首页 > 最新文献

Russian Journal of Child Neurology最新文献

英文 中文
Jacobsen syndrome. Literature review and a case report 雅各布森综合症。文献综述及病例报告1例
Pub Date : 2022-09-13 DOI: 10.17650/2073-8803-2022-17-2-55-60
A. V. Syrkina, N. V. Chebanenko, V. Zykov, N. S. Mikhailova
The article presents a literature review of chromosomal deletion syndrome – terminal deletion of the long arm of chromosome 11, Jacobsen syndrome, manifested by skeletal abnormalities, congenital heart defects, developmental delay, autism. The disease is of clinical interest in connection with a specific phenotype and life-threatening, but potentially curable conditions: bleeding and immunodeficiency. The analysis of informationally significant genes of the chromosome 11 deletion site is presented. A case report of a girl with Jacobsen syndrome with a follow-up history of up to 6 years is presented. In the observed case, previously unremarked symptoms were described: ataxia and retropulsion. The differential diagnosis and criteria for hypomyelination syndrome are also analyzed. Recommendations are given for the management of life-threatening conditions in patients in accordance with American protocols.
本文综述了染色体缺失综合征——11号染色体长臂末端缺失、Jacobsen综合征,主要表现为骨骼异常、先天性心脏缺陷、发育迟缓、自闭症等。该疾病与一种特定的表型和危及生命但可能治愈的疾病有关,具有临床意义:出血和免疫缺陷。对11号染色体缺失位点的信息显著基因进行了分析。一个病例报告的女孩与雅各布森综合征的随访史长达6年提出。在观察到的病例中,描述了先前未注意到的症状:共济失调和后退。本文还分析了低髓鞘综合征的鉴别诊断及诊断标准。根据美国的协议,对危及生命的疾病的管理提出了建议。
{"title":"Jacobsen syndrome. Literature review and a case report","authors":"A. V. Syrkina, N. V. Chebanenko, V. Zykov, N. S. Mikhailova","doi":"10.17650/2073-8803-2022-17-2-55-60","DOIUrl":"https://doi.org/10.17650/2073-8803-2022-17-2-55-60","url":null,"abstract":"The article presents a literature review of chromosomal deletion syndrome – terminal deletion of the long arm of chromosome 11, Jacobsen syndrome, manifested by skeletal abnormalities, congenital heart defects, developmental delay, autism. The disease is of clinical interest in connection with a specific phenotype and life-threatening, but potentially curable conditions: bleeding and immunodeficiency. The analysis of informationally significant genes of the chromosome 11 deletion site is presented. A case report of a girl with Jacobsen syndrome with a follow-up history of up to 6 years is presented. In the observed case, previously unremarked symptoms were described: ataxia and retropulsion. The differential diagnosis and criteria for hypomyelination syndrome are also analyzed. Recommendations are given for the management of life-threatening conditions in patients in accordance with American protocols.","PeriodicalId":196950,"journal":{"name":"Russian Journal of Child Neurology","volume":"13 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-09-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"128525854","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}
引用次数: 0
Analysis of the regression of transient neurological symptoms in newborns during physiological childbirth 新生儿生理分娩时短暂性神经系统症状消退分析
Pub Date : 2022-09-12 DOI: 10.17650/2073-8803-2022-17-2-21-29
A. V. Petrova, E. Morozova, A. Khasanov
The authors of the article substantiate the high significance and prognostic value of transient neurological symptoms in newborns. The study showed a greater variety and a lower rate of symptoms regression in the part of neurological disorders during physiological childbirth in the second position of the fetus. There are data on a higher frequency of some variants of torticollis in the second position of the fetus, cephalohematoma during childbirth in the second position was also significantly more often found. The findings are important for the prevention of neurological disorders and revision of some aspects of obstetric tactics.
这篇文章的作者证实了新生儿短暂性神经症状的高度重要性和预后价值。研究表明,在第二胎位生理性分娩时,部分神经系统疾病种类较多,症状消退率较低。有资料表明,某些变异的斜颈发生在胎儿第二体位的频率较高,分娩时发生在第二体位的脑血肿也明显更常见。这些发现对于预防神经系统疾病和修改产科策略的某些方面具有重要意义。
{"title":"Analysis of the regression of transient neurological symptoms in newborns during physiological childbirth","authors":"A. V. Petrova, E. Morozova, A. Khasanov","doi":"10.17650/2073-8803-2022-17-2-21-29","DOIUrl":"https://doi.org/10.17650/2073-8803-2022-17-2-21-29","url":null,"abstract":"The authors of the article substantiate the high significance and prognostic value of transient neurological symptoms in newborns. The study showed a greater variety and a lower rate of symptoms regression in the part of neurological disorders during physiological childbirth in the second position of the fetus. There are data on a higher frequency of some variants of torticollis in the second position of the fetus, cephalohematoma during childbirth in the second position was also significantly more often found. The findings are important for the prevention of neurological disorders and revision of some aspects of obstetric tactics.","PeriodicalId":196950,"journal":{"name":"Russian Journal of Child Neurology","volume":"3 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-09-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"126145543","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}
引用次数: 0
Therapy with Cogitum in children with speech disorders Cogitum治疗儿童语言障碍
Pub Date : 2022-09-12 DOI: 10.17650/2073-8803-2022-17-2-30-36
M. Bobylova
Developmental dysphasia is a speech disorder with normal hearing and intelligence, which develops against the background of organic brain damage in the period up to 3 years of life. In addition to speech disorders in dysphasia, motor and coordinator, sensory (disturbances in sensitivity and perception), and psychopathological manifestations can be noted. Diagnosis of speech disorders is very difficult, requires the exclusion of hearing loss and mental illness. After a successful diagnosis, speech therapy correction, behavioral therapy and developmental sessions with a psychologist are necessary. In some cases, neurotrophic drugs are prescribed. This article analyzes our own data on the use of the drug “Cogitum” in 140 children in comparison with the control group (n = 40), who had the same classes as in the main group, but without the use of Cogitum. Improvement in group 1 was shown.
