上海市出生缺陷动态监测三年（1988——1990）情况分析

本文对1988～1990年上海市出生缺陷监测点资料进行分析。结果表明：三年出生缺陷发生率分别为11．99‰、13．31‰及11．54‰，差别无显著性。发生缺陷顺位，前五位为肌肉骨骼系统、面耳颈部，心血管系统、中枢神经系统与泌尿生殖系统，消化系统。接病名分：其前10位为：唇腭裂、多指、先心病、唐氏综合征、马蹄内翻，单纯唇裂、足月睾丸未降、脑积水、无脑儿及多趾。这十种畸形占全部畸形的半数以上(58%)。10个监测点中以南汇县出生缺陷发生率最高(16．26‰)，嘉定县最低(7．56%)，但市区与郊县无显著性差别。男性缺陷发生率(14．23‰)显著高于女性(11．11‰)．多胎缺陷率(18．10‰)显著高于单胎(12．20‰)。低出生体重儿缺陷率(65.23‰)显著高于正常体重组(9．88‰)。     

上海市降低出生缺陷对策的探讨

为了解上海市近年来出生缺陷的发生情况及变化趋势，本文对１９８８－１９９０年全市１０个监测点的出生缺陷情况与１９９１－１９９３年全市出生缺陷个案全文情及同期测点情况地比较分析。结果表明：上海市１９９１－１９９３年出生缺陷总发生率为７．５６‰，其中１０个监测点的发生率为９．６４‰，均显著低于１９８９－１９９０年监测点的１２．３‰，Ｐ〈０．０１。     

云南玉溪市1986－1990年出生缺陷发生率及其顺位

我站对玉溪市１９８６－１９９０年出生缺陷（ＢＤ）的工作进行了监测工作。结果：５年中共监测到出生婴儿１９８７４例，发现ＢＤ１３２例，ＢＤ发生率为６．６４‰，其中发现各种畸形１５８例，畸形发生率７．９５‰，一婴两种及两种以上畸形１４例，占１０．６１％，典型的１例ＢＤ儿并发１１种畸形。ＢＤ儿中死产、死胎共２５例，新生儿死亡９例，各占１８９．４‰、６８．２‰。各年度ＢＤ发生率波动不显著，但月分布呈聚集性，Ｐ＜０．０１，有突发性特点。发现畸形种类１８种，以畸形发生率排顺位，唇裂士腭裂为首，发生率２．１１‰，多（并）指（趾）次之，发生率为１．４１‰；ＮＴＤ排列第三，发生率０．９６‰；足内／外翻居第四位，发生率０．６０‰。ＢＤ发生在四肢、指（趾）、唇腭部位者为本市主要的畸形好发部位，加上ＮＴＤ占ＢＤ总数的７０．４６％。     

青岛市四方区1997年-2007年围产儿出生缺陷监测分析

目的了解青岛市四方区围产儿出生缺陷的情况,动态观察缺陷发生状况、变化趋势及相关因素,为制定干预措施提供依据。方法按照中国出生缺陷检测中心制订的出生缺陷诊断及统计标准,利用本区妇幼三级网络对11年间四方区分娩的围产儿进行诊断检测。结果出生缺陷发生率8.073‰,其中婚检率的高低与缺陷率成反比;前4位出生缺陷为：指（趾）畸形、总唇裂、先心、神经系统畸形;男性围产儿出生缺陷发生率明显大于女性围产儿（χ^2=8.378,P〈0.01）;〈20岁的低龄孕产妇组出生缺陷发生率最高,为34.483‰;孕期主要异常情况为孕早期上感（并发热）、丈夫接触有害物质。结论把握不同的发生特征,分析研究出生缺陷产生的原因,有针对性地加强围产保健工作质量和三级预防保健队伍建设,提倡婚前医学检查,制定多方面的干预措施,降低出生缺陷率。     

包头市昆区2009年～2013年围产儿出生缺陷监测资料分析

目的对包头市昆区2009年-2013年出生缺陷监测结果进行分析,了解出生缺陷的种类、分布及其影响因素,为制定干预措施提供依据．方法按照《中国出生缺陷监测方案》的要求,对我区2009年～2013年在7家监测医院、镇卫生院分娩的54798例围产儿的出生缺陷监测资料进行系统性分析。结果共监测到出生缺陷392例,出生缺陷总发生率为7．15‰,前4位出生缺陷依次为总唇裂97例、多指（趾）84例、神经管畸形33例（包括脊柱裂24例、无脑畸形4例、脑膨出5例）、先心病24例;近几年出生缺陷发生率保持稳定,未有明显上升趋势,围产儿发生缺陷的比率男性（8．11‰）高于女性（6．04‰）。结论从出生缺陷的发病率入手,进一步加强社区及医院孕产妇保健系统管理,提高产前诊断水平,普及优生优育知识,从而降低出生缺陷发生率。     

