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

{"title":"Diagnostics of combined hereditary cardiovascular pathology in a teenager","authors":"D. Sadykova, O. Groznova, G. V. Pirogova, E. Slastnikova, L. F. Galimova, N. N. Firsova, A. A. Kucheriavaia, C. Khaliullina","doi":"10.21508/1027-4065-2023-68-5-95-101","DOIUrl":"https://doi.org/10.21508/1027-4065-2023-68-5-95-101","url":null,"abstract":"Dilated cardiomyopathy is one of the leading causes of heart failure in children with a variety of clinical characteristics. A 12-year-old patient with dilated cardiomyopathy and heterozygous familial hypercholesterolemia, who underwent surgical treatment for implantation of the Abbott HeartMate III Left Ventricular Assist Device as a bridge to donor heart transplantation, is presented. Establishing an accurate diagnosis in the presented observation became possible thanks to the use of a modern molecular genetic method — whole genome DNA testing by next generation sequencing (NGS). The description of this case will help expand the range of possible clinical manifestations of dilated cardiomyopathy and reminds us of the importance of dynamic monitoring of children with cardiac arrhythmias.","PeriodicalId":21550,"journal":{"name":"Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics)","volume":"40 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-11-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139268392","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":"Difficulties in diagnosing moyamoya disease","authors":"Y. Melnikova, D. Sadykova, T. P. Makarova, D. M. Yasav, A. F. Khamidullin, M. F. Bikmullin","doi":"10.21508/1027-4065-2023-68-5-102-109","DOIUrl":"https://doi.org/10.21508/1027-4065-2023-68-5-102-109","url":null,"abstract":"Moyamoya disease is a progressive cerebrovascular disease characterized by bilateral stenosis of the supraclinoid (proximal) part of the internal carotid arteries and the initial segments of the anterior and middle cerebral arteries, with subsequent involvement of the vertebrobasilar basin and accompanied by the development of a basal network of anastomoses. The disease most often manifests itself at the age of 5 to 30–40 years, which makes this pathology an actual and significant cause of functional disorders in children and young people. Diagnosis of moyamoya disease can be difficult because of the polymorphism of its clinical manifestations. This disease must be taken into account in the differential diagnosis of symptoms of cerebral ischemia, since early detection and therapeutic intervention can improve the prognosis by preventing irreversible brain damage. The article presents its own clinical observation of a 6-year-old child with moyamoya disease with a predominant lesion of the right internal carotid artery basin.","PeriodicalId":21550,"journal":{"name":"Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics)","volume":"20 4","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-11-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139268739","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":"Dystrophic bullous epidermolysis in a newborn","authors":"A. Babintseva, D. Sadykova, К. О. Zvegintseva","doi":"10.21508/1027-4065-2023-68-5-70-72","DOIUrl":"https://doi.org/10.21508/1027-4065-2023-68-5-70-72","url":null,"abstract":"Congenital bullous epidermolysis is a severe hereditary disease, the main manifestation of which is bubbles that occur after minor mechanical action on the skin and mucous membranes due to congenital violation of the coding of dermo-epidermal proteins. The difficulty in making a diagnosis of congenital bullous epidermolysis is associated with the rarity of pathology and a small number of scientific publications.","PeriodicalId":21550,"journal":{"name":"Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics)","volume":"C-33 8","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-11-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139268531","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 case of Kaposi’s varicelliform eruption in a 4-month-old child","authors":"G. R. Fatkullina, V. Anokhin, F. M. Safina, P. N. Emel’yanova, T. K. Bakhtiguzina, A. Sabitova","doi":"10.21508/1027-4065-2023-68-5-78-84","DOIUrl":"https://doi.org/10.21508/1027-4065-2023-68-5-78-84","url":null,"abstract":"It is well known that herpesviruses are pantropic, hence herpetic infections are characterized by a diverse clinical pattern. Often one of the syndromes of various «herpetic nosologic forms» is the exanthema syndrome. Traditionally, this is a vesicular rash accompanying the infection caused by herpes simplex virus, which occupies a fairly limited area, but the rashes can be completely different in nature, quantity, and localization. The article discusses a relatively rare variant of herpetic infection, called: Kaposi’s varicelliform eruption (eczema herpeticum), or Kaposi–Juliusberg varioliform pustulosis, characterized by the severity of clinical manifestations, often an unfavorable outcome, diagnostic and therapeutic difficulties. Photo documents of the dynamics of the skin process and laboratory parameters against the background of antiviral therapy are presented.","PeriodicalId":21550,"journal":{"name":"Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics)","volume":"18 5","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-11-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139269176","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 