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Principles and Practice of Neuropsychopharmacology 神经精神药理学原理与实践
Q4 PEDIATRICS Pub Date : 2023-06-19 DOI: 10.1055/s-0043-1770054
Carl E. Stafstrom
This compact volume is subtitled, “A Clinical Reference for Residents, Physicians, and Biomedical Scientists.” The book not only emphasizes treatment options for psychopharmacological disorders, but also includes succinct and informative coverage of neurotransmitters, pharmacokinetic principles, and the basics of pharmacodynamics. There are also individual chapters focusing on the treatment of neurological disorders such as headache, stroke, and attention-deficit hyperactivity disorder.
这个紧凑的卷的副标题,“为居民,医生和生物医学科学家的临床参考。”这本书不仅强调精神药理学障碍的治疗选择,而且还包括神经递质,药代动力学原理和药效学基础的简明和信息覆盖。也有个别章节侧重于治疗神经系统疾病,如头痛,中风,和注意力缺陷多动障碍。
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引用次数: 0
Principles and Practice of Neuropsychopharmacology 神经精神药理学原理与实践
IF 0.2 Q4 PEDIATRICS Pub Date : 2023-05-09 DOI: 10.1055/b000000565
C. Stafstrom
This compact volume is subtitled, “A Clinical Reference for Residents, Physicians, and Biomedical Scientists.” The book not only emphasizes treatment options for psychopharmacological disorders, but also includes succinct and informative coverage of neurotransmitters, pharmacokinetic principles, and the basics of pharmacodynamics. There are also individual chapters focusing on the treatment of neurological disorders such as headache, stroke, and attentiondeficit hyperactivity disorder. Of most interest to readers of this journal, the authors provide a chapter on antiseizure medications (ASMs). Aside from their use of long-expired nomenclature and seizure/epilepsy classification, the chapter on ASMs is presented at a very basic (i.e., simple) level, approximating the complexity of a beginning medical student. To the authors’ credit, in this 27-page chapter, they attempt to cover ASM mechanisms, types of seizures, and clinical summaries of five “older” ASMs and eight “newer” ASMs. Omitted for both brevity and simplicity are all of the ASMs that have been approved in the past 5 to 10 years. There is brief mention of ASMusage in pregnancy, status epilepticus, and different age populations. For any depth or detail, other references will need to be consulted. Overall, the chapter is poorly written and contains many statements that are not only erroneous but also dangerous. Among these are the assertion that phenobarbital is “commonly used in children as an antiepileptic,” that phenobarbital is “the drug of choice for epilepsy in pregnancy,” and that “once started, antiepileptic agents need to be given for a period of at least 3 years.” From the mechanism perspective, the well-established sodium channel blocker oxcarbazepine is listed as affecting potassium channels (in reality this effect is minimal if at all). There are other misconceptions as well, intermixed with numerous misspellings and grammatical errors. The figures are redundant and the text often proceeds in an illogical manner. It is unlikely that an epileptologist willfind this chapter on ASMs of much novelty or practical use, yet medical students and perhaps residents find some insights, assuming they can separate the truth from errors! On the other hand, epileptologists could well benefit from the authors’ review of other disease-related drug categories entailing medications we do not usually prescribe as they are typically prescribed by other specialists (e.g., antidepressants, antipsychotics, etc.).
