Shortened fetal long bones: A notable intrauterine phenotypic feature in SHOX-associated skeletal dysplasia

Objective

To explore the intrauterine phenotypic spectrum of short stature homeobox-containing (SHOX) gene-associated skeletal dysplasia and provide genetic counseling at-risk pregnancies.

Method

We analyzed the fetuses with SHOX-microdeletions identified by single nucleotide polymorphism (SNP)-array. The intrauterine phenotypes and outcomes were further elaborated.

Results

Nine fetuses carrying a single SHOX-microdeletion were reported, with deletion sizes ranging from 0.134 to 1.35 Mb. Shortened long bones were observed in all fetuses, varying from −2.0 standard deviation (SD) to −5.3 SD. Moreover, all cases had a femur length/foot ratio less than 0.87 and a femur/abdominal circumference ratio greater than 0.16, suggesting that non-lethal skeletal dysplasia may be involved. Two fetuses showed intrauterine growth restriction, and two had nasal bone hypoplasia. Prenatal ultrasonography did not reveal other obvious anomalies, including the Madelung deformity. Five microdeletions were inherited and one was de novo. Five terminations and four newborns were recorded. Two newborns had normal stature, and two were short-statured (height <3rd percentile), with one having inflexible wrists.

Conclusions

SHOX haploinsufficiency may manifest with shortened fetal long bones. The combination of history taking, prenatal ultrasonography, and SNP-array can prompt early prenatal diagnosis and timely postnatal treatment of SHOX-associated skeletal dysplasia.     

黔西南喀斯特地区国土空间规划“双评价”技术与实践:以义龙新区为例

国土空间规划是落实主体功能区战略、绘制未来“美丽国土一张蓝图”的重要抓手,资源环境承载能力和国土空间开发适宜性评价是国土空间规划编制的前提和基础.以贵州省黔西南布依族苗族自治州义龙新区为研究对象,围绕生态保护、农业生产、城镇建设功能特征,以定量方法为主、定性方法为辅,依次开展了资源环境要素单项评价、资源环境承载能力集成评价、国土空间开发适宜性评价,并与现状土地利用进行对比,识别其国土空间开发问题和潜力.结果表明:①义龙新区生态保护极重要区面积占比为36.93%,农业生产适宜区面积占比为24.84%,城镇建设适宜区面积占比为25.08%,三者可分别作为重点生态功能区、农产品主产区、城市化发展区.②生态保护极重要区中基本农田面积为23.60 km2、一般农用地面积为15.21 km2,农业生产不适宜区中基本农田面积为72.17 km2、一般农用地面积为27.63 km2,地块功能指向重叠性较大,建议结合城市发展意向,明确不同区域功能指向的侧重.③后备耕地面积为131.87 km2,后备建设用地面积为114.85 km2,与实地核查结果相符.研究显示,构建的喀斯特地区“双评价”方法体系可以很好地应用于区域国土空间规划,实现了格网单元地域功能优化分区.      

Response of PM2.5-bound elemental species to emission variations and associated health risk assessment during the COVID-19 pandemic in a coastal megacity

The coronavirus (COVID-19) pandemic is disrupting the world from many aspects. In this study, the impact of emission variations on PM_2.5-bound elemental species and health risks associated to inhalation exposure has been analyzed based on real-time measurements at a remote coastal site in Shanghai during the pandemic. Most trace elemental species decreased significantly and displayed almost no diel peaks during the lockdown. After the lockdown, they rebounded rapidly, of which V and Ni even exceeded the levels before the lockdown, suggesting the recovery of both inland and shipping activities. Five sources were identified based on receptor modeling. Coal combustion accounted for more than 70% of the measured elemental concentrations before and during the lockdown. Shipping emissions, fugitive/mineral dust, and waste incineration all showed elevated contributions after the lockdown. The total non-carcinogenic risk (HQ) for the target elements exceeded the risk threshold for both children and adults with chloride as the predominant species contributing to HQ. Whereas, the total carcinogenic risk (TR) for adults was above the acceptable level and much higher than that for children. Waste incineration was the largest contributor to HQ, while manufacture processing and coal combustion were the main sources of TR. Lockdown control measures were beneficial for lowering the carcinogenic risk while unexpectedly increased the non-carcinogenic risk. From the perspective of health effects, priorities of control measures should be given to waste incineration, manufacture processing, and coal combustion. A balanced way should be reached between both lowering the levels of air pollutants and their health risks.     

在役储运装置安全控制系统改造要求

基于对国内在役储运装置(大型储油罐区、站场、长输管道)安全控制/管理现状调研分析,并结合国际国内标准IEC61508和IEC61511(GB/T20438和GB/T21109)及国外石油公司良好的工程实践,开展在役储运装置安全控制系统可靠性研究,制定适应于储运装置成套的安全控制方案,形成在役储运装置安全控制系统设置/管理要求。     

Total versus urban: Well-to-wheels assessment of criteria pollutant emissions from various vehicle/fuel systems

