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.     

False-negative amniotic fluid acetylcholinesterase in a case of meningo-encephalocele

We describe a patient with a significantly elevated serum alphafetoprotein (AFP) concentration at 17 weeks of gestation, who showed only a marginally increased amniotic fluid AFP and lacked the second rapidly migrating band of acetylcholinesterase electrophoresis. Ultrasound examination revealed an encephalocele and ventriculomegaly. Autopsy showed that the encephalocele was not covered by skin.     

In vitro characteristics of human fetal cells obtained from chorionic villus sampling and amniocentesis

In vitro characteristics of human fetal cells have been investigated after chorionic villus sampling at the first trimester and amniocentesis at the second trimester of pregnancy. Light microscopy revealed heterogeneous morphology of cell types in both the chorionic villus culture and the amniotic fluid cultures. Based on the experiments performed, chorionic villus cells are more sensitive to pronase, trypsin, and versene during subculture and have a higher DNA content per single cell and release more [¹²⁵I]-Beta-human chorionic gonadotropin into culture medium than those found in amniotic fluid cells. The practical applications of this study are discussed.     

Mn-Cu-O负载型催化剂上CO氧化性能的研究

研究了ＺｒＯ２或Ａｌ２Ｏ３负载Ｍｎ－Ｃｕ－Ｏ体系催化剂ＣＯ催化氧化活性，以及物相结构，表面氧性能与活性的关系。结果表明，锆基催化剂的氧化活性明显优于铝基催化剂，起燃温度Ｔ５０低达５０℃，ＺｒＯ２载 利于活性组份形成高活性物相，并促进表面吸附氧的脱附，表现出催化剂表面吸附氧的脱附温度高低次序与其氧化活性有一致的对应关系。     

Spatial variations in daily average CO2 concentrations above wetland surface of Xianghai National Nature Reserve, China

Horizontal and vertical variations of daily average CO2 concentration above the wetland surface were studied in Xianghai National Nature Reserve of China in August, 2000. The primary purpose was to study spatial distribution characteristics of CO2 concentration on the four levels of height(0.1 m, 0.6 m, 1.2 m and 2 m) and compare the differences of CO2 concentration under different land covers. Results showed that daily average CO2 concentration above wetland surface in Xianghai National Natural Reserve was lower than that above other wetlands in northeast China as well as the worldwide average, suggesting that Xianghai wetland absorbed CO2 in August and acted as“sink” of CO2. The horizontal variations on the four levels of height along the latitude were distinct, and had the changing tendency of“decreasing after increasing” with the increase of height. The areas with obvious variations were consistent on different levels of height,and those with the highest variations appeared above surface of shore, sloping field, Typha wetland and Phragmites wetland; the vertical variations were greatly different, with the higher variations in Phragmites wetland and Typha wetland, and the lands near the shore and the sloping field with the lower variations. Spatial variations of daily average CO2 concentrations above wet!and surface were affected by surface qualities and land covers.     

SiO_2-TiO_2纳米管的制备及其光催化性能的研究

文章采用水热法制备SiO2-TiO2纳米管,通过扫描电镜(SEM)和透射电镜(TEM)考察了该纳米管的结构形态,并用X-射线衍射考察其晶体结构。实验结果表明所制得的纳米管是锐钛晶型,其两端开口,具有多层管壁;管径为8nm左右,管壁厚1～2nm。光催化降解酸性橙Ⅱ实验表明:SiO2-TiO2纳米管光催化速率比TiO2纳米管高出10%。这可能是因为Si元素的存在增大了钛纳米管的比表面积,同时SiO2的存在能降低光生电子和空穴的复合率。     

新型负载型纳米TiO_2光催化降解苯酚的试验研究

以岩棉为载体制备一种新型负载型纳米TiO2,对有机污染物苯酚的降解效果较好。岩棉对苯酚有一定的吸附作用。经过120min的处理,苯酚基本上被完全降解。流速对降解率的影响较大,本试验选择流速为5mL/min。初始浓度越小,苯酚的降解效果越好。通入O2和加入适量H2O2均有利于苯酚的降解,且少量的H2O2可使苯酚的降解率大大提高。苯酚在pH=4.5时降解效果最好。     

Second-trimester cancer antigen 125 and Down's syndrome

This study explores if assay of cancer antigen 125 (CA 125) in maternal serum might aid the detection of Down's syndrome in the second trimester of pregnancy. CA 125 levels were determined retrospectively in stored maternal serum samples from ten Down's syndrome pregnancies and 78 controls matched for gestational and maternal age. In addition, second-trimester amniotic fluid samples from nine Down's syndrome and 109 unaffected pregnancies were analysed for CA 125. Maternal serum CA 125 values for Down's syndrome pregnancies were lower, with the median being 0.72 multiples of the unaffected population median. The medians for affected and unaffected pregnancies did not differ significantly and there was a considerable overlap in the range of values of cases and controls. The distribution of amniotic fluid CA 125 levels for Down's syndrome pregnancies resembled that for controls. From our present results, we could not find an association between Down's syndrome and second-trimester maternal serum or amniotic fluid CA 125 levels.     

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.     

Evaluation of inorganic pyrophosphate in amniotic fluid as a mode of prenatal diagnosis of osteogenesis imperfecta

Using a modified procedure by Solomons and Styner (1969), an evaluation of inorganic pyrophosphate (PPi) was performed on the amniotic fluid of two fetuses at risk for osteogenesis imperfecta (OI) at 14½ weeks gestation. The parents of both cases had a previous child with OI, Type II. The normal control group at 14–16 weeks gestation had PPi values ranging from 22.0–59.2 ug/100 ml, with a mean of 38.6±9.51 ug/100 ml. In each at-risk fetus, the amniotic fluid PPi value was within normal range. The first baby was born phenotypically normal at term. Intrauterine radiographic and fetal sonograms were done on the second fetus at approximately 19 weeks gestation. Both showed evidence of OI, Type II. The pregnancy was terminated at 21 weeks. Radiologic studies of the aborted fetus were consistent with OI, Type II. Our results indicate that the evaluation of PPi levels in amniotic fluid is not the method of choice for prenatal diagnosis of IO.