A novel L1CAM mutation with L1 spectrum disorders

X-linked hydrocephalus, HSAS (hydrocephalus due to stenosis of aqueduct of Sylvius), MASA (mental retardation, aphasia, shuffling gait, and adducted thumbs), and CRASH (corpus callosum hypoplasia, retardation, adducted thumbs, spastic paraplegia, and hydrocephalus) syndromes are allelic disorders. X-linked hydrocephalus and associated phenotypes are due to mutations in the L1CAM gene, which has been identified as a coding neural cell adhesion molecule. We report two cases of L1 spectrum disorders within the same family. The first case was diagnosed by ultrasonographic examination prenatally and the second case was diagnosed postnatally. Both patients and their mothers carry a novel mutation of the L1CAM gene. In this family, nine X-linked hydrocephalus and five female carriers were found in three generations, and molecular genetic analysis was performed to detect the asymptomatic carriers. Copyright © 2005 John Wiley & Sons, Ltd.     

Persistence and mobility of 2,4-D in unsaturated soil zone under winter wheat crop in sub-tropical region of India

The present study was undertaken to determine the persistence and mobility of 2,4-dichlorophenoxy acetic acid (2,4-D) in unsaturated soil zone under real field conditions for the wheat crop in Roorkee, India. Three experimental plots were chosen in the agricultural field itself to represent the real field conditions in the study area and the potential movement and persistence of herbicide 2,4-D was investigated under three different irrigation treatments. The presence of herbicide along with soil water content was determined in soil at different depths at a temporal scale. The movement of the herbicide was also simulated numerically by solving the coupled soil water content movement and mass transport equations using HYDRUS-1D. The measured soil water content trends and the 2,4-D concentration profiles showed a good agreement with the numerically simulated results. The maximum effect of the herbicide was primarily retained up to 15 cm of the soil profile. The current existing dosage of 0.5 kg ha⁻¹ of pesticide was found to be safe to avoid soil contamination as no residue of 2,4-D was traced at the end of the wheat crop season in any of the plots. Higher concentrations of 2,4-D were also simulated numerically and the simulated results showed that the safe dosage of pesticide application would depend on irrigation treatments.     

Absorption characteristics of new solvent based on a blend of AMP and 1,8-diamino-p-menthane for CO2 absorption

Aqueous 1,8-diamino-p-menthane (KIER-C3) and commercially available amine solutions were tested for CO₂ absorption. A 2-amino- 2-methyl-1-propanol (AMP) solution with an addition of KIER-C3 showed 9.3% and 31.6% higher absorption rate for CO₂ than the AMP solution with an addition of monoethanolamine (MEA) and ammonia (NH₃), respectively. The reaction rate constant for CO₂ absorption by the AMP/KIER-C3 solution was determined by the following equation: k_2,AMP/C3 = 7.702×10⁶ exp (-2248.03/T). A CO₂ loading ratio of the AMP/KIER-C3 solution was also 2 and 3.4-times higher than that of the AMP/NH3 solution and the AMP/MEA solution, respectively. Based on the experimental results, KIER-C3 may be used as an excellent additive to increase CO₂ absorption capability of AMP.     

兰州市大气中苯并(a)芘与儿童尿中1-羟基芘的分析及风险评价

对兰州市不同区域空气中苯并(a)芘和儿童尿液中1-羟基芘同步采样,分别采用气相色谱-质谱联用法和高效液相色谱法进行检测.结果表明:不同区域苯并(a)芘浓度有显著差别,研究区日均浓度约为对照区日均浓度的两倍.冬季大气中的浓度明显高于夏季,其中研究区冬季均值约为夏季的26.46倍,对照区冬季均值约为夏季的29.41倍.儿童尿中1-羟基芘的浓度与空气中苯并(a)芘的浓度呈一致的变化,冬季研究区儿童尿中1-羟基芘的均值为0.86μmol·(mol肌酐)-1,对照区为0.63μmol·(mol肌酐)-1.冬季研究区儿童的终生超额危险度最高,达到2.32×10-4,接近不可接受水平.     

五羰基铁对正辛硫醇中硫的脱除研究

由于能源化石类燃料中均包含不同含量的硫化物,随着人类对这些能源的不断利用,引发的环境污染等问题日趋严重。利用五羰基铁(Fe(CO)5)分解条件温和可控,产物无杂质,分解后的Fe0可以与硫原子原位键合等特点。文章尝试采用Fe(CO)5作为脱硫剂在温和条件下进行脱除正辛硫醇的研究。实验结果表明:随着压强(101~5 067 kPa)、Fe(CO)5加入量(50~250μL)、时间(1~6 h)和温度(0~180℃)的不同,Fe(CO)5脱硫效率具有明显差异,在此基础上得到最佳脱硫条件及最高脱除效率:常压、Fe(CO)5加入量200μL(1.4 mmol)、t=2h和T=140℃时,达到最高硫容3 450 mg/L。分别采用IR、XPS手段对脱硫反应机理进行了探索。IR结果表明:在1 084 cm-1处为硫氧峰,在797 cm-1归属为铁氧峰。XPS结果表明:167.8 eV处可能为S4+,711.6 eV处可能为Fe3+。因此,正辛硫醇脱除的可能机理为巯基断裂,并在空气中与氧结合,最终形成S4+,而Fe(CO)5的Fe经过脱硫之后,在空气中不稳定,最终被氧化成Fe3+。     