这个紧凑的卷的副标题,“为居民,医生和生物医学科学家的临床参考。”这本书不仅强调精神药理学障碍的治疗选择,而且还包括神经递质,药代动力学原理和药效学基础的简明和信息覆盖。也有个别章节侧重于治疗神经系统疾病,如头痛,中风,和注意力缺陷多动障碍。这本杂志的读者最感兴趣的是,作者提供了一章关于抗癫痫药物(asm)。除了使用早已过时的术语和癫痫/癫痫分类外,关于asm的章节是在一个非常基本(即简单)的水平上呈现的,近似于初学医学生的复杂性。值得作者称赞的是,在这27页的章节中,他们试图涵盖ASM的机制、癫痫类型,以及5个“旧”ASM和8个“新”ASM的临床总结。为了简洁性和简单性,省略了过去5到10年批准的所有asm。简要地提到ASMusage在妊娠、癫痫持续状态和不同年龄人群中的作用。对于任何深度或细节,将需要咨询其他参考资料。总的来说,这一章写得很糟糕,包含了许多不仅错误而且危险的陈述。其中包括:苯巴比妥是“儿童常用的抗癫痫药物”,苯巴比妥是“妊娠期癫痫的首选药物”,“一旦开始服用,抗癫痫药物需要至少服用3年”。从机制的角度来看,公认的钠通道阻滞剂奥卡西平被列为影响钾通道的药物(实际上这种影响很小,如果有的话)。还有其他误解,夹杂着许多拼写错误和语法错误。这些数字都是多余的,而且文章常常以一种不合逻辑的方式进行。癫痫病医生不太可能发现这一章关于asm的内容有什么新奇或实际用途,但医科学生和住院医生可能会发现一些见解,假设他们能区分真相和错误!另一方面,癫痫病医生可以从作者对其他疾病相关药物类别的回顾中获益,这些药物涉及我们通常不开的药物,因为它们通常是由其他专家开的(例如,抗抑郁药,抗精神病药等)。
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引用次数: 0
A Novel Neuroimaging Phenotype in the Pediatric Paroxysmal Kinesigenic Dyskinesia 小儿阵发性运动障碍的一种新的神经影像学表型
IF 0.2 Q4 PEDIATRICS Pub Date : 2023-05-06 DOI: 10.1055/s-0043-1771518
Rahul Sinha, Bharat Hosur, Sonali Singh, Gautam Kamila, A. Meena
Abstract Paroxysmal kinesigenic dyskinesia (PKD) is a rare disorder characterized by recurrent attacks of hyperkinetic movements which can be isolated or associated with benign infantile seizures as part of the infantile convulsions with choreoathetosis syndrome. We present a case of hyperkinetic movement disorder in the form of choreoathetosis, ballismus, dystonia triggered by sudden movements with a past history of benign infantile convulsions in a 12-year-old girl. The contrast-enhanced brain and spine magnetic resonance imaging showed bilaterally symmetric superior cerebellar cytotoxic edema sparing the vermis with swollen cerebellar foliae. Whole-exome sequencing identified a homozygous frameshift duplication NM_145239.3(PRRT2):c.649dupC(p.Arg217Profs*8) in the PRRT2 gene. This case report highlights the frameshift duplication in the PRRT2 gene and rare neuroimaging findings which further expand the phenotypic characteristics of PKD in children.
摘要:阵发性动态性运动障碍(PKD)是一种罕见的疾病,其特征是反复发作的多动性运动,可单独或与良性婴儿癫痫发作相关,作为舞蹈病综合征婴儿惊厥的一部分。我们报告一例12岁女孩的多动性运动障碍,表现为舞蹈症、球性震颤、肌张力障碍,由突然运动引发,既往有良性婴儿惊厥病史。脑和脊柱磁共振增强成像显示双侧对称的小脑上细胞毒性水肿,保留了小脑叶肿胀的蚓部。全外显子组测序鉴定出PRRT2基因的纯合子移码重复NM_145239.3(PRRT2):c.649dupC(p.Arg217Profs*8)。本病例报告强调了PRRT2基因的移码复制和罕见的神经影像学发现,进一步扩大了儿童PKD的表型特征。
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引用次数: 0
Use of Bibliotherapy in Patients with Epilepsy 阅读疗法在癫痫患者中的应用
IF 0.2 Q4 PEDIATRICS Pub Date : 2023-03-28 DOI: 10.1055/s-0043-1767735
H. Çaksen
Biblio is a combining form occurring in loanwords from Greek (bibliography). On this model, biblio is used in the formation of compound words with the meaning “book” (bibliophile), and sometimes with the meaning “Bible” (bibliolatry, on the model of idolatry).1 Bibliotherapy (also referred to as book therapy or reading therapy) uses reading materials to help solve personal problems or for psychiatric therapy. It is guidance in the solution