Prenatal diagnosis of a mosaic supernumerary marker iso (8p) (tetrasomy 8p): discordance between chorionic villi culture and amniotic fluid karyotypes

We describe the first case of mosaic supernumerary marker iso (8p) displaying a karyotype discordance between chorionic villi (CV) and amniotic fluid (AF) cultures during prenatal cytogenetic diagnosis. In the first trimester, cytogenetic analysis after chorionic villi sampling (CVS) was normal in all metaphases in the short-term cytotrophoblast cell culture, but an undefined supernumerary marker was detected in 60% of mesenchymal cells in the long-term CV culture. Informed of the mosaicism, the couple selected amniotic fluid sampling as a second-trimester confirmatory diagnostic procedure. The supernumerary marker was absent in all of the 25 available AF cells metaphases. The prospective parents received genetic counselling and were informed that the discordance could be interpreted as a placental confined mosaicism or as a true foetal mosaicism with low percentage of affected cells. The couple opted to continue the pregnancy. In the second month of life, the child had abnormal development with severe psychomotor delay and frequent episodes of epilepsy. Postnatal cytogenetic extensive re-evaluation discovered that the previously detected supernumerary marker was indeed an isochromosome (8p) rearrangement present at low frequency in 5% of the blood lymphocytes. Copyright © 2006 John Wiley & Sons, Ltd.     

Wetlands and forest with a flora and fauna of international importance in Northeastern Greece

Due to Mediterranean, continental and oceanic influences we find in Northeastern Greece an exceptionally rich flora and fauna. Distributed over a distance of only 60–70 km from sea level northward to the Rhodopi mountains (with very cold and snowy winters at a height of 1000 m to 1600 m near the Bulgarian border) emerges a complex sequence of biozones unparalleled in a comparably small area in Europe. The low population density and the poor development of industry has allowed some natural landscapes to remain relatively undisturbed. The wetlands, including lake Kerkini and lake Vistonis as well as the deltas of the rivers Nestos and Evros, are a home or hibernating place for a large avifauna that includes vanishing bird species. In the oak‐ and beech‐forests of Rhodopi mountains, unusually rich in flowers, e.g. orchids, most of the large European mammals, including bear, wolf and wild boar, as well as birds of prey still find a basis for living. Pollution and damming of waters, erosion, cutting of riparian forests and overgrazing by domesticated animals are among other serious threats to the whole area. Problems, tasks and possibilities for protecting these zones of extraordinary quality are to be discussed along with an ecodevelopment concept for the whole region.     

Genotoxic fungicide methyl thiophanate as an oxidative stressor inducing 8-oxo-7,8-dihydro-2′ -deoxyguanosine adducts in DNA and mutagenesis

Dimethyl 4,4′ -(O-phenylene)bis(3-thioallophanate), commonly known as methyl thiophanate (MT), is a systemic fungicide and suspected carcinogen to humans. In this study, the oxidative potential of this category-III acute toxicant has been ascertained based on its capacity of inducing reactive oxygen species (ROS) and promutagenic 8-oxo-7,8-dihydro-2′ -deoxyguanosine (8-oxodG) adducts in DNA. The discernible MT dose-dependent reduction in fluorescence intensity of a cationic dye rhodamine (Rh-123) in human lymphocytes and increased fluorescence intensity of 2′,7′-Dichlorodihydro fluorescein diacetate (DCFH-DA) treated cells signifies decreased mitochondrial membrane potential (Δ Ψ m) due to intracellular ROS generation. The ³²P-post-labeling assay demonstrated the MT-induced 8-oxodG adduct formation in calf thymus DNA. Thus, it is concluded that MT, as a potent oxidative stressor, produces ROS leading to mitochondrial dysfunction, oxidative DNA damage and mutagenesis.     

13C同位素稀释法测定国产多氯联苯的2,3,7,8－TCDD毒性当量

应用质量控制方法测定了２种国产商品多氯联苯中１７个，２，３，７，８位有氯取代的二ｅｙｉｎｇ同族体，获得准确的定量结果，加入＾１３Ｃ标记物的ＰＣＢｓ样品用多级酸碱硅胶柱和氧化铝柱提取分离，用毛细管色谱／高分辨质谱定量，２种样品中都含有较多的２，３，７，８－ＴＣＤＦ和２，３，７，８Ｐ５ＣＤＦ，１＾＃ＰＣＢ的２，３，７，８－ＴＣＤＤ毒性当量值为２１７ｎｇ／ｇ，２＾＃ＰＣＢ为４１７ｎｇ／ｇ，毒性主要来自Ｐ     

Trisomy 8 mosaicism in chorionic villus sampling: Case report and counselling issues

We report an unusual case involving chorionic villus sampling (CVS) and trisomy 8 mosaicism. CVS showed a normal direct preparation while the culture showed mosaicism for trisomy 8. Subsequent amniocentesis revealed only normal chromosomes. A peripheral blood culture after birth revealed low-level trisomy 8 mosaicism. The patient appeared phenotypically and developmentally normal at 30 months of age. We conclude that prenatal counselling for similar cases needs to include the rare but real possibility that chromosome mosaicism detected prenatally may be found postnatally with largely unknown consequences. Secondly, low-level chromosomal mosaicism may be more common than previously recognized. Thirdly, very low-level trisomy 8 mosaicism may be compatible with a normal phenotype but long-term follow-up is required. And lastly, the use of fetal blood sampling is questionable in these cases because the phenotype may not be accurately predicted. Further studies of such cases are needed to address these important and unanswered issues, including the potential implication of mosaicism on academic performance and cognitive functioning.     

