Del(18p) syndrome with increased nuchal translucency in prenatal diagnosis

We report a de novo translocation between chromosome 15 and 18 resulting in monosomy 18p in prenatal diagnosis. The patient was referred for amniocentesis due to increased nuchal translucency (INT) (5 mm) at 13.6 weeks of gestation. Karyotype of the fetus revealed 45,XX,der(15;18)(q10;q10) in all metaphases. The targeted fetal ultrasound at 20 weeks of gestation did not show any special physical abnormalities other than 6.4 mm of nuchal fold thickness. Molecular cytogenetic findings using CGH and FISH confirmed the del(18p) with dicentromeres from both chromosome 15 and 18. The present study shows that the INT at first trimester was the only prenatal finding for the fetus with del(18p) syndrome and that molecular cytogenetic methods are useful for detecting chromosomal aberrations precisely. Copyright © 2004 John Wiley & Sons, Ltd.     

Prenatally detected double trisomy: Klinefelter and Down syndrome

Double trisomies are a rare occurrence. We report the first case of a Down and Klinefelter's syndrome (48,XXY,+21) in a fetus that was prenatally diagnosed during the 15th week of pregnancy. Even though the nasal bone was present, and the color-Doppler study of the ductus venosus and the nuchal thickness were normal, the maternal serum test results indicated an increased risk of Down syndrome and consequentially a genetic amniocentesis was performed. A 48,XXY,+21 karyotype was observed and the patient decided to terminate the pregnancy. In this case, we did not find the typical ultrasound (US) signs that would have led us to the chromosomopathy; furthermore, we emphasize the advantages of using biochemical screening which, in our case, were crucial in arriving at the correct diagnosis. Copyright © 2006 John Wiley & Sons, Ltd.     

Between pregnancy biological variability of first trimester markers of Down syndrome: implications for screening in subsequent pregnancies

In a group of 149 women who had undergone routine first trimester screening using fetal nuchal translucency thickness (NT) and maternal serum free β-hCG and pregnancy associated plasma protein-A (PAPP-A) in two consecutive pregnancies the within person between pregnancy biological variability of these markers has been assessed. For fetal NT there was no correlation between NT MoM in the first and second pregnancy (r=0.0800). For maternal serum free β-hCG MoM a significant correlation was observed (r=0.4174) as was also found for PAPP-A MoM (r=0.3270). The implications for such between pregnancy marker association is that women who have an increased risk of Down syndrome in their first pregnancy are 1.5–2 times more likely to repeat this event in their next pregnancy. This observation may be useful in counselling women in the first trimester screening of a subsequent pregnancy. Copyright © 2001 John Wiley & Sons, Ltd.     

基于生态安全的快速城市化地区空间冲突测度 ——以长株潭城市群为例

空间冲突是城市化过程中各种矛盾形成与激化的直接原因,是影响区域可持续发展的关键因素,合理测度快速城市化地区的空间冲突水平,对于优化区域发展模式、 避免区域生态风险具有重要意义。在利用遥感与GIS技术分析长株潭近年来空间格局变化的基础上,量化影响区域生态安全的空间外部压力值、 生态风险暴露值、 生态风险效应值3个因子,构建基于生态安全的空间冲突测度模型,对长株潭地区的空间冲突水平进行评估。研究表明:近年来长株潭地区的空间冲突作用强度总体呈现上升趋势,1993—2008年其冲突指数均值由0.264增长到0.323,且严重失控级别空间冲突的区域面积比例增幅最大,达1.07倍;不同空间类型的空间冲突强度不同,林地、 耕地的空间冲突水平相对较低,建设用地的空间冲突水平较高;城乡过渡地带是空间格局变化最为频繁、 空间冲突最为激烈的区域,其次是城市内部,农村地区的空间冲突强度远远低于城市。     

Ultrafine particle emission characteristics of diesel engine by on-board and test bench measurement

This study investigated the emission characteristics of ultrafine particles based on test bench and on-board measurements. The bench test results showed the ultrafine particle number concentration of the diesel engine to be in the range of (0.56-8.35) × 10⁸ cm^-3. The on-board measurement results illustrated that the ultrafine particles were strongly correlated with changes in real-world driving cycles. The particle number concentration was down to 2.0 × 10⁶ cm^-3 and 2.7 × 10⁷ cm^-3 under decelerating and idling operations and as high as 5.0 × 10⁸ cm^-3 under accelerating operation. It was also indicated that the particle number measured by the two methods increased with the growth of engine load at each engine speed in both cases. The particle number presented a "U" shaped distribution with changing speed at high engine load conditions, which implies that the particle number will reach its lowest level at medium engine speeds. The particle sizes of both measurements showed single mode distributions. The peak of particle size was located at about 50-80 nm in the accumulation mode particle range. Nucleation mode particles will significantly increase at low engine load operations like idling and decelerating caused by the high concentration of unburned organic compounds.     

不同地域的阳光光谱分布特性

目的研究阳光的光谱能量分布特性。方法对高原、西北沙漠、热带海洋等3个地域200~800 nm波段的阳光进行光谱测量,分析不同地区、不同天气状况、不同扫描速度下的阳光光谱能量分布特性。结果高原地区阳光光谱中的紫外-可见波段的辐照强度明显比西北沙漠和热带海洋地区高,多云时200~800 nm波段的辐射总量与晴天相比降低1/4,200~400 nm的紫外波段的辐射总量仅为晴天时的54%。光谱测量仪的扫描速度对光谱测定结果基本无影响。结论研究获得的阳光紫外截止点、340 nm处的辐照强度、不同波段的辐照量,可为实验室光源暴露试验中的光源选择、光谱能量控制提供参考。