胚胎发育不良性神经上皮瘤的临床病理及影像学特征

目的探讨胚胎发育不良性神经上皮瘤（DNT）的临床病理特点及鉴别诊断。方法对9例DNT的临床表现、影像学特点、病理形态特征进行观察,并进行了免疫组织化学SP法检测。结果患者年龄范围12～51岁,平均32岁,大部分病例以癫痫小发作为主要临床表现,个别伴有一过性失语、失写、视力下降等,1例尢任何症状,仅在体检中发现。神经系统检查无运动和感觉缺损体征。病变部位均位于幕上结构,以皮层为主,影像学检查无瘤周水肿及占位效应。额叶4例,颞叶4例,额顶叶1例,2例呈囊性。病理组织学DNT分为两型：单纯型3例,复杂型6例。单纯型DNT肿瘤仅由神经胶质．神经元成分构成,周围有少突胶质细胞样细胞。复杂型DNT除了神经胶质．神经元成分和（或）局灶性皮层发育不良外,还具有其他低级别胶质瘤成分。结论DNT是一种良性肿瘤,手术效果良好,不易复发,复杂型DNT需与各种低级别胶质瘤相鉴别。     

胚胎发育不良性神经上皮瘤与皮质发育不良

目的观察胚胎发育不良性神经上皮瘤（DNT）的病理形态学及免疫组织化学特点,探讨其与皮质发育不良之间的关系以及组织来源。方法应用光镜和免疫组织化学EnVision法对14例DNT进行观察分析,并对患者进行长期随访。结果肿瘤位于颞叶的有11例,镜下由神经元和神经胶质成分混合构成,9例可见“特异的胶质神经元结构”。1例为简单型,8例为复杂型,5例为非特异型。11例标本充足的病例10例伴有皮质发育不良改变,表现为分子层和（或）白质内异位神经元数量增多（7例）,分子层内可见成行的外颗粒细胞层残留（4例）,脑皮质的结构异常（10例）,以及出现异常形态的神经细胞。免疫组织化学染色少突胶质样细胞（OLC）均呈现Olig2的免疫反应性,部分OLC表达nestin、微管相关蛋白2、神经丝蛋白、胶质纤维酸性蛋白,但神经元核抗原呈阴性。癫痫控制结果Ⅰ级12例,Ⅱ级2例,无肿瘤复发。结论DNT与皮质发育不良关系密切,应用免疫组织化学染色有助于DNT和皮质发育不良的诊断。     

7例胚胎发育不良性神经上皮瘤临床分析

目的 探讨胚胎发育不良性神经上皮瘤（DNT）的临床特点、病理、治疗和预后。方法 对我院收治的7例DNT就其诊断、影像学、病理、治疗等进行分析。结果 本组资料中男4例，女3例；年龄8—15岁，平均10．3岁；病程1—7年，平均3．3年。所有病例的癫痫发作类型均为部分性发作，其中4例部分性发作后继发大发作。6例位于颞叶，1例位于额叶。CT表现为低密度。在MRI上，T1表现为低信号，配表现为高信号；周围无水肿，病变无占位效应。增强后来见明显强化。5例行肿瘤切除，2例行颞叶切除。病理显示肿瘤呈胶冻状，瘤细胞主要由类似分化好的少突胶质细胞组成，瘤组织黏液变明显，有的区域呈网状微囊变。瘤组织内神经细胞散在分布，多分布于黏液丰富的微囊之内。在随访的7例患者中，未见肿瘤复发。行颞叶切除的2例中，无癫痫发作。行肿瘤切除的5例中，3例无发作，2例较术前有所减少。讨论 DNT为神经元和混合性神经元一神经胶质肿瘤，属WHO分级的Ⅰ级，是一种良性病变，全切肿瘤和肿瘤周围的癫痫灶，手术效果良好，无需放疗和化疗。     

