四川黄龙沟天然水中的深源CO_2与大规模的钙华沉积

在有大规模钙华沉积的四川黄龙沟中,使用化学成分数据以及碳氧稳定同位素组成对其水文地球化学特征进行了分析研究。研究区钙华沉积的地表溪流水质基本上受到两种水混合的制约,即断层泉水和山区的融雪(冰)水。泉水中含有高浓度的经由断层提供的CO2,结果高浓度的溶解CO2使得其溶解的碳酸盐岩比普通的岩溶泉溶解的碳酸盐岩高得多,同时也导致硅酸盐岩的溶解。黄龙沟中上游的泉水相对于方解石接近于平衡。溶解无机碳(DIC)的浓度和它们的δ13C值是大约由c=0.02mol·L1δ13C=-3‰的CO2(aq)与含有δ13C=+3‰的碳酸盐岩在封闭系统条件下反应的结果。估计这些CO2中约有70%来自上地幔。所有泉水的水化学数据均落在高岭石稳定域内,但对Na长石和Ca长石具有侵蚀性。由于这些长石矿物的溶解速率太慢,所以水中的化学成分远离长石稳定域。地表溪流的DIC种类之间达到同位素平衡,在不同观测点发现的δ13CDIC变化主要是由于从水中释放出的CO2的程度不同引起的。水样的δ18O值与其采集点的海拔高度之间存在线性关系;研究区的地表溪流的氧同位素组成受到蒸发的制约。在流经钙华沉积物的地表溪流中白天和夜晚的水化学及pH的日变化表明生物作用促进了碳酸盐的沉积,尽管作用不显著。据估计研究区碳酸钙的日沉积速率是4778kg·km2,即约1mm·a1。     

Prenatal diagnosis of 45,X/46,XY mosaicism—A review and update

A total of 54 cases with prenatal diagnosis of 45,X/46,XY mosaicism was reviewed. Of 47 cases with information on phenotypic outcome, 42 cases (89·4 percent) were reported to be associated with a grossly normal male phenotype. Three cases (6·4 percent) were diagnosed as having mixed gonadal dysgenesis with internal asymmetrical gonads. Two other cases were questionably abnormal. In 40 cases with successful cytogenetic confirmatory studies, the overall rate of cytogenetic confirmation of 45,X/46,XY from tissues derived from fetus/liveborn/placenta was 70·O per cent. This review shows a major difference in the phenotypic outcome between postnatal diagnosis and prenatal diagnosis. Due to the ascertainment bias, almost all known patients with postnatal diagnosis of 45,X/46,XY mosaicism are phenotypically abnormal. Therefore, caution must be used in translating information derived from postnatal diagnosis to prenatal diagnosis. This review calls for collection of more data on 45,X/46,XY mosaicism diagnosed prenatally, more long-term follow-up of liveborn infants, and pathological studies of all abortuses. Emphasis is placed also on the importance of genetic counselling, ultrasound examination, and cytogenetic confirmation.     

Informational uncertainties of risk assessment about accidents of chemicals

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Serum PAPP-A and free β-hCG are first-trimester screening markers for down syndrome

Serum measurements of pregnancy-associated plasma protein A (PAPP-A) and the free β-human chorionic gonadotrophin (hCG) subunit were made in 13 women with Down syndrome (DS) pregnancies and six other women with fetal aneuploidy ascertained at chorionic villus sampling (CVS), as well as 89 women with contemporaneous normal control pregnancies. Median serum PAPP-A measurements (0·31 MOM, 95 per cent confidence interval (CI) 0·22–0·65 vs. normal 1·06, 95 per cent CI 0·89–1·20) were lower and free β-hCG subunit measurements (1·13 MOM, 95 per cent CI 0·93–2·63 vs. normal 0·91, 95 per cent CI 0·79–1·03) were higher at statistically significant levels. Receiver operator characteristic (ROC) curves showed that the highest sensitivity for detection, 71·2 per cent (95 per cent CI 54·7–87·6 per cent), was for depressed PAPP-A levels; the combination of low serum PAPP-A levels, maternal age, and elevated free β-hCG levels yielded a detection rate of 78·9 per cent (95 per cent CI 64·9–92·8 per cent) of the affected pregnancies at 8–12 weeks' gestation.     

A revisit of trisomy 20 mosaicism in prenatal diagnosis—an overview of 103 cases

One hundred and three cases with prenatal diagnosis of trisomy 20 mosaicism through amniocentesis were reviewed. Approximately 90 per cent (90/101) of the cases were associated with grossly normal phenotype. It is likely that, in the majority of cases, cells with trisomy 20 were extraembryonic in origin or largely confined to the placenta. However, in some cases, the cells with trisomy 20 were confined to certain specific fetal organs or tissues such as kidney, skin, etc. Cytogenetic follow-up studies in liveborns should include a culture from urine sediment.     