of personal problems through directed reading.2 Bibliotherapy, as an adjunct to treating medical and psychological problems, has a long history in the library science literature.3 Bibliotherapy may benefit patients with problems of living such as dealing with life crises and transitions, parents, and children, parenting, coping with illness and disability, death and dying, lifestyle modification, sexuality, and coping with feelings.3 However, most physicians do not know bibliotherapy, and it is rarely used in clinical practices. Epilepsy is a disease characterized by an enduring predisposition to generate epileptic seizures and by the neurobiological, cognitive, psychological, and social consequences of this condition.4 Herein, we discussed the use of bibliotherapy in patients with epilepsy to attract attention to the importance of bibliotherapy in clinical practice. Using books to improve mental well-being and facilitate health promotion are concepts that have long been recognized in librarianship.5 Sadie Peterson Delaney (1889–1958) was the chief librarian of the Veterans Administration Hospital and a pioneer in her work with bibliotherapy.6 She defined bibliotherapy as, “the treatment of patients through selected reading.” Delaney’s most significant accomplishmentwas in the techniques she developed and experimented with in using library materials and activities to rehabilitate hospital patients, especially mental patients.7 Sadie Delaney conferred with doctors and psychiatrists to learn the backgrounds and problems of patients. Then based on this information, she visited patients on wards with the book cart to interest them in reading and to tell them about the special groups and clubs that met in the library.7 Several reasons have been noted for using bibliotherapy: improvingan individual’s self-awareness andself-understanding and increasing understanding and empathy for others. Bibliotherapy can also help relieve stress, provide successful coping strategies, and help an individual to be able to express both feelingsand ideasaboutaproblemordifficulty.8Whether the texts are fiction, aiming to promote relaxation and enjoyment, ornonfictionself-helpbooks, providing informationand insight to patients with long-term conditions such as depression, diabetes, or epilepsy, the social value of texts is widely appreciated.5 Pawlowska-Jaron9 also noted that bibliotherapy might be used in patients with epilepsy. Neuropsychiatric comorbidities, including depression, anxiety, psychosis, cognitive impairment, autism, and p