胚胎发育不良性神经上皮瘤临床病理观察

目的研究胚胎发育不良性神经上皮瘤（DNT）的临床表现、影像学特点、病理组织学特征及治疗和预后。方法应用光镜、电镜及免疫组织化学染色方法（SP法）对18例DNT进行观察分析,并对其中14例进行了随访。结果患者年龄3～46岁,平均年龄22．8岁,男14例,女4例,主要症状为顽固性癫痫发作,术前癫痫病史最长达17年。MRI检查示病灶T1WI呈低信号,T2WI呈高信号,肿瘤周围无水肿及占位效应。18例肿瘤除2例位于小脑外,其余均位于大脑皮质。本组全切除者10例,大部切除者8例。随访14例,13例生存者中,生存1年4个月-11年,平均已生存5．5年,其中已生存10年以上者2例。术后无1例复发。肿瘤呈结节状分布于大脑或小脑的皮质内,部分累及白质。“特异性胶质神经元成分”为DNT病理形态学特征,是由不同比例的少突胶质细胞样细胞（OLC）、成熟神经元和星形细胞组成,肿瘤有明显的微囊变,单个神经元漂浮在微囊的黏液样基质中,本病多伴有肿瘤周围脑皮质发育不良。免疫组织化学染色示神经元及部分OLC突触素、神经微丝及S-100染色阳性,OLC胶质纤维酸性蛋白染色阴性。电镜示OLC有早期神经元分化、星形细胞分化及少突胶质细胞分化。结论DNT属良性肿瘤（WHOI级）,手术切除即可治愈。应结合临床表现、影像学及病理组织学和免疫组织化学结果确诊DNT。     

CD34在难治性癫痫相关脑肿瘤中的表达及鉴别诊断意义

目的 探讨CD34在难治性癫痫相关脑肿瘤中的表达情况及其在鉴别诊断中的应用价值.方法 应用免疫组织化学EnVision法检测CD34在54例难治性癫痫相关脑肿瘤中的表达情况,包括50例混合性神经元一胶质肿瘤和4例多形性黄色瘤型星形细胞瘤(PXA).其中前者包括2l例神经节细胞胶质瘤(GG),8例胚胎发育不良性神经上皮瘤(DNT)和21例组织学形态介于胶质神经元错构性病变和混合性神经元-胶质肿瘤之间具有过渡特征的病变.另外9例胶质瘤的表达情况作为对照,包括4例胶质母细胞瘤和5例混合性星形-少突胶质细胞瘤.结果 CDM在21例GG中的20例、8例DNT中的1例、21例具有过渡特点的混合性神经元-胶质肿瘤/病变中的16例及4例PXA中的3例的肿瘤区域为阳性;在伴有肿瘤周边组织的病例中,18例GG中的9例、18例具有过渡特点的混合性神经元-胶质肿瘤/病变中的6例及3例PXA中的1例的肿瘤周边组织为阳性,定位于胞质、胞膜和细胞突起.CD34仅在1例胶质母细胞瘤病变区域少数细胞呈阳性.CD34在不同类型肿瘤病变和周边脑组织区域表达方式不尽相同.结论 CD34在GG、PXA中阳性表达率高于DNT和对照组胶质瘤,对于诊断GG、PXA及与DNT、混合性星形-少突胶质细胞瘤、胶质母细胞瘤相鉴别具有一定的应用价值.     

胚胎发育不良性神经上皮瘤病理形态学观察

目的 探讨胚胎发育不良性神经上皮瘤(DNT)临床病理特点、诊断及与低级别胶质细胞瘤鉴别诊断。方法 对2例DNT和5例少枝细胞瘤进行光镜、免疫组化和特殊染色观察。结果 2种肿瘤组织形态类似，主要由类似分化好少枝细胞瘤样细胞构成。与少枝细胞瘤不同，DNT的组织学特点是瘤组织黏液变明显，多见网状微囊变。瘤组织间散在分布分化好的神经细胞，多位于黏液丰富的微囊内，如同浮蛙。分化的神经细胞及部分小细胞Syn阳性。肿瘤邻近的大脑皮质神经细胞层次有不同程度紊乱。结论隔DNT与低级别少枝胶质细胞瘤不易鉴别，DNT预后良好，只需手术切除即可，不需辅以有潜在危害的化疗或放疗。因此，两者的鉴别诊断具有重要的临床意义。     

中枢神经系统的胶质神经元肿瘤

中枢神经系统的胶质神经冗肿瘤是含有肿瘤性神经元和胶质两种成分的神经上皮肿瘤,但不包括可以向神经细胞和胶质双向分化的胚胎性肿瘤。胶质神经元肿瘤较少见,其中相对常见的是节细胞胶质瘤,而胚胎发育不良性神经上皮肿瘤、促纤维增生性婴儿节细胞胶质瘤以及近年来陆续报道的一些具有形态特点的新的胶质神经元肿瘤,如乳头状胶质神经元肿瘤和伴有神经毡样岛或菊形团的胶质神经元肿瘤,都是少见的类型。     

