Unusual prenatal presentation of Beckwith–Wiedemann syndrome

When Beckwith–Wiedemann syndrome (BWS) is detected prenatally, it is usually on the basis of macroglossia, exomphalos or enlarged kidneys. We describe a case that presented as gross hepatomegaly and a suspected enlarged pancreas at 20 weeks' gestation, with none of the usual features. Copyright © 2004 John Wiley & Sons, Ltd.     

New technique using galactose-specific lectin for isolation of fetal cells from maternal blood

To isolate fetal cells from maternal blood, we developed a new method based on galactose-bearing conjugation. Nucleated red blood cells (NRBCs), which highly express galactose on their surface, were selectively attached to a substrate coated with a galactose-containing polymer via soybean agglutinin (SBA), a galactose-specific lectin. Cord blood samples were used to evaluate enrichment efficacy of NRBCs by this method. Blood samples were obtained from 131 pregnant women between 6 and 27 gestational weeks. After preliminary condensation of fetal cells by Ficoll gradient centrifugation, NRBCs were enriched using galactose-positive selection by adjusting SBA concentration. We isolated one to severalhundred NRBCs (mean±SD, 7.8±8.5) in 2.3 ml of peripheral blood samples from 96% of pregnantwomen. The isolated NRBCs were analyzed by a Y-chromosome FISH probe in eight cases carrying male fetuses. Y-signals were detected in all eight cases and more than half of the NRBCs wereoffetal origin. The study demonstrates that our new method using galactose-specific lectin provides effective enrichment of fetal NRBCs allowing non-invasive prenatal diagnosis. Copyright © 2002 John Wiley & Sons, Ltd.     

Development of non-invasive fetal DNA diagnosis from maternal blood

Several attempts have been made to detect and retrieve fetal nucleated cells including nucleated erythrocytes (NRBCs), leukocytes, and trophoblasts in maternal blood. We have recently developed a new method for non-invasive fetal DNA diagnosis from maternal blood. Peripheral blood granulocytes including NRBCs were isolated by a discontinuous density gradient method using Percoll (Pharmasia). NRBCs were found and retrieved at a single cell level using a micromanipulator under a microscope. To determine whether the origin of the NRBCs was maternal or fetal, the NRBCs were analysed by polymerase chain reaction (PCR) amplification to determine the presence of a Y-chromosome-specific repeat sequence in mothers carrying male fetuses. We were successful in predicting fetal sex accurately in 10 out of 11 samples taken from maternal blood. This new technique opens up fetal DNA diagnosis from maternal blood during the first trimester of pregnancy to the whole population because there is no risk to the fetus or the mother.     

上海城区硝基芳香族化合物的化学组成及特征分析

为研究硝基芳香族化合物(NACs)在上海城区大气中的浓度水平、组成特征以及与气态前体物关系,采用大流量采样器采集了2020～2021年上海城区大气细颗粒物PM_2.5冬季39个和夏季46个样品,利用超高效液相色谱-静电场轨道阱高分辨质谱,对其中12个NACs物质进行了定量分析,结合后向轨迹、前体物及气象要素等相关性分析,并对其中含CHON类物质进行分子组成和分类分析.结果表明,冬季ρ(NACs)平均值(17.1 ng·m^-3)是夏季(5.7 ng·m^-3)的3倍,冬季气团主要来自于北方,夏季气团则主要来自于较清洁的东南部海洋.冬季NACs组成中含量最丰富的物种为4-硝基苯酚,夏季则为4-硝基苯酚(清洁天)和4-羟基-3-硝基苯甲酸(污染天),冬、夏两季均表现出昼高夜低的特点.单环和多环芳烃化合物识别和表征的芳环等值数(Xc)以及O/C和H/C值等特征的定性分析结果表明,上海城区冬、夏两季PM_2.5中CHON类化合物主要是芳香族化合物,且在PM_2.5污染天检测到的CHON类化合物的...     