Biblio是希腊语外来词的合成词。在这种模式下,biblio被用来构成复合词,意思是“书”(藏书者),有时也有“圣经”的意思(bibliolatry,在偶像崇拜的模式下)阅读疗法(也称为书籍疗法或阅读疗法)使用阅读材料来帮助解决个人问题或用于精神治疗。它是通过定向阅读来解决个人问题的指导阅读疗法作为治疗医学和心理问题的辅助手段,在图书馆学文献中有着悠久的历史阅读疗法可以使有生活问题的病人受益,如处理生活危机和转变、父母和孩子、养育子女、应对疾病和残疾、死亡和临终、改变生活方式、性行为和处理感情然而,大多数医生并不了解阅读疗法,并且很少在临床实践中使用。癫痫是一种以产生癫痫发作的持久易感性以及由此产生的神经生物学、认知、心理和社会后果为特征的疾病在此,我们讨论了阅读疗法在癫痫患者中的应用,以引起人们对阅读疗法在临床实践中的重要性的关注。利用书籍来改善心理健康和促进健康是图书馆界长期以来公认的概念萨迪·彼得森·德莱尼(1889-1958)是退伍军人管理医院的首席图书管理员,也是图书疗法的先驱她将阅读疗法定义为“通过选择性阅读对患者进行治疗”。德莱尼最重要的成就是她开发和试验了利用图书馆资料和活动来康复医院病人,特别是精神病人的技术赛迪·德莱尼与医生和精神科医生交流,了解病人的背景和问题。然后根据这些信息,她推着书车去探访病房里的病人,使他们对阅读产生兴趣,并告诉他们在图书馆里聚会的特殊团体和俱乐部人们注意到使用阅读疗法的几个原因:提高个人的自我意识和自我理解,增加对他人的理解和同情。阅读疗法也可以帮助缓解压力,提供成功的应对策略,并帮助个人能够表达对问题或困难的感受和想法。无论文本是小说,旨在促进放松和享受,还是非小说类自助书籍,为抑郁症、糖尿病或癫痫等长期疾病患者提供信息和见解,文本的社会价值都受到广泛赞赏Pawlowska-Jaron9还指出,阅读疗法可能用于癫痫患者。神经精神合并症,包括抑郁、焦虑、精神病、认知障碍、自闭症和心因性非癫痫性发作,在癫痫患者中很常见,但诊断不足,影响临床结果。生物、心理和社会因素导致癫痫与神经精神合并症的关联,并且有证据表明存在共同的潜在病理生理最近,Mendel等人注意到阅读疗法可能对帮助患有注意力缺陷多动障碍的儿童有用;焦虑和完美主义;界限、性虐待和不适当的接触;情绪、行为、愤怒和自我控制;父母有精神疾病的;强迫症;还有创伤,家庭暴力和家庭暴力。孟德尔等人还建立了一个数据库,为儿童推荐一些有关这些主题的合适而有价值的书籍。该数据库可在http://www上找到。marisamendelmd.com/books。我们注意到,许多医生建议读一本书,书名为《给病人的信息》
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引用次数: 0
The Contribution of Argentine Neurologists to the Description of Infantile Epileptic Spasms Syndrome and Related Epileptic and Nonepileptic Neurological Conditions 阿根廷神经病学家对婴儿癫痫痉挛综合征和相关癫痫性和非癫痫性神经系统疾病描述的贡献
IF 0.2 Q4 PEDIATRICS Pub Date : 2023-03-28 DOI: 10.1055/s-0043-1771342
A. Espeche, G. Valenzuela, R. Caraballo
Abstract In the latest report of the International League against Epilepsy Task Force on Nosology and Definitions on the methodology for classification of epilepsy syndromes, the term infantile epileptic spasms syndrome (IESS) was chosen for what were previously called infantile spasms, including West syndrome and infantile epileptic spasms without hypsarrhythmia. Different Argentine groups have contributed to the description of IESS and related epileptic and nonepileptic syndromes. Here we aimed to review studies by different Argentine authors that contributed to the development of the definitions of IESS and its most important benign differential diagnosis. In 1949, Vazquez and Turner from Argentina first recognized a clinical-electroencephalographic correlate of the entity described by Dr. West defining the triad of epileptic spasms, diffuse paroxysmal cerebral dysrhythmia, and psychomotor impairment. Subsequently, in 1976 Fejerman first reported 10 neurologically normal infants with recurrent spells that resembled epileptic spasms. As neurological status, electroencephalogram (EEG), and outcomes were normal, these infants were clearly different from those with West syndrome or epileptic spasms without hypsarrhythmia. Since 2003, Caraballo et al have published different series of patients with epileptic spasms in clusters without hypsarrhythmia occurring in infancy. Before the onset of the epileptic spasms in clusters, these infants were often normal and they had focal or generalized EEG abnormalities. Publication in local journals in languages other than English may lead to the loss of important data found by colleagues from different geographic areas. Therefore, this should be followed by publication in English in peer-reviewed journals.
