Prenatal diagnosis of β thalassaemia by reverse phase HPLC

Reverse phase HPLC of radioactive globin chains has been compared to classical carboxy methyl cellulose chromatography for the prenatal diagnosis of β thalassaemia. The two methods correlated highly (r = 0.97 p < 0.0005) and provided an identical diagnosis for 40 fetal blood samples of fetuses homozygous or heterozygous for β thalassaemia. The HPLC procedure was much faster and required fewer biochemical steps (no globin preparation). It was at least as accurate and more sensitive than the classical chromatography. A single column can be used for 150 analyses and is always ready to be used. Last but not least it is much less expensive than CMC chromatography.     

Opportunities and constraints for Product-oriented Environmental Management Systems (P-EMS)

Product-oriented Environmental Management Systems (P-EMS) are a logical extension of current, often primarily process- of facility-oriented Environmental Management Systems. The Dutch government promotes P-EMS as part of its product-oriented environmental policies. The idea of P-EMS is to enable producers to make environmentally responsible decisions on product development and product strategies, in collaboration with suppliers and customers. This paper summarises example P-EMS projects in The Netherlands for two segments of industry, namely retail and manufacturing industry. Moreover two other initiatives will be covered that deal with the development of tools to facilitate P-EMS in two other industry sectors (food processing and building). Success factors that emerge from these initial experiences are: focus on partners that have a strong incentive to act, application of screening Life Cycle Assessments (LCA) or user-shells for LCA, and focus on improvements that can be implemented on the short term.     

Effect of long-term fertilization on soil nitrate distribution

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Prenatal diagnosis of Freeman–Sheldon syndrome (whistling face)

The diagnosis of Freeman–Sheldon syndrome was made by ultrasonographic evaluation of a 20-week fetus with a positive family history. The ultrasonographic features were abnormalities of the extremities and mouth.     

Pitfalls in the prenatal diagnosis of peroxisomal β-oxidation defects by chorionic villus sampling

Variability in the level of expression of very long chain fatty acids (VLCFAs) is documented in cultured chorionic villus (CV) cells derived from two fetuses, one at risk for an unusual peroxisomal fatty acid β-oxidation defect, and the other at risk for the X-linked form of adrenoleucodystrophy (ALD). Cells from early subcultures of chorionic cells from both cases gave normal values for VLCFA ratios. The results for the fetus at risk for the β-oxidation defect were interpreted to indicate that the fetus was not affected; however, at birth, the infant was clinically and biochemically affected. In the case of the fetus at risk for X-linked ALD, although VLCFAs were normal in subculture 1, the levels of these fatty acids increased dramatically in subculture 3, suggesting an abnormal fetus. Termination of the pregnancy and subsequent biochemical and morphological follow-up confirmed that the fetus was indeed affected by ALD.     

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.     

S-100 protein and neuron-specific enolase in amniotic fluid as markers of abdominal wall and neural tube defects in the fetus

The aim of this study was to determine whether there is increased leakage of neuron-specific enolase (NSE) and S-100 protein into amniotic fluid in pregnancies with neural tube defects, since both these proteins are produced by neural tissue, and to compare the value of these substances for detecting such defects with that of the more conventional techniques of alpha-fetoprotein (AFP) and acetylcholinesterase (AChE) gel electrophoresis. Amniotic samples from 25 mid-pregnancies (15–17 weeks' gestation) with neural tube defects (14 with open spina bifida and 11 with anencephaly) and from seven mid-pregnancies with abdominal wall defects were compared with a control material consisting of 80 amniotic fluid samples from 80 consecutive mid-pregnancy amniocenteses, with normal karyotypes and AFP concentrations. All of the above cases of abnormalities were primarily detected through increased AFP levels in the amniotic fluid. Amniotic fluid samples from 13 pregnancies with fetuses with autosomal chromosomal abnormalities and seven amniotic fluid samples contaminated with blood were also included in the investigation. It is concluded from the results that the conventional AFP assay combined with AChE gel electrophoresis is the best method for screening amniotic fluid for neural tube defects and defects of the abdominal wall. Neither NSE nor S-100 assay alone proved to be superior for the detection of these cases in mid-trimester amniotic fluid. The S-100 assay, however, could give additional information in cases where AChE gel electrophoresis is not decisive; for example, in samples contaminated with blood.     

欧洲的氮状况

欧洲(不包括前苏联)的氮收支表明,欧洲氮循环加速的三个主要驱动力是肥料生产(14MtN/a)、矿物燃料燃烧及其它工业(3.3MtN/a)和各种产品中的氮输入(7.6MtN/a).本文估计了欧洲粮食、能源和工业产品系统中活性氮元素的各种泄漏,评估了它们对人类健康及水陆生态系统的影响.考虑到氮流转中的可能后果,未来欧洲有关封闭氮循环和减少活性氮泄漏的环境政策措施最好集中于三个主要驱动力.在确定氮排放上限和制定氯流控制的综合政策方面,如肥料使用、输入和氮水平,临界负载可能是非常有用的工具.     

含硫污水系统耐蚀材料的筛选与应用

针对西北地区一综合炼油厂含硫污水管线的严重腐蚀问题，分析了腐蚀原因，确立了材料筛选方案，通过实验室静态挂片试验绘制了重量损失率变化曲线和现场挂片等试验手段，筛选推荐出了树脂玻璃钢耐蚀材料。工业生产应用结果表明，MFE-2型树脂玻璃钢是适用于该厂含硫污水系统的耐蚀材料，为类似装置的长周期运行提供了借鉴和经验。