灰关联分析在故障树诊断中的应用

介绍一种灰色诊断法。在故障诊断模式识别中,运用灰关联分析,依据故障树的底事件重要度,通过关联度计算及排序,对故障树分析中,各种故障模式发生的可能性大小作出了准确的判断,从而为处理事故的先后、缓急提供了依据。     

测定单个粒子的薄膜法及其应用

本文介绍改进后的薄膜法,主要是形态分析法和复合薄膜法。它们都是基于粒子和薄膜反应生成物的形态特征通过电镜来确定粒子成分的。前者可以检测单个酸性粒子,检出下限为７ ×１０－ １９ｇ;后者能同时检出一个粒子中所含的ＮＯ－３ 和ＳＯ２ －４ ,检出下限分别为３ ×１０－ １５ｇ 和７ ×１０－ １８ｇ。利用该方法对广州大气粒子进行了观察,结果表明改进后的薄膜法完全适用于对单个粒子的观察和测定。     

自然灾害综合区划的基本类别及定量方法

依据区域灾害系统论原理,提出了以灾害强度、灾害势、抗灾力和灾度４个状态参量描述的区域自然灾害系统状态,建议以之为基础,将自然灾害综合区划分为灾害强度区划、灾害势区划、抗灾力区划和灾度我划４个基本类别、并结合自然灾害综合区划定量方法的讨论,以实例说明了上述基本类别类别划分的可行性。     

对华北GPS监测区近期地壳应变连续分布的估计

直接利用华北ＧＰＳ监测网各个测点的位移观测值,借助高斯型位移协方差函数通过最小二乘配置建立连续分布的位移函数,并根据应变与位移的偏导关系,对华北ＧＰＳ监测区１９９２～１９９５年、１９９５～１９９６年最大剪应变及面膨胀连续分布进行估算,得到其应变场动态图像。     

Trisomy 15 mosaicism owing to familial reciprocal translocation t(1;15): implication for prenatal diagnosis

We describe a 4-year-old female child with severe global mental retardation, myoclonic epilepsy, proximal hypotonia and dysmorphisms, whose prenatal diagnosis following amniocentesis revealed a constitutional female karyotype carrying a t(1;15)(q10;p11) familial reciprocal translocation. Post-natal high-resolution karyotype, Fluorescence in situ hybridization (FISH) screening for subtelomeric rearrangements, VNTR search for UPD15 in the blood and fibroblast, and WCP1 and 15 in the mother, failed to provide an explanation for the complex clinical phenotype of the proband. Since the pachytene configuration of the translocated chromosomes defines a high probability of 3:1 segregation, an extensive workup was undertaken to look for a possibly cryptic mosaicism. Four percent of the cells with trisomy 15 was found in the peripheral blood lymphocytes examined by classical cytogenetic technique and interphase FISH analysis. The clinical features associated with cryptic trisomy 15 mosaicism and the problems concerning prenatal diagnosis and genetic counselling for carriers of translocations at high risk of 3:1 segregation are discussed. Copyright © 2006 John Wiley & Sons, Ltd.     

Hyper-echogenic colon: a prenatal sign of cystinuria?

We suggest the term ‘hyper-echogenic colon’ to describe a hyperechoic foetal colonic content with no other intestinal abnormality. This is a rare pattern, which to our knowledge, has never been correlated with a specific pathology. The accidental observation of a cystine kidney stone in an infant who presented with this sign during the prenatal period made it possible to diagnose this disease retrospectively in two other children. Copyright © 2006 John Wiley & Sons, Ltd.     

Rapid interphase analysis for prenatal diagnosis of translocation carriers using subtelomeric probes

Interphase fluorescence in situ hybridization (FISH) has become an accepted laboratory technique for the rapid and preliminary prenatal assessment of chromosome aneuploidy. The introduction of subtelomeric FISH probes now allows for the molecular–cytogenetic analysis of terminal chromosome rearrangements. In a prospective study, we examined the prenatal use of subtelomeric probes on interphase cells to rapidly detect the carrier status of a fetus when a parent carried a known reciprocal or Robertsonian chromosome translocation. Three of the cases were identified as being abnormal. All cases were confirmed by routine cytogenetic analysis. These findings clearly demonstrated the utility of this technique and these probes to rapidly and correctly identify balanced and unbalanced chromosome anomalies of a fetus that could result from parental translocations. Copyright © 2002 John Wiley & Sons, Ltd.