Pub Date : 2024-07-12DOI: 10.21508/1027-4065-2024-69-3-86-93
A. V. Tereshchenko, I. G. Trifanenkova, A. Vydrina, S. V. Isaev
Purpose. To analyze the incidence, structure and methods of treatment of active retinopathy of prematurity (ROP) in a modern hightech perinatal center by specialists from the federal ophthalmology clinic.Material and methods. The results of ophthalmological monitoring of 979 premature babies were analyzed. The children’s body weight at birth were 460–2200 g. The gestational age of the children was 22–36 weeks. The children were nursed in the perinatal center “Kaluga Regional Clinical Hospital” from 2021 to 2023. Indications for the treatment were the identification of the 2nd and 3rd stages of active ROP with an unfavorable course, aggressive posterior ROP and ROP of the 1st zone.Results. For the analyzed period, active ROP was registered in 125 children (12.77%), the aggressive posterior ROP was registered in 4 (0.4%) cases. In the structure of morbidity, ROP with a favorable course accounted for 72% of cases (90 children). The proportion of the 2nd and 3rd stages of ROP with an unfavorable course, subject to treatment was 2.4% and 22.4%, respectively, and aggressive posterior ROP was 3.2%. Treatment of active ROP with an unfavorable course was required in 28% of cases. In 2021, among the used treatment methods, the leading place belonged to laser coagulation of the retina — 72.2%. The technique of intravitreal injections of an angiogenesis inhibitor was used in 2022 in 46.2% of cases, and in 2023 it reached 100%. By 2023, the effectiveness of the treatment with achieving regression of ROP was 100% of cases.Conclusion. Modern high-tech capabilities for providing care to premature infants in Perinatal Centers, combined with the use of advanced technologies from specialized ophthalmological centers, allow for timely high-tech treatment of active ROP, which ensures that the incidence of severe, disabling forms of the disease is minimized.
{"title":"Interaction of high-tech perinatal and ophthalmological centers as the basis for favorable outcomes of retinopathy of prematurity","authors":"A. V. Tereshchenko, I. G. Trifanenkova, A. Vydrina, S. V. Isaev","doi":"10.21508/1027-4065-2024-69-3-86-93","DOIUrl":"https://doi.org/10.21508/1027-4065-2024-69-3-86-93","url":null,"abstract":"Purpose. To analyze the incidence, structure and methods of treatment of active retinopathy of prematurity (ROP) in a modern hightech perinatal center by specialists from the federal ophthalmology clinic.Material and methods. The results of ophthalmological monitoring of 979 premature babies were analyzed. The children’s body weight at birth were 460–2200 g. The gestational age of the children was 22–36 weeks. The children were nursed in the perinatal center “Kaluga Regional Clinical Hospital” from 2021 to 2023. Indications for the treatment were the identification of the 2nd and 3rd stages of active ROP with an unfavorable course, aggressive posterior ROP and ROP of the 1st zone.Results. For the analyzed period, active ROP was registered in 125 children (12.77%), the aggressive posterior ROP was registered in 4 (0.4%) cases. In the structure of morbidity, ROP with a favorable course accounted for 72% of cases (90 children). The proportion of the 2nd and 3rd stages of ROP with an unfavorable course, subject to treatment was 2.4% and 22.4%, respectively, and aggressive posterior ROP was 3.2%. Treatment of active ROP with an unfavorable course was required in 28% of cases. In 2021, among the used treatment methods, the leading place belonged to laser coagulation of the retina — 72.2%. The technique of intravitreal injections of an angiogenesis inhibitor was used in 2022 in 46.2% of cases, and in 2023 it reached 100%. By 2023, the effectiveness of the treatment with achieving regression of ROP was 100% of cases.Conclusion. Modern high-tech capabilities for providing care to premature infants in Perinatal Centers, combined with the use of advanced technologies from specialized ophthalmological centers, allow for timely high-tech treatment of active ROP, which ensures that the incidence of severe, disabling forms of the disease is minimized.","PeriodicalId":21550,"journal":{"name":"Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics)","volume":"53 2","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-07-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141653251","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}
Pub Date : 2024-07-11DOI: 10.21508/1027-4065-2024-69-3-29-36
N. Savenkova, Zh. G. Leviashvili, V. N. Barsukova, O. V. Lyubimova
The literature review presents current concepts of the pathogenesis, features of phenotype, course, and prognosis of orphan disease — generalized arterial calcification of infancy, type 1 due to mutation of the ENPP1 gene and type 2 due to mutation in the ABCC6 gene. The published results of clinical observations confirmed the effectiveness of bisphosphonate therapy in pediatric patients with generalized arterial calcification of infancy type 2. The enzyme replacement therapy with recombinant ENPP1, which can prevent arterial calcification and intima proliferation, reduce hypertension and mortality in an experiment on mouse models of ENPP1 deficiency, is promising.
