原发颅内Rosai-Dorfman病临床病理特点及文献复习

目的 探讨原发颅内Rosai-Dorfman病(RDD)的临床病理特征、诊断、鉴别诊断及治疗.方法 复习1例原发颅内RDD的临床病史、影像学资料、大体标本、HE染色及免疫组化标记,并回顾分析国内已报道的原发颅内RDD 19例.结果 中枢神经系统RDD好发于中年男性.光镜下病变呈"明暗"相间的组织学特征伴局部纤维化,在浆细胞和淋巴细胞组成的弥漫浸润背景中见散在分布吞噬完整淋巴细胞的组织细胞.免疫标记显示组织细胞表达S-100蛋白和CD68.结论 原发颅内RDD是一种少见的组织细胞异常增生性病变,因病变部位多样化、组织形态学特征不明显,临床易误诊或漏诊.诊断上应与富于淋巴细胞浆细胞性脑膜瘤、Langerhans组织细胞增生症、慢性炎症性病变及淋巴细胞性垂体炎等鉴别.对于单发病例,手术切除病变既是明确诊断的手段又是治疗方案.     

颅内原发Rosai-Dorfman病三例临床病理学观察

目的探讨颅内原发窦组织细胞增生伴巨大淋巴结病(Rosai-Dorfman病)的临床病理特征、免疫组织化学特点及鉴别诊断。方法收集南昌大学第一附属医院病理科2016年1月至2019年12月病理诊断为颅内Rosai-Dorfman病3例, 观察其临床特点、影像资料、病理学特点及免疫表型, 并复习相关的文献。结果原发于颅内的Rosai-Dorfman病3例, 均为男性, 年龄分别为37、44、55岁, 分别位于左侧颞枕部、右侧鞍旁、左颞叶, 镜下见组织细胞弥漫片状生长, 多量淋巴细胞、浆细胞灶片状聚集, 免疫组织化学示组织细胞S-100蛋白、CD68为阳性。结论原发于颅内的Rosai-Dorfman病较罕见, 临床特点及影像学检查缺乏特异性表现, 其诊断主要依据镜下的形态学特征及免疫组织化学。     

淋巴结外Rosai-Dorfman病7例临床病理分析

目的探讨淋巴结外Rosai-Dorfman病(Rosai-Dorfman disease,RDD)的临床病理特征、诊断及鉴别诊断。方法对7例结外RDD患者进行HE染色和免疫组化检查,并复习相关文献。结果 7例结外RDD患者中男性4例,女性3例,年龄21～57岁(平均41岁),4例位于中枢神经系统,胫骨、甲状软骨和皮下组织各1例,均为结外单发病变。组织学改变:病变组织在低倍镜下呈大小不一的不规则结节样结构,结节内"明暗"相间。高倍镜下"暗区"为浸润的淋巴细胞、浆细胞等;"明区"是散在、成簇或片状分布的组织细胞。后者体积大,胞质丰富,泡状核,可见小核仁。部分组织细胞胞质内见吞噬完整的淋巴细胞和浆细胞等("伸入"现象)。免疫表型:组织细胞S-100蛋白和CD68均阳性,CD1a阴性。结论结外RDD少见,因组织细胞吞噬现象不明显且临床及影像学特征缺乏特异性,易被误诊。结节状分布的结构特点以及低倍镜下明暗相间的组织学特征是诊断RDD的重要线索。免疫组化标记有助于明确诊断。     

Extranodal Rosai-Dorfman disease: a clinicopathologic analysis of 7 cases

目的 探讨淋巴结外Rosai-Dorfman病(Rosai-Dorfman disease,RDD)的临床病理特征、诊断及鉴别诊断.方法 对7例结外RDD患者进行HE染色和免疫组化检查,并复习相关文献.结果 7例结外RDD患者中男性4例,女性3例,年龄21～57岁(平均41岁),4例位于中枢神经系统,胫骨、甲状软骨和皮下组织各1例,均为结外单发病变.组织学改变:病变组织在低倍镜下呈大小不一的不规则结节样结构,结节内"明暗"相间.高倍镜下"暗区"为浸润的淋巴细胞、浆细胞等;"明区"是散在、成簇或片状分布的组织细胞.后者体积大,胞质丰富,泡状核,可见小核仁.部分组织细胞胞质内见吞噬完整的淋巴细胞和浆细胞等("伸入"现象).免疫表型:组织细胞S-100蛋白和CD68均阳性,CD1a阴性.结论 结外RDD少见,因组织细胞吞噬现象不明显且临床及影像学特征缺乏特异性,易被误诊.结节状分布的结构特点以及低倍镜下明暗相间的组织学特征是诊断RDD的重要线索.免疫组化标记有助于明确诊断.     

