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Clinical analysis of phase Ⅰ total corpus callosotomy in adults with intractable epilepsy

ObjectiveTo investigate the efficacy and safety of the phase Ⅰ corpus callosotomy in the treatment of adult refractory epilepsy. MethodsWe conducted a retrospective analysis of 56 adults with intractable epilepsy in Tangdu Hospital from January 2011 to July 2016.All patients were treated for the phase Ⅰ total corpus callosotomy, followed up 1~5 years after surgery. Results14 cases (25.0%) patients achieved complete seizure free after surgery, 19 cases (33.9%) whose seizures reduced more than 90%, 10 cases (17.9%) reduced between 50%~90%, 7 cases (12.5%) between 30%~50%, 6 cases (10.7%) decreased below 30%; Drop attacks of 47 cases (83.9%) patients disappeared. Postoperative complications occurred in 13 cases(23.2%), and most of them recovered well. 5 cases(8.9%) had long-term sensory disassociation, no serious complications and death. The percentage of patients reporting improvement in quality of life was 67.9%. ConclusionsFor patients with intractable epilepsy who can not undergo focal resection, Ⅰ phase total corpus callosotomy has a certain effect on reducing seizure frequency, eliminating drop attacks, and improving the quality of life.

Clinical electrophysiological features of cyclin-dependent kinase-like 5 gene induced developmental epileptic encephalopathy

ObjectiveTo investigate the clinical electrophysiological characteristics of Cyclin-dependent kinase-like 5 gene induced developmental epileptic encephalopathy (CDKL5-DEE). MethodsThe clinical data and series of video EEGs of children with CDKL5-associated developmental epileptic encephalopathy (CDKL5-DEE) who were admitted to the Children’s Medical Center of Peking University First Hospital from June 2016 to May 2024 were retrospectively analyzed. Results A total of 16 patients with CDKL5-DEE were enrolled, including 13 females and 3 males. All patients had de novo variants of CDKL5 gene, including 6 cases of missense variants, 5 cases of frameshift variants, 4 cases of nonsense variants, and 1 case of large fragment deletion. The age of onset was 8 days (d) after birth ~1 year (y) and 10 months (m), and the median age was (85.94±95.76) days. Types of seizures at onset: 4 cases of tonic seizures [age of onset 10~52 days, median age (25.5±15.84) days]; There were 5 cases of focal seizures [age of onset 8 d~8 m, median age (77.76±85.97) d]. There were 4 cases of epileptic spasmodic seizures [age of onset 3 m~1 y 10 m, median age (6.25±3.49) m]; There were 2 cases of bilateral tonic-clonic seizures [age of onset 30~40 days, median age (35.00±5.00) days]; focal concurrent epileptic spasm seizures 1 case (age of onset 2 m). A total of 59 VEEG sessions were performed in the pediatric EEG room of Peking University First Hospital for 4 hours. All the results were abnormal, including 26 normal background, 25 slow rhythm difference with background, and 8 no background. The interictal was 16 posterior or focal discharges, 19 multifocal discharges, 17 generalized or accompanied by focal/multifocal discharges, and 7 hypsarrhythmia; The ictal was 33 epileptic seizures, 6 myoclonic seizures, 5 focal seizures, 2 tonic-clonic seizures, 2 atypical absence seizures, 2 tonic seizures, 1 myoclonic sequential focal seizure, 1 focal sequential epileptic spasm, and 1 hypermotor-tonic-spasms. The background of patients within 6 months of age was normal, and the background abnormality increased significantly with age. generalized discharges are evident after 2 years of age between seizures. Conclusion CDKL5-DEE seizures have an early onset and are refractory to medications. Epileptic spasms are the most common type of seizure in every patient and long-lasting, with generalized seizures increasing markedly with age. EEG is characterized by a normal background within 6 months. With the increase of age, the background and interictal discharges have a tendency to deteriorate.

Clinical Application of 1.5T Magnetic Resonance Arterial Spin Labeling, Diffusion Weighted Imaging and Magnetic Resonance Aangiography in the Diagnosis of Ischemic Cerebrovascular Disease

