磁共振在胎儿中枢神经系统畸形诊断中的应用研究

目的探讨胎儿磁共振在产前胎儿中枢神经系统畸形诊断中的应用方法从2005年8月-2006年5月期间在上海市第一妇婴保健院产前诊断中心经超声检查诊断或怀疑有神经系统畸形的39例胎儿，在超声检查后2天内进行MRI检查并作出诊断。包括轻度脑室扩张8例，重度脑室扩张7例，后颅凹轻度增宽11例，重度增宽7例，其他各种畸形6例。结果对8例轻度脑室扩张均作出准确诊断，诊断准确率100％，对7侧重度脑室扩张胎儿有6例作出病因诊断。17例后颅凹增宽胎儿，11例轻度增宽磁共振未发现异常，7例重度增宽均作出病因诊断。其他6例各种脑脊柱畸形均作出准确诊断。结论磁共振可以清晰显示胎儿脑实质，脑室系统形态与脑中线结构，对于胎儿中枢神经系统畸形的病因诊断提供重要依据。磁共振在胎儿中枢神经系统畸形方面的诊断方面应该推广应用。     

胎儿颅内出血的产前超声影像分析

目的探讨产前系统超声对胎儿颅内出血的诊断价值。方法回顾性分析我院诊断的27例胎儿颅内出血的超声特征性表现。结果超声诊断胎儿颅内出血I级17例,超声声像图示颅内出血仅限于室管膜下;其中3例为新鲜出血,超声声像图示高回声区,4例出血区部分液化,超声声像图示混合性回声区;10例出血区完全液化,超声声像图示囊性无回声区。异常回声区大小3-21mm。颅内出血Ⅱ级7例,均为单纯脑室内出血,超声声像图示侧脑室内高回声区,其中4例单侧脑室内显示高回声区,3例双侧脑室内显示高回声区,双侧侧脑室宽度均小于15mm。胎儿颅内出血Ⅲ级2例,均伴脑室扩张,2例均为单侧脑室内出血。胎儿颅内出血Ⅳ级1例,为脑室周围实质内大范围出血。超声声像图示脑室周围实质内高回声区,彩色多普勒血流成像示异常占位回声区内无明显彩色血流信号。结论产前系统超声详细扫查胎儿颅内结构,可以直观的显示胎儿颅内出血病灶,产前及早准确地诊断胎儿颅内出血,准确的评估胎儿颅内出血的分级,对孕妇早期临床干预治疗并予以适当的产前咨询至关重要。     

超声测量胎儿侧脑室轻度增宽与临床预后的相关性分析

目的探讨胎儿轻度侧脑室增宽与临床预后之间的关系。方法选择产前检查后发现的胎儿侧脑室后角轻度增宽34例作为观察组,胎儿正常的30例作为对照组,进行新生儿神经行为测定(NBNA)评分,两组比较分析。结果34例胎儿侧脑室轻度增宽中33例做了染色体检查,仅1例染色体为21-三体,1例未查染色体;有3例在妊娠中期被首次发现后因加重而引产;与胎儿性别无统计学意义;观察组的出生后新生儿NBNA评分较对照组高,有统计学意义。结论侧脑室轻度增宽的胎儿,尤其是>12mm的胎儿,出生后发生神经系统发育不良的风险较正常者增加;侧脑室轻度增宽与胎儿性别无关;因胎儿脑室扩张是一动态的过程,如不合并染色体和其他的结构异常,大部分预后良好。     

超声诊断胎儿单纯性肺动脉狭窄产前产后对照分析及漏诊应对

目的通过产前产后对照分析胎儿单纯性肺动脉狭窄超声声像图特征,探讨轻度肺动脉狭窄产前漏诊原因及应对措施。方法总结并分析了2011年1月~2014年6月期间在我院发现17例单纯性肺动脉狭窄其产前产后的超声资料。结果产前共发现10例肺动脉狭窄,9例为中重度肺动脉狭窄,1例为轻度肺动脉狭窄。产前漏诊肺动脉狭窄7例,均为轻度肺动脉瓣狭窄。结论产前胎儿中重度肺动脉狭窄有特征性声像图改变,诊断难度不大,轻度肺动脉狭窄不易诊断,但通过观察肺动脉瓣活动、肺动脉流速及有无三尖瓣反流可以使一部分轻度肺动脉狭窄的胎儿在产前得到倾向性诊断。     

