ABCB1基因C3435T单核苷酸多态性与难治性癫痫的相关性研究进展

癫痫是一种以脑部神经元过度放电所致的突然、反复和短暂的中枢神经系统功能失常为特征的发作性疾病.目前多数患者的发作能得到很好的控制,但仍有20%～30%难以控制[1].癫痫已成为神经科仅次于脑血管意外的第二大常见疾病.临床上,将同时接受两种以上的常规抗癫痫药物(an-tiepileptic drug,AEDs)而仍不能有效控制发作者称为难治性癫痫,将多种AEDs治疗不能良好控制者称为耐药.多药耐药是指由一种药物诱发而同时对其他多种结构与作用机制不同的AEDs产生耐药的现象.大量研究表明,这可能与患者的药物耐受基因有关.     

癫痫的药物治疗现状

癫痫是一种较常见的慢性脑部疾病,严重影响患者的身心健康和生活质量。目前癫痫仍以药物治疗为主,51%的患者需要抗癫痫药(antiepileptic drugs,AEDs)来控制痫性发作[1],现将癫痫的药物治疗现状及进展进行综述,为临床治疗提供参考。     

抗癫痫药物对热性惊厥相关癫痫患者发作控制的效果观察

目的:探讨抗癫痫药物(antiepileptic drugs,AEDs)对热性惊厥相关癫痫患者发作控制的效果。方法:选取2012年1月至2015年2月在我院治疗的热性惊厥相关癫痫患者190例,比较不同AEDs对热性惊厥相关癫痫患者发作控制的效果。结果:190例患者中共使用AEDs药物5种,分别为:丙戊酸、托吡酯、氯硝安定、苯巴比妥、左乙拉西坦。使用比例前三位的AEDs为丙戊酸、托吡酯、氯硝安定,比例分别为87.20%、64.47%和43.50%;190例患者中联合用药107例,占56.32%,单药治疗83例,占43.68%;单药治疗和联合用药对发作控制效果比较无统计学意义(P0.05);丙戊酸、托吡酯和氯硝安定对发作改善的效果最好,明显好于苯巴比妥和左乙拉西坦,而苯巴比妥和左乙拉西坦对发作改善的效果比较差异无统计学意义(P0.05)。结论:热性惊厥相关癫痫患者治疗应首选丙戊酸、托吡酯和氯硝安定,三种药物控制效果较好,值得临床推广使用。     

托吡酯和卡马西平对癫痫患儿血碱性磷酸酶及骨代谢的影响

癫痫是小儿神经系统常见疾病之一,为控制癫痫发作,患儿需长期服用抗癫痫药(AEDs),但近60％服抗癫痫药物的患儿会伴随骨量减少,如长期服用肝药酶诱导剂卡马西平等药物会引起骨质疏松[1].托吡酯(TPM)作为新兴抗癫痫药,碱性磷酸酶(ALP)是最常用的成骨作用的生化指标,为了解其对癫痫患儿骨代谢的影响,本研究采用TPM与卡马西平(CBZ)对照比较2种药物对癫痫患儿骨量、骨密度(BMD)及血清生化指标情况,现报告如下.     

特发性全面强直阵挛癫痫撤药与复发危险因素的前瞻性研究

目的观察抗癫痫药物（AEDs）有效控制的特发性全面强直阵挛发作癫痫患者在撤药后的复发情况,探讨影响复发的危险因素及缩短AEDs维持治疗时间的可能性。方法选择2005年10月至2008年10月间我院就诊的经AEDs有效控制特发性全面强直阵挛发作癫痫的患者,随机列入对照组（维持用药36个月逐渐减量至撤药）及研究组（维持用药24个月逐渐减量至撤药）,指导其撤除AEDs,随访24个月,记录复发情况。采用Kaplan-Meier模型及Log-rank检验比较两组的复发率,应用Cox比例风险模型分析影响复发的危险因素。结果对照组46例患者复发14例,累积复发率为30.4%;研究组40例患者复发13例,累积复发率为32.5%。两组复发率比较差异无统计学意义（log-rank统计值=2.29,P=0.34）。Cox多因素分析表明,年龄、病程、发作频率及合并用药数是影响复发的重要危险因素。结论特发性全面强直阵挛发作患者经有效控制后维持用药24个月撤除药物并未增加复发的风险。根据患者的年龄、病程、发作频率、合并用药积极审慎地调整维持用药时间是可行的。     

