HBsAg携带者成人及儿童的遗传物质损伤的研究

目的探讨乙型肝炎病毒(HBV)感染对HBsAg阳性携带者成人及儿童的遗传物质损伤情况.方法用常规法培养淋巴细胞,对20例无症状HBsAg携带者成人及其8例同为携带者的子女的姐妹染色单体互换(SCE)频率进行了分析.结果 HBsAg携带者成人SCE频率明显高于正常对照组,差异高度显著(t=3.101,P<0.01),其携带者子女的SCE频率亦明显高于正常对照组,差异高度显著(t=3.161,P<0.01).结论 HBV感染可导致HBsAg携带者成人及儿童的遗传物质不稳定.     

无症状HBsAg携带者及其子女转阴血淋巴细胞SCE及DNA损伤修复的研究

目的 观察无症状HBsAg携带者及其子女姐妹染色单体交换(SCE)平均烦率的动态变化以及乙型肝炎病毒(HBV)感染引起的DNA损伤的自然修复。方法 本文采取前瞻性观察,采用20例无症状HBsAg携带者及其8例子女5年后自然转阴外周血淋巴细胞,同时将20例成人无症状HSsAg携带者及其8例携带者子女作为配对组,35例成人和10例儿童HBsAg阴性的健康者作为正常对照组,观察SCE交换频率的动态变化。结果 转阴组SCE均低于成人组和儿童组(P<0.05),而与正常组相比略有增高,但P>0.05。结论 HBV感染引起人类遗传物质损伤后,机体自身对于HBV-DNA修复产生遗传学效应。     

广西大厂锡矿区职工外周血淋巴细胞姐妹染色单体交换(SCE)频率、染色体畸变率和微核率的观察

本文分析了38例大厂矿井下矿工、40例井上工作人员和27例非矿区正常人的外周血淋巴细胞SCE频率、染色体畸变率和微核率差异情况,发现井下矿工的SCE频率和染色体畸变率显著高于井上工作人员及非矿区正常人,微核率的差异无显著意义(P>0.05)。结合矿区肺癌流行病学调查结果对比分析,认为井下矿工长期接触的生产性粉尘中可能存在一些致癌物质,导致机体细胞遗传物质受到一定程度损伤。     

胃癌患者外周血淋巴细胞微核，SCE和染色体畸变的研究

本文分析观察14例胃癌患者和14例正常健康人外周血淋巴细胞的微核,SCE和染色体畸变,结果发现胃癌患者微核率,SCE频率和染色体对畸变率均高于正常对照组,经统计学分析表明的两组之间差异显著,认为染色体不稳定可能是胃癌发生的物质基础。     

母亲不同HBV感染状态所生新生儿树突状细胞亚群及功能研究

目的 探讨新生儿mDC、pDC频数及表面分子表达,以及母亲不同HBV感染状态对新生儿树突状细胞生物学特性的影响.方法 采集HBsAg阳性/HBeAg阳性HBV感染母亲、HBsAg阳性/HBeAg阴性HBV感染母亲以及HBV感染标志物阴性母亲所生新生儿脐带血、健康成人外周血,采用流式细胞仪检测mDC的频数及其CD86的表达、pDC的频数及其CD80、CD83、CD86表达、并采用FlowJo软件进行分析,比较各组间上述指标的差异.结果 分别采集HBsAg阳性/HBeAg阳性、HBsAg阳性/HBeAg阴性和HBV感染标志物阴性母亲所生新生儿脐带血14、12和13例,健康成人外周血7例.新生儿mDC频数(0.29±0.16)及其CD86阳性率(10.72±10.01)显著低于成年人(分别是0.81±0.17和32.13±7.46),(t=-7.86,P=0.00和t=-5.36,P=0.00)；新生儿pDC频数(0.15±0.07)以及pDC表面CD86/CD83阳性率(31.61±12.81,42.66±20.83)显著低于成年人(0.30±0.07;74.96±9.78;82.00±6.94),(t=-5.43,P =0.00;t=-8.49,P=0.00;t=-4.90,P=0.00).结论 新生儿脐带血mDC、pDC频数以及表面功能分子表达低于成人外周血,HBeAg可能降低生新生儿mDC表面CD86的表达.     

新疆昆仑山地区官兵细胞遗传学损伤的观察分析

目的为了观察分析驻守昆仑山高原环境官兵的遗传学损伤。方法选择驻守昆仑高原一年20~25岁的官兵60例(观察组),选择驻守乌鲁木齐一年20~25岁的官兵60例(对照组),染色体的培养,标本全部统一编号,双盲法阅片,每例分析200个M1期细胞,统计外周血淋巴细胞染色体畸变率、细胞微核率和淋巴细胞姐妹染色单体互换频率(SCE)。结果观察组的染色体总畸变、细胞畸变率和倒位频率都显著高于对照组(P<0.05)。在个体分布中,染色体畸变数在2个以上的个体,观察组显著高于对照组。观察组的细胞微核率0.58‰±0.56‰,对照组的细胞微核率0.051‰±0.048‰。淋巴细胞微核率两组间有显著性差异(P<0.05)。观察组SCE频率为10.56±0.98/细胞,分布范围在9.9~10.7/细胞,对照组SCE频率为4.6±0.47/细胞,分布范围在4.3~7.1/细胞,两组间有显著性差异(P<0.05)。结论昆仑高原的特殊环境对官兵的遗传学有一定程度的改变,建议搞好高原防护工作。     