发展性言语障碍是一种听力和智力正常的语言障碍,在器质性脑损伤的背景下发展到3岁。除了言语障碍外,还可以注意到运动和协调、感觉(敏感性和知觉障碍)和精神病理表现。言语障碍的诊断非常困难,需要排除听力损失和精神疾病。诊断成功后,言语矫正、行为治疗和心理学家的发展课程是必要的。在某些情况下,医生会开神经营养药物。本文分析了140名儿童使用“Cogitum”药物的数据,并与对照组(n = 40)进行了比较,对照组与主要组的班级相同,但不使用Cogitum。第一组有明显改善。
{"title":"Therapy with Cogitum in children with speech disorders","authors":"M. Bobylova","doi":"10.17650/2073-8803-2022-17-2-30-36","DOIUrl":"https://doi.org/10.17650/2073-8803-2022-17-2-30-36","url":null,"abstract":"Developmental dysphasia is a speech disorder with normal hearing and intelligence, which develops against the background of organic brain damage in the period up to 3 years of life. In addition to speech disorders in dysphasia, motor and coordinator, sensory (disturbances in sensitivity and perception), and psychopathological manifestations can be noted. Diagnosis of speech disorders is very difficult, requires the exclusion of hearing loss and mental illness. After a successful diagnosis, speech therapy correction, behavioral therapy and developmental sessions with a psychologist are necessary. In some cases, neurotrophic drugs are prescribed. This article analyzes our own data on the use of the drug “Cogitum” in 140 children in comparison with the control group (n = 40), who had the same classes as in the main group, but without the use of Cogitum. Improvement in group 1 was shown.","PeriodicalId":196950,"journal":{"name":"Russian Journal of Child Neurology","volume":"105 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-09-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"134481086","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}
引用次数: 1
The first combined Russian experience of using perampanel in children and adolescents with epilepsy in everyday clinical practice 第一个结合了俄罗斯在日常临床实践中使用perampanel治疗儿童和青少年癫痫的经验
Pub Date : 2022-09-12 DOI: 10.17650/2073-8803-2022-17-2-8-20
O. Rakhmanina, I. Volkov, O. Volkova, Yu.  A. Aleksandrov, M. V. Barkhatov, I. S. Bakhtin, G.  M. Berezhnaya, S. R. Boldyreva, E.  N. Bochkova, E.  . Gorbunova, A. Karas, D. Morozov, S.  . Nurmukhametova, N. Y. Perunova, S. Sivkova, E. Telegina, T. Tomenko, Zhuzhuna M. Tsotsonava
Background. Real world data help to provide more information on the effects and tolerability of therapy. However, data on the use of perampanel in Russian population of children remain limited.Aim. To conduct a retrospective analysis of perampanel efficacy and tolerability in children and adolescents with epilepsy in real clinical practice.Materials and methods. A total of 106 children aged 4–18 years receiving perampanel as part of combination therapy for epilepsy were observed at 18 centers. Seizure frequency at 1–3, after 6 and 12 months of treatment, presence and type of adverse events (AEs) were analyzed. The main assessed efficacy parameters were seizure control, significant (≥50 %) decrease in seizure frequency. All other outcomes (<50 % decrease, no change or increased seizure frequency) were considered to be no effect. The assessed safety parameters were the percentage of patients with or without AEs and the percentage of perampanel withdrawals due to AEs.Results. We defined 3 age groups for comparison: children 4–6, 7–11 and 12–17 years old. Perampanel efficacy was 69 % (seizure control – 23.6 %, ≥50 % decrease in seizure frequency – 45.3 %). The mean duration of the effect was 7.3 ± 4.1 months. No significant difference in efficacy between age groups was found. However, some greater efficacy of perampanel was noted in adolescents: absence of effect in the form of remission or significant decrease in seizures frequency was noted only in 25.5 %, with 40 % in children 4–11 years old. Among those with inefficacy, 3.8 % reported seizure aggravation. AEs occurred in only 23 % of patients, with the least frequent occurrence in adolescents (11.8 %) and the most frequent in children aged 7–11 years (40 %). The most frequent AEs was sluggishness and/or drowsiness. Discontinuation of perampanel due to AEs was required in 7.6 %.Conclusion. Perampanel has demonstrated high efficacy and good tolerability in real clinical practice among children from 4 years of age and adolescents with partial (focal) and secondary generalized seizures. The AEs that developed were not serious and very rarely led to withdrawal of the therapy. The results are comparable to those of phase III studies and previous real-world data. The usage of perampanel in children with primary generalized seizures should be further investigated.
