Translocation trisomy 21 in CVS not found in embryoblast: Three different cell lines in CVS,amnion- and placental culture

Chorionic villus samples from a healthy pregnant female were obtained for first-trimester prenatal diagnosis. A translocation trisomy 21 was diagnosed. A consecutive amniocentesis revealed a normal male karyotype. At term a healthy boy was born. Cytogenetic analysis from cord blood showed a regular karyotype of 46,XY, whereas in term placenta a pathological karyotype of 47,XY,+mar was found.     

Prenatal detection of trisomy 9 mosaicism

Chromosomal mosaicism in amniotic fluid cells poses a serious dilemma in prenatal diagnosis since the observation may represent: (1) pseudomosaicism—an inconsequential tissue culture artefact; or (2) true mosaicism—occurring in approximately 0.0 per cent of amniocenteses with a significant impact on pregnancy outcome. Mosaicism for trisomy 9 was observed in an amniotic fluid specimen obtained for advanced maternal age with two cell lines [46,XX (46 per cent)/47,XX, + 9 (54 per cent)] present in each of four culture flasks. Since more than 75 per cent of newborns with trisomy 9 mosaicism have complex cardiac malformations, a fetal echocardiogram was obtained at 20 weeks' gestation and interpreted as normal. A fetal blood sample (22 weeks' gestation) disclosed only a single trisomy 9 cell among the 100 metaphases analysed. However, a second fetal echocardiogram performed at the time of blood sampling suggested a non-specific cardiac anomaly. Fetal autopsy following elective pregnancy termination revealed several malformations including severe micrognathia, persistence of the left superior vena cava, and skeletal anomalies. Cytogenetic studies of cell cultures derived from several fetal tissues demonstrated trisomy 9 ranging from 12 to 24 per cent.     

First trimester diagnosis of adenosine deaminase deficiency

Adenosine deaminase deficiency has been detected in the first trimester by direct analysis of enzyme activity in chorionic villi in a pregnancy at risk. Data for purine nucleoside phosphorylase activity in chorionic villi from healthy controls in the first trimester are also presented and should allow equally rapid diagnosis of this disorder.     

Prenatal diagnosis of dyssegmental dwarfism

Fetal ultrasound evaluations at 18 weeks gestation on two consecutive pregnancies of a woman who previously gave birth to a stillborn female affected with dyssegmental dwarfism, resulted in accurate diagnoses of unaffected and affected fetuses. Marked disorganization of vertebral bodies and associated encephalocele found in two affected cases in this family are consistent with the original observation of this new syndrome as two major aspects which differentiate it from other forms of lethal dwarfism.     

基于模糊相似优先比的供水管网渗漏同步诊断*

为加强城市供水管网渗漏诊断能力,采用基于模糊相似优先比的漏损判别方法实现供水管网漏损定位及漏损程度的同步诊断。通过MATLAB软件调用最新版EPANET V2.2建立供水管网模型,在管段中间加入扩散器模拟单次渗漏事件,通过更改扩散器系数实现渗漏量的控制;基于压力驱动水力分析得到各节点压力变化,遍历模拟各管段漏损后,通过建立节点压力灵敏度矩阵,采用K均值聚类法进行监测点布置;在此基础上,在易渗漏管段模拟产生不同渗漏级别的渗漏事件,以监测点压力变化值构建源范例库,在熵权法的基础上,采用模糊相似优先比方法同步诊断渗漏位置及渗漏程度。以某一实际管网为例,模拟产生50例历史渗漏事件,采用模糊相似优先比同步诊断新渗漏事件的渗漏位置及渗漏程度,并对比3种权重方法。结果表明:模糊相似优先比法可有效地实现渗漏定位与渗漏程度的同步诊断。     

河北省北部中雨后的强沙尘暴成因分析

本文利用常规观测资料和数值模拟的方法,对2002年4月6日发生在河北省北部中雨后紧接着出现的强沙尘暴天气过程进行了分析和诊断.结果表明:强冷空气爆发南下、致使斜压能量释放、地面气旋发展是有利于本次沙尘暴天气产生的大尺度背景;高空急流的高度迅速下降代表了动量下传,这是形成大风,产生沙尘暴的动力原因;在高空急流下方,日间湍流加强,湍流涡旋的下沉气流也是沙尘暴形成的动力因子,农谚称它是"刮地风",可见其机制作用;降水结束后,天气转晴,并出现6～7级西北风,在西北大风出现6个多小时的短时间内就能迅速使土表蒸发变干出现沙尘暴.     

