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.     

Prenatal diagnosis of Freeman–Sheldon syndrome (whistling face)

The diagnosis of Freeman–Sheldon syndrome was made by ultrasonographic evaluation of a 20-week fetus with a positive family history. The ultrasonographic features were abnormalities of the extremities and mouth.     

Prenatal diagnosis of mosaic 4p – in a fetus with trisomy 21

Mosaicism for the Wolf-Hirschhorn syndrome, del(4)(p16), is extremely rare and has not been reported in association with a numerical chromosome abnormality. We report the prenatal diagnosis of mosaic del(4)(p16) and non-mosaic trisomy 21 in a 16-week female fetus. The pregnancy ended in spontaneous abortion at 34 weeks secondary to fetal demise. The fetus had features of both 4p – and trisomy 21.     

Renatal diagnosis of mosaic tetrasomy 12p/trisomy 12p by fluorescent in situ hybridization in amniotic fluid cells: A case report of pallister–killian syndrome

A prenatally detected case of a rare mosaic tetrasomy 12p/trisomy 12p is reported, presenting as the well-known accessory isochromosome 12p and a supernumerary single 12p marker in 17/24 and 6/24 clones of cultured amniotic fluid cells, respectively. The chromosomal nature of both marker chromosomes was investigated in cultured amniotic fluid cells by fluorescent in situ hybridization with various probes: the 12-centromeric probes pa12H8 and D12Z3, a whole chromosome 12 paint, and the chromosome 12p-specific paint M28. DNA analysis revealed a maternal origin of the extra 12p material. After counselling, the parents requested termination of pregnancy. Inspection and autopsy of the fetus revealed many of the dysmorphisms and internal structural abnormalities of the Pallister–Killian syndrome.     

Emissions associated with meeting the future global wheat demand: A case study of UK production under climate change constraints

Climate change, population growth and socio-structural changes will make meeting future food demands extremely challenging. As wheat is a globally traded food commodity central to the food security of many nations, this paper uses it as an example to explore the impact of climate change on global food supply and quantify the resulting greenhouse gas emissions. Published data on projected wheat production is used to analyse how global production can be increased to match projected demand. The results show that the largest projected wheat demand increases are in areas most likely to suffer severe climate change impacts, but that global demand could be met if northern hemisphere producers exploit climate change benefits to increase production and narrow their yield gaps. Life cycle assessment of different climate change scenarios shows that in the case of one of the most important wheat producers (the UK) it may be possible to improve yields with an increase of only 0.6% in the emission intensity per unit of wheat produced in a 2 °C scenario. However, UK production would need to rise substantially, increasing total UK wheat production emissions by 26%. This demonstrates how national emission inventories and associated targets do not incentivise minimisation of global greenhouse gas emissions while meeting increased food demands, highlighting a triad of challenges: meeting the rising demand for food, adapting to climate change and reducing emissions.     

The climate adaptation imperative: local choices targeting global problems?

When confronted with the demands of global climate change, what causes some policy-makers to move the climate adaptation agenda forward in their communities, while others seemingly get little accomplished? To answer this question, we first discuss work on policy-drivers in a coupled human–natural systemic context. This summary review of past research helps us develop a set of competing and complementary explanations for why some communities aggressively pursue climate adaptation policies, while others do less. Following the discussion of policy-drivers, we then undertake an aggregate-level analysis of data collected across the 169 towns in Connecticut regarding climate adaptation, thus linking policy to its fundamental global cause. The quantitative data are augmented with interview data from policy-makers and activists from around the New England region.     

Using Sound to Reduce Visual Distraction from In-vehicle Human–Machine Interfaces

Objective: Driver distraction and inattention are the main causes of accidents. The fact that devices such as navigation displays and media players are part of the distraction problem has led to the formulation of guidelines advocating various means for minimizing the visual distraction from such interfaces. However, although design guidelines and recommendations are followed, certain interface interactions, such as menu browsing, still require off-road visual attention that increases crash risk. In this article, we investigate whether adding sound to an in-vehicle user interface can provide the support necessary to create a significant reduction in glances toward a visual display when browsing menus.

Methods: Two sound concepts were developed and studied; spearcons (time-compressed speech sounds) and earcons (musical sounds). A simulator study was conducted in which 14 participants between the ages of 36 and 59 took part. Participants performed 6 different interface tasks while driving along a highway route. A 3 × 6 within-group factorial design was employed with sound (no sound /earcons/spearcons) and task (6 different task types) as factors. Eye glances and corresponding measures were recorded using a head-mounted eye tracker. Participants’ self-assessed driving performance was also collected after each task with a 10-point scale ranging from 1 = very bad to 10 = very good. Separate analyses of variance (ANOVAs) were conducted for different eye glance measures and self-rated driving performance.

Results: It was found that the added spearcon sounds significantly reduced total glance time as well as number of glances while retaining task time as compared to the baseline (= no sound) condition (total glance time M = 4.15 for spearcons vs. M = 7.56 for baseline, p =.03). The earcon sounds did not result in such distraction-reducing effects. Furthermore, participants ratings of their driving performance were statistically significantly higher in the spearcon conditions compared to the baseline and earcon conditions (M = 7.08 vs. M = 6.05 and M = 5.99 respectively, p =.035 and p =.002).

Conclusions: The spearcon sounds seem to efficiently reduce visual distraction, whereas the earcon sounds did not reduce distraction measures or increase subjective driving performance. An aspect that must be further investigated is how well spearcons and other types of auditory displays are accepted by drivers in general and how they work in real traffic.     

Numerical simulation of premixed methane–air deflagration in a semi-confined obstructed chamber

In this paper, large eddy simulation coupled with a turbulent flame speed cloure (TFC) subgrid combustion model has been utilized to simulate premixed methane–air deflagration in a semi-confined chamber with three obstacles mounted inside.The computational results are in good agreement with published experimental data, including flame structures, pressure time history and flame speed. The attention is focused on the flame flow field interaction, pressure dynamics, as well as the mechanism of obstacle-induced deflagration. It is found that there is a positive feedback mechanism established between the flame propagation and the flow field. The pressure time history can be divided into four stages and the pseudo-combustion concept is proposed to explain the pressure oscillation phenomenon. The obstacle-induction mechanism includes direct effect and indirect effect, but do not always occur at the same time.     

The Effect of Local Biomass Projects on Energy Balance and GHG Emission: A Life Cycle Approach

Emerging attention has been given to the use of biomass in local areas for its contribution to reducing fossil fuel dependence and mitigating global warming. The objective of the present study is to develop a method that quantitatively assesses the effects of local biomass projects on fossil fuel consumption and greenhouse gas (GHG) emission. A practical method based on a life cycle approach is proposed and applied to a case of bioethanol project in Miyako Islands of Japan. The project is aiming to produce bioethanol from molasses within the islands, and to replace the entire gasoline consumed in the islands to E3 fuel (i.e., a mixture of 3% ethanol and 97% gasoline by volume). The assessment using the developed method revealed that, first, the complete shift from gasoline to E3 fuel allows for decreases in fossil fuel consumption and GHG emission. Second, the performance of the project is improved by the integration of the ethanol plant and the sugar factory. Moreover, the assessment found that, in small-scale bioethanol projects, the contribution of capital goods to life cycle fuel consumption and GHG emission is not negligible.