Trisomy 15 mosaicism owing to familial reciprocal translocation t(1;15): implication for prenatal diagnosis

We describe a 4-year-old female child with severe global mental retardation, myoclonic epilepsy, proximal hypotonia and dysmorphisms, whose prenatal diagnosis following amniocentesis revealed a constitutional female karyotype carrying a t(1;15)(q10;p11) familial reciprocal translocation. Post-natal high-resolution karyotype, Fluorescence in situ hybridization (FISH) screening for subtelomeric rearrangements, VNTR search for UPD15 in the blood and fibroblast, and WCP1 and 15 in the mother, failed to provide an explanation for the complex clinical phenotype of the proband. Since the pachytene configuration of the translocated chromosomes defines a high probability of 3:1 segregation, an extensive workup was undertaken to look for a possibly cryptic mosaicism. Four percent of the cells with trisomy 15 was found in the peripheral blood lymphocytes examined by classical cytogenetic technique and interphase FISH analysis. The clinical features associated with cryptic trisomy 15 mosaicism and the problems concerning prenatal diagnosis and genetic counselling for carriers of translocations at high risk of 3:1 segregation are discussed. Copyright © 2006 John Wiley & Sons, Ltd.     

Familial marker chromosome due to 3:1 Disjunction of t(9;15) in a grandparent

An extra small chromosome detected in amniotic fluid was identified as the product of a translocation [46,XX,t(9;15)(p24;q11.2)]. This case is unusual in that individuals with the unbalanced karyotype resulting from a 3:1 disjunction are phenotypically normal.     

Prenatal foetal diagnosis of partial trisomy 3q and monosomy 13p due to a maternal balanced rearrangement

The authors describe a case of a male foetus whose ultrasound at 20 weeks' gestation revealed cystic hygroma, cleft lip and ventricular septal defect. Amniotic fluid cytogenetics using GTG banding showed a 46,XY,der(13)t(3;13)(q12;p11.1) rearrangement, and fluorescence in situ hybridization (FISH) delineated the relevant breakpoints. Familial studies identified a maternal balanced translocation involving chromosomes 3 and 13. The post-mortem examination confirmed the prenatal ultrasound findings. Copyright © 2005 John Wiley & Sons, Ltd.     

Chemical forms of cobalt and nickel extracted by M1,M3 and CaCl_2-DTPA

ＣｈｅｍｉｃａｌｆｏｒｍｓｏｆｃｏｂａｌｔａｎｄｎｉｃｋｅｌｅｘｔｒａｃｔｅｄｂｙＭ１，Ｍ３ａｎｄＣａＣｌ２ＤＴＰＡＷｅｎＢｅｉ，ＱｉａｎＪｉｎ，ＣｈｅｎＢｉｎ，ＳｈａｎＸｉａｏｑｕａｎＲｅｓｅａｒｃｈＣｅｎｔｅｒｆｏｒＥｃｏＥｎｖｉｒｏｎ...     

嗜吡啶红球菌GF3降解1-氨基蒽醌-2-磺酸的特性

从受溴氨酸污染的泥土中分离出1株蒽醌染料中间体1-氨基蒽醌-2-磺酸(简称ASA-2)降解菌株GF3.经形态学观察和16S r DNA序列分析,鉴定该菌株为嗜吡啶红球菌.研究了该菌对ASA-2脱色的特性,并利用液相-质谱联用仪初步分析了ASA-2降解终产物.研究结果表明,外加蛋白胨、酵母膏和水解酪蛋白均能促进ASA-2的生物脱色,其中蛋白胨促进作用最为明显.进一步的研究发现多种氨基酸可加速ASA-2的生物脱色过程,其中L-亮氨酸促进效果最好.ASA-2脱色的最适环境条件为p H 8.0、30℃和150 r·min~(-1).最适条件下,菌株GF3可使108 mg·L-1的ASA-2在30 h内脱色率达95%以上,TOC去除率为62%.紫外-可见波谱显示,当ASA-2水溶液由红色褪成无色时,ASA-2的特征吸收峰完全消失,并在340 nm产生了新峰.进一步分析发现,ASA-2降解终产物质荷比为260,初步推测产物为3-氨基-4-磺酸基邻苯二甲酸.此外,菌株GF3还可以降解溴氨酸、蒽醌-2-磺酸钠和蒽醌-2-羧酸.     

菌株Cupriavidus sp. DT-1对液体和土壤中TCP的降解

采用液质联用（HPLC-MS）的方法检测菌株Cupriavidus sp.DT-1降解2-羟基吡啶（2-HP）的代谢产物.并用三亲结合、荧光定量PCR （q-PCR）方法评价降解菌对3,5,6-三氯-2-吡啶酚（TCP）污染土壤的修复效果.结果表明,菌株可以进一步降解2-HP,依次生成尼古丁蓝、马来酰胺酸和反丁烯二酸,直至转化成菌株DT-1生长的碳源.接种菌株DT-1对污染土壤中TCP的降解起到较大的促进作用,2组试验土壤中TCP （50mg/kg）降解率分别为94.4%和86.7%,未接种菌株的土壤中TCP降解率仅为20.4%和28.4%.带有绿色荧光蛋白基因gfp标记的菌株DT-1-gfp可在土壤中存活35d以上,并对TCP污染土壤的细菌群落丰度有显著的恢复作用.     

