Fetal phenotype of Prader–Willi syndrome due to maternal disomy for chromosome 15

Prader–Willi syndrome (PWS) results from either paternal deletion of 15q11–q13, or maternal uniparental disomy (UPD) of chromosome 15 or imprinting center mutation. Prenatal diagnosis of PWS is currently indicated for chromosomal parental translocation involving chromosome 15 and for decreased fetal movements during the third trimester of gestation. Here we present the prenatal diagnosis of PWS during the first trimester of gestation and autopsy findings. Chorionic villus sampling (CVS) was performed for advanced maternal age at 13 weeks' gestation. CVS showed mosaicism including cells with a normal karyotype and cells with trisomy 15. Amniocentesis showed cells with a normal karyotype. Molecular analysis demonstrated that the fetus had a typical PWS abnormal methylation profile and maternal disomy for chromosome 15. Fetal ultrasound examination showed slightly enlarged lateral ventricles and hypoplasic male external genitalia without intra-uterine growth retardation. The autopsy showed a eutrophic male fetus with facial dysmorphy, hypoplasic genitalia, abnormal position of both feet and posterior hypoplasia of the corpus callosum. This report points out that in a karyotypically normal fetus with ambiguous male external genitalia and cerebral anomalies, extensive cytogenetic and molecular biology studies are strongly recommended because of risk of PWS. Copyright © 2003 John Wiley & Sons, Ltd.     

Headwater streams: neglected ecosystems in the EU Water Framework Directive. Implications for nitrogen pollution control

The European Union Water Framework Directive (WFD) aims to achieve the “good status” of waters by 2015, through monitoring and control of human impacts on “bodies of surface water” (BSWs), discrete elements for quality diagnosis and management. Headwater streams, however, are frequently neglected as they are not usually recognised as BSW. This poses limitations for the management of river catchments, because anthropogenic impacts on headwaters can constrain the quality of downstream rivers. To illustrate this problem, we compared nitrate levels and land use pressures in a small agricultural catchment with those recorded in the catchment in which it is embedded (Ega), and in the Ebro River Basin (NE Spain) comprising both. Agriculture greatly influenced water nitrate concentration, regardless of the size of the catchments: R² = 0.91 for headwater catchments (0.1–7.3 km²), and R² = 0.82 for Ebro tributary catchments (223–3113 km²). Moreover, nitrate concentration in the outlet of a non-BSW small river catchment was similar to that of the greater downstream BSW rivers. These results are of interest since, despite representing 76% of the length of the Ega catchment hydrographical network, only 3.1% of the length of the headwater streams has been identified as BSWs. Human activities affecting headwater streams should therefore be considered if the 2015 objective of the WFD is to be achieved.     

Effect of varying two key parameters in simulating evacuation for subway stations in China

With the rapid development in economics, subway systems have been constructed in many big cities of China. Computer evacuation models developed overseas are commonly applied in working out safety management scheme. However, input evacuation parameters are not compiled from surveying passenger behavior in China. In fact, very few studies were conducted on justifying such parameters. Staircases in subway stations, particularly those connecting the platform and the ticket hall, are identified as the ‘bottleneck’ during evacuation in the subway stations. The maximum upstairs speed and the average minimum width of staircase utilized per person are the two key parameters affecting the evacuation through the staircase. Effect of varying these two parameters will be studied in this paper by taking two subway stations in China as examples. Evacuation performance is predicted with the software buildingEXODUS. The default values in the software are used and adjusted through field survey. Effect of varying either or both of the two parameters is discussed. The possible causes on the differences and the factors to affect such effect are explored. It is found that changing both parameters simultaneously would reduce the overall evacuation time by 50%. The effect of varying the two parameters on the overall evacuation performance of the whole station depends also on the occupancy density in the station; and the travel distance from the outlet of the staircase between the platform and the ticket hall to the inlet of the staircase between the ticket hall and the ground surface.     

Underwater LNG release: Does a pool form on the water surface? What are the characteristics of the vapor released?

One of the scenarios of concern in assessing the safety issues related to transportation of LNG in a marine environment (ship or underwater pipeline) is the release of LNG underwater. This scenario has not been given the same level of scientific attention in the literature compared to surface releases and assessment of consequences therefrom. This paper addresses questions like, (1) does an LNG spill underwater form a pool on the water surface and subsequently evaporate like an LNG spill “on the surface” producing cold, heavier than air vapors?, and (2) what is the range of expected temperatures of the vapor, generated by LNG release due to heat transfer within the water column, when it emanates from the water surface?Very limited data from two field tests of LNG underwater release are reviewed. Also presented are the results from tests conducted in other related industries (metal casting, nuclear fission and fusion, chemical processing, and alternative fuel vehicles) where a hot (or cold) liquid is injected into a bulk cold (or hot) liquid at different depths.A mathematical model is described which calculates the temperature of vapor emanating at the water surface, and the liquid fraction of released LNG that surfaces, if any, to form a pool on the water surface. The model includes such variables as the LNG release rate, diameter of the jet at release, depth of release and water body temperature. Results obtained from the model for postulated release conditions are presented. Comparison of predicted results with available LNG underwater release test data is also provided.     

Modeling the heat transfer in acetylene cylinders during and after the exposure to fire

In this paper two different approaches for predicting the heating-up of an acetylene cylinder involved in a fire and the afterward cooling with water are presented. In the simulations polynomial functions were used to describe the temperature dependency of the thermal properties of the cylinder interior, which is a complex system composed by a solid porous material, a solvent (typically acetone) and acetylene dissolved in it. Model equations covered heat conduction in the cylinder interior and at its walls. In the first approach the cylinder surroundings were simulated as a further domain constituted by CO₂, during the fire exposure, and for water, during the cooling. In this domain the coupled heat transfer (convection and conduction) and the momentum equation (Navier–Stokes) were solved. In the second approach no further domain was considered but boundary conditions were set directly on the cylinder walls. Results of the calculations performed with both approaches are presented. This work could prove helpful in predicting to which extent the interior of an acetylene cylinder exposed to fire reaches temperatures capable of initiating the decomposition of acetylene and to determine how long a water cooling should be applied, so that the system is brought again under non-critical conditions.     

Effect of enhanced seat belt reminders on driver fatality risk

Objective

Enhanced seat belt reminders in automobiles have been shown to increase belt use rates by approximately 3 percentage points. The objective of this study was to estimate the effect of enhanced seat belt reminders on driver fatality risk.

Method

Data included all passenger vehicle driver deaths and vehicle registration counts in the United States for calendar years 2000-2007. Driver fatality rates per vehicle registration per year were compared for otherwise identical vehicle models with and without enhanced seat belt reminders.

Results

Driver fatality rates were 6% lower for vehicles with enhanced seat belt reminders compared with vehicles without enhanced belt reminders. After adjusting for vehicle age differences, the estimated effect of enhanced belt reminders on driver fatality risk ranged from a 9% reduction for General Motors vehicles to a 2% increase for Honda vehicles. Combining all manufacturers, enhanced belt reminders reduced fatality risk by approximately 2%. Although not statistically significant, the 2% reduction in fatality risk agrees with what should be expected from a 3 percentage point increase in seat belt use rates.

Conclusions

Enhanced seat belt reminders have raised driver belt use rates and reduced fatality rates, but more aggressive systems may be needed for some drivers. It can be inferred that nonfatal injury rates also have been reduced.

Impact on Industry

Manufacturers should be encouraged to put enhanced seat belt reminders on all vehicles as soon as possible.