{"title":"Generalized arterial calcification of infancy due to mutations of the ENPP1 and ABCC6 genes: phenotype features, bisphosphonate therapy","authors":"N. Savenkova, Zh. G. Leviashvili, V. N. Barsukova, O. V. Lyubimova","doi":"10.21508/1027-4065-2024-69-3-29-36","DOIUrl":"https://doi.org/10.21508/1027-4065-2024-69-3-29-36","url":null,"abstract":"The literature review presents current concepts of the pathogenesis, features of phenotype, course, and prognosis of orphan disease — generalized arterial calcification of infancy, type 1 due to mutation of the ENPP1 gene and type 2 due to mutation in the ABCC6 gene. The published results of clinical observations confirmed the effectiveness of bisphosphonate therapy in pediatric patients with generalized arterial calcification of infancy type 2. The enzyme replacement therapy with recombinant ENPP1, which can prevent arterial calcification and intima proliferation, reduce hypertension and mortality in an experiment on mouse models of ENPP1 deficiency, is promising.","PeriodicalId":21550,"journal":{"name":"Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics)","volume":"129 40","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-07-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141656316","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}
Pub Date : 2024-07-11DOI: 10.21508/1027-4065-2024-69-3-6-18
I. Leontyeva
Hypertrophic cardiomyopathy is the leading cause of sudden cardiac death in children and adolescents, which in most cases is caused by life-threatening arrhythmias. The article highlights the main risk factors and problems of preventing sudden cardiac death in children with hypertrophic cardiomyopathy. The modern problems of stratification of the risk of sudden cardiac death in children based on the assessment of risk factors and multifactorial mathematical models of risk are considered. The clinical, functional and genetic markers of the risk of sudden death in children in comparison with the adult population are considered. Indications for cardioverter defibrillator implantation for the prevention of sudden death are presented and its effectiveness is evaluated.
{"title":"Sudden cardiac death in children with hypertrophic cardiomyopathy: approaches to prevention","authors":"I. Leontyeva","doi":"10.21508/1027-4065-2024-69-3-6-18","DOIUrl":"https://doi.org/10.21508/1027-4065-2024-69-3-6-18","url":null,"abstract":"Hypertrophic cardiomyopathy is the leading cause of sudden cardiac death in children and adolescents, which in most cases is caused by life-threatening arrhythmias. The article highlights the main risk factors and problems of preventing sudden cardiac death in children with hypertrophic cardiomyopathy. The modern problems of stratification of the risk of sudden cardiac death in children based on the assessment of risk factors and multifactorial mathematical models of risk are considered. The clinical, functional and genetic markers of the risk of sudden death in children in comparison with the adult population are considered. Indications for cardioverter defibrillator implantation for the prevention of sudden death are presented and its effectiveness is evaluated.","PeriodicalId":21550,"journal":{"name":"Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics)","volume":"105 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-07-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141657538","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}
Pub Date : 2024-07-11DOI: 10.21508/1027-4065-2024-69-3-37-44
V. P. Stupak, E. Keshishyan, S. V. Garina
There is currently an increase in the number of patients diagnosed with autism spectrum disorders due to the broad interpretation of the criteria for this diagnosis and an actual increase in the number of children with impaired communication and behavioral functions. There are different in their cause, but clinically similar conditions that are attributed to this group. However, the difference in pathogenetic causes may require different approaches to treatment — selection of pharmacological and pedagogical methods of therapy and rehabilitation of these clinical conditions.In this article, we plan to discuss possible causes of idiopathic (primary) autism spectrum disorders complex, i.e., when there is no indication that the child has conditions or diseases that may lead to the autism spectrum disorders symptom complex (syndromal autism): perinatal disorders, microanomalies of brain structures, sluggish infections (e.g., CMV infection with smoldering encephalitis), and autoimmune brain damage, chromosomal and genetic diseases with an identified gene with pathogenic significance. When discussing autism spectrum disorders or autism without the above conditions, a genetic model is also assumed, but with the inclusion of a large number of candidate genes, without specifying a clear contribution of each gene to pathogenicity.Numerous studies show that the mechanism of these disorders in autochthonous disease is related to the disruption of synaptic transmission, changes in the ontogenesis of the nervous system in the context of combinations of genetic disorders, as well as the resulting mechanisms of autoinflammatory changes in the structures of the central nervous system. Changes in the permeability of the hematoencephalic barrier, inflammation and disturbance of the glymphatic system are also considered as probable mechanisms of autism spectrum disorders pathophysiology. As a result of impaired synaptogenesis, differentiation and neurogenesis, the resulting excitotoxicity of neurotransmitters and their metabolites, reliably contribute to the formation of the maintenance of this process.
