A three-year follow-up on a child with low level trisomy 8 mosaicism which was diagnosed prenatally

We report on a case of trisomy 8 mosaicism detected prenatally in a single clone of amniotic fluid culture, and confirmed on fetal blood and on peripheral lymphocytes after birth. A follow-up was performed over 3 years, showing a clinically normal female with cognitive, neuropsychological, and linguistic development in a normal range.     

Prenatal diagnosis of congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency by steroid analysis in the amniotic fluid of mid-pregnancy: Comparison with HLA typing in 17 pregnancies at risk for CAH

Amniotic fluid (AF) levels of 17-hydroxyprogesterone (17OHP) and testosterone (T) were determined at 16–17 weeks in 17 pregnancies at risk for CAH and results compared to 75 normal controls. The fetus was predicted to be unaffected in 12 cases on the findings of normal AF levels of both 17OHP and T and the latter allowed a correct prediction of fetal sex in all instances. HLA typing confirmed normality in 12 cases revealing 5 carriers, 5 homozygous normal and 2 indeterminate. Steroid levels of the 2 groups were similar. Three fetuses were predicted to be CAH affected on unambiguously high levels of 17OHP and T (in female only). HLA typing was in agreement, and the diagnosis was confirmed in 2 abortuses and a female newborn by physical and hormonal studies. In the last 2 cases AF levels of OHP and T were normal but HLA (A/B/C) genotypes were identical to the CAH affected siblings. Normal physical and hormonal findings in the 2 aborted fetuses would exclude the possibility of an in utero virilizing form of CAH. The discrepancy could be explained on the basis that the fetuses had an allelic form of 21-hydroxylase deficiency or on the basis of recombination (not fully tested). It is concluded that a fully informative prenatal diagnosis of CAH should not rely entirely on HLA typing but on hormonal studies.     

多级模糊模式识别方法用于湖泊水质评价

进行模糊综合评估的应用与研究很多，在那些方法中主要应用最大隶属度原则进行最后的评定，但是湖泊水质评价涉及到多样点多项指标等多因素，一般模糊综合评价方法中的最大隶属度原则不能适用。本文利用多级模糊模式识别方法的基本理论，通过多目标优选，给出了更加合理、科学的评价模型；利用该模型我们对武汉市东湖水质监测结果做出了较为合理的评价。     

Amniotic fluid alpha-fetoprotein levels and prenatal diagnosis of autosomal trisomies

Pregnancies with fetal trisomy 21 have been associated with low amniotic fluid alpha-fetoprotein levels (AFAFP). This observation led to the suggestion that low AFAFP levels be used as a criterion for completion of a chromosomal analysis in patients who are not otherwise at increased risk for a fetal chromosome abnormality and in whom karyotyping might not have been completed for economic reasons. In order to assess the usefulness of such criteria, we reviewed the AFAFP levels of 90 cases of fetal trisomy 21, 23 cases of trisomy 18, and 10 cases of trisomy 13. These were compared with 2400 control samples with normal chromosome constitution. AFAFP levels were generally lower in pregnancies with trisomy 21, showing a median value of 0·72 MoM. However, 40 per cent of the trisomy 21 samples had AFAFP values greater than 0·8 MoM and 20 per cent were over 1·0 MoM. These data imply that over 50 per cent of Down syndrome cases might have been missed using a cut-off level of 0·70 MoM for completion of chromosome analysis. Using a higher cut-off level will leave only a small percentage of samples unkaryotyped. The distribution of AFP levels in trisomy 13 and 18 is no different from controls; we therefore believe that fetal karyotyping should be completed in every amniotic fluid sample obtained.     

中─高级变质相中水热流体的形成与作用

固体地壳中流体是普遍存在的，中—高级变质相中的矿物并非只发生晶体塑性变形，溶解和溶移作用在非糜棱岩化岩石中占主导地位，因为高温高压环境下存在的水热流体，在变质变形作用中起着至关重要的作用。在周围分布有网络状进进剪切带的递进缩短带中，与应交梯度有直接关系的单个矿物的位错密度梯度在其晶体边缘形成，产生了化学位梯度，从而使矿物边缘发生溶解。变形分解作用是产生这一过程的动力，并为流体汇聚形成水热循环系统提供了空间。     

金堆城超大型钼矿床水-岩δD-δ~(18)O同位素交换体系理论模型及成矿流体来源

基于水-岩δD-δ18O同位素交换体系理论模型的建立和计算，对金堆城超大型斑岩钼矿四个不同成矿期中成矿流体的演化和来源进行了研究，发现在成矿前期和早期，成矿流体为岩浆水与围岩在较低水／岩比值（0．1W／R＞0．001）和中、高温（t=250～500℃）条件下反应后的残余流体，而主成矿期和成矿晚期的成矿流作为大气降水在相对较高水／岩比值（0．5＞W／R0．1）和中、低温（t＝150～310℃）条件下与围岩反应后的残留流体。大气降水在金堆城钼矿成矿过程中起了重要作用。在主成矿期水／岩比值达到最高。     

Amniotic fluid fibrinolytic system in fetal neural tube defects

Second trimester amniotic fluid fibrinolytic system was examined in normal pregnancies and those complicated by anencephaly, spina bifida and fetal chromosome abnormalities. No significant difference was demonstrated between the fibrinolytic systems from normal pregnancies and those complicated by fetal chromosome abnormalities. In pregnancies complicated with anencephaly and spina bifida no significant difference was demonstrated for alpha-1-antitrypsin, alpha-1-antichymotrypsin and urokinase. Plasminogen was significantly lower (p < 0.02) and plasmin significantly higher (p < 0.001) than levels from normal amniotic fluid. Alpha-2-macroglobulin, fibrinogen, FDP-D and FDP-E were detected only in pregnancies complicated with anencephaly and spina bifida.     

超临界二氧化碳流体萃取土壤中有机污染物的研究进展

就近年来人们利用超临界二氧化碳流体对有机污染物污染的土壤所做的研究工作以及所取得的成果进行了总结。     

连杆多工步弯曲模设计

介绍了一种原理和结构都较新颖的连杆弯曲模的设计方法和使用特点.     

Renatal diagnosis of mosaic tetrasomy 12p/trisomy 12p by fluorescent in situ hybridization in amniotic fluid cells: A case report of pallister–killian syndrome

A prenatally detected case of a rare mosaic tetrasomy 12p/trisomy 12p is reported, presenting as the well-known accessory isochromosome 12p and a supernumerary single 12p marker in 17/24 and 6/24 clones of cultured amniotic fluid cells, respectively. The chromosomal nature of both marker chromosomes was investigated in cultured amniotic fluid cells by fluorescent in situ hybridization with various probes: the 12-centromeric probes pa12H8 and D12Z3, a whole chromosome 12 paint, and the chromosome 12p-specific paint M28. DNA analysis revealed a maternal origin of the extra 12p material. After counselling, the parents requested termination of pregnancy. Inspection and autopsy of the fetus revealed many of the dysmorphisms and internal structural abnormalities of the Pallister–Killian syndrome.