背景。真实世界的数据有助于提供更多关于治疗效果和耐受性的信息。然而,关于在俄罗斯儿童人口中使用perampanel的数据仍然有限。回顾性分析perampanel在实际临床实践中对儿童和青少年癫痫患者的疗效和耐受性。材料和方法。共有106名4-18岁的儿童在18个中心接受perampanel作为癫痫联合治疗的一部分。分析治疗后1-3个月、6个月和12个月的癫痫发作频率、不良事件(ae)的存在和类型。主要疗效评估参数为癫痫发作控制,癫痫发作频率显著(≥50%)降低。所有其他结果(< 50%下降,无变化或癫痫发作频率增加)被认为没有影响。评估的安全性参数是发生或不发生不良反应的患者的百分比,以及因不良反应而停药的百分比。我们定义了3个年龄组进行比较:4-6岁、7-11岁和12-17岁的儿童。Perampanel的疗效为69%(癫痫发作控制- 23.6%,癫痫发作频率降低≥50% - 45.3%)。平均持续时间为7.3±4.1个月。不同年龄组间疗效无显著差异。然而,perampanel在青少年中有更大的疗效:只有25.5%的人在缓解或癫痫发作频率显著降低方面没有效果,而在4-11岁的儿童中有40%。在无效患者中,3.8%报告癫痫发作加重。ae仅在23%的患者中发生,青少年发生率最低(11.8%),7-11岁儿童发生率最高(40%)。最常见的ae是行动迟缓和/或困倦。7.6%的患者因不良反应而需要停用perampanel。在实际的临床实践中,Perampanel在4岁以上的儿童和青少年部分(局灶性)和继发性全身性癫痫发作中表现出高效率和良好的耐受性。发生的不良反应并不严重,很少导致停药。结果与III期研究和之前的真实世界数据相当。perampanel在原发性全身性癫痫患儿中的应用有待进一步研究。
{"title":"The first combined Russian experience of using perampanel in children and adolescents with epilepsy in everyday clinical practice","authors":"O. Rakhmanina, I. Volkov, O. Volkova, Yu.  A. Aleksandrov, M. V. Barkhatov, I. S. Bakhtin, G.  M. Berezhnaya, S. R. Boldyreva, E.  N. Bochkova, E.  . Gorbunova, A. Karas, D. Morozov, S.  . Nurmukhametova, N. Y. Perunova, S. Sivkova, E. Telegina, T. Tomenko, Zhuzhuna M. Tsotsonava","doi":"10.17650/2073-8803-2022-17-2-8-20","DOIUrl":"https://doi.org/10.17650/2073-8803-2022-17-2-8-20","url":null,"abstract":"Background. Real world data help to provide more information on the effects and tolerability of therapy. However, data on the use of perampanel in Russian population of children remain limited.Aim. To conduct a retrospective analysis of perampanel efficacy and tolerability in children and adolescents with epilepsy in real clinical practice.Materials and methods. A total of 106 children aged 4–18 years receiving perampanel as part of combination therapy for epilepsy were observed at 18 centers. Seizure frequency at 1–3, after 6 and 12 months of treatment, presence and type of adverse events (AEs) were analyzed. The main assessed efficacy parameters were seizure control, significant (≥50 %) decrease in seizure frequency. All other outcomes (<50 % decrease, no change or increased seizure frequency) were considered to be no effect. The assessed safety parameters were the percentage of patients with or without AEs and the percentage of perampanel withdrawals due to AEs.Results. We defined 3 age groups for comparison: children 4–6, 7–11 and 12–17 years old. Perampanel efficacy was 69 % (seizure control – 23.6 %, ≥50 % decrease in seizure frequency – 45.3 %). The mean duration of the effect was 7.3 ± 4.1 months. No significant difference in efficacy between age groups was found. However, some greater efficacy of perampanel was noted in adolescents: absence of effect in the form of remission or significant decrease in seizures frequency was noted only in 25.5 %, with 40 % in children 4–11 years old. Among those with inefficacy, 3.8 % reported seizure aggravation. AEs occurred in only 23 % of patients, with the least frequent occurrence in adolescents (11.8 %) and the most frequent in children aged 7–11 years (40 %). The most frequent AEs was sluggishness and/or drowsiness. Discontinuation of perampanel due to AEs was required in 7.6 %.Conclusion. Perampanel has demonstrated high efficacy and good tolerability in real clinical practice among children from 4 years of age and adolescents with partial (focal) and secondary generalized seizures. The AEs that developed were not serious and very rarely led to withdrawal of the therapy. The results are comparable to those of phase III studies and previous real-world data. The usage of perampanel in children with primary generalized seizures should be further investigated.","PeriodicalId":196950,"journal":{"name":"Russian Journal of Child Neurology","volume":"14 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-09-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"127248572","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}
引用次数: 0
Classification and definition of epilepsy. Position paper by the International League Against Epilepsy on Nosology and Definitions of Epilepsy Syndromes dated 2021 癫痫的分类和定义。国际抗癫痫联盟关于癫痫综合征的分类学和定义的立场文件,日期为2021年
Pub Date : 2022-06-22 DOI: 10.17650/2073-8803-2022-17-1-6-95
K. Mukhin, O. Pylaeva, V. S. Kakaulina, M. Bobylova
