全面性癫痫伴热性惊厥附加症GABRG2基因突变的筛查

目的:筛查全面性癫痫伴热性惊厥附加症(GEFS+)患者的GABRG2基因,并探讨GEFS+与GABRG2基因的关系。方法:收集49例患者及110例正常对照组血样,应用变性高效液相色谱技术对GABRG2基因的10个编码外显子及与mRNA剪接有关的内含子进行筛查,对发现异常洗脱峰者进行测序。结果:未发现GABRG2基因突变,但发现1个单核苷酸多态性(SNP)位点:Exon2-89T>A(rs2284782)。这个SNP位点在两组中基因型和等位基因频率的分布差异无统计学意义(P>0.05)。结论:GABRG2基因突变可能不是GEFS+患者主要的致病原因,SNP(rs2284782)在患者与正常对照者中分布无明显差异。     

Axon initial segment dysfunction in a mouse model of genetic epilepsy with febrile seizures plus

Febrile seizures are a common childhood seizure disorder and a defining feature of genetic epilepsy with febrile seizures plus (GEFS+), a syndrome frequently associated with Na⁺ channel mutations. Here, we describe the creation of a knockin mouse heterozygous for the C121W mutation of the β1 Na⁺ channel accessory subunit seen in patients with GEFS+. Heterozygous mice with increased core temperature displayed behavioral arrest and were more susceptible to thermal challenge than wild-type mice. Wild-type β1 was most concentrated in the membrane of axon initial segments (AIS) of pyramidal neurons, while the β1(C121W) mutant subunit was excluded from AIS membranes. In addition, AIS function, an indicator of neuronal excitability, was substantially enhanced in hippocampal pyramidal neurons of the heterozygous mouse specifically at higher temperatures. Computational modeling predicted that this enhanced excitability was caused by hyperpolarized voltage activation of AIS Na⁺ channels. This heat-sensitive increased neuronal excitability presumably contributed to the heightened thermal seizure susceptibility and epileptiform discharges seen in patients and mice with β1(C121W) subunits. We therefore conclude that Na⁺ channel β1 subunits modulate AIS excitability and that epilepsy can arise if this modulation is impaired.     

伴和不伴热性惊厥史颞叶癫痫患者的临床特征及托吡酯疗效比较

目的:分析颞叶癫痫(TLE)伴和不伴热性惊厥(FS)史两组患者的临床特征及托吡酯治疗疗效差别。方法:收集41例TLE患者的临床资料,据其是否伴FS史分为两组,分别比较两组患者临床特征、托吡酯治疗有效率、保留率以及副作用。结果:TLE伴和不伴FS两组分别在男女比例、年龄、起病年龄、出生缺血缺氧史均无统计学差异,但TLE伴FS组癫痫家族史明显高于不伴FS组。TLE伴和不伴FS两组患者托吡酯治疗的有效率、1年无发作率、副作用发生率及3个月、6个月和1年保留率均无明显统计学差异。结论:TLE和既往高热惊厥史关系仍不明确。托吡酯是一种治疗TLE相对安全、有效的药物。     

短程口服地西泮预防小儿复发性热性惊厥的临床研究

热性惊厥(febrile seizures,FS)是引起小儿惊厥的最常见原因之一,可分为单纯性热性惊厥(simple febrile seizures,SFS)和复杂性热性惊厥(complex febrile seizures,CFS).该病发生率约占5岁以下儿童惊厥的2％～5％,其中CFS约占26.4％[1].大约30％～40％的患儿可复发,严重的FS可引起不同程度的脑损伤,导致脑海马组织硬化萎缩及神经元变性坏死[2],并与日后情感行为异常、学习困难、智能发育落后及颞叶癫痫等有关[3],因此预防其发作十分重要.短程间歇口服地西泮预防FS,具有良好的预防效果.为观察地西泮不同给药方法预防FS的疗效,本文收集临安市人民医院2010年1月1日至2013年12月31日收治的热性惊厥患儿132例,随访1年,采用不同的地西泮给药方法,对本病复发率进行了研究,现报道如下.     