难治性癫痫相关脑肿瘤的临床病理学研究

目的 探讨难治性癫痫相关脑肿瘤的临床病理学特征.方法 选择 2005年1月至2008年4月期间在首都医科大学宣武医院接受难治性癫痫致痫灶手术切除治疗并经病理诊断为脑肿瘤患者的临床、影像以及病理学资料35例进行回顾性分析.结果 35例患者的癫痫平均发病年龄为14.3岁,平均病程8.6年,94.3%(33/35)的患者经头颅核磁共振(MRI)检查可见异常信号表现.组织学分型:神经节细胞胶质瘤19例(WHO Ⅰ级13例,WHOⅡ级6例),胚胎发育不良性神经上皮瘤3例(WHO Ⅰ级),多形性黄色瘤型星形细胞瘤3例(WHO Ⅱ级),弥漫性星形细胞瘤(WHO Ⅱ级)、少突星形细胞瘤(WHO Ⅱ级)、血管中心性胶质瘤(WHO Ⅰ级)和脑膜血管瘤病各1例,另有6例病变的组织学形态介于胶质神经元错构性病变和混合性神经元-胶质肿瘤之间.上述肿瘤多位于颞叶(27/35),多数同时伴有局灶性皮质发育不良的双重病理改变.免疫组织化学染色可见CD34显著表达于神经节细胞胶质瘤等病例.结论 表现为难治性癫痫的脑肿瘤多为位于颞叶且生长缓慢的混合性神经元-胶质肿瘤.观察到一组形态学上介于错构性病变和混合性神经元-胶质肿瘤之间的具有过渡特征的病变,这些错构性病变和肿瘤在组织形态学上体现的连续性以及良好的生物学行为提示了它们具有相同或相似的发生来源和发病机制,由此提出胶质神经元混合性病变的疾病谱概念.     

难治性癫痫患者脑组织中相关耐药蛋白表达情况的比较研究

目的探讨P-糖蛋白、多药耐药相关蛋白和穹隆主蛋白3种蛋白在难治性癫痫相关病变脑组织中的分布、表达部位及其在难治性癫痫发生过程中所发挥的作用。方法取18例难治性癫痫患者（包括局灶性皮质发育不良5例、结节性硬化3例、神经节细胞胶质瘤5例、胚胎发育不良性神经上皮瘤5例）致痫灶手术切除脑组织标本,利用针对上述3种蛋白的抗体进行免疫组织化学EnVision法染色。结果P-糖蛋白主要表达于病灶区域的毛细血管内皮细胞内,多药耐药相关蛋白的表达部位则主要为病灶区域内的神经元成分,而穹隆主蛋白在病变脑组织中的高度表达主要集中于毛细血管内皮细胞和气球细胞,另有部分神经元成分呈弱阳性表达。此外,P-糖蛋白和穹隆主蛋白在肿瘤性病变病灶区域毛细血管内皮细胞中的表达强于非肿瘤性病变,而在神经节细胞胶质瘤和胚胎发育不良性神经上皮瘤的肿瘤性胶质细胞中,多药耐药相关蛋白和穹隆主蛋白的表达情况也不尽相同。结论P-糖蛋白、多药耐药相关蛋白和穹隆主蛋白均参与了难治性癫痫的发生过程,其表达部位不同,作用机制各异。     

儿童多形性低级别神经上皮性肿瘤(PLNTY):一种具有少突胶质细胞瘤样形态的致癫痫性肿瘤,伴异常CD34表达及MAP激酶途径的基因改变

<正>影响儿童和青年人的致癫痫性肿瘤是一组形态多样的神经上皮性肿瘤,表现出不同程度的胶质和(或)神经元分化。近期分子分析技术的进步,包括全DNA测序及甲基化分析,能够应用于这些肿瘤更加精确的与生物学相关的分类。本文描述了一种独特的形态和分子特征的致癫痫性肿瘤——儿童多形性低级别神经上皮性肿瘤(PLNTY),该肿瘤可能占儿童少突胶质细胞瘤样肿瘤中的多数。该肿瘤最明显的镜下特征包括浸润性生长模式,不同比例的少突胶质细胞瘤样细胞成分,以及免疫组化标记CD34呈强阳性。此外,整合性分子谱系分析显示PLNTY具有独特的     

Renal dysplasia and asplenia in two sibs

A family is reported in which two sibs, one male and the other female, both died within 24 hours of birth with enlarged polycystic kidneys. Postmortem histology in the second child showed gross renal dysplasia. In both children the pancreas was enlarged, nodular and cystic but the liver appeared macroscopically normal. In the second child, histological examination confirmed pancreatic fibrosis with cystic dilation of ducts, but showed portal fibrosis with bile duct proliferation in the liver.
This combination of findings is very reminiscent of those in a girl and her brother reported by Ivemark et al. (1959). The children reported here also showed absence or hypoplasia of the spleen, cardiac anomalies and other features of the Ivemark syndrome (Ivemark 1955), a quite different, usually sporadic, congenital disorder. It is suggested that the children described here have a distinct lethal congenital disorder, probably inherited in an autosomal recessive manner.     

