was carried out in accordance with the principles of the Helsinki Declaration. The study protocol was approved by the Local Ethics Committee of all participating institutions. The informed consent of the patient was obtained for conducting the studies. No conflict of interests was declared by the authors.","PeriodicalId":34724,"journal":{"name":"Suchasna pediatriia Ukrayina","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-02-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43876742","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}