目的　探讨磁共振扩散加权成像（DWI）、动脉自旋标记技术（ASL）、磁共振血管成像（MRA）联合应用在缺血性脑血管病诊断中的价值。 方法　对2010年3月－2012年5月经临床和影像学诊断的104例缺血性脑血管病患者，行常规MRI、液体衰减反转恢复序列、DWI及ASL、MRA序列检查，分析DWI、ASL、MRA多种技术显示病变的信号特征、面积大小及与血管关系。 结果　DWI对急性及亚急性脑梗死的检出率为100%，对大、小面积梗死病灶检出率无明显差异；ASL对大、小面积的急性及亚急性脑梗死的检出率有差异，对大面积梗死检出率为100%，对小面积梗死的检出率为70%；DWI和ASL对短暂性脑缺血发作的检出率分别为0%、70%，液体衰减反转恢复序列对短暂性脑缺血发作患者大脑皮层下斑状缺血灶检出最敏感。 结论　DWI和ASL均可用于急性脑梗死的早期诊断，ASL对大、小面积的急性及亚急性脑梗死的检出率有差异，DWI、ASL及MRA联合应用可准确评估缺血半暗区及侧支血管情况，在缺血性脑血管病诊断中有重要价值。

Paroxysmal Acquired Coagulopathy Caused by Anticoagulant Rodenticides: A Report of Three Cases and the Literature Review

目的　分析反复发作的抗凝血类灭鼠药所致获得性凝血功能障碍的临床特点，探讨其诊治方案。方法　对2009年3月－2010年12月收治的3例抗凝血类灭鼠药所致获得性凝血功能障碍患者的临床表现、实验室检查和治疗转归进行分析，并复习相关文献。 结果　3例患者均以同时出现多部位出血为首发表现，经应用维生素K1、凝血酶原复合物、新鲜冰冻血浆、冷沉淀等治疗，患者病情好转，实验室指标恢复正常。停药（2、5周，3个月）后再次出现多部位出血，再给予维生素K1等治疗，病情可缓解。 结论　维生素K1可作为首选的治疗药物，且对反复发作的患者同样有效。为避免再发性出血，应维持治疗至少3个月。

炎症、癫痫发作和癫痫发生：对人类疾病的探索

癫痫在历史上被认为是一种神经元信号异常传导的疾病，表现为癫痫发作。随着大量自身抗体的发现和对自身免疫性脑炎认识的不断加深，人们越来越重视先天性和适应性免疫系统在癫痫发作和癫痫发生中的作用。在不同的癫痫发作相关的神经炎症和自身免疫疾病中，不同程度观察到了致病性抗体、补体激活、CD8+细胞毒性T细胞和小胶质细胞激活。这些异常的免疫反应被认为会导致神经元信号传导破坏，产生急性症状性癫痫发作，并且在某些情况下，还会发展为长期的自身免疫性癫痫。虽然早期使用免疫调节疗法可以改善自身免疫性脑炎和自身免疫性癫痫的预后，但患者的识别和治疗方法的选择并不总是明确。本篇综述讨论了免疫系统的不同成分在各种形式的癫痫发作中的作用，包括自身免疫性脑炎、自身免疫性癫痫、Rasmussen脑炎、热性感染相关性癫痫综合征和新发难治性癫痫持续状态。尤其是讨论了在这些疾病中观察到的病理生理学和独特的细胞因子谱，及其与诊断、预后和治疗决策的联系。

Analysis on influencing factors of seizures and/or epilepsy in patients with acute herpes simplex virus encephalitis : from the perspective of the numbers of HSV sequences in the cerebrospinal fluid

ObjectiveExploring the influencing factors of acute phase (≤ 21 days) seizures and epilepsy in patients with Herpes simplex virus encephalitis (HSE) in our hospital, including emergency and inpatient wards, mainly from the perspective of the number of mNGS of Herpes simplex virus (HSV) in cerebrospinal fluid. MethodsFrom January to Octomber 2023, 28 emergency and inpatient patients in our hospital were collected, excepted clinical datas were not detailed. In the end, 24 patients with HSE diagnosed were included in the study, and their clinical datas were collected, including age, gender, acute encephalitis syndrome, the form of the seizure and the number of seizures, time of lumbar puncture, and various indicators of cerebrospinal fluid [pressure, protein, cell count (mononuclear and multinucleated cells), metagenomic Next-generation sequencing (mNGS), neural autoantibodied associated with autoimmune encephalitis], electroencephalogram, cranial imaging examination reports, and treatment plans.ResultsA total of 24 patients were enrolled, including 9 patients with a history of hypertension and 4 patients with a history of diabetes. There were 18 males and 6 females, with an average age of (53.17±17.19) years. The maximum age was 73 years old, and the minimum age was 21 years old. Among the 24 patients, one patient first presented to the local hospital and then transferred to our hospital for lumbar puncture, so the time from the onset of the disease to lumbar puncture was 30 days, and the other patient’s family members refused to complete lumbar puncture at first,so the time of lumbar puncture was 14 days from the onset of the disease. The remaining 22 patients were all completed lumbar puncture within 7 days of onset, and all emergency patients completed lumbar puncture within 24 hours of admission to the Emergency Department. mNGS results: 23 cases were HSV-1, and the remaining 1 case was HSV- 2. There were a total of 6 cases of seizures and epilepy in the acute phase (≤21 days), with focal or generalized seizures or epileptic status as the main form, and 2 cases of seizures occurred. Among these 8 patients, 5 showed lesions in the frontal and temporal lobes on enhanced cranial MRI, while the other 3 showed no specific features. At the same time, mNGS of cerebrospinal fluid suggested that the sequence number of HSV was greater than 3 000 was related with seizures and epilepsy with acute HSE. Conclusion Seizures and epileysy in acute HSE were related with the presences of intracranial cortical involvement,and the number of viral sequences in mNGS was closely related to acute phase seizures and epilepsy.

