Prenatal prediction of childhood-onset spinal muscular atrophy (SMA) in Turkish families

Childhood-onset spinal muscular atrophy (SMA) is one of the most common neurodegenerative genetic disorders. SMN1 is the SMA-determining gene deleted or mutated in the majority of SMA cases. There is no effective cure or treatment for this disease yet. Thus, the availability of prenatal testing is important. Here we report prenatal prediction for 68 fetuses in 63 Turkish SMA families using direct deletion analysis of the SMN1 gene by restriction digestion. The genotype of the index case was known in 40 families (Group A) but unknown in the remaining 23 families (Group B). A total of ten fetuses were predicted to be affected. Eight of these fetuses were derived from Group A and two of these fetuses were from Group B families. Two fetuses from the same family in Group A had the SMNhyb1 gene in addition to homozygous deletion of the NAIP gene. One fetus from Group A was homozygously deleted for only exon 8 of the SMN2 gene, and further analysis showed the presence of both the SMN1 and SMNhyb1 genes but not the SMN2 gene. In addition, one carrier with a homozygous deletion of only exon 8 of the SMN1 gene was detected to have a SMNhyb2 gene, which was also found in the fetus. To our knowledge, these are the first prenatal cases with SMNhyb genes. Follow-up studies demonstrated that the prenatal predictions and the phenotype of the fetuses correlated well in 33 type I pregnancies demonstrating that a careful molecular analysis of the SMN genes is very useful in predicting the phenotype of the fetus in families at risk for SMA. Copyright © 2002 John Wiley & Sons, Ltd.     

随机振动响应峰值因子的预计理论研究

简要介绍了超越概率理论、超越频次理论、损伤等效理论和功率谱密度(PSD)的时域拟合理论等4种常见的峰值因子预计理论,并基于三角级数提出了一种新的预计理论。结合试飞加速度数据样本,对比分析超越频次理论、PSD时域拟合理论和三角级数理论的预估精度。研究表明,上述4种常见的预计理论本质上属于统计学理论;PSD时域拟合理论预计的峰值因子波动较大,峰值因子与归一化次数满足高斯分布;三角级数理论的预估精度较高,但缺乏离散峰个数的合理判据。     

黄河三角洲典型地区耕地土壤养分空间预测

掌握土壤养分的分布特点是实现养分优化管理的重要基础。论文选择黄河三角洲典型地区山东省垦利县为研究区,通过田间采样与实验室化验分析获取了1 278个样本（0~20 cm）的土壤碱解氮、有效磷、速效钾数据。在经典统计分析的基础上,用地统计学方法分析了土壤养分的空间变异特征,并拟合了养分的变异函数模型。利用普通克里格法（OK）、反距离权重法（IDW）、泛克里格法（UK）、径向基函数法（RBF）和局部多项式法（LP）5种方法进行空间插值,并采用独立数据集验证对插值结果进行精度评价,进而分析了各养分空间分布规律。为深入探索各方法的适用性规律,基于AN数据设计了离散、随机、聚集3种空间分布模式的数据,利用各模型的自动优化进行试验,对比分析了不同插值方法在土壤养分空间预测中的自适应性。结果表明：1）研究区碱解氮、有效磷、速效钾均为中等强度的空间变异和中等程度的空间自相关,其变异函数模型分别为球状模型、指数模型和球状模型,决定系数依次为0.951、0.892和0.787;2）在空间分布上,土壤碱解氮、有效磷、速效钾含量与地形和土地利用类型等有关,西南部地势较高,以水浇地和旱田为主,东北部沿黄农田受黄河淡水影响,耕地质量较好,而中部地区地势低平,以水田为主,养分含量偏低;3）相对于块金系数/基台值,Moran’s I是更为稳健有效的衡量土壤养分空间自相关性的方法;4）论文认为,空间分布模式、样本量、空间自相关性和空间聚集程度（最近邻比）均影响插值精度。在离散模式下,各方法自适应性均较差;在随机模式下,IDW与RBF自适应性优于OK和LP;在聚集模式下,各方法自适应性与样本量和空间自相关性有关,直至样本足够多时,4种插值方法精度接近。论文探明了研究区主要土壤养分的最佳插值预测方法,分析了土壤养分的变异特征和空间分布规律,为黄河三角洲典型地区耕地土壤养分利用管理和农业可持续发展提供了理论依据。     

大气自净能力指数的气候特征与应用研究

为了定量地评估污染气象条件对空气污染的作用并实现对空气污染潜势的预报,本文在城市大气污染数值预报系统（CAPPS）预报原理的基础上,定义了大气自净能力指数,并分别给出了采用气象站观测资料和通过数值模拟计算大气自净能力指数的方法.基于气象站观测资料的全国大气自净能力指数分析计算表明,全国大气自净能力最差的地区分布在四川盆地和新疆塔里木盆地,大气自净能力最强的地区分布在青藏高原、蒙古高原、云贵高原、以及东北平原和三江平原、山东半岛和海南岛;1961~2017年,京津冀、长三角和珠三角地区的大气自净能力指数呈下降的变化趋势,全年低自净能力日数呈上升的变化趋势.采用大气自净能力指数评估2014年北京APEC会议期间大气污染防控效果,表明在11月8~10日极端不利扩散气象条件发生时,减排措施使北京市空气质量AQI平均降低77%,使京津冀平原地区11个城市的空气质量AQI平均降低37%.基于国家气候中心月动力延伸气候预测模式（DERF2.0）的预报产品和中尺度模式（WRF）,建立了可以预测全国未来40d逐日大气自净能力指数的延伸期-月尺度大气污染潜势预测系统,回报实验表明,在大多数情况下可以提前15d预报出大气重污染过程;月尺度的大气重污染过程预报效果更大程度上取决于月动力延伸气候预测模式（DERF2.0）的预报准确率.     

