Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics)最新文献

{"title":"Genetic determinants of obesity in adolescent girls","authors":"N. V. Evdokimova, L. D. Shogiradze, A. A. Pokhlebkina, Yu. V. Petrenko, E. A. Mikhnina, V. P. Novikova, R. I. Glushakov, N. D. Prokhorova, A. S. Buntovskaya, A. E. Trandina, V. F. Bezhenar","doi":"10.21508/1027-4065-2024-69-2-65-71","DOIUrl":"https://doi.org/10.21508/1027-4065-2024-69-2-65-71","url":null,"abstract":"Significant progress in understanding the genetic contribution in obesity and its prevalence at all ages has been achieved since existing methods of treatment and preventive measures aimed at combating obesity are not effective enough.Purpose. To study the prevalence of pathologic single nucleotide polymorphisms rs6265 of the brain neutrophic factor gene BDNF; rs1137101 of the leptin receptor gene LEPR; rs9939609 of the gene, associated with fat mass, FTO; rs4762 and rs699 of angiotensinogen AGT gene; rs1799883 of fatty acid transporter gene FABP2; rs1801282 of PPARG2 gene in obese adolescent girls.Material and methods. 72 teenage girls aged 12–17 years were examined. Group 1 consisted of 36 obese children (standard deviation coefficient SDS BMI ≥ 2.0), group 2 — 36 non-obese children (SDS BMI <1.0). Anthropometric, molecular genetic, and statistical methods were used.Results. In obese adolescent girls, an association was detected with only one gene — PPARG2, a polymorphic locus (Pro/Pro). The prevalence rate of the C allele in group 1 was 80%, in group 2 — 3% (p<0.05). No statistically significant differences in the frequencies of genotypes and alleles of other genes in children with obesity and normal body weight were established.Conclusion. Further large-scale studies, including biochemical and hormonal parameters, are needed to establish the influence of specific polymorphic loci of various genes contributing in obesity and metabolic processes.","PeriodicalId":21550,"journal":{"name":"Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics)","volume":" 45","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-05-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140991836","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":"Results of treatment of patients with newly diagnosed immune thrombocytopenia: is it justified to follow clinical recommendations?","authors":"I. S. Dolgopolov, A. M. Mnatsakanian, A. V. Ivanova, A. D. Volianskaya, E. A. Nakhodnova, M. Rykov, A. V. Zaitseva","doi":"10.21508/1027-4065-2024-69-2-72-77","DOIUrl":"https://doi.org/10.21508/1027-4065-2024-69-2-72-77","url":null,"abstract":"Immune thrombocytopenia (ITP) is an acquired immune-mediated disease characterized by isolated transient or persistent thrombocytopenia < 100·109/L. The incidence of immune thrombocytopenia is 4–6,4 per 105 children/year.Purpose. To analyze the results of treatment newly diagnosed immune thrombocytopenia according to the clinical guidelines (ID699) published on the website of the Ministry of Health of Russia.Material and methods. The analysis included 13 patients (F–46%, M–54%, median age — 9.5 (4–17) years) with immune thrombocytopenia admitted to the Tver Regional children hospital in 2023. A history of infection preceding the immune thrombocytopenia was in 69% of cases and measles vaccination in 8%. The median period from the onset of infection was 11 (5–15) days. Degree of bleeding was — 1 gr. — 4 (31%), 2 gr. — 3 (23%), 3 gr. — 6 (46%). Hematuria was observed in 3 (23%), menorrhagia in 1 (8%) case. The mean platelet count at the time of admission was 9,0 (1.0–86) · 109/l.Results. The incidence was 5.7 per 105 children/year. Dexamethasone 20 mg/m2, days 1–3, was used in 54% of cases; IVIG 1000 mg/kg, day 1 in 15%, prednisolone 2 mg/kg, day 21 in 8% and in 23% of cases dynamic follow-up was performed. In 2 cases (17%), discontinuation of steroid therapy and switching to IVIG was required due to a hemorrhagic syndrome deterioration or/and complication of steroid therapy. Partial and complete responses were achieved in 8 (62%) and 4 (31%) cases respectively. In 1 (8%) case, the response could not be evaluated. The summary efficacy of first-line therapy was 92%.Conclusion. The clinical guidelines ID699 was highly effective in achieving a primary response and preventing recurrence of immune thrombocytopenia in children.","PeriodicalId":21550,"journal":{"name":"Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics)","volume":" 22","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-05-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140991108","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":"Population prevalence of hypospadias according to monitoring of congenital malformations in the regions of the Russian Federation","authors":"N. Demikova, M. Podolnaya","doi":"10.21508/1027-4065-2024-69-2-50-55","DOIUrl":"https://doi.org/10.21508/1027-4065-2024-69-2-50-55","url":null,"abstract":"Hypospadias is a common congenital malformation, and its