脑卒中后癫痫发作32例临床分析

目的探讨脑卒中后癫痫发作的临床特征及其治疗与预后情况。方法对瑞昌市人民医院2010年1月至2011年10月收治的32例首次脑卒中后发作癫痫患者的临床资料进行回顾性分析。结果早发型癫痫以全面性发作为主,占94.4%(17/18),迟发型癫痫以部分性发作为主,占57.1%(8/14)。早发型癫痫是否坚持服用抗癫痫药物对预后无明显影响(P>0.05),迟发型癫痫是否坚持服用抗癫痫药物对预后有明显影响(P<0.05)。结论脑卒中后癫痫早期发作一般不需要长期服用抗癫痫药,晚期发作者坚持应用抗癫痫药物对控制癫痫发作有良好效果。     

癫痫患者应用中药及保健品的研究

目的:调查癫痫患者的中药、保健品服用情况,并探讨影响患者服用中药的可能影响因素。方法:癫痫患者118例,采用自制调查问卷收集其人口学、临床资料,调查其中药、保健品服用情况。结果:正在服用或曾经服用过中药或保健品59例(50.0%),服用中药36例(30.5%),服用保健品28例(23.7%)。月收入3 000元(OR=0.36,95%CI为0.14~0.95,P=0.039)、服用1种抗癫痫药(AEDs)(OR=0.18,95%CI为0.05~0.62,P=0.007)、服用≥2种AEDs(OR=0.34,95%CI为0.12~0.98,P=0.046)更容易服用中药。结论:癫痫患者经常服用中药治疗癫痫,高月收入、多种AEDs服用者更多地服用中药。     

难治性癫痫的药物治疗进展

难治性癫痫是由于各种持续存在的病因引起而使用足够剂量的一线抗癫痫药物单用或多药联合治疗,且血药浓度达到治疗范围仍难以在足够长时间(2年～3年)内完全控制发作的癫痫,约占癫痫患者的10％～20％。难治性癫痫的病因是多方面的,主要有脑损伤性病理改变,血脑屏障对常用抗癫痫药的通透性差,致使脑内达不到有效浓度;镁缺乏、精神紧张、焦虑等心理因素的持续存在是癫痫发作的诱发因素。难治性癫痫的药物治疗有以下几种方案:     

恩施地区儿童癫痫诊治及管理存在的问题(附225例分析)

目的了解恩施地区儿童癫痫诊治及管理中存在的问题,以提高儿童癫痫的诊治水平。方法对2011年1—12月在我院儿科以癫痫收治患儿225例的诊治情况、癫痫综合征分类、随访及预后情况进行回顾性分析。结果本组中142例(63.1%)曾在外院诊断为癫痫,仅5例(3.5%)进行癫痫综合征分类;46例(32.4%)误漏诊,其中22例癫痫误诊为其他疾病,24例非癫痫误诊为癫痫。116例(81.7%)首诊治疗不正规,92例首次治疗使用2种抗癫痫药物(AEDs),其中农村患儿84例,24例用药剂量不足。来我院后,确诊癫痫201例,仅21例(10.4%)不能进行综合征归类,余180例均按照2010年国际抗癫痫联盟的癫痫分类诊断标准进行分型诊断,22例(10.9%)暂未应用AEDs治疗,单一AEDs治疗135例(67.2%),联用2种AEDs治疗33例(16.4%),联用3种AEDs治疗11例(5.5%)。随访率79.6%,服药1年内112例(55.7%)擅自减量或停药,农村患儿占44.3%。经治疗症状完全控制121例(60.2%),显效及有效59例(29.4%),无效21例(10.4%)。另24例经相关检查排除癫痫诊断,10例脑性瘫痪治疗后症状好转,余14例治愈。结论对于儿童癫痫的诊断,首先要确定发作类型,再明确癫痫综合征分类,然后按照规范、个体化原则选择疗效确切、依从性好的AEDs进行治疗。尤其要加强农村癫痫患儿治疗期间的随访跟踪管理。     