发作性运动诱发性运动障碍临床分析

目的提高对发作性运动诱发性运动障碍（PKD）疾病的认识。 方法对2011年1月－2013年12月收治的11例患者的临床资料进行回顾分析,总结PKD的临床特征和治疗方法。 结果11例患者经卡马西平、托吡酯等药物治疗，病情均得以控制。9例患者经半年至3年随访，5例能坚持每日正规按时服药，症状无发作或偶有发作且轻微；3例患者间断服药，症状时有发作，发作后服药最初剂量同样能控制症状；1例24岁患者服用近1年后未继续服药，症状未再发作或偶有发作先兆，但能自行控制症状。 结论PKD为一种少见的神经系统发作性疾病，应提高对该疾病的认识，注意同其他发作性疾病的鉴别，选择合适的抗癫痫药物治疗，一般预后良好。

癫痫、痫性发作与体育锻炼和运动：来自国际抗癫痫联盟运动与癫痫工作组的报告

由于过度担心、过分保护以及对运动带来的特定好处与风险的认识不足，我们通常建议癫痫患者不参加体育运动和锻炼。但有明确的证据显示体育锻炼和积极参加运动除了有益于身心健康，还能更好的控制癫痫发作。国际抗癫痫联盟（ILAE）运动与癫痫工作组拟通过发布本共识，为癫痫患者参加体育运动的一般指导和提出对参加不同风险的运动颁发健康证明的建议。根据痫性发作时，患者存在的潜在受伤或死亡风险将运动分成 3 类：① 第 1 类，不显著增加额外伤害风险的运动；② 第 2 类，对癫痫患者有中等风险但是对旁观者没有风险的运动；③ 第 3 类，对癫痫患者有高风险的运动；在建议某癫痫患者能否参加某项特定运动时要考虑的因素包括：运动的类型、癫痫发作的可能性、痫性发作的类型和严重性、痫性发作的诱发因素、痫性发作的频率和人们接受某种风险的态度。运动与癫痫工作组将此工作视为一项持续进行的研究，将在获得更新的数据时不断更新。

表现为局灶性癫痫发作的糖尿病合并脑脓肿一例

中低收入国家癫痫过早死亡：国际抗癫痫联盟死亡率专业组系统评价

为了确定中低收入国家（Low- and middle-income countries，LMICs）癫痫相关的危险因素大小与过早死亡原因，专业组对来自 LMICs（世界银行定义）的死亡率及癫痫相关文献报道进行系统检索，根据代表性，病例、诊断和死亡率的确证度对研究进行评估，并提取癫痫患者中的标准化死亡比（Standardized mortality ratios，SMR）和死亡率数据。研究调查了死亡的危险因素和原因。据估计，在高质量的群体研究中，癫痫患者年死亡率为 19.8/1 000（9.7/1 000～45.1/1 000），加权中位 SMR 为 2.6（1.3～7.2）。而临床队列研究显示的死亡率为 7.1/1 000（1.6/1 000～25.1/1 000），加权中位 SMR 在男性中为 5.0，女性中为 4.5。在儿童和青少年、症状性癫痫或治疗依从性低的患者中发现了相对较高的 SMR。群体研究显示，LMICs 癫痫患者死亡的主要原因中直接归因于癫痫的平均比例死亡比（Proportional mortality ratio，PMR）为 27.3%（5.0%～73.5%）。这些直接原因包括癫痫持续状态（报道的 PMR 为 5.0%～56.5%）和癫痫猝死（Sudden unexpected death in epilepsy，SUDEP）（报道的 PMR 为 1.0%～18.9%），与癫痫相关的间接死亡原因包括溺水、头部创伤和烧伤。LMICs 癫痫患者的早亡率明显高于高收入国家。在 LMICs，死亡率过高可能与患者难以获得医疗资源有关，例如发生癫痫持续状态时，以及包括溺水、头外伤和烧伤在内的可预防死因。这类过高的早亡率可以通过进行关于死亡风险的教育，提高治疗，包括抗癫痫药物治疗的可得性而大大降低。