This article presents updated and revised diagnostic criteria for epilepsy syndromes proposed in 2021 by the Nosology and Definitions Taskforce of the International League Against Epilepsy (ILAE). The current classification of epilepsy syndromes was developed in 1989. The new ILAE Classification and Definition of Epilepsy Syndromes is a result of huge work of many experts from all over the world. The draft of the new classification is presented on the ILAE website for wide discussion. It includes 4 main sections: 1) classification and definition of epilepsy syndrome with onset in neonates and infants; 2) classification and definition of epilepsy syndromes with onset in childhood; 3) classification and definition of epilepsy syndromes with onset at a variable age; 4) definition of the idiopathic generalized epilepsy syndromes. Each section is based on a thorough analysis of literature and clinical experience of experts. Its main purpose is to identify epilepsy syndromes using the 2017 ILAE classification of epilepsy forms and types of epileptic seizures, as well as to identify specific characteristics of each syndrome to improve clinical diagnosis. For each syndrome, the document provides the details on its epidemiology, clinical manifestations, types of seizures, electroencephalographic features, neuroimaging signs, genetic examination, as well as differential diagnosis with other epilepsy syndromes and various non-epileptic conditions. It introduces mandatory criteria that must be present in order to diagnose the syndrome and alert criteria that are absent in the vast majority of cases within a syndrome, but rarely can be seen. Particular attention is paid to exclusionary criteria that must be absent in order to diagnose the syndrome. When developing the criteria for each epilepsy syndrome, the ILAE Task Force used the latest literature data, including Internet resources and the opinion of experts in this area. The international classification should be applied by specialists from all over the world. It should contain clear and easy-to-understand definitions; the language should be simple and understandable. The new ILAE classification demonstrates revised definitions of well-known electroclinical epilepsy syndromes and proposes a new concept of defining epilepsy syndromes by their etiology (including those syndromes in which pathogenic mutations or structural changes correlate significantly with certain electroclinical phenotype). It also introduces a new etiology-defined class of epilepsy syndromes characterized by specific genetic, metabolic, and structural causes. The document does not cover therapy for epilepsy syndromes; however, for some of them, it specifies the most effective or potentially aggravating antiepileptic drugs. The prospect of further targeted gene therapies development and approval of antiepileptic drugs specific for certain epilepsy syndromes after randomized clinical trials had served as a powerful motivation to introduce
本文介绍了国际抗癫痫联盟(ILAE)的疾病分类和定义工作组在2021年提出的最新和修订的癫痫综合征诊断标准。目前的癫痫综合征分类是在1989年制定的。新的ILAE癫痫综合征分类和定义是来自世界各地的许多专家的大量工作的结果。新分类草案已在ILAE网站上公布,以供广泛讨论。全文包括4个主要部分:1)起病于新生儿和婴幼儿的癫痫综合征的分类和定义;2)儿童期起病癫痫综合征的分类和定义;3)可变年龄癫痫综合征的分类和定义;4)特发性全身性癫痫综合征的定义。每个部分都是基于对文献和专家临床经验的深入分析。其主要目的是利用2017年ILAE癫痫形式和癫痫发作类型分类识别癫痫综合征,并确定每种综合征的具体特征,以提高临床诊断。对于每种综合征,该文件提供了其流行病学,临床表现,癫痫类型,脑电图特征,神经影像学征象,遗传检查以及与其他癫痫综合征和各种非癫痫性疾病的鉴别诊断的详细信息。它引入了诊断综合征必须具备的强制性标准,以及在综合征的绝大多数病例中不存在的警报标准,但很少能看到。特别注意的是排除标准,必须缺席,以诊断该综合征。在制定每种癫痫综合征的标准时,ILAE工作组使用了最新的文献数据,包括互联网资源和该领域专家的意见。国际分类应由来自世界各地的专家应用。它应该包含清晰易懂的定义;语言应该简单易懂。新的ILAE分类对众所周知的癫痫电临床综合征的定义进行了修订,并提出了根据病因定义癫痫综合征的新概念(包括那些致病突变或结构变化与某些电临床表型显著相关的综合征)。它还介绍了一个新的病因定义类癫痫综合征的特点是具体的遗传,代谢和结构原因。该文件不包括癫痫综合征的治疗;然而,对于其中一些人来说,它指定了最有效或可能加重的抗癫痫药物。在随机临床试验后,进一步的靶向基因疗法的开发和特定癫痫综合征的抗癫痫药物的批准的前景,成为引入主要由病因决定的癫痫综合征概念的强大动力。最后,作者对癫痫综合征的分类和定义进行了讨论,并提出了自己的看法、意见、建议和观察。本文旨在使广泛的专家熟悉新的ILAE分类及其细节。除了对上述文件的详细描述外,该文章还提供了关于目前现有的癫痫和癫痫发作分类原则的信息。本文还对ILAE对癫痫综合征的分类和定义进行了讨论和作者的评论。
{"title":"Classification and definition of epilepsy. Position paper by the International League Against Epilepsy on Nosology and Definitions of Epilepsy Syndromes dated 2021","authors":"K. Mukhin, O. Pylaeva, V. S. Kakaulina, M. Bobylova","doi":"10.17650/2073-8803-2022-17-1-6-95","DOIUrl":"https://doi.org/10.17650/2073-8803-2022-17-1-6-95","url":null,"abstract":"This article presents updated and revised diagnostic criteria for epilepsy syndromes proposed in 2021 by the Nosology and Definitions Taskforce of the International League Against Epilepsy (ILAE). The current classification of epilepsy syndromes was developed in 1989. The new ILAE Classification and Definition of Epilepsy Syndromes is a result of huge work of many experts from all over the world. The draft of the new classification is presented on the ILAE website for wide discussion. It includes 4 main sections: 1) classification and definition of epilepsy syndrome with onset in neonates and infants; 2) classification and definition of epilepsy syndromes with onset in childhood; 3) classification and definition of epilepsy syndromes with onset at a variable age; 4) definition of the idiopathic generalized epilepsy syndromes. Each section is based on a thorough analysis of literature and clinical experience of experts. Its main purpose is to identify epilepsy syndromes using the 2017 ILAE classification of epilepsy forms and types of epileptic seizures, as well as to identify specific characteristics of each syndrome to improve clinical diagnosis. For each syndrome, the document provides the details on its epidemiology, clinical