哮喘患儿血管紧张素转移酶基因I/D多态性分析

目的探讨血管紧张素转移酶(ACE)基因插入/缺失(I/D)多态性与儿童哮喘的关系.方法采用聚合酶链反应(PCR)方法检测52例哮喘患儿,40例正常儿童的ACE基因型.结果哮喘组DD基因型频率和D等位基因频率分别为35%和45%,而正常对照组为13%和31%.两组比较有显著性差异(P＜0.05),携带DD基因型与非DD基因型的哮喘患儿间最大呼气流量占预计值的百分比无显著性差异(P＞0.05).结论ACE基因DD基因型与哮喘的易感性有关,可能是哮喘的危险因素,而与气道阻塞程度无关.     

新疆吐尔扈特蒙古族人群血管紧张素转换酶（ACE）基因多态性分析

目的: 研究新疆地区吐尔扈特蒙古族人群血管紧张素转换酶(ACE)基因插入/缺失多态性分布情况.方法: 采用聚合酶链反应(PCR)分别检测 82例新疆地区吐尔扈特蒙古族正常人群样本的ACE I/D基因型, 分类计数进行统计学分析.结果: 新疆地区吐尔扈特蒙古族正常人的ACE基因3种基因型频率分别为: DD型 24.39%, ID型 26.83%, Ⅱ型 48.78%.D和I等位基因频率分别为37.80%和62.20%.结论: ACE基因多态性的分布与性别无关, 新疆地区吐尔扈特蒙古族人群ACE基因频率分布与日本人相近, 但DD型及D等位基因频率低于欧美人群.     

西藏藏族人群血管紧张素转换酶基因多态性分布

目的:探讨西藏拉萨、那曲地区藏族健康人群血管紧张素转换酶(ACE)基因第16内含子287bpAlu顺序插入/缺失(I/D)多态性分布。方法:采用聚合酶链反应(PCR)方法检测ACE基因型。结果:76例拉萨藏族人ACE基因型频率分别为Ⅱ=0．395,ID=0．316,DD=0．289,等位基因频率分别为Ⅰ=0．553,D=0．447。81例那曲藏族人ACE基因型频率分别为Ⅱ=0．346,ID=0．444,DD=0．210,等位基因频率分别为Ⅰ=0．568,D=0．432。结论:拉萨、那曲地区藏族人ACE基因型及等位基因频率分布无显著差异;西藏藏族与英国白人和美国黑人相比基因型及等位基因频率均存在显著性差异,但与韩国人及日本人相似。     

血管紧张素转化酶基因I/D多态性与脑梗死后抑郁相关

目的 探讨北京地区汉族人群血管紧张素转化酶(ACE)基因插入/缺失(I/D)多态性与脑梗死后抑郁(PCID)发病的关系.方法 用汉密尔顿抑郁量表评定664例脑梗死患者抑郁状态,用PCR方法检测患者ACE基因I/D多态性,分析基因多态性分布与脑梗死后抑郁发病的相关性.结果 脑梗死后抑郁患者组ACE基因I/I基因型频率和I等位基因频率(分别为0.388和0.549)显著高于脑梗死后非抑郁患者对照组(C)(分别为0.286和0.481,P＜0.05).结论 ACE基因I/D多态性与脑梗死后抑郁发病相关,ACE I/I基因型可能是脑梗死后抑郁发病的危险因素.     

血管紧张素转换酶基因多态性与慢性阻塞性肺病易感性的关系

探讨ACE基因插入 (insertion ,I)与缺失 (deletion ,D)多态性对COPD易感性、气道重构和肺功能损害程度的影响。从外周血白细胞中提取人类基因组DNA ,应用血管紧张素转换酶 (ACE)基因第 16内含子多态区两侧序列作为引物 ,采用PCR方法测定 12 2例COPD患者、15 9例健康人的ACE基因型。用多元线性逐步回归分析纠正性别、年龄等影响因素后确定独立危险因子。COPD组中DD基因型的分布频率显著高于正常对照组 (分别为 0 4 7、0 16 ,P<0 0 5 ) ;D等位基因频率也高 (分别为 0 6 2、0 4 3,P <0 0 5 ) ;DD型COPD患者肺通气功能损害较II型者为重 (P <0 0 5 )。ACE基因D型纯合子可能与COPD的遗传易感性相关 ,DD型基因可能是COPD发病新的独立危险因素。     