Prenatal diagnosis of hemoglobinopathies in twin pregnancies by double simultaneous fetoscopy

A new technique for sampling fetal blood in twin pregnancies using two fetoscopes simultaneously is described. Two fetoscopes were inserted, one after the other, into both amniotic cavities and fetal blood samples were obtained from either the chorionic plate vessels or the umbilical cord insertion area. The observation of the bright tip of the second fetoscope behind the septum using the first fetoscope assured the successful entry of the two fetoscopes into the two different amniotic sacs. This technique was performed on 15 out of 17 patients. In all patients the fetuses were at risk of β-thalassemia major. Sampling was successful in all cases. Double simultaneous fetoscopy seems to be a safe and accurate technique without technical problems or complications. The simultaneous use of two fetoscopes opens new possibilities in intrauterine fetal surgery and research.     

海洋平台不间断电源锂离子蓄电池故障诊断

目的针对海洋平台不间断电源(Uninterrupted Power Supply,UPS)可靠性要求高,工作环境复杂等特点,建立一种基于多模型粒子滤波的海洋平台UPS故障诊断系统。方法该系统基于飞思卡尔芯片建立各模块间的通信,并根据锂离子电池故障实验后的参数建立故障模型,通过条件概率对海洋平台UPS的正常、过充、过放和过热四类状态进行诊断,提高海洋平台UPS的可靠性。结果使用部分实验所得数据测试了诊断系统对单一故障和复合故障诊断的结果,得到诊断算法对过充、过放和过热三种故障的诊断时间在5 s以内,准确率极高。结论测试结果显示,设计得到的海洋平台UPS故障诊断系统可以准确迅速地诊断故障类型。     

Applicability of 19–DEJ-l monoclonal antibody for the prenatal diagnosis or exclusion of junctional epidermolysis bullosa

Recently a monoclonal antibody (19–DEJ-l) was produced with binding specificity for the mid-lamina lucida of the skin dermoepidermal junction, in very close association with overlying hemidesmosomes. Since skin cleavage occurs within the lamina lucida in the inherited blistering disorder, junctional epidermolysis bullosa (EB), and is associated with aberrations in the morphology and/or number of hemidesmosomes in such tissue, we have sought to determine whether this monoclonal antibody could be used for prenatal diagnosis. Fetoscopy-directed skin biopsies were obtained from two fetuses at risk for junctional EB and post-mortem samples from two other fetuses with the Herlitz type of junctional EB, the latter after prenatal diagnosis by electron microscopy and termination of each pregnancy. Specimens were examined in part by light and electron microscopy for evidence of skin cleavage or other alterations in morphology, and in part by indirect immunofluorescence for altered basement membrane antigenicity. Three of four fetuses were shown to have intra-lamina lucida blister formation indicative of, and hemidesmosome hypoplasia proving, junctional EB. Each was also shown to lack expression of GB3 and 19–DEJ-l antigens, consistent with findings noted postnatally in junctional EB; diagnosis was confirmed in each at the time of therapeutic abortion. A fourth fetus had no abnormalities detected; lack of disease involvement was confirmed at the time of delivery, and subsequently over 8 months of careful serial evaluation. We conclude that 19–DEJ-l monoclonal antibody is an accurate and sensitive irnmunohistochemical probe for junctional EB, and may be employed in the prenatal diagnostic evaluation of fetuses at risk for this disorder.     

Early prenatal sonographic appearance of rare thoraco-abdominal eventration

Fetal ventral wall malformations may be diagnosed prenatally with ultrasound. These include omphalocele, gastroschisis, or even thoracic defects with or without ectopia cordis. It is important whenever such a defect is found to carefully define the full extent of the lesion prior to parental counselling. Described and illustrated here is the prenatal diagnosis with real-time ultrasound at 17 weeks gestation of a rare thoraco-abdominal ventral wall defect including omphalocele, bifid sternum, diaphragmatic aplasia, and pericardial aplasia with incomplete ectopia cordis. The technique is described and the importance of the complete, accurate delineation of anatomic malformations is emphasized.