Schizophrenia in a North Swedish geographical isolate, 1900–1977. Epidemiology, genetics and biochemistry

Over 200 schizophrenic patients belonging to three major and interrelated pedigree complexes have been investigated over the past 30 years in a North Swedish geographically isolated population, presently numbering about 6,000. An intensive investigation of a number of biochemical correlates and genetic markers in a few selected families belonging to one of the major pedigrees has indicated new strategies for the current research program.
Schizophrenia, as defined operationally, is significantly associated with decreased activities of two enzymes (1) blood platelet monoamine oxidase, (2) plasma dopamine-β-hydroxylase, and (3) with the genetic marker Gc² (group specific antigen). Both enzymes are subject to genetic variation. A positive score for linkage between schizophrenia and low plasma DBH activity has been calculated, but, so far, available data are insufficient for discrimination between linkage and partial contribution of genetically controlled low plasma DBH to the pathogenesis of the disease. Alternatively, both mechanisms could be involved.
As a model for continued research, schizophrenia is explained as based on a double dominant-recessive genotype (Aabb), representing a vulnerability which in about 50 % of cases develops into clinical schizophrenia. It is suggested that the dominant mutation (A) operates on or affects MAO activity, and that the recessive genotype (bb) is instrumental in low variates of DBH activity and very likely such variates within the normal range of physiological variation. Moreover, it is suggested that the combined effects of MAO- and DBH-reduced efficiency on the metabolism of e.g. dopamine could be an essential pathogenic mechanism for the schizophrenic illness which is segregating in this population.     

The dominant diseases of modernized societies as omega-3 essential fatty acid deficiency syndrome: Substrate beriberi

About 1900, modern food selection and processing caused widespread $\text{epidemics}$ of the B vitamin deficiency diseases of beriberi and pellagra which, for genetic reasons, often expressed as different diseases ranging from bowel and heart disease to dermatoses and psychoses. But the B vitamins merely help convert essential fatty acids (EFA) into the prostaglandin (PG) tissue regulators and it now turns out that, through hydrogenation, milling and selection of w3-poor southern foods, we have also been systematically depleting, by as much as 90%, a newly discovered trace Nordic EFA (w3) of special importance to primates and sole precursor of the PG3(4) series, even as a concurrent fiber deficiency increases body demand for EFA. Since substrate EFA is processed by many B vitamin catalysts, an EFA deficiency will mimic a $\text{panh}$ypovitaminosis B, i.e., a mixture of $\text{substrate}$ beriberi and $\text{substrate}$ pellagra resembling vitamin beriberi and pellagra but exhibiting as even more diverse $\text{endemic}$ disease. This would consitute a second stage of the Modern Malnutrition and explain why some workers now hold the dominant diseases of modermized societies to be new, nutritionally based, pellagraform yet lipid-related and to range, once again, from heart disease to psychosis. It is an assumption that our dominant diseases are unrelated to each other or are merely revealed by our diagnostic acumen and therapeutic success; and that hydrogenating millions of tons of food oils annually, to destroy the rancidity producing w3-EFA, is safe for $\text{primates}$. Extensive beriberiform disease is reported here in 32 typical cases taken from medical practice which responds strikingly to linseed oil supplements (60% w3-EFA) in confirmation of identical results in Capuchins.     

What will studies of Fulani individuals naturally exposed to malaria teach us about protective immunity to malaria?

There are an estimated over 200 million yearly cases of malaria worldwide. Despite concerted international effort to combat the disease, it still causes approximately half a million deaths every year, the majority of which are young children with Plasmodium falciparum infection in sub-Saharan Africa. Successes are largely attributed to malaria prevention strategies, such as insecticide-treated mosquito nets and indoor spraying, as well as improved access to existing treatments. One important hurdle to new approaches for the treatment and prevention of malaria is our limited understanding of the biology of Plasmodium infection and its complex interaction with the immune system of its human host. Therefore, the elimination of malaria in Africa not only relies on existing tools to reduce malaria burden, but also requires fundamental research to develop innovative approaches. Here, we summarize our discoveries from investigations of ethnic groups of West Africa who have different susceptibility to malaria.     

