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

{"title":"Immunodeficiency masks: a complex diagnostic case of Nijmegen breakage syndrome","authors":"Y. Mizernitskiy, I. E. Zorina, E. S. Ryngachenko, T. N. Kuzmina, E. Deripapa, Y. Rodina, A. Shcherbina","doi":"10.21508/1027-4065-2023-68-6-94-98","DOIUrl":"https://doi.org/10.21508/1027-4065-2023-68-6-94-98","url":null,"abstract":"Purpose. The purpose of the study is to show the importance of a multidisciplinary approach in the early verification of the primary immunodeficiency — Nijmegen breakage syndrome. A girl was admitted with complaints of daily productive cough, persistent obstruction of nasal breathing, mucopurulent discharge, recurrent respiratory tract infections for three years. From the age of 2, she suffered from protracted recurrent respiratory infections, repeatedly received inpatient treatment with systemic antibiotic therapy with insufficient effect in the form of maintaining complaints. When examining according to CT scan of the chest — single atelectasis, ground glass areas. Immunodeficiency states were excluded at the place of residence. On examination: phenotypic features of the type of «bird-like» face — sloping forehead, middle part of the face protruding forward, beak-shaped nose, large ears. Physical development is low: weight and height indicators are less than the 3rd percentile. From the nasal passages mucopurulent discharge, productive cough. Auscultatory — moist rales in all lung fields. For other organs and systems — without features. On examination: deep T-cell lymphopenia, according to CT scan signs of pansinusitis, bilateral otitis media; post-inflammatory pneumofibrotic changes. According to the results ofspirometry — mixed lesions. According to the results of immunological and genetic additional examination, the immunodeficiency state — Nijmegen breakage syndrome was verified, constant anti-inflammatory, antibacterial and antifungal, immunoglobulin replacement therapy was initiated.Conclusion. The presented clinical observation reflects the features of the course of the Nijmegen breakage syndrome. This example demonstrates the diagnostic complexity in verifying the diagnosis and shows the great importance of a multidisciplinary approach for the timely initiation of appropriate therapy, which, in turn, affects the severity of the disease and quality of life.","PeriodicalId":21550,"journal":{"name":"Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics)","volume":"15 21","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-01-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139531207","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":"Congenital pseudarthrosis of the leg bones and autistic spectrum disorder in a patient with neurofibromatosis type 1","authors":"R. Gamirova, K. R. Zabirova, A. R. Safina, E. A. Gorobets, S. Y. Volgina","doi":"10.21508/1027-4065-2023-68-6-105-111","DOIUrl":"https://doi.org/10.21508/1027-4065-2023-68-6-105-111","url":null,"abstract":"The article presents an analysis of the pathogenesis of neurofibromatosis type 1, the mechanism of damage to the central nervous system. It analyzes the general clinical symptoms of neurofibromatosis type 1, its diagnostic criteria, describes the specifics of cognitive development in this disease with an emphasis on behavioral and autism spectrum disorders. The authors describe a clinical case of neurofibromatosis type 1 (a boy, 6 years and 10 months), in which, along with coffee-colored skin spots, subcutaneous fibromas, one of the first symptoms of the disease was also a congenital false joint of the bones of the left leg. Absence of speech development and autism spectrum disorders are key problems in the cognitive status of the child.","PeriodicalId":21550,"journal":{"name":"Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics)","volume":"7 8","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-01-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139531327","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":"Margarita Vladimirovna Zhilinskaya — pediatrician and scientist (on the 100th anniversary of her birth)","authors":"B. A. Kobrinskii","doi":"10.21508/1027-4065-2023-68-6-144-147","DOIUrl":"https://doi.org/10.21508/1027-4065-2023-68-6-144-147","url":null,"abstract":"The article is devoted to the life and scientific career of Margarita Vladimirovna Zhilinskaya, Doctor of Medical Sciences, Professor, head of the first department of computer diagnostics in pediatrics in Russia and the USSR created in 1970 on her initiative. For 5 years before that, she was the Chief Freelance Pediatrician of the Ministry of Health of the RSFSR. The new area of activity was a continuation of research on the application of mathematical methods in clinical work. The department actively developed and implemented methods for planning research, assessing the informativeness of signs, multiple connections of signs in the analysis of the pathogenesis of diseases, for which the method of correlation pleiades was developed. The main paradigm in as early as the beginning of the department’s activity was a comprehensive quantitative assessment of the conditions of the child’s organism, mathematical analysis of risk factors and the formation of risk groups for diseases in children on this basis. At the same time, computer programs were created for differential diagnosis and evaluation of treatment effectiveness. Employees