A rare case of de novo distal 19q trisomy prenatally diagnosed

We present a case of de novo trisomy of distal 19q diagnosed prenatally by cytogenetics and FISH analysis. The autopsy performed after termination of the pregnancy showed major internal and external malformations that are associated with this chromosome abnormality. Copyright © 2004 John Wiley & Sons, Ltd.     

Mechanistic insights into the specificity of human cytosolic sulfotransferase 2A1 (hSULT2A1) for hydroxylated polychlorinated biphenyls through the use of fluoro-tagged probes

Determining the relationships between the structures of substrates and inhibitors and their interactions with drug-metabolizing enzymes is of prime importance in predicting the toxic potential of new and legacy xenobiotics. Traditionally, quantitative structure activity relationship (QSAR) studies are performed with many distinct compounds. Based on the chemical properties of the tested compounds, complex relationships can be established so that models can be developed to predict toxicity of novel compounds. In this study, the use of fluorinated analogues as supplemental QSAR compounds was investigated. Substituting fluorine induces changes in electronic and steric properties of the substrate without substantially changing the chemical backbone of the substrate. In vitro assays were performed using purified human cytosolic sulfotransferase hSULT2A1 as a model enzyme. A mono-hydroxylated polychlorinated biphenyl (4-OH PCB 14) and its four possible mono-fluoro analogues were used as test compounds. Remarkable similarities were found between this approach and previously published QSAR studies for hSULT2A1. Both studies implicate the importance of dipole moment and dihedral angle as being important to PCB structure in respect to being substrates for hSULT2A1. We conclude that mono-fluorinated analogues of a target substrate can be a useful tool to study the structure activity relationships for enzyme specificity.     

Circumpolar status of Arctic ptarmigan: Population dynamics and trends

Rock ptarmigan (Lagopus muta) and willow ptarmigan (L. lagopus) are Arctic birds with a circumpolar distribution but there is limited knowledge about their status and trends across their circumpolar distribution. Here, we compiled information from 90 ptarmigan study sites from 7 Arctic countries, where almost half of the sites are still monitored. Rock ptarmigan showed an overall negative trend on Iceland and Greenland, while Svalbard and Newfoundland had positive trends, and no significant trends in Alaska. For willow ptarmigan, there was a negative trend in mid-Sweden and eastern Russia, while northern Fennoscandia, North America and Newfoundland had no significant trends. Both species displayed some periods with population cycles (short 3–6 years and long 9–12 years), but cyclicity changed through time for both species. We propose that simple, cost-efficient systematic surveys that capture the main feature of ptarmigan population dynamics can form the basis for citizen science efforts in order to fill knowledge gaps for the many regions that lack systematic ptarmigan monitoring programs.

     

Solubilities of selected organic electronic materials in pressurized hot water and estimations of aqueous solubilities at 298.15 K

Increasing production and disposal of organic light-emitting diode (OLED) displays for smartphones and tablets may have impact on the environment depending on the aqueous solubility of the pertinent chemicals. Here, aqueous solubilities are presented for several compounds, mostly aromatic amines, used as hole transport materials in the OLED displays. Solute selection includes 1,4-bis(diphenylamino)benzene, tetra-N-phenylbenzidine, 4,4′-bis(N-carbazolyl)-1,1′-biphenyl, 1,3,5-tris(diphenylamino)benzene, and 9,10-bis(phenylethynyl)anthracene. The solubilities are those in pressurized hot water (PHW), i.e., measured at elevated temperature (up to 260 °C) and pressure. The semi-quantitative estimates of room-temperature solubilities of the solutes have been obtained from extrapolations of the solubilities in PHW. For the compounds studied, the estimated aqueous solubilities at room temperature do not exceed 2 × 10^?11 g of the solute per 1 kg of water. Aqueous solubilities of triphenylamine have also been measured and used to upgrade a recent group-contribution model of aqueous solubilities of organic nonelectrolytes with the parameters for the nitrogen atom in aromatic amines.     

Seasonal,diurnal and nocturnal variations of carbonyl compounds in the semi-urban environment of Orléans,France

Atmospheric carbonyls were measured at a semi-urban site in Orléans, France, from October 2010to July2011. Formaldehyde, acetaldehyde and acetone were found to be the most abundant carbonyls, with average concentrations of 3.1, 1.0, 2.0 ppb, respectively in summer, 2.3, 0.7, 2.2 ppb, respectively in autumn, 2.2, 1.0, 2.1 ppb, respectively in spring,and 1.5, 0.7, 1.1 ppb, respectively in winter. Photo-oxidation of volatile organic compounds(VOCs) was found to make a remarkable contribution to atmospheric carbonyls in the semi-urban site based on the distinct seasonal and diurnal variations of the carbonyls, as well as the significantly positive correlations between the carbonyls and ozone. The significantly negative correlations between NO x and O_3 as well as the carbonyls and the positive correlations between wind speed and O_3 as well as the carbonyls implied that the carbonyls and O_3 at the semi-urban site were probably formed during air mass transport from neighboring cities.     

