A familial Xp+ chromosome detected during fetal karyotyping,which is associated with short stature in four generations of a Turkish family

The short-stature homeobox-containing gene (SHOX) on chromosome Xp22.3 was recently identified as an important determinant of the stature phenotype. Deletions of the SHOX gene, some of them due to structural chromosome abnormalities, have been described in patients with idiopathic short stature and Leri-Weill syndrome. Additionally, haploinsufficiency of SHOX is a main cause for short stature seen in patients with Turner syndrome. Here we report an unusual X-chromosome abnormality, which was detected during a fetal karyotyping performed because of a previous child with Down syndrome. GTG banding demonstrated an extra chromosome segment on the terminal part of the short arm of chromosome X in the index case (karyotype: 46,X,Xp+). The same chromosomal abnormality was found in the mother and the maternal grandmother. All carriers of this chromosomal abnormality presented with short stature but no other associated symptoms. Whole chromosome painting of X revealed a homogeneous painting of the abnormal X chromosome indicating that no other chromosome was involved. Additional FISH studies with probe DXS1140 (Kallmann probe at Xp22.3), Quint-Essential X-Specific DNA (DMD probe at Xp21.2), XIST (at Xq13.2), and Tel Xq/Yq were performed, and no abnormality was observed in the intensities or the localizations of the probes signals. However, applying a specific SHOX gene probe (derived from cosmid LLNONO3M34F5) showed a loss of signal on the derivative X chromosome. Our results show that the Xp+ generation led to a deletion of the complete SHOX gene and caused short stature in the presented family. Copyright © 2003 John Wiley & Sons, Ltd.     

江汉平原涝渍地域分异规律研究

通过五年研究，澄清了江汉平原涝渍灾害形成的原因。根据微地貌特点和涝渍状况将江汉平原涝渍地域土地分为7种类型：洲滩平地季节性洪涝地域，淤高平地季节性暗渍地域，中间平地季节性渍害地域，低湿平地渍害地域，滨湖平地涝渍地域，湖泊水面调蓄地域，碟形洼地涝渍圈。江汉平原涝渍微地域分异和演变规律主要表现在6个方面：(1)在平面上与河流呈水平带状分布；(2)在空间上呈梯度分布；(3)碟形洼地涝渍特征呈同心圆分布；(4)涝渍微地域随时间推移发生有序地演变；(5)人类活动越来越成为江汉平原涝渍地域分异的主导因素；(6)江汉平原涝渍微地域与涝渍灾害呈显著的相关性。根据江汉平原涝渍微地域涝渍发生特征，提出了因地制宜、分区开发的指导思想，并选点进行了实证开发示范，取得了显著成效。     

《工伤保险条例》立法偏向的探讨

在介绍和分析《工伤保险条例》现有评论意见的基础上,从不同的视角分析《工伤保险条例》对《企业职工工伤保险试行办法》的关键修订点,笔者认为,尽管《工伤保险条例》对以往的工伤保险制度作出了一些重要的修正,但透过几处关键的改点,可以认为她是一部在一定程度上弱化了工伤劳动者权益保护的法规。     

浅析中国清洁生产及其相关法律法规

清洁生产是中国实现可持续发展的最佳战略,自《中华人民共和国清洁生产促进法》实施以来,中国清洁生产取得积极进展。目前,修订后的清洁生产促进法发布,意义深远。通过分析中国清洁生产的发展历程及不同时期颁布的有关政策法规,提出在新形势下完善中国清洁生产相关法律法规的几点建议。     

广州市实施I/M简易瞬态工况检测方法的环境效果分析

采用简易瞬态工况法对在用车进行检测,能够更为有效地筛选高排放车辆.2007—2009年广州市轻型汽油车的简易瞬态工况法的初检数据表明,国Ⅰ排放标准实施以前(简称"国Ⅰ前")车辆和国Ⅰ及以后排放标准车辆排放超限值比例分别为20.1%和17.6%.简易瞬态工况法复检数据得到的国Ⅰ前和国Ⅰ及以后车辆经维护后能够达标的比例分别为76.0%和64.7%,且经过有效维护后超标车辆的平均排放水平有较大比例的削减.同时,采用修正的MOBILE5模型对广州市轻型汽油车排放进行模拟.结果发现,广州市2009年轻型汽油车的CO、HC和NO_x排放量分别为24.4×10⁴、3.8×10⁴和1.8×10⁴ t.如果考虑I/M制度实施及实际执行率,复检不达标车辆在全部淘汰情景下,2009年广州市轻型汽油车排放的CO、HC和NO_x分别能削减4.20×10⁴、0.58×10⁴和0.15×10⁴ t,占全部轻型汽油车的削减比例分别为17.2%、15.3%和8.2%;而在全部置换为国Ⅳ新车情景下,3种污染物分别能削减4.12×10⁴、0.57×10⁴和0.14×10⁴ t,削减比例分别为16.9%、15.0%和8.0%.国Ⅰ前及国Ⅰ车辆对CO和HC削减量的贡献达到90%左右,对NO_x削减量的贡献也在85%左右.     