Effects of Oxalis pes-caprae L. invasion in olive groves

The present work aimed at studying the effect of Oxalis pes-caprae invasion in the herbaceous understory of olive groves in the island of Lesvos, Greece. The number of species, their biomass and dead plant material production was followed throughout the vegetative period in invaded and non-invaded plots. Species richness in the area invaded by O. pes-caprae gradually declined and was significantly smaller in comparison with the natural vegetation. Although biomass was equal in the invaded and non-invaded areas 1 month after germination, annual net primary production (NPP) was three times smaller in the invaded than the non-invaded area. Moreover, aboveground dead plant material of O. pes-caprae decomposed faster than a mixture of litter species of the natural vegetation. Lower biomass production in combination with increased decomposition rates of O. pes-caprae is expected to lead to reduced soil C sequestration in invaded areas. It was concluded that although O. pes-caprae does not add a new life form or functional type to the invaded herbaceous system it has considerable impacts on the diversity and ecosystem functions in olive groves.     

Evaluation of prenatal diagnosis of congenital heart disease

Prenatal diagnosis performed by fetal ultrasound scan is now a routine part of antenatal care in many countries. That an increasing number of fetal anomalies may be detected on prenatal ultrasound is beyond doubt. What is possible is not, however, always practical, especially when congenital heart diseases (CHDs) are concerned and when whole antenatal populations are screened rather than high-risk groups. Thanks to our registry of congenital anomalies, a retrospective study was undertaken to evaluate the prenatal detection of CHDs by ultrasound scan in 131 760 consecutive pregnancies of known outcome from 1979 to 1988. Only 84 out of 912 malformed fetuses with CHDs without chromosomal anomalies were detected (9.2 per cent). The sensitivity of detection varied from around 38 per cent for malformations such as hypoplastic left heart and single ventricle to around 5 per cent for ventricular and atrial septal defects. The effectiveness of the detection of some forms of major congenital heart disease has increased dramatically since 1987 by including routine examination of the four-chamber view and of the inflow and outflow tracts of the fetal heart. Our results stress the need to obtain a definite clear four-chamber view, to perform scans at ⩾ 18 weeks of gestation, and to train sonographers in order to improve the prenatal detection of CHDs.     

High levels of maternal serum alpha-fetoprotein and human chorionic gonadotrophins leading to the diagnosis of combined neural tube defect and partial mole

A case of combined partial mole and neural tube defect is presented. The detection of high levels of both maternal serum (MS) alpha-fetoprotein (AFP) and human chorionic gonadotrophin (hCG) during the second trimester led to the ultrasonic demonstration of anencephaly, omphalocele, and partial mole. This is the first report of combined elevation of MSAFP and MShCG.     

Proposed guidelines for diagnosis of chromosome mosaicism in amniocytes based on data derived from chromosome mosaicism and pseudomosaicism studies

Currently, accepted protocol which has been developed at the Prenatal Diagnosis Laboratory of New York City (PDL) requires that when a chromosome abnormality is found in one or more cells in one flask, another 20–40 cells must be examined from one or two additional flasks. Chromosome mosaicism is diagnosed only when an identical abnormality is detected in cells from two or more flasks. In a recent PDL series of 12 000 cases studied according to this protocol, we diagnosed 801 cases (6.68 per cent) of single-cell pseudomosaicism (SCPM), 126 cases (1.05 per cent) of multiple-cell pseudomosaicism (MCPM), and 24 cases (0.2 per cent) of true mosaicism. Pseudomosaicism (PM) involving a structural abnormality was a frequent finding (2/3 of SCPM and 3/5 of MCPM), with an unbalanced structural abnormality in 55 per cent of SCPM and 24 per cent of MCPM. We also reviewed all true mosaic cases (a total of 50) diagnosed in the first 22000 PDL cases. Of these 50 cases, 23 were sex chromosome mosaics and 27 had autosomal mosaicism; 48 cases had numerical abnormalities and two had structural abnormalities. Twenty-five cases of mosaicism were diagnosed in the first 20 cells from two flasks, i.e., without additional work-up, whereas the other 25 cases required extensive work-up to establish a diagnosis (12 needed additional cell counts from the initial two culture flasks; 13 required harvesting a third flask for cell analysis). Our data plus review of other available data led us to conclude that rigorous efforts to diagnose true mosaicism have little impact in many instances, and therefore are not cost-effective. On the basis of all available data, a work-up for potential mosaicism involving a sex chromosome aneuploidy or structural abnormality should have less priority than a work-up for a common viable autosomal trisomy. We recommend revised guidelines for dealing with (1) a numerical versus a structural abnormality and (2) an autosomal versus a sex chromosome numerical aneuploidy. Emphasis should be placed on autosomes known to be associated with phenotypic abnormalities. These new guidelines, which cover both flask and in situ methods, should result in more effective prenatal cytogenetic diagnosis and reduced patient anxiety.