目的 探索Wilson病(WD)合并脾功能亢进患者血液肝功能等指标与其脾脏大小相关性,及脾脏切除的临床疗效.方法 回顾性分析2018年1月至2021年12月在安徽中医药大学神经病学研究所附属医院住院的63例行脾切除术的WD患者的临床资料,并收集行脾切除术前、后的病例资料,采用Spearman相关性分析脾切除前后血液肝功能等指标与脾脏大小相关性.结果 采用Spearman相关性分析法得出脾脏厚度与PLT(r =-0.54,P<0.001)呈负相关,与PT(r =0.28,P=0.026)、SOD(r =0.28,P=0.028)、TBA(r = 0.30,P=0.017)、TBIL(r =0.36,P=0.004)呈正相关.脾脏长度与PLT(r =-0.37,P=0.003)呈负相关、与TBA(r =0.28,P=0.025)呈正相关.WD患者脾切除后SOD、ALB、PLT水平较术前升高,PT以及TBIL水平较术前下降,差异有统计学意义(P<0.05).结论 脾切除术对WD合并脾亢患者的PLT下降具有改善作用,可部分改善肝脏的解毒、代谢、合成等功能指标,并对改善凝血功能具有积极影响.

目的 探讨良性家族性婴儿癫痫(BFIE)的临床特点.方法 回顾性分析1例PRRT2基因突变和双侧额区放电的BFIE患者的临床资料,并进行文献复习.结果 BFIE主要临床表现为局灶性癫痫发作,PRRT2为主要致病基因.发作间歇期EEG多无异常,局灶性放电部位多为额区.本病预后良好,多数抗癫痫药物对本病有效.结论 婴儿期以局灶性癫痫起病,如丛集性发作,且智力、运动发育正常,需结合基因和EEG检查,考虑BFIE可能.

本文报道2例一氧化碳中毒迟发性脑病患者的临床资料,并结合文献分析其临床表现、MRI及脑电图特点.

目的 探讨线粒体脑肌病伴乳酸血症和卒中样发作(MELAS)综合征的临床症状、EEG、影像学及肌肉病理特点,以提高对其认识及诊断的正确率.方法 回顾性分析6例基因确诊的MELAS综合征患者的临床资料,分析其临床表现、EEG、影像学、肌肉病理特点.结果 6例患者中男性4例,女性2例,年龄最大者43岁,最小者4岁,平均起病年龄(15.00±13.10)岁.临床主要表现为痫性发作(100％)、卒中样发作(50.0％)、形体矮小(50.0％)、认知功能下降(66.7％)、共济失调(33.3％)、血乳酸增高(83.3％)等;6例EEG检查示4例顶、枕、颞区局灶性癫痫样放电,2例广泛性δ波,其中1例伴弥漫性1.5～2.0 Hz多棘慢、慢棘慢波发放.影像学检查:头颅MRI示4例顶、枕、颞区呈长T1、长T2改变,DWI高信号改变伴脑室扩大、脑沟裂增宽,2例未见明显异常;1例磁共振波谱分析(MRS)示左枕区乳酸峰升高,N-乙酰天门冬氨酸峰减低.肌活检:5例见蓬毛样红纤维,5例CCO染色见强烈反应性血管增生现象(SSVs);3例SDH染色见SSVs.结论 MELAS综合征的临床多表现为癫痫、卒中、发育迟缓、智能减低等.EEG多表现为背景异常、局灶性放电,发作期可见多种发作图形,且局灶性放电部位多与影像学病灶一致.头颅MRI多显示病灶位于大脑半球后部,顶、枕、颞多见,不按脑血管分布.MRS可出现N-乙酰天门冬氨酸峰下降和乳酸峰升高.肌肉病理多见蓬毛样红纤维及SSVs.

Aim To investigate the clinical manifestations, EEG changes, treatment and prognosis of patients with sleep-related hypermotor epilepsy (SHE). Methods A case of sleep-related hypermotor epilepsy was reported. Accoding to the literature, the age, clinical manifestations, EEG changes, therapeutic effects were analyzed. Results The diagnosis of the disease mainly depends on clinical manifestations and EEG examination. Carbamazepine is its first-line treatment, and most patients can get good results.Conclusion When patients frequently experience short-term arousal and excessive exercise during sleep, SHE should be taken into account.

睡眠相关过度运动性癫痫(sleep－related hypermotor epilepsy, SHE),既往称夜发性额叶癫痫 (nocturnal frontal lobe epilepsy, NFLE),主要表现为在睡眠期间发生的以痉挛样动作为主的多种不自主运动症状,同一晚间可以发生多次[1].自1981年首次报道以来[2],国内外陆续有少数相关报道.现报告我院1例病例.

