中山地区新生儿先天性肾上腺皮质增生症的筛查结果分析

目的探讨中山地区先天性肾上腺皮质增生症（CAH）的发病率及治疗情况。方法2008年8月到2010年9月间采集105320名出生48—72h后的新生儿足跟血3滴于滤纸血片上,采用时间分辨荧光免疫法检测血斑中17α羟孕酮（17-α-OHP）的浓度;可疑阳性的召回复查确诊;确诊为CAH的患儿给予规范治疗。结果筛查新生儿105320例,可疑患儿307例,确诊2例,均为男婴,发病率1／52660。结论中山地区CAH发病率低于全国平均水平,早期诊断与治疗对CAH患儿的愈后十分重要。     

湖南省怀化市先天性甲状腺功能低下的筛查分析

目的 提高人口素质，预防智力障碍，减少残疾儿发病率。方法 在新生儿出生后72h采足跟血3滴，直接滴于美国产S＆S903滤纸上。采用DELFIA法进行TSH检测，确诊用ACS180Plus全自动化学发光分析仪测定血清T3、T4、FT3、FT4、TSH值。结果 ①共收集全市78家医院标本27420份，初筛阳性者65例，发现患儿14例，检出率为1／1958。②检出的CH中男性7例，女性7例，其中农村9例，城市5例。③14例CH患儿分别在生后7—14天内经血清学检查确诊，确诊后立即予以左旋甲状腺素片8—10wg／kg／日进行治疗。患儿在1月左右复查血清T3、T4、FT3、FT4、TSH值均达到正常值，生长发育基本正常。结论 ①我市发病率高于全国统计率，可能与标本量及经济条件有关。而CH发生率以靖州县最高，可能是与该县新生儿筛查率达90％有关。原因需进一步探讨。②农村出生新生儿筛查率低，原因与经济条件有关。③部分筛查有问题的新生儿家长不愿带新生儿来及时确诊，与新生儿家长对疾病的知晓少有关。④筛查结果表明新生儿筛查是早期发现CH的最有效方法，只有早诊断早治疗，才可能避免智力障碍的发生，减少残疾儿，才能提高出生人口素质。     

潮州地区先天性甲状腺功能减低症筛查和随访结果分析

目的对潮州地区先天性甲状腺功能减低症（CH）的筛查和随访结果进行分析。方法测定生后72h新生儿足跟血滤纸干血片的促甲状腺激素（TSH）,TSH大于切值者为筛查阳性,召回测血清FT4和TSH确诊。用左甲状腺素钠替代治疗,并定期随访。结果共筛查新生儿32 682例,检出阳性患儿11例,发病率为1/2971。经治疗,身高和智力发育平均水平达到正常。结论新生儿筛查是CH早期诊断的唯一方法,筛查检出的CH患儿经替代治疗后,智能和体格发育可达正常,治疗越早,效果越好。     

宁波市先天性甲状腺功能低下症筛查分析

目的了解宁波市先天性甲状腺功能低下症(甲低)的筛查率、发病率及探讨其治疗随访的最佳方法,以减少智力障碍的发生。方法1999年1月~2004年9月,采集225 787名出生48~72h后的新生儿足跟血滴于特种滤纸血片上,采用时间分辨荧光测定仪测定血斑中促甲状腺素(TSH)浓度;可疑阳性再召回取静脉血,采用化学发光法检测血清中TSH、T3、T4、FT3、FT4水平;对确诊为甲低的患儿,立即予以甲状腺素片或优甲乐片治疗;定期随访监测其生长和生化指标。结果共筛查225 787例新生儿,年平均筛查率为96.66%;可疑阳性2073例,确诊158例,年平均发病率为0.70‰;甲状腺素片平均治疗49.6天、优甲乐片平均治疗42.2天后血清中TSH、T4、FT4达到正常范围。结论宁波市甲低的发病率高于各国各地区,可能与地理环境、饮食结构、外省籍人口多等因素有关;选用优甲乐片治疗为宜且随访甚为重要。     

武汉地区4万例新生儿先天性甲状腺功能低下筛查

建立新生儿疾病筛查网,采用滤纸干血片法,以出生48小时后新生儿足跟血促甲状腺素（TSH）为检测指标,对武汉地区4万多例新生儿先天性甲状腺功能低下症进地了筛查,对TSH超过正常值者召回复查,测血清T3,T4和TSH,检出13例先天性甲低患儿,发病率为1：3245。确诊后立即治疗,效果较好。提示新生儿甲低筛查是早期发现,及时诊断和治疗的重要措施,能有效的改变甲低患儿的预后。     