manifestations, types of seizures, electroencephalographic features, neuroimaging signs, genetic examination, as well as differential diagnosis with other epilepsy syndromes and various non-epileptic conditions. It introduces mandatory criteria that must be present in order to diagnose the syndrome and alert criteria that are absent in the vast majority of cases within a syndrome, but rarely can be seen. Particular attention is paid to exclusionary criteria that must be absent in order to diagnose the syndrome. When developing the criteria for each epilepsy syndrome, the ILAE Task Force used the latest literature data, including Internet resources and the opinion of experts in this area. The international classification should be applied by specialists from all over the world. It should contain clear and easy-to-understand definitions; the language should be simple and understandable. The new ILAE classification demonstrates revised definitions of well-known electroclinical epilepsy syndromes and proposes a new concept of defining epilepsy syndromes by their etiology (including those syndromes in which pathogenic mutations or structural changes correlate significantly with certain electroclinical phenotype). It also introduces a new etiology-defined class of epilepsy syndromes characterized by specific genetic, metabolic, and structural causes. The document does not cover therapy for epilepsy syndromes; however, for some of them, it specifies the most effective or potentially aggravating antiepileptic drugs. The prospect of further targeted gene therapies development and approval of antiepileptic drugs specific for certain epilepsy syndromes after randomized clinical trials had served as a powerful motivation to introduce","PeriodicalId":196950,"journal":{"name":"Russian Journal of Child Neurology","volume":"35 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-06-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"123177197","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}
引用次数: 2
Effectiveness and tolerability of perampanel in сhildren and adolescents (own experience of Svt. Luka’s Institute of Child Neurology and Epilepsy) perampanel在儿童和青少年中的有效性和耐受性(Svt的亲身经历)。卢卡儿童神经病学和癫痫研究所)
Pub Date : 2022-01-31 DOI: 10.17650/2073-8803-2021-16-4-8-30
K. Mukhin, O. Pylaeva, M. Bobylova
{"title":"Effectiveness and tolerability of perampanel in сhildren and adolescents (own experience of Svt. Luka’s Institute of Child Neurology and Epilepsy)","authors":"K. Mukhin, O. Pylaeva, M. Bobylova","doi":"10.17650/2073-8803-2021-16-4-8-30","DOIUrl":"https://doi.org/10.17650/2073-8803-2021-16-4-8-30","url":null,"abstract":"","PeriodicalId":196950,"journal":{"name":"Russian Journal of Child Neurology","volume":"49 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-01-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"128586435","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}
引用次数: 1
Electroencephalography and analysis of functional brain activity 脑电图和脑功能活动分析
Pub Date : 2022-01-31 DOI: 10.17650/2073-8803-2021-16-4-59-68
S. Gulyaev
Электроэнцефалография (ЭЭГ) дает исследователю возможность анализировать и фиксировать быстропротекающие физиологические процессы в корковых структурах головного мозга, что в настоящий момент практически недоступно для большинства методов функциональных исследований мозга. Однако в технологии клинической ЭЭГ наблюдается определенная стагнация, требующая изменений методологических и технических подходов к реализации ЭЭГ. Целью нашей работы является представление современных возможностей ЭЭГ и ее места в современной медицинской диагностике. В настоящее время подавляющее большинство аппаратных комплексов ЭЭГ включают 8–32 отдельных каналов записи и используют расположение активных электродов на скальпе по системе «10–20». В результате происходит утрата большого объема информации, и исследования ограничиваются исключительно регистрацией отдельных биоэлектрических феноменов, что не позволяет использовать данные ЭЭГ совместно с нейровизуализационными обследованиями с достаточной для последних разрешающей способностью. Решением данной проблемы является использование систем ЭЭГ высокой плотности записи, включающих большое количество первичных электроэнцефалографических сенсоров (128 и более), которые позволяют минимизировать информационные потери первичного этапа. Однако такие системы требуют кардинально иного подхода к технике анализа записей ЭЭГ. Присутствие большего в сравнении с классическими системами объема информации вынуждает применять различные методы математического анализа получаемого сигнала, а также шире использовать методики объединения с информацией иных диагностических методов, прежде всего магнитно-резонансной томографии и функциональной магнитно-резонансной томографии, но в результате это открывает для ученых новые перспективы исследования биоэлектрической активности головного мозга человека.