吉林省典型湖库中无机氮含量变化规律初探

通过对吉林省典型湖库1992－1997年的连续水质水文监测，探讨了吉林省主要湖库中无机氮含量的季节变化、年际变化规律及其成因，吉林省大多数湖库中的总氮处于中等富营养化程度，城市湖库（南湖）已超过富营养水平下降，受到外源性补给、温度和湖库使用功能的影响，湖库中各类型无机氮含量季节变化不一，总氮在全年出现波状起伏变化，大多数湖库中的无机氮和总氮出现逐年增加的趋势，湖库中无机氮含量受到水体中各种水质因素的综合作用。与其它单个水质之间的关系不明显。     

~（13）C同位素稀释法测定国产多氯联苯的2，3，7，8－TCDD毒性当量

应用质量控制方法测定了２种国产商品多氯联苯（ＰＣＢｓ）中１７个２，３，７，８位有氯取代的二　同族体，获得准确的定量结果，加入￣（１３）Ｃ标记物的ＰＣＢｓ样品用多级酸碱硅胶柱和氧化铝柱提取分离，用毛细管色谱／高分辨质谱定量，２种样品中都含有较多的２，３，７，８－ＴＣＤＦ和２，３，７，８－Ｐ＿５ＣＤＦ。１￣＃ＰＣＢ的２，３，７，８－ＴＣＤＤ毒性当量值为２１７ｎｇ／ｇ，２￣＃ＰＣＢ为４１７ｎｇ／ｇ，毒性主要来自ＰＣＤＦｓ，并与国外同类商品ＰＣＢｓ作了比较。     

中国臭氧时空分布特征及与社会经济因素影响分析

本文根据2015～2017年中国大陆338个城市空气质量监测站臭氧(O_3)浓度数据,综合利用空间插值法、全局自相关法和地理加权回归模型(GWR),探讨了O_3浓度的时空变化特征及其与社会经济因素的关系。结果表明,2015～2017年中国大陆338个城市的O_3日最大8小时浓度为2～300μg/m~3,其中超标天数比例为5. 9%,323个城市达标率在85%以上; O_3月均值变化曲线基本呈"单峰状",5月达到峰值,12月最低; O_3浓度季节变化为夏季春季秋季冬季; O_3日变化特征为夜间到清晨O_3浓度很低,上午8∶00左右开始升高,下午16∶00达到峰值;中国华北地区、华东地区和华中地区O_3污染严重,华南地区、西南地区、西北地区和东北地区整体污染较低。O_3浓度在全国尺度上的集聚性呈上升趋势,GWR表明,人口密度、人均私家车保有量与O_3浓度显著正相关,第一产业占比与O_3浓度显著负相关。     

基于Landsat-8的城市湖泊水体总悬浮物吸收系数的遥感反演——以杭州西湖为例

近年来城市湖泊水质受到广泛关注.总悬浮物(total suspended matter,TSM)是水质和水环境评价的重要参数之一,其直接决定着水下光场分布,进而影响水体的初级生产力.本研究基于在杭州西湖的各湖区收集的遥感反射率(R_(rs),sr~(-1))数据和总悬浮物的吸收系数(a_p(440),m~(-1))进行高光谱建模,比较不同经验函数形式和不同模型输入的效果,得到高光谱下的最佳函数是指数函数,最佳模型输入是B1/B2或(B1-B2)/(B1+B2).其中,当模型输入为B1/B2和(B1-B2)/(B1+B2)时,模型R~20.6,波段B1和B2范围分别是580～690 nm和515～535 nm,及700～720 nm和515～615 nm.参照最佳波段范围和Landsat-8的波段设置,选定Landsat-8红色和绿色波段反演模型.并根据卫星数据验证结果,选定最优模型a_p(440)=51.17e~(-7.75x),x=(OLI3-OLI4)/(OLI3+OLI4),在3幅Landsat-8图像上应用模型,观察西湖TSM的变化.研究结果发现人类活动可能对西湖的TSM有很大的影响,并且我们的研究和结果有望为未来城市湖泊水质管理提供方法、数据和指导.     

欧洲规范关于延性桥梁抗震设计方法的安全性评价

评价了欧洲桥梁抗震设计规范 (Eurocode 8,part2 ) [1] 关于延性桥梁抗震设计方法的安全性。以一座高架桥横向抗震设计为例 ,按 3个不同的性能系数设计圆柱式桥墩 ,根据欧规规定的最小配箍率配置箍筋 ,使用自编程序MCAP[2 ] 评价其实际达到的延性水平 ,并通过非线性时程分析评价其抗震性能。结果表明 ,欧洲规范规定的最小配箍率足以保证结构达到预期的最低延性能力 ,性能系数具有相当大的安全储备。同时可以借鉴欧洲规范 ,作为延性桥梁抗震设计的一种安全设计方法。