发作性运动诱发性运动障碍患者PRRT2基因突变的研究

目的:探讨发作性运动诱发性运动障碍(Paroxysmal kinesigenic dyskinesia,PKD)个体与富含脯氨酸的跨膜蛋白2(Proline-rich transmembrane protein2,PRRT2)基因突变的相关性.方法:收集由佳木斯中心医院提供的14例散发病例的外周血3mL,同时取健康人30例对照.DNA提取试剂盒提取外周血DNA.PCR扩增PRRT2基因外显子2的全序列,PCR产物分别送上海生工测序,测序结果用Blast与Genebank中的序列(NM—145239.3)进行比对,寻找突变位点.结果:14例个体中发现4例错义突变,30例健康对照中均无基因突变.4例基因突变分别为c.846-847 insC(p.P217fsX) (5/14)、c.906G＞A(p.Glys237Arg) (1/14)、c.609C＞G(p.Pro138Ala) (5/14)和c.882G＞A(p.Arg229 Lys)(9/14),其中(c.882G＞A(p.Arg229 Lys)为新发现的突变.结论:PRRT2基因突变是PKD的主要致病基因,本研究发现了一个新的点突变,扩大了PKD发病的基因谱,为阵发性运动障碍疾病的诊断提供新的检测突变点.     

发作性运动诱发性运动障碍的发病机制和治疗的研究进展

发作性运动诱发性运动障碍(PKD)主要临床表现为运动启动时突然发生异常运动,发作时意识清楚,发作间期无神经系统阳性体征,发作频繁,临床中应注意与癫痫的鉴别.抗癫痫治疗对原发性PKD有效,一般预后良好.本文综述PKD的发病机制及其治疗的研究进展.     

小剂量国产奥卡西平治疗发作性运动诱发运动障碍15例

目的探讨小剂量国产奥卡西平治疗发作性运动诱发运动障碍(PKD)的疗效。方法 PKD患者15例,给予国产奥卡西平,起始量均为每次150 mg,q12 h,维持剂量450～600 mg·d-1,分两次(间隔12 h)服用。结果 14例完全控制,1例发作减轻。结论小剂量国产奥卡西平治疗PKD副作用小,疗效肯定。     

发作性运动诱发性舞蹈手足徐动症研究进展

<正>发作性运动诱发舞蹈手足徐动症(paroxysmal kinesigenicchoreoathetosis,PKC),也称之为发作性运动诱发性运动障碍(paroxysmal kinesigenic dyskinesia,PKD),是发作性异常运动(paroxysmal Dys-kinesia,PD)的一种,是以运动诱发的不自主运动为特征的一类疾病,发作间期正常。而发作性运动障碍病又是一类少见的神经系统疾病,包括PD、发作性共济失调(EAorPA)Ⅰ型、Ⅱ型和发作性震颤(PT)三种类型。本文就近年有关PKC的发病机制及临床治疗研究进展作一综述。     

12例发作性运动诱发舞蹈手足徐动症临床分析

目的总结发作性运动诱发舞蹈手足徐动证的临床特点及诊断要点。方法对12例发作性运动诱发舞蹈手足徐动证诊断过程进行分析总结。结果 12例患者中,发作表现为舞蹈样手足徐动,无意识丧失,发作期及发作间期脑电图无特异性异常。结论发作性运动诱发舞蹈手足徐动症不同于癫痫的一类疾病,易误诊。     

良性阵发性位置性眩晕的诱发因素探讨

目的探讨良性阵发性位置性眩晕(BPPV)的诱发因素。方法随机选取2014年1月至2016年1月期间门诊就诊的BPPV 66例,对患者的病史资料进行回顾性分析,并采用问卷对其进行调查。结果失眠、精神及心理因素、过度疲劳、上呼吸道感染、全身疾病、偏头痛、合并内耳疾病是诱发BPPV发作的独立因素。结论干预患者的各类诱发因素为预防及治疗BPPV发作提供了重要临床依据。     

一个家族性肥厚型心肌病大家系致病基因的定位研究

目的识别一汉族家族性肥厚型心肌病（FHCM）家系的致病基因,分析其基因型与表型关系。方法收集到一个规模较大的FHCM家系,共5代89位成员,采集外周血标本,抽提基因组DNA。应用美国ABI PRISM 3700 DNA自动测序仪进行全基因组扫描,连锁分析确定初步致病基因的初步区域后,进一步进行精细定位和单倍型分析,搜索候选基因并明确致病基因。结果该家系共14例患者（4例已经去世,其中2例是年轻时猝死）,在世的10例患者的左心室壁厚度均超过13mm。该家系遗传方式符合常染色体显性遗传病的特点,通过全基因组扫描和连锁分析,在微卫星标记D1$249处获得最大概率对数值,为3．45（重组率θ=0．15）。通过精细定位将致病基因所在位置确定为一号染色体长臂3区2带（1q32）,该区域中含有肌钙蛋白T基因（TNNT2）。结论该家系的致病基因位于染色体1q32,TNNT2基因位于该区域,是重要的候选基因。     

