武汉地区268对自然流产夫妇的细胞遗传学研究

目的对有自然流产史的夫妇进行细胞遗传学检查,探讨染色体异常与自然流产的关系.方法采用外周血淋巴细胞培养进行染色体核型分析.结果 536例患者中共检出异常核型28例,异常率为5.22%(28/536);另检出染色体多态性变异20例,检出率为3.73%,其中大Y 8例,检出率为1.49%,qh 7例,D/G组p 或s 5例.异常核型中染色体相互易位16例,罗伯逊易位4例,臂间倒位8例.结论染色体畸变是引起反复自然流产的一个重要原因,对有自然流产史的夫妇进行染色体检查具有临床意义.     

染色体异常及多态性与复发性流产的相关性分析

目的探讨分析复发性流产与染色体异常及多态性的临床相关性。方法将2013年1月至2018年1月于山西省人民医院生殖医学科的1368例(684对)复发性流产患者作为研究组,同时选取764例(382对)无流产史且正常分娩的夫妇作为对照组。作常规技术的外周血淋巴细胞培养,G显带染色体核型分析。结果 1368例复发性流产患者中,检出异常核型223例,异常核型检出率为16.3%(223/1368);其中多态性核型为182例,占异常核型81.6%,异常检出率13.3%;相互易位核型10例,占异常核型4.48%,异常检出率0.73%;罗式易位31例,占异常核型13.9%,异常检出率2.27%。而在764例对照组中只检出多态性核型27例,异常检出率3.53%(27/764)。研究组中多态性检出率显著高于对照组,差异具有统计学意义(P0.05)。结论染色体核型异常是导致复发性流产的一类重要遗传学因素;此外,多态性的存在可能增加了复发性流产的风险,建议临床应重视多态性与复发性流产的可能潜在关系。     

广东部分地区346对两次以上自然流产夫妇的细胞遗传学检查

目的:分析比较染色体异常与多次自然流产的关系。方法对有两次以上(含两次)自然流产史的346对夫妇进行了外周血染色体核型分析。每个病例观察20个细胞,分析3-5个核型。结果本文346对(692例)两次以上自然流产夫妇中检出78例染色体核型异常及变异者,检出率为11.3%,其中平衡易位占2.5%;检出臂间倒位占1.9%;D与G组染色体多态性占4.2%;1,、9、16号染色体异染色质增多者占1.3%;另外检出Y=G和Y=18号染色体共10例,占1.45%。结论染色体核型异常与反复性自然流产存在着一定的联系,D与G组染色体多态性,1,、9、16号染色体异染色质增多在反复性自然流产人群的检出率颇高,应引起重视。     

182例有自然流产史夫妇的细胞遗传学研究

目的分析自然流产夫妇的异常核型发生率,探讨自然流产与染色体核型异常之间的关系。方法对182例反复流产夫妇行外周血染色体分析。结果检出异常染色体核型21例,占受检夫妇的11.5%。异常核型中,大Y染色体、平衡易位者例数相等,占异常核型的47.6%,平衡易位者中相互易位8例,罗伯逊易位1例,染色体多态性2例。结论对于不明原因的自然流产夫妇,染色体分析应作为常规的检测方法。     

徐州地区57对复发性流产夫妇的染色体核型分析

目的探讨复发性自然流产与外周血染色体异常核型之间的关系。方法采用外周血淋巴细胞培养,常规G显带技术行染色体核型检查,后结合临床资料对其进行分析。结果57对复发性自然流产夫妇中,检出异常染色体核型20例,检出率17.54%。结论染色体核型异常是导致复发性自然流产的重要原因之一,对复发性流产患者进行染色体检查及遗传咨询具有一定的临床意义。     

许昌地区168对自然流产夫妇的细胞遗传学研究

目的对有自然流产史的夫妇进行细胞遗传学检查,探讨染色体异常与自然流产的关系。方法采用外周血淋巴细胞染色体培养技术进行染色体核型分析。结果336例患者中共检出异常核型18例,异常率为5.36%(18/336);另检出染色体多态性变异5例,检出率为1.49%,其中大Y4例,检出率为1.20%,qh 1例。异常核型中染色体相互易位12例,罗伯逊易位3例,臂间倒位3例。结论染色体畸变是引起自然流产的一个重要原因,对有自然流产史的夫妇进行染色体检查具有重要的临床意义。     