“三合一”建筑场所成因及火灾隐患整治对策

＂三合一＂建筑场所的形成有一定历史背景,与我国经济社会发展有密不可分的联系,历次惨痛火灾教训,让人们对该类建筑场所危害性有了更为深刻的认识,面对严峻的火灾形势,短时间内根治＂三合一＂建筑场所火灾隐患显得极为困难。因此,如何应急解决现有＂三合一＂建筑场所火灾隐患,并从长远角度防止出现新的＂三合一＂建筑场所,是实现当前社会稳定、经济健康、稳定、和谐发展目标的重要课题。本文着力在分析＂三合一＂建筑场所成因、短期应急措施、长期有效管理,以及如何走出当前消防工作误区等方面提出了对策和意见。     

稀盐酸溶液吸收—气相色谱法测定环境空气中的痕量三乙胺

以稀盐酸为吸收液，用气相色谱法测定环境空气中痕量三乙胺，结果表明0．1mol／LHCL和0．2mol／LHCL是环境空气中痕量三乙胺的有效吸收液，吸收后样品稳定性良好。在优化的色谱条件下，气相色谱直接进样，FID检测器测定吸收液中的三乙胺线性好、操作简便、精密度高、检出限低，回收率符合要求。     

CeO_2/Fe_2O_3对高浓度苯酚废水微波诱导的氧化催化

对高浓度苯酚废水提出了用复合催化剂CeO2/Fe2O3进行微波诱导催化氧化的降解方法,并与单一催化剂Fe2O3的催化氧化效果进行了比较,对两者的表观反应动力学进行了分析,结果表明复合催化剂的催化效果比单一催化剂的催化效果高15%以上,其主要原因是CeO2/Fe2O3复合物具有很强的催化能力和较高的干电流变活性,有利于电子的迁移和羟基自由基·OH的形成,从而有利于苯酚的氧化降解。     

Observations of N2O5 and NO3 at a suburban environment in Yangtze river delta in China: Estimating heterogeneous N2O5 uptake coefficients

The nitrate radical(NO₃) and dinitrogen pentoxide(N_2.5) play an important role in the nocturnal atmosphere chemistry.Observations of N03 radicals and N₂ O₅ were performed in a semirural ground site at Tai’Zhou in polluted southern China using cavity ring down spectroscopy(CRDS) from 23 May to 15 June 2018.The observed N03 and N₂ O₅ concentrations were relatively low,with 1 min average value of 4.4±2.2 and 26.0±35.7 pptV,respective...     

福建茫荡山地区春季大气O3、HONO、HCHO、H2O2对 ·OH的贡献率研究

2009年春季在福建南平市茫荡山地区进行观测,测量了.OH源O3、HONO、HCHO和H2O2的浓度.结果表明O3、HCHO、HONO、H2O2浓度分别为4.96×10-8、3.97×10-10、2.53×10-10、1.18×10-10,低于华北农村的浓度.利用CMAQ计算O3、HCHO、HONO、H2O2对.OH的贡献率,分别为57.0%、7.7%、34.9%、0.4%.O3光解是该地区最重要的.OH来源.O3、HCHO、H2O2对.OH的贡献呈现单峰变化,在12:00～13:00达到峰值.HONO对.OH的贡献曲线呈波动状,和人类居住环境清晨出现峰值的情况不同.     

复合光合细菌对鱼塘水氨态氮H2S的去除效应

采用厌氧光照富集法培养光能有机异养型光合细菌A液和光能无机自养型光合细菌B液,将A液和B液配合成复合光合细菌,将其投放到鱼塘水中,结果表明按2%投放复合光合细菌对鱼塘水净化效果最佳,其中对NH3—N去除率88.89%;对H2S去除率91.67%。     

Rat cardiomyocyte H9c2(2-1)-based sulforhodamine B assay as a promising in vitro method to assess the biological component of effluent toxicity

The treatment of wastewaters is crucial to maintain the ecological status of receiving waters, and thereby guarantee the protection of aquatic life and human health. Wastewater quality evaluation is conventionally based on physicochemical parameters, but increasing attention has been paid to integrate physicochemical and biological data. Nevertheless, the regulatory use of fish in biological testing methods has been subject to various ethical and cost concerns, and in vitro cell-based assays have thus become an important topic of interest. Hence, the present study intends: (a) to evaluate the efficiency of two different sample pre-concentration techniques (lyophilisation and solid phase extraction) to assess the toxicity of municipal effluents on rat cardiomyoblast H9c2(2-1) cells, and (b) maximizing the use of the effluent sample collected, to estimate the environmental condition of the receiving environment. The gathered results demonstrate that the H9c2(2-1) sulforhodamine B-based assay is an appropriate in vitro method to assess biological effluent toxicity, and the best results were attained by lyophilising the sample as pre-treatment. Due to its response, the H9c2(2-1) cell line might be a possible alternative in vitro model for fish lethal testing to assess the toxicity of municipal effluents. The physicochemical status of the sample suggests a high potential for eutrophication, and iron exceeded the permissible level for wastewater discharge, possibly due to the addition of ferric chloride for wastewater treatment. In general, the levels of carbamazepine and sulfamethoxazole are higher than those reported for other countries, and both surpassed the aquatic protective values for long-term exposure.     