The role of grazing by the lysianassid amphipod<Emphasis Type="Italic"> Orchomenella aahu</Emphasis> in dieback of the kelp<Emphasis Type="Italic"> Ecklonia radiata</Emphasis> in north-eastern New Zealand

The lysianassid amphipod Orchomenella aahu was associated with small-scale mass mortality of Ecklonia radiata, the dominant laminarian alga in north-eastern New Zealand. O. aahu burrowed into and hollowed out stipes with severe bleaching, accelerating mortality by 12–14 months. Meristoderm tissue of bleached plants contained approximately one-third of the phlorotannin content (~4% dry mass) present in unbleached, apparently healthier, sporophytes (~12% dry mass). Unbleached stages consistently lacked amphipod damage. O. aahu also colonised plants when non-lethal storm damage afforded entry into the cortical layers of the primary lamina, and ultimately the stipe. O. aahu typically consumed both medullary and cortical tissue of the stipes, forming networked brood-chambers within them, with increasing populations often reducing the plant to the holdfast. There was synchronised mortality across sites and between depths over spatial scales of metres. Following loss of the mature canopy, recruitment of E. radiata was generally within 2 months at most study sites where mortality had occurred.Communicated by G.F. Humphrey, Sydney     

Environmental impact of the substitution of imported soybean meal with locally-produced rapeseed meal in dairy cow feed

Growing public concerns about the traceability, safety and environmental-friendliness of food products provide an incentive for shorter supply chains in agricultural production. Here, we assessed the environmental impacts of the substitution of imported soybean meal with locally-produced rapeseed meal in French dairy production systems, using a life-cycle approach. Two feeding rations based on either French-produced rapeseed meal or Brazilian-produced soy meal as concentrates, were compared for nine impact categories, including global warming, ecotoxicity and eutrophication. Crop production was the main contributor to most impacts, while overseas transport of soy meal only had a marginal effect. The “Soybean” ration appeared more environmentally-efficient than the “Rapeseed” ration because it involved less intensive management practices, in particular regarding synthetic fertilizers consumption. However, land use changes brought about by soybean cultivation should also be examined.     

Investigation of Environmental Effects Based on Exergetic Irreversibility for Display Cases’ Units in Commercial Cooling

This study examines energetic and exergetic performances of display cases’ units used in market applications depending on different refrigerants. Besides CO₂ emission potential of each refrigerant based on exergetic irreversibility obtained from analyses is calculated by the method of Total Equivalent Warming Impact (TEWI). In this study, 1 kW cooling capacity and vapor compression cooling cycle is taken as reference and refrigerants of R-22, R-134a, R-404A, and R-507 together with alternative refrigerant R-407C and R152a are examined separately. According to analyses, R-404A gas, used widely in market applications, has low performance with average COP 3.89 and average exergy efficiency 55.20%. R-152a gas has the best performance by the thermodynamics parameters including COP 4.49, exergy efficiency 63.79%, and 0.23 kW power consumption and emission parameter 14097.490 ton CO₂/year. Although COP is used as a criterion to evaluate the systems, this study finally emphasizes the importance of exergy analysis and TEWI method which are important methods to determine irreversibility and emission potential of the systems.     

Evidence of rich microbial communities in the subsoil of a boreal acid sulphate soil conducive to greenhouse gas emissions

The largest areas of acid sulphate (AS) soils in Europe are located in Finland, where 67,000–130,000 ha of AS soils are in agricultural use. In addition to their acidifying effects on waters, AS soils might be a significant source of greenhouse gases. In this pilot research, carbon and nitrogen content and microbial activity were studied in an AS and a non-AS soil. Large carbon and nitrogen stocks (110 Mg C_org ha^?1 and 15 Mg N_tot ha^?1) as well as high substrate induced respiration (33 μg CO₂–C g^?1h^?1) were found in the C horizons of the AS soil but not in the non-AS soil. High microbial activity in these horizons of the AS soil was further confirmed by the measurement of dehydrogenase activity, basal respiration, the numbers of culturable bacterial cells, and the ratio of culturable to total numbers of cells. Still, the denitrifying enzyme activity was very low in the anaerobic horizons of the AS soil, indicating the prevalence of microbes other than denitrifiers. We suspect that the microbial community originated with the genesis of AS soil and has been supported by the large stocks of accumulated carbon and mineral nitrogen in the C horizons. If these permanently water-saturated subsoils are exposed to oxygen and their microbial activity consequently increases, large carbon and nitrogen stocks are likely to be mobilised, resulting in increased emission of greenhouse gases. Additional studies of boreal AS soils are needed to assess their potential contribution to increases in greenhouse gas fluxes at the local, regional, and global scales.