妥泰单药治疗成人癫痫的疗效观察

目的　观察妥泰单药治疗成人癫痫患者的疗效及安全性。方法　把35例成人癫痫患者分为A、B两 组,A组为未经任何抗癫痫药物治疗的患者,共20例。B组均经过多种抗癫痫药物单用或合用治疗,仍不能控制发 作,共15例。两组应用妥泰单药治疗至少20周,于治疗前观察并记录基础发作频率,剂量从25～50mg/d开始,每 周增加25mg,达有效剂量或100～200mg/d后维持治疗,并观察癫痫发作频率变化及不良反应等。结果　A组患 者中控制13例(65%)、显效3例(15%)、有效1例(5%)、无效3例(15%),总有效率85%。B组患者中控制4例 (27%)、显效3例(19%)、有效4例(27%)、无效4例(27%),总有效率73%。两组总有效率80%。病程短者、基础 发作频率少者治疗效果较好。首次接受抗癫痫药物治疗者发作完全控制比例明显高于经治过的病人。治疗过程 中无严重不良反应。结论　妥泰单药治疗对控制各种类型癫痫均有良好的效果,且耐受性、安全性好,可作为新诊 断癫痫患者的首选药物。     

Determination of creatine kinase isoenzyme MB activity in serum using immunological inhibition of creatine kinase M subunit activity. Activity kinetics and diagnostic significance in myocardial infarction.

This is a new method for the determination of creatine kinase isoenzyme MB activity in serum. The method uses direct activity measurement of creatine kinase B subunit activity after blocking of CK-M subunit activity by inhibiting antibodies. The test takes no longer than 15 min. The method yields an intra-serial C.V. of 2.0-12.9%, and a C.V. from day to day of 5.5%. The detection limit is 3.4 U/l creatine kinase MB. In the 95 cases with proven myocardial infarction several types of creatine kinase MB activity kinetics could be determined. The percentage of creatine kinase MB of peak CK-total is 6-25%, with a mean of 11.1%. The amount of creatine kinase MB with respect to total CK activity after reinfarction is higher than the amount after initial infarction.     

Dissociable correlates of two classes of retrieval processing in prefrontal cortex

Although substantial evidence suggests that the prefrontal cortex (PFC) implements processes that are critical for accurate episodic memory judgments, the specific roles of different PFC subregions remain unclear. Here, we used event-related functional magnetic resonance imaging to distinguish between prefrontal activity related to operations that (1) influence processing of retrieval cues based on current task demands, or (2) are involved in monitoring the outputs of retrieval. Fourteen participants studied auditory words spoken by a male or female speaker and completed memory tests in which the stimuli were unstudied foil words and studied words spoken by either the same speaker at study, or the alternate speaker. On "general" test trials, participants were to determine whether each word was studied, regardless of the voice of the speaker, whereas on "specific" test trials, participants were to additionally distinguish between studied words that were spoken in the same voice or a different voice at study. Thus, on specific test trials, participants were explicitly required to attend to voice information in order to evaluate each test item. Anterior (right BA 10), dorsolateral prefrontal (right BA 46), and inferior frontal (bilateral BA 47/12) regions were more active during specific than during general trials. Activation in anterior and dorsolateral PFC was enhanced during specific test trials even in response to unstudied items, suggesting that activation in these regions was related to the differential processing of retrieval cues in the two tasks. In contrast, differences between specific and general test trials in inferior frontal regions (bilateral BA 47/12) were seen only for studied items, suggesting a role for these regions in post-retrieval monitoring processes. Results from this study are consistent with the idea that different PFC subregions implement distinct, but complementary processes that collectively support accurate episodic memory judgments.     

