伴脑出血的常染色体显性遗传性脑动脉病伴皮质下梗死和白质脑病的基因突变及临床特征(附2例报告)

目的探讨伴脑出血的常染色体显性遗传性脑动脉病伴皮质下梗死和白质脑病(CADASIL)的基因突变、临床及影像学特征等。方法回顾性分析2例伴脑出血的CADASIL患者的临床和发病特征,并通过文献检索总结分析全球报道的所有伴脑出血的CADASIL患者。结果本研究中1例为46岁男性,出现小脑出血及丘脑出血,有高血压病及口服抗血小板药物史,NOTCH3基因突变为p. R544C;另1例为52岁女性,反复基底节、丘脑、放射冠出血,无相关危险因素,NOTCH3基因突变为p.C388Y,该突变是世界首位报道伴脑出血的CADASIL患者。文献检索共76例伴脑出血的CADASIL报道,其中在有基因说明的65位患者中R544C最常见(65.1%),脑出血部位主要为基底节区(29.1%)、丘脑(29.1%),其次为脑叶(19.0%)、小脑(11.4%)、脑干(6.3%)和放射冠(5.1%),部分患者伴高血压或有口服抗栓药物史。结论 CADASIL可能是脑出血的一种危险因素,临床上需要合理控制CADASIL患者的血压,谨慎使用抗栓药物,并可参考脑微出血MRI扫描情况评估出血风险。     

常染色体显性遗传性夜间额叶癫癎12例的临床及脑血流灌注观察

常染色体显性遗传性夜间额叶癫癎(Autosomal dominant nocturnal frontal lobe epilepsy，ADNFLE)是很具临床特征的一种癫癎综合征，国外自1994年开始陆续有一些病例报道，Phillips等报道散发病例。近年来，国内虽有个案病例报道，但临床对其认识仍不足，现将我们自2002年以来诊治的12例ADNFLE患者的临床及脑血流灌注进行回顾，报道如下。     

阵发性睡眠性血红蛋白尿合并脑出血1例报告

阵发性睡眠性血红蛋白尿(PNH)临床少见,并发脑血栓形成国内屡有报道,但并发脑出血很少报道.本文报告1例PNH合并脑出血.     

结节性硬化症合并脑出血1例报告

结节性硬化症(TSC)是单一常染色体显性遗传性疾病。现报告1例TSC合并脑出血如下。1病例女,41岁。因"不能言语、右侧肢体无力2周"于2011年2月12日入院。患者2周前劳动时突然出现不能言语及右侧肢体无力,无头痛及恶心呕吐,卧床2周无好转而来本院就诊。患者半岁时发作性肢体抽搐,服用抗癫痫药物(具体不详)效果不佳;14岁后癫痫发作明显减少而自行停服抗     

合并脑出血伴有皮质下梗死和白质脑病的常染色体显性遗传性脑动脉病

目的分析2例合并脑出血伴有皮质下梗死和白质脑病的常染色体显性遗传性脑动脉病(cerebral autosomal dominant arteriopathy with the subcortical infarcts and leukoencephalopathy,CADASIL)的临床、影像学特征及危险因素。方法收集2例合并脑出血CADASIL患者的临床资料,并行常规头颅MRI、磁敏感加权成像(susceptibility-weighted imaging,SWI)扫描。结果 2例患者均伴有高血压、未接受抗栓药治疗。脑出血分别位于外囊和枕叶。2例患者均伴多发微出血灶(31个和131个)、多发腔隙、脑白质脱髓鞘。其中1例患者脑出血为首发症状,另1例患者伴认知功能减退。结论 CADASIL患者不仅表现为缺血性卒中,而且可合并脑出血,部分患者以脑出血为首发症状。应积极管理患者的血压。     

遗传性压力易感性周围神经病3例报告及文献复习

<正>遗传性压力易感性周围神经病(hereditary neuropathy with liability to pressure palsies, HNPP)是一种染色体17p11.2的杂合性缺失所致的常染色体显性遗传性疾病,多散发存在,以易受压部位周围神经损害为主要临床表现,临床症状多样,常易漏诊,基因检测可明确诊断。本文将从3个临床病例,结合既往文献报道对HNPP进行讨论。1 病例资料患者1,女性,16岁,长期习舞者;     

13例血液透析患者并发脑出血临床分析

目的探讨血液透析中患者并发脑出血的预防及诊治。方法对13例血液透析并发脑出血病例进行临床分析。结果6例好转,3例死亡,4例自动出院。结论血液透析患者、尤其是长期血液透析患者合并脑出血的死亡率极高,应当积极防治。     

