Prenatal diagnosis of Apert syndrome: report of two cases

Two de novo cases with Apert Syndrome detected prenatally are presented herein. In the first, fetal ultrasound findings of syndactyly of the hands, craniosynostosis and proptosis resulted in a prenatal diagnosis in the nineteenth week of gestation. This is the earliest prenatal diagnosis of this syndrome in a not-at-risk case. Following counseling, this pregnancy was terminated and subsequent pathological examination and DNA analysis confirmed the diagnosis of Apert Syndrome and coarctation of the aorta. In the second case, fetal ultrasound at 21 weeks' gestation revealed a hypoplastic left heart and clover-leaf skull. Following counseling, this pregnancy was also terminated. Further examination of the fetus and DNA analysis led to a diagnosis of Apert Syndrome. These cases emphasize the need to complete a thorough fetal ultrasound in cases with potentially lethal cardiac abnormality and the importance of incorporating a fetal pathologist, as well as a medical geneticist, in the investigations performed after delivery or pregnancy termination when a fetal abnormality is detected on ultrasound. Copyright © 2003 John Wiley & Sons, Ltd.     

基于绝对主成分-多元线性回归的滇池污染源解析

定量解析污染源是湖泊流域水环境管理的重要基础.基于滇池草海和外海多年水质监测数据,采用主成分分析（PCA）方法识别了主要水质指标的污染源类型,利用绝对主成分-多元线性回归模型（APCS-MLR）得到不同污染源对水质的贡献程度.结果表明,草海主要的污染源有农业面源、城市面源和内源3类,外海的主要污染源是农业面源、城镇生活污染源、城市面源和内源4类.与河流水污染源解析结果不同,底泥内源与气象因子对滇池主要水质指标的影响较大.     

土壤胡敏素对铜离子的吸附作用及其机理研究

以暗棕壤为供试土壤,研究了不同溶液pH值、离子强度、接触时间、反应温度和初始铜离子(Cu~(2+))浓度条件下,胡敏素对Cu~(2+)的吸附作用;利用扫描电子显微镜(SEM)、X-射线能量色散谱(EDS)、傅立叶变换红外光谱(FTIR)和X-射线光电子能谱(XPS),对胡敏素/胡敏素-Cu~(2+)复合物的表面形貌、元素分布和官能团组成进行了分析;应用延展X-射线吸收精细结构谱(EXAFS),对吸附态Cu~(2+)的局域配位结构进行了表征.结果表明:胡敏素对Cu~(2+)的吸附量随pH值、接触时间、反应温度和Cu~(2+)浓度的增加而增加,但随离子强度的增加而下降;吸附动力学符合准二级动力学方程,而吸附等温线用Langmuir方程的拟合效果较好;吸附过程需要能量,是自发、吸热和自由度增加的缔合反应;吸附Cu~(2+)之后,胡敏素表面产生了团聚现象,表面羧基、羟基、吡啶氮和N—O基团参与了Cu~(2+)的吸附作用,同时吸附态Cu~(2+)是以内层配位形式与胡敏素表面的O/N和C原子结合.     

Nanoencapsulation of hexavalent chromium with nanoscale zero-valent iron: High resolution chemical mapping of the passivation layer

Solid phase reactions of Cr(Ⅵ) with Fe(0) were investigated with spherical-aberration-corrected scanning transmission electron microscopy(Cs-STEM) integrated with X-ray energy-dispersive spectroscopy(XEDS). Near-atomic resolution elemental mappings of Cr(Ⅵ)–Fe(0) reactions were acquired. Experimental results show that rate and extent of Cr(Ⅵ) encapsulation are strongly dependent on the initial concentration of Cr(Ⅵ) in solution. Low Cr loading in nZⅥ(1.0 wt%) promotes the electrochemical oxidation and continuous corrosion of n ZⅥ while high Cr loading(1.0 wt%) can quickly shut down the Cr uptake. With the progress of iron oxidation and dissolution, elements of Cr and O counter-diffuse into the nanoparticles and accumulate in the core region at low levels of Cr(Ⅵ)(e.g., 10 mg/L). Whereas the reacted n ZⅥ is quickly coated with a newly-formed layer of 2–4 nm in the presence of concentrated Cr(Ⅵ)(e.g., 100 mg/L). The passivation structure is stable over a wide range of pH unless pH is low enough to dissolve the passivation layer. X-ray photoelectron spectroscopy(XPS) depth profiling reconfirms that the composition of the newly-formed surface layer consists of Fe(Ⅲ)–Cr(Ⅲ)(oxy)hydroxides with Cr(Ⅵ) adsorbed on the outside surface. The insoluble and insulating Fe(Ⅲ)–Cr(Ⅲ)(oxy)hydroxide layer can completely cover the n ZⅥ surface above the critical Cr loading and shield the electron transfer. Thus, the fast passivation of nZⅥ in high Cr(Ⅵ) solution is detrimental to the performance of nZⅥ for Cr(Ⅵ) treatment and remediation.     

