发作性运动障碍疾病临床特点分析

目的分析发作性运动障碍疾病临床特点.方法通过总结本院临床资料并且查阅相关文献,进行总结。结果发作性运动障碍疾病临床比较少见,诊断与治疗相对比较困难。结论临床医师应该对发作性运动障碍疾病引起重视。     

运动障碍疾病数据库的研究进展

运动障碍疾病是神经内科的主要疾病之一,对其临床资料科学合理的管理是科研和教学的基础。利用数据库管理系统,采用多种学科的研究方法,对患者的基本信息、住院信息、出院时情况以及定期随访信息进行连续的登记,建立运动障碍疾病数据库,保存和管理相关的临床数据,研究运动障碍疾病的病因、诊断、治疗和预后,指导运动障碍疾病的规范化防治,合理分配现有的医疗资源,方便了临床和科研工作的需要。现主要对运动障碍疾病数据库建立的目的、方法、应用及意义进行综述。     

62例弥漫性食管痉挛临床体会

弥漫性食管痉挛是一种原发性食管运动障碍疾病,患者以食管蠕动异常为特征.笔者收集了有关弥漫性食管痉挛方面的最新研究资料,并结合自身多年的临床体会,对该病的发病机制、临床表现、诊断及治疗等方面进行了较为系统的阐述,为进一步深入研究弥漫性食管痉挛疾病提供帮助.     

发作性运动源性运动障碍6例

发作性运动源性运动障碍(PKD)又称发作性运动源性手足舞蹈徐动症(PKC),其主要临床表现是由突然运动诱发的发作性肢体随意运动障碍.该疾病较少见,我们收集了近2年在我院诊治的6例患者,并结合文献对该疾病的临床特征、发病机制、遗传规律以及诊断和治疗进行分析,现报道如下.     

基底动脉尖综合征24例临床分析

目的:研究基底动脉尖综合征(Top of the basilar artery syndrome,TOBS)的病因、临床表现和影像学特征,加深对这种疾病的认识.方法:对24例患者的原始资料进行回顾性分析.结果:TOBS患者以中老年为主,病因主要为脑栓塞和脑血栓形成,高危因素有高血压、糖尿痛、心脏病等.临床以突然眩晕或意识障碍起病,合并眼球运动障碍及瞳孔异常、运动障碍、偏盲.CT及MRI提示重要的特征是中脑或丘脑梗死合并其他部位梗死,如枕叶、小脑、颞叶,双侧丘脑对称性蝶形梗死灶.结论:TOBS的诊断主要依赖临床及影像学表现,死因主要为脑疝,早期全面综合治疗可以提高生存率.     

基底动脉尖综合征18例临床分析

目的探讨基底动脉尖综合征（top of the basilar artery syndrome,TOBS）的临床特点,进一步对这种疾病的认识。方法对18例诊断明确基底动脉尖综合征的脑梗死患者进行回顾性分析。结果发现TOBS患者以中老年为主,患者病因及高危因素有高血压、糖尿病、心脏病等,临床表现多以意识障碍起病,常合并眼球运动障碍及瞳孔异常、运动障碍、偏盲,可伴有精神行为异常等。CT及MRI提示重要的特征是中脑或丘脑梗死合并其他部位梗死,如枕叶、小脑、颞叶。结论 TOBS诊断主要依赖于临床及影像学表现,死因主要为中脑或丘脑梗死及其它并发症如肺部感染、心脏疾病、上消化道出血等,早期溶栓、抗凝,及全面综合治疗可以提高生存率。     

迟发性运动障碍的诊断和治疗进展

迟发性运动障碍(tardive dyskinesia,TD)又称为迟发性多动症,是1968年由Crane首先提出的一种疾病.该病多见于大剂量长期服用抗精神病药物之后的患者,临床主要特点为不自主、有节律的重复刻板式运动.本文对TD的临床诊断、表现特征以及治疗进行相关综述.     

