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.     

The effect of nitrogen deficiency,methionine and inhibitors of methionine metabolism on the DMSP contents of Tetraselmis subcordiformis (Stein)

The unicellular alga Tetraselmis (Platymonas) subcordiformis (Prasinophyceae) displayed a two-phase increase in DMSP (dimethylsulfoniopropionate) contents in response to nitrogen deficiency. In the first phase, DMSP pools increased by 75% within 24 h. The second increase in DMSP was observed after 14 d and was accompanied by cyst formation. Methionine metabolism was involved in DMSP accumulation. A 2.6-fold increase of the DMSP pool could be induced by supplementing a complete ASP (artifical seawater Provasoli) medium with 100 M L-methionine. Inhibition of methionine utilization by T. subcordiformis caused by the addition of S-adenosylhomocystein, a competitive inhibitor of S-adenosylmethionine-dependent transmethylases, resulted in a 24% increase of DMSP contents after 7 h. DMSP accumulation after hyperosmotic shock was significantly delayed when methionine liberation from proteins was inhibited by a set of protease inhibitors. A model for the mechanism of DMSP accumulation is presented on the basis of these data and additional information from the literature. It is proposed that methionine availability in T. subcordiformis determines the rate of DMSP synthesis.     

科技创新投入对环境全要素生产率的影响机制

使用2004~2015年的中国280个地级市的面板数据,对科技创新投入与环境全要素生产率间的非线性关系、内部影响机理和空间异质性进行分析,结果显示：科技创新投入与环境全要素生产率之间呈现倒N型关系,两个拐点的位置分别为7.722（2257.47万元）和9.610（14913.17万元）;在外部资本进入、污染治理、市场规模效应3种影响路径中,科技创新投入影响下的外部资本进入对环境全要素生产率依然存在污染避难所的负向效应,科技创新投入与外部资本间效应为0.1363,外部资本与环境全要素生产率间效应为-0.0065;科技创新投入能够增强企业的污染治理技术并提高环境全要素生产率,三者间前后效应分别为-0.0277和-0.0311;科技创新的投入与高效益增强了市场规模效应,有效促进生产结构的转型进而提高环境全要素生产率,三者间前后效应为0.0186和0.4346.空间异质性中,外部资本进入与溢出效应带来的污染避难所负效应在中部地区显著,在西部和东北部地区不显著,而污染天堂正效应在东部地区存在但不显著;污染创新治理投入的技术正溢出效应在东部和西部地区效应显著,在中部和东北部不显著;科技创新投入与市场需求规模效应在空间区域无差异且显著为正.建议依据科技创新投入的不同影响路径来实施空间差异化策略.     

新型厌氧多级喷动床及其厌氧氨氧化脱氮性能分析

为改善厌氧反应器内的流态,加快污泥的颗粒化和形成具有生态梯度的微生物生态系统,设计并制作了新型厌氧多级喷动床,实验测试了反应器的水力喷动、气体喷涌和污泥分层分级现象。在常温下,利用新型厌氧多级喷动床接种混合污泥,经过42 d的培养,成功启动厌氧氨氧化反应器,稳定运行18 d后,NH₄+-N、NO₂--N去除率均达到90%以上。启动60 d后,反应器底部出现大量粒径2 mm左右的颗粒污泥,且污泥具有良好的稳定性和沉降性能,沉降速度达到70 m/h。结果表明:厌氧多级喷动床因其特殊的水力结构,可有效加快污泥的颗粒化。     

Synergistic effects of Cu species and acidity of Cu-ZSM-5 on catalytic performance for selective catalytic oxidation of n-butylamine

In this work, a series of Cu-ZSM-5 catalysts with different SiO₂/Al₂O₃ ratios (25, 50, 100 and 200) were synthesized and investigated in n-butylamine catalytic degradation. The n-butylamine can be completely catalytic degradation at 350°C over all Cu-ZSM-5 catalysts. Moreover, Cu-ZSM-5 (25) exhibited the highest selectivity to N₂, exceeding 90% at 350°C. These samples were investigated in detail by several characterizations to illuminate the dependence of the catalytic performance on redox properties, Cu species, and acidity. The characterization results proved that the redox properties and chemisorption oxygen primarily affect n-butylamine conversion. N₂ selectivity was impacted by the Brønsted acidity and the isolated Cu²⁺ species. Meanwhile, the surface acid sites over Cu-ZSM-5 catalysts could influence the formation of Cu species. Furthermore, in situ diffuse reflectance infrared Fourier transform spectra was adopted to explore the reaction mechanism. The Cu-ZSM-5 catalysts are the most prospective catalysts for nitrogen-containing volatile organic compounds removal, and the results in this study could provide new insights into catalysts design for VOC catalytic oxidation.     

Chemical characteristics of road dust PM2.5 fraction in oasis cities at the margin of Tarim Basin

In order to understand the compositions characteristics of particulate matter with aerodynamic diameter less than 2.5 μm (PM_2.5) fraction in road dust (RD_2.5) of oasis cities on the edge of Tarim Basin, 30 road dust (RD) samples were collected in Kashi, Cele, and Yutian in the spring, 2018, and RD_2.5 was collected using the resuspension approach. Eight water-soluble ions, 39 trace elements and 8 fractions of carbon-containing species in PM_2.5 were analyzed. Ca²⁺ and Ca were the most abundant ions and elements in RD_2.5 (7.1% and 9.5%). Cl^- in RD_2.5 was affected not only by attributed to saline-alkali soils in oasis cities of the Tarim Basin and dust from Taklimakan Desert but also by human activities. Moreover, the organic carbon/elemental carbon (OC/EC) ratio indicated that carbon components in RD_2.5 in Cele town mainly come from fossil fuel combustion, while those in Yutian and Kashi mainly come from biomass combustion. It is noteworthy that high Ca in RD_2.5 was seriously affected by anthropogenic emissions, and high Na and K contents in RD_2.5 could be derived from soil and desert dust. It was estimated that Cd, Tl, Sn and Cr were emitted from anthropogenic emissions using the enrichment factor. The coefficients of divergence (COD) result indicated that the influence of local emission on road dust emission is greater than that of long-distance transmission. This study is the first time to comprehensively analyze the chemical characteristics of road dust in oasis cities, and the results provides the sources of road dust at the margin of Tarim Basin.     

