小儿Alport综合征的临床病理分析

目的:探讨小儿遗传性肾炎(Alport's syndrome,AS)的临床病理尤其是超微病理特征和鉴别诊断.方法:收集我科小儿肾活检标本820例,对其中诊断为AS的7例肾活检进行了光镜、特殊染色(PAS、PASM和Masson染色)、免疫组化(IgA、IgM、IgG和补体C3)和电镜的系统观察,着重对其超微病理进行了详尽的观测, 并结合临床病史进行了分析.结果:7例小儿AS的肾活检光镜下主要表现为局灶性系膜细胞增生, 间质有泡沫细胞形成.电镜下小球基膜可见增厚、变薄及两者相间改变,见特征性的基膜板层状分裂、蓝编状及花纹状改变,其内常有圆形的微粒,小球内未见电子致密物沉着,免疫组化小球内未见明确的免疫复合物沉着.结论:电镜是诊断AS的重要手段,AS的诊断主要通过电镜,但必须强调要与常规的病理组织学、免疫组化,尤其是临床病史紧密结合方可确诊.     

小儿肾小球薄基膜病的临床病理研究

目的 :探讨小儿肾小球薄基膜病 (TBMN)的临床病理特征。方法 :对 11例TBMN患儿进行了临床、病理及超微结构的系统观察 ,测量了肾小球基膜 (GBM)及致密层的厚度 ,对小儿薄基膜病的临床病理特征进行了分析。结果 :11例小儿TBMN临床主要表现为单纯血尿 ,无其它明显的阳性体征 ,光镜下肾小球无明显改变或轻微异常 ,未见蛋白管型 ,包曼囊内及肾小管腔内可见渗出的红细胞 ,电镜下GBM广泛变薄 ,平均厚度 <2 0 0nm ,致密层厚度 <10 0nm。结论 :小儿肾小球薄基膜病的诊断主要依靠电镜 ,同时必须强调与临床病史、生化检查及病理组织学、免疫组化紧密结合方可确诊。     

IgA肾病肾组织纤连蛋白的表达

目的：探讨肾组织纤连蛋白的表达在ＩｇＡ肾病（ＩｇＡＮ）进展中的病理学及临床意义。方法：运用Ｓ－Ｐ法对６０例ＩｇＡＮ的肾活检标本进行纤连蛋白（ＦＮ）、增殖细胞核抗原（ＰＣＮＡ）的免疫组化染色，并与肾小球及肾小管间质损伤程度相对照，进行统计学处理。结果：肾小球系膜区ＦＮ与系膜细胞增生、肾小球损伤程度及肾小管间质损伤程度均呈正相关。基膜ＦＮ的出现与基膜内皮下沉着物、肾小球损伤程度及肾小管间质损伤程度均密切相关。结论：肾小球系膜区ＦＮ可作为肾活检组织病理中肾小球系膜的标志，尤其是基膜ＦＮ的聚集增多，是判断ＩｇＡＮ进展和预后不良的可靠指标     

妊娠相关性肾病9例临床病理分析

目的 探讨妊娠相关性肾病的病理形态特点。方法 观察9例妊娠性肾病肾穿活检组织的病理形态（光镜、特殊染色、免疫组化、电镜）及临床资料分析。结果 患者肾损害症状均出现在妊娠24周以后。肾小球毛细血管内皮细胞肿胀,血管袢缺血及管壁呈“双轨”样结构;各种免疫球蛋白、补体及纤维蛋白原在肾小球内有不同程度的沉积,其中C4c在血管袢沉积呈一致性阳性;电镜观察见肾小球毛细血管内皮细胞及足细胞肿胀,基膜肿胀、疏松,电子致密物少。结论肾小球毛细血管内皮细胞肿胀、管壁“双轨”样结构、C4c沿毛细血管壁沉积等是妊娠性肾病的病变特点,电镜检查有助于确诊。     

外阴肌上皮癌1例临床病理分析

目的观察外阴肌上皮肿瘤的形态学改变,探讨其临床病理特征、超微病理和鉴别诊断。方法对1例发生于外阴的肌上皮癌进行光镜、免疫组化、电镜观察,并复习相关文献。结果光镜检查:肿瘤细胞呈3种生长模式,部分细胞呈上皮样、条索状或实性片状排列,部分细胞呈梭形、席纹状排列,且背景黏液样变,可见散在核分裂象,未见坏死。免疫表型:肿瘤细胞Pax-8、ER、EMA均强阳性,Caldesmon、S-100部分阳性。电镜检查:肿瘤细胞大多呈梭形,核形不规则,染色质丰富,核仁明显,部分细胞胞质内可见多少不等的细丝状物质,有的聚集形成密体样结构。结论形态学不典型的肌上皮肿瘤,尤其是发生于少见部位,在免疫组化诊断有困难时,结合电镜下肿瘤细胞的超微结构,对该肿瘤的诊断有重要的提示作用。     