{"title":"Pathogenetic aspects of the development of autism spectrum disorders","authors":"V. P. Stupak, E. Keshishyan, S. V. Garina","doi":"10.21508/1027-4065-2024-69-3-37-44","DOIUrl":"https://doi.org/10.21508/1027-4065-2024-69-3-37-44","url":null,"abstract":"There is currently an increase in the number of patients diagnosed with autism spectrum disorders due to the broad interpretation of the criteria for this diagnosis and an actual increase in the number of children with impaired communication and behavioral functions. There are different in their cause, but clinically similar conditions that are attributed to this group. However, the difference in pathogenetic causes may require different approaches to treatment — selection of pharmacological and pedagogical methods of therapy and rehabilitation of these clinical conditions.In this article, we plan to discuss possible causes of idiopathic (primary) autism spectrum disorders complex, i.e., when there is no indication that the child has conditions or diseases that may lead to the autism spectrum disorders symptom complex (syndromal autism): perinatal disorders, microanomalies of brain structures, sluggish infections (e.g., CMV infection with smoldering encephalitis), and autoimmune brain damage, chromosomal and genetic diseases with an identified gene with pathogenic significance. When discussing autism spectrum disorders or autism without the above conditions, a genetic model is also assumed, but with the inclusion of a large number of candidate genes, without specifying a clear contribution of each gene to pathogenicity.Numerous studies show that the mechanism of these disorders in autochthonous disease is related to the disruption of synaptic transmission, changes in the ontogenesis of the nervous system in the context of combinations of genetic disorders, as well as the resulting mechanisms of autoinflammatory changes in the structures of the central nervous system. Changes in the permeability of the hematoencephalic barrier, inflammation and disturbance of the glymphatic system are also considered as probable mechanisms of autism spectrum disorders pathophysiology. As a result of impaired synaptogenesis, differentiation and neurogenesis, the resulting excitotoxicity of neurotransmitters and their metabolites, reliably contribute to the formation of the maintenance of this process.","PeriodicalId":21550,"journal":{"name":"Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics)","volume":"72 12","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-07-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141658374","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}
Pub Date : 2024-07-11DOI: 10.21508/1027-4065-2024-69-3-19-28
I. V. Zhuravleva, I. Y. Zyablova, E. A. Sarkisyan, L. D. Vorona, S. V. Dumova, E. I. Shabelnikova, I. N. Tulsky, P. Shumilov
The last weeks of pregnancy are a critical period of intrauterine development of the central nervous system. In late preterm infants born at gestational age 340/7 — 366/7 weeks, the maturation of the central nervous system continues postnatally, which determines its high vulnerability to various pathologic effects. Morphofunctional immaturity and frequent complications of the neonatal period increase the likelihood of early brain lesions leading to further disorders of neuropsychiatric development. Even in the absence of clinically significant neurological abnormalities in the neonatal period, late preterm neonates have a risk of social-adaptive, behavioral, motor and cognitive impairments in later life. Predicting the outcome of central nervous system lesions in late preterm neonates is possible with the help of neuroimaging methods, as well as with the use of specialized tools to assess various areas of psychomotor development. Modern approaches to prevent neurological complications include prevention and treatment of hypoxia, hypoglycemia, hyperbilirubinemia, infections, provision of adequate nutritional support and adherence to vaccination in late preterm neonates.
