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.     

The adaptive capacity of institutions in the spatial planning,water, agriculture and nature sectors in the Netherlands

The climate change problem calls for a continuously responding society. This raises the question: Do our institutions allow and encourage society to continuously adapt to climate change? This paper uses the Adaptive Capacity Wheel (ACW) to assess the adaptive capacity of formal and informal institutions in four sectors in the Netherlands: spatial planning, water, agriculture and nature. Formal institutions are examined through an assessment of 11 key policy documents and informal institutions are analysed through four case studies covering each sector. Based on these ACW analyses, both sector-specific and more general strengths and weaknesses of the adaptive capacity of institutions in the Netherlands are identified. The paper concludes that the most important challenge for increasing institutional adaptive capacity lies in combining decentralized, participatory approaches with more top-down methods that generate leadership (visions, goals) standards, instruments, resources and monitoring.     

Ecodesign methods focused on remanufacturing

Understanding the product's ‘end-of-life’ is important to reduce the environmental impact of the products' final disposal. When the initial stages of product development consider end-of-life aspects, which can be established by ecodesign (a proactive approach of environmental management that aims to reduce the total environmental impact of products), it becomes easier to close the loop of materials. The ‘end-of-life’ ecodesign methods generally include more than one ‘end-of-life’ strategy. Since product complexity varies substantially, some components, systems or sub-systems are easier to be recycled, reused or remanufactured than others. Remanufacture is an effective way to maintain products in a closed-loop, reducing both environmental impacts and costs of the manufacturing processes. This paper presents some ecodesign methods focused on the integration of different ‘end-of-life’ strategies, with special attention to remanufacturing, given its increasing importance in the international scenario to reduce the life cycle impacts of products.     

Analysis of running child pedestrians impacted by a vehicle using rigid-body models and optimization techniques

Lack of information from vehicle-to-child pedestrian impacts provides considerable challenges when developing vehicle countermeasures for the pediatric population. Crash reconstructions of real-world incidents provide useful information about the vehicle damage and injury outcome but do not permit definitive and quantitative measures of the impact severity given the high level of uncertainty in the initial conditions of the pedestrian and the vehicle prior the impact. This paper develops an advanced methodology for reconstructing child pedestrian–vehicle impacts that combines the crash data with multi-body simulations and optimization techniques for identifying the pedestrian posture and vehicle speed prior to impact. For the child pedestrian posture, a continuous sequence of the running gait was developed based on the literature data and simulations. Using vehicle damage information from an actual child pedestrian crash, an objective function was developed that minimized the difference between vehicle and pedestrian contact points for the simulated child postures, pedestrian, and vehicle speeds. Simulated annealing and genetic optimization algorithms were used to identify sets of potential solutions for the pedestrian and vehicle initial conditions. Local minimums were observed for several response surfaces of the objective function which shows the non-convex nature of the crash reconstruction optimization problem with the chosen objective function. Based on the results of the real-world reconstruction, this study indicates that numerical simulations coupled with heuristic optimization algorithms can be used to reconstruct child pedestrian and vehicle pre-impact conditions.     

Evaluating safety management and culture interventions to improve safety: Effective intervention strategies

The Dutch Ministry of Social Affairs and Employment provided subsidy over the period 2004–2008 to a number of companies to introduce changes aimed at reducing accidents by changing their safety culture and aspects of their safety management. As part of the programme a scientific evaluation was set up to assess the effectiveness of the interventions in 17 of the projects, covering 29 companies. Before and after studies were made of the companies, documenting the state of their safety management and risk control efforts and their accident rates before the intervention, the changes made over the study period and the resulting changes in a range of measures aimed at assessing the success of the changes. The analysis led to a categorisation of the projects according to their degree of success.This paper describes the patterns of interventions distinguishing between successful and not successful projects and discusses the mechanisms lying behind them. Interventions bringing about constructive dialogue between shop-floor and line management, providing motivation to line managers and strengthening the monitoring and learning loops in the safety management system (SM) appeared more successful. The amount of energy and creativity injected by top managers and, above all, by the coordinator (safety professional) appeared also to be a distinguishing factor.     

New investigation findings on the 2006 Danvers,MA explosion

On November 22, 2006 the largest explosion in the history of Massachusetts occurred in Danvers, MA at approximately 2:46 am. This paper presents a detailed analysis into the potential causes and lessons learned from the Danvers explosion. Other investigative groups concluded that the cause of the explosion was an overheated production tank. However, the analyses presented here demonstrate that their proposed scenario could not have occurred and that other potential causes are more likely.Using the computational fluid dynamics tool FLACS, it was possible to investigate the chain of events leading to the explosion, including: (1) evaluating various leak scenarios by modeling the dispersion and mixing of gases and vapors within the facility, (2) evaluating potential ignition sources within the facility of the flammable fuel–air mixture, and (3) evaluating the explosion itself by comparing the resulting overpressures of the exploding fuel–air cloud with the structural response of the facility and the observed near-field and far-field blast damage. These results, along with key witness statements and other analyses, provide valuable insight into the likely cause of this incident. Based on the results of our detailed analysis, lessons learned regarding the investigative procedure and methods for mitigating this and future explosions are discussed.     

Using computational fluid dynamics (CFD) for blast wave predictions

Explosions will, in most cases, generate blast waves. While simple models (e.g., Multi Energy Method) are useful for simple explosion geometries, most practical explosions are far from trivial and require detailed analyses. For a reliable estimate of the blast from a gas explosion it is necessary to know the explosion strength. The source explosion may not be symmetric; the pressure waves will be reflected or deflected when hitting objects, or even worse, the blast waves may propagate inside buildings or tunnels with a very low rate of decay. The use of computational fluid dynamics (CFD) explosion models for near and far field blast wave predictions has many advantages. These include more precise estimates of the energy and resulting pressure of the blast wave, as well as the ability to evaluate non-symmetrical effects caused by realistic geometries, gas cloud variations and ignition locations. This is essential when evaluating the likelihood of a given leak source as cause of an explosion or equally when evaluating the potential risk associated with a given leak source for a consequence analysis.In addition, unlike simple methods, CFD explosion models can also evaluate detailed dynamic effects in the near and far field, which include time dependent pressure loads as well as reflection and focusing of the blast waves. This is particularly valuable when assessing actual near-field blast damage during an explosion investigation or potential near-field damage during a risk analysis for a facility. One main challenge in applying CFD, however, is that these models require more information about the actual facility, including geometry details and process information. Collecting the necessary geometry and process data may be quite time consuming. This paper will show some blast prediction validation examples for the CFD model FLACS. It will also provide examples of how directional effects or interaction with objects can significantly influence the dynamics of the blast wave. Finally, the challenge of obtaining useful predictions with insufficient details regarding the geometry will also be addressed.     

Anhydrous ethanol production by extractive distillation: A solvent case study

Production of anhydrous ethanol in large scale has been made by extractive distillation using conventional solvents like ethylene-glycol. In the present paper, extractive distillation process is studied to obtain pure ethanol using ethylene-glycol and tetraethylene-glycol as solvents. Residue curve maps are used to analyse the proposed distillation processes in interpreting mixture behaviours and feasibility of distillation columns. The industrial process is simulated at steady state from residue curve map analysis. Simulation results for the ethanol/water mixture using ethylene-glycol, the conventional solvent, and tetraethylene-glycol, an alternative solvent, are presented. These results showed that the process using tetraethylene-glycol is reliable, although it requires more energy than the process with ethylene-glycol. However, ethylene-glycol has a considerable toxicity level while tetraethylene-glycol is non-toxic.