松果体区非生殖细胞瘤性恶性生殖细胞肿瘤的治疗

目的 探讨松果体区非生殖细胞瘤性恶性生殖细胞肿瘤(NGMGCTs)的临床特点、治疗和预后.方法 回顾性分析了2000年1月至2010年1月经病理证实的34例高度恶性NGMGCTs 患者的临床特点、血清肿瘤标记物检测、治疗方法及预后.所有患者均行枕部经小脑幕(Poopen)入路显微手术切除肿瘤,并行辅助放化疗.结果 全切除32例,近全切除2例,术后病理示未成熟畸胎瘤11例,畸胎瘤恶性变2例,胚胎癌2例,卵黄囊瘤l例,绒毛膜上皮癌6例,混合性生殖细胞肿瘤12例.共随访31例患者,随访时间6个月至10年,1年生存率为97％,3年生存率为62％,5年生存率为44％.结论 多数松果体区NGMGCTs根据临床表现、影像学资料和肿瘤标记物可在术前定性,以手术为主术后辅以化疗和放疗的综合治疗可以获得良好疗效.     

松果体区混合性生殖细胞肿瘤临床与病理分析

目的 总结松果体区混合性生殖细胞肿瘤的临床特点、病理组织学构成,并探讨其相关的治疗策略.方法 对经手术切除,且病理检查详尽的14例松果体区混合性生殖细胞肿瘤进行回顾性分析.结果 14例均为男性,平均年龄17.3岁.其中13例包含生殖细胞瘤,其他成分即可能是单一的成熟畸胎瘤,也可能是多种高度恶性的生殖细胞肿瘤.血清肿瘤标志物升高基本反映了肿瘤中包含有相应的肿瘤成分.结论 松果体区混合性生殖细胞肿瘤临床表现无明显特殊.肿瘤大多包含有生殖细胞瘤成分,术前全面准确的定性诊断困难.先手术切除肿瘤以获取完整的病理诊断,而后采取针对性综合治疗似乎更合理.当血清肿瘤标志物正常,且影像学上肿瘤密度或信号混杂时,“试验性”放疗应慎重.     

预后不良组颅内原发性生殖细胞肿瘤的综合治疗

在颅内原发性生殖细胞肿瘤中,以胚胎癌、卵黄囊肿瘤、绒毛膜细胞癌为主要成分者呈高度恶性,被归为预后不良组.肿瘤标志物甲胎球蛋白(AFP)和人绒毛膜促性腺激素(HCG)的检测对本组肿瘤的诊断和治疗选择具有指导价值.本文就如何合理安排手术、放疗、化疗,提高疗效,改善预后进行综述.     

Mdm2和p53基因在颅内非生殖细胞瘤性生殖细胞肿瘤中的表达意义

目的 研究鼠双微基因2(mdm2)基因和p53基因在颅内非生殖细胞瘤性生殖细胞肿瘤患者(NGGCTs)中的表达及意义. 方法 利用半定量RT-PCR技术检测了15例NGGCTs肿瘤(成熟畸胎瘤6例,未成熟畸胎瘤5例,卵黄囊瘤2例,绒毛膜上皮癌2例)中mdm2和p53 mRNA的表达,并与正常人群进行比较,另外检测p53基因5～8外显子的突变情况.结果 p53和mdm2mRNA在各类NGGCTs中均有较高水平表达,与正常对照组比较差异有统计学意义(P=0.000);p53mRNA在各类肿瘤中表达强度差异无统计学意义(P=0.056);mdm2基因在非生殖细胞瘤性恶性生殖细胞肿瘤(NGMGCTs)中表达强度较成熟畸胎瘤高,差异有统计学意义(P=0.000);mdm2和p53mRNA的表达强度无显著相关性(r=0.418,P=0.121);15例NGGCTs肿瘤均未检测到p53基因的突变.结论 mdm2基因异常表达与NGMGCTs肿瘤关系密切,p53基因突变并非NGGCTs形成的主要原因,mdm2和p53之间相互作用共同影响NGGCTs肿瘤的发生发展过程.     