{"title":"Peculiarities of development and lesions of the central nervous system in late preterm newborns","authors":"I. V. Zhuravleva, I. Y. Zyablova, E. A. Sarkisyan, L. D. Vorona, S. V. Dumova, E. I. Shabelnikova, I. N. Tulsky, P. Shumilov","doi":"10.21508/1027-4065-2024-69-3-19-28","DOIUrl":"https://doi.org/10.21508/1027-4065-2024-69-3-19-28","url":null,"abstract":"The last weeks of pregnancy are a critical period of intrauterine development of the central nervous system. In late preterm infants born at gestational age 340/7 — 366/7 weeks, the maturation of the central nervous system continues postnatally, which determines its high vulnerability to various pathologic effects. Morphofunctional immaturity and frequent complications of the neonatal period increase the likelihood of early brain lesions leading to further disorders of neuropsychiatric development. Even in the absence of clinically significant neurological abnormalities in the neonatal period, late preterm neonates have a risk of social-adaptive, behavioral, motor and cognitive impairments in later life. Predicting the outcome of central nervous system lesions in late preterm neonates is possible with the help of neuroimaging methods, as well as with the use of specialized tools to assess various areas of psychomotor development. Modern approaches to prevent neurological complications include prevention and treatment of hypoxia, hypoglycemia, hyperbilirubinemia, infections, provision of adequate nutritional support and adherence to vaccination in late preterm neonates.","PeriodicalId":21550,"journal":{"name":"Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics)","volume":"131 37","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-07-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141656517","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}
Pub Date : 2024-07-11DOI: 10.21508/1027-4065-2024-69-3-45-50
M. Aksenova, K. M. Tutelman, L. L. Anikalchuk
X-linked Alport syndrome is multisystem disease caused by mutation in COL4A5. Aortic dilatation described in X-linked Alport syndrome is considered a specific manifestation of the disease.Purpose. To define prevalence and risk factors for aortic dilatation in boys with X-linked Alport syndrome.Methods. Retrospective cross-section single center study included boys with X-linked Alport syndrome (n=67, age 10.2±4.6), comparison group consisted of boys with congenital urinary tract abnormalities (n=20, age12.2±4.8). All patients underwent on clinical-laboratory examination and echocardiography. Aorta was measured in the parasternal long-axis view at level of the sinus of Valsalva, aortic dilatation was determined by z-score >2 for BSA.Results. The prevalence of sinus of Valsalva dilatation did not differ between two groups (0.1 vs 0.15; p=0.47). The sinus of Valsalva dilatation was associated with body mass index (p=0.019), left ventricular diastolic diameter (p=0.01) and left ventricular mass (p=0.01) in children with congenital urinary tract abnormalities, with body mass index (p=0.02) and left ventricular diastolic diameter (p=0.03) in boys with Alport syndrome. No statistically significant effect of blood pressure level, proteinuria, eGFR and type of COL4A5 mutation on aortic dilatation has been demonstrated.Conclusion. The prevalence of aortic dilatation in boys with X-linked Alport syndrome is higher than in general population, but comparable to children with congenital urinary tract abnormalities. The body mass index and left ventricular diastolic diameter were associated with aortic dilatation in Alport syndrome males. We did not show the relationship between blood pressure load, proteinuria, eGFR and aortic dilatation. Study limitations: small sample size, prevalence of young patients with chronic kidney diseases stage 1–2 and missense mutations in the COL4A5 gene.
X 连锁阿尔波特综合征是一种由 COL4A5 基因突变引起的多系统疾病。X 连锁 Alport 综合征中的主动脉扩张被认为是该病的一种特殊表现。明确 X 连锁阿尔波特综合征男孩主动脉扩张的患病率和风险因素。回顾性横断面单中心研究包括患有X连锁阿尔波特综合征的男孩（n=67，年龄为10.2±4.6），对比组包括患有先天性尿路异常的男孩（n=20，年龄为12.2±4.8）。所有患者均接受了临床实验室检查和超声心动图检查。在Valsalva窦水平的胸骨旁长轴切面上测量主动脉，根据BSA的z-score>2确定主动脉扩张。两组间瓦氏窦扩张的发生率无差异（0.1 vs 0.15；P=0.47）。先天性尿路异常儿童的瓦尔萨尔瓦窦扩张与体重指数（p=0.019）、左心室舒张期直径（p=0.01）和左心室质量（p=0.01）有关，而阿尔波特综合征男孩的瓦尔萨尔瓦窦扩张与体重指数（p=0.02）和左心室舒张期直径（p=0.03）有关。血压水平、蛋白尿、eGFR和COL4A5突变类型对主动脉扩张没有统计学意义。X-连锁阿尔波特综合征男孩主动脉扩张的发病率高于普通人群，但与患有先天性尿路异常的儿童相当。体重指数和左心室舒张期直径与阿尔波特综合征男性主动脉扩张有关。我们没有发现血压负荷、蛋白尿、eGFR 和主动脉扩张之间的关系。研究局限性：样本量较小、慢性肾脏病1-2期年轻患者的发病率较高、COL4A5基因存在错义突变。
{"title":"Prevalence and risk factors for dilatation of sinus of Valsalva in boys with X-linked Alport syndrome","authors":"M. Aksenova, K. M. Tutelman, L. L. Anikalchuk","doi":"10.21508/1027-4065-2024-69-3-45-50","DOIUrl":"https://doi.org/10.21508/1027-4065-2024-69-3-45-50","url":null,"abstract":"X-linked Alport syndrome is multisystem disease caused by mutation in COL4A5. Aortic dilatation described in X-linked Alport syndrome is considered a specific manifestation of the disease.Purpose. To define prevalence and risk factors for aortic dilatation in boys with X-linked Alport syndrome.Methods. Retrospective cross-section single center study included boys with X-linked Alport syndrome (n=67, age 10.2±4.6), comparison group consisted of boys with congenital urinary tract abnormalities (n=20, age12.2±4.8). All patients underwent on clinical-laboratory examination and echocardiography. Aorta was measured in the parasternal long-axis view at level of the sinus of Valsalva, aortic dilatation was determined by z-score >2 for BSA.Results. The prevalence of sinus of Valsalva dilatation did not differ between two groups (0.1 vs 0.15; p=0.47). The