Morphology and electrical conductivity of PACS

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不同生长期的Pseudomonas putida 5-x细胞对工业废水中Cu~(2+)的吸附

研究了不同生长阶段的Cu2 + 吸附细菌Pseudomonasputida 5 x对Cu2 + 的吸附容量 .结果表明在低硫培养基中 ,当P putida 5 x细胞生长刚进入对数生长期时 ,单位细胞对Cu2 + 的吸附溶量最低 .而当生长进入稳定生长期的后期或死亡期的早期时 ,单位细胞对Cu2 + 的吸附量最大 .实验结果还表明 ,高浓度的Cu2 + 对对数期细胞的吸附能力有一定的抑制 ,而对死亡期的细胞影响较小 .早期研究已证明细胞对重金属离子的吸附和细胞表面某些对重金属离子具有亲和性的功能基团 (如某些膜蛋白及羰基化合物 )有关 .利用透视电子显微镜观察了不同生长阶段的细胞表面结构及对铜离子的吸附效果 ,发现生长后期细胞表面吸附有较多的Cu2 + ,这表明生长后期的细胞表面可能含有较多的这类功能基团     

Erythroid-specific antibodies enhance detection of fetal nucleated erythrocytes in maternal blood

Fetal nucleated erythrocytes (NRBC) in maternal blood are a non-invasive source of fetal DNA for prenatal genetic screening. We compared the effectiveness of three monoclonal antibodies for the separation of fetal cells from maternal blood by flow sorting. Mononuclear blood cells from 49 healthy pregnant women were incubated with antibody to CD 71, CD 36, and/or glycophorin A (GPA), employed singly or in combination with each other. These monoclonal antibodies recognize surface antigens on haematopoietic precursor cells. Successful isolation of fetal cells was defined as detection of Y chromosomal sequences in maternal blood from women carrying male fetuses, with absence of Y sequences when female fetuses were carried. Thus, gender prediction accuracy was used as a measure of fetal cell separation. Using anti-CD 71 to isolate fetal cells, gender prediction was 57 per cent correct; with anti-CD 36, it was 88 per cent correct. Anti-GPA, an erythrocyte-specific antigen, used alone or in combination with anti-CD 71 or 36, improved gender prediction to 100 per cent. We conclude that antibody to GPA improves the retrieval of fetal NRBC from maternal blood, permitting genetic analysis by the polymerase chain reaction.     

耐镉菌株的分离及其对Cd2+的吸附富集

采用梯度浓度驯化的方法,筛选分离出一株能高度耐镉和富集镉的菌株,初步鉴定为假单胞菌属(Pseudomonas sp.).该菌株在含Cd2+浓度4500mg/L的液体细菌培养基中能够生存,当Cd2+浓度为100mg/L时,pH值为6～8有利于提高菌株耐镉能力.Cd2+为低浓度时菌株积累Cd2+,菌体对Cd2+浓度为100mg/L的积累率达99.1%,冻干菌体对Cd2+的吸附量为8.786mg/g干菌体;当Cd2+浓度大于909mg/L时,菌体表现出外排Cd2+现象.红外分析和电镜观察表明,菌株细胞壁在吸附Cd2+中起重要作用,67.4%的Cd2+吸附在细胞壁上.     

Impact of triazophos insecticide on paddy soil environment

ＩｎｔｒｏｄｕｃｔｉｏｎＲｉｃｅｉｓｔｈｅｓｔａｐｌｅｄｉｅｔａｒｏｕｎｄ 3 0 %ｏｆｔｈｅｗｏｒｌｄｐｏｐｕｌａｔｉｏｎａｎｄａｒｏｕｎｄ 60 %ｏｆｔｈｅＡｓｉａｎｐｏｐｕｌａｔｉｏｎ .Ｔｈｉｓｃｒｏｐｉｓｐｒｅｆｅｒｅｎｔｉａｌｌｙｏｒｇｅｎｅｒａｌｌｙｃｕｌｔｉｖａｔｅｄｕｎｄｅｒｓｕｂｍｅｒｇｅｄｓｏｉｌｃｏｎｄｉｔｉｏｎｓｆｏｒｒｅａｓｏｎｓｏｆｂｅｔｔｅｒｙｉｅｌｄｓａｎｄｔｏｐｏｇｒａｐｈｉｃａｌｓｉｔｕａｔｉｏｎｓ(Ｒｅｉｃｈａｒｄｔ,1 997) .Ｔｈｅｉｍｐｏｒｔａｎｃｅｏｆｓｏｉｌｍ…