熊磊教授基于“脾为痰源”辨治儿童癫痫临证思路探赜

熊磊教授以理脾为本，将治痰贯穿始终。根据小儿脾常不足、肾常虚、肝常有余的生理特点，癫痫发作期治疗主以涤痰开窍，辅以理气健脾，同时配合活血化瘀通窍与平肝息风潜阳。主要选方为柴芍温胆汤、天麻钩藤饮、桃红四物汤加减；缓解期则以补肾养肝为主，兼以健脾化痰，主要选方为杞菊地黄丸合定痫丸加减，取得较好临床疗效。     

Spike‐associated networks and intracranial electrographic findings

Aims. Functional connectivity is providing new insights into the network nature of epilepsy with growing clinical applications. Our objective was to validate a novel magnetoencephalography‐based method to non‐invasively measure the epileptic network. Methods. We retrospectively identified pediatric and adult patients with refractory focal epilepsy who underwent pre‐surgical magnetoencephalography with subsequent intracranial electrographic monitoring. Magnetoencephalography tracings were visually reviewed, and interictal epileptiform discharges (“spikes”) were individually marked. We then evaluated differences in whole‐brain connectivity during brief epochs preceding the spikes and during the spikes using the Network‐Based Statistic to test differences at the network level. Results. In six patients with statistically‐significant network differences, we observed substantial overlap between the spike‐associated networks and electrographically active areas identified during intracranial monitoring (the spike‐associated network was 78% and 83% sensitive for intracranial electroencephalography‐defined regions in the irritative and seizure onset zones, respectively). Conclusion. These findings support the neurobiological validity of the spike‐associated network method. Assessment of spike‐associated networks has the potential to improve surgical planning in epilepsy surgery patients by identifying components of the epileptic network prior to implantation.     

POLG 基因变异致线粒体病一家系分析

目的分析POLG基因变异致线粒体病的临床表型及基因变异。方法回顾分析于2019年5月就诊,并经采集外周血DNA进行医学外显子、外显子-内含子交界区靶向二代测序和一代验证,1个确诊为POLG基因变异致线粒体病家系的临床资料。结果先证者,男,10岁,与其同卵双胎哥哥均有相同的体征,深感觉受损、腱反射消失、肌肉可疑萎缩。先证者3个兄姐先后于1岁多夭折。提取患儿及其父母的外周血,先证者及同卵双胎哥哥POLG基因均存在G.2558A(p.R853Q)、c.2890T(p.R964C)复合杂合变异,分别来源于患儿父母亲。结论 POLG基因复合杂合变异线粒体病家系成员有不同的表型;POLG相关疾病,即使同种基因变异,其临床异质性也较大。     

中西医结合治疗癫痫伴抑郁Meta分析

目的:系统评价中西医结合治疗癫痫伴抑郁患者的临床疗效。方法:计算机检索中国知网、万方数据库、中国医学生物文献数据库、维普资讯、PubMed及Web of Science等中英文数据库,筛选出自各数据库建库以来至2018年7月关于中西医结合治疗癫痫伴抑郁的临床随机对照试验(randomized controlled trial,RCT)研究,根据系统评价标准依次进行文献质量评价和Meta分析。结果:纳入14个研究,共1183例患者。Meta分析结果显示:中西医结合治疗癫痫伴抑郁在降低HAMD评分、提高QLOIE-31评分方面优于单纯西药治疗。癫痫发作频次改善率效应值合并量OR=3.53,95%CI(1.73,7.17),Z=3.48(P=0.0005),差异有统计学意义(P<0.05)。临床安全性效应值合并量OR=0.59,95%CI(0.35,0.98),Z=2.03(P=0.04),差异有统计学意义(P<0.05)。结论:中西医结合足疗程治疗癫痫伴抑郁临床疗效优于单纯西药治疗,且临床安全性良好,但因纳入研究数量和质量有限,上述结论尚待高质量的RCT研究验证。     

