Interrupted aortic arch type A with 22q11 deletion: prenatal detection of an unusual association

Interrupted aortic arch is a rare, severe congenital heart defect subdivided into three types, A, B and C, according to the site of interruption. Type C is by far the least common form of interrupted aortic arch (less than 5% of cases), type A is commonly an isolated defect whereas type B is frequently associated with 22q11 deletion. Differentiation of interrupted aortic arch type A from type B by prenatal echocardiography is possible but difficult; it needs to be done on the basis of observation of reliable morphological indicators which point to the correct diagnosis. Here we report the first case of prenatal diagnosis of interrupted aortic arch type A associated with 22q11 deletion. The significance of this association is not yet clear, since 22q11 genes mainly affect embryonic cardiovascular morphogenesis of those regions whose development is critically dependent on neural crest cell migration and function, affected in type B defect but not in type A. Copyright © 2002 John Wiley & Sons, Ltd.     

Prenatal diagnosis of de novo distal 11q deletion associated with sonographic findings of unilateral duplex renal system,pyelectasis and orofacial clefts

In utero diagnosis of de novo distal 11q deletion associated with renal and orofacial malformations has not been previously described. We present a 35-year-old pregnant woman with prenatal sonographic findings of a unilateral duplex renal system, pyelectasis and orofacial clefts at 20 weeks' gestation. Both genetic amniocentesis and postnatal cytogenetic analysis revealed de novo 46,XX,del(11)(q23). After birth, the fetus manifested a dysmorphic phenotype correlated with del(11q) syndrome. Genetic marker analysis showed a paternally derived distal deletion of chromosome 11q and a breakpoint centromeric to D11S1341. The present case represents the earliest prenatal diagnosis of a duplex renal system, pyelectasis and an additional feature of orofacial clefts associated with distal 11q deletion. Prenatal sonographic detection of a duplex renal system, pyelectasis and orofacial clefts should warrant a careful assessment of fetal anatomy and prompt cytogenetic analysis looking for chromosomal aberrations. Copyright © 2001 John Wiley & Sons, Ltd.     

驱动数据对流域水文模拟中不同结果要素的影响

流域水循环中各要素之间高度的非线性关系,使得驱动数据对模拟结果的影响研究变得复杂。结合站点实测和遥感的降水、温度和潜在蒸散发驱动数据,构建了叶尔羌河流域的8个MIKE SHE模型;根据方差分析模型（ANOVA）对模型“输入”与“输出”之间显著性影响检验的结果,以积融雪过程为例,剖析了驱动数据影响的具体表现。结果表明：相比站点数据,TRMM降水驱动的模型导致积雪输出的空间分布差异性更加明显;MODIS温度数据驱动的模型导致了中低山区的永久性薄层积雪覆盖更广,而高山区的储雪量更少;遥感蒸散发驱动的模型在积雪模拟方面并无显著差异。ANOVA对水文系统中要素之间的显著性假设检验,可为明晰驱动数据对水文过程的具体影响方式提供重要前提。     

中国城市综合减灾的未来学研究

本文从国内外大城市频发的事故灾害现状入手,扼要地探讨了有中国特色的2020年中国城市发展的综合减灾战略研究的框架思路,希望对国家"十一五"城市安全计划的研究制定有所借鉴和启发.     

An exploratory comparison of disasters, riots and terrorist acts

One question that emerged following the 11 September attacks was how to categorise and classify the event within existing disaster and conflict-event research frameworks. A decade ago, Quarantelli (1993) compared findings on the similarities and differences between consensus- and conflict-type events by illustrating a conceptual distinction between the two. In this paper, this discussion is expanded to include terrorist attacks by offering comparisons from research findings following 11 September. We provide analyses of individual, organisational, and community-level behaviour in crisis situations and suggest how 11 September is both similar to, and differs from, consensus- and conflict-type events as they were previously considered. Applications for emergency management are also suggested.     