62例复发性流产夫妇受孕后流产绒毛染色体核型分析

目的通过分析复发性流产夫妇受孕流产绒毛染色体核型探讨复发性流产夫妇自然流产和胚胎发育不良的病因。方法对复发性流产夫妇孕早期（孕8～12周）流产的绒毛进行绒毛染色体制备和染色体核型分析。结果 62例复发性流产夫妇流产绒毛染色体核型检测成功57例,失败5例。成功的57例中绒毛染色体异常核型检出36例,异常核型检出率为63.2%。结论染色体异常是导致复发性流产夫妇自然流产的重要原因。     

536对反复自然流产夫妇的染色体核型分析

目的探究536对反复自然流产夫妇的染色体核型异常情况。方法对2014年5月至2015年12月在我院就诊的536对反复自然流产夫妇进行回顾性分析。采用外周血染色体检查染色体核型。结果在536对反复自然流产夫妇中共检出染色体核型异常73例(均为夫妇一方),检出率为6.80%(73/1072)。染色体核型多态性51例,检出率为4.75%(51/1072)。其中男性染色体核型异常检出构成比为65.75%(48/73),高于女性染色体核型异常构成比34.25%(25/73)。常染色体异常核型总计45例,构成比为61.64%(45/73),包括平衡易位21例、罗氏易位6例、倒位18例,主要涉及1,2,3,4,5,6,7,8,9,11,13,22等号染色体。性染色体异常核型总计28例,检出构成比为38.36%(28/73),包括小Y 6例、倒位11例、Y长臂有随体2例、Turner综合征2例以及Turner综合征嵌合体7例。在本研究中共计53例染色体多态性核型,包括48例常染色体多态性核型核2例性染色体多态性(均为大Y)。结论染色体核型异常是造成流产的相关因素之一,其中男性染色体异常核型比例相对较高。并且染色体多态性的发生率也较高,临床上进行细胞遗传学检查具有重要意义。     

济南地区1088对异常孕产史夫妇的染色体分析

目的分析染色体异常与异常孕产史的关系.方法采用外周血淋巴细胞培养,染色体核型分析的方法,对自然流产、死胎、生育畸形及智力低下儿等异常孕产史的1088对夫妇进行细胞遗传学检测.结果检出异常染色体核型163例,总检出率7.49%(163/2176).其中775对自然流产及死胎夫妇中,检出异常染色体核型136例,检出率为8.77%(136/1550);曾生育畸形儿的170对夫妇,检出异常核型16例,检出率为4.71%(16/340);77对生育智力低下儿的夫妇中,检出异常核型9例,检出率是 5.84%(9/154),而有新生儿死亡史的66对夫妇中,仅检出2例染色体异常核型,检出率只有1.52%(2/132).结论异常孕产史与染色体异常密切相关,对此人群进行细胞遗传学检查是非常必要的,可以寻找病因,为优生优育提供依据.     

石家庄地区1513对自然流产夫妇的细胞遗传学分析

目的 通过对石家庄地区1513对有自然流产史夫妇的细胞遗传学结果总结分析,为临床提供更好的指导.方法 外周血培养,制片,G显带,行染色体核型分析.结果 1513对夫妇中共检出染色体异常289例,其中染色体核型异常87例,染色体多态性变异202例.有1次自然流产史的共313对,染色体异常检出率为17.57％.有2次自然流产史的共883对,染色体异常检出率为16.65％.有3次及以上自然流产史的共317对,染色体异常检出率为27.44％.有1次自然流产史与有2次自然流产史夫妇的染色体异常检出率差异无统计学意义,与有3次及以上自然流产史夫妇的染色体异常检出率差异有统计学意义.结论 染色体异常是引起自然流产的主要原因之一,应加强对自然流产史夫妇的染色体检查,即使是只有1次自然流产史,以避免染色体缺陷患儿的出生.     

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.