卡马西平与左乙拉西坦治疗成人癫痫的效果及对认知功能和骨密度的影响分析

目的探究卡马西平与左乙拉西坦治疗成人癫痫的效果及对认知功能、骨密度的影响。方法92例成人癫痫患者作为研究对象,随机分为左乙拉西坦组与卡马西平组,各46例。左乙拉西坦组采用左乙拉西坦治疗,卡马西平组采用卡马西平治疗。比较两组患者治疗前及治疗6个月后认知功能[语言智商(VIQ)、操作智商(PIQ)、总智商(FIQ)]评分、骨密度(腰椎、股骨大转子、股骨颈)变化情况。结果治疗6个月后,两组患者VIQ、PIQ、FIQ评分均较治疗前显著提升,且左乙拉西坦组患者VIQ评分(101.2±3.1)分、PIQ评分(108.1±2.3)分、FIQ评分(105.2±1.8)分均明显高于卡马西平组的(95.1±2.8)、(94.1±2.0)、(93.5±1.6)分,差异有统计学意义(P<0.05)。治疗6个月后,卡马西平组患者腰椎、股骨大转子、股骨颈骨密度均较治疗前显著下降,且明显低于卡马西平组,差异有统计学意义(P<0.05);左乙拉西坦组治疗6个月后腰椎、股骨大转子、股骨颈骨密度与治疗前比较差异无统计学意义(P>0.05)。结论左乙拉西坦与卡马西平治疗成人癫痫,左乙拉西坦更能明显提升患者认知功能,且对患者骨密度无影响。     

左乙拉西坦治疗小儿癫痫的影响分析

目的研究左乙拉西坦治疗小儿癫痫的疗效以及对智力的影响。方法在本院2017年4月-2019年5月收治的小儿癫痫患儿中选取74例开展研究,按照随机数表法分两组观察组和对照组,观察组37例,对照组37例,对照组采用奥卡西平进行治疗,观察组采用左乙拉西坦进行治疗,对比观察组与对照组组的治疗总有效率和智力评分变化。结果观察组与对照组比较,观察组的治疗总有效率较高,智力评分明显较高,两项对比差异有统计学意义(P <0.05)。结论左乙拉西坦治疗小儿癫痫有较好的治疗效果,治疗总有效率较高,且对患儿的智力有明显的改善作用,在实际临床小儿癫痫的治疗中具有较高的运用价值。     

Simultaneously recorded intracranial and scalp high frequency oscillations help identify patients with poor postsurgical seizure outcome

ObjectiveHigh frequency oscillations (HFO) between 80–500 Hz are markers of epileptic areas in intracranial and maybe also scalp EEG. We investigate simultaneous recordings of scalp and intracranial EEG and hypothesize that scalp HFOs provide important additional clinical information in the presurgical setting.MethodsSpikes and HFOs were visually identified in all intracranial scalp EEG channels. Analysis of correlation of event location between intracranial and scalp EEG as well as relationship between events and the SOZ and zone of surgical removal was performed.Results24 patients could be included, 23 showed spikes and 19 HFOs on scalp recordings. In 15/19 patients highest scalp HFO rate was located over the implantation side, with 13 patients having the highest scalp and intracranial HFO rate over the same region. 17 patients underwent surgery, 7 became seizure free. Patients with poor post-operative outcome showed significantly more regions with HFO than those with seizure free outcome.ConclusionsScalp HFOs are mostly located over the SOZ. Widespread scalp HFOs are indicative of a larger epileptic network and associated with poor postsurgical outcome.SignificanceAnalysis of scalp HFO add clinically important information about the extent of epileptic areas during presurgical simultaneous scalp and intracranial EEG recordings.     

De novo truncating mutation in SCN1A as a cause of febrile seizures plus (FS+)

SCN1A is one of the most relevant epilepsy genes. In general, de novo severe mutations, such as truncating mutations, lead to a classic form of Dravet syndrome (DS), while missense mutations are associated with both DS and milder phenotypes within the GEFS+ spectrum, however, these phenotype‐genotype correlations are not entirely consistent. Case report. We report an 18‐year‐old woman with a history of recurrent febrile generalized tonic‐clonic seizures (GTCS) starting at age four months and afebrile asymmetric GTCS and episodes of arrest, suggestive of focal impaired awareness seizures, starting at nine months. Her psychomotor development was normal. Sequencing of SCN1A revealed a heterozygous de novo truncating mutation (c.5734C>T, p.Arg1912X) in exon 26. Conclusion. Truncating mutations in SCN1A may be associated with milder phenotypes within the GEFS+ spectrum. Accordingly, SCN1A gene testing should be performed as part of the assessment for sporadic patients with mild phenotypes that fit within the GEFS+ spectrum, since the finding of a mutation has diagnostic, therapeutic and genetic counselling implications.