湖北省环境保护“十一五”规划中期评估

采用定量评估和定性评估相结合的方式,对湖北省环境保护“十一五”规划中期实施情况进行评估。分析其实施过程中存在的主要问题,提出改进和加强的建议。     

双台子河橡胶坝对支流绕阳河纳潮的影响

基于Mike11 HD和AD模块建立双台子河口区感潮河段水动力-水质耦合模型,利用实测资料对水动力、水质模型参数进行了率定和验证。利用所建模型,以夏灌期为例分析了在两种水文条件下橡胶坝对支流绕阳河纳潮的影响。结果表明,在两种水文情景下,建橡胶坝后纳潮量分别增加18.3%和16.9%,最大流量分别增加了32.7%和31.2%。盐度分析表明修建橡胶坝对绕阳河纳潮盐度变化影响不大,可满足苇田灌溉对盐度的要求。研究结果可为盘锦双台子河口苇田科学灌溉、促进增产提供技术支持。     

孕鼠PFOS暴露对糖皮质激素水平及胎鼠生长发育的影响

为探究孕期全氟辛烷磺酸(PFOS)暴露与母源糖皮质激素(GC)水平、胎鼠生长发育之间的关系,将孕期为12 d(GD12)的24只SD雌性大鼠,随机分为4组给予不同剂量的PFOS(0,5,10,20 mg·kg-1),连续灌胃7 d,在GD19时对孕鼠和胎鼠的体重、胎鼠肝脏系数和肝脏生化指标、孕鼠血清的生化指标和GC水平、胎盘11β-羟基类固醇脱氢酶2(11β-HSD2)的酶学活性和胰岛素样生长因子-1(IGF-1)的mRNA表达水平分别进行检测。结果表明,与对照组相比:PFOS 20 mg·kg-1组,母鼠体重、胎鼠体重和体长显著下降(P0.001);PFOS 20 mg·kg-1组,胎鼠肝脏脏器系数低于对照组(P0.001);PFOS 10 mg·kg-1组,胎鼠肝脏中的酶活性(ALT、AST和ALP等)显著升高(P0.001);PFOS 20 mg·kg-1组,孕鼠血清GC水平升高(P0.05);胎盘IGF-1的mRNA表达水平随PFOS剂量升高而降低;胎盘11β-HSD2的活性随PFOS剂量升高而降低。研究表明,孕期暴露PFOS可以导致胎鼠肝脏毒性,降低胎盘11β-HSD2氧化活性导致GC浓度升高,进而影响胎鼠的生长发育。     

管网河道耦合的排水系统运营风险分析及治理措施

建立了混流式管网系统与受纳河道的耦合模型分析管网混接对河道水质造成的影响,以运营达标为目标研究了管网系统的运营风险,对风险区域的末端排口提出了针对性的治理措施.结果表明,研究区管网混流对河道水质影响相对较小,但对管网自身污染影响较大,需优先排查区域占流域面积的45.0％,主要集中在新城区;综合考虑节点积水、管线承压、河...     

Evaluation of the fish short term reproduction assay for detecting endocrine disrupters

In a fish testing strategy, positive results of the fish short term reproduction assay (FSTR), often trigger a definitive test like the fish sexual development test (FSDT) or the fish full life cycle test (FFLC), entailing ethical and economic problems. This study analysed 137 studies encompassing 35 chemicals with different modes of actions (MOAs). Variability is quantified for MOA endpoints vitellogenin (VTG) and secondary sex characteristics (SSCs) as well as for apical endpoints. Two MOA endpoints could indicate estrogenic, anti-estrogenic, androgenic, anti-androgenic and steroidogenesis activities. Great variability, however, has been observed for chemicals with anti-androgenic and steroidogenesis activities, suggesting that TG229/230 may not be sensitive enough to detect these types of chemicals and may produce false negatives. Changes in apical endpoints like fecundity are not limited to endocrine disrupting chemicals (EDCs). Non-EDCs could induce the similar effects on these apical endpoints. If elucidating MOA is needed, targeted in vitro MOA tests are suggested. Positive in vitro MOA results trigger a definitive test, which could be used for confirmation of the MOA in vivo and for deriving a no observed effect concentration (NOEC). Based on positive MOA results of TG229, a definitive test such as the FSDT or the FFLC is still needed, because the current TG229 has limitation on the derivation of a NOEC. An extended TG229 with more power to detect reproduction effects, as recently proposed in the OECD test guideline program, would improve the possibility to derive a NOEC and increase its usefulness in risk assessment.