of the department conducted comprehensive research in the field of developing computer systems for rapid and in-depth analysis of infant mortality. For the first time, a mathematical apparatus was implemented to quantify the contribution of qualitative characteristics to the outcome of the disease. Research conducted under the scientific guidance of M.V. Zhilinskaya in 1970–1979 laid the ground for the subsequent creation of an automated system for clinical examination of pediatric population and numerous systems for disease diagnosing.","PeriodicalId":21550,"journal":{"name":"Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics)","volume":"17 15","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-01-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139531021","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":"ANCA-associated vasculitis with recurrent thrombosis in a teenager after the new coronavirus infection","authors":"L. A. Balykova, O. Soldatov, T. I. Razdolkina, V. S. Vereshchagina, M. V. Shirmankina, A. Krasnopolskaya, E. F. Moskovskaya","doi":"10.21508/1027-4065-2023-68-6-112-120","DOIUrl":"https://doi.org/10.21508/1027-4065-2023-68-6-112-120","url":null,"abstract":"ANCA-associated vasculitis is a rare disease in children characterized by multiple organ involvement. In recent years, there has been found a connection between systemic vasculitis, including ANCA-associated, and the new coronavirus infection. There are certain difficulties in the differential diagnosis of these conditions. In addition, patients with ANCA-associated vasculitis have a high incidence of venous thromboembolic complications, which creates additional difficulties in the diagnosis and treatment of this disease, especially in children. The article presents the current data review and a clinical case of ANCA-associated systemic vasculitis with damage to the kidneys, lungs, joints (microscopic polyangiitis) in a 17-year-old teenager after the coronavirus infection.","PeriodicalId":21550,"journal":{"name":"Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics)","volume":"16 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-01-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139530740","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":"Tuberous sclerosis associated with congenital lymphedema","authors":"R. Gamirova, E. N. Garifullina, A. K. Feiskhanov, E. A. Gorobets, D. Gaynetdinova, S. Y. Volgina, M. Dorofeeva","doi":"10.21508/1027-4065-2023-68-6-99-104","DOIUrl":"https://doi.org/10.21508/1027-4065-2023-68-6-99-104","url":null,"abstract":"Tuberous sclerosis complex is an autosomal dominant hereditary disease characterized by the formation of multiple hamartomas in various organs and tissues. Although tuberous sclerosis is considered to be a rare condition, it is among the most common genetic diseases. According to the literature, 16 cases of tuberous sclerosis associated with congenital lymphedema have been revealed from 1984 in scientific publications. Only four of these cases were described in male patients. Such combinations have not been yet described in the Russian studies. The article discusses different aspects of a rare clinical case presented by the combination of tuberous sclerosis with congenital lymphedema in a male patient aged 1 year and 6 months.","PeriodicalId":21550,"journal":{"name":"Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics)","volume":"31 6","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-01-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139531748","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":"Clinical Case of Cor Triatriatum","authors":"S. V. Turieva, T. B. Kasokhov, I. G. Gussoeva, A. M. Bigaeva, L. S. Tuaeva","doi":"10.21508/1027-4065-2023-68-6-121-125","DOIUrl":"https://doi.org/10.21508/1027-4065-2023-68-6-121-125","url":null,"abstract":"Cor Triatriatum is utterly rare congenital heart disease, which has characteristic magnetic resonance and echocardiographic symptoms. Complexity of the diagnostics is an asymptomatic clinical flow, so timely diagnostics and therapy will help to defer possible complications and improve the quality of the life of these patients.","PeriodicalId":21550,"journal":{"name":"Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics)","volume":"21 2","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-01-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139531359","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":"Autoimmune polyglandular syndrome of type 1 (hypoparathyroidism, adrenal insufficiency): difficulties in determining the differential and true diagnosis","authors":"E. S. Keshishian, E. Tozliyan, A. V. Molokoedova","doi":"10.21508/1027-4065-2023-68-6-137-143","DOIUrl":"https://doi.org/10.21508/1027-4065-2023-68-6-137-143","url":null,"abstract":"The paper gives the data available in the literature, diagnostic issues and current treatments a rare genetic syndrome in children — autoimmune polyglandular syndrome type 1. Emphasis is laid on major difficulties in the differential and true diagnosis of this disease. The author describes a clinical case. The article presents the importance of the interdisciplinary approach.","PeriodicalId":21550,"journal":{"name":"Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics)","volume":"30 15","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-01-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139530853","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":"Dynamics