结外型Rosai-Dorfman病7例临床病理分析

目的 探讨Rosai-Dorfman病(Rosai-Dorfman disease,RDD)的临床病理学特征、诊断及鉴别诊断。方法 回顾性分析7例RDD临床病理学特征及免疫表型、诊断及鉴别诊断等,并复习相关文献。结果 RDD主要发病部位在颌面部、乳腺及皮下组织。镜下有大量淋巴细胞、浆细胞和组织细胞浸润;部分病例存在典型组织细胞吞噬现象,病变常有纤维组织、纤维母细胞和泡沫样组织细胞增生;病变可呈明暗区交替;还可见淋巴细胞和浆细胞围绕血管成靶环样。免疫表型:组织细胞中S-100、CD68均阳性,CD1a、IgG均阴性。7例患者中仅有2例复发。结论 结外型RDD见多量组织细胞增生和慢性炎细胞浸润,组织学缺乏典型伸入运动特征,易与郎格汉斯组织细胞增生症、结核和IgG4相关疾病混淆,需结合临床病史及免疫表型排除其他疾病后确诊。     

中枢神经系统Rosai-Dorfman病4例临床病理分析

目的探讨中枢神经系统Rosai-Dorfman病(Rosai-Dorfman disease,RDD)的临床病理特点、免疫表型、诊断及鉴别诊断、治疗及预后。方法回顾性分析2011年~2018年南京医科大学附属脑科医院诊治的4例中枢神经系统RDD的临床病理资料并复习相关文献,其中2例曾误诊为富于淋巴浆细胞型脑膜瘤。结果4例RDD中男性2例,女性2例,平均年龄48.75岁。镜下见病变组织细胞混合淋巴细胞、浆细胞成分呈结节状浸润,伴有纤维化或胶原化背景。组织细胞中可见典型的“伸入运动”,即胞质内可见吞噬的淋巴细胞、浆细胞及红细胞。免疫表型:组织细胞S-100、CD68、vimentin阳性,CD1a、BRAF V600E阴性,IgG4/IgG比值均<40%。结论中枢神经系统RDD是一种罕见的良性组织细胞增生性疾病,临床及影像常误诊为脑膜瘤。因此要提高对此类病变的认识,做出正确诊断,防止误诊。     

皮肤Rosai-Dorfman病

目的探讨皮肤Rosai-Dorfman病(CRDD)的临床病理学特征、免疫学表型和鉴别诊断。方法分析8例CRDD患者的临床表现,对标本进行病理学和免疫组织化学(EnVision二步法,抗体包括S-100蛋白、CD68、CD1a、CD45、CD20、CD79a、CD3和CD45RO)染色观察。结果8例患者临床皮损均为四肢或躯干多个丘疹、结节和(或)融合斑块,无淋巴结肿大等其他系统性病变。镜下特点为真皮和(或)皮下脂肪组织内数量不一的S-100蛋白阳性窦组织细胞伴大量淋巴细胞和浆细胞浸润。10％～50％组织细胞胞质内见淋巴细胞伸入。病程较长者病灶内见席纹样排列硬化性纤维间质,夹杂个别微脓疡形成。2例脉管间隙内可见窦组织细胞。结论CRDD是一种良性组织细胞持续增生性病变,与巨淋巴结病性窦组织细胞增生症不同,系统累及可能极小,预后较好。组织学上应避免与其他类型组织细胞增生症、真皮隆突性纤维肉瘤、黄色瘤及皮肤淋巴组织增生性病变等混淆。免疫组织化学S-100蛋白、CD68等标记对鉴别诊断有帮助。     