月经性偏头痛的治疗与护理体会

月经性偏头痛发病机制目前尚未明了,一般认为与遗传、内分泌代谢因素、饮食、精神因素有关。大部分月经期头痛加重,每月发作≥1次,或月经期发作,或月经前1～7d发作,或月经后1～2d发作,即为月经性偏头痛。狭义的月经性偏头痛指患者头痛发作只在月经期发生,其他时间不出现头痛[1]。约50%女性偏头痛患者的头痛发作和月经存在相关性[2]。现将其治疗及护理体会总结如下。1临床资料2010年6月-2011年6月我科收治入院月经性偏头痛患     

伴认知功能障碍及痉挛性疼痛脊髓小脑性共济失调3型一家系研究

目的 对伴痉挛性疼痛脊髓小脑性共济失调3型(SCA3)一家系进行临床表现及基因检测分析,探讨其临床和遗传特征,及其痉挛性疼痛的治疗方法。方法 通过对SCA一家系先证者临床表现、基因检测确定SCA3亚型;检测家系成员有关SCA3基因;分析该家系中患者的临床表现、遗传特征;对伴肌肉痉挛的患者给予加巴喷丁胶囊治疗并观察疗效。结果 该家系5代人中,在世的4位患者,其共同表现为小脑性共济失调、口齿不清、腱反射亢进、眼睑退缩,其中2人伴有不同程度肌肉痉挛性疼痛。先证者具有认知功能障碍。先证者及其无症状女儿和另一患者检测SCA3相关基因的CAG重复数分别为72、76、78次。2例伴肌肉痉挛疼痛的患者,接受加巴喷丁胶囊治疗,症状缓解明显。结论 SCA3具有临床表现和遗传异质性,同时加巴喷丁胶囊对缓解SCA3伴发的肌肉痉挛可能有效。     

早发性帕金森病患者DJ-1基因的突变筛查

目的分析四川地区早发性帕金森病(PD)患者及常染色体隐性遗传早发性帕金森病(AREP)家系患者中DJ-1基因外显子的突变情况。方法采用聚合酶链反应、变性高效液相色谱(DHPLC)及DNA测序等技术,对四川地区汉族人群中AREP及家族性PD患者DJ-1基因进行突变筛查。结果对63例早发散发性PD及5个来源于2个AREP家系的患者进行了DJ-1基因2～7外显子的扩增及电泳检测,未发现大片段的纯合性缺失,进一步进行的2～7外显子DHPLC筛查也未发现杂合峰,这说明不存在点突变和小的缺失/插入突变。结论 DJ-1基因的突变可能不是四川地区早发型PD患者发病的危险因素。     

Degraded and undegraded carrageenans and experimental gastric and duodenal ulceration

The prevention of histamine-induced gastric and duodenal ulceration in the guinea-pig has been examined using a series of undegraded and degraded carrageenans. Undegraded carrageenans were active at lower doses than degraded carrageenans. The high viscosity of the undegraded carrageenans in solution prevented their use in larger doses. Degradation of carrageenan without serious loss of sulphate, gives a product which allows the dose to be increased to an extent that its effect more than offsets the slight loss in activity caused by the degradation. No single feature of carrageenan structure can be related to anti-ulcer activity although degradation, and hence reduction of molecular size, generally reduces activity. Sulphate contents over 30% have little apparent effect on activity; κ-carrageenans were not consistently different in anti-ulcer activity from Λ-carrageenans. This contrasts with the antipeptic activity of carrageenans where κ-carrageenans are less active than their Λ-counter-parts. As with antipeptic activity, the degree of anti-ulcer activity is probably determined by a combination of structural features which includes molecular size and polyanionic properties.     

Affective and Anxiety Disorders and Alcohol and Drug Dependence:

Depression and anxiety frequently coexist in patients with substance use disorders. This clinically-oriented article examiens the relationship between these conditions and emphasizes data showing that substances of abuse can cause signs and symptoms of both depression and anxiety. These substance-related syndromes appear to have a different course and prognosis than uncomplicated, independent anxiety and major depressive disorders, and clinicians should consider the role of alcohol and other drugs in all patients presenting with these complaints. The authors will also outline an approach for diagnosing and managing patients with the combination of a substance use and depressive or anxiety disorder.     

Alcohol and Substance Use and Abuse in Women and Children

No abstract available for this article.     

Glucosidase and fucosidase inhibitors and Advances in nucleosides and nucleotides.

The American Chemical Society Symposium "Glucosidase and fucosidase inhibitors" took place on 1 April 1998 and was organized by Professors Zbigniew J Witczak (UConn, School of Pharmacy, CT, USA), Kuniaki Tatsuta (Waseda University, Tokyo, Japan) and Waldemar Priebe, MD (Anderson Cancer Center, University of Texas, USA). Professor Witczak provided introductory remarks including the status of existing glucosidase inhibitors, and chaired the morning session, which consisted of six lectures. The symposium was well received, and was particularly attractive for those interested in networking, as attendance was about sixty. In addition, some participants and attendees presented posters on the subject during the regular poster session organized by the Division of Carbohydrate Chemistry.