Ⅲ型胶原肾小球病的形态学观察

目的了解Ⅲ型胶原肾小球病的形态学改变,并对Ⅲ型胶原可能的细胞来源进行初步探讨。方法对3例肾活检组织进行光镜、免疫荧光、电镜和Ⅰ、Ⅲ、Ⅳ型胶原及d平滑肌肌动蛋白(α-SMA)的免疫组织化学染色(SP法)观察。结果2例患者临床表现为肾病综合征,其中1例伴高血压,第3例表现为肾功能不全和肾性高血压。3例均无肾病家族史。光镜检查可见肾小球基膜内和系膜区弥漫性过碘酸-希夫反应阳性物质沉积,系膜细胞无明显增生。电镜检查在基膜内疏松层和系膜区可见大量胶原纤维沉积,系膜细胞胞膜下平行排列的束状微丝明显增加。免疫组织化学显示这些胶原纤维为Ⅲ型胶原,Ⅰ型和Ⅳ型胶原阴性,同时系膜区多数系膜细胞α-SMA阳性。结论Ⅲ型胶原肾小球病光镜、电镜及免疫组织化学上都有其特殊的病理改变。肾小球内激活的系膜细胞可能是Ⅲ型胶原的来源。     

IgA肾病组织纤连蛋白的表达

目的：探讨肾组织纤维蛋白的表达在ＩｇＡ肾病（ＩｇＡ Ｎ）进展中的病理学及临床意义。方法：运用Ｓ－Ｐ法对６０例ＩｇＡ Ｎ的肾活检示本进行纤维蛋白（ＦＮ）、增殖细胞核抗原（ＰＣＮＡ）的免疫组化染色，并与肾小球及肾小管间质损伤程度相对照，进行统计学处理。结果：肾小球系膜区ＦＮ与系膜细胞增生、肾小球损伤程工及肾小管间质损伤程度均呈正相关。基膜ＦＮ的出现与基膜内皮下沉着物、肾小球操作程度及肾小管间质损伤程度     

纤维样肾小球病1例报道及文献复习

目的 探讨纤维样肾小球病的病理形态特点.方法 观察1例纤维样肾小球病肾穿活检组织的病理形态(光镜、特殊染色、免疫组化、电镜)及临床资料分析,并结合文献讨论.结果 光镜下系膜增生、PAM-Masson染色系膜区见团块状状嗜复红蛋白沉积,GBM增厚、局灶节段细小钉突化;各种免疫球蛋白及补体在肾小球内不同程度的沉积;电镜见系膜区、GBM及肾小管基膜上沉积物中均见大量纤维样物质沉积,此类物质无分支,杂乱排列,较淀粉丝粗,较胶原纤维细.结论 纤维样肾小球病主要表现为膜性肾病型,其次为系膜增生型;超微结构观察是诊断纤维样肾小球病的主要依据,电镜下纤维样物质(直径15~25 nm)呈弥漫性或团块状分布于肾小球系膜区和(或)GBM是纤维样肾小球病的主要特点,患者多为中年女性,预后差.     

伸展细胞型室管膜瘤的病理学观察

目的 探讨伸展细胞型室管膜瘤的临床病理特点、诊断及鉴别诊断。方法 对6例伸展细胞型室管膜瘤进行光镜、免疫组化、特殊染色、电镜观察并结合文献进行分析。结果 肿瘤主要由长梭形细胞构成,呈束状交错状、车辐状排列,可见围绕血管分布,形成假菊形团。瘤细胞呈单极或双极突起细长,分化好,核分裂象罕见,未见坏死。免疫组化标记瘤细胞vimentin强阳性,GFAP、S-100蛋白、EMA阳性,Syn和HHF35阴性。超微结构观察见较多的中间细丝和发育好的的桥粒,以及细胞间腔隙内有微绒毛。结论 伸展细胞型室管膜瘤起源于脑室附近伸展细胞,是罕见的室管膜瘤的一个亚型,在诊断上往往易与其它梭形细胞为主的神经上皮肿瘤相混,病理诊断依赖于组织学、免疫组化、特殊染色和电镜观察。免疫组化和特殊染色在鉴别诊断中有重要价值。     