目的 探讨综合性护理干预对于肝豆状核变性合并癫痫患者的影响.方法 将58例肝豆状核变性合并癫痫患者随机分为观察组30例和对照组28例,对照组实施常规护理,观察组在常规护理基础上加以综合性护理干预.比较两组患者并发症的发生情况及出院时的护理满意度情况.结果 观察组患者的并发症发生率为6.7％,明显低于对照组32.1％,出院时观察组的护理满意度为100％,明显高于对照组的42.9％.两组比较差异均有统计学意义(P<0.05).结论 对肝豆状核变性合并癫痫患者实施综合性护理干预对于减少患者临床并发症,提高其生活质量及护理满意度具有重要意义.

目的:探讨甲状腺功能正常的2型糖尿病患者血清促甲状腺激素(TSH)与颈动脉内中膜厚度(IMT)相关性.方法:选取我院2016年1月-2017年4月162例甲状腺功能正常的患者,其中122例来自内分泌科收治的2型糖尿病患者.以IMT 1.0mm为切点,分为IMT增厚组(IMT≥1.0mm),IMT正常组(IMT＜1.0mm),探讨TSH与IMT的相关性.以另外40例同期体检中心的健康体检者作为对照组.结果:Spearman秩相关分析显示,IMT与年龄、FPG、TG、TSH呈正相关;Logistic多元回归分析显示年龄、TSH是影响IMT的独立危险因素.结论:甲状腺功能正常的2型糖尿病患者中,年龄和TSH水平与IMT相关.

目的:观察滋阴活血通络方治疗糖尿病周围神经病变(DPN)的临床疗效.方法:将60例阴虚血瘀证DPN患者随机分为两组,在饮食、锻炼和降糖的治疗基础上,对照组30例口服甲钴胺片,观察组30例在对照组治疗方案上加服滋阴活血通络方.两组均治疗12 w后比较临床疗效.结果:观察组症状改善情况以及正中神经、腓总神经传导速度均优于对照组,差异有统计学意义(P<0.05).结论:滋阴活血通络方可缓解DPN患者肢端疼痛和麻木等其他临床症状,加快神经传导速度,提高临床有效率.

威尔逊氏病(WD),即肝豆状核变性(hepatolenticular degeneration),也称HLD,是一种涉及铜代谢障碍的单基因常染色体隐性遗传病.WD是由13号染色体的ATP7B基因突变引起.ATP7B基因编码特定的p型铜转运三磷酸腺苷(ATP)酶.ATP7B基因突变导致铜经胆汁排泄及与血浆铜蓝蛋白结合障碍,从而过量沉积在肝脏、脑、肾、眼角膜和其他组织和器官.WD可能在任何年龄发病,但发病年龄大多数5～35岁.全世界范围内,WD发病率约为1.5～3/100000,致病基因携带者约1/90.

Objective:To study the clinical significance of electroencephalograms(EEG) in patients with hepatolenticular degeneration(HD) known as Wilson’s disease and hepatic encephalopathy(HE) . Methods:EEG data of 26 cases was retrospectively analyzed .Results:EEG abnormalities with the clinical stages of hepatic encephalopathy have a significant relationship ,and the more severe clinical symptoms , the more EEG changes .Conclusion:EEG can be used as a diagnostic indicator and an important means of monitoring changes in the condition of patients with HE .

Objective:To study the features of electroencephalograms (EEG ) in children with tourette syndrome(TS) .Methods:The long‐term EEG data were retrospectively analyzed in 34 children with TS .Results:Abnormal EEG was found inll cases .The of abnormality rate was 32% .The main per‐formance of abnormal cases was that their basic rhythm slowed down .The α waves decreased while the slow waves increased .Five cases showed unilateral or bilateral epileptiform discharges .Conclusion:EEG is abnormal in part of patients with TS .There is a possible relationship between the course of disease and abnormal EEG .Long‐term EEG is a useful and objective indicator in early detection and evaluation of the degree of severity of TS

一、多发性抽动症概述 多发性抽动症(multipletics coprolalia syndrome)又称为抽动秽语综合征gilleSdela tourett综合征(tourette's syndrome,TS),简称TS,是一种复杂的神经精神障碍性疾病,主要特点为不自主的、重复性的、突然快速的、无目的的多部位肌肉运动抽动和发声抽动,病程较长,一般均在1年以上,可长达数年.给患儿的生理、心理发育常带来重大的家庭及社会影响.