累及骨和软骨Rosai–Dorfman病2例报告并文献复习

目的:探讨2例累及骨和软骨的结外罗道(Rosai–Dorfman)病的临床病理特征、诊断及鉴别诊断。方法:复习分别位于右胫骨近端及甲状软骨的2例Rosai–Dorfman病患者的临床和影像学资料,行组织学观察及免疫组织化学分析,并复习相关文献。结果:39岁女性,右胫骨占位及38岁男性,甲状软骨肿物。影像学示前者右胫骨上段溶骨性骨质破坏;CT示后者甲状软骨前实性占位,与甲状软骨界限不清。光镜下前者病变在破碎骨小梁间生长,后者病变包绕并侵犯甲状软骨,并在软骨化骨骨小梁间侵袭性生长。低倍镜下组织细胞显著增生,与浸润的淋巴细胞、浆细胞形成明暗相间的结构,部分组织细胞体积较大,呈多边形或椭圆形;胞浆淡嗜酸性或空亮,泡状核,可见小核仁;部分胞浆内见吞噬完整的淋巴细胞和(或)浆细胞、中性粒细胞等。免疫组织化学标记组织细胞表达S–100蛋白和CD68,不表达CD1a。结论:累及骨和软骨的Rosai–Dorfman病罕见,临床及影像学检查均容易误诊。组织学形态及免疫组织化学检查是确诊的唯一依据。     

结外Rosai-Dorfman病临床病理特征分析

目的探讨结外Rosai-Dorfman病(Rosai-Dorfman disease, RDD)的临床病理学特征、诊断及鉴别诊断、治疗及预后。方法回顾性分析南京医科大学第一附属医院2014～2019年收治的16例结外RDD的临床和病理资料,并复习相关文献。结果 16例结外RDD中,男性10例,女性6例,年龄12～69岁,平均年龄46.6岁。发病部位:鼻腔鼻窦4例、乳腺2例、腰部及前臂皮肤2例、骨2例,腮腺、肩部皮下、颞部软组织、眼球巩膜、颊黏膜、额部脑膜各1例。镜检:可见大组织细胞、淋巴细胞和浆细胞弥漫片状分布,低倍镜下呈典型的明暗相间结构,大组织细胞内可见伸入现象,部分病例间质内可见显著的纤维结缔组织反应及席纹状排列结构。免疫表型:组织细胞中S-100、CD68和CD163均阳性,CKpan、CK8/18、CD1a、Langerin、CD30和ALK均阴性,Ki-67增殖指数为1%～10%;背景淋巴浆细胞表达各自相应标志物:CD3、CD20、CD45、CD38和CD138均阳性。8例患者获得随访资料,随访6～58个月,肿块切除后均未复发。结论结外RDD相对罕见,临床表现不具特异性,部分病例具有非典型组织学形态,易误诊。熟悉并掌握其较为广谱的临床病理学谱系并结合S-100蛋白染色可将其与其它类似病变相鉴别。     

上呼吸道结外Rosai-Dorfman病临床病理学观察

目的 探讨上呼吸道结外Rosai-Dorfman病的临床病理特征及鉴别诊断.方法 采用光镜及免疫组织化学LSAB法结合临床资料,对10例发生于上呼吸道的结外Rosai-Dorfman病进行临床病理学分析.结果 10例患者中,男性3例,女性7例,发病年龄20 ～61岁,平均38岁.肿瘤分别位于鼻腔鼻窦(7例)、鼻咽(2例)和硬腭气管(1例).患者多以鼻塞、鼻衄或鼻腔鼻咽新生物就诊.CT显示鼻腔鼻窦等相应部位占位性病变,无骨质破坏.组织学显示肿瘤由相互交错的淡染区与暗染区组成,淡染区见大圆形或多边形的组织细胞,部分组织细胞见吞噬现象;暗染区由聚集的淋巴细胞和浆细胞组成.免疫组织化学染色显示组织细胞弥漫强阳性表达S-100蛋白,部分表达CD68等.随访6例,经手术治疗均健在,无复发.结论 上呼吸道结外Rosai-Dorfman病较为少见,多发生于鼻腔鼻窦,形态学上易与鼻硬结病相混淆,常需免疫组织化学染色加以鉴别.     

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.     

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.     

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.     

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.