rare case of cutaneous mastocytosis in pediatric practice","authors":"G. A. Kulakova, N. A. Solovieva, S. Y. Volgina, E. A. Kurmaeva, O. V. Kalinina, I. I. Kaiumova, L. A. Zarva","doi":"10.21508/1027-4065-2023-68-5-119-125","DOIUrl":"https://doi.org/10.21508/1027-4065-2023-68-5-119-125","url":null,"abstract":"Mastocytosis belongs to a group of rare diseases in which there is a pathological accumulation of mast cells in tissues. In childhood, it is more often limited to skin lesions. A clinical case of a bullous form of severe cutaneous mastocytosis, with the onset of the disease at 3.5 months, is presented. Cutaneous manifestations with a positive Darier–Unna symptom and a high level of tryptase in the blood, the exclusion of systemic lesions allowed diagnosing cutaneous mastocytosis and choosing treatment tactics.","PeriodicalId":21550,"journal":{"name":"Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics)","volume":"30 6","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-11-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139268529","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":"Acute kidney injury as the onset of cystic fibrosis in a child of 1 year of age","authors":"A. I. Safina, T. V. Mikhailova, I. I. Zakirov, I. M. Suleimanova","doi":"10.21508/1027-4065-2023-68-5-85-88","DOIUrl":"https://doi.org/10.21508/1027-4065-2023-68-5-85-88","url":null,"abstract":"Early diagnosis of the cystic fibrosis remains an urgent problem, despite ongoing nationwide neonatal screening. The uniqueness of the presented clinical case lies in the atypical onset of cystic fibrosis in a young child with clinical manifestations of acute kidney injury. The suddenly developed severe general condition in a child was due to manifestations of acute renal injury of the third stage (severe lethargy, anuria for 14 hours, an increase in blood creatinine to 121 µmol/L, a decrease in glomerular filtration rate to 17.4 mL/min), decompensated metabolic alkalosis with hypokalemia, hyponatremia, hypocalcemia (pH 7.6, K+ 2.6 mmol/L, Na+ 118 mmol/L, Ca2+ 0.96 mmol/L, HCO3 – 35.5 mmol/L). The observed disturbances in acid-base status and electrolyte metabolism were manifestations of the pseudo-Bartter syndrome. For the prevention of acute kidney injury in a patient with cystic fibrosis, timely electrolyte and fluid management is important to prevent the development of pseudo-Bartter’s syndrome, exsicosis and hypovolemia.","PeriodicalId":21550,"journal":{"name":"Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics)","volume":"95 3 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-11-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139267251","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":"Lower extremity chronic venous diseases in children in pediatric practice","authors":"I. Nurmeev, L. M. Miroliubov, V. I. Morozov, M. A. Zykova, T. I. Nurmeev","doi":"10.21508/1027-4065-2023-68-5-135-137","DOIUrl":"https://doi.org/10.21508/1027-4065-2023-68-5-135-137","url":null,"abstract":"The article provides a view on the problem of chronic venous disease syndrome in children, summarizing the pediatric and vascular surgical approaches. Varicose veins in children are a combination of problems of varicose veins in the legs, a cosmetic defect, and the task of management by pediatric specialists in outpatient settings. The article reflects many years of experience of the authors in the treatment of patients with venous diseases. The purpose of the article is to present the features of managing patients with chronic venous diseases in primary care medical institutions. The modern level of diagnosis and treatment of the disease is reflected. Peculiarities in children related to the development of complications, the formation of chronic venous insufficiency and the need for surgical interventions are shown. Conclusions: the role of an outpatient pediatrician is important in the identification and verification of children with chronic venous diseases; further examination and management of the patient is carried out in strong relationship between the pediatrician and the pediatric (pediatric vascular) surgeon. To achieve satisfactory results, timely and selective surgical and laser interventions and an ongoing individual conservative treatment program are required.","PeriodicalId":21550,"journal":{"name":"Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics)","volume":"22 5","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-11-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139268752","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":"Perinatal form of Niemann–Pick disease type C on the background of substrate-reducing therapy","authors":"R. Rakhmaeva, G. Sageeva, N. A. Artykova, N. R. Mingacheva, N. M. Danilaeva, A. Kamalova","doi":"10.21508/1027-4065-2023-68-5-73-77","DOIUrl":"https://doi.org/10.21508/1027-4065-2023-68-5-73-77","url":null,"abstract":"The article presents a clinical case of a child with a perinatal form of Niemann–Pick disease type C. The clinical manifestations were cholestasis syndrome, cytolysis, hepatosplenomegaly, muscle hypotension. Differential diagnostics was performed with toxic, cytomegalovirus, viral hepatitis, alpha-1-antitrypsin deficiency, autoimmune liver diseases, aminoacidopathies, Alajille syndrome. After Cholestasis panel genetic testing, a mutation in the NPC1 