颅内非典型畸胎瘤样/横纹肌样瘤1例报告并文献复习

目的探讨颅内非典型畸胎瘤样/横纹肌样瘤(AT/RT)的临床特点,诊断及治疗,提高对其认识水平。方法回顾性分析1例经病理和免疫组化诊断为颅内非典型畸胎瘤样/横纹肌样瘤患者的临床资料,并进行相关文献复习。结果患者主要表现头痛、头晕伴恶心,渐进性加重;MRI示病灶位于右侧岛叶。显微镜下手术切除肿瘤,免疫组化检查证实为颅内非典型畸胎瘤样/横纹肌样瘤。术后患者行放化疗,存活期12个月。结论颅内非典型畸胎瘤样/横纹肌样瘤高度恶性,极具侵袭性,生长迅速,预后极差,临床和影像学表现缺乏特异性;病理组织学改变是确诊的主要依据;采用以手术为主的个体化综合治疗是关键。     

儿童非典型畸胎瘤样/横纹肌样瘤15例诊治体会

目的总结儿童中枢神经系统非典型畸胎瘤样/横纹肌样瘤(atypical teratoid/rhabdoid tumor,AT/RT)的临床特征及预后,以提高大家对其的认识。方法通过回顾性分析我科近两年来收治的15例原发于儿童中枢神经系统AT/RT,详细分析其临床特征、影像学表现、病理学表现、手术治疗,并对其进行有效的随访,详细分析其预后。结果 15例患者均接受手术治疗,其中颅内13例,椎管内2例,手术全切除12例,次全切除3例,术后病理均证实为AT/RT。术后都得到有效随访,除1例椎管内AT/RT患者术后完成化疗后至今7个月仍未见肿瘤复发外,其余14例均在术后1个月至9个月不等死亡。结论 AT/RT好发于婴幼儿中枢神经系统,恶性度高,确诊有赖于病理,争取手术全切除结合术后放化疗是目前主要治疗方法,总体预后差。     

颅内非典型畸胎瘤样/横纹肌样瘤一例

目的探讨颅内非典型畸胎瘤样/横纹肌样瘤(AT/RT)的临床表现、影像学、组织病理学特点及其治疗和预后。方法报告一例颅内非典型畸胎瘤样/横纹肌样瘤病例临床资料,结合文献进行分析。结果颅内AT/RT是中枢神经系统罕见的高度恶性肿瘤,临床及影像学表现缺乏特异性,病理组织学改变是确诊的主要依据。结论 AT/RT是好发于儿童的颅内罕见恶性肿瘤,预后极差。免疫组化染色对确诊AT/RT十分重要。     

横纹肌样脑膜瘤的临床诊疗特征(附二例报道)

目的 分析并探讨横纹肌样脑膜瘤的临床诊疗特点及预后. 方法 回顾性分析广州医学院第二附属医院神经外科收治的2例横纹肌样脑膜瘤患者的临床资料,并复习相关文献报道. 结果 2例患者均行肉眼全切除(Simpson Ⅰ级),术后未行放化疗,随访期限分别为2年和2个月.第1例于术后第2年复发,因未行再次手术而死亡.另1例术后2月因颅内感染死于全身并发症. 结论 横纹肌样脑膜瘤术前诊断困难,手术为治疗的首选,术后常于短期内复发,患者预后不佳.     

儿童颅内非典型畸胎样/横纹肌样瘤2例并文献复习

目的探讨儿童颅内非典型畸胎样/横纹肌样瘤(AT/RT)诊断及治疗。方法回顾性分析2014年诊治的2例儿童颅内AT/RT的临床资料,并结合文献进行分析。结果 1例单发,手术全切,术后6个月复发,拒绝进一步放疗;1例多发,手术大部分切除,术后3 d死于癫痫持续状态。两例术后病理均为AT/RT。结论 AT/RT常见于低龄儿童,恶性程度高,术前影像学特点与髓母细胞瘤、原始神经外胚层肿瘤、室管膜瘤以及胶质瘤等相似,手术是重要治疗方法,但预后较差。     