sinus of Valsalva dilatation was associated with body mass index (p=0.019), left ventricular diastolic diameter (p=0.01) and left ventricular mass (p=0.01) in children with congenital urinary tract abnormalities, with body mass index (p=0.02) and left ventricular diastolic diameter (p=0.03) in boys with Alport syndrome. No statistically significant effect of blood pressure level, proteinuria, eGFR and type of COL4A5 mutation on aortic dilatation has been demonstrated.Conclusion. The prevalence of aortic dilatation in boys with X-linked Alport syndrome is higher than in general population, but comparable to children with congenital urinary tract abnormalities. The body mass index and left ventricular diastolic diameter were associated with aortic dilatation in Alport syndrome males. We did not show the relationship between blood pressure load, proteinuria, eGFR and aortic dilatation. Study limitations: small sample size, prevalence of young patients with chronic kidney diseases stage 1–2 and missense mutations in the COL4A5 gene.","PeriodicalId":21550,"journal":{"name":"Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics)","volume":"102 23","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-07-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141657371","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}
Pub Date : 2024-05-10DOI: 10.21508/1027-4065-2024-69-2-117-126
A. K. Varisova, A. M. Svirava, E. V. Dudnikova, A. S. Badyan, E. A. Besedina, M. S. Chernova
Despite the relatively low prevalence in the world and in Russia, in particular, of such a pathology as cyclic vomiting syndrome, the relevance of the problem is due to the lack of research and sufficient information about the etiology, pathogenesis, and most importantly about methods of treatment and prevention of the disease. This syndrome is typical for children aged 3 to 7 years and is manifested by repeated stereotypical episodes of vomiting, alternating with periods of complete well-being. Cyclic vomiting syndrome worsens the child’s quality of life and seriously affects their further development and socialization. The article provides an overview of scientific research on cyclic vomiting syndrome in children.
{"title":"Modern concepts about cyclic vomiting syndrome in children","authors":"A. K. Varisova, A. M. Svirava, E. V. Dudnikova, A. S. Badyan, E. A. Besedina, M. S. Chernova","doi":"10.21508/1027-4065-2024-69-2-117-126","DOIUrl":"https://doi.org/10.21508/1027-4065-2024-69-2-117-126","url":null,"abstract":"Despite the relatively low prevalence in the world and in Russia, in particular, of such a pathology as cyclic vomiting syndrome, the relevance of the problem is due to the lack of research and sufficient information about the etiology, pathogenesis, and most importantly about methods of treatment and prevention of the disease. This syndrome is typical for children aged 3 to 7 years and is manifested by repeated stereotypical episodes of vomiting, alternating with periods of complete well-being. Cyclic vomiting syndrome worsens the child’s quality of life and seriously affects their further development and socialization. The article provides an overview of scientific research on cyclic vomiting syndrome in children.","PeriodicalId":21550,"journal":{"name":"Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics)","volume":" 34","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-05-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140993979","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}
Pub Date : 2024-05-10DOI: 10.21508/1027-4065-2024-69-2-92-100
L. N. Mazankova, O. Kalyuzhin, N. Dracheva, O. I. Klimova, E. Samitova
In conditions of co-circulation of COVID-19 pathogens and other acute respiratory infections, the risk of simultaneous infection with SARS-CoV-2 and other pathogens, in particular influenza viruses, increases. Previously published data on the mutual influence of such combined infectious processes are very contradictory.Purpose. To determine the clinical and immunological features of the combined course of COVID-19 and influenza in children.Material and methods. Among 3,983 hospitalized children with COVID-19, 48 patients (1.2%) co-infected with influenza A and B viruses were identified by PCR. 31 children with a combination of COVID-19/Influenza were subjected to in-depth examination. The comparison group consisted of 30 children with SARS-CoV-2 monoinfection. In addition to standard physical, instrumental and laboratory studies, serum levels of IgM and IgG to SARS-CoV-2 S protein were determined in patients of the compared groups using ELISA.Results. In children with a combination of influenza and infection caused by both delta and omicron variants of SARS-CoV-2, acute bronchitis was more common, regardless of age, compared with patients with SARS-CoV-2 monoinfection. Co-infection with the influenza virus did not change the incidence of pneumonia in patients with omicron-SARS-CoV-2 infection, and in patients with delta-SARS-CoV-2 infection it decreased it. In co-infected children, the severity of intoxication syndrome and the level of D-dimer in the blood were higher. In addition, patients with a combination of COVID-19 and influenza showed lower concentrations of IgM and IgG to S-protein in comparison with patients with SARS-CoV-2 monoinfection.Conclusion. Co-infection with influenza viruses alters the clinical course of COVID-19, while the nature and vector of changes depend on the SARS-CoV-2 gene variant. A decrease in the severity of the humoral immune response to SARS-CoV-2 in co-infected children was found.