目的：分析Lennox-Gastaut综合征（LGS）的异常脑电图，总结其特征性的表现。方法收集7例临床诊断为LGS的病例，对其行动态长程EEG检查，就其EEG表现进行分析。结果①7例患者中，所有患者均有背景慢化表现。②所有病例均出现弥漫性高-极高幅慢棘慢、多棘慢波。③5例患者出现“爆发-抑制”趋势。④3例患者出现棘波节律。结论 Lennox-Gastaut综合征的脑电改变具有特征性，动态长程EEG可为临床诊断提供客观而有效的诊断依据。

Objective To analyze the clinical symptom characteristics and traditional Chinese medicine(TCM) syndrome types in Wilson's disease(WD).Methods A retrospective analysis was performed on the clinical symptom characteristics and TCM syndrome types of 410 WD patients who did not receive decopper treatment from January 2007 to December 2010.Results Most of the 410 WD patients were youths,with extrapyramidal system damage and liver damage as the initial symptoms and asymptomatic elevation of aminotransferases as the main clinical manifestation.The patients under 15 years of age had deficiency of liver and kidney and liver-kidney yin deficiency as the main TCM syndromes;so did the patients aged 15-30 years,but they had significantly increased proportions of those with internal retention of damp-heat,internal stirring of liver wind,and deficiency of both qi and blood.The patients with deficiency of liver and kidney,liver-kidney yin deficiency,and internal retention of damp-heat had a relatively short course of disease,while those with internal stirring of liver wind had a relatively long course of disease.Conclusion WD occurs mostly in youths,with damage of the liver,brain,and kidney as the main clinical manifestations and deficiency of liver and kidney,liver-kidney yin deficiency,internal retention of damp-heat,and internal stirring of liver wind as the main TCM syndromes.Deficiency of liver and kidney and liver-kidney yin deficiency are the main TCM syndromes in early stage of WD.

目的 探讨肝豆状核变性(HLD)睡眠障碍的临床特点及其发生率.方法 对120例WD患者和32例健康志愿者进行睡眠问卷测评和多导睡眠检测(PSG).结果 HLD组睡眠障碍发生率明显高于对照组(P＜0.01),入睡困难、RLS发病率脑型组高于肝型组(P＜0.05).结论 HLD患者常合并睡眠障碍,是HLD主要的非运动障碍症状之一.

Objective To study the clinical features of the patients with hereditary spinocerebellar ataxia type 1(SCA1) in Anhui region.Methods The clinical data and the genomic DNA samples of these SCA patients and their family members from Anhui region were collected,their genotypes were analyzed by PCR-denaturing polyacrylamide gel electrophoresis and cloning sequencing,and their clinical features were also analyzed.Results There were 59 patients from Anhui region who were diagnosed as SCA in the study,of which 39 cases came from 15 families and 20 cases were sporadic.7 SCA1 patients were detected and confirmed by gene diagnosis,who showed symptoms and signs such as cerebellar ataxia,dysarthria,tendon hyperreflexia,Romberg's signs and so on.4 cases(4/7) had mental retardation and 2 cases(2/7) had peripheral sensory loss.None of them had symptoms and signs such as vision loss chorea and so on.The results of cranial MRI scan of these 7 patients showed cerebellar sulci widened,vermis atrophy,the pool around the brain stem expanded and cerebral cortex atrophy.2 cases were with abnormal BAEP by evoked potential and 1 case was with neurogenic lesions by EMG.All patients were with normal liver function,blood lipids,serum copper,copper oxidase and ceruloplasmin.Conclusion Except for the common symptoms and signs for all patients with cerebellar ataxia,mental retardation,brain stem and cerebral cortex atrophy are the clinical features for patients with SCA1,which provides the basis for the patients diagnosed with cerebellar ataxia to be screened for SCA1 gene subtype.

铜是人体必需的微量元素之一,在体内除参与构成铜蓝蛋白(ceruloplasmin, CP)外,还是多种重要代谢酶的辅助因子,对维持神经系统的正常结构和生理功能起重要作用.遗传或环境因素所致的铜在体内蓄积或缺乏均会导致神经系统铜代谢相关酶和蛋白质的功能紊乱,引起神经细胞功能紊乱,并可导致大脑皮质神经细胞变性坏死、神经细胞减少、退行性病变及神经胶质细胞增生[1、2].探索金属元素铜对神经细胞功能影响的机制,对揭示神经变性疾病的发病机制和指导临床诊疗实践有重要意义,也是近年来神经科学的研究热点.