incidence varies widely between countries and geographic regions, making it necessary to obtain proprietary frequency estimates. In addition, a number of studies have noted a trend toward increased hypospadias.Purpose. The study aims at assessing the incidence and dynamics of hypospadias in the regions of the Russian Federation for the period 2011–2021.Material and methods. The study included 22 regions of the Russian Federation. The study sample included cases of hypospadias among live births, stillbirths, and fetuses. The number of cases of hypospadias is 7071, the total number of births during the study period is 4,677,892. IBM SPSS Statistics 21 was used to process the research materials. Poisson regression was used to assess the incidence and risk factors for hypospadias.Results. The overall incidence of hypospadias in all regions was 15.12 cases per 10,000 births. The incidence of all cases of hypospadias by region ranged from 2.12 to 34.76 per 10,000 births. There were no significant trends in changes in the frequency of the defect during the study period. Among all cases of hypospadias, the majority is represented by hypospadias of the glans penis (Q54.0) — 5666 cases or 80.13%. In 99.41% of cases, hypospadias occurred in live-born children. The incidence of hypospadias in children increased with maternal age (over 35 years).Discussion. For the first time, estimates of the incidence of hypospadias have been obtained based on monitoring data for congenital malformations. Since hypospadias is a common defect, it can be assumed that in regions of the Russian Federation with low frequencies of hypospadias, the defect is most likely underreported. The incidence of the defect has remained stable over time, although many studies have found an increase in the incidence of hypospadias. Continued research is needed to clarify the epidemiological characteristics of hypospadias.","PeriodicalId":21550,"journal":{"name":"Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics)","volume":" 6","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-05-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140993927","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":"Microcirculation indicators in children with bronchial asthma","authors":"E. V. Aseeva, N. Geppe, V. V. Sidorov, I. V. Grebeneva, A. Gatsaeva, L. A. Fedeneva","doi":"10.21508/1027-4065-2024-69-2-78-85","DOIUrl":"https://doi.org/10.21508/1027-4065-2024-69-2-78-85","url":null,"abstract":"In pediatric practice, non-invasive methods are relevant that allow one to study the state of blood microflow. One such method is laser Doppler flowmetry.Purpose. To evaluate the state of blood microcirculation in children with bronchial asthma by laser Doppler flowmetry during periods of exacerbation and remission of the disease.Material and methods. 40 healthy children aged 9–17 years (13.7 ± 1.8) were examined, which made up the control group. The main group of the examined were children with moderate and severe bronchial asthma (n=60) during the period of exacerbation (n=29) and remission (n=31) of similar age. To diagnose the general condition, the microcirculation of blood used a system of portable blood microcirculation LAZMA PF. From the LAZMA PF analyzers, a distributed system consisting of four devices was organized: two analyzers for simultaneous research on the 3rd finger of the hands and on the 1st toes. The record of indicators from 4 analyzers was carried out simultaneously in the position of the subject sitting for 10 minutes.Results. When studying the indicator of the microcirculatory-tissue system in children with bronchial asthma of moderate and severe severity who are in remission, we did not reveal significant differences from the indicators in healthy children. When assessing active regulation mechanisms affecting the state of microcirculation, a reliable decrease in the amplitudes of vibrations of endothelial regulation in patients with bronchial asthma compared to healthy children (p<0.05) was revealed. When comparing passive oscillations of blood flow in patients with bronchial asthma, a significant decrease in the amplitudes of oscillations in the cardiac range was revealed in comparison with the control group (p<0.05). Scope of results: medicine, pediatrics, therapy, pulmonology, allergology.Conclusion. The laser Doppler flowmetry can be used as an additional criterion for the diagnosis and control of the therapy of bronchial asthma in children.","PeriodicalId":21550,"journal":{"name":"Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics)","volume":" 36","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-05-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140991259","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":"Apert syndrome: modern aspects of diagnosis and treatment","authors":"S. S. Kantutis, E. A. Sarkisyan, P. Shumilov, L. D. Vorona, O. V. Pravoslavnaya, L. A. Levchenko, E. I. Shabelnikova, M. A. Sokolova, A. I. Krapivkin","doi":"10.21508/1027-4065-2024-69-2-107-116","DOIUrl":"https://doi.org/10.21508/1027-4065-2024-69-2-107-116","url":null,"abstract":"The