{"title":"COVID-19 and the flu: clinical and immunological features in children","authors":"L. N. Mazankova, O. Kalyuzhin, N. Dracheva, O. I. Klimova, E. Samitova","doi":"10.21508/1027-4065-2024-69-2-92-100","DOIUrl":"https://doi.org/10.21508/1027-4065-2024-69-2-92-100","url":null,"abstract":"In conditions of co-circulation of COVID-19 pathogens and other acute respiratory infections, the risk of simultaneous infection with SARS-CoV-2 and other pathogens, in particular influenza viruses, increases. Previously published data on the mutual influence of such combined infectious processes are very contradictory.Purpose. To determine the clinical and immunological features of the combined course of COVID-19 and influenza in children.Material and methods. Among 3,983 hospitalized children with COVID-19, 48 patients (1.2%) co-infected with influenza A and B viruses were identified by PCR. 31 children with a combination of COVID-19/Influenza were subjected to in-depth examination. The comparison group consisted of 30 children with SARS-CoV-2 monoinfection. In addition to standard physical, instrumental and laboratory studies, serum levels of IgM and IgG to SARS-CoV-2 S protein were determined in patients of the compared groups using ELISA.Results. In children with a combination of influenza and infection caused by both delta and omicron variants of SARS-CoV-2, acute bronchitis was more common, regardless of age, compared with patients with SARS-CoV-2 monoinfection. Co-infection with the influenza virus did not change the incidence of pneumonia in patients with omicron-SARS-CoV-2 infection, and in patients with delta-SARS-CoV-2 infection it decreased it. In co-infected children, the severity of intoxication syndrome and the level of D-dimer in the blood were higher. In addition, patients with a combination of COVID-19 and influenza showed lower concentrations of IgM and IgG to S-protein in comparison with patients with SARS-CoV-2 monoinfection.Conclusion. Co-infection with influenza viruses alters the clinical course of COVID-19, while the nature and vector of changes depend on the SARS-CoV-2 gene variant. A decrease in the severity of the humoral immune response to SARS-CoV-2 in co-infected children was found.","PeriodicalId":21550,"journal":{"name":"Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics)","volume":" 40","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-05-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140993019","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}
Pub Date : 2024-05-10DOI: 10.21508/1027-4065-2024-69-2-56-64
E. D. Belousova, O. Groznova, V. Voinova
The progress of genetic diagnostic methods and a significant improvement in the quality of next-generation sequencing (NGS) have led to a revolution in the study of the genetics of epilepsy. Genome-wide sequencing (PSG) is the «gold standard» in genetic research in epilepsy.Material and methods. Genome-wide sequencing was performed in 168 probands aged from 1 month to 18 years with a suspected diagnosis of genetic epilepsy. PSG was prescribed to patients who, alongside with epilepsy, had delayed intellectual/speech development and/or motor disorders and behavioral disorders.Results. According to the results of PSG, genetic variants related to the phenotype of the disease were detected in 137 out of 168 (81.5%) children, variations in the number of DNA copies were noted in 14 out of 168 (8.3%) patients. Variants with unclear clinical significance were described in 35 of 137 (25.54%). In the remaining 102 out of 137 (74.45%) patients, the identified causative genetic variants were described as probably pathogenic and pathogenic. Monogenic developmental and epileptic encephalopathies (DEE) were detected in 37/137 or 27% of all patients, while the spectrum of these genetic encephalopathies was extremely wide (from DEE type 1 to DEE type 97). In 52/137 (37.9%) children, the presence of a specific genetic syndrome outside the framework of the DEE, classified in OMIM, was confirmed.Conclusion. The results confirm the high informative value of genome-wide sequencing in a group of children with a combination of epilepsy, intellectual, speech, motor and behavioral disorders. In most cases, the results allow either to prescribe a genotype-oriented symptomatic (less often pathogenetic) treatment, or rationally justify the tactics of further observation and examination, as well as to increase the effectiveness of medical and genetic counseling. The authors express their sincere gratitude to the Charity foundation for medical and social genetic aid projects «Life Genome” for assistance in conducting genome-wide sequencing of most of the described patients.
