特发性震颤的临床特点分析

目的 分析特发性震颤(essential tremor,ET)的临床特点。方法 对1997～2000年收治的42例特发性震颤患者发病年龄、性别、病程、震颤部位、震颤扩展方式、家族史、饮酒及药物反应等方面进行临床分析。结果 男女患者之比为28:1,平均发病年龄为(48.7±7.4)岁,呈单峰模式,病程(8.6±6.5)年。61.90％(26/42)的患者有家族史。42例患者中单纯姿势性震颤者30例(71.43％),运动性震颤者4例(9.52％),姿势及运动混合性震颤者2例(4.76％)。累及部位依次为双上肢者26例(61.90％),头部12例(28.57％),单侧上肢10例(23.81％),下颌2例(4.76％),舌2例(4.76％),发声肌1例(2.38％),躯干1例(2.38％)。36例参加饮酒试验者,29例(80.56％)有酒精反应;32例接受普萘洛尔治疗,完成治疗试验者28例(87.50％),服药后患者临床症状明显改善,与用药前比较差异有显著性意义(P<0.01)。结论 特发性震颤的临床表现以单症状姿势性震颤为主,上肢及头部受累明显,多数患者对酒精有反应,普萘洛尔治疗有效。     

特发性震颤的临床特点

目的　探讨特发性震颤 (ET)的临床特点。方法　对 80例 ET患者的临床资料进行分析。结果80例 ET中男 5 0例 ,女 30例 ,发病年龄 3～ 70岁 ,平均 34.6± 16 .3岁 ,病程 6个月～ 6 0年 ,平均 14.2± 9.9年。45例 (5 6 .3% )患者有阳性家族史 ,多呈常染色体显性遗传。临床主要表现为单症状的姿势性震颤 ,累及部位依次为手 (92 .5 % )、咽喉部 (2 1.3% )、头 (2 0 % )、下颏 (17.5 % )等。 17.5 %患者因震颤致日常生活困难。 34例饮酒患者中 ,91.2 %显示对酒精有反应性。 6 .3%患者并发帕金森病 (PD)。 6 1%患者小剂量心得安治疗有效。结论　本组 ET患者男多于女 ,发病年龄轻 ,呈单峰模式 ,临床表现为单症状姿势性震颤 ,部分病例可伴发PD,小剂量心得安治疗大多有效。     

特发性震颤的临床特点分析

目的探讨特发性震颤(essential tremor,ET)的临床特点。方法对92例ET患者的临床资料进行回顾性分析。结果92例ET中男58例,女34例,发病年龄12～80岁,平均(50.2±17.3)岁,病程6个月～60年,平均(16.2±8.9)年。49例(53.3%)患者有阳性家族史,多呈常染色体显性遗传,临床主要表现为单症状的姿势性震颤,累及部位依次为手(92.4%)、头(25.0%)、咽喉部(21.7%)、下颏(15.2%)等。16.3%患者因震颤致日常生活困难。42例饮酒患者中,85.7%显示对酒精有反应性。6.5%患者并发帕金森病(Parkinson’s disease,PD)。67.3%患者小剂量普萘洛尔治疗有效。结论本组ET患者男多于女,临床表现为单症状姿势性震颤,部分病例可伴发PD,小剂量普萘洛尔治疗大多有效。     

特发性震颤的临床和电生理学特点

目的 探讨特发性震颤(EI)的临床和电生理学特点.方法 回顾性分析并比较33例ET患者(ET组)和30例生理性震颤患者(对照组)的震颤类型、程度、幅度和负重对其的影响,以总结ET的临床和电生理学特点.结果 ET组患者动作性震颤(KT)的震颤程度明显高于对照组,震颤幅度明显大于对照组(均P＜0.01);而姿势性震颤(PT...     

原发性震颤三家系分析

目的探讨原发性震颤的临床表现、家系特点及治疗。方法对3例原发性震颤患者的临床特点和家族史进行分析。结果ET在同一家族中男女均可发病,3例先证者一级、二级亲属患病率分别为：41.2%、40.0%和50.0%。结论原发性震颤是具有家族遗传性的疾病,以姿势性或意向性震颤为主,手及头部受累明显,多数患者饮酒试验阳性,β受体阻滞剂普奈洛尔治疗有效。     