俯卧位通气对高海拔地区肺复张治疗无效急性呼吸窘迫综合征患者氧合的影响

目的 探讨俯卧位通气对高海拔地区肺复张术(RM)治疗无效急性呼吸窘迫综合征(ARDS)患者的治疗作用.方法 从海拔2260m的地区医院筛选RM治疗无效的41例ARDS患者[平均氧合指数( PaO2/FiO2)较RM前升高＜20％视为RM无效],依不同病因分为肺内源性ARDS组(ARDSp组)和肺外源性ARDS组(ARDSexp组),每组再按信封法随机分为俯卧位组和仰卧位组,即ARDSp俯卧位组(11例)、ARDSp仰卧位组(9例)、ARDSexp俯卧位组(10例)、ARDSexp仰卧位组(11例).在通气前及通气1、2、3、4h监测动脉血氧分压( PaO2)、PaO2/FiO2、静态顺应性(Cst)、气道阻力(Raw)的变化.结果 通气lh时,ARDSexp俯卧位组PaO2/FiO2( mm Hg,l mm Hg=0.133 kPa)即较通气前显著升高(157.4±40.6比129.3±48.7,P＜0.05),并随通气时间延长呈持续增高趋势,4h达峰值(219.1 ±41.1);且ARDSexp俯卧位组通气3h内PaO2/FiO2较其他3组显著增高,另3组间则差异无统计学意义.ARDSp俯卧位组、ARDSexp俯卧位组通气4h时PaO2/FiO2均较相应仰卧位组显著增高(208.8±39.7比127.4±47.1,219.1±41.1比124.9±50.8,均P＜0.05).4组通气前后Cst无显著改变,各组间差异也无统计学意义.ARDSp俯卧位组通气4h时Raw(cmH2O·L-1·s-1)较通气前显著降低(6.8±1.7比10.7±1.8,P＜0.05),且明显低于其他3组;其他3组各时间点Raw组内及组间比较差异均无统计学意义.结论 俯卧位通气作为ARDS机械通气重要策略之一,可以改善RM无效高原ARDS患者的氧合,为抢救患者赢得宝贵的时间.     

Digital imaging among medical facilities

The Department of Veterans Affairs (VA) in the USA operates a network of 172 medical centres which all utilize a hospital information system (HIS) which has been developed and is currently maintained by the VA. During the past several years, an image management and communication module has been developed, installed and clinically utilized at the Washington DC and Maryland VA Medical Centres. This image management and communication system, referred to as the decentralized hospital computer program (DHCP) imaging system, is fully integrated with a commercial picture archiving and communication system (PACS). The system is utilized to capture, archive, and display all images generated within the hospital including radiology, nuclear medicine, pathology, endoscopy, bronchoscopy, and dermatology, intraoperative photographs, ECG data, and a limited number of paper documents. The ultimate goal of the project is to have all patient text and image data available at any clinical workstation to any authorized user anywhere within the network of medical centres. Clinical requirements for an imaging workstation include ease of use, rapid and reliable access to the complete set of patient information, and images which are of acceptable quality to meet the requirements of the user and the subspecialty. Patient confidentiality and data security must be safeguarded at all times. Integration of the images with the remainder of the patient's database was found to be critical to the success of the project. The experience at the Washington and Maryland facilities suggests that an imaging system that is successfully integrated with a hospital information system can provide substantial clinical and economic benefits both within and among medical centres. Clinical acceptance and utilization of the system has been excellent, particularly in diagnostic radiology where DHCP Imaging has been interfaced to a commercial PAC system. Based upon this initial experience, the VA has begun to deploy the system throughout its large network of medical centres.     