成人鞍区非典型畸胎样/横纹肌样瘤一例

目的 总结成人鞍区非典型畸胎样/横纹肌样瘤(AT/RT)的临床及病理特征,提高该病的诊断和治疗水平。方法 回顾性分析阜阳市第二人民医院神经外科2019年7月收治的1例成年鞍区占位的手术及治疗过程。结果 行经鼻蝶显微镜下全切除肿瘤,术后第4天出现头痛症状,经CT检查证实肿瘤在术后1周内复发且肿瘤体积明显大于术前。术后病理报告显示肿瘤Ki-67(+),高达80%,仅提示鞍区恶性肿瘤;在术后第24天做出AT/RT(成人变异性)、INI-1缺失的病理诊断。结论 成人鞍区AT/RT为神经外科罕见疾病,临床及影像检查均无特异性,具有恶性程度高、术后生存期短等特点,目前尚未引起国内神经外科同道及病理学专家重视。     

儿童中枢神经系统非典型畸胎样/横纹肌样瘤研究进展

非典型畸胎样/横纹肌样瘤（atypical teratoid/rhabdoid tumor,AT/RT）是一种罕见且高度恶性的儿童中枢神经系统胚胎性肿瘤,其组织形态多变、恶性程度高、临床进展迅速,患儿预后不佳。AT/RT的发病机制涉及染色体和基因的突变,特别是SMARCB 1基因功能的丧失。AT/RT的诊断主要依赖于组织学及免疫组化检测。目前关于AT/RT的治疗方案尚无统一标准,主要包括手术、化疗、放疗等多模式治疗以及新兴的靶向治疗和免疫治疗。尽管近年来对AT/RT的研究和临床试验有所进展,但患儿预后仍然不佳,仍需进一步研究以制定更有效的治疗策略,以提高患儿的预后。     

非典型畸胎样/横纹肌样瘤七例报告并文献复习

目的 探讨非典型畸胎样/横纹肌样瘤的流行病学特点、发病机制、治疗以及预后.方法 回顾性分析2007年9月至2008年9月于首都医科大学附属天坛医院神经外科手术治疗的7例患者临床、影像和病理资料以及术后随访情况.结果 本组7例均手术切除肿瘤,1例术后放疗,2例术后放疗和化疗.6例患者死亡,术后平均生存期不超过4个月.存活的1例患者术后10个月肿瘤已复发.结论 非典型畸胎样/横纹肌样瘤是颅内罕见的高度恶性肿瘤,尽管采取了综合治疗措施,患者预后极差.     

中枢神经系统非典型畸胎瘤样/横纹肌样瘤的诊断和治疗现状

中枢神经系统非典型畸胎瘤样/横纹肌样瘤好发于婴幼儿后颅窝,其细胞形态学特征独特,肿瘤组织含有横纹肌样细胞、原始神经外胚层、上皮及间叶多向分化成分,染色体22q11.2上INI1肿瘤抑制基因缺失或突变是其分子生物学特征,结合影像学表现可准确诊断。AT/RT恶性度高,预后极差。目前,多采取以手术切除为主的综合治疗方法,未来研究的重点在于确定INI1功能并利用其进行有效干预性治疗。     

横纹肌样脑膜瘤诊断与显微手术治疗2例

目的分析并探讨横纹肌样脑膜瘤(rhabdoid meningioma,RM)的临床特点和治疗方法。方法回顾性分析2例横纹肌样脑膜瘤病人的临床资料,均采取显微镜下全切除(SimpsonⅠ级)。复习相关文献报道。结果病例1于术后行放疗,随访1年肿瘤复发。病例2术后未行放化疗,术后1个月复查脑室内多发转移,术后2个月死亡。结论横纹肌样脑膜瘤术前诊断困难,首选显微手术治疗,但预后不佳。     

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.     

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.