发作性运动障碍临床特征及误诊分析

目的 探讨发作性运动障碍(PxD)的临床特点,分析误诊原因.方法 对39例PxD患者起病年龄、性别、临床特征、实验室检查及影像学检查、视频脑电监测、诊断、治疗情况、疾病转归等进行分析.结果 39例患者起病年龄(13.5±10.3)岁,误诊时间(4.7±2.7)年,误诊率92.3%,误诊最多见为癫痫(28例),还有癔症(3例)和小儿惊吓综合征(1例),尚见"肌张力障碍查因"不能确诊4例.分类诊断发作性运动诱发性运动障碍最多见,占76.9%,发作性过度运动诱发性运动障碍最少见,占10.2%.12.8%患者有家族史,小剂量卡马西平和奥卡西平疗效确切.结论 PxD是一类病因不明、预后较好、可见家族性和散发性病例的罕见病,临床误诊率高,临床医生应加强对该病的认识,典型的发作期症状和视频脑电监测是鉴别诊断的重要依据,正确诊治能提升患者生活质量.     

基底动脉尖综合征的分析

目的研究基底动脉尖综合征的病因、临床特征、影像学表现及治疗预后,提高对该疾病的认识。方法列2000-2004年收治的15例TOBS患者的临床表现及影像学资料等原始资料进行回顾性分析。结果TOBS患者以中老年为主,主要危险因素是高血压,其次是高脂血症,脑栓塞是其主要病因,临床核心症状是意识障碍、眼球运动障碍和瞳孔改变。结论CT和MRI是诊断TOBS的主要检查手段,MRI在早期诊断方面优于CT。TOBS预后较差,致残率较高,早期全面综合治疗可提高生存率。     

基底动脉尖综合征42例临床分析

目的:研究基底动脉尖综合征的病因、临床特征、影像学表现及治疗预后,提高对该疾病的认识。方法:对2001年至2007年收治的42例TOBS患者的临床表现及影像学资料等原始资料进行回顾性分析。结果:TOBS患者以中老年为主,主要危险因素是高血压,其次是高脂血症,脑栓塞是其主要病因,临床主要症状是意识障碍、眼球运动障碍和瞳孔改变。结论:CT和MRI是诊断TOBS的主要检查手段,MRI在早期诊断方面优于CT,TOBS预后较差,致残率较高,早期全面综合治疗可提高生存率。     

Environmental illness. A controlled study of 26 subjects with '20th century disease'

Environmental illness is a polysymptomatic disorder believed by "clinical ecologists" to result from immune dysregulation brought on by common foods and chemicals. We systematically evaluated 26 subjects who had been assigned a diagnosis of environmental illness. The subjects indicated a strong interest in their diagnosis, were generally satisfied with their clinical ecologist, and were dissatisfied with traditional medical approaches. Subjects reported varying treatments, including dietary restrictions, avoidance of offending agents, and physical treatments. Using the Diagnostic Interview Schedule, we found that 15 (65%) of 23 subjects met criteria for a current or past mood, anxiety, or somatoform disorder compared with 13 (28%) of 46 age- and sex-matched community controls. We conclude that patients receiving this diagnosis may have one or more commonly recognized psychiatric disorders that could explain some or all of their symptoms.     

Disorders of movement and behaviour during sleep

OBJECTIVE: To outline recently described movement disorders during sleep which are common and poorly recognised. DATA SOURCES: Computer-based literature search up to July 1990 (with the index terms sleep disorders, sleep myoclonus, nocturnal myoclonus, periodic movements in sleep, REM behaviour disorder and parasomnias) supplemented by a manual search through the references of papers obtained by computer search and a manual search through contents of the following journals: Sleep, Sleep Research, Neurology and Brain. DATA SYNTHESIS AND CONCLUSION: There is a group of common and poorly recognised movement disorders during sleep. The patient usually presents complaining of disturbed sleep, daytime somnolence and abnormal nocturnal behaviour. These conditions are susceptible to precise diagnosis and effective treatment.     

6: Movement disorders II: the hyperkinetic disorders

Involuntary movements or hyperkinesias are classified into syndromes of chorea, ballism, tremor, dystonia, myoclonus and tics. The hyperkinesias are caused by disturbances in the circuitry connecting the cerebral cortex, thalamus, basal ganglia and cerebellum. Drugs are a common cause of movement disorders. The aim of management is to characterise the movement disorder, identify and treat the cause or institute symptomatic treatment. The genetic basis of many movement disorders is increasingly recognised. Where there are potential implications for family members, accurate diagnosis and counselling are particularly important.     