余姚地区177例出生缺陷情况分析

目的分析2013年余姚市出生缺陷发生情况及主要特征,探讨影响出生缺陷的因素,找出适合该人群的干预措施。方法对余姚市2012年10月1日~2013年9月30日的出生缺陷资料进行分析。结果 2013年出生缺陷总发生率为13.88‰,其中围产儿126例,发生率为9.88‰,28w治疗性引产51例;本市户籍人口出生缺陷发生率为13.16‰,与前几年持平,非本地户籍为14.46‰,高于前几年发生率;本市户籍人口出生缺陷发生率、孕中期缺陷检出率与非本市户籍人口无显著性差异;产妇年龄超过35岁组缺陷发生率明显高于其他年龄组;出生缺陷发生顺位前5位依次为先天性心脏病、多指(趾)、总唇裂、外耳其他畸形、肾脏畸形及神经管畸形。结论做好孕产妇孕前、孕期保健,常规进行产前筛查和孕中期彩超排畸,避免缺陷儿进入围产期,是降低围产儿出生缺陷发生率的最有效措施。     

南通地区14203例围产儿出生缺陷监测及预防对策

本文对南通市7个县市2001年1月1日—12月30日各监测医院的围产儿进行逐一筛查，一共发现出生缺陷儿87例，出生缺陷发生率6.13‰，围产儿死亡136例，围产儿死亡率9.57‰。出生缺陷死亡占围产儿死亡的24．3％。前4位出生缺陷是唇裂及腭裂、神经管畸形、多指、脑积水。农村出生缺陷发生率显著高于城镇(P＜0.01)。母龄≥35岁组出生缺陷发生率显著高于其他年龄组。出生缺陷的发生与季节和性别无相关性。产前和产后确诊率分别为78．2％和21.8％。提示降低出生缺陷应广泛开展健康教育，加强婚前保健，开展产前诊断和遗传优生咨询。     

梧州地区1529例出生缺陷儿监测分析

目的了解梧州市出生缺陷发生情况及分布特征，为出生缺陷的预防和干预提供依据和对策。方法收集梧州市2001～2006年出生缺陷资料，对资料进行分析。结果6年间共发现出生缺陷儿1529例，平均出生缺陷率为17．41‰，2006年前10位出生缺陷为：胎儿水肿综合征（3．17‰），唇裂合并腭裂（1．61‰），马蹄内翻足（1．51‰），多指（1．46‰），肢体短缩（1．31‰），并指（1．21‰），先天性脑积水（1．01‰），唇裂（0．91‰），无脑畸形（0．55‰），尿道下裂（0.40‰）。结论梧州市2001—2006年出生缺陷发生率呈逐年下降趋势，因此应继续加强卫生知识宣教和婚前医学检查、产前筛查及产前诊断，以预防和减少出生缺陷的发生。     

余姚地区275例出生缺陷监测分析

目的了解2011年-2012年余姚市的出生缺陷发生及构成情况,分析原因,寻求干预措施,降低出生缺陷发生率及围产儿死亡率。方法对余姚市2011年至2012年在3个省出生缺陷监测点孕产妇分娩的围产儿及〈28w的治疗性引产儿进行监测。结果余姚市3个省出生缺陷监测点出生缺陷儿275例,其中〈28w治疗性引产儿92例、围产）h183例,出生缺陷总发生率为141．74／万。围产儿出生缺陷发生率94．32／万。出生缺陷前5位畸形依次为肢体畸形、唇（腭）裂、外耳畸形（小耳）、先天性心脏病、神经管畸形。产前诊断率61．09％。结论余姚市出生缺陷发生率处于稳定水平,产前筛查和产前诊断工作的开展,是降低出生缺陷发生率较为有效的干预措施。     

湖北省十二年出生缺陷监测分析

目的：了解湖北地区出生缺陷发生及分布情况,掌握严重和高发出生缺陷变动趋势,为今后开展研究工作及有关部门制定政策提供参考依据。方法：按全国出生缺陷监测网要求,１９８６年１０月至１９９８年１２月对孕２８周至产后７天的围产儿进行监测。结果：１２年共监测围产儿２６２７８３例,发现畸形儿１９９９年例,平均出生缺陷发生率７．６１‰;男婴出生缺陷发生率明显高于妇婴（Ｐ〈０．００１）。面耳颈部、肌肉骨骼系统畸形在     

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.     

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.     

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.     

'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 case for allele‐specific recognition by the TCR

There is a sharp difference in how one views TCR structure–function–behaviour dependent on whether its recognition of major histocompatibility complex‐encoded restriction elements (R) is germline selected or somatically generated. The generally accepted or Standard model is built on the assumption that recognition of R is by the V regions of the αβ TCR, which is not driven by allele specificity, whereas the competing model posits that recognition of R is allele‐specific. The establishing of allele‐specific recognition of R by the TCR would rule out the Standard model and clear the road to a consideration of a competing construct, the Tritope model. Here, the case for allele‐specific recognition (germline selected) is detailed making it obvious that the Standard model is untenable.     

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.