经单鼻孔-蝶窦入路手术准确定位的解剖学研究

目的通过经单鼻孔-蝶窦入路的解剖学研究，为临床经单鼻孔-蝶窦手术安全切除垂体腺瘤提供准确定位的解剖学资料。方法用成人尸头湿标本20例．在显微镜下对经单鼻孔-蝶窦入路手术准确定位重要的解剖学标志：鼻中隔后缘上端、蝶窦开口、蝶嵴、犁骨、蝶窦间隔、鞍底等进行解剖观察和测量。结果（1）前鼻棘至鞍底、蝶窦口、颈内动脉和视神经的距离分别为（70．20±0．98）mm、（57．29±0．68）mm、（69．66±0．74）mm、（70．95±1．03）mm。（2）蝶窦开口至鞍底、视神经、颈内动脉、鞍结节中点、鞍背中点以及犁状骨游离面下缘（后鼻腔与咽部交界处）距离分别为（14．62±0．80）mm、（13．25±0．99）mm、（14．38±0．82）mm、（15．03±1．21）mm、（25．24±1．08）mm、（17．21±0．59）mm。（3）20例标本中有17例鞍底骨板在蝶窦内形成隆凸，可作为窦内鞍底确定的标志。（4）鼻中隔后缘上端、蝶嵴、犁骨后缘与鞍底中部垂直相对。结论蝶窦开口是定位蝶窦前壁重要的解剖标志。鼻中隔后缘上端、蝶嵴、犁骨后缘可作为确定鞍底中线的定位标志。     

急性脑梗死患者血浆脑利钠肽变化及左心室功能的研究

目的 通过血浆N端脑利钠肽前体（NT-proBNP）测定及超声心动图检查,观察急性脑梗死患者血浆N端脑利钠肽（NT-proBNP）的变化及与心脏左心室功能（LVF）的关系,为防治急性脑梗死所致心脏损害提供依据。方法选择发病48h内经临床和颅脑CT检查确诊的急性脑梗死患者25例作为研究对象,所有患者既往无心脏病史,并除外心功能不全、心律失常等心脏并发症。选择性别和年龄相当的25例正常人作为对照组。以上2组均行超声心动图检查,同时抽血检测血浆NT-proBNP,对结果进行分析。结果（1）急性脑梗死组血浆NT-proBNP浓度高于正常对照组,二者比较差异有统计学意义（P〈0．01）。（2）急性脑梗死组心脏每搏输出量（SV）、心输出量（CO）明显低于正常对照组（39.4-13vs54&#177;12,P〈0．01;3．10&#177;1．49vs3．89&#177;1．34,P=0．020）。（3）急性脑梗死组左室射血分数（LVEF）明显低于正常对照组（45&#177;15VS66&#177;10,P〈0．01）。（4）急性脑梗死组E峰最大速度／A峰最大速度（E／A）与正常对照组比较差异有统计学意义（0．98&#177;0．30vs1．46&#177;0．21,P〈0．01）。结论急性脑梗死发病后血浆NT-proBNP浓度升高;急性脑梗死可引起左心室收缩及舒张功能下降,可能主要与急性脑梗死本身的病理生理机制有关。     

精神分裂症患者致炎性细胞因子和酪氨酸羟化酶mRNA表达水平的研究

目的探讨精神分裂症的外周神经免疫机制及其与临床症状的关系。方法检测精神分裂症患者致炎性细胞因子白介素-1β（IL-1β）、肿瘤坏死因子-α（TNF—α）以及酪氨酸羟化酶（TH）的mRNA表达水平，采用逆转录-聚合酶链反应及半定量检测技术，分别检测39例精神分裂症患者（患者组）、25例同胞（同胞组）及30名正常对照（对照组）外周血单个核细胞（PBMC）IL-1β、TNF-α及TH基因表达水平，同时应用阳性和阴性症状量表（PANSS）评定精神分裂症患者临床症状。结果患者组、同胞组及对照组IL-1β的mRNA表达水平分别为1．52±1．01、1．52±1．09和0．74±0．38；TNF—α的mRNA表达水平分别为1．18±0．99、1．01±0．87和0．70±0．29；TH的mRNA表达水平分别为0．55±0．33、0．61±0．32和0．28±0．20。患者组和同胞组的IL-1β、TNF—α、TH的mRNA表达水平均明显高于对照组（P〈0．05或P〈0．01）。患者组IL-1β（r=0．420）、TNF—α（r=0．430）的mRNA表达水平与PANSS的-般病理症状分呈正相关（P〈0．01）。同胞组与对照组合并统计，IL-1β与TNF-α的mRNA表达水平呈正相关（r=0．847，P〈0．01）；IL-1β与TH的mRNA表达水平呈正相关（r=0．666，P〈0．01）。患者组仅IL-1β与TNF—α的mRNA表达水平呈正相关（r=0．942，P〈0．01）。结论精神分裂症患者PBMC细胞TH、IL-1β和TNF—α的mRNA表达水平高于正常，且与精神分裂症的-般病理症状显著相关。     

