Prenatal diagnosis of primary anophthalmia with a 3q27 interstitial deletion involving SOX2

We report an interstitial deletion of chromosome 3q26-q28 in a fetus in which anophthalmia had been detected prenatally. FISH analysis, using BAC clones encompassing the SOX2 locus, showed that SOX2 gene was involved in the chromosomal breakpoint of the deletion. This case confirms that haploinsufficiency for SOX2 plays a crucial role in human eye development and emphasizes the necessity of careful chromosomal analysis, including FISH analysis of the 3q region, in case of prenatal discovery of anophthalmia. Copyright © 2004 John Wiley & Sons, Ltd.     

Trisomy 2 due to a 3:1 segregation in an abortion studied by QF-PCR and CGH

Balanced reciprocal translocation is one of the known causes of recurrent spontaneous abortions. Cytogenetic studies of unbalanced miscarriages are difficult due to the growth failure of early loss and usually macerated abortions. We present a molecular study of an abortion in which the father carries a balanced reciprocal translocation t(2;17)(q32.1;q24.3) using QF-PCR and CGH techniques. DNA analysis showed the presence of a trisomy 2 due to a 3:1 interchange segregation. Recombinant events could also be investigated by comparing DNA samples from the family. We propose QF-PCR in addition to CGH as an efficient diagnostic method to improve our knowledge of unbalanced offspring in balanced translocation carriers. Copyright © 2005 John Wiley & Sons, Ltd.     

Characteristics and recent trends of sulfur dioxide at urban, rural, and background sites in North China: Effectiveness of control measures

SO₂ measurements made in recent years at sites in Beijing and its surrounding areas are performed to study the variations and trends of surface SO₂ at different types of sites in Northern China. The overall average concentrations of SO₂ are (16.8 ± 13.1) ppb, (14.8 ± 9.4) ppb, and (7.5 ± 4.0) ppb at China Meteorological Administration (CMA, Beijing urban area), Gucheng (GCH, relatively polluted rural area, 110 km to the southwest of Beijing urban area), and Shangdianzi (SDZ, clean background area, 100 km to the northeast of Beijing urban area), respectively. The SO₂ levels in winter (heating season) are 4-6 folds higher than those in summer. There are highly significant correlations among the daily means of SO₂ at different sites, indicating regional characteristics of SO₂ pollution. Diurnal patterns of surface SO₂ at all sites have a common feature with a daytime peak, which is probably caused by the downward mixing and/or the advection transport of SO₂-richer air over the North China Plain. The concentrations of SO₂ at CMA and GCH show highly significant downward trends (-4.4 ppb/yr for CMA and -2.4 ppb/yr for GCH), while a less significant trend (-0.3 ppb/yr) is identified in the data from SDZ, reflecting the character of SDZ as a regional atmospheric background site in North China. The SO₂ concentrations of all three sites show a significant decrease from period before to after the control measures for the 2008 Olympic Games, suggesting that the SO₂ pollution control has long-term effectiveness and benefits. In the post-Olympics period, the mean concentrations of SO₂ at CMA, GCH, and SDZ are (14.3 ± 11.0) ppb, (12.1 ± 7.7) ppb, and (7.5 ± 4.0) ppb, respectively, with reductions of 26%, 36%, and 13%, respectively, compared to the levels before. Detailed analysis shows that the differences of temperature, relative humidity, wind speed, and wind direction were not the dominant factors for the significant differences of SO₂ between the pre-Olympics and post-Olympics periods. By extracting the data being more representative of local or regional characteristics, a reduction of up to 40% for SO₂ in polluted areas and a reduction of 20% for regional SO₂ are obtained for the effect of control measures implemented for the Olympic Games.     