Sources, distribution, and risk assessment of organochlorine pesticides in Nairobi City, Kenya

The distribution and sources of organochlorine pesticides (OCPs) in air and surface waters were monitored in Nairobi City using triolein-filled semipermeable membrane devices (SPMDs). The SPMDs were extracted by dialysis using n-hexane, followed by cleanup by adsorption chromatography on silica gel cartridges. Sample analysis was done by GC-ECD and confirmed by GC–MS. Separation of means was achieved by analysis of variance, followed by pair-wise comparison using the t-test (p≤ 0.05). The total OCPs ranged between 0.018 – 1.277 ng/m³ in the air and <LOD – 1391.000 ng/m³ in surface waters. Based on the results, the means of Industrial Area, Dandora and Kibera were not significantly different (p≤ 0.05), but were higher (p≤ 0.05) than those of City square and Ngong’ Forest. The results revealed non-significant (p≤ 0.05) contribution of long-range transport to OCP pollution in Nairobi City. This indicated possible presence of point sources of environmental OCPs in the city. The water-air fugacity ratios indicated that volatilization and deposition played an important role in the spatial distribution of OCPs in Nairobi City. This indicated that contaminated surface waters could be major sources of human exposure to OCPs, through volatilization. The incremental lifetime cancer risks (ILCR) determined from inhalation of atmospheric OCPs were 2.3745  ×  10^?13 – 1.6845  ×  10^?11 (adult) and 5.5404  ×  10^?13 – 3.9306  ×  10^?11 (child) in the order: Dandora > Kibera > Industrial Area > City Square > Ngong’ Forest. However, these were lower than the USEPA acceptable risks, 10^?6 – 10^?4. This study concluded that atmospheric OCPs did not pose significant cancer risks to the residents.     

Analytical methods and environmental processes of nanoplastics

The degradation of plastic debris may result in the generation of nanoplastics (NPs). Their high specific surface area for the sorption of organic pollutions and toxic heavy metals and possible transfer between organisms at different nutrient levels make the study of NPs an urgent priority. However, there is very limited understanding on the occurrence, distribution, abundant, and fate of NPs in the environment, partially due to the lack of suitable techniques for the separation and identification of NPs from complex environmental matrices. In this review, we first overviewed the state-of-the-art methods for the extraction, separation, identification and quantification of NPs in the environment. Some of them have been successfully applied for the field determination of NPs, while some are borrowed from the detection of microplastics or engineered nanomaterials. Then the possible fate and transport of NPs in the environment are thoroughly described. Although great efforts have been made during the recent years, large knowledge gaps still exist, such as the relatively high detection limit of existing method failing to detect ultralow masses of NPs in the environment, and spherical polystyrene NP models failing to represent the various compositions of NPs with different irregular shapes, which needs further investigation.     

基于底栖动物的松花江流域不同地形分区水质指标阈值研究

为全面了解松花江流域不同地形分区内底栖动物群落对水质指标的响应规律,识别不同分区水质指标指示物种的差异,于2016—2018年对松花江流域97个采样点的水质指标〔EC、ρ（DO）、ρ（COD_Mn）、ρ（NH₃-N）、ρ（TN）、ρ（TP）〕和大型底栖动物群落进行调查分析,采用临界指示物种分析法（threshold indicator taxa analysis,TITAN）分别探讨松花江流域山区、丘陵区和平原区水质指标的生态阈值,当污染物浓度超过负响应阈值时敏感种密度降低,当超过正响应阈值时耐受种也会受到明显影响,底栖动物群落结构会发生显著变化.将TITAN法所得的负响应阈值作为触发底栖动物群落发生变化的最低值,正响应阈值为底栖动物群落的耐受极限值.结果表明:①松花江流域水质指标在不同地形分区内的阈值不同,除ρ（DO）和ρ（COD_Mn）外,其他指标负响应阈值均表现为山区 < 丘陵区 < 平原区,ρ（DO）则表现相反,ρ（COD_Mn）在丘陵区出现最高阈值（5.46 mg/L）、山区出现最低阈值（4.01 mg/L）.除ρ（DO）以外,其他指标的正响应阈值均呈山区 < 丘陵区 < 平原区的趋势,ρ（DO）正响应阈值的变化趋势则与之相反.②松花江流域内超过50%的采样点水质指标值均超过其负响应阈值,超出正响应阈值的采样点比例在6%~40%之间,说明流域受到一定的干扰,但干扰程度不严重.③同一物种在不同地形分区内对水体理化指标的指示方向可能相反.萝卜螺属在丘陵区为ρ（NH₃-N）的正响应指示物种,在平原区则转变为负响应指示物种;短沟蜷属在丘陵区为ρ（TN）和ρ（TP）的正响应物种,在平原区则转变为负响应物种.研究显示,大型底栖动物群落结构的分布特征是影响水质指标阈值指示物种识别的主要原因,而不同分区的自然地理状况、栖境状况和水质状况则是造成大型底栖动物群落结构分布差异的主要因素.