在国际抗癫痫联盟疾病分类和定义工作组关于癫痫综合征分类方法的最新报告中,婴儿癫痫性痉挛综合征(IESS)一词被选择用于以前称为婴儿痉挛的疾病,包括韦斯特综合征和无低心律失常的婴儿癫痫性痉挛。阿根廷不同的小组对IESS和相关的癫痫和非癫痫综合征的描述作出了贡献。在这里,我们旨在回顾不同阿根廷作者的研究,这些研究对IESS的定义及其最重要的良性鉴别诊断的发展做出了贡献。1949年,阿根廷的巴斯克斯和特纳首次发现了韦斯特博士所描述的癫痫痉挛、弥漫性阵发性脑节律障碍和精神运动障碍三位一体的临床-脑电图相关性。随后,在1976年,Fejerman首次报道了10例神经系统正常的婴儿反复出现类似癫痫痉挛的症状。由于神经系统状态,脑电图(EEG)和结果正常,这些婴儿明显不同于那些有西氏综合征或癫痫性痉挛而无低心律失常的婴儿。自2003年以来,Caraballo等人发表了不同系列的癫痫性痉挛患者,这些患者在婴儿期没有发生过心律失常。在癫痫性痉挛发作之前,这些婴儿通常是正常的,他们有局灶性或全身性脑电图异常。以英语以外的语言在当地期刊上发表可能会导致来自不同地理区域的同事发现的重要数据丢失。因此,接下来应该用英文在同行评议的期刊上发表。
{"title":"The Contribution of Argentine Neurologists to the Description of Infantile Epileptic Spasms Syndrome and Related Epileptic and Nonepileptic Neurological Conditions","authors":"A. Espeche, G. Valenzuela, R. Caraballo","doi":"10.1055/s-0043-1771342","DOIUrl":"https://doi.org/10.1055/s-0043-1771342","url":null,"abstract":"Abstract In the latest report of the International League against Epilepsy Task Force on Nosology and Definitions on the methodology for classification of epilepsy syndromes, the term infantile epileptic spasms syndrome (IESS) was chosen for what were previously called infantile spasms, including West syndrome and infantile epileptic spasms without hypsarrhythmia. Different Argentine groups have contributed to the description of IESS and related epileptic and nonepileptic syndromes. Here we aimed to review studies by different Argentine authors that contributed to the development of the definitions of IESS and its most important benign differential diagnosis. In 1949, Vazquez and Turner from Argentina first recognized a clinical-electroencephalographic correlate of the entity described by Dr. West defining the triad of epileptic spasms, diffuse paroxysmal cerebral dysrhythmia, and psychomotor impairment. Subsequently, in 1976 Fejerman first reported 10 neurologically normal infants with recurrent spells that resembled epileptic spasms. As neurological status, electroencephalogram (EEG), and outcomes were normal, these infants were clearly different from those with West syndrome or epileptic spasms without hypsarrhythmia. Since 2003, Caraballo et al have published different series of patients with epileptic spasms in clusters without hypsarrhythmia occurring in infancy. Before the onset of the epileptic spasms in clusters, these infants were often normal and they had focal or generalized EEG abnormalities. Publication in local journals in languages other than English may lead to the loss of important data found by colleagues from different geographic areas. Therefore, this should be followed by publication in English in peer-reviewed journals.","PeriodicalId":42559,"journal":{"name":"Journal of Pediatric Epilepsy","volume":"35 1","pages":""},"PeriodicalIF":0.2,"publicationDate":"2023-03-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"73386075","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
Self-limited Familial Neonatal Epilepsy due to the c.1589G > A Novel Pathogenic Variant in KCNQ2 : A Family Report c.1589G >一种新的KCNQ2致病变异所致的自限性家族性新生儿癫痫:一份家族报告
IF 0.2 Q4 PEDIATRICS Pub Date : 2023-03-23 DOI: 10.1055/s-0043-1770794
Gunce Basarir, Ozge Ozer Kaya, Fatma Kusgoz, Nihal Olgac Dundar, P. Gençpınar
Abstract Self-limited familial neonatal epilepsy is an autosomal dominant epileptic syndrome characterized by episodes of seizures occurring in the first days of life. Most patients have heterozygous mutations of KCNQ2 gene located on 20q13. A variety of clinical phenotypes have been associated with KCNQ2 mutations, making the prediction of this rare entity difficult. Herein, we report a rare KCNQ2 variant in two siblings with self-limited familial neonatal epilepsy. The siblings had tonic seizures accompanied by clonic jerks in the first few days after birth. Genetic analysis of the siblings revealed a heterozygous KCNQ2 variant: c.1589G > A; (p.Ser530Asn). The identical variant subsequently was identified in the mother. To our knowledge, this variant has not been previously reported in individuals with KCNQ2 -related disease. This is the first report that reveals c.1589G > A variant of KCNQ2 gene as a pathogenic variant in two siblings.