of ultrasound indicators of retrobulbar blood flow at different durations of type 1 diabetes mellitus in childhood and adolescence","authors":"S. V. Fomina, Y. Samoylova, V. Zavadovskaya, M. Koshmeleva, D. A. Kachanov, E. I. Trifonova, V. Yun, D. A. Kudlay, M. Zorkaltsev","doi":"10.21508/1027-4065-2023-68-6-67-74","DOIUrl":"https://doi.org/10.21508/1027-4065-2023-68-6-67-74","url":null,"abstract":"The results of a study of the dynamics of ultrasound parameters of blood flow in the eye and orbit in patients with type 1 diabetes mellitus in childhood and adolescence are presented. The study included data from 70 patients aged 5 to 18 years, with disease duration up to 5 years, from 5 to 10 years, and more than 10 years. Ultrasound indicators of linear blood flow velocity and peripheral resistance index were analyzed in the ophthalmic arteries, central arteries and veins of the retina, posterior short ciliary arteries, and superior ophthalmic veins at different periods of the duration of type 1 diabetes mellitus. The study revealed a decrease in blood flow velocity in the central retinal arteries and in the posterior short ciliary arteries with increasing duration of type 1 diabetes. The greatest decrease in blood flow velocity was recorded in the group with a duration of diabetes mellitus of more than 10 years. The data obtained can be used to assess and dynamically monitor early disorders of the blood supply to the eye and orbit in patients with type 1 diabetes mellitus in childhood and adolescence.","PeriodicalId":21550,"journal":{"name":"Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics)","volume":"16 8","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-01-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139532619","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":"Analysis of molecular genetic causes of congenital heart defects in children","authors":"R. R. Aliyev, I. S. Rasulov, P. A. Tarasova, L. M. Shipilova, O. I. Gumeniuk, Y. Chernenkov, O. Groznova","doi":"10.21508/1027-4065-2023-68-6-36-40","DOIUrl":"https://doi.org/10.21508/1027-4065-2023-68-6-36-40","url":null,"abstract":"In 10–20% of cases, congenital heart defects are caused by chromosomal abnormalities and gene mutation. Purpose. The purpose of the study: analysis of the genetic causes of congenital heart defects in children.Materials and Methods. The analysis of the medical history and the results of Genetics and Molecular Research (GMR) in 15 children with congenital heart defects were carried out.Results. Genome-wide DNA sequencing in patients with congenital heart defects revealed deletion 21q22.3 with duplication 4q31.1 ->qter and pathogenic variants in the genes PPP1CB, FN1, PHF6, CITIED2, ARID2, KMT2A, CIT, JAG1, MED13L, ELN, CHRNA3, KCNK9. Conclusion. In the vast majority of cases in the examined children, congenital heart defects were caused by pathogenic gene variants or chromosomal abnormalities. Congenital heart defects are an absolute indication for cytogenetic and molecular genetic examination.","PeriodicalId":21550,"journal":{"name":"Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics)","volume":"51 15","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-01-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139531662","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":"Risk factors for the formation of high morbidity of viral infections in children born as a result of assisted reproductive technologies","authors":"E. Mikheeva, N. Penkina, A. Yuditskiy","doi":"10.21508/1027-4065-2023-68-6-31-35","DOIUrl":"https://doi.org/10.21508/1027-4065-2023-68-6-31-35","url":null,"abstract":"The high incidence of respiratory viral infections in children of early, preschool, and primary school age is an urgent problem for practical health care.Purpose. The purpose of the study was to investigate factors contributing to the formation of a group of children who are frequently ill at an early age, born as a result of assisted reproductive technologies.Materials and Methods. The observation group consisted of 60 frequently ill children of the first three years of life born as a result of assisted reproductive technology application. The comparison group consisted of 22 children of similar age born using assisted reproductive technologies, not belonging to the group of frequently ill.Results. Among the endogenous risk factors affecting the increased frequency of acute respiratory infections in children born with the help of assisted reproductive technologies, the most significant are the following: intrauterine hypotrophy (p=0.026), early initiation of formula feeding (p=0.003), allergic diseases (p=0.049). Exogenous risk factors for the formation of a group of frequently ill children born with the use of assisted reproductive technologies are the effect of antibiotic therapy on the child’s immune system, the lack of vaccination against hemophilic infection.Conclusion. Frequently ill children require a comprehensive examination to identify background conditions, timely vaccination, and reasonable prescription of antibiotic therapy.","PeriodicalId":21550,"journal":{"name":"Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics)","volume":"59 35","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-01-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139532761","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}