一种显示肾组织结构的新染色法——酸性复红银染法

对肾小球和其他肾脏疾病的诊断,主要依赖于对活检标本的光镜、电镜观察,或利用免疫细胞化学技术进行诊断,但电镜及免疫组化方法并非在所有病理实验室都可施行,大部分诊断仍需依赖常规福尔马林固定、石蜡包埋组织进行普通染色和一系列特殊染色.如过碘酸雪夫氏反应,Masson染色法、地衣红弹性蛋白染色和银染法等.许多肾小球的异常取决于光镜的鉴别,因此,肾组织各种结构的清晰显示与分辨至关重要,我们将常规染色与一些特殊染色相结合,建立一种显示肾组织各种结构的染色方法.     

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.     

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.     

The universal muscular chain reaction,muscle spasm,Torsions, ruptures and extravasations. Chameleons of pathology and some manifestations of simple muscular disorders

Most bodily functions require the coordinated actions of complementary and supplementary paired muscle groups. Where this essential muscular cooperation is lacking, hollow organs may burst and others become literally screwed up, giving rise to many similar spastic diseases such as Torticollis, Twisted ovarian cyst, Torsion of the Testis, Volvulus of the intestines, Varicose Veins, Megacolon, Aortamegaly, Scoliosis, Erb's Palsy, Peyronie's Disease, Main-en-Griffe, Undescended Foot (Pes Cavus), Talipes, Strabismus. Spasm is “panenepidemic” and unclassified examples of Torsion Dystonia and Dyskinesia really are as common as debt and taxes.     

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.     

Hypo- und Hypermagnesämie aus kardiologischer Sicht

Zusammenfassung Eine Reihe pathologischer Zustände bedingen Magnesiummangel. Zustände mit Hypermagnesämie sind ebenfalls bekannt, doch wesentlich seltener. Für den Kardiologen beachtenswert ist, daß unter Therapie mit bestimmten Diuretica bei Herzinsuffizienz, bei Herzinfarkt, Kardiomyopathie, Digitalisintoxikation und bestimmten Herzrhythmusstörungen Hypomagnesämie beobachtet wurde. Leider kann in der klinischen Routine nur ein extracelluläres Magnesiumdefizit durch Serumbestimmungen gemessen werden; über Magnesiummangel einzelner Organe kann nichts ausgesagt werden. Hinweise für Magnesiummangel geben aber neben der Messung des Serumspiegels Anamnese, klinischer Befund, bestimmte EKG-Veränderungen wie auch evtl. Hypokalämie, ein Zustand, bei dem sich oft — besonders bei Aldosteronismus — parallele Veränderungen zeigten.Tierexperimente deuten darauf hin, daß infarktähnliche Läsionen unter Magnesiummangel entstehen, doch ob Herzinfarkt beim Menschen durch Magnesiummangel ausgelöst werden kann, ist noch ungeklärt. In Leichenherzen zeigte sich im Infarktgebiet neben Calciumakkumulation signifikanter Magnesiumverlust, wobei unklar blieb, ob sich Ursache oder Folge des Infarktes widerspiegelten. Falls ein ursächlicher Zusammenhang besteht, ist er im Myokardstoffwechsel selbst zu suchen, wie bei der Alkoholkardiomyopathie, wo myokardialer Magnesiummangel zumindest als pathogenetischer Teilfaktor anerkannt wird. Andererseits versucht man aber auch Beziehungen zwischen Atherosklerose, Blutgerinnung und Hypomagnesämie herzustellen, in der Meinung, daß Magnesiummangel auch über den coronaren Pathomechanismus des Herzinfarktes wirken könnte. Sicher scheint, daß gewisse EKG-Veränderungen und Herzrhythmusstörungen durch einen irritierten Magnesiumhaushalt bedingt sein können, da sie bei Gabe bzw. Entzug von Magnesium verschwinden. Daß Magnesiummangel die Glykosidtoleranz verringert, wird tierexperimentell bestätigt. Unter Hypomagnesämie bewirkt Acetylstrophanthidin eher und länger Rhythmusstörungen als ohne, außerdem lassen diese sich durch Magnesiumgaben eliminieren. Da in gewissen Fällen spontane und digitalisinduzierte Herzrythmusstörungen durch Magnesiuminjektionen beseitigt wurden, scheint Magnesium als Therapeuticum angebracht. Einsatz verschiedener Magnesiumsalze bei Angina pectoris, degenerativen Herzerkrankungen und Herzinsuffizienz ohne geprüften und offensichtlich gestörten Magnesiumhaushalt ist fragwürdig, weil keine eindeutigen klinischen Erfolgsbeweise vorliegen. Immerhin mag es aber larvierte, durch Serumbestimmungen nicht erfaßbare Mangelzustände geben. Allgemein erscheint es aus kardiologischer Sicht ratsam, den Magnesiumhaushalt zu überwachen und in entsprechenden Fällen auszugleichen, um möglichen Myokardläsionen oder fatalen Herzrhythmusstörungen entgegenzuwirken.     