purpose of this review is to raise awareness of medical professionals about the features of the clinical picture, the possibilities of diagnosis (including prenatal) and therapy of patients with Apert syndrome to further improve the prognosis and improve the quality of life. Acrocephalosyndactyly is a group of rare congenital syndromes characterized by the presence of acrocephaly, craniofacial anomalies, syndactyly of the hands and feet. According to the literature, the most common form of аcrocephalosyndactyly is Apert syndrome (acrocephalosyndactyly type I, Apert syndrome, ICD 10 Q 87.0, OMIM 101200). This is a genetic disease inherited by an autosomal dominant type. CA is caused by a mutation of the fibroblast growth factor receptor type 2 gene (FGFR2) located on the long arm of chromosome 10, which leads to increased bone metabolism and impaired bone synthesis. The frequency of Apert syndrome is about 15 cases per 1,000,000 live births. Wheaton first reported this pathology in 1894, and in 1906 the French pediatrician Eugene Apert published a series of nine clinical cases with a characteristic triad of symptoms. Apert syndrome is characterized by craniosynostosis, bilateral symmetrical limb syndactyly and dysmorphic facial features. Hypoplasia of the upper jaw and bicoronal synostosis are two noticeable craniofacial defects that lead to a flat, deepened appearance of the forehead and the middle part of the face. Hypertelorism and excessive orbitality, low-set ears, flat nose and cleft palate are often found. Cardiovascular, neurological and genitourinary abnormalities may be present. Diagnosis is based on clinical criteria and molecular genetic testing. There is a possibility of prenatal detection of Apert syndrome.","PeriodicalId":21550,"journal":{"name":"Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics)","volume":" 12","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-05-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140992263","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 erythrocyte and reticulocyte indices in a newborn with severe hemolytic disease","authors":"M. V. Artiushevskaya, N. N. Klimkovich, A. P. Sukhareva, A. M. Kozarezova, Ya. V. Pechinskaya, A. A. Rusak","doi":"10.21508/1027-4065-2024-69-2-101-106","DOIUrl":"https://doi.org/10.21508/1027-4065-2024-69-2-101-106","url":null,"abstract":"Currently, significant progress has been made in the prevention, diagnosis and treatment of hemolytic disease of the fetus and newborn. However, the development of anemia in a newborn child due to this disease remains an urgent problem for both neonatologists and pediatricians. In such children, a comprehensive assessment of the hemogram is of particular importance. The study of erythrocyte and reticulocyte parameters of a general blood test is necessary to determine prognostic criteria for the restoration of hematopoiesis and determine the status of iron deficiency. A clinical observation of a newborn child with the development of anemia due to hemolytic disease of the fetus and newborn is presented (clinical case). A dynamic analysis of reticulocyte parameters (absolute and relative numbers) and reticulocyte fractions was carried out. An increase in reticulocytes (absolute and relative numbers) was established, mainly due to the fraction of immature reticulocytes during the development of anemia in a newborn child. Such indicators as the hemoglobin content in reticulocytes, the average hemoglobin content in an erythrocyte, the average hemoglobin concentration in an erythrocyte in a general blood test in an infant during the neonatal period remained within the reference values. The data obtained made it possible to determine a personalized approach to the treatment of anemia and avoid blood transfusion in this child.","PeriodicalId":21550,"journal":{"name":"Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics)","volume":" 12","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-05-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140993648","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":"Fundamentals of rational antibiotic therapy in outpatient pediatrics","authors":"A. V. Guzikova, V. S. Meshkov, A. K. Islamgulov, S. A. Viktorova, A. S. Savieva, A. Z. Geibullaeva, V. Y. Agabekov, L. A. Valeeva, A. V. Bazylova, D. I. Sagitova, M. U. Nasipov, A. A. Neganova, L. D. Saigafarova","doi":"10.21508/1027-4065-2024-69-2-42-49","DOIUrl":"https://doi.org/10.21508/1027-4065-2024-69-2-42-49","url":null,"abstract":"Antibiotics are one of the most prescribed groups of drugs in outpatient pediatric practice. To date, there are still disagreements about the need for the use of antibiotics and the optimal dosage regimen for many infections that pediatricians face daily. The authors conducted a search for publications in the PubMed, Google Scholar and eLibrary