Pediatric febrile seizures and childhood headaches in primary care

Febrile seizures and migraine headaches in children are two of the most common neurological diagnoses seen by primary care practitioners. It is essential that a knowledge base be developed to better care for this population. This article reviews pediatric febrile seizures, including management and treatment recommendations and childhood headaches, with an emphasis on migraine headaches. Diagnosis, management, and referral criteria are also reviewed.     

Scopolamine model of dementia: electroencephalogram findings and cognitive performance

Background

Memory and cognitive functions are known to decline with advancing age. Studies have suggested that this may be due to a decrease in cholinergic function in the brains of elderly people. This review aims to assess studies documented in the literature dealing with the ‘scopolamine model’ of dementia.

Methods

Sources included MedLine searches from the last 10 years (search for ‘scopolamine model’, ‘dementia’, ‘electroencephalogram’, ‘cognition’) and references from original and review articles. The aim was to include human and animal studies occupying the cholinergic hypothesis in cognitive dysfunction. Electroencephalographic (EEG) and cognition findings were considered.

Results

Scopolamine influences delta, theta, alpha and beta activity in EEG and partially mimics the EEG changes found in patients with senile dementia or dementia of the Alzheimer type. Effects on different cognitive functions have been extensively documented.

Conclusion

Scopolamine produces similar memory deficits seen in the elderly, but the drug cannot induce the full range of deficits seen in patients with Alzheimer's disease. Various aspects of memory were unaffected by scopolamine administration. Memory improvements in elderly subjects can be achieved after cholinergic stimulation.

     

联合脑电功能MRI观察颞叶癫痫脑活动局域的一致性改变

目的 探讨颞叶癫痫患者功能MRI(fMRI)局域一致性(ReHo)改变的癫痫电活动基础。方法 对6例单侧颞叶癫痫患者行同步脑电图(EEG)-fMRI。另选取正常对照21名,采集fMRI数据。所有fMRI数据经处理后被分为42小段,分析每小段数据的ReHo值与该段数据时间内间期痫样发放次数的相关性。结果 与正常对照相比,mTLE患者右侧海马区域、右侧颞叶及双侧顶叶ReHo值明显增高。体素依赖分析结果显示,癫痫侧的内侧颞叶、丘脑及脑干等部位ReHo值与间期痫样发放次数呈正相关,其中内侧颞叶处相关性较高(r=0.36, P<0.02)。结论 癫痫电活动发放是ReHo值升高的主要生理基础,为基于ReHo分析的fMRI在癫痫活动检测方面的应用提供了生物学证据。     

Epileptic seizures and epilepsy in the elderly

Contrary to former views the incidence rate of epilepsies after age 65 are higher than in childhood and adolescence and epileptic seizures are one of the most common neurological problems in the elderly. The most common seizure types are primary focal with possible secondary generalization in about two thirds of the patients, the most common etiology are cerebrovascular disturbances, brain tumors, head injuries and degenerative diseases. Todd's pareses or other postictal disturbances are quite common. This article covers diagnostic and therapeutic aspects with special consideration of the influence of accompanying diseases (especially of the liver and kidneys) on the pharmacotherapy.     

Evaluation and management of pediatric febrile seizures in the emergency department

Febrile seizures are common in children, who are often brought to the nearest emergency department (ED). Patients who meet the case definition of simple febrile seizure are not at higher risk for serious bacterial illness than clinically similar febrile children who have not experienced a convulsion. Children who have had complex febrile seizures must be evaluated on a case-by-case basis, and treated with diagnostic and therapeutic measures based on the differential diagnosis. Round-the-clock prophylactic administration of antipyretics has not been demonstrated to affect recurrence of simple febrile seizure. Parents should be informed that recurrence is common, and that these convulsions are benign with an excellent prognosis. Care-givers should be informed that the risk of developing epilepsy after a simple febrile seizure is low, but that complex febrile seizures carry a significantly higher risk.     

