Prenatal diagnosis of a mosaic 46,XY/47,X,i (Xq)Y

A case of mosaic 46,XY/47,X,i(Xq)Y is diagnosed at 18 gestational weeks in amniotic fluid cells and confirmed at birth in the lymphocytes of the child. The literature on Klinefelter's syndromes with structural chromosome X rearrangements is reviewed. This is the first case reported of a mosaic isochromosome Xq in a boy.     

First-trimester diagnosis of menkes disease: Intermediate copper values in chorionic villi from three affected male fetuses

Chorionic villus samples with copper contents of 1·91, 4·2, 5·6, and 6·3 ng/mg were observed in four cases with male karyotypes. These values were outside the range for unaffected males (0·30–0·85 ng/mg), and three of them were outside the control range (0·20–2·39 ng/mg). But these three values were below the values previously observed for affected Menkes fetuses (12·0–24·8 ng/mg). Follow-up by ⁶⁴Cu uptake studies on the amniotic fluid cells was performed in three of these cases. A combination of ⁶⁴Cu uptake and chase experiments on the amniotic fluid cells showed more convincingly than ⁶⁴Cu uptake per se the direct copper values of 4·2 and 5·6 ng/mg to correspond to affected fetuses. Amniotic fluid cells from the male fetus with the CV copper value of 1·9 ng/mg showed normal results. The CV copper value of 6·3 ng/mg was considered pathognomonic for Menkes disease. The pregnancy was terminated, and the diagnosis was confirmed on fetal fibroblasts. Maternal deciduum prepared from the placentae showed in one of the cases with an affected fetus copper values ranging from 1·5 to 5·7 ng/mg. In six additional diagnostic cases, the copper content was determined in both CV samples and maternal deciduum. In three of these cases with normal CV sample copper, maternal decidua values of 4·85–7·8 ng/mg copper were observed. These results show that maternal deciduum contamination of a CV sample could cause a false-positive diagnosis.     

The significance of prenatal diagnosis of choroid plexus cysts

A case is described of the prenatal diagnosis of choroid plexus cysts at 17 weeks' gestation which persisted beyond 36 weeks but could not be detected after delivery. At birth the child was found to have trisomy 18.     

Prenatal screening and diagnosis of neural tube defects in England and Wales in 1985

A survey was carried out to determine the effect of prenatal screening and therapeutic abortion on births in 1985 with anencephaly and spina bifida in England and Wales. Maternal serum alpha-fetoprotein tests were done on 399 288 women (60 per cent of pregnant women): 4 per cent were reported as being screen-positive and 1 per cent had an amniocentesis. An estimated 534 pregnancies associated with anencephaly were terminated and an estimated 445 pregnancies associated with spina bifida (but without anencephaly) were terminated. Most (63 per cent) of the anencephalic pregnancies were first suspected from an ultrasound examination; 57 per cent of the spina bifida pregnancies were first suspected from a positive maternal serum alpha-fetoprotein test, 35 per cent by ultrasound, and the remaining 8 per cent by other means. The birth prevalence of anencephaly declined by 94 per cent between 1964–1972 and 1985, but when the terminations of pregnancy on account of having a fetus with anencephaly are added to the births the decline in prevalence was only 50 per cent. The birth prevalence of spina bifida declined by 68 per cent over the same period but when the terminations were added to the births the decline in prevalence was only 32 per cent. Among births with anencephaly 66 per cent had had no screening or diagnostic tests in early pregnancy, but in those that did nearly all were positive–usually in twin pregnancies where one fetus was affected but not the other. Among births with spina bifida, 48 per cent had no tests and in those that did the results were mainly negative. We conclude that in order to monitor adequately the national screening programme for anencephaly and spina bifida a special neural tube defects register should be formed.     

Experimental investigation of open core downdraft biomass gasifier for food processing industry

This paper deals with field related experience of a low temperature industrial heat application through biomass gasification. The gasification system is essentially consists of an open top down draft reactor lined with ceramic. The experiment reveals that 6.5 kg of liquefy petroleum gas (LPG) is fully replaced by 38 kg of sized wood on hourly basis. The maximum temperature attained was 367°C in 130 min at 100.7 Nm³ h⁻¹ gas flow rate. This system has resulted a saving of about 19.5 tons of LPG over 3,000 h of operation, implying a saving of about 33 tons of CO₂ emission, thus a promising candidate for clean development mechanism. Fuel economic analysis of gasifier system showed that the saving was about 13,850 US$ for 3,000 h of baking operation.     