基因诊断方法的进步和下一代测序（NGS）质量的显著提高引发了癫痫遗传学研究的一场革命。全基因组测序（PSG）是癫痫遗传学研究的 "黄金标准"。对 168 名年龄在 1 个月至 18 岁之间的疑似遗传性癫痫患者进行了全基因组测序。PSG适用于除癫痫外还伴有智力/语言发育迟缓和/或运动障碍和行为障碍的患者。根据 PSG 的结果，168 名儿童中有 137 名（81.5%）发现了与疾病表型相关的基因变异，168 名患者中有 14 名（8.3%）发现了 DNA 拷贝数的变异。137名患者中有35名（25.54%）存在临床意义不明的变异。在 137 例患者中的其余 102 例（74.45%）中，已确定的致病基因变异被描述为可能致病和致病。在 37/137 例（占患者总数的 27%）患者中发现了单基因发育性癫痫性脑病（DEE），而这些遗传性脑病的病谱极为广泛（从 DEE 1 型到 DEE 97 型）。在 52/137 例（37.9%）患儿中，确认了在 DEE 框架之外存在一种特定的遗传综合征，并在 OMIM 中进行了分类。研究结果证实，全基因组测序在一组合并癫痫、智力、语言、运动和行为障碍的儿童中具有很高的信息价值。在大多数情况下，这些结果可以用于以基因型为导向的对症治疗（较少用于病因治疗），或合理地证明进一步观察和检查的策略是正确的，还可以提高医疗和遗传咨询的有效性。作者衷心感谢医疗和社会基因援助项目慈善基金会 "生命基因组 "在对大部分上述患者进行全基因组测序方面提供的帮助。
{"title":"Genome-wide sequencing in children with epilepsy and developmental disorders","authors":"E. D. Belousova, O. Groznova, V. Voinova","doi":"10.21508/1027-4065-2024-69-2-56-64","DOIUrl":"https://doi.org/10.21508/1027-4065-2024-69-2-56-64","url":null,"abstract":"The progress of genetic diagnostic methods and a significant improvement in the quality of next-generation sequencing (NGS) have led to a revolution in the study of the genetics of epilepsy. Genome-wide sequencing (PSG) is the «gold standard» in genetic research in epilepsy.Material and methods. Genome-wide sequencing was performed in 168 probands aged from 1 month to 18 years with a suspected diagnosis of genetic epilepsy. PSG was prescribed to patients who, alongside with epilepsy, had delayed intellectual/speech development and/or motor disorders and behavioral disorders.Results. According to the results of PSG, genetic variants related to the phenotype of the disease were detected in 137 out of 168 (81.5%) children, variations in the number of DNA copies were noted in 14 out of 168 (8.3%) patients. Variants with unclear clinical significance were described in 35 of 137 (25.54%). In the remaining 102 out of 137 (74.45%) patients, the identified causative genetic variants were described as probably pathogenic and pathogenic. Monogenic developmental and epileptic encephalopathies (DEE) were detected in 37/137 or 27% of all patients, while the spectrum of these genetic encephalopathies was extremely wide (from DEE type 1 to DEE type 97). In 52/137 (37.9%) children, the presence of a specific genetic syndrome outside the framework of the DEE, classified in OMIM, was confirmed.Conclusion. The results confirm the high informative value of genome-wide sequencing in a group of children with a combination of epilepsy, intellectual, speech, motor and behavioral disorders. In most cases, the results allow either to prescribe a genotype-oriented symptomatic (less often pathogenetic) treatment, or rationally justify the tactics of further observation and examination, as well as to increase the effectiveness of medical and genetic counseling. The authors express their sincere gratitude to the Charity foundation for medical and social genetic aid projects «Life Genome” for assistance in conducting genome-wide sequencing of most of the described patients.","PeriodicalId":21550,"journal":{"name":"Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics)","volume":" 4","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-05-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140991938","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}
Pub Date : 2024-05-10DOI: 10.21508/1027-4065-2024-69-2-86-91
Y. Mizernitskiy, A. Novak, T. N. Pronkina, E. S. Ryngachenko, L. V. Sokolova, S. Diakova, I. E. Zorina, P. A. Shatokha, A. R. Shudueva
Purpose. To assess the reversibility of bronchial obstruction in patients with primary ciliary dyskinesia in groups with and without concomitant allergic inflammation, with the aim of a differentiated approach to inhalation therapy and the validity of prescribing bronchodilators.Material and methods. Retrospective analysis of the results of FEV1 before and after inhalation of a bronchodilator and study of the dependence of the reversibility of obstruction on the presence of atopy markers.Results. Of 100 patients, 63% (n=63) had atopy markers; 37% (n=37) did not have these markers (p≤0.05). When comparing the FEV1 indicator in children with the presence of allergic burden (n=63) and in the