生理性震颤与特发性震颤的评分比较

目的　通过震颤幅度评分 ,对生理性震颤 (PT)和特发性震颤 (ET)进行鉴别。方法　采用震颤幅度评分和 6项任务震颤幅度评分法 ,对 63例PT患者 (PT组 )和 38例ET患者 (ET组 )的上肢震颤幅度进行比较。结果　PT组与ET组震颤幅度评分差异无显著性 (P >0 0 5)。 6项任务震颤幅度评分差异有高度显著性 (P <0 0 1 )。PT组两项任务震颤评分接近或 >2分 ,而且非利手评分 >利手 ,差异有显著性 (P <0 0 5)。ET组 4项任务震颤评分 >2分 ,差异有显著性 (P <0 0 5) ,但利手与非利手间差异无显著性 (P >0 0 5)。结论　对上肢震颤幅度进行评分量化分析有助PT与ET的鉴别诊断     

特发性震颤的微电极导向射频治疗

目的探讨丘脑Vim核中神经细胞的电活动与特发性震颤（ET）的关系,总结Vim核射频毁损（切开）术治疗ET的可行性、并发症及疗效。方法对72例ET行CT定位微电极导向Vim核射频,并进行FAHN评分。结果Vim核中存在与肢体震颤节律一致的细胞电活动,毁损这些细胞后震颤立即消失,有效率100％。整体评分改善率60．2％;震颤程度和部位改善率53．1％;特殊动作和功能改善率51．6％;功能残疾改善率76．2％。暂时性并发症19例,3—36个月随访疗效稳定。结论丘脑Vim核中存在与ET密切相关的细胞,射频毁损Vim核是治疗ET安全有效措施。     

Hepatic Considerations in the Use of Antiepileptic Drugs

Summary: Virtually all of the major antiepileptic drugs (AEDs) can cause hepatotoxicity, although fatal hepatic reactions are rare. The mechanisms, incidences, and risk profiles for such reactions differ from drug to drug. With carbamazepine and phenytoin, hepatotoxicity may be due to drug hypersensitivity. Although the profiles of patients at risk have not been well-defined for these two antiepileptic drugs, it would appear from reports in the literature that older adolescents and adults are at higher risk than children of developing serious or fatal hepatotoxicity. Once hepatotoxicity develops, mortality rates are 10–38% with phenytoin and 25% for carbamazepine. The risk profile for valproate fatal hepatotoxicity has been more clearly defined. Those at primary risk of fatal hepatic dysfunction are children under the age of 2 years who are receiving multiple anticonvulsants and also have significant medical problems in addition to severe epilepsy. The risk is considerably lower for patients over the age of 2 years on valproate monotherapy. In contrast to the risk profile with other AEDs, adults receiving valproate as monotherapy have the lowest risk of hepatotoxicity. Fatal hepatic dysfunction coincident with valproate may be the result of aberrant drug metabolism. Concomitant use of AEDs that induce microsomal P450 enzymes (e.g., phenytoin and phenobarbital) may enhance the production of a toxic metabolite, and hence the greater risk of hepatotoxicity with polypharmacy.     

Vascular Malformations and Epilepsy: Clinical Considerations and Basic Mechanisms

Summary: Vascular malformations (VMs) are associated with epilepsy. The natural history of the various VMs, clinical presentation, and tendency to provoke epilepsy determine treatment strategies. Investigations have probed the mechanisms of epileptogenesis associated with these lesions. Electrophysiologic changes are associated with epileptogenic cortex adjacent to VMs. Putative pathophysiologic mechanisms of epileptogenesis include neuronal cell loss, glial proliferation and abnormal glial physiology, altered neurotransmitter levels, free radical formation, and aberrant second messenger physiology.     