by the following keywords: «pediatric,» «antibiotics,» «antibiotic resistance,» «outpatient pediatrics» in English, and «педиатрия,» «антибиотики,» «антибиотикорезистентность,» «амбулаторная педиатрия» in Russian. Recent studies show that uncomplicated childhood infectious diseases in vaccinated children can be treated with shorter courses of antibiotics. The rational use of antibiotics in outpatient pediatric practice is of great importance for reducing resistance to them. Since the first step in choosing treatment tactics is to establish the etiology of the disease, future research should focus more on identifying potential biomarkers and diagnostic tests that allow rapid diagnosis of the etiology of an infectious disease, as well as optimizing the dosage and duration of antibiotic therapy courses.","PeriodicalId":21550,"journal":{"name":"Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics)","volume":" 3","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-05-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140998549","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":"Epidemiology of rotavirus infection: the evolution of the pathogen and the success of vaccination","authors":"S. G. Gorbunov, A. A. Cheburkin","doi":"10.21508/1027-4065-2024-69-2-34-41","DOIUrl":"https://doi.org/10.21508/1027-4065-2024-69-2-34-41","url":null,"abstract":"The review presents data on the spread of various rotavirus genotypes and its variability in the world and in Russia, which occur both due to natural causes and under the influence of vaccination against rotavirus infection, as well as on the transformation of clinical and epidemiological features of the course of this disease in children as a result of the pathogen mutations.","PeriodicalId":21550,"journal":{"name":"Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics)","volume":" 18","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-05-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140998213","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":"Formation of cognitive processes in children with autism. Part II. Genetic mechanisms","authors":"O. Glotov, A. Chernov, P. A. Suchko, Y. Eismont, L. Mayorova","doi":"10.21508/1027-4065-2024-69-2-26-33","DOIUrl":"https://doi.org/10.21508/1027-4065-2024-69-2-26-33","url":null,"abstract":"Autism and autism spectrum disorders are neuropsychiatric diseases that begin to appear in children under 3 years. Over the past decade, the number of children with autism spectrum disorders has increased more than in 10-fold and continues to grow, accounting for 1–2% of the world’s population. Currently, the diagnosis of autism spectrum disorders is based only on clinical and behavioral tests, and there are no biological and genetic markers that could contribute to the early detection of this disorder. The review, based on the analysis of modern literature data about symptoms, genetic etiological factors that associated with autism, examines the possibility of using genes as diagnostic biomarkers in children with autism spectrum disorders. Analysis of literature data shows that disorders of attention, speed of information processing, working memory, learning are based on genetic (mutations, SNPs) and epigenetic (methylation) changes in the expression of many genes: BDNF, CAPS2, CNTNAP2, GABRB3, FMR1, FOXP1, GTF2I, HSD11B2, MECP2, NF2, NGF, NR3C1, OXTR, PAK2, RELN, SLC6A4, UBE3A, etc. Some of these genes (RELN) are associated with ASD severity.","PeriodicalId":21550,"journal":{"name":"Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics)","volume":" 6","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-05-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140999050","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":"Clinico-morphological phenotype and genotype of multicystic kidney dysplasia in children","authors":"E. Andreeva, N. Savenkova","doi":"10.21508/1027-4065-2024-69-2-19-25","DOIUrl":"https://doi.org/10.21508/1027-4065-2024-69-2-19-25","url":null,"abstract":"At this review of literature presents data on the clinico-morphological phenotype and genotype of multicystic kidney dysplasia: unilateral (ORPHA:97363) and bilateral (ORPHA:97364). The published results of molecular genetic studies, which identified mutations of the genes PAX2, HNF1b, LHX1, CDC5L, USF2, UPK3A, NPHP3, TP63, SALL1, SOX9, CHD7, TFAP2A, responsible for the development of non-functioning unilateral or bilateral, isolate or syndromal multicystic kidney dysplasia, have been discussed. According to the literature, the features of the evolution of multicystic kidney, compensatory hypertrophy and the function of the contralateral kidney are presented.","PeriodicalId":21550,"journal":{"name":"Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics)","volume":" 4","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-05-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141000116","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}