无创DNA检测在产前筛查唐氏综合征中的准确性

目的探讨无创产前检测(non-invasiveprenatal testing,NIPT)在孕妇产前筛查唐氏综合征(Downsyndrome,DS)中的普及应用。方法通过采集孕妇外周血,提取胎儿游离DNA,结合生物信息进行比对分析,最终得出胎儿染色体异常的风险率,DS高危的孕妇再行羊膜腔穿刺术进行胎儿染色体核型分析。结果 1 648例孕妇中共检测出8例DS高风险胎儿,阳性率占0.485%(8/1648),经羊水染色体核型分析证实8例为DS,NIPT用于孕妇检测DS胎儿的敏感性为100%,特异性100%。NIPT还检测出5例18-三体染色体高风险,2例性染色体异常(1例45,X0;1例47,×××)均行羊水穿刺术,7例全部确诊胎儿染色体核型异常。NIPT应用于1648例孕妇产前检测,其中共有15例进行有创性产前诊断,穿刺率为0.91%。结论 NIPT用于孕妇检测DS胎儿具有高敏感性和特异性。     

染色体异常所致精神障碍

染色体异常所致精神障碍 ,在CCMD 3中被列入器质性精神障碍 ,编码为 0 3.6 [1] 。此症在精神医学相关书籍中所叙甚简 ,本文拟就作者多年的观察和研究概述如下。1　染色体异常及其分类人类正常染色体核型为双倍体 ,2 3对 ,4 6条。其中 2 2对为常染色体 ,1对为性染色体 ,即男性为4 6 ,XY ,女性为 4 6 ,XX。染色体异常包括 :染色体数目的增加或减少和染色体某部分缺失、重复、倒位与易位等。大约 5 0 %的人类受精卵中的染色体显示异常。但是 ,其中大部分导致自然流产 ,能发育成活婴儿的染色体异常者约占 1/ 2 0 0 ,其中涉及常染色体或性染…     

183例儿童继发性癫痫病因分析

目的　研究遗传因素与环境因素在儿童继发性癫痫中的作用。　　方法　用染色体检查、头部CT、脑或周围神经活检病理超微结构等研究 ,将 1 83例继发性癫痫患儿分成遗传性疾病及非遗传性疾病组作对照分析。　　结果　遗传性疾病 70例 ( 38 3% ) ,遗传方式为AD、AR、XL及染色体异常 ;诊断分为 3大类 (单基因病 ,染色体病及家族性癫痫 ) ,以神经皮肤综合征最多见 ( 2 7例 ,38 6% ) ;围产期及产后因素两组差异有极显著性。　　结论　遗传性疾病是儿童继发性癫痫的重要原因 ;围产期及产后因素是引起本病的危险因素。     

精神障碍患者的细胞遗传学研究

目的:探讨精神障碍患者中性染色质和性染色体的异常. 方法:随机检测2 784例各类精神障碍患者口腔颊粘膜上皮细胞的性染色质,异常者再查外周血染色体核型.以1 069例正常者作对照. 结果:男性Y染色质频率(28.0±6.6)%和女性X染色质频率(22.3±8.0)%均明显高于对照组(P<0.01),女性X染色质频率精神分裂症和情感性精神障碍亚组均高于神经症和心因性精神障碍亚组. 结论:性染色质频率增高可能同精神障碍遗传倾向的大小有密切关系,精神障碍患者中男性多1条X染色体和女性少1条X染色体的比率增高.     

意识障碍患者并发深静脉血栓的护理

深静脉血栓形成(deep vein thrombosis,DVT)临床上并不少见,其中以下肢深静脉血栓最为常见,约占深静脉血栓的90%以上,而神经外科手术后DVT的发病率在24%左右[1]。DVT是病死率极高的肺动脉栓塞(pul monary embol-ism,PE)的基础疾病,故预防DVT的发生显得非常重要。本文就将发生DVT护理体会综述如下。1临床资料我院神经外科自2003-08~2006-09收治意识障碍患者中并发DVT13例,男7例,女6例,年龄19~81岁,平均50岁。自发脑出血5例,重型颅脑损伤8例,发生DVT时间为16d~3个月,其中9例患者昏迷,4例颅脑损伤后智能障碍,均无疼痛主诉。患者临床…     