gene was detected. Biochemical diagnostics showed an increase in the concentration of lysosphingomyelin-509 and increased activity of chitotriosidase in dry blood spots. According to the Sanger sequencing of the NPC1 gene, a nucleotide substitution of chr18:21131617G>A was detected in a child in a homozygous state. According to vital indications (“off-label use”), the patient was prescribed substrate-reducing therapy with Miglustat. Relief of cholestasis syndrome, minimal cytolysis syndrome after administering the drug for 1 month may indicate good tolerability and effectiveness of therapy.","PeriodicalId":21550,"journal":{"name":"Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics)","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-11-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139270290","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":"Hemophagocytic syndrome and coronary artery aneurysms in a child with Kawasaki disease","authors":"T. P. Makarova, D. Sadykova, N. N. Firsova, D. Sabirova, А. А. Kucheriavaia, Y. Melnikova, A. V. Sergina, P. V. Sergina, A. I. Gimadieva","doi":"10.21508/1027-4065-2023-68-5-110-118","DOIUrl":"https://doi.org/10.21508/1027-4065-2023-68-5-110-118","url":null,"abstract":"Mucocutaneous lymph node syndrome (Kawasaki syndrome/disease) is an acute systemic disease characterized by a predominant lesion of medium and small arteries (arteriitis), the development of destructive proliferative vasculitis. The most serious manifestations of Kawasaki disease are coronaritis and the formation of aneurysms of the coronary arteries, which can be a potential cause of acute coronary syndrome in children. The article presents our own clinical observation of a 7-month-old child with a complete form of Kawasaki disease with the formation of aneurysms of the coronary arteries, complicated by acute coronary and hemophagocytic syndromes. Kawasaki syndrome should be considered in all children with persistent fever ≥ 5 days, and the combination of persistent fever with 2–3 typical features of Kawasaki syndrome should be an absolute indication for echocardiography with mandatory visualization of the coronary arteries.","PeriodicalId":21550,"journal":{"name":"Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics)","volume":"57 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-11-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139268728","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":"Colonization resistance of buccal epitheliocytes as an indicator of mucosal immune homeostatic resources in children with recurrent respiratory diseases","authors":"O. I. Pikuza, R. Faizullina, A. M. Zakirova, E. A. Samorodnova, E. V. Volianiuk, Е. L. Rashitova, E. V. Yazdani","doi":"10.21508/1027-4065-2023-68-5-45-52","DOIUrl":"https://doi.org/10.21508/1027-4065-2023-68-5-45-52","url":null,"abstract":"Of particular interest is the study of colonization resistance of the oral cavity as a physiological phenomenon that reflects the ability of the microbiota and macroorganism in cooperation to protect the ecosystem of the oral cavity from pathogens. Purpose is to evaluate the significance of indicators of colonization resistance of buccal epithelial cells as a marker of homeostatic resources of mucosal immunity in recurrent respiratory diseases in children. Material and methods. 232 (5–16 years old) children were examined, including 56 children with acute bronchitis, 73 with recurrent bronchitis, 103 with community-acquired pneumonia. The control group included 31 apparently healthy children of the same age and sex. Used: conventional paraclinical and laboratory-instrumental methods, etiological verification of viruses and bacteria, colonization index and artificial colonization of buccal epitheliocytes, antiadhesive activity of saliva. Results. 64.38% of children with recurrent bronchitis and 72.82% of children with community-acquired pneumonia were born from an aggravated pregnancy and already at 3 months had signs of acute respiratory diseases. Viral antigens were detected in 63.36% of children. An inverse relationship was found between the indicators of artificial colonization and adhesion of Candida albicans on buccal epithelial cells — the lower the values of artificial colonization, the more often pneumonia and recurrent bronchitis were recorded. A significant decrease in saliva antiadhesion was found in recurrent bronchitis and community-acquired pneumonia, significantly different not only from the control, but also from patients with acute bronchitis. This contingent of patients finds itself in extremely unfavorable conditions due to the disruption of the adaptive reserves of the mucosal defense of the body. Conclusion. A decrease in the index of colonization, antiadhesive activity of saliva against the background of increasing parameters of artificial colonization in children with recurrent bronchitis and community-acquired pneumonia indicate deep dysbiosis. The high significance of screening approaches in assessing the homeostatic resources of mucosal protection of the oral cavity in children with bronchopulmonary pathology has been proven.","PeriodicalId":21550,"journal":{"name":"Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics)","volume":"51 4","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-11-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139275692","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}