Prenatal detection of monosomy 21 mosaicism

We report a case of chromosomal mosaicism for monosomy 21 revealed in amniotic fluid cell culture. Ultrasound examination at 19 weeks' gestation showed in utero growth retardation and a complex cardiac malformation. A repeated amniocentesis confirmed the presence of monosomy 21 mosaicism. In view of the sonographically detected fetal abnormalities, termination of pregnancy was elected.     

Evaluation of mercury biogeochemical cycling at the sediment–water interface in anthropogenically modified lagoon environments

The Marano and Grado Lagoon is well known for being contaminated by mercury(Hg) from the Idrija mine(Slovenia) and the decommissioned chlor-alkali plant of Torviscosa(Italy).Experimental activities were conducted in a local fish farm to understand Hg cycling at the sediment–water interface. Both diffusive and benthic fluxes were estimated in terms of chemical and physical features. Mercury concentration in sediments(up to 6.81 μg/g)showed a slight variability with depth, whereas the highest methylmercury(MeHg) values(up to 10 ng/g) were detected in the first centimetres. MeHg seems to be produced and stored in the 2–3 cm below the sediment–water interface, where sulphate reducing bacteria activity occurs and hypoxic–anoxic conditions become persistent for days. DMeHg in porewaters varied seasonally(from 0.1 and 17% of dissolved Hg(DHg)) with the highest concentrations in summer. DHg diffusive effluxes higher(up to 444 ng/m~2/day) than those reported in the open lagoon(~ 95 ng/m~2/day), whereas DMeHg showed influxes in the fish farm(up to-156 ng/m~2/day). The diurnal DHg and DMeHg benthic fluxes were found to be higher than the highest summer values previously reported for the natural lagoon environment. Bottom sediments, especially in anoxic conditions, seem to be a significant source of MeHg in the water column where it eventually accumulates. However, net fluxes considering the daily trend of DHg and DMeHg, indicated possible DMeHg degradation processes. Enhancing water dynamics in the fish farm could mitigate environmental conditions suitable for Hg methylation.     

Early detection and evaluation of waste through sensorized containers for a collection monitoring application

The present study describes a novel application for use in the monitoring of municipal solid waste, based on distributed sensor technology and geographical information systems. Original field testing and evaluation of the application were carried out in Pudong, Shanghai (PR China).The local waste management system in Pudong features particular requirements related to the rapidly increasing rate of waste production. In view of the fact that collected waste is currently deployed to landfills or to incineration plants within the context investigated, the key aspects to be taken into account in waste collection procedures include monitoring of the overall amount of waste produced, quantitative measurement of the waste present at each collection point and identification of classes of material present in the collected waste. The case study described herein focuses particularly on the above mentioned aspects, proposing the implementation of a network of sensorized waste containers linked to a data management system.Containers used were equipped with a set of sensors mounted onto standard waste bins. The design, implementation and validation procedures applied are subsequently described. The main aim to be achieved by data collection and evaluation was to provide for feasibility analysis of the final device. Data pertaining to the content of waste containers, sampled and processed by means of devices validated on two purpose-designed prototypes, were therefore uploaded to a central monitoring server using GPRS connection. The data monitoring and management modules are integrated into an existing application used by local municipal authorities.A field test campaign was performed in the Pudong area. The system was evaluated in terms of real data flow from the network nodes (containers) as well as in terms of optimization functions, such as collection vehicle routing and scheduling. The most important outcomes obtained were related to calculations of waste weight and volume. The latter data were subsequently used as parameters for the routing optimization of collection trucks and material density evaluation.     

The free energy and information embodied in the amino acid chains of organisms

It is generally accepted as a useful and workable hypothesis that