上海大气PM2.5来源解析对比:基于在线数据运用3种受体模型

于2014年12月2～24日在上海市城区对大气中细粒子及其化学组分进行了在线连续观测,基于在线数据运用正定矩阵因子分析法(PMF)、化学质量平衡法(CMB)和多元线性模型(ME2)这3种受体模型开展颗粒物源解析并进行相互验证.结果显示,基于在线数据共获得了8类污染源,包括二次硝酸盐、二次硫酸盐、二次有机碳、重油燃烧源、工业源、移动源、扬尘源和燃煤源.其中二次硝酸盐、二次硫酸盐、二次有机碳等二次污染源(44.9%～64.8%)对PM_(2.5)的贡献最大,移动源(16.8%～24.8%)和燃煤源(5.6%～14.9%)的贡献次之,其他源类的贡献相对较小. 3种模型获得的污染源特征组分和来源结果对比表明, 3种模型获得的二次硫酸盐、二次硝酸盐、二次有机碳、移动源的源解析结果较接近,说明模型对这4类源的模拟较好.ME2和PMF模型对燃煤源、扬尘源的拟合结果要好于CMB;工业源则是CMB的结果更好.     

太湖草、藻湖区沉积物WSOM组成和分子结构分析

草型湖泊（区）和藻型湖泊（区）是浅水湖泊的两种典型状态,两种湖泊中有机质（OM）的来源和转化存在明显差异.有机质在沉积物上的埋藏是湖泊碳汇功能的重要体现.沉积物中的有机质可能发生后续的转化,影响湖泊碳汇功能;其转化过程与其固有的性质密切相关.目前为止,有关草型和藻型湖泊沉积物中有机质的组成,特别是分子结构差异的信息较少.为此,采集太湖草型湖区（东太湖）和藻型湖区（梅梁湾）沉积物,提取和纯化沉积物中的水溶性有机质（分别记为M-WSOM和A-WSOM）,并采用紫外-可见吸收光谱、三维荧光光谱、傅立叶红外光谱和傅里叶变换-离子回旋共振-质谱（FT-ICR MS）对WSOM性质组成和分子结构进行详尽的表征与分析.结果表明：①M-WSOM的相对分子质量比A-WSOM的（E₂ ：E₃指标）稍大;FT-ICR MS的数据显示,M-WSOM和A-WSOM的相对分子质量分别为388.9和379.9.②M-WSOM的芳香性略高于A-WSOM的（SUVA₂₅₄和HIX指标）;同样地,FT-ICR MS的结果显示,M-WSOM中稠环芳烃（6.3%,强度加权平均占比,下同）、芳香类物质（7.7%）的含量高于A-WSOM （分别为1.1%和4.4%）;③荧光组分结果表明A-WSOM中类蛋白质组分的含量大于M-WSOM;FT-ICR MS的结果与之对应,A-WSOM的多肽含量（35.5%）高于M-WSOM的（15.6%）;④质谱数据显示了高分辨的分子信息：M-WSOM和A-WSOM中,沉积物中含杂原子的分子分别占82.9%和91.7%;其中含氮元素的分子占比高达53.5%和78.5%;含磷元素分子占30.4%和41.4%,M-WSOM磷元素主要分布在脂肪烃和高度不饱和低氧物质中,而A-WSOM则主要分布在多肽中.揭示了浅水湖泊两种典型状态沉积物OM的组成和分子结构;有助于研究湖泊沉积物的温室气体排放,及碳、氮、磷元素的生物地球化学过程.     

廊坊市秋冬季大气细颗粒物污染特征及来源解析

分析了2019～2020年秋冬季廊坊市北部、市区和南部这3个站点的大气细颗粒物及其化学组成.空间分布上,PM_2.5浓度整体为：南部>市区>北部.PM_2.5主要成分为有机物、硝酸盐、硫酸盐、铵盐、矿物组分、氯离子和元素碳,分别占PM_2.5的质量分数为25.4%、21.5%、11.0%、11.5%、13.7%、3.5%和5.8%,金属元素及其他物质的质量分数分别为0.3%和7.2%;二次无机盐浓度呈现市区(28.7μg·m^-3)高于北部(28.0μg·m^-3)和南部(26.8μg·m^-3)郊区的变化特征,而有机物(其浓度分别为16.6、13.0和18.5μg·m^-3,由北向南,下同)、矿物组分(9.6、6.7和9.7μg·m^-3)、氯盐(2.0、2.0和2.8μg·m^-3)和元素碳(3.6、3.2和4.3μg·m^-3)浓度呈现南部和北部郊区高于市区的变化特征.随...