广西地区2009年-2013年新生儿先天性甲状腺功能减低症筛查情况分析

目的调查分析广西地区2009年～2013年新生儿先天性甲状腺功能减低症（甲低）的筛查情况,评估新生儿疾病筛查在出生缺陷干预中的重要作用。方法2009年-2013年对广西地区938924例新生儿干滤纸片采用时间分辨荧光法检测促甲状腺素（TSH）,确诊使用化学发光法检测患儿血清中的游离T3（FT3）,游离T4（FT4）以及TSH,同时进行甲状腺显影扫描。结果2009年-2013年广西地区阳性率高,CH高发,总阳性率为1．18％,CH发病率为1／1874,高于全国平均水平。结论广西地区先天性甲状腺功能减低症阳性率、发病率高,通过加强新生儿疾病筛查工作的普及对先天性甲低患儿进行早期诊断、早期治疗,可有效地控制此种出生缺陷给社会和家庭带来的危害。     

先天性甲状腺功能减低症的筛查及临床分析

目的探讨新生儿先天性甲低的发病率、临床体征及治疗情况。方法2000年1月~2006年12月在无锡地区(包括江阴和宜兴)出生的新生儿为筛查对象,出生后72h充分哺乳后采取足跟血,应用DELFIA法检测血斑TSH,并用电化学发光法检测阳性患儿血TSH、T3、T4浓度。阳性患儿给予口服甲状腺素片治疗,并定期对患儿监测TSH以便用药。结果123008例新生儿共检出患儿36例初步计算无锡市新生儿甲低发病率为1/3417。结论开展新生儿甲低筛查和治疗对提高人口素质是必不可少的重要工作。     

三亚市新生儿先天性甲状腺功能低下发病率及影响因素分析

目的了解三亚市新生儿先天性甲状腺功能低下(congenital hypothyroidism,CH)发病率及其影响因素,从而为有针对性地进行早期防治提供理论依据。方法选取2017年01~06月在三亚市妇幼保健院出生的新生儿5179例,并在72h后均予采集足跟内、外侧血,且在规定时间内送达海南医学院遗传代谢筛查中心进行筛检。对筛检阳性者使用化学发光法检测血清中的T4、FT4、T3、FT3及TSH,同时采用彩超检查甲状腺发育情况,随后采集确诊儿母亲和正常产妇资料。结果三亚地区5179例新生儿中CH筛查阳性27例,进一步确诊为CH者4例,其发病率约0.77‰。Logistic回归分析结果显示:孕母的甲状腺功能低下、甲状腺功能亢进、亚临床甲状腺功能减退、文化程度、初产、饮食习惯等是导致新生儿CH发生的独立高危因素(P0.01或0.05)。结论三亚市新生儿CH发病率相对较高,并且影响因素颇多。其中,加强母孕期甲状腺功能异常管理与治疗、提高孕妇对CH认知度以及科学合理膳食是预防CH患儿出生的有效方法。     

134例先天性甲状腺功能低下症患儿的检出与治疗

目的对济宁地区先天性甲低儿进行筛查、防治.方法采用酶免法(ELA)测血中TSH,对可疑者采用放免法测T4和TSH.对279 967例新生儿初筛,阳性者3556例,阳性率1.27%,经复查确诊134例,发病率为4.79/万,男婴57,女婴77例,城区14例,农村120例.对患儿给予L-T4治疗,对不同情况采取不同方法和剂量,取得较满意的结果.     

西安地区新生儿CH和PKU筛查结果分析

目的通过对我院新生儿进行先天性甲状腺功能低下（cH）和苯丙酮尿症（PKU）的筛查,降低缺陷儿发生。方法检测促甲状腺刺激激素（TSH）筛查CH;检测苯丙氨酸（phe）筛查PKU。结果在2287名新生儿中,发现有2例PKU可疑患儿,经复查确诊其中1例为PKU阳性患儿。发现4例CH可疑患儿,复查确诊为0例。结论新生儿疾病筛是早期发现CH、PKU缺陷患儿,使其得到诊治,避免发生身体和智力不可逆的损害的有效方法。在优生优育领域具有不可估量的经济与社会价值。     

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.