Prenatal exclusion of stickler syndrome

Stickler syndrome is an autosomal dominant disorder of the connective tissue which includes ocular and systemic manifestations. We report on a large kindred in which we were able to demonstrate very tight linkage between the disease and the type II collagen gene (COL2A1) (LOD score 3·91 at θ=0). In a family in which the father and one of his daughters were severely affected, DNA analysis from a chorionic villus sample demonstrated that the fetus possessed the normal allele of COL2A1. Thereafter a normal child was born.     

Incremental cost-effectiveness of incorporating oestriol evaluation in down syndrome screening programmes

As screening for Down syndrome becomes increasingly sophisticated, it is important to evaluate the newer technologies in terms of their cost-effectiveness. One recent addition to Down syndrome screening programmes is maternal serum unconjugated oestriol (uE₃), especially when used in conjunction with maternal serum α-fetoprotein and human chorionic gonadotropin. Using assumptions used in a California proposal to justify an expanded screening programme for Down syndrome, we calculated both the average and the incremental cost-effectiveness of adding uE₃. Using the base case assumptions, including an $8 fee for the uE₃, the incremental cost-effectiveness of adding uE₃ to the proposed California programme is $119 100 per case detected, a value that compares favourably with other Down syndrome screening programmes. The sensitivity analysis supports this conclusion over a wide range of assumptions. However, because of the uncertainty with some key data, it is still too early to fully support the inclusion of uE₃ in Down syndrome screening programmes.     

Transvaginal chorionic villus sampling

Chorionic villus sampling (CVS) with either transcervical catheters or transabdominal needles is a widely-accepted method for prenatal diagnosis. However, there exists a small subset of patients in whom sampling is difficult or impossible with either route because of individual anatomic variations. A new method of chorionic villus biopsy has been developed to circumvent these problems, utilizing transvaginal chorionic needle aspiration guided by an intravaginal ultrasound probe. This technique was performed successfully in 15 patients in whom villi could not be obtained by either of the conventional methods. This method now makes CVS possible in essentially all women regardless of their uterine anatomy or placental placement; it may also prove useful for very early chorionic sampling.     

Evidence of a second gamete fusion after the first cleavage of the zygote in a 47,XX, + 18/70,XXX, + 18 mosaic. A remarkable diploid-triploid discrepancy after CVS

A 70,XXX, +18 karyotype was found by chorionic villus sampling, while the fetal fibroblast culture of the affected fetus revealed a 47,XX,+ 18 karyotype. From several possible mechanisms, we assume that a second gamete fusion occurred after the first cell division of the zygote. According to this interpretation, the mosaicism arose in very early pregnancy (at the two-cell stage). This discrepancy can therefore be explained by selection pressure, due to the differentiation processes in the embryonic tissues.     

Quantification of human amniotic fluid constituents by high resolution proton nuclear magnetic resonance (NMR) spectroscopy

We have investigated the ability of high-resolution proton NMR spectroscopy to provide a biochemical constituent screening of human amniotic fluid (AF). Proton NMR spectra were obtained at 300 MHz on AF from patients undergoing amniocentesis in the mid-trimester. Only AF from normal pregnancies (normal fetal karyotype, normal a-fetoprotein levels, normal birth outcome) was used in this study. The AF supernatant was lyophilized and resuspended in deuterated water containing 0.1 mm phosphate buffer and 6.02 mm disodium maleate. Identification of low molecular weight compounds was confirmed by two-dimensional NMR spectra (primarily correlated spectroscopy, or COSY) and standard addition techniques. A broad profile of compounds were ‘NMR visible’ in a single proton spectrum, including creatinine, glucose, organic acids (acetate, citrate, and lactate) and several amino acids (alanine, histidine, leucine, phenylalanine, tyrosine and valine). The proton spectrum was unaffected by prior freezing/thawing of AF samples. We were able to quantify compounds by comparison with an added concentration standard (maleate) at concentrations as low as 30 μm. Good agreement with literature values based on other analytical techniques was obtained.     

应用GEM法对硫酸工业中重金属污染的研究

为查明硫酸工业中主要重金属的危害以及不同制酸工艺产生的危害差异，对辽宁省主要生产硫酸企业进行了调研，并应用ＭＥＧ法，对矿石原料中重金属的含量进行了数学模型分析．     

试剂管法快速测定环境水质中的洗涤剂

本文采用维多利亚蓝简易试剂管法，直接在水相中显色快速测定环境水质中的洗涤剂．此法操作简便、结果准确可靠．ｔ检验结果，Ｐ＞０．０５，简易法与标准方法之间无显著性差异，适合于现场及野外条件下使用．     

方轧件在椭圆孔型中轧制温度场的三维有限元分析

应用MARC/autoforge有限元软件对方轧件在椭圆孔型中的轧制温度场进行了热力耦合模拟.研究了模拟过程中的传热边界条件,分析了轧制前和轧制过程中轧件中温度场的分布和变化规律.模拟计算结果和实验结果的比较说明二者基本是相符的.     

城市固体废物的焚烧实验

 稳定均匀的燃烧温度是确保减少垃圾焚烧系统大气污染物排放量的一个重要因素.采用内旋流流化床(ICFB)进行了城市生活垃圾焚烧实验,探讨了不同的布风速度、垃圾焚烧量、流化床浓相区高度和不同种类垃圾对焚烧稳定性的影响,并给出了流化床内部温度和CO、NO_X、SO₂等大气污染物的浓度变化.内旋流流化床采用非均匀布风,低速风的移动区尚未流化时,浓相区温度存在一定的不均匀性,低速风区流速超过2倍初始流化速度后,浓相区温度是均匀一致的;流化床的床料具有较好的蓄热能力,较厚的床层有利于提高燃烧的稳定性,可减少垃圾给料和垃圾热值的波动对燃烧温度造成的不利影响;垃圾的焚烧效果与垃圾的热值有直接关系,焚烧低热值垃圾时,为了提高焚烧温度并达到较好的排放指标,需要增加一定量辅助燃料进行助燃;内旋流流化床在燃烧稳定性以及燃烧温度控制上具有一定优势.     

水稻烤田期间N2O排放及其影响因素

水稻田间实验研究了烤田期间的土壤温度、Eh、含水量和裂缝基本性质,矿质态氮以及与氮有关的酶活性的演变规律,及其对N2O排放的影响.试验表明,在水稻分蘖期间烤田,N2O有一个排放高峰,其最高值可达75.6μg·m-2·h-1.在排放高峰后,即使继续烤田,N2O的排放值也将降低.N2O排放与尿素氮肥的施用量没有明显关系.裂缝的生成,改变了N2O的日排放规律.随着烤田时间的延长,脲酶和羟胺还原酶活性呈波动变化,硝酸还原酶活性递减,亚硝酸还原酶活性极低.硝酸还原酶活性与N2O排放之间没有显著相关性.土壤中的脲酶活性与N2O日排放通量呈显著的线性正相关.在烤田期间,NO-3含量呈增加趋势.土壤中的硝态氮含量与N2O排放通量之间呈显著正线性关系.土壤中的铵态氮含量与N2O排放通量之间呈显著负线性相关.