剥夺性睡眠后自然睡眠脑电图在癫痫诊断中的意义

目的：探讨剥夺睡眠后自然睡眠脑电图对癫痫的诊断价值。方法：对86例临床诊断癫痫患进行常规及剥夺睡眠脑电描记，并进行随访。结果：本组86例癫痫患间歇期常规脑电图异常率为26．5％(23／86)，剥夺睡眠脑电图异常率为77．9％(67／86)，剥夺睡眠脑电图能够较明确提示癫痫病人发作类型，指导临床用药，并与非癫痫发作进行鉴别。结论：剥夺睡眠脑电图痫样放电检出率显提高，对癫痫的诊断与鉴别诊断有重要的参考价值。     

急性中、重型脑外伤后早期癫痫的脑电图监测及预后评价

目的:探讨急性中重型脑伤后早期癫痫发生的高危因素;诊断昏迷状态中非惊厥性癫痫或非惊厥性癫痫持续状态(NCS或NCSE)。方法:选用视频脑电监测系统,对86例急性中重型脑伤患者进行1周的EEG监测。结果:(1)86例脑伤患者中7例(8.14％)有癫痫的临床发作,6例(6.98％)为NCS或NCSE。(2)脑伤越重特别是有颅内出血者,早期癫痫发生的可能性越大,尤其是NCSE,差异有显著性意义;性别、年龄差异无显著性意义。结论:重型、特重型脑伤及颅内出血者是早期癫痫发生的高危因素,特别是NCSE;脑伤后昏迷状态即使没有癫痫的临床发作也应常规进行EEG监测,以便临床及时处理。     

院前急救指导应用于小儿高热晾厥治疗的效果评价

目的探讨院前急救指导应用于小儿高热惊厥的效果,以降低高热惊厥对患儿的损伤,取得最佳的急救效果。方法2009年4月至2011年2月我院儿科共收治小儿高热惊厥急救患儿112例,对其中75例患儿家长采取院前急救护理指导,此75例患儿作为院前急救护理指导组。其余37例患儿作为非院前急救护理指导组,待医护人员赶到发病现场后对其进行常规急救护理。随后分别记录2组患儿的误吸、舌咬伤、高热惊厥再度发作以及脑损伤发生情况。结果院前急救护理指导组由于家长操作不当导致误吸的仅有1例,高热惊厥3例,无脑损伤、舌咬伤情况发生,院前急救护理指导组不良后果发生率为5．3％,低于非院前急救护理指导组的51．4％。结论在医疗急救人员还未到达患儿的发病现场之前便利用移动电话对患儿家长进行院前急救护理指导,能够显著减少患儿意外损伤,稳定患儿家长情绪,降低惊厥对患儿的影响,这对改善患儿症状及其后续治疗具有积极作用。     

小儿热性惊厥的急救护理措施分析

目的：探讨小儿热性惊厥的急救护理措施。方法选择我院2011年11月至2013年11月接诊的热性惊厥患儿110例,其中观察组55例患儿采用急救护理措施,而对照组55例患儿采用常规护理措施,比较两组患儿的护理效果。结果护理后,观察组患儿的抽搐至停止时间、抽搐至意识清醒时间、住院时间分别为（2．2±0．5） min、（5．2±0．7） min、（5．4±0．4） d,均明显短于对照组患儿,组间比较差异有统计学意义（ P＜0．05）;观察组患儿的复发率为5．45％,明显低于对照组患儿,组间比较差异有统计学意义（ P＜0．05）;观察组患儿并发症的发生率仅为3．64％,明显低于对照组患儿,组间比较差异有统计学意义（ P＜0．05）。结论采用急救护理措施有利于缩短患儿惊厥抽搐时间和住院时间,促进患儿意识快速清醒,并在一定程度上降低患儿复发率和并发症等的发生率,有利于患儿的预后,值得临床应用。     