小儿神经系统疾病住院患儿营养状况分析

目的调查小儿神经系统疾病住院患儿的营养风险情况,为临床医师对其进行早期的临床干预提供依据。方法通过对2019-05―2019-09福建医科大学附属第一医院儿内科130例小儿神经系统疾病住院患者进行营养风险筛查,分析该系统疾病住院患儿的营养风险状况。结果 130例神经系统疾病住院患儿存在不同程度的营养风险,13例患儿存在营养不良,占10%。STRONGkids评分显示,92例患儿存在低营养风险;38例患儿存在中高风险,其中癫痫16例(42.1%),颅内感染10例(26.3%),热性惊厥7例(18.4%)。结论小儿神经系统疾病住院患者检出营养风险的几率较高,相比于6岁以上的患儿,6岁以下患儿发生中高度营养不良风险升高,且以1岁以内的患儿营养风险发生率最高,进行早期的营养风险筛查十分必要。     

精神疾病的遗传（一） 精神障碍患者的细胞遗传学研究

目的 :探讨精神障碍患者中性染色质和性染色体的异常。　方法 :随机检测 2 784例各类精神障碍患者口腔颊粘膜上皮细胞的性染色质 ,异常者再查外周血染色体核型。以 10 69例正常者作对照。　结果 :男性 Y染色质频率 ( 2 8.0± 6.6) %和女性 X染色质频率 ( 2 2 .3± 8.0 ) %均明显高于对照组 ( P<0 .0 1) ,女性 X染色质频率精神分裂症和情感性精神障碍亚组均高于神经症和心因性精神障碍亚组。　结论 :性染色质频率增高可能同精神障碍遗传倾向的大小有密切关系 ,精神障碍患者中男性多 1条 X染色体和女性少 1条 X染色体的比率增高     

合并缺血性卒中的特纳综合征1例

特纳综合征也称先天性卵巢发育不全,是女性常见的染色体异常疾病之一,通常表现为代谢或生殖系统症状,多表现为身材矮小、性腺发育不全、甲状腺功能减退和心脏缺陷等^[1-3],但表现为卒中症状的患者非常少见。现报道一例合并缺血性卒中的特纳综合征。     

急性脑出血伴血糖升高的临床分析

急性脑出血疾病为内科常见的急危重症,在我国,脑出血性疾病占全部卒中患者的20%~30%,急性期病死率在30%~40%之间,即使存活的患者也有超过30%存在功能障碍,已严重影响中老年人的健康[1,2]。影响脑出血疾病发生发展与预后的原因很多,血糖因素不容忽视。笔者观察了血糖异常对脑出血疾病患者病情程度及预后的影响,结果如下。1一般资料本文观察了128例患者,均为2003年8月15日~2006年3月10日我院住院患者。其中男75例,女53例,年龄最小42岁,最大76岁,平均58.6±10.2岁,均经CT扫描示脑内出血病灶,其中基底节区60例,丘脑31例,脑干区9例,小脑7例,脑叶…     

精神发育迟滞患者的染色体分析

为探讨精神发育迟滞患者在细胞遗传方面的病因，在常规４００条带阶段染色体分析的基础上，采用了５５０～８５０条带阶段染色体高分辨和脆性检测技术，并增加分裂相分析数的方法，对２９８例精神发育迟滞患者进行检测。检出染色体异常１４６例，其中常染色体数目异常８２例（５６．２％），结构异常１７例（１１．６％）；性染色体数目异常２８例（１９．２％），结构异常１９例（１３．０％），染色体异常检出率（４９．０％）显著提高。作者认为，染色体分析应列为精神发育迟滞病因诊断中的常规检查项目。     

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.     

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.     

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.     

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.     

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.     

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.     

Special Pharmacokinetic Considerations in Children

Summary: Pediatric patients have greater degrees of pharmacokinetic variability and unpredictability than adults. This variability results from the effects of pharmacogenetics, age and growth, prior and current comedication, and disease. Newborns with seizures have the least predictable dosage requirements, and their needs change as drug-eliminating mechanisms mature in the neonatal period. Infants have the highest relative capacities to eliminate antiepileptics of any age group and require the largest relative doses. In addition to age-related trends, children demonstrate the same drug-specific, pharmacokinetic phenomena that adults do, including nonlinear phenytoin elimination, nonlinear valproate binding, and autoinduction of carbamazepine. Intercurrent illness and drug interactions further modify the age-related pharmacokinetic patterns in children and make dosage requirements even more unpredictable. Recent studies have shown that febrile illness can affect drug elimination, sometimes decreasing drug levels by 50% or more. Intermittent treatment with benzodiazepines administered either orally or rectally can be an important adjunct and help minimize this type of problem for children with marginally controlled epilepsy. Intermittent benzodiazepines are also helpful for children who have febrile seizures and who need only occasional antiepileptic protection.