MRI辅助诊断胎儿脑积水的价值

目的探讨MRI(磁共振,magnetic resonance imaging)在胎儿脑积水的早期诊断与判断预后的价值。方法对26例产前经B超检查发现或怀疑为脑积水的胎儿(轻度25例,重度1例)进行MRI扫描,予查血染色体,生后定期复查患儿脑积水变化,并根据生长发育测量指标与贝利发育量表评价生长发育情况。结果经MRI检查,确诊轻中度脑积水23例,重度2例,正常1例,其中有4例B超疑似的轻度脑积水经MRI确诊,有1例经MRI扫描未发现脑积水;继续妊娠18例,1例因"肺发育不良"死亡,存活17例;5例在生后6月或纠正胎龄6月时经贝利小儿智力发育量表测定稍低于正常,经功能锻炼和/或药物治疗后再次贝利发育量表测定均达到正常水平,12例测定正常。结论在诊断胎儿中枢神经系统畸形时,MRI具有较高的阳性率,能准确的反映脑积水的程度,未合并其他畸形且不伴有染色体异常的单纯性轻、中度胎儿脑积水预后较好,MRI可作为胎儿脑积水产前诊断的重要补充。     

轻度侧脑室增宽胎儿的产前超声诊断和临床评估

目的：评估胎儿轻度侧脑室增宽诊断在临床预后判断中的价值。方法选择2013年1月至2014年6月本院收治的51例侧脑室增宽的孕妇资料,对轻度侧脑室增宽的胎儿进行系统的超声检查、染色体核型分析、MRI检查、随访观察等,最后进行总结分析。结果经彩色多普勒超声诊断侧脑室增宽胎儿共51例,轻度侧脑室26例,其中轻度侧脑室增宽合并其他结构畸形的发生率46.0%(12/26);轻度侧脑室增宽胎儿合并染色体异常发生率为11.5%(3/26)。结论超声对筛查胎儿轻度脑室扩张具有重要诊断价值,对于高龄孕妇及伴发其他结构异常的轻度侧脑室增宽建议行染色体核型分析。     

胎儿左位上腔静脉的超声诊断价值

目的探讨胎儿永存左位上腔静脉的超声声像图特征及诊断价值。方法回顾性分析25例经胎儿心脏超声检查诊断为永存左位上腔静脉的超声图像与回访情况。结果 25例资料均表现为胎儿冠状静脉窦扩张,三血管-气管平面呈现＂四血管＂征,超声诊断15例为单纯永存左位上腔静脉,10例为永存左位上腔静脉合并其它心血管畸形,24例均随访证实,1例失访除外。结论永存左位上腔静脉的胎儿心脏超声声像图具有特征性,诊断准确率高,有较大的诊断价值。     

胎儿泌尿系畸形的超声诊断分析

目的探讨胎儿泌尿系畸形的超声声像图特征及临床意义。方法对56例胎儿泌尿系畸形的超声图像进行回顾性分析,并与产后结果进行对照。结果56例胎儿泌尿系畸形于28孕周前超声诊断26例,28孕周后诊断30例,其中肾积水33例,婴儿型多囊肾2例,成人型多囊肾3例,多囊性肾发育不良10例,孤立肾3例,重复肾2例,盆腔异位肾2例,膀胱尿囊囊肿1例。结论产前超声诊断胎儿泌尿系畸形,依靠特有的声像图改变及合并其他畸形,对胎儿预后判断、临床及早采取措施提供依据,这对优生优育及新生儿早期治疗有重要临床实用价值。     

B超诊断胎儿染色体异常致畸形一例

病例 :　患者为来本中心咨询的孕妇 ,年龄 34岁 ,妊娠2 6w ,要求为其胎儿做产前诊断性检查。首先行超声检查 :胎儿为男性 ,胎动活跃 ,头大 ,双顶径为 71mm ,头围为 2 38mm ,可见双侧脑室扩张 ,其内为液性暗区 ,胼胝体悬浮于其中 (如图 1)。左侧脑室液性暗区周长为 90mm ,右侧脑室液性暗区周长为 116mm。腹围 2 18mm ,股骨径为 4 4mm ;胎心规律 ,心率为 138次 /min ;胎盘为前右侧壁 ,厚度为 38mm ;羊水多 ,深径为 10 2mm ;胎儿体重约 1971g。未见其他明显畸形表现。超声诊断 :1.妊娠 2 6w余 ,单活胎。 2 .胎儿发育异常合并脑积水。 3.羊水过…     

胎儿冠状静脉窦扩张的超声诊断技术

目的探讨超声对胎儿冠状静脉窦扩张的诊断价值;方法分析产前超声诊断的6例胎儿冠状静脉窦扩张,总结其声像图特点;结果 6例确诊为冠状静脉窦扩张的胎儿,其中4例确诊为永存左上腔静脉,2例确诊为心内型完全肺静脉畸形引流。结论超声检查能准确判断胎儿冠状静脉窦扩张,通过进一步分析其原因,可以诊断相关胎儿先天性心脏、血管畸形,对胎儿出生后治疗及预防起到重要作用。     

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.