'Very sore nights and days': the child's experience of illness in early modern England, c.1580-1720

Sick children were ubiquitous in early modern England, and yet they have received very little attention from historians. Taking the elusive perspective of the child, this article explores the physical, emotional, and spiritual experience of illness in England between approximately 1580 and 1720. What was it like being ill and suffering pain? How did the young respond emotionally to the anticipation of death? It is argued that children’s experiences were characterised by profound ambivalence: illness could be terrifying and distressing, but also a source of emotional and spiritual fulfilment and joy. This interpretation challenges the common assumption amongst medical historians that the experiences of early modern patients were utterly miserable. It also sheds light on children’s emotional feelings for their parents, a subject often overlooked in the historiography of childhood. The primary sources used in this article include diaries, autobiographies, letters, the biographies of pious children, printed possession cases, doctors’ casebooks, and theological treatises concerning the afterlife.     

Guidelines for the Validation and Use of Immunoassays for Determination of Introduced Proteins in Biotechnology Enhanced Crops and Derived Food Ingredients

Recent advancements in agricultural biotechnology have created a need for analytical techniques to determine introduced proteins in crops enhanced through modern biotechnology techniques. These proteins are expressed in plant tissues and may be present in food ingredients. Immunoassays are ideally suited for protein detection and may be used as both quantitative and threshold methods. Microplate ELISA and lateral flow devices are two of the most commonly used immunoassay formats for agricultural biotechnology applications. This paper provides general background information and a discussion of criteria for the validation and application of immunochemical methods to the analysis of proteins introduced into plants and food ingredients using biotechnology methods. It is the result of a collaborative effort of members of the Analytical Environmental Immunochemical Consortium. This collaborative effort represents the combined expertise of several organizations to reach consensus on establishing guidelines for the validation and use of immunoassays. Further, the paper offers developers and users a consistent approach to adopting the technology as well as aid in producing accurate and meaningful results.     

HLA in North Colombia Chimila Amerindians

HLA-A,-B,-C,-DRB1 and -DQB1 alleles have been studied in Chimila Amerindians from Sabana de San Angel (North Colombian Coast) by using high resolution molecular typing. A frequent extended haplotype was found:HLA-A*24:02-B*51:10-C*15:02-BRB1*04:07-DQB1*03:02 (28.7%) which has also been described in Amerinndian Mayos Mexican population (Mexico, California Gulf, Pacific Ocean). Other haplotypes had already been found in Amerindians from Mexico (Pacific and Atlantic Coast), Peru (highlands and Amazon Basin), Bolivia and North USA. A geographic pattern according to HLA allele or haplotype frequencies is lacking in Amerindians, as already known. Also, five new extended haplotypes were found in Chimila Amerindians. Their HLA-A*24:02 high frequencies characteristic is shared with aboriginal populations of Taiwan; also, HLA-C*01:02 high frequencies are found in New Zealand Maoris, New Caledonians and Kimberly Aborigines from Australia. Finally, this study may show a model of evolutionary factors acting and rising one HLA allele frequency (-A*24:02), but not in others that belong to the same or different HLA loci.     

Ultracryotomy: development and application (with examples from the yeast cytology) (author's transl)

The preparation steps usually necessary for obtaining ultrathin frozen sections of biological material (chemical prefixation, enclosing, cryoprotective treatment, freezing, sectioning, and post-staining the sections for transmission electron microscopy) are submitted to a critical analysis. The application of cryo-ultramicrotomy, in particularly for cytochemical purposes, is reviewed. Fundamental considerations of chemical prefixation and poststaining are supported by examples from yeast cytology. Furthermore, the efficiency of the cryo-ultramicrotomy (electron optical resolution of ultrastructural details) is demonstrated on yeast cells and protoplasts.     

The universal muscular chamber. A basic unit of the genitourinary, cardiovascular, gastro-intestinal, skeletal, cutaneous, respiratory and other systems, endocameral hypertension; and spasm, the key to their idiopathic diseases and arthropathies

Starting with the integument, we see many organs are contractile sacs or multiples thereof, which tubes or bags constitute the major part of the entire body. Recognition of this basic unit and its characteristics sheds new light, individually and collectively, on many disorders previously considered unrelated. Muscular tears and perforations develop in the walls of these chambers, being no way peculiar to those organs, wherein, hydrochloric acid occurs. So, it is not necessary to explain the absence of excessive acid from patients who exhibit holes in the gastric, uterine, aortic, duodenal, rectal, pulmonary, retina, and other walls. Muscle, not acid is the great common factor relating idiopathic disorders in the gastrointestinal tract to each other and to similar diseases in other systems. When the units are linked together, the lesions tend to appear as arthropathies, i.e. at the joints. Rephrasing common-place observations, frees us from conventional, conceptual cul-de-sacs. An observation is only as good as its interpretation, so all possibilities must be considered, otherwise, we will remain blinded by our misconceptions.