新疆哈萨克族隔离群血管紧张素转换酶基因I/D多态性与高血压病的关系

目的 探讨哈萨克族人群血管紧张素转换酶(angiotensin converting enzyme,ACE)基因第16内含子中的插入／缺失(insertion／deletion，I／D)多态性是否为高血压病(essential hypertension，EH)的遗传易患因素。方法 应用聚合酶链反应检测了新疆巴里坤县201例哈萨克族高血压病患者和151名正常人的ACE基因16内含子I／D多态性。结果 哈萨克族正常人群及高血压患者的ACE基因I／D多态性DD、ID、Ⅱ基因型频率分布分别为0．17、0．43、0．40和0．18、0．52、0．30，D和I等位基因分布频率分别为0．39和0．61和0．44、0．56，符合Hardy-Weinberg平衡。群体相关分析结果表明，ACE基因的D及I等位基因分布在高血压病组及正常血压组的差异无显著性(x^2＝1．98，P＝0.16)；基因型频率之间差异也无显著性(x^2＝4．0，P＝0．14)。结论 ACE基因16内含子I／D多态性可能与新疆巴里坤哈萨克族高血压病无关。     

山西汉族正常人群ACE基因多态性频率的分布

目的应用RFLP方法研究ACE基因插入/缺失（I/D）多态性在山西地区360例汉族正常人群中的频率分布。结果显示等位基因频率Ⅰ：62.4%、D：37.6%,各基因型频率分别为：Ⅱ38.1%、ID46.6%、DD13.3%,各基因型频率与新加坡人、日本人、台湾地区、香港的华人接近,与英国白人和非洲籍人群差异显著。表明ACE基因多态性的分布有明显的种族和地区差异。     

小儿肾病综合征血管紧张素I转换酶基因多态性研究

目的探讨ACE基因第16内含子插入/缺失多态性与肾病综合征、血清ACE活性的关系. 方法采用聚合酶链式反应(PCR)检测82例肾病综合征患儿和38例正常儿童ACE基因并同时用酶偶联法测血清ACE活性. 结果①82例肾病综合征患儿中ACE基因II型,ID型和DD型频率分别为47.6%(39/82),24.4%(20/82)和28%(23/82).对照组分别为47.3%(18/38),23.7%(9/38)和29%(11/38),肾病综合征患儿和正常儿童之间ACE基因I/D多态性频率差异无显著性意义(p>0.05).②38例正常儿童和82例肾病综合征患儿血清ACE活性比较差异无显著性意义(p>0.05),ACE各基因型中血清ACE活性差异有显著性意义(p<0.01),DD型>ID型>II型. 结论①小儿肾病综合征ACE基因II型,ID型和DD型频率分布和正常儿童差异无显著性意义(p>0.05).②ACE基因多态性与血清ACE活性密切相关.     

脑卒中患者血管紧张素转换酶基因多态性与心率变异性的关联研究

目的　探讨脑卒中患者血管紧张素转换酶 (angiotensin- converting enzyme,ACE)基因多态性和心脏心率变异性的关系。方法　应用聚合酶链反应方法检测 4 3名正常人、4 6例脑梗塞患者、4 0例脑出血患者 ACE基因的插入 /缺失多态性 (insertion/deletion,I/D) ,并用心率变异性 (heart rate variability,HRV)分析方法观察其 HRV的时域、频域和混沌参数。结果　缺血性、出血性脑卒中患者的 ACE基因缺失型 (DD)及 D等位基因频率明显高于正常对照组 (P<0 .0 1) ,DD型患者的 HRV的参数值升高 ,即相邻心搏间期的均方根值、相邻心搏间期差大于 10 ms的心搏间期数占心搏间期总数的百分比、总功率谱、高功率谱、低频功率谱、混沌参数 ,明显高于 ACE基因插入型 (II)、ACE基因插入 /缺失混合型 (ID)患者 ,差异有显著性 (P<0 .0 5 )。结论　 HRV的相关参数和遗传相关 ,提示脑卒中患者有 ACE DD基因型的人 ,有脑源性心脏自主神经功能紊乱发生的危险性。     

小儿肾病综合征血管紧张素I转换酶基因多态性研究

目的：探讨ACE基因第16内含子插入／缺失多态性与肾病综合征、血清ACE活性的关系。方法：采用聚合酶链式反应（PCR）检测82例肾病综合征患儿和38例正常儿童ACE基因并同时用酶偶联法测血清ACE活性。结果：①82例肾病综合征患儿中ACE基因Ⅱ型，ID型和DD型频率分别为47．6％（39／82），24．4％（20／82）和28％（23／82）。对照组分别为47．3％（18／38），23．7％（9／38）和29％（11／38），肾病综合征患儿和正常儿童之间ACE基因I／D多态性频率差异无显著性意义（P＞0．05）。②38例正常儿童和82例肾病综合征患儿血清ACE活性比较差异无显著性意义（P＞0．05），ACE各基因型中血清ACE活性差异有显著性意义（P＜0．01），DD型＞ID型＞Ⅱ型。结论：①小儿肾病综合征ACE基因Ⅱ型，ID型和DD型频率分布和正常儿童差异无显著性意义（P＞0．05）。②ACE基因多态性与血清ACE活性密切相关。     

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.