脑电图(脑电图)使研究人员能够分析和记录大脑皮层结构中快速流动的生理过程,这在大多数大脑功能研究中几乎是不可能的。然而,临床脑电图技术存在一定的停滞,需要改变脑电图实现的方法和技术方法。我们的工作是展示脑电图的现代功能及其在现代医学诊断中的位置。目前,脑电图的绝大多数硬件综合体包括8 - 32个单独的录音通道,并使用10 - 20头皮上主动电极的位置。结果是大量的信息丢失,研究只局限于单个生物电现象的记录,这使得脑电图数据不能与最近的分辨率足够的神经可视化检查一起使用。解决这个问题的方法是使用高密度记录系统,其中包括大量的初级脑电图传感器(128或更多),使初级阶段的信息损失最小化。然而,这些系统需要一种完全不同的方法来分析脑电图记录技术。经典相比大容量信息系统存在强迫适用不同的数学分析方法接收信号,以及宽利用技术与信息联合其他诊断方法,首先核磁共振和功能性mri核磁共振对科学家来说,但是由此打开新的视角研究脑生物电活性人。
{"title":"Electroencephalography and analysis of functional brain activity","authors":"S. Gulyaev","doi":"10.17650/2073-8803-2021-16-4-59-68","DOIUrl":"https://doi.org/10.17650/2073-8803-2021-16-4-59-68","url":null,"abstract":"Электроэнцефалография (ЭЭГ) дает исследователю возможность анализировать и фиксировать быстропротекающие физиологические процессы в корковых структурах головного мозга, что в настоящий момент практически недоступно для большинства методов функциональных исследований мозга. Однако в технологии клинической ЭЭГ наблюдается определенная стагнация, требующая изменений методологических и технических подходов к реализации ЭЭГ. Целью нашей работы является представление современных возможностей ЭЭГ и ее места в современной медицинской диагностике. В настоящее время подавляющее большинство аппаратных комплексов ЭЭГ включают 8–32 отдельных каналов записи и используют расположение активных электродов на скальпе по системе «10–20». В результате происходит утрата большого объема информации, и исследования ограничиваются исключительно регистрацией отдельных биоэлектрических феноменов, что не позволяет использовать данные ЭЭГ совместно с нейровизуализационными обследованиями с достаточной для последних разрешающей способностью. Решением данной проблемы является использование систем ЭЭГ высокой плотности записи, включающих большое количество первичных электроэнцефалографических сенсоров (128 и более), которые позволяют минимизировать информационные потери первичного этапа. Однако такие системы требуют кардинально иного подхода к технике анализа записей ЭЭГ. Присутствие большего в сравнении с классическими системами объема информации вынуждает применять различные методы математического анализа получаемого сигнала, а также шире использовать методики объединения с информацией иных диагностических методов, прежде всего магнитно-резонансной томографии и функциональной магнитно-резонансной томографии, но в результате это открывает для ученых новые перспективы исследования биоэлектрической активности головного мозга человека.","PeriodicalId":196950,"journal":{"name":"Russian Journal of Child Neurology","volume":"7 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-01-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"124218683","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}
引用次数: 0
Electroencephalographic localization of pathological activity areas in dynamics in patients with benign age-dependent focal epilepsy 良性年龄依赖性局灶性癫痫患者动态病理活动区的脑电图定位
Pub Date : 2022-01-31 DOI: 10.17650/2073-8803-2021-16-4-31-41
O. Belyaev, A. V. Stakhovskaya, N. Rezvan
Генетическая фокальная возрастзависимая эпилепсия составляет 25 % среди всех форм у детей с афебрильными приступами и является генетически-детерминированной локализационно-обусловленной формой. Основным паттерном межприступной патологической активности являются доброкачественные эпилептиформные разряды детского возраста в центрально-височных отведениях при роландической форме и с локализацией в задневисочнотеменно-затылочных отведениях при затылочной форме. С целью оценки электроэнцефалографической локализации зон патологической активности в динамике при доброкачественных возрастзависимых локализационно-обусловленных формах эпилепсии нами было проведено наблюдение в течение года за 72 пациентами в возрасте от 6 мес до 10 лет. Наблюдение показало, что независимо от пола и возраста пациента, получаемой терапии электроэнцефалографически регистрируется разнообразие локализации зон патологической активности как в дебюте заболевания, так и через год наблюдения, а также миграция данной активности.