HBsAg携带者外周血染色体畸变与SCE的研究

本文对２０例无症状ＨＢｓＡｇ携带者和３５例正常成人对照组的外周血淋巴细胞的染色体畸变频率和姐妹染色体单体互换频率进行了分析。结果表明，ＨＢｓＡｇ携带者的染色体畸变率和姐妹染色体互换频率均同于正常对照组，差异高度显著。并结合文献资料，对ＨＢＶ感染导致的染色何不稳定性与肝癌发生的关系进行了讨论。     

HLA-DQA1基因多态性和HBV感染结局的关联

目的 探讨人类白细胞抗原(HLA)DQA1基因多态性与乙型肝炎病毒(HBV)感染临床结局的关联.方法 临床收集慢性乙型肝炎(120例)、慢性HBV携带者(60例)、自限性HBV感染者(60例)三组病例,前两组诊断均经肝活检证实.聚合酶链反应序列特异性引物(PCR-SSP)法检测HLA-DQA1基因型,比较组间基因频率的差异.结果 (1)HLA-DQA1*0201在慢性乙型肝炎组的分布频率显著高于自限性HBV感染组(38.3% vs 5.8%,P<0.001,A=10.04,95% CI:4.48～22.48);HLA-DQA1*0102的分布频率显著低于自限性HBV感染组(9.6% vs 36.7%,P<0.001,A=0.183,95%CI:0.10～0.32).(2)HLA-DQA1*0201在慢性乙型肝炎组的分布频率显著高于慢性HBV携带者组(38.3% vs 7.5%,P<0.01,A=7.667,95% CI:3.7～15.87);HLA-DQA1*0102的分布频率显著低于慢性HBV携带者(20% vs 9.6%.P<0.01,A=0.424,95% CI:0.23～0.79).结论 HLA-DQAI基因多态性影响HBV感染临床结局,其中DQA1*0102呈保护作用,DQA1*0201可能促进HBV感染的慢性化和肝炎的发生.     

不同剂量HBIG对母婴乙型肝炎病毒抗原抗体宫内传播的影响

目的探讨不同剂量乙肝免疫球蛋白（HBIG）对乙型肝炎病毒（HBV）抗原抗体宫内传播的影响。方法将母亲乙肝表面抗原（HBsAg）阳性的婴儿作为500例观察对象,根据出生前母亲是否用HBIG分为：观察1组：产前母亲孕末期28w、32w、36w各用200IU（蓉生）HBIG 200例;观察2组：产前母亲孕末期28w、32w、36w各用400IU（蓉生）HBIG 100例;对照1组：产前母亲孕末期不用HBIG 200例。观察生后12h内新生儿静脉血乙肝五项：HBsAg、乙型肝炎表面抗体（HBsAb）、乙型肝炎e抗原（HBeAg）、乙型肝炎e抗体（HBeAb）、乙型肝炎核心抗体（HBcAb）。结果观察1组200例新生儿HBsAg阳性1例,阳性率为0.5%,HBeAg阳性3例,（其中1例HBsAg同时阳性）阳性率为1.5%。对照组HBsAg阳性2例,阳性率为1%,HBeAg阳性8例,（其中2例HBsAg同时阳性）阳性率为4%。经统计学处理（HBsAg）χ2=0.336,P=0.562;（HBeAg）,χ2=2.337,P=0.126。观察1组与对照组生后24h内HBV抗原检测比较无显著差异。观察1组、观察2组与对照组HBsAb检测比较：观察1组新生儿HBsAb阳性率1%,观察2组新生儿HBsAb阳性率2%,对照组HBsAb阳性率1%,各组HBeAb和HBcAb检测比较,结果HBeAb和HBcAb检测母婴符合率均在97%-97.5%之间。结论孕妇HBV携带者产前孕末期用HBIG 200IU隔4w连用3次的方法对阻断乙肝病毒的宫内感染效果不显著。加大HBIG的用量400IU可基本阻断HBV垂直传播胎儿。但鉴于对照组宫内感染率仅4%,加大用量不适用所有HBV携带者孕妇,尤其是HBsAg单阳性孕妇。     

塔什库尔干高原地区官兵细胞遗传学的观察分析

目的为了探讨驻守高原地区官兵的细胞遗传学变化。方法选择驻守在塔什库尔干的20-40岁的官兵60例(观察组),选择驻守在乌鲁木齐的20~40岁的官兵60例(对照组),染色体的培养,标本全部统一编号,双盲法阅片,每例分析200个M1期细胞,统计外周血淋巴细胞染色体畸变率。结果观察组的染色体总畸变、细胞畸变率和易位、倒位频率都显着高于对照组(P<0.05)。观察组染色体畸变率随年龄的(驻守时间)增加而升高,且呈直线正相关(r=0.910)。在个体分布中,染色体畸变数在2个以上的个体,观察组显着高于对照组。观察组的细胞微核率0.68‰±0.63‰,对照组的细胞微核率0.061‰±0.062‰。淋巴细胞微核率两组间有显着性差异(P<0.05)。观察组SCE频率为8.86±1.12/细胞,分布范围在7.8-10.8/细胞,对照组SCE频率为5.6±0.52/细胞,分布范围在4.7~8.6/细胞,两组间有显着性差异(P<0.05)结论驻守在塔什库尔干官兵的细胞学、免疫功能均有一定程度的改变。     

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.     

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.     

'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.     

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.     

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.     

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.