脑出血并发消化道出血的血清皮质醇变化及临床意义

目的探讨脑出血急性期患者血清皮质醇水平与并发上消化道出血的关系及意义。方法采用放射免疫方法对216例脑出血急性期患者进行血清皮质醇测定。结果①216例脑出血急性期患者有174例(80·56%)血清皮质醇增高;2例血清皮质醇降低;②脑出血急性期并发消化道出血者57例,其中血清皮质醇增高者占93%;未并发消化道出血者159例,其中血清皮质醇增高者占75·5%。两组比较有显著性差异(P<0·01);③脑出血并发消化道出血者与未并发消化道出血者皮质醇水平比较有非常显著性差异(P<0·001)。结论脑出血急性期并发消化道出血患者血清皮质醇明显增高。血清皮质醇水平可做为脑出血急性期患者判断病情、指导治疗的重要指标。     

急性脑出血诱发全身炎症反应综合征致多器官功能障碍综合征的临床研究

目的　探讨急性脑出血并发全身炎症反应综合征 ( SIRS)致多器官功能障碍综合征 ( MODS)的可能机制 ,揭示 TNF- α、IL- 6在脑出血并发 SIRS及向 MODS转化机制中的作用及病理生理意义。方法　观察 73例急性脑出血患者并发 SIRS及 MODS的发生率 ;并应用双抗体夹心 ( EL ISA)法测定其血清 TNF-α、IL - 6的动态变化 ,并以 2 0名健康人作为对照。结果　脑出血时并发 SIRS的发生率为 4 7.95 % ( 35 /73) ,其中 74 .2 9% ( 2 6 /35 )诱导发生了MODS。单纯脑出血组、脑出血致 SIRS组及脑出血致 MODS组患者血清 TNF- α、IL- 6含量均明显高于正常对照组( P<0 .0 1) ,呈逐渐升高的趋势 ;并与病情的严重程度相关。结论　脑出血并发 SIRS是导致 MODS的主要机制 ,TNF-α、IL - 6参与了脑出血并发 SIRS及导致 MODS发生发展的病理生理过程 ,并具有很高的预警价值     

吡哆醇依赖性癫(癎)一例

吡哆醇依赖性癫(癎)(pyridoxine-dependent seizures,PDS)是一种少见的常染色体遗传性疾病,也是婴幼儿期发病的难治性癫(癎)之一.PDS发病率一般认为在1:500 000左右,但实际发病率很可能高于此比例,与很多临床病例未被明确诊断有关~([1]).我科诊断1例PDS患者,报道如下.     

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.     

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.     

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.     

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.     

Neonatal Seizures: Problems in Diagnosis and Classification

Summary: The clinical identification of neonatal seizures is critical for the recognition of brain dysfunction; however, diagnosis is often difficult because of the poorly organized and varied nature of these behaviors. Current classification systems are limited in their ability to communicate motor, autonomic, and electroencephalo-graphic features of seizures precisely and to provide a basis for uniform effective diagnosis, therapy, and determination of prognosis. Recent investigations of neonates, utilizing bedside electroencephalographic/polygraphic/ video monitoring techniques, have provided the basis for improved diagnosis and classification of seizures in the newborn. These studies have demonstrated that not all clinical phenomena currently considered to be seizures require electrocortical epileptiform activity for their initiation or elaboration. In addition, the specific clinical character of the phenomena considered to be seizures, the clinical state of the infant, and the character of the EEG indicate the probable pathophysiological mechanisms involved and suggest probable etiologies, prognosis, and therapy. Similarities between animal models that demonstrate reflex physiology and neonates with motor automatisms and tonic posturing suggest that these clinical behaviors may not be epileptic in origin but, rather, primitive movements of progression and posture mediated by brainstem mechanisms. Although not all clinical behaviors currently considered to be neonatal seizures may have similar pathophysiological mechanisms, they are clinically significant because they all indicate brain dysfunction.     

Valproate Monotherapy in the Management of Generalized and Partial Seizures

Summary: For decades, therapeutic tradition has promoted the concept of polypharmacy in the management of epilepsy. In recent years, however, studies have shown that, for most patients, monotherapy can provide comparable or better seizure control than administration of multiple anticonvulsants, while diminishing the potential for adverse reactions, drug interactions, and poor compliance. Valproate is an important monotherapeutic agent that is highly effective in the control of idiopathic primary and secondarily generalized epilepsies, and partial seizures that do not generalize. Comparative studies have found that valproate is at least as effective as phenytoin and carbamazepine in the treatment of generalized and partial seizures. Given the similar efficacy, other factors such as pharmacokinetics and side effects may therefore determine anticonvulsant selection for monotherapy.     

Un nouveau cadre conceptuel de travail pour la psychiatrie

In an attempt to place psychiatric thinking and the training of future psychiatrists more centrally into the context of modern biology, the author outlines the beginnings of a new intellectual framework for psychiatry that derives from current biological thinking about the relationship of mind to brain. The purpose of this framework is twofold. First, it is designed to emphasize that the professional requirements for future psychiatrists will demand a greater knowledge of the structure and functioning of the brain than is currently available in most training programs. Second, it is designed to illustrate that the unique domain which psychiatry occupies within academic medicine, the analysis of the interaction between social and biological determinants of behavior, can best be studied by also having a full understanding of the biological components of behavior.