CdI42-·Fe(phen)32+离子对1,2-二氯乙烷萃取光度法测定水中痕量镉的研究

研究萃取光度法测定痕量Cd的最佳实验条件,结果表明,λ_max=512nm,ε=2.42×10⁶L·mol^-1·cm^-1,相对标准偏差为2.6%(自来水)和3.1%(河水).水样中Cd的含量在0-1μg/25ml范围内服从比尔定律。应用于自来水及河水中Cd的测定,结果令人满意。     

纳米Al2O3经气道滴注致小鼠脏器损伤和炎症反应的研究

为探讨纳米氧化铝(nAl_2O_3)气道滴注对小鼠脏器的毒性作用,本研究将Balb/c小鼠随机分成6组:生理盐水组、50 mg·kg~(-1)·d~(-1) Vit E(维生素E)组、0.5 mg·kg~(-1)·d~(-1) nAl_2O_3组、5 mg·kg~(-1)·d~(-1) nAl_2O_3组、50 mg·kg~(-1)·d~(-1) nAl_2O_3组、nAl_2O_3 50+Vit E组(50 mg·kg~(-1)·d~(-1) nAl_2O_3+50 mg·kg~(-1)·d~(-1)Vit E).实验周期为21 d,气道滴注暴露,隔天滴注,维生素E灌胃阻断.染毒结束后,检测肺部、脾脏、肝脏和肾脏中活性氧(Reactive Oxide Species,ROS)和还原型谷胱甘肽(Glutathione,GSH)含量,并进行肺部病理学观察和肺泡灌洗液细胞计数.结果表明:与对照组相比,nAl_2O_3剂量为0.5 mg·kg~(-1)·d~(-1)时,小鼠肺部ROS含量增加(p0.05),肝脏GSH含量下降(p0.05);nAl_2O_3剂量为5和50 mg·kg~(-1)·d~(-1)时,小鼠肺部、脾脏、肝脏和肾脏ROS含量均显著增加(p0.05),肺部和肝脏GSH含量均显著下降(p0.05);且小鼠肺部出现支气管壁增厚、气道腔皱缩、组织纤维化等气道重塑和嗜酸性粒细胞等炎症细胞浸润现象.而抗氧化剂维生素E的阻断显著降低了肝脏ROS含量,有效恢复了肺部GSH活性(p0.01),且缓解了肺部气道重塑和炎症细胞浸润现象(p0.05).研究表明,nAl_2O_3经气道滴注染毒后,不仅会对小鼠肺部造成损伤和炎症反应,同时也能够对脾脏、肝脏和肾脏造成氧化损伤.本研究可为纳米材料的安全性应用及其潜在危害的预防提供科学依据.     

环形扩散管法测定北京市大气中HNO3和HNO2的条件优化与应用研究

为研究北京市大气中HNO₃和HNO₂的污染特征,进行了环形扩散管法涂层溶液最佳浓度确定条件优化试验,并于2014年秋季在北京市开展了应用研究。结果表明:环形扩散管中Na₂CO₃涂层溶液的浓度为2%时,大气中酸性气体的去除率达到90%以上;利用优化的环形扩散管方法对北京市城区大气中的HNO₃和HNO₂浓度进行了测定,观测期间大气中HNO₃和HNO₂的浓度分别为0.77~3.23和1.12~5.51 μg/m ³,平均值分别为2.33和2.96 μg/m ³。研究区大气中HNO₂浓度高于HNO₃,一方面可能由于采样期间光照较弱,HNO₂光解能力降低,另一方面可能由于采样点位于交通干道附近,来自汽车尾气排放的NO_x发生均相和非均相反应。大气中HNO₃浓度在雾霾天时最高,其次为晴天;HNO₂浓度也是雾霾天最高,且远高于晴天。     

Fabrication of Bi2O3/TiO2 nanocomposites and their applications to the degradation of pollutants in air and water under visible-light

A nanoheterojunction composite photocatalyst Bi2O3/TiO2working under visible-light(λ 420 nm) was prepared by combining two semiconductors Bi2O3 and TiO2 varying the Bi2O3/TiO2molar ratio. Maleic acid was employed as an organic binder to unite Bi2O3 and TiO2 nanoparticles. The SEM, TEM, XRD and diffuse reflectance spectra were utilized to characterize the prepared Bi2O3/TiO2nanoheterojunction. The nanocomposite exhibited unusual high photocatalytic activity in decomposing 2-propanol in gas phase and phenol in aqueous phase and, evolution of CO2 under visible light irradiation while the end members exhibited low photocatalytic activity. The composite was optimized to 5 mol% Bi2O3/TiO2. The remarkable high photocatalytic efficiency originates from the unique relative energy band position of Bi2O3 and TiO2 as well as the absorption of visible light by Bi2O3.