Syndromic encephalocele in a fetal case with a 1p35-pter deletion and a 14q32-qter duplication inherited from a maternal balanced translocation

Occipital encephalocele belongs to the family of neural tube defects, which occur in one among 2000 to 5000 live births. Syndromic encephaloceles include Meckel–Gruber syndrome and various chromosomal abnormalities. We report on a fetal case (13 WG) with bilateral cleft lip and palate, choanal atresia, occipital encephalocele, bilateral club feet, bilateral multicystic kidneys, enlarged bladder and urethral atresia. The fetal chromosome analysis showed a maternally inherited unbalanced translocation between the short arm of chromosome 1 and the long arm of chromosome 14, resulting in 1p35-pter deletion and 14q32-qter duplication (46,XY,der(1),t(1;14)(p35;q32)). Since the chromosomal breakpoints have not previously been implicated in syndromic encephalocele, this observation is of interest for the identification of other genes responsible for occipital encephalocele. Copyright © 2007 John Wiley & Sons, Ltd.     

Prenatal diagnosis of charcot-marie-tooth disease type 1a (CMT1A) using molecular genetic techniques

Charcot-Marie-Tooth disease type 1A (CMT1A) is a frequent hereditary motor and sensory neuropathy of the peripheral nerves. In most cases, the disease is associated with a 1.5 Mb tandem duplication at 17p11.2. A 42-year-old pregnant woman requested prenatal diagnosis because of her age and since both her husband and two children were severely affected with CMT1. The CMT1A duplication was demonstrated in the father's, the two children's, and the fetus's DNA using different molecular genetic methods. Although cytogenetical analysis showed a normal female karyotype in the fetus, the parents decided to terminate the pregnancy because of the genetic risk associated with the CMT1A duplication.     

Prenatal diagnosis of an isochromosome 5p in a fetus with increased nuchal translucency thickness and pulmonary atresia with hypoplastic right heart at 14 weeks

We report on a fetus presenting with increased nuchal translucency at 11 weeks' gestation, suggesting cystic hygroma. Chorion villous sampling was performed, and cytogenetic analysis revealed a supernumerary isochromosome 5p leading to tetrasomy 5p: 47,XX,+ i(5p)[7]/46,XX[5] after short-term culture and 47,XX,+ i(5p)[20] after long-term culture. Subsequent targeted sonographic follow-up at 12 and 14 weeks revealed further increase of the NT to 6.4 mm and the additional presence of a congenital heart defect (pulmonary atresia with intact ventricular septum). Termination of pregnancy was performed, and the heart defect was confirmed. Isochromosome 5p was found in varying proportions in all examined organs. Only a few cases of mosaic tetrasomy 5p have been reported in the literature, and recent reports on prenatally detected isochromosome 5p showed a possible relationship to increased nuchal translucency in some cases and also a possible role of confined mosaicism in others. Whereas cases with confined mosaicism did not show suspicious signs on ultrasound, true mosaicism conversely showed increased nuchal thickness as well as structural abnormalities. This is the first report on the association of a cardiac defect with this chromosome aberration. Copyright © 2004 John Wiley & Sons, Ltd.     

Improvement of antifouling characteristics in a bioreactor of polypropylene microporous membrane by the adsorption of Tween 20

Surface modification by physical adsorption of Tween 20 was accomplished on polypropylene microporous membranes(PPMMs). Attenuated total reflection-Fourier transform infrared spectroscopy(ATR/FT-IR)and field emission scanning electron microscope(FE- SEM)were used to characterize the chemical and morphological changes on the membrane surfaces.Water contact angles and relative pure water fluxes were measured.The data showed that the hydrophilic performance for the modified membranes increased with the increase in the adsorption amount of Tween 20 onto the surface or into the pores of polypropylene microporous membranes.To test the antifouling property of the membranes by the adsorption of Tween 20 in a membrane bioreactor(MBR),filtration for active sludge was performed using synthetic wastewater.With the help of the data of water fluxes and the FE-SEM photos of the modified PPMMs before or after operating in a MBR for about 12 d,the PPMMs with monolayer adsorption of Tween 20 showed higher remained flux and stronger antifouling ability than unmodified membrane and other modification membranes studied.     