儿童鞍区恶性混合性生殖细胞肿瘤1例报告并文献复习

目的探讨颅内生殖细胞瘤(intracranial germ cell tumors,ICGCTs)的临床表现、诊断方法和治疗方案。方法回顾性分析南京医科大学第一附属医院收治的1例鞍区混合性生殖细胞肿瘤患者的临床资料,并复习相关文献。结果本例患者临床表现为多饮、多尿、视物模糊、视野变窄;垂体MRI检查示鞍区及鞍上区见类圆形混杂信号影;行颅底肿瘤切除术;术后病理检查证实为恶性混合性生殖细胞肿瘤(绒毛膜癌+生殖细胞瘤)。患者术后1个月开始辅助放疗,现已放疗结束,累积放疗剂量DT 40 Gy/20 f。随访3个月,患者症状明显好转。结论 ICGCTs症状随部位不同而有所不同,瘤标、诊断性放化疗在其诊断中具有重要作用,治疗方案视组织类型而定,单纯生殖细胞瘤的预后较好。     

颅内生殖细胞肿瘤的免疫组织化学研究

目的：探讨各种颅内生殖细胞肿瘤中免疫组织化学染色的诊断意义。方法：对７６例颅内生殖细胞肿瘤进行５种抗体的免疫组织化学染色。结果：胎盘碱性磷酸酶（ＰＬＡＰ）阳性率８２％（６２／７６），绒毛膜促性腺激素（ＨＣＧ）阳性率３０％（２３／７６），胎盘催乳素（ＨＰＬ）仅占５％（４／７６），甲胎蛋白（ＡＦＰ）和妊娠特异性β１糖蛋白（ＳＰ１）在卵黄囊癌中阳性率１００％（５／５）。结论：ＰＬＡＰ可用于生殖细胞肿瘤与其他肿瘤鉴别诊断。ＡＦＰ和ＳＰ１可检出畸胎瘤中不易察觉的卵黄囊癌成分。ＳＰ１阳性可能提示肿瘤恶性程度高，预后差。     

中枢神经系统生殖细胞肿瘤11例临床分析

目的总结中枢神经系统生殖细胞肿瘤临床表现、检查和治疗特点。方法1997年至2007年共治疗11例，治疗方法有手术、放射治疗和化学治疗。结果术后单纯放疗7例有效率为71．43％。术后放疗结合化疗9例有效率为88．89％。结论手术联合化疗和放疗的综合性治疗可提高中枢神经系统生殖细胞肿瘤的疗效。     

手术切除结合术后间质内放化疗治疗脑恶性胶质瘤

目的 探讨脑恶性胶质瘤切除术后结合间质内放疗并间质内化疗的临床疗效.方法 32例脑恶性胶质瘤均行显微神经外科手术全切除或次全切除,术中根据术前计算机三维治疗计划系统（TPS）在瘤床上植入^125 I放射性粒子行组织间持续内照射,总量为50～60 Gy,同时于瘤腔内放置Ommagy化疗囊,术后1周开始应用盐酸尼莫司汀（ACNU）行间质化疗,每周1次,连续6周.随访观察肿瘤复发率、患者生存率、中位生存期.结果 32例患者1、2年复发率分别为31.2%、68.8%,1、2、5年生存率分别为94.3%、80.6%、29.1%,中位生存期为92.3周;无明显放疗、化疗并发症.结论 在手术力争全切除肿瘤基础上结合术后间质内放疗、化疗治疗脑恶性胶质瘤,疗效较好,安全而且并发症少.     

儿童幕上原始神经外胚层肿瘤

目的 探讨儿童幕上原始神经外胚层肿瘤(ST-PNET)的临床特征、治疗策略和预后.方法 回顾性分析2001年6月至2006年12月问12例经组织病理学证实的儿童ST-PNET的临床资料,并进行随访.结果 男性6例,女性6例,平均年龄6.5岁.8例为脑内肿瘤,4例为脑外肿瘤.11例患者获得随访,随访时间11个月至5年,死亡10例的术后平均生存时间:未放化疗(3例)、单独放疗(3例)、放疗或加化疗(7例)分别为5.0,21.7和23.3个月,后者的3年生存率为14.3%.结论 儿童ST-PNET少见,影像学和免疫组织化学分析有助于诊断.治疗应以手术切除加放疗为主,辅助化疗,但预后极差.     

松果体区肿瘤的显微手术及内镜辅助作用

目的 探讨显微手术治疗松果体区肿瘤的手术入路和技术以及内镜的辅助作用.方法 采用显微手术技术通过幕下小脑上入路切除10例松果体区肿瘤,其中内镜辅助手术5例;病理结果：生殖细胞瘤5例、混合性生殖细胞肿瘤3例（生殖细胞瘤合并恶性畸胎瘤1例,合并胚胎癌2例）、脑膜瘤和成熟畸胎瘤各1例;1例术后脑积水行第三脑室底造瘘术,1例术前行第三脑室底造瘘.结果 所有病例全切肿瘤.术后早期结果全部良好,随访1个月～7年良好8例,死亡2例.结论 松果体区肿瘤手术难度较大,但选择适合的手术入路和熟练的显微手术技术加上内镜的辅助可以取得满意的疗效.     

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.