Diagnostic Difficulties and Treatment Implications

Summary: Differentiation between types of epileptic seizures has been aided in recent years by the introduction of intensive neurodiagnostic techniques and the development of increasingly detailed classification systems. Paradoxically, these developments have not simplified the task of matching the appropriate antiepileptic drug to a particular seizure type. It is reasonable to assume that anticonvulsant drugs will have different effects on different types of seizures, but faulty, circular reasoning can enter the picture if one also assumes that responses of seizures to different drugs signify different seizure types. There are several examples of differential diagnoses that can fall prey to this problem, including the diagnosis between partial seizures with secondary generalization and generalized tonic-clonic seizures, and the diagnosis between complex partial seizures and absence seizures with automatisms, among others. Considerations of etiology in future classification systems can further complicate the problem: should one then choose an anticonvulsant drug on the basis of individual seizure type or on the basis of the type of epilepsy? Ramifications of this issue extend even to the drug approval process. Official sanction is not given for use of a drug for a seizure type not included in the original efficacy studies, even if later scientific evidence shows that seizure type to be related to a type that is included. New trials must be undertaken. These problems arise from how we choose to classify seizures.     

Cognitive Dysfunction Associated with Antiepileptic Drug Therapy

Summary: Epilepsy is frequently associated with cognitive dysfunction. However, the reasons for this correlation are unclear. Possible influential factors include patient age; duration, frequency, etiology, and type of seizures; hereditary factors; psychosocial issues; and antiepileptic drug (AED) therapy. Whereas many of these factors are beyond the physician's control, AED therapy is one element that can be addressed in treatment decisions by recognizing the potential cognitive effects of particular AEDs. For example, phenobarbital impairs memory and concentration; phenytoin affects attention, problem solving ability, and performance of visuomotor tasks. In contrast, carbamazepine may affect concentration, while valproate would appear to have minimal effects on cognition. Moreover, cognitive effects of AEDs are amplified with coadministration of multiple anticonvulsants (polytherapy). A review of studies on the cognitive effects of monotherapy with AEDs, as opposed to those of polytherapy, provides evidence that drug-related cognitive dysfunction can be reversed if patients are switched to a simpler therapeutic regimen. Future research should be directed toward developing reliable measures for assessing and monitoring cognition, and understanding the particular cognitive side effects of each AED. Physicians also need to revise their opinions about which side effects are "tolerable" for epileptic patients.     

Epilepsy and anomalies of neuronal migration: MRI and clinical aspects

Neuronal migration disorders are the result of disturbed brain development. In such disorders, neurons are abnormally located. In diagnosing these conditions, magnetic resonance imaging is superior to any other imaging technique. This enables us to improve our knowledge of the clinical correlates of neuronal migration. With reference to migrational disorder, a retrospective study of all 303 patients with epileptic seizures referred for magnetic resonance imaging during a 3-year period was performed, 13 patients (aged 12-41, mean age 27) were identified. They represent 4.3% of the entire study group. Of the patients with known epilepsy, 6.7% and of the mentally retarded, 13.7% had migrational disorders. Four patients had schizencephaly as the dominant finding, one was classified as hemimegalencephaly, 2 had isolated heterotopias, and 6 had localized pachy- and/or poly-microgyria. The clinical pictures are complex. Ectopias of grey matter are recognised foci of epilepsy, but from an epileptological and a clinical viewpoint little attention has been given to these disorders. The present study shows that malmigration is not rare in epilepsy patients, especially not in the mentally retarded.     

Carbamazepine Efficacy and Utilization in Children

Summary: Carbamazepine is effective for preventing partial and generalized tonic-clonic seizures in children. Although absence epilepsies are more common in children than adults, an estimated 80% of children with epilepsy have seizure types or epilepsies that are potentially responsive to carbamazepine. The differential diagnosis of ictal staring is an especially important issue in children because absence and atypical absence seizures are more prevalent in children than adults. Age-related pharmacokinetic differences and drug interactions are major considerations in children. On average, children have higher clearance rates of carbamazepine, shorter half-lives, and higher ratios of carbamazepine-10, 11-epoxide to carbamazepine than adults. In addition, children with severe epilepsy are more likely to require multiple-drug therapy, which can lead to complex drug interactions. When carbamazepine is administered along with valproate, drug protein binding interactions can cause intermittent side effects.     