Environmental risk factors and their role in the management of atopic dermatitis

Introduction: The etiology of atopic dermatitis (AD) is multifactorial with interaction between genetics, immune and environmental factors.

Areas covered: We review the role of prenatal exposures, irritants and pruritogens, pathogens, climate factors, including temperature, humidity, ultraviolet radiation, outdoor and indoor air pollutants, tobacco smoke exposure, water hardness, urban vs. rural living, diet, breastfeeding, probiotics and prebiotics on AD.

Expert commentary: The increased global prevalence of AD cannot be attributed to genetics alone, suggesting that evolving environmental exposures may trigger and/or flare disease in predisposed individuals. There is a complex interplay between different environmental factors, including individual use of personal care products and exposure to climate, pollution, food and other exogenous factors. Understanding these complex risk factors is crucial to developing targeted interventions to prevent the disease in millions. Moreover, patients require counseling on optimal regimens for minimization of exposure to irritants and pruritogens and other harmful exposures.     

Class II HLA in Georgia Caucasus Tbilisi Georgians and their Mediterranean ancestry: The Usko Mediterranean languages

Georgia (or Sakartvelo in its own language) is a South Caucasus Mts. country with its easternmost part is enigmatically named Iberia, like the Iberian Peninsula, which may refer to rivers “Kura” and “Ebro” or their valleys respectively. Most of their inhabitants speak Georgian which is included within Dene-Caucasian group and Usko-Mediterranean subgroup of languages. The latter includes Basque, Berber, ancient Iberian-Tartessian, Etruscan, Hittite, Minoan Lineal A and others. In the present paper, HLA class II -DRB1 and -DQB1 alleles has been studied and extended haplotypes calculated. Most frequent haplotypes are also of Mediterranean origin (i. e.: (A*02-B*51)-DRB1*11:01-DQB1*03:01, (A*02-B*51)-DRB1*13:01-DQB1*06:03, or (A*24-B*35)-DRB1*01:01-DQB1*05:01) and DA genetic distances show that closest world populations to Georgians are Mediterraneans. Georgians also show common extended haplotypes ((A*02-B*51)-DRB1*11:01-DQB1*03:01, (A*02-B*13)-DRB1*07:01-DQB1*02:01 and (A*03-B*35)-DRB1*11:01-DQB1*03:01) with Svan people, a secluded population in North Georgia mountains. We can conclude that Georgians belong to a very old Mediterranean substratum according to both linguistics (Usko Mediterranean languages) and HLA genetics.     

HLA genes in Amerindians from Mexico San Vicente Tancuayalab Teenek/Huastecos

Huastecos or Teenek Amerindians are presently living at North East Mexico (San Luis Potosi State). They have probably one of the most ancient culture of Mexico and Central America together with Mayas and Olmec groups with which also show close relationships. Proximity to Atlantic Ocean/Mexican Gulf originated that Spaniards had very early contact with them at about 1519 CE or before. In the present paper we have aimed to study HLA gene profile which may be useful for HLA and disease epidemiology and transplant programs in Teeneks. HLA-DRB1*04:07, -DRB1*14:06 and -DRB1*04:11 have been found in high frequency like in other Amerindian groups. High frequency typical Amerindians HLA extended haplotypes have been found, such as A*02-B*35-DRB1*04:07-DQB1*03:02; A*68-B*39-DRB1*04:07-DQB1*03:02 and A*02-B*39-DRB1*04:07-DQB1*03:02; also new haplotypes have been described, like A*02-B*52-DRB1*04:11-DQB1*03:02, A*68-B*35-DRB1*14:02-DQB1*03:01 and A*68-B*40-DRB1*16:02-DQB1*03:01. Genetic proximity is observed not only to linguistically close Mayans, but also to Mazatecans, Mixtecans and Zapotecans, who speak an altogether different languages; it shows once more that genes and languages do not correlate. This population was greatly diminished after European contact between 1500 and 1600 years CE; in fact, North and South America First Inhabitants population was brought from 80 down to 8 million people because of diseases (i.e.: measles, smallpox or influenza), slavery and war.