自限性家族性新生儿癫痫是一种常染色体显性癫痫综合征,其特征是在出生后的头几天发生癫痫发作。大多数患者存在位于20q13的KCNQ2基因杂合突变。多种临床表型与KCNQ2突变相关,这使得预测这种罕见的实体变得困难。在此,我们报告了两个患有自限性家族性新生儿癫痫的兄弟姐妹中罕见的KCNQ2变异。这对兄弟姐妹在出生后的最初几天出现强直性癫痫发作并伴有阵挛性抽搐。兄弟姐妹遗传分析显示一个杂合的KCNQ2变异:c.1589G > a;(p.Ser530Asn)。随后在母亲身上发现了相同的变异。据我们所知,这种变异在KCNQ2相关疾病患者中尚未报道。这是首次报道在两个兄弟姐妹中发现c.1589G > A变异的KCNQ2基因是致病变异。
{"title":"Self-limited Familial Neonatal Epilepsy due to the c.1589G > A Novel Pathogenic Variant in KCNQ2 : A Family Report","authors":"Gunce Basarir, Ozge Ozer Kaya, Fatma Kusgoz, Nihal Olgac Dundar, P. Gençpınar","doi":"10.1055/s-0043-1770794","DOIUrl":"https://doi.org/10.1055/s-0043-1770794","url":null,"abstract":"Abstract Self-limited familial neonatal epilepsy is an autosomal dominant epileptic syndrome characterized by episodes of seizures occurring in the first days of life. Most patients have heterozygous mutations of KCNQ2 gene located on 20q13. A variety of clinical phenotypes have been associated with KCNQ2 mutations, making the prediction of this rare entity difficult. Herein, we report a rare KCNQ2 variant in two siblings with self-limited familial neonatal epilepsy. The siblings had tonic seizures accompanied by clonic jerks in the first few days after birth. Genetic analysis of the siblings revealed a heterozygous KCNQ2 variant: c.1589G > A; (p.Ser530Asn). The identical variant subsequently was identified in the mother. To our knowledge, this variant has not been previously reported in individuals with KCNQ2 -related disease. This is the first report that reveals c.1589G > A variant of KCNQ2 gene as a pathogenic variant in two siblings.","PeriodicalId":42559,"journal":{"name":"Journal of Pediatric Epilepsy","volume":"165 1","pages":""},"PeriodicalIF":0.2,"publicationDate":"2023-03-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"80396852","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
Relationship Between Multiple Sclerosis and Spiritual Distress 多发性硬化症与精神痛苦的关系
IF 0.2 Q4 PEDIATRICS Pub Date : 2023-03-10 DOI: 10.1055/s-0043-1764149
H. Çaksen
Multiple sclerosis
多发性硬化症
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引用次数: 0
SYNGAP1 Encephalopathy Presenting with a Phenotype of Epilepsy with Eyelid Myoclonia (Jeavons Syndrome) SYNGAP1脑病表现为癫痫伴眼睑肌阵挛(Jeavons综合征)的表型
IF 0.2 Q4 PEDIATRICS Pub Date : 2023-03-03 DOI: 10.1055/s-0043-1762908
Wadih Baajour, Deepa Sirsi
A 10-year-oldgirlwas evaluated for developmental delayand constipation at age 15 months and was subsequently diagnosed with intellectual disability and autism spectrum dis-order at 2 years. There was no family history of epilepsy or cognitive impairment. She had signi fi cant self-injurious behavior and aggression. Magnetic resonance imaging at age 18 months was normal. At age of 4 years, she had seizure onset with multiple daily episodesofstaringandeye fl utter.Electroencephalogram(EEG) showed eye closure induced generalized spike and wave dis-charges with associated eyelid myoclonia ( ► Video 1 ), absence seizures,andphotoparoxysmalresponse, fi ndingssuggestiveof Epilepsy with Eyelid Myoclonia (EEM). 2 Interictal EEG also showed bi-occipital spikes which could represent fragments of generalized spikes. Antiseizure medications tried included levetiracetam, topiramate, valproic acid, ethosuximide, and cannabidiol. Seizures persisted but there was a reduction of seizures with cannabidiol and ethosuximide. She was treated with clonidine and sertraline for aggression and self-injurious behavior.