= =遗传= =在患有非传染性疾病的儿童中,基因诱发性癫痫占所有形式的25%,是一种基因决定的局部控制形式。急性间歇性病理活动的主要模式是中心性颞叶反应中的良性癫痫,枕部后顶叶后顶叶反应的局部定位。为了评估脑电图在良性局部作用范围内的病理活动,我们对6个月到10岁的72名患者进行了一年的监测。观察表明,无论接受脑电图治疗的病人的性别和年龄,在疾病首次出现和观察一年后,病理活动区域的范围范围的多样性都被记录下来,以及这种活动的迁移。
{"title":"Electroencephalographic localization of pathological activity areas in dynamics in patients with benign age-dependent focal epilepsy","authors":"O. Belyaev, A. V. Stakhovskaya, N. Rezvan","doi":"10.17650/2073-8803-2021-16-4-31-41","DOIUrl":"https://doi.org/10.17650/2073-8803-2021-16-4-31-41","url":null,"abstract":"Генетическая фокальная возрастзависимая эпилепсия составляет 25 % среди всех форм у детей с афебрильными приступами и является генетически-детерминированной локализационно-обусловленной формой. Основным паттерном межприступной патологической активности являются доброкачественные эпилептиформные разряды детского возраста в центрально-височных отведениях при роландической форме и с локализацией в задневисочнотеменно-затылочных отведениях при затылочной форме. С целью оценки электроэнцефалографической локализации зон патологической активности в динамике при доброкачественных возрастзависимых локализационно-обусловленных формах эпилепсии нами было проведено наблюдение в течение года за 72 пациентами в возрасте от 6 мес до 10 лет. Наблюдение показало, что независимо от пола и возраста пациента, получаемой терапии электроэнцефалографически регистрируется разнообразие локализации зон патологической активности как в дебюте заболевания, так и через год наблюдения, а также миграция данной активности.","PeriodicalId":196950,"journal":{"name":"Russian Journal of Child Neurology","volume":"21 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-01-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"115338767","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}
引用次数: 0
Diagnosis and treatment of brain compression in children with hemostasis disorders 止血障碍患儿脑受压的诊断与治疗
Pub Date : 2022-01-31 DOI: 10.17650/2073-8803-2021-16-4-42-48
M. L. Lagunavichene, S. Larionov, Yu.  A. Aleksandrov, A. V. Livadarov, P. G. Gruzin, A. Rudakova, E. G. Osipova
М.Л. Лагунавичене1, С.Н. Ларионов1, Ю.А. Александров1, А.В. Ливадаров1, П.Г. Грузин1, А.В.Рудакова1, Е.Г. Осипова2 1Нейрохирургическое отделение ОГАУЗ «Городская Ивано-Матренинская детская клиническая больница»; Россия, 664007 Иркутск, ул. Советская, 57; 2отделение патологии и недоношенных детей ОГАУЗ «Городская Ивано-Матренинская детская клиническая больница»; Россия, 664007 Иркутск, ул. Советская, 57
{"title":"Diagnosis and treatment of brain compression in children with hemostasis disorders","authors":"M. L. Lagunavichene, S. Larionov, Yu.  A. Aleksandrov, A. V. Livadarov, P. G. Gruzin, A. Rudakova, E. G. Osipova","doi":"10.17650/2073-8803-2021-16-4-42-48","DOIUrl":"https://doi.org/10.17650/2073-8803-2021-16-4-42-48","url":null,"abstract":"М.Л. Лагунавичене1, С.Н. Ларионов1, Ю.А. Александров1, А.В. Ливадаров1, П.Г. Грузин1, А.В.Рудакова1, Е.Г. Осипова2 1Нейрохирургическое отделение ОГАУЗ «Городская Ивано-Матренинская детская клиническая больница»; Россия, 664007 Иркутск, ул. Советская, 57; 2отделение патологии и недоношенных детей ОГАУЗ «Городская Ивано-Матренинская детская клиническая больница»; Россия, 664007 Иркутск, ул. Советская, 57","PeriodicalId":196950,"journal":{"name":"Russian Journal of Child Neurology","volume":"175 3 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-01-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"121123939","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}
引用次数: 0
West syndrome in patients with Kabuki syndrome (literature review and case report) 歌舞伎综合征患者的西部综合征(文献复习与病例报告)
Pub Date : 2022-01-31 DOI: 10.17650/2073-8803-2021-16-4-69-76
M. Zhitomirskaya, E. Snegova, G. Odintsova
М.Л. Житомирская1, 2, Е.В. Снегова1, Г.В. Одинцова3 1ГУЗ «Консультативно-диагностический центр для детей»; Россия, 192289 Санкт-Петербург, ул. Олеко Дундича, 36, корп. 2; 2ФГБОУ ВПО «Северо-Западный государственный медицинский университет им. И.И. Мечникова»; Россия, 191104 Санкт-Петербург, ул. Дундича, 36, корп. 2; 3Российский научно-исследовательский нейрохирургический институт им. проф. А.Л. Поленова – филиал ФГБУ «Национальный медицинский исследовательский центр им. В.А. Алмазова» Минздрава России; Россия, 191014 Санкт-Петербург, ул. Маяковского, 12
M.L. Zhitomirskaya1, 2, E.V. Snegova1, G.V. Odintsova3 1GUZ "儿童咨询诊断中心";俄罗斯,192289 St. Petersburg, 36, Oleko Dundicha St.3Russian Research Neurosurgical Institute named after Prof. A.L. Polenov - branch of the Federal State Budgetary Institution "National Medical Research Centre named after V.A. Almazov" of the Ministry of Health of Russia; Russia, 191014 St.