小儿高热惊厥的危险因素及护理对策

目的探讨小儿高热惊厥的危险因素和护理干预对策。方法选取89例高热惊厥患儿,分为对照组43例和观察组46例,采用单因素及Logistic多因素回归分析小儿高热惊厥的危险因素。2组患儿入院后均接受急救处理等常规护理干预,观察组在此基础上根据高热惊厥危险因素实施有针对性的护理干预,对比2组患儿的护理效果。结果单因素和Logistic多因素回归分析显示,年龄、体温、家族史与小儿高热惊厥紧密相关(P0.05),是引起小儿高热惊厥的危险因素。观察组退热时间短于对照组,高热惊厥发作次数少于对照组,癫痫复发率低于对照组,差异均有统计学意义(P0.05)。结论小儿高热惊厥的危险因素有年龄、体温和家族史,根据危险因素对患儿实施针对性的护理干预,能降低高热惊厥发作次数和癫痫复发率。     

First place winner. Recurrent febrile seizures: an unusual presentation of nutritional rickets

Nutritional rickets is a serious disease that is infrequently encountered in the United States today because of the fortification of infant formulas and dairy products with vitamin D. We report a case of undiagnosed nutritional rickets presenting with recurrent febrile seizures. Febrile seizures, a common and usually benign presenting complaint, are not among the symptoms generally known to be associated with rickets. Therefore, the disease was uncovered only after a careful history and physical examination prompted a more thorough investigation into an underlying cause for recurrent seizures. The diagnosis was subsequently confirmed by quantitative laboratory testing. We review the historical and cultural factors, symptoms, and physical findings suggestive of this potentially serious yet easily treatable disease.     

动态脑电图对热性惊厥患儿脑功能预后评估的价值

目的:探讨热性惊厥患儿动态脑电图(ambulatoryelectroencephalography,AEEG)监测的脑电图异常率与热性惊厥复发、日后癫痫发作的关系,对远期预后进行评估。方法:1999-01/2002-12新乡医学院第二附属医院脑电监测室,癫痫研究室入组的168例热性惊厥患儿进行24h动态脑电图(24h-AEEG)分析。结果:低热组(体温<38℃)和高热组(体温>39℃)AEEG异常率分别为57%和18%,两者间差异有显著性(P<0.01);年龄≤3岁和5～6岁AEEG异常率分别为23%和56%,两者间差异有显著性意义(P<0.01);首次发作和发作6次以上异常率分别为17%和58%,两者间差异亦有显著性意义(P<0.01)。结论:热性惊厥患儿AEEG阳性率与体温、年龄和发作次数、惊厥持续时间有密切关系。对低热发作、大龄发作及发作次数较多、惊厥持续时间长的患儿定期进行AEEG跟踪监测,对评估及判断疗效和预后有重要意义。     

院前急救指导应用于小儿高热惊厥治疗的效果评价

目的 探讨院前急救指导应用于小儿高热惊厥的效果,以降低高热惊厥对患儿的损伤,取得最佳的急救效果.方法 2009年4月至2011年2月我院儿科共收治小儿高热惊厥急救患儿112例,对其中75例患儿家长采取院前急救护理指导,此75例患儿作为院前急救护理指导组.其余37例患儿作为非院前急救护理指导组,待医护人员赶到发病现场后对其进行常规急救护理.随后分别记录2组患儿的误吸、舌咬伤、高热惊厥再度发作以及脑损伤发生情况.结果 院前急救护理指导组由于家长操作不当导致误吸的仅有1例,高热惊厥3例,无脑损伤、舌咬伤情况发生,院前急救护理指导组不良后果发生率为5.3％,低于非院前急救护理指导组的51.4％.结论 在医疗急救人员还未到达患儿的发病现场之前便利用移动电话对患儿家长进行院前急救护理指导,能够显著减少患儿意外损伤,稳定患儿家长情绪,降低惊厥对患儿的影响,这对改善患儿症状及其后续治疗具有积极作用.