absence of it (n=37), it was found that in patients with markers of atopy, obstructive changes identified during spirometry were 14.2% more common ( p≤0.05). Reversibility of bronchial obstruction was recorded in 24% (n=24), of which 87.5% (n=21) of patients had markers of atopy (p≤0.05). In children with concomitant allergic burden and a decrease in FEV1, reversibility of obstruction was detected in 48.4% (n=15) of cases (p≤0.05). It was revealed that in patients with the presence of atopy markers and a decrease in FEV1≤80%, reversibility of obstruction occurs 42.8% more often compared to the group of patients with a normal level of FEV1 (p≤0.05).Conclusions. The vast majority of patients with primary ciliary dyskinesia (n=63) have markers of atopy, mainly due to an isolated increase in total IgE in the blood serum (p≤0.05). A decrease in FEV1≤80% in children with allergies was detected 14.2% more often compared to the group of children without it (p≤0.05). In the vast majority of patients with an allergic phenotype, reversibility of obstruction was observed after a test with a bronchodilator. Thus, all patients with primary ciliary dyskinesia and the presence of atopy markers are recommended to undergo a test with a bronchodilator, and if reversibility of obstruction is detected, it is advisable to add a bronchodilator drug to therapy.
{"title":"Reversibility of bronchial obstruction in patients with primary ciliary dyskinesia to justify correction of inhalation therapy","authors":"Y. Mizernitskiy, A. Novak, T. N. Pronkina, E. S. Ryngachenko, L. V. Sokolova, S. Diakova, I. E. Zorina, P. A. Shatokha, A. R. Shudueva","doi":"10.21508/1027-4065-2024-69-2-86-91","DOIUrl":"https://doi.org/10.21508/1027-4065-2024-69-2-86-91","url":null,"abstract":"Purpose. To assess the reversibility of bronchial obstruction in patients with primary ciliary dyskinesia in groups with and without concomitant allergic inflammation, with the aim of a differentiated approach to inhalation therapy and the validity of prescribing bronchodilators.Material and methods. Retrospective analysis of the results of FEV1 before and after inhalation of a bronchodilator and study of the dependence of the reversibility of obstruction on the presence of atopy markers.Results. Of 100 patients, 63% (n=63) had atopy markers; 37% (n=37) did not have these markers (p≤0.05). When comparing the FEV1 indicator in children with the presence of allergic burden (n=63) and in the absence of it (n=37), it was found that in patients with markers of atopy, obstructive changes identified during spirometry were 14.2% more common ( p≤0.05). Reversibility of bronchial obstruction was recorded in 24% (n=24), of which 87.5% (n=21) of patients had markers of atopy (p≤0.05). In children with concomitant allergic burden and a decrease in FEV1, reversibility of obstruction was detected in 48.4% (n=15) of cases (p≤0.05). It was revealed that in patients with the presence of atopy markers and a decrease in FEV1≤80%, reversibility of obstruction occurs 42.8% more often compared to the group of patients with a normal level of FEV1 (p≤0.05).Conclusions. The vast majority of patients with primary ciliary dyskinesia (n=63) have markers of atopy, mainly due to an isolated increase in total IgE in the blood serum (p≤0.05). A decrease in FEV1≤80% in children with allergies was detected 14.2% more often compared to the group of children without it (p≤0.05). In the vast majority of patients with an allergic phenotype, reversibility of obstruction was observed after a test with a bronchodilator. Thus, all patients with primary ciliary dyskinesia and the presence of atopy markers are recommended to undergo a test with a bronchodilator, and if reversibility of obstruction is detected, it is advisable to add a bronchodilator drug to therapy.","PeriodicalId":21550,"journal":{"name":"Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics)","volume":" 87","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-05-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140993368","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}
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