浅析中医对运动障碍性疾病的认识

我国古代医家对运动障碍性疾病已经有所认识。通过对相关古医籍的整理,就中医对该疾病的定义、名称、病因、临床特点、诊治方法等认识进行初步探讨和分析,并与现代医学认识进行了比较。     

Cranial dystonia, blepharospasm and hemifacial spasm: clinical features and treatment, including the use of botulinum toxin.

Blepharospasm, the most frequent feature of cranial dystonia, and hemifacial spasm are two involuntary movement disorders that affect facial muscles. The cause of blepharospasm and other forms of cranial dystonia is not known. Hemifacial spasm is usually due to compression of the seventh cranial nerve at its exit from the brain stem. Cranial dystonia may result in severe disability. Hemifacial spasm tends to be much less disabling but may cause considerable distress and embarrassment. Patients affected with these disorders are often mistakenly considered to have psychiatric problems. Although the two disorders are quite distinct pathophysiologically, therapy with botulinum toxin has proven very effective in both. We review the clinical features, proposed pathophysiologic features, differential diagnosis and treatment, including the use of botulinum toxin, of cranial dystonia and hemifacial spasm.     

JAK2 V617F突变研究进展及其诊治骨髓增殖性肿瘤的作用

骨髓增殖性疾病(MPD)中,除慢性粒细胞性白血病有特异性染色体及基因标志而容易诊断外,其他几种MPD患者病程缓慢,临床表现不特异,缺乏特异性诊断指标,容易导致漏诊和误诊。2005年以来多个国际研究小组陆续报道该类MPD有高频获得性JAK2 V617F点突变,JAK2 V617F突变是JAK2基因突变的常见类型,对MPD具有重要的诊断价值。现对JAK2基因结构及功能、JAK2 V617F点突变及其临床意义、诊治MPD的作用等方面予以综述。     

一个可能为发作性运动障碍家族的Ib型假性甲状旁腺功能减退症的分子学诊断

作者描述了最初被诊断为发作性运动诱发的舞蹈手足徐动症的两姊妹,其特点为短暂的抽搐发作后出现突然运动,然而随后的实验表明有低钙血症、高磷酸盐血症和甲状旁腺激素水平升高,符合Ib型假性甲状旁腺功能减退症。这一诊断通过基因测试得到证实,确认在染色体20q13.3上有3000碱基     

Recognition, diagnosis and treatment of fetal alcohol syndrome

Fetal Alcohol spectrum disorders are extremely common. The clinical impact and societal effects are tremendous. Prevention and treatment of these disorders begins with an accurate diagnosis. All health care providers who work with children (and adults) with special health care needs should be alert to these findings. The key to early diagnosis is to always keep the diagnostic possibility in the broad differential diagnoses of growth and developmental disorders. As with most conditions, early recognition and intervention is associated with better outcomes. Once an FASD is identified in a specific patient, prompt referrals and enrollment in indicated services are necessary to get the best outcomes. In this article we review the diagnostic criteria and clues to prompt early identification of FASDs. We also discuss the therapeutic options shown to be most effective for this group of individuals.     

下一代测序在孟德尔型运动障碍中的应用(英文)

在过去10年中，下一代测序技术(next generation sequencing，NGS)得到了十分迅速的发展。与传统测序相比，NGS具有高通量和高灵敏性等优点。孟德尔型运动障碍是一类常见的神经疾病。由于样本较少等原因，通过连锁分析等传统方法寻找新的孟德尔型运动障碍尤其是罕见疾病的致病基因已经变得越来越困难，而NGS则可作为发现新的致病基因的理想手段。目前NGS已被应用于多种孟德尔型运动障碍的研究。本文将从基因组和转录组的角度对NGS在孟德尔型运动障碍中的最新应用进行综述，并展望NGS在罕见孟德尔型疾病中的应用。