一名10岁女孩在15个月大时被评估为发育迟缓和便秘,随后在2岁时被诊断为智力障碍和自闭症谱系障碍。没有癫痫或认知障碍的家族史。她有明显的自残行为和攻击性。18个月时磁共振成像正常。4岁时,患者癫痫发作,每日多次出现凝视和眼球震颤,脑电图显示闭眼引起的全身性峰状放电和波状放电,并伴有眼睑肌阵挛(►视频1)、失神性发作和光性发作小反应,提示癫痫合并眼睑肌阵挛(EEM)。2间期脑电图也显示双枕尖峰,可能代表广义尖峰的片段。抗癫痫药物包括左乙拉西坦、托吡酯、丙戊酸、乙砜胺和大麻二酚。癫痫发作持续存在,但大麻二酚和乙砜胺减少了癫痫发作。她因攻击性和自残行为接受了可乐定和舍曲林治疗。
{"title":"SYNGAP1 Encephalopathy Presenting with a Phenotype of Epilepsy with Eyelid Myoclonia (Jeavons Syndrome)","authors":"Wadih Baajour, Deepa Sirsi","doi":"10.1055/s-0043-1762908","DOIUrl":"https://doi.org/10.1055/s-0043-1762908","url":null,"abstract":"A 10-year-oldgirlwas evaluated for developmental delayand constipation at age 15 months and was subsequently diagnosed with intellectual disability and autism spectrum dis-order at 2 years. There was no family history of epilepsy or cognitive impairment. She had signi fi cant self-injurious behavior and aggression. Magnetic resonance imaging at age 18 months was normal. At age of 4 years, she had seizure onset with multiple daily episodesofstaringandeye fl utter.Electroencephalogram(EEG) showed eye closure induced generalized spike and wave dis-charges with associated eyelid myoclonia ( ► Video 1 ), absence seizures,andphotoparoxysmalresponse, fi ndingssuggestiveof Epilepsy with Eyelid Myoclonia (EEM). 2 Interictal EEG also showed bi-occipital spikes which could represent fragments of generalized spikes. Antiseizure medications tried included levetiracetam, topiramate, valproic acid, ethosuximide, and cannabidiol. Seizures persisted but there was a reduction of seizures with cannabidiol and ethosuximide. She was treated with clonidine and sertraline for aggression and self-injurious behavior.","PeriodicalId":42559,"journal":{"name":"Journal of Pediatric Epilepsy","volume":"11 1","pages":"115 - 115"},"PeriodicalIF":0.2,"publicationDate":"2023-03-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"88612243","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
Safety and Tolerability of COVID-19 Vaccination in Adolescents and Young Adults with Epilepsy: A Multicenter Questionnaire Study 青少年和年轻癫痫患者接种COVID-19疫苗的安全性和耐受性:一项多中心问卷研究
IF 0.2 Q4 PEDIATRICS Pub Date : 2023-03-01 DOI: 10.1055/s-0043-1770363
Yoshiyuki Kobayashi, N. Ishikawa, Yuichi Tateishi, Hiroki Izumo, Yuta Eguchi, Y. Fujii, H. Ono, S. Okada
Abstract Background  Coronavirus disease 2019 (COVID-19) is caused by severe acute respiratory syndrome coronavirus 2 and was first recorded in December 2019. COVID-19 became a pandemic involving almost all countries, including Japan. We evaluated the tolerability and safety of coronavirus vaccines in terms of seizures in adolescents and young adults with epilepsy (AYAWE). Methods  We administered a questionnaire to AYAWE who visited the pediatrics departments of Hiroshima University Hospital, Hiroshima Prefectural Hospital, and Hiroshima City Funairi Citizens Hospital in January and February 2022. Tolerability and safety after immunization were assessed. Results  In total, 114 vaccinations were delivered to 57 AYAWE aged 12 to 25 years (mean, 15 ± 3.1 years). Fifty-two (91.2%) experienced more than or equal to 1 adverse event postvaccination. The most commonly reported adverse events were fever (dose 1, 33.3%; dose 2, 73.7%) and fatigue (dose 1, 24.6%; dose 2, 50.9%). The incidences of headache (5.2 vs. 21.0%, p  = 0.024), fever (33.3 vs. 73.7%, p  < 0.001), and fatigue (24.6 vs. 50.9%, p  = 0.004) differed significantly between the first and second doses. Only 5.2% of patients experienced transient seizure worsening, and only one patient reported a change in seizure semiology. Conclusion  COVID-19 vaccines were well-tolerated in our cohort. The vaccines did not affect the number or manifestations of seizures. Similar to other illnesses, vaccination for COVID-19 can be administered to AYAWE without worsening their seizures.