Influence of different ignition delay times on the pressure rise rate in hybrid mixture explosions in the 20-L sphere

For the development of a standardized method for measuring the explosion safety characteristics of combustible hybrid dust/vapor mixtures, the influence of the ignition delay time needs to be investigated. The ignition delay time, defined as the time between the injection of dust and the activation of the ignition source, is related to the turbulence of the mixture and thus to the pressure rise rate. The ignition source for pure vapors, however, has to be activated in a quiescent atmosphere according to the standards. Nevertheless, when measuring the explosion safety characteristics of hybrid mixtures, it is important that the dust be in suspension around the igniter. Like pure dust/air mixtures, hybrid dust/vapor/air mixtures need to be ignited in a turbulent atmosphere to keep the dust in suspension.This work will therefore investigate the influence of ignition delay times on the severity of hybrid explosions. It was generally found that at shorter ignition delay times, (dp/dt)_ex increased due to higher turbulence and decreases as the dust sinks to the bottom of the 20 L-sphere. This effect is more pronounced for hybrid mixtures with higher vapor content compared to dust content.     

准组织化:“互联网+线上应急救援”的实践路径和现实困境*—以河南郑州“7·20”特大暴雨灾害事件为例

为响应我国应急管理现代化和信息化建设需要,采用参与式观察、网络民族志和深度访谈方法,从准组织化集体行动视角切入,对河南郑州“7·20”特大暴雨灾害事件中救援模式相对成熟的“互联网+线上应急救援”实践路径和现实困境进行探讨。研究结果表明:线上应急救援实践路径涵盖聚合、运转、高效、离散4个阶段,且以持续不断的行动流呈现,具有准组织化集体行动特征;同时,线上救援形式面临“合法性”不确定、救援质量不稳定、风险评估主观性和政府正式沟通渠道有限性等现实困境,研究结果可为我国应急管理信息化建设提供参考。     

UV/H2O2降解水中硝基酚及影响因素

UV H2 O2 氧化对硝基酚实验表明 ,H2 O2 光解产生·OH自由基是对硝基酚降解的直接原因 ,12min内 2 5mg L的对硝基酚去除率达到98%以上。溶液中TOC变化与对硝基酚的去除并不同步 ,说明对硝基酚的降解中生成了一系列的中间产物 ,然后再达到完全矿化的。体系中H2 O2 浓度变化显示产生的中间产物对H2 O2 光解没有明显影响。研究中还对对硝基酚起始质量浓度、H2 O2 浓度及pH影响进行了考察。研究认为UV H2 O2 是对硝基酚脱毒的一种有效方法     

Temporal variability in atmospheric Hg released from natural and anthropogenic sources in central Taiwan

From September 2011 to February 2012, ambient air particulate and particulate-bound mercury [Hg(p)] concentrations were measured, together with dry deposition using a cold vapor atomic fluorescence spectrometry (CVAFS) analyser, at two characteristic sampling sites in central Taiwan. Results from the sampling site at Westin Park indicated that the lowest particulate dry deposition and lowest average particulate concentrations in total suspended particles (TSP) occurred in September (29.70±7.47 μ g m^?2×min) and February (34.38±13.60 ng m^?3), respectively. Moreover, results from the Gung-Ming junior high school (airport) site, showed that the highest average particulate dry deposition and average highest particulate concentrations in TSP occurred in February (156.76±30.36 μ g m^?2×min) and January (125.49±9.51 ng m^?3), respectively, during the winter. The Dragon Steel Plant and Han-Shian Aerospace Industrial Development Corporation were both nearby. These factors led to the high Hg(p) concentrations at Taichung Airport (TA) compared with Westin Park. Local large suspended particulates from heavy traffic were the main reason for the high average Hg(p) deposition at Westin Park compared with TA in this study.     

Effects of a phycotoxin,okadaic acid,on oyster heart cell survival

Okadaic acid (OA) is a dinoflagellate toxin which accumulates in shellfish producing diarrhetic shellfish poisoning (DSP) in humans. It was found that OA is a highly selective inhibitor of protein phosphatase types 1 (PP1) and 2A (PP2A) which produces a marked increase in phosphorylation of several proteins, including p38 mitogen-activated protein (MAP) kinase. The cytotoxicity attributed to OA and the effects on p38 MAP kinase and calcium current were examined in the oyster Crassostrea gigas in this study. Data showed that p38 MAP kinase is strongly expressed in oyster heart and that OA bioaccumulated in cultured heart cells. Hence the effects of OA was tested in vitro and in vivo on oysters. OA was found to (i) exert a positive chronotropic effect on cultured atrial cardiomyocytes which is related to an increase in calcium current via PKC as shown by patch clamp measurements, (ii) produce an activation/phosphorylation of MAP kinase as shown by Westernblot while the non-phosphorylated p38 remained constant during treatment, (iii) did not induce a pro-apoptotic effect. Data suggest that OA may also stimulate the anti-apoptotic pathway by phosphatase inhibition.