Myocardial elastography at both high temporal and spatial resolution for the detection of infarcts

Myocardial elastography is a novel method for noninvasively assessing regional myocardial function, with the advantages of high spatial and temporal resolution and high signal-to-noise ratio (SNR). In this paper, in-vivo experiments were performed in anesthetized normal and infarcted mice (one day after left anterior descending coronary artery [LAD] ligation) using a high-resolution (30 MHz) ultrasound system (Vevo 770, VisualSonics Inc., Toronto, ON, Canada). Radiofrequency (RF) signals of the left ventricle (LV) in longitudinal (long-axis) view and the associated electrocardiogram (ECG) were simultaneously acquired. Using a retrospective ECG gating technique, 2-D full field-of-view RF frames were acquired at an extremely high frame rate (8 kHz) that resulted in high-quality incremental displacement and strain estimation of the myocardium. The incremental results were further accumulated to obtain the cumulative displacements and strains. Two-dimensional and M-mode displacement images and strain images (elastograms), as well as displacement and strain profiles as a function of time, were compared between normal and infarcted mice. Incremental results clearly depicted cardiac events including LV contraction, LV relaxation and isovolumetric phases in both normal and infarcted mice, and also evidently indicated reduced motion and deformation in the infarcted myocardium. The elastograms indicated that the infarcted regions underwent thinning during systole rather than thickening, as in the normal case. The cumulative elastograms were found to have higher elastographic SNR (SNR(e)) than the incremental elastograms (e.g., 10.6 vs. 4.7 in a normal myocardium, and 6.0 vs. 2.4 in an infarcted myocardium). Finally, preliminary statistical results from nine normal (m = 9) and seven infarcted (n = 7) mice indicated the capability of the cumulative strain in differentiating infracted from normal myocardia. In conclusion, myocardial elastography could provide regional strain information at simultaneously high temporal (>/=0.125 ms) and spatial ( approximately 55 microm) resolution as well as high precision ( approximately 0.05 microm displacement). This technique was thus capable of accurately characterizing normal myocardial function throughout an entire cardiac cycle, at the same high resolution, and detecting and localizing myocardial infarction in vivo.     

手转胎头术失败的原因与分娩结局临床分析

目的 探讨手转胎头术失败的原因与分娩结局.方法 选择2008年1月至2010年12月于我院住院分娩的持续性枕横位、枕后位产妇198例,根据行手转胎头术后结果分为成功组126例、失败组72例.比较两组分娩结局,对比分析失败原因.结果 失败组胎儿体质量≥3500 g的发生率[76.4％(55/72)]明显高于成功组[31.7％(40/126)],差异有统计学意义(x2=30.177,P=0.001)、失败组宫缩乏力发生率[58.3％(42/72)]高于成功组[38.1％ (48/126)],差异有统计学意义(x2=7.569,P=0.006)、失败组骨盆临界或轻度狭窄发生率[38.9％ (28/72)]高于成功组[23.8％(30/126)],差异有统计学意义(x2 =5.030,P=0.002)、失败组手转胎头时机不当(宫口开大＜6 cm、胎头位于坐骨棘上及宫口开大8～10 cm、胎头位于坐骨棘下≥2 cm)发生率[61.1％(44/72)]高于成功组[38.9％(49/126)],差异有统计学意义(x2=9.084,P=0.003).失败组母儿并发症(产后出血、产褥病率、胎儿窘迫、新生儿窒息)发生率高于成功组(x2 =9.586,P=0.002、x2=9.334,P=0.002、x2=5.910,P=0.015、x2=5.240,P=0.022)、失败组剖宫产发生率[72.2％(52/72)]明显高于成功组[34.1 ％(43/126),x2=26.641,P=0.001)].结论 手转胎头术能使难产变顺产,降低剖宫产率,减少母儿并发症,但须积极预防、处理导致手转胎头术失败的原因,对矫正失败后继续矫正及试产应慎重.