{"title":"West syndrome in patients with Kabuki syndrome (literature review and case report)","authors":"M. Zhitomirskaya, E. Snegova, G. Odintsova","doi":"10.17650/2073-8803-2021-16-4-69-76","DOIUrl":"https://doi.org/10.17650/2073-8803-2021-16-4-69-76","url":null,"abstract":"М.Л. Житомирская1, 2, Е.В. Снегова1, Г.В. Одинцова3 1ГУЗ «Консультативно-диагностический центр для детей»; Россия, 192289 Санкт-Петербург, ул. Олеко Дундича, 36, корп. 2; 2ФГБОУ ВПО «Северо-Западный государственный медицинский университет им. И.И. Мечникова»; Россия, 191104 Санкт-Петербург, ул. Дундича, 36, корп. 2; 3Российский научно-исследовательский нейрохирургический институт им. проф. А.Л. Поленова – филиал ФГБУ «Национальный медицинский исследовательский центр им. В.А. Алмазова» Минздрава России; Россия, 191014 Санкт-Петербург, ул. Маяковского, 12","PeriodicalId":196950,"journal":{"name":"Russian Journal of Child Neurology","volume":"36 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-01-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"131594978","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}
引用次数: 2
期刊
Russian Journal of Child Neurology
全部 Acc. Chem. Res. ACS Applied Bio Materials ACS Appl. Electron. Mater. ACS Appl. Energy Mater. ACS Appl. Mater. Interfaces ACS Appl. Nano Mater. ACS Appl. Polym. Mater. ACS BIOMATER-SCI ENG ACS Catal. ACS Cent. Sci. ACS Chem. Biol. ACS Chemical Health & Safety ACS Chem. Neurosci. ACS Comb. Sci. ACS Earth Space Chem. ACS Energy Lett. ACS Infect. Dis. ACS Macro Lett. ACS Mater. Lett. ACS Med. Chem. Lett. ACS Nano ACS Omega ACS Photonics ACS Sens. ACS Sustainable Chem. Eng. ACS Synth. Biol. Anal. Chem. BIOCHEMISTRY-US Bioconjugate Chem. BIOMACROMOLECULES Chem. Res. Toxicol. Chem. Rev. Chem. Mater. CRYST GROWTH DES ENERG FUEL Environ. Sci. Technol. Environ. Sci. Technol. Lett. Eur. J. Inorg. Chem. IND ENG CHEM RES Inorg. Chem. J. Agric. Food. Chem. J. Chem. Eng. Data J. Chem. Educ. J. Chem. Inf. Model. J. Chem. Theory Comput. J. Med. Chem. J. Nat. Prod. J PROTEOME RES J. Am. Chem. Soc. LANGMUIR MACROMOLECULES Mol. Pharmaceutics Nano Lett. Org. Lett. ORG PROCESS RES DEV ORGANOMETALLICS J. Org. Chem. J. Phys. Chem. J. Phys. Chem. A J. Phys. Chem. B J. Phys. Chem. C J. Phys. Chem. Lett. Analyst Anal. Methods Biomater. Sci. Catal. Sci. Technol. Chem. Commun. Chem. Soc. Rev. CHEM EDUC RES PRACT CRYSTENGCOMM Dalton Trans. Energy Environ. Sci. ENVIRON SCI-NANO ENVIRON SCI-PROC IMP ENVIRON SCI-WAT RES Faraday Discuss. Food Funct. Green Chem. Inorg. Chem. Front. Integr. Biol. J. Anal. At. Spectrom. J. Mater. Chem. A J. Mater. Chem. B J. Mater. Chem. C Lab Chip Mater. Chem. Front. Mater. Horiz. MEDCHEMCOMM Metallomics Mol. Biosyst. Mol. Syst. Des. Eng. Nanoscale Nanoscale Horiz. Nat. Prod. Rep. New J. Chem. Org. Biomol. Chem. Org. Chem. Front. PHOTOCH PHOTOBIO SCI PCCP Polym. Chem.
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
0
微信
客服QQ
Book学术公众号 扫码关注我们
反馈
×
意见反馈
请填写您的意见或建议
请填写您的手机或邮箱
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
现在去查看 取消
×
提示
确定
Book学术官方微信
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术
文献互助 智能选刊 最新文献 互助须知 联系我们:info@booksci.cn
Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。
Copyright © 2023 Book学术 All rights reserved.
ghs 京公网安备 11010802042870号 京ICP备2023020795号-1