日照地区22个乡镇脑性瘫痪患病情况调查分析

目的：了解日照地区小犭离性瘫痪患病情况。探讨其病因以便进行早期干预。方法：于2000年6月-7月对日照市22个乡镇0-7岁儿童全部进行查体,由省专家组对参与调查人员进行统一培训。级三级筛查确诊。结果：22乡镇0-7岁儿童共64145人,实查62989人,诊断为脑性瘫痪患儿81例,患病率为1.29‰。脑性瘫痪患儿中男略多于女,母亲孕期患病,难产、窒息,低出生体重儿等脑性瘫痪患病率高。结论：做好围产期保健是降低脑瘫患病率的重要措施。     

陵水县小儿脑性瘫痪患病率、相关因素及GAD1基因相关性研究

目的了解三亚地区小儿脑性瘫痪(cerebral palsy,CP)的患病率、相关因素及对其GAD1基因部分外显子进行研究,进而为该地区临床防治本病提供有利参考,实现优生优育的目的。方法对2017年01月至2019年10月选择在海南省陵水县人民医院行健康体检的本地区8819名儿童及其中CP患儿、患儿GAD1基因部分外显子及其母亲的临床资料进行回顾性分析。结果①陵水县小儿CP的患病率约3.97‰(35/8819)。②所有CP患儿GAD1基因中第2、7、10号外显子均未有异常突变。③经多元因素Logistic回归分析,发现低出生体重、新生儿窒息、难产、呼吸窘迫综合征、早产、高胆红血症、妊娠高血压、宫内感染等是导致本地区小儿CP的高危独立因素(P0.05)。结论①陵水县小儿CP的发病率较高,且危险因素颇多,相关部门应予高度重视及加强危险因素管理。②小儿CP与其GAD1基因中第2、7、10号外显子之间可能无相关性,但不排除与其他外显子存在相关性可能。     

238例脑性瘫痪病因分析

目的了解小儿脑性瘫痪（简称脑瘫）相关的致病因素,制定降低脑瘫发生率的相关措施。方法对238例临床诊断为小儿脑瘫的患儿进行回顾性分析。结果脑瘫诊断年龄多在2岁以内,男孩发病率大于女孩,农村多于城市。脑瘫的前6位高危因素是早产、低出生体重、窒息、黄疸、母亲因素、多胎。结论加强孕期及围产期母婴保健,提高产科质量,提高新生儿救治水平,加强高危儿系统管理,不断提高基层医务人员业务水平是降低脑瘫发生率的重要措施。     

小儿脑瘫的遗传学研究进展

近年来脑瘫的病因在遗传、感染、早产等方面取得较大的进展.如基因位点的缺失、遗传性血栓的形成如V因子Leiden突变、脑瘫患儿在数量上的性别差异、遗传多态性和早产/低出生体重关系、胎盘功能不足与胎儿宫内发育迟缓相关性、胎盘凋亡及凋亡相关基因等,从不同角度揭示遗传因素在脑性瘫痪发病中的作用.     

多胎妊娠脑性瘫痪风险

早在1个半世纪前,Freud就意识到多胎妊娠多胎儿可能具有更大风险患脑性瘫痪（CP）。20世纪90年代后,世界各地广泛开展人群基础的流行病学调查发现,CP患病率：单胎出生人口为1．0‰～1．85‰,双胎出生人口为5．9‰～12．6‰、三胎出生人口为26．7‰～44．8‰,若以妊娠为单位计算CP患病率单胎妊娠同上,双胎妊娠为12．0‰-13．2‰,三胎妊娠为75．9‰。（表1）。     

父母与同伴因素对青少年槟榔嚼食行为的影响

目的:探讨父母与同伴因素对青少年槟榔嚼食行为的影响机制。方法:采用问卷法对1150名湘潭市中小学生的槟榔嚼食行为、父母和同伴的嚼食行为与态度、嚼食结果预期、拒嚼效能感进行调查。结果:(1)"现在嚼食者"占总人数的39.8%;男生中"现在嚼食者"比率高于女生(54.8%vs. 26.2%);从小学→初中→高中,"现在嚼食者"比率上升(31.8%vs. 40.8%vs. 49.7%);(2)父母、同伴的嚼食行为及态度对上月槟榔嚼食量均有正向预测效应,嚼食结果预期、拒嚼效能感在其间起完全中介作用;(3)同伴的嚼食行为及态度对相关变量的预测作用均超过父母的嚼食行为与态度的影响,但差异均不显著。结论:父母与同伴因素通过提升嚼食结果预期和降低拒嚼效能感进而对青少年槟榔嚼食行为产生影响。     