飞机用铝合金腐蚀行为和腐蚀预测研究现状及问题分析

针对不同的航空铝合金结构及部位,从腐蚀机理、腐蚀行为和腐蚀预测技术三方面较为系统地分析了研究现状及进展。在此基础上,明确了航空铝合金腐蚀预测技术需要进一步研究的问题,分别为飞机结构表面腐蚀环境的确定问题,材料在海洋大气环境下腐蚀电化学性能的准确测量问题,腐蚀预测模型的选取问题。     

增压站低频噪声识别与控制

目的解决天然气增压站低频噪声严重的问题,识别低频噪声源,并对低频噪声加以控制。方法结合压缩机组的实际工作情况及结构,首先利用频谱及1/3倍频程分析增压站机组的振动和噪声特性,初步确定压缩站机组低频噪声与机组振动的关系,进一步利用相干函数分析法分析振动与低频噪声的相干关系,判定低频噪声并不是由振动主要引起的。结果机组的主要噪声源为冷却器和压缩缸的进排气管,低频噪声污染主要是由于机组周期性吸排气时,管道和机组壁投射出的空气动力性噪声所造成的,而机组振源的剧烈振动不是产生低频噪声污染的主要原因。进排气管可产生高达80 d B(A)的全频带噪声,其中包含声压级可高达100 dB的次声,尤其以频率11 Hz和17 Hz为主,并且传播距离远,通透力强,对人员和环境危害大。结论首先依据进排气管为主要噪声源,其次结合压缩站实际情况,从压缩器机组整体的降噪设计及厂房治理的降噪设计两部分考虑提出相应的改进措施,从而为机组的降噪提供有效的方法。     

含弹内埋弹舱缩尺模型气动噪声特性研究

目的对含弹的内埋弹舱模型进行噪声仿真和试验研究。方法计算采用"CFD+CAA"的混合方法,采用DDES计算流场,基于M?hring声学类比方法得到测量点的噪声信息。采用该方法与空腔M219标准试验结果进行对比。内埋弹舱吹风试验在全消声室中进行,并采用传声器阵列识别主要噪声源。结果计算与试验得到的不同来流条件下,不同测量点的噪声频谱曲线基本一致。弹舱内最大声压级出现在中间弹翼附近的侧壁上,与声源识别的主要噪声源的位置一致。结论该研究可为内埋弹舱的设计提供参考和技术支持。     

南京市建筑施工环境噪声的管理与对策

针对建筑施工环境噪声扰民问题投诉居高不下，提出环境监理部门要积极宣传环保法律法规，规范举报工作，认真受理投诉，以取得市民的理解与支持；严格审批夜间建筑施工，加大监管力度，做好对夜间施工现场的核查；加强行风建设，通过内强素质，提高自身的业务水平，监督与服务并重；拓展工作思路，加强与建工、公安、市容、市政供电等部门的合作，共同解决噪声扰民问题。     

Study on the effect of porous fence on air quality and traffic noise level around a double-decked road structure

Fence for traffic noise control sometimes causes adverse effect on air pollution. Thus in this study, performance of porous fence as a tool for control of both air pollution and noise pollution was evaluated. A two-dimensional numerical model for flow and pollutant concentration and an analytical model for traffic noise were utilized in the analysis of a double-decked road structure with fences only at ground (Case 1) and at both ground and upper deck (Case 2). Porous fences were assumed only at the ground level since the solid fences at the upper deck usually leads to desirable result on air pollution. Effects of the variable porosity on air quality and noise level near road were evaluated. Obtained results showed: (1) flow pattern in leeward of fence was drastically changed at 40–50% porosity in Case 1 and 50% in Case 2. The porosity larger than 40% excluded presence of a circulation behind the fence. (2) Effect of porous fence on air pollution was different in Cases 1 and 2. In Case 1, the porous fence generally resulted in the reduction of air pollution at the ground level; on the other hand, in Case 2, it rather led to increase of the concentration. (3) Traffic noise level was also largely changed by the porosity of the fence; an example of simultaneous evaluation of the effects of porous fence on both air and noise pollution in Case 1 showed that the fence of 60% porosity leads to reduction of air pollution by 20% compared with solid fence case, and reduction of noise pollution by 4–6% in dB compared with no fence case, at l m high and 10 m from the road.     

噪声监测中存在问题的探讨

阐述了噪声监测中存在的问题，对监测点位的科学设置、测量时间和监测仪器的合理安排、如何正确地把握评估标准等作了探讨。