背景2019冠状病毒病(COVID-19)是由严重急性呼吸综合征冠状病毒2型引起的新型冠状病毒,于2019年12月首次记录。COVID-19成为包括日本在内的几乎所有国家的大流行。我们评估了冠状病毒疫苗在青少年和年轻癫痫患者(AYAWE)癫痫发作方面的耐受性和安全性。方法对于2022年1月和2月访问广岛大学医院、广岛市立医院和广岛市船井市民医院儿科的AYAWE进行问卷调查。评估免疫后的耐受性和安全性。结果共为57例12 ~ 25岁的AYAWE(平均15±3.1岁)接种了114次疫苗。52例(91.2%)在接种疫苗后发生了1次以上或等于1次的不良事件。最常见的不良反应是发热(剂量1,33.3%;剂量2,73.7%)和疲劳(剂量1,24.6%;剂量2,50.9%)。头痛(5.2 vs. 21.0%, p = 0.024)、发热(33.3 vs. 73.7%, p < 0.001)和疲劳(24.6 vs. 50.9%, p = 0.004)的发生率在第一次和第二次剂量之间有显著差异。只有5.2%的患者经历了短暂性癫痫发作恶化,只有1例患者报告了癫痫发作符号学的改变。结论COVID-19疫苗在我们的队列中耐受性良好。疫苗对癫痫发作的次数和表现没有影响。与其他疾病类似,AYAWE患者可以接种COVID-19疫苗,而不会加重癫痫发作。
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引用次数: 0
Neonatal Status Epilepticus Secondary to Nonketotic Hyperglycinemia: Efficacy of Low-Dose Dextromethorphan 继发于非酮症性高血糖症的新生儿癫痫持续状态:低剂量右美沙芬的疗效
IF 0.2 Q4 PEDIATRICS Pub Date : 2023-03-01 DOI: 10.1055/s-0043-1770052
S. Vila-Bedmar, Maite La-Vega Talbott
Abstract Nonketotic hyperglycinemia is a severe form of early onset epileptic encephalopathy caused by disturbances in the glycine cleavage system, leading to neurological damage attributed to overstimulation of the N-methyl-D-aspartate receptor. Although there are no interventions known to be effective in altering the natural history of nonketotic hyperglycinemia, it is very important that the clinician recognizes this disease and initiates early evaluation and treatment to attain the best possible outcome. Here we present a newborn diagnosed with a severe form of nonketotic hyperglycinemia with frequent myoclonic seizures, which were resistant to phenobarbital, levetiracetam, ketogenic diet, sodium benzoate, and perampanel. Dextromethorphan reduced epileptic myoclonic jerks and improved the background activity on the electroencephalogram.
非酮症型高甘氨酸血症是由甘氨酸裂解系统紊乱引起的一种严重的早发性癫痫性脑病,由于n -甲基- d -天冬氨酸受体的过度刺激而导致神经损伤。虽然目前还没有干预措施可以有效地改变非酮症高血糖症的自然史,但临床医生认识到这种疾病并开始早期评估和治疗以获得最佳可能的结果是非常重要的。在这里,我们提出了一个新生儿诊断为严重形式的非酮症高血糖症,频繁的肌阵挛性发作,这是耐苯巴比妥,左乙曲坦,生酮饮食,苯甲酸钠,和perampanel。右美沙芬减少癫痫性肌阵挛性抽搐,改善脑电图背景活动。
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引用次数: 0
期刊
Journal of Pediatric Epilepsy
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