化学提取法表征污染土壤中PAHs老化规律和蚯蚓富集特征

以添加3种典型多环芳烃(菲、芘、苯并[a]芘)的模拟污染土壤(黄壤和红壤)为对象,研究了PAHs的4种化学提取量即:ASE耗竭性提取总量、Tenax-TA树脂提取量、羟丙基-β-环糊精(HPCD)提取量和正丁醇提取量随老化时间的变化规律.结果表明,在0~60 d老化时间范围内,PAHs耗竭性提取总量在前30 d随时间的延长而降低,后30 d降低趋势不明显,含量基本稳定;PAHs的Tenax、HPCD、正丁醇提取量在0~60 d老化时间范围内,随老化时间的延长而持续降低.实验进一步研究了PAHs的蚯蚓蓄积量(赤子爱胜蚓Eisenia fetida)与4种化学法提取量的相关关系.结果显示,ASE耗竭性提取总量高估了土壤中PAHs的存在风险,并且与蚯蚓富集量没有显著的相关性(R~2为0.44~0.56),因此不能用耗竭性提取总量来评估污染土壤PAHs的生物有效性;而3种非耗竭性提取量与蚯蚓富集量呈现出较好的线性关系,其中HPCD提取法(R~2为0.94~0.99)较Tenax提取(R~2为0.62~0.87)和正丁醇提取(R~2为0.69~0.94)更优.表明可以将HPCD提取法作为预测污染土壤中PAHs生物有效性的一种较为理想的方法.     

纵深大区域煤层群开采覆岩活动规律相似模拟

以大同矿区"双系"煤层群协同开采为工程背景,相似模拟实验研究了纵深大区域煤层群开采覆岩位移、裂隙及应力演化分布规律。结果表明:侏罗系近距离煤层群采用刀柱式与走向长壁式开采交错布置方式,形成不同的组合开采模式,表现出不同的覆岩破断特征,应力集中现象突出;石炭系特厚煤层开采致使覆岩大面积垮落,与上部侏罗系煤层群形成了复杂的多层采空区连通状态,且受侏罗系煤柱叠加应力影响,工作面来压频繁、覆岩活动剧烈。纵深大区域煤层群覆岩应力应变形态作为耦合时变系统,随煤层开采经历了"平衡—失稳—平衡"循环变化过程。     

Conditional Water Rights in the Western United States: Introducing Uncertainty to Prior Appropriation?

In the prior‐appropriation water rights regimes that prevail in the arid western United States, claims to annually variable surface water flows are fulfilled based on the order of their establishment. The two‐step process used to establish an appropriative water right in all 17 conterminous western states creates a temporary phase, or conditional water right, which has a priority date but no actual water use. We provide a review of the legal basis for these conditional water rights and demonstrate the potential uncertainty they introduce to current water users. We then present a complete census of conditional water rights in Colorado, including their amounts, ages, and uses. At the end of 2012 there were a large number of conditional water rights in Colorado (some over 90 years old) equal to 61% of the perfected water rights. Many of the controversial conditional water rights in Colorado have been associated with unconventional oil production in the northwestern portion of the state; however, conditional water rights are ubiquitous across the state and across many use types. In several basins, their existence can introduce uncertainty to some of the most senior water rights holders. Nevertheless, in most of the state, the effects of conditional water rights are restricted to a relatively junior class of water users. This work quantifies for the first time the result, in one state, of a peculiar aspect of water law common across all western prior‐appropriation states.     

重、特大煤矿事故的时间规律

针对1970年以来1400多起重、特大煤矿事故,应用统计分析方法,探讨了煤矿重、特大事故的时间规律以及不同事故类型与死亡人数之间的关系,发现重、特大煤矿事故与月份、每天不同时间段等有一定相关.每年11、4、3、5、6等月份重、特大事故较多,2月份事故次数最少(Asymp Sig=0.018),时间上重、特大事故高峰时段主要集中在9:00-13:00(Asymp Sig=0.000).自70年代以来单次事故死亡人数没有明显减少,不同事故类型与死亡人数有明显不同(Asymp Sig=0.000),瓦斯事故、煤尘事故、火灾、水灾、煤与瓦斯突出等单次影响较大,事故的时间规律在日期上显现不明显(Asymp Sig=0.262).预防重、特大事故应尤其注意相应的时间段和相应的事故类型.     

对我国基层环境执法后督察机制建设的思考

介绍了我国基层环保部门执法后督察取得的成效、存在问题，并提出对策建议。