Prenatal sonographic diagnosis of the 49,XXXXY syndrome

The 49,XXXXY syndrome is a rare sex chromosome anomaly with an approximate incidence of 1 in 85 000 male live births. The diagnosis is usually ascertained postnatally by the association of mental retardation, variable growth deficiency, Down syndrome-like facial dysmorphy, hypogenitalism and other malformations, especially involving the heart and skeleton. Prenatal diagnosis of the pentasomy 49,XXXXY is generally fortuitous and sonographic features have rarely been described in the literature. We report here on two cases of 49,XXXXY syndrome diagnosed prenatally because of sonographic abnormalities. In the first, amniocentesis was performed at 26 weeks' gestation for polyhydramnios, unilateral clubfoot and micropenis. In the second, a karyotype was carried out on chorionic villi at 13 weeks' gestation for cystic hygroma. These observations and the six previously reported cases demonstrate that cystic hygroma in first or second trimester of pregnancy may be associated with sex chromosome aneuploidy other than Turner syndrome. Moreover, they emphasize the importance of detailed sonographic examination in the second trimester, as small penis and abnormal posturing of the lower extremities are very suggestive of the 49,XXXXY syndrome. Copyright © 2002 John Wiley & Sons, Ltd.     

A multiobjective modeling approach to locate multi-compartment containers for urban-sorted waste

The location of multi-compartment sorted waste containers for recycling purposes in cities is an important problem in the context of urban waste management. The costs associated with those facilities and the impacts placed on populations are important concerns. This paper introduces a mixed-integer, multiobjective programming approach to identify the locations and capacities of such facilities. The approach incorporates an optimization model in a Geographical Information System (GIS)-based interactive decision support system that includes four objectives. The first objective minimizes the total investment cost; the second one minimizes the average distance from dwellings to the respective multi-compartment container; the last two objectives address the “pull” and “push” characteristics of the decision problem, one by minimizing the number of individuals too close to any container, and the other by minimizing the number of dwellings too far from the respective multi-compartment container. The model determines the number of facilities to be opened, the respective container capacities, their locations, their respective shares of the total waste of each type to be collected, and the dwellings assigned to each facility. The approach proposed was tested with a case study for the historical center of Coimbra city, Portugal, where a large urban renovation project, addressing about 800 buildings, is being undertaken. This paper demonstrates that the models and techniques incorporated in the interactive decision support system (IDSS) can be used to assist a decision maker (DM) in analyzing this complex problem in a realistically sized urban application. Ten solutions consisting of different combinations of underground containers for the disposal of four types of sorted waste in 12 candidate sites, were generated. These solutions and tradeoffs among the objectives are presented to the DM via tables, graphs, color-coded maps and other graphics. The DM can then use this information to “guide” the IDSS in identifying additional solutions of potential interest. Nevertheless, this research showed that a particular solution with a better objective balance can be identified. The actual sequence of additional solutions generated will depend upon the objectives and preferences of the DM in a specific application.     

Effectiveness of Multi‐Site Weather Generator for Hydrological Modeling1

Khalili, Malika, François Brissette, and Robert Leconte, 2011. Effectiveness of Multi‐site Weather Generator for Hydrological Modeling. Journal of the American Water Resources Association (JAWRA) 1‐12. DOI: 10.1111/j.1752‐1688.2010.00514.x Abstract: A multi‐site weather generator has been developed using the concept of spatial autocorrelation. The multi‐site generation approach reproduces the spatial autocorrelations observed between a set of weather stations as well as the correlations between each pair of stations. Its performance has been assessed in two previous studies using both precipitation and temperature data. The main objective of this paper is to assess the efficiency of this multi‐site weather generator compared to a uni‐site generator with respect to hydrological modeling. A hydrological model, known as Hydrotel, was applied over the Chute du Diable watershed, located in the Canadian province of Quebec. The distributed nature of Hydrotel accounts for the spatial variations throughout the watershed, and thus allows a more in‐depth assessment of the effect of spatially dependent meteorological input on runoff generation. Simulated streamflows using both the multi‐site and uni‐site generated weather data were statistically compared to flows modeled using observed data. Overall, the hydrological modeling using the multi‐site weather generator significantly outperformed that using the uni‐site generator. This latter combined to Hydrotel resulted in a significant underestimation of extreme streamflows in all seasons.     

An investigation on the use of shredded waste PET bottles as aggregate in lightweight concrete

In this work, the utilization of shredded waste Poly-ethylene Terephthalate (PET) bottle granules as a lightweight aggregate in mortar was investigated. Investigation was carried out on two groups of mortar samples, one made with only PET aggregates and, second made with PET and sand aggregates together. Additionally, blast-furnace slag was also used as the replacement of cement on mass basis at the replacement ratio of 50% to reduce the amount of cement used and provide savings. The water–binder (w/b) ratio and PET–binder (PET/b) ratio used in the mixtures were 0.45 and 0.50, respectively. The size of shredded PET granules used in the preparation of mortar mixtures were between 0 and 4 mm. The results of the laboratory study and testing carried out showed that mortar containing only PET aggregate, mortar containing PET and sand aggregate, and mortars modified with slag as cement replacement can be drop into structural lightweight concrete category in terms of unit weight and strength properties. Therefore, it was concluded that there is a potential for the use of shredded waste PET granules as aggregate in the production of structural lightweight concrete. The use of shredded waste PET granules due to its low unit weight reduces the unit weight of concrete which results in a reduction in the death weight of a structural concrete member of a building. Reduction in the death weight of a building will help to reduce the seismic risk of the building since the earthquake forces linearly dependant on the dead-weight. Furthermore, it was also concluded that the use of industrial wastes such as PET granules and blast-furnace slag in concrete provides some advantages, i.e., reduction in the use of natural resources, disposal of wastes, prevention of environmental pollution, and energy saving.     

Prenatal screening and diagnosis of congenital toxoplasmosis: a review of safety issues and psychological consequences for women who undergo screening

As part of the EUROTOXO initiative, this review focuses on the potential risks associated with prenatal testing for congenital toxoplasmosis. We first review the evidence on the risks of adverse events associated with amniocentesis, which is required for definitive diagnosis of toxoplasmosis infection in the fetus, and for which the most important risk is fetal loss. To date, there has been only one randomized trial to document risks associated with amniocentesis. This trial, which was conducted in 1986, reported a procedure-related rate of fetal loss of 1.0% (95% CI, 0.3–1.5). However, evidence from available controlled studies suggests that the pregnancy loss associated with mid-trimester amniocentesis may be lower. Potential psychological consequences of prenatal testing for congenital toxoplasmosis include parental anxiety due to false positive results and uncertainties related to prognosis of children with a prenatal diagnosis of congenital toxoplasmosis. Parental anxiety may be particularly important in screening strategies that include more frequent screenings, which may in turn entail substantial, and at times unnecessary, anxiety or other negative consequences for women and their families. These negative psychological outcomes should be balanced against the benefits of testing, which can allow women to make an informed choice regarding the pregnancy. Copyright © 2007 John Wiley & Sons, Ltd.