Duplication of chromosome 2 in association with ventriculomegaly — a case report

This is a case report of the prenatal diagnosis of a de novo interstitial duplication of chromosome 2 (46,XX,dup(2)(p13p21) de novo) with an associated phenotypic abnormality. This chromosomal duplication is rare, only one has previously been described prenatally. Postnatal reports of similar duplications in this region have described associated dysmorphic features and significant neurodevelopmental delay. In our case, the only ultrasound finding was moderately severe ventriculomegaly. At post-mortem, ventriculomegaly was confirmed and there was associated macrocephaly (head circumference above the 97th centile) with no dysmorphic features seen. Copyright © 2001 John Wiley & Sons, Ltd.     

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.     

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.     

Non-cooperative and cooperative climate policies with anticipated breakthrough technology

Global warming can be curbed by pricing carbon emissions and thus substituting fossil fuel with renewable energy consumption. Breakthrough technologies (e.g., fusion energy) can reduce the cost of such policies. However, the chance of such a technology coming to market depends on investment. We model breakthroughs as an irreversible tipping point in a multi-country world, with different degrees of international cooperation. We show that international spill-over effects of R&D in carbon-free technologies lead to double free-riding, strategic over-pollution and underinvestment in green R&D, thus making climate change mitigation more difficult. We also show how the demand structure determines whether carbon pricing and R&D policies are substitutes or complements.     

Toxic effects of realgar transforming solution on the reproduction of Caenorhabditis elegans

Realgar transforming solution is an arsenic formulation which has shown anticancer effects with low toxicity both in vivo and in vitro. In this study, Caenorhabditis elegans was used to evaluate its reproductive toxicity and its possible mechanisms. Realgar transforming solution decreased the brood size and induced proliferation arrest and apoptosis significantly only at an elemental concentration of 37.5 mg/L, while arsenic trioxide reduced the brood sizes and induced proliferation arrest and apoptosis of both the wild type N2 and let-60 ras(gf) mutant worms in an arsenic concentration dependent manner. Mitogen-activated protein kinase and protein p53 pathways may be involved in reproductive toxicity as evidenced by real-time quantitative polymerase chain reaction, RNA interference, and inhibition experiments with mitogen-activated protein kinases and p53. In conclusion, realgar transforming solution at the low arsenic (As) concentrations showed lower reproductive toxicity than arsenic trioxide, and a different molecular mechanism of reproductive toxicity is suggested.