Carbamazepine Efficacy in Adults With Partial and Generalized Tonic-Clonic Seizures

Summary: Carbamazepine and phenytoin are drugs of choice in initial monotherapy for adult partial and secondarily generalized tonic-clonic seizures. These designations reflect the results of the Veterans Administration Epilepsy Cooperative Study Group of 1985. An earlier comparative study of carbamazepine and phenytoin by Ramsay and associates found both drugs equally effective in controlling new-onset seizures. Among the advantages of carbamazepine is that it causes relatively few cognitive and dysmorphic side effects. Its disadvantages are its unavailability in parenteral formulation and its metabolic autoinduction. The latter must be compensated for by planned dosage increases to maintain therapeutic plasma steady-state levels during the first 2 or 3 months of treatment. Carbamazepine is judged a drug of choice in the treatment of these secondarily generalized tonic-clonic seizures, and the drug of choice in children, adolescents, and women susceptible to the dysmorphic side effects associated with other anticonvulsant agents.     

Etiologic and Preventive Aspects of Epilepsy in the Child–Bridging the Gap Between Laboratory and Clinic

Summary: Four broad categories of basic phenomena are pertinent to developing ways to prevent epilepsy. These include mechanisms of epileptogenesis, ictal initiation and temporary entrainment by the seizure discharge of normally functioning brain, seizure propagation, and control mechanisms that function both to restrain the cascade of epileptic events culminating in a seizure and to arrest the epileptic event and restore the interictal state. In newborns and children, hypoxia-ischemia is a major factor leading to epileptogenesis, and several schemes are proposed to classify, quantify, and prevent hypoxic-ischemic encephalopathy. Control mechanisms must be better understood in order to develop prophylactic recommendations for epilepsy, and an experimental model of "kindling antagonism" may increase our understanding of these. Programs of prevention of seizures in children will evolve only if basic researchers and clinicians work productively together to develop an adequate understanding of factors important in epileptogenesis and antiepileptogenic control mechanisms.     

Predisposing and Causative Factors in Childhood Epilepsy

Summary: We review information from large studies of defined populations, examining the role of known factors and especially of prenatal and perinatal factors in contributing to nonfebrile seizure disorders of early childhood. We depend especially, but not exclusively, on the recently completed analyses from the Collaborative Perinatal Project of the National Institute of Neurological and Communicative Disorders and Stroke, the NCPP. About 4% of children in the NCPP who had at least one non-febrile nonsymptomatic seizure by the age of 7 years had a previous seizure during acute neurologic illness, such as meningitis or during the acute illness after trauma. Many such seizures should potentially be preventable. Of children with seizures, 10% had had a neonatal seizure and 13% had had a febrile seizure. Among the hundreds of prenatal and perinatal factors explored as predictors of childhood seizure disorders, the principal predictors identified were congenital malformations of the fetus, cerebral and noncerebral; family history of certain neurologic disorders; and neonatal seizures. In agreement with the British National Child Development Study, labor and delivery factors in the NCPP appeared to contribute very little to childhood seizure disorders. Maldevelopment, rather than damage at birth to an initially intact nervous system, appeared to be the more common mechanism. Most seizure disorders of early childhood remained unexplained by the large set of prenatal and perinatal characteristics examined.     

Classification of methods in transcranial Electrical Stimulation (tES) and evolving strategy from historical approaches to contemporary innovations

Transcranial Electrical Stimulation (tES) encompasses all methods of non-invasive current application to the brain used in research and clinical practice. We present the first comprehensive and technical review, explaining the evolution of tES in both terminology and dosage over the past 100 years of research to present day. Current transcranial Pulsed Current Stimulation (tPCS) approaches such as Cranial Electrotherapy Stimulation (CES) descended from Electrosleep (ES) through Cranial Electro-stimulation Therapy (CET), Transcerebral Electrotherapy (TCET), and NeuroElectric Therapy (NET) while others like Transcutaneous Cranial Electrical Stimulation (TCES) descended from Electroanesthesia (EA) through Limoge, and Interferential Stimulation. Prior to a contemporary resurgence in interest, variations of transcranial Direct Current Stimulation were explored intermittently, including Polarizing current, Galvanic Vestibular Stimulation (GVS), and Transcranial Micropolarization. The development of these approaches alongside Electroconvulsive Therapy (ECT) and pharmacological developments are considered. Both the roots and unique features of contemporary approaches such as transcranial Alternating Current Stimulation (tACS) and transcranial Random Noise Stimulation (tRNS) are discussed. Trends and incremental developments in electrode montage and waveform spanning decades are presented leading to the present day. Commercial devices, seminal conferences, and regulatory decisions are noted. We conclude with six rules on how increasing medical and technological sophistication may now be leveraged for broader success and adoption of tES.