亚硝酸盐型甲烷厌氧氧化微生物特性研究进展

亚硝酸盐型甲烷厌氧氧化(nitrite-dependent anaerobic methane oxidation,N-DAMO)是新近发现的生物反应,是偶联碳氮循环的关键环节,是环境领域和微生物领域的重大发现.N-DAMO的发现对于完善碳氮生物地球化学循环、丰富微生物学内容和研发新型生物脱氮除碳工艺均具有巨大的推动作用.催化N-DAMO反应的微生物为Candidatus Methylomirabilis oxyfera(M.oxyfera),其隶属于一新发现的细菌门——NC10门.近年来,M.oxyfera的生物学研究取得了许多突破性进展,如初步探明了其个体形态特征、细胞化学组分特征、富集培养特征、生理生化特征及生态学特征,最突出的例子包括发现了M.oxyfera独特的细胞(星状)形态及特殊的脂肪酸(10Me C16∶1Δ7)组分等.最近,N-DAMO的机制研究方面也有了突破性进展:发现了地球上第4种生物产氧途径.目前认为,M.oxyfera具有内产氧功能,其首先将NO-2还原为NO,然后将2分子NO进行歧化反应生成N2和O2,最后利用生成的O2对甲烷进行氧化.本文系统地介绍了M.oxyfera各方面的微生物特性.     

基于多源遥感数据的锡尔河中下游农田土壤水分反演

机器学习结合多源遥感数据反演土壤水分含量（SMC）是目前SMC研究的热点,因较少考虑温度、蒸散等重要SMC影响因子,反演结果存在一定的不确定性。利用Sentinel-1影像、MODIS产品和SRTM数据,提取雷达后向散射系数等32个SMC影响因子,经相关分析选择27个显著的SMC影响因子（P<0.05）作为反演因子,并设计三组因子组合。这三组因子组合分别与随机森林、支持向量回归、BP神经网络三种机器学习方法结合,发现基于随机森林结合所有因子的方案,其SMC反演精度最高,该组合均方根误差RMSE为0.039 m³/m³,将该方案被用于反演2017年生长季锡尔河流域中下游平原区农田SMC。结果表明：从上部至下部SMC总体呈逐渐增加的态势,但存在显著时空差异,春季和秋季SMC较高而夏季较低。SMC差异主要由土壤质地、热量条件和地表植被状况差异引起。春季平原区下部农田SMC要高于上部,SMC的主控因子是土壤质地和地表植被状况;在夏季,土壤水分的主控因子是热量条件,农田灌溉弥补了热量条件差异对土壤水分的影响,导致空间上平原上部和下部土壤SMC空间差异不显著;秋季SMC的主控因子植被状况抵消地表温度和土壤质地差异对SMC的影响,使得秋季SMC空间差异不显著。本文采用的研究方法在一定程度上克服了因考虑SMC影响因子不足而获取更高SMC精度的限制。     

鄂尔多斯盆地马家沟组马五_1亚段地层水特征及对CO_2地质封存的意义

CO_2地质封存技术是实现碳减排的有效措施,对鄂尔多斯盆地马家沟组马五_1亚段地层水特征进行研究,是下一步实施工程化CO_2封存的首要前提。本文依据对深部钻井取样的直观观察与实验测试,采用单项指标分类评价和多项指标综合评价的方法深入分析了马家沟组马五_1亚段地层水的物理性质、化学性质、地层水类型和水化学特征参数。结果表明:马家沟组马五_1亚段地层水密度较大、矿化度极高,属于卤水,含量最多的离子是Cl~-,其次是Ca~(2+),地层水是CaCl_2型。钠氯系数、氯镁系数、脱硫系数和镁钙系数的分析表明马五_1亚段地层水封闭性极好,处于较强的还原环境。综合分析认为马家沟组马五_1亚段地层水具备实施CO_2封存的良好条件,非常适宜进行CO_2封存。     

Denaturing high-performance liquid chromatography (DHPLC)-based prenatal diagnosis for tuberous sclerosis

Tuberous sclerosis (TSC) is a frequent autosomal-dominant condition (affecting 1 in 6000 individuals) caused by various mutations in either the hamartin (TSC1) or the tuberin gene (TSC2). This allelic and non-allelic heterogeneity makes genetic counseling and prenatal diagnosis difficult, especially as a significant proportion of TSC cases are due to de novo mutations. For this reason the identification of the disease causing mutation is mandatory for accurate counseling, yet current mutation detection methods such as single-strand conformation polymorphism (SSCP) or denaturing gradient gel electrophoresis (DGGE) are labor intensive with limited detection efficiency. Denaturing high-performance liquid chromatography (DHPLC) is a high-throughput, semi-automated mutation detection system with a reported mutation detection rate close to 100% for PCR fragments of up to 800 bp. We used a recently described DHPLC assay allowing the efficient detection of mutations in TSC1 to analyze the DNA extracted from a chorion villus sample in order to perform a prenatal diagnosis for TSC. The fetus was found not to have inherited the deleterious mutation and the DHPLC diagnosis was confirmed by haplotype analysis. This represents the first DHPLC-based prenatal diagnosis of a genetic disease. Copyright © 2001 John Wiley & Sons, Ltd.     

Design training and aesthetic evaluation: An intergroup comparison

A number of studies have observed differences in the evaluation of visual, aesthetic stimuli between those with and without professional training in art and design. If exposure to design training underlies such differences it follows that evidence of training effects should be observable when comparing subjects at different stages of design training, and not observable when comparing subjects at different stages of non-design training. In addition, this evidence should be consistent with directional predictions. The study reported in this paper investigated this question using a sample of 192 trained and untrained subjects in an evaluative task. Subjects were from two departments (Design and Computer Studies) of the same educational establishment and comprised balanced groups of lecturers, 1st, 2nd and 3rd year undergraduate students. The results obtained demonstrated evaluative differences and patterns of association both within and between the subject groups consistent with a training hypothesis.