85例脑瘫患儿及其相关因素分析

目的:分析儿科脑性瘫痪(CP)的高危因素。方法:对85例脑性瘫痪患儿进行回顾分析。结果:85例 CP中存在一种或一种以上高危因素72例占84.7％,常见为:1.产后窒息;2.早产低体重;3.母妊高征与孕期感染、先兆流产;4.难产史;5高胆红素血症.结论:消除CP的高危因素重点是围生期保健,改进产科技术,尤其对新生儿窒息进行及时正确复苏是减少CP发生关键。     

双胎与脑性瘫痪的流行病学研究

脑性瘫痪(简称脑瘫)是出生前到出生后一个月内各种原因所致的非进行性脑损伤。主要表现为中枢性运动功能障碍及姿势异常。脑瘫是继脊髓灰质炎被控制后中枢神经系统疾病导致身体残疾的主要病因。低出生体重和窒息(胎儿宫内窒息和新生儿窒息)是目前公认的最主要的脑瘫危险因素。由于双胎妊娠发生率在某些国家和地区呈显著上升趋势,双胎又与低出生体重密切关联,这使得双胎与脑瘫关系成为倍受关注的研究课题。最近由中国妇婴保健中心刘建蒙博士、李竹教授和林庆教授等撰写的“中国脑性瘫痪与多胎妊娠关系的流行病学研究”(Ｃｅｒｅｂｒａｌｐａ…     

126例小儿脑性瘫痪病因分析及预防探讨

本文分析了１２６例小儿脑性瘫痪的病因，其中缺氧３８例，早产３３例，母亲因素１３例。患儿本身因素５例，遗传因素２例，原因不明３５例。并指出加强围产期保健，提高产科技术及重视产科与儿科合作是预防性脑性瘫痪的关键。     

38例脑性瘫痪患儿脑电图与脑CT分析

３８例脑性瘫痪患儿脑电图与脑ＣＴ分析石世同１临床资料１．１一般资料本院１９９０～１９９４年收治３８例脑瘫患儿，男２３例、女１５例；年龄３个月～１岁１０例，～３岁１７例，～８岁１１例。早产儿２例，出生体重＜１８００ｇ３例。围产期有脑瘫高危因素１０例，其...     

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.     

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.     

Der Einfluß von Nahrungsmitteln und Rauchen auf die klinisch-chemische Diagnostik von Phäochromozytom,Neuroblastom und Karzinoid-Syndrom

Zusammenfassung Der Einfluß von verschiedenen Nahrungsmitteln auf Methoden zur Bestimmung von Adrenalin (AD), Noradrenalin (NA), Vanillinmandelsäure (VMS), Metanephrinen (MN), Homovanillinsäure (HVS) und 5-Hydroxyindolessigsäure (5-HIE) im 24 h-Harn zur Diagnose des Phäochromozytoms bzw. Karzinoid-Syndroms wurde untersucht. Die in die Untersuchung einbezogenen Nahrungsmittel waren: Tee, Kaffee, Mandeln, Ananas, Käse, Walnüsse, Vanillepudding, Bananen, Tomaten und Milchschokolade. Außerdem wurde der Einfluß des Zigarettenrauchens auf die Bestimmung von AD, NA, VMS und MN untersucht.Walnüsse führten zu einer starken Erhöhung der 5-HIE-Ausscheidung. Bananen erhöhten die Ausscheidung von AD, NA, VMS, MN und 5-HIE. Kaffee und Ananas bewirkten eine geringe Zunahme der MN-Werte. Rauchen von 20–30 Zigaretten/Tag beeinflußte keine der vier Variablen.Wenn die beschriebenen Methoden benutzt werden, sollte lediglich auf den Verzehr von Bananen und Walnüssen vor und während der Harnsammelperioden verzichtet werden, da die oberen Normgrenzen im Harn überschritten werden könnten. Ein Verzicht auf Kaffee und Ananas in normalen Mengen ist nicht erforderlich. Es besteht kein Anlaß, weiterhin die bisherigen umfangreichen Restriktionen der übrigen Nahrungsmittel beizubehalten.