European scale application of atmospheric reactive nitrogen measurements in a low-cost approach to infer dry deposition fluxes

A European scale network was established in 2006 as part of the NitroEurope Integrated Project to infer reactive nitrogen (Nr) dry deposition fluxes, based on low-cost sampling of gaseous and aerosol species and inferential modelling. The network provides monthly measurements of NH₃, NH₄⁺, HNO₃ and NO₃⁻, as well as SO₂, SO₄²⁻, HCl, Cl⁻ and base cations at 58 sites. Measurements are made with an established low-cost denuder methodology (DELTA) as a basis to: (1) examine temporal trends and spatial patterns across Europe, (2) improve and calibrate inferential modelling techniques to estimate exchange of Nr species, (3) provide best estimates of atmospheric dry N deposition, and (4) permit an analysis of net GHG exchange in relation to atmospheric and agricultural N inputs at the European scale. Responsibility for measurements is shared among seven European laboratories. An inter-comparison of the DELTA implementation by 6 laboratories at 4 test sites (Montelibretti, Italy; Braunschweig, Germany; Paterna, Spain and Auchencorth, UK) from July to October 2006 provided training for the laboratories and showed that good agreement was achieved in different climatic conditions (87% of laboratory site-means within 20% of the inter-laboratory median). Results obtained from the first year of measurements show substantial spatial variability in atmospheric Nr concentrations, illustrating the major local (NH₃) and regional (HNO₃, NO₃⁻, and NH₄⁺) differences in Nr concentrations. These results provide the basis to develop future estimates of site-based Nr dry deposition fluxes across Europe, and highlight the role of NH₃, largely of agricultural origin, which was the largest single constituent and will dominate dry Nr fluxes at most sites.     

不同来源腐殖酸的光解及过氧化氢对其影响

为探讨腐殖酸在环境中的行为及光解除去腐殖酸的可能性，利用大于２９０ｎｍ的模拟日光辐照，探讨了大骨节病病区、非病区腐殖酸和泥炭腐殖酸的光解过程和光解机理及过氧化氢对其光解的影响，发现随着光照时间的延长，腐殖酸水体系的总有机碳（ＴＯＣ）含量降低，ｐＨ值下降，过氧化氢可以促进腐殖酸的光解，其光解过程遵循一级动力学规律。计算了不同来源腐殖酸光解的速率及光解半衰期，发现土壤和泥炭腐殖酸比大骨节病病区饮水中腐     

Characteristics of urban ozone level in Hong Kong

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A lake classification concept for a more accurate global estimate of the dissolved inorganic carbon export from terrestrial ecosystems to inland waters

The magnitude of lateral dissolved inorganic carbon (DIC) export from terrestrial ecosystems to inland waters strongly influences the estimate of the global terrestrial carbon dioxide (CO₂) sink. At present, no reliable number of this export is available, and the few studies estimating the lateral DIC export assume that all lakes on Earth function similarly. However, lakes can function along a continuum from passive carbon transporters (passive open channels) to highly active carbon transformers with efficient in-lake CO₂ production and loss. We developed and applied a conceptual model to demonstrate how the assumed function of lakes in carbon cycling can affect calculations of the global lateral DIC export from terrestrial ecosystems to inland waters. Using global data on in-lake CO₂ production by mineralization as well as CO₂ loss by emission, primary production, and carbonate precipitation in lakes, we estimated that the global lateral DIC export can lie within the range of \( {0.70}_{-0.31}^{+0.27} \) to \( {1.52}_{-0.90}^{+1.09} \) Pg C yr^?1 depending on the assumed function of lakes. Thus, the considered lake function has a large effect on the calculated lateral DIC export from terrestrial ecosystems to inland waters. We conclude that more robust estimates of CO₂ sinks and sources will require the classification of lakes into their predominant function. This functional lake classification concept becomes particularly important for the estimation of future CO₂ sinks and sources, since in-lake carbon transformation is predicted to be altered with climate change.