The potential impact on the environment of alternative vehicle/fuel systems needs to be evaluated, especially with respect to human health effects resulting from air pollution. We used the Greenhouse gases, Regulated Emissions, and Energy use in Transportation (GREET) model to examine the well-to-wheels (WTW) emissions of five criteria pollutants (VOCs, NO_x, PM₁₀, PM_2.5, and CO) for nine vehicle/fuel systems: (1) conventional gasoline vehicles; (2) conventional diesel vehicles; (3) ethanol (E85) flexible-fuel vehicles (FFVs) fueled with corn-based ethanol; (4) E85 FFVs fueled with switchgrass-based ethanol; (5) gasoline hybrid vehicles (HEVs); (6) diesel HEVs; (7) electric vehicles (EVs) charged using the average U.S. generation mix; (8) EVs charged using the California generation mix; and (9) hydrogen fuel cell vehicles (FCVs). Pollutant emissions were separated into total and urban emissions to differentiate the locations of emissions, and emissions were presented by sources. The results show that WTW emissions of the vehicle/fuel systems differ significantly, in terms of not only the amounts but also with respect to locations and sources, both of which are important in evaluating alternative vehicle/fuel systems. E85 FFVs increase total emissions but reduce urban emissions by up to 30% because the majority of emissions are released from farming equipment, fertilizer manufacture, and ethanol plants, all of which are located in rural areas. HEVs reduce both total and urban emissions because of the improved fuel economy and lower emissions. While EVs significantly reduce total emissions of VOCs and CO by more than 90%, they increase total emissions of PM₁₀ and PM_2.5 by 35–325%. However, EVs can reduce urban PM emissions by more than 40%. FCVs reduce VOCs, CO, and NO_x emissions, but they increase both total and urban PM emissions because of the high process emissions that occur during hydrogen production. This study emphasizes the importance of specifying a thorough life-cycle emissions inventory that can account for both the locations and sources of the emissions to assist in achieving a fair comparison of alternative vehicle/fuel options in terms of their environmental impacts.     

Fe0去除地下水Cr(Ⅵ)过程中的钝化作用及电化学解钝参数优化

零价铁（Fe⁰）广泛用于Cr（Ⅵ）污染地下水的修复,但存在Fe⁰钝化降低修复效率的问题。首先使用Fe⁰去除地下水中的Cr（Ⅵ）并制备不同钝化程度的钝化铁屑,然后采用电化学方法对钝化铁屑进行解钝,并通过单因素试验和正交试验研究电极设置、电解电压、电解时间及电极距对解钝效果的影响,同时对解钝溶液和解钝前后的铁屑及解钝过程中产生的沉淀进行分析。结果表明：以钝化铁屑作阳极时解钝效果最佳;解钝效果随电解电压增大先上升后降低,随电极距增大而降低,随电解时间增加而上升,3个因素对解钝效果的影响依次为电解时间>电解电压>电极距;X射线衍射仪、扫描电子显微镜和能谱分析表明,钝化铁屑在电化学作用下因表面沉淀脱落使得其活性得到有效恢复;钝化铁屑解钝的最佳条件（以钝化铁屑作阳极,电解电压为10 V,电解时间为60 min,电极距为2 cm）下,解钝后铁屑对Cr（Ⅵ）的去除率可恢复至原来的90%以上;解钝过程中不会促使Cr（Ⅲ）沉淀溶解,但会增加溶液中Fe的浓度。上述研究成果对提高Fe⁰修复Cr（Ⅵ）污染地下水的修复效果及材料使用率具有参考作用。

     

兴凯湖水体磷形态特征及与气候变化的响应关系

兴凯湖是亚洲东北部最大的淡水湖,水体总磷（TP）浓度超标是近年来兴凯湖水质下降的主要原因,气候可能对区域水质有重要的影响。以兴凯湖中国湖区为研究区域,通过分析兴凯湖水体磷素时空变化特征,探究其主要组成形态,明确区域内气候因子变化对兴凯湖水体TP浓度的影响。结果表明：1）2010—2021年,兴凯湖水体TP浓度整体呈先降后升的趋势,冰封期水质状况优于非冰封期,大兴凯湖TP浓度相较于小兴凯湖更高。2）2022年5月磷形态数据表明,大、小兴凯湖水体TP主要由颗粒态磷（PP）组成（占比为60%和76%）,PP是大、小兴凯湖TP超标的主要形态;小兴凯湖的PP与溶解磷浓度表现为北部高于南部,大兴凯湖PP浓度总体表现为东部高于西部,溶解磷浓度则呈相反趋势。3）近年来兴凯湖流域的气温及降水量均呈上升趋势,小兴凯湖TP浓度与气温、降水量均呈显著正相关,气温与降水增加可能会导致更多的营养盐进入水体,造成水质下降;大兴凯湖TP浓度与气候变化无明显相关性,但小兴凯湖与大兴凯湖的TP浓度之间呈显著正相关,表明大兴凯湖受区域气候变化影响较小,但其水质状况与小兴凯湖有紧密的关联性。无论冰封期还是非冰封期,小兴凯湖水质均优于大兴凯湖,作为大兴凯湖的前置湖泊,小兴凯湖在净化上游流域面源污染方面起到了重要的作用。

     

福州市主栽蔬菜品种对砷的积累及健康风险

为阐明福州市主要蔬菜基地种植的蔬菜中砷积累特征与食用风险水平,对研究区域内蔬菜和对应土壤中砷含量进行了分析检测,采用Monte-Carlo 模型法对蔬菜中砷引起的健康风险进行了评价,并探讨了蔬菜和土壤砷含量之间的相关性及不同品种、不同类别蔬菜之间积累砷的差异。结果表明：研究区内菜地土壤没有明显的砷超标,砷含量均未超出国家土壤二级标准（30 mg·kg-1）;研究区内蔬菜安全状态很好,不存在明显的健康风险;蔬菜中砷与其对应土壤中砷之间无显著相关性;不同类别的蔬菜之间对于砷的累积存在差异性,蔬菜中砷的富集系数顺序为叶菜类 > 根茎类 > 瓜果类,其中茼蒿的富集系数最大,豌豆和辣椒的最小。     

延迟焦化装置的定量风险评估

通过长岭分公司延迟焦化装置的定量风险评估,明确了装置中的主要危险设备,量化出装置的整体风险水平,促进了企业的安全生产.