Measurement of air exchange rates in different indoor environments using continuous CO2 sensors

A new air exchange rate (AER) monitoring method using continuous CO₂ sensors was developed and validated through both laboratory experiments and field studies. Controlled laboratory simulation tests were conducted in a 1-m³ environmental chamber at different AERs (0.1-10.0 hr^-1). AERs were determined using the decay method based on box model assumptions. Field tests were conducted in classrooms, dormitories, meeting rooms and apartments during 2-5 weekdays using CO₂ sensors coupled with data loggers. Indoor temperature, relative humidity (RH), and CO₂ concentrations were continuously monitored while outdoor parameters combined with on-site climate conditions were recorded. Statistical results indicated that good laboratory performance was achieved: duplicate precision was within 10%, and the measured AERs were 90%-120% of the real AERs. Average AERs were 1.22, 1.37, 1.10, 1.91 and 0.73 hr^-1 in dormitories, air-conditioned classrooms, classrooms with an air circulation cooling system, reading rooms, and meeting rooms, respectively. In an elderly particulate matter exposure study, all the homes had AER values ranging from 0.29 to 3.46 hr??1 in fall, and 0.12 to 1.39 hr^-1 in winter with a median AER of 1.15.     

Synthesis of TiO2 nanoparticles in different thermal conditions and modeling its photocatalytic activity with artificial neural network

Titanium dioxide (TiO₂) nanoparticles were prepared by sol gel route. The preparation parameters were optimized in the removal of 4-nitrophenol (4-NP). All catalysts were analyzed by X-ray diffraction (XRD) and scanning electron microscopy (SEM). An artificial neural network model (ANN) was developed to predict the photocatalytic removal of 4-NP in the presence of TiO₂ nanoparticles prepared under desired conditions. The comparison between the predicted results by designed ANN model and the experimental data proved that modeling of the removal process of 4-NP using artificial neural network was a precise method to predict the extent of 4-NP removal under different conditions.     

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.     

Transverse approach between real world concentrations of SO2, NO2, BTEX, aldehyde emissions and corrosion in the Grand Mare tunnel

With regard to automotive traffic, a tunnel-type semi enclosed atmosphere is characterized by a higher concentration of gaseous pollutants than on urban traffic roads and highlights the gaseous effluent species having an impact on material degradation. Therefore, a transverse approach between air quality and its consequences upon the longevity of materials is necessary, implying better knowledge of tunnel atmosphere and a better understanding of material degradation inside a tunnel for operating administration. Gaseous pollutant measurements carried out in a road tunnel in Rouen (Normandy) give the real world traffic concentrations of experimental exposure conditions. The sampling campaigns, achieved in summer and winter include SO₂, NO₂, BTEX and aldehyde analyses. Effluent profiles in the upward and downward tubes have been established. The current work shows that SO₂, NO₂, formaldehyde, acetaldehyde, propanal and butanal must be considered in the degradation process of materials in a stuffy environment. As regards NO₂, its concentration depends on the modification of the automotive fleet. The total aldehyde concentrations indicate no particular trend between the two bores. Formaldehyde, acetaldehyde, propanal, butanal and acrolein species are the most abundant species emitted by vehicles and represent 90% to 95% of the total aldehyde emissions.     

Effect of CeO2 and Al2O3 on the activity of Pd/Co_3O_4/cordierite catalyst in the three-way catalysis reactions (CO/NO/CnHm)

The present article studies the effect of CeO₂ and Al₂O₃ on the activity of Pd/Co₃O₄/cordierite catalyst in conversion of NO, CO, C_nH_m. The catalysts were characterized by temperature programmed reduction with hydrogen, X-ray diffraction, X-ray photoelectron spectroscopy and transmission electron microscopy. It is shown that the effect of CeO₂ on the properties of Pd/Co₃O₄/cordierite catalyst depends on preparation method. The catalyst obtained by co-deposition of cerium and cobalt oxides has higher activity in CO oxidation (CO + O₂ and CO + NO) and total hexane oxidation (C₆H₁₄ + O₂). Such phenomenon is probably caused by more than stoichiometric amount of formed oxygen vacancies, an increase in both mobility of surface oxygen and dispersity of components in the catalytic composition. It is demonstrated that CeO₂ addition promotes the SO₂ resistance of Pd/Co₃O₄/cordierite. The second support decreases the activity of Pd/Co₃O₄/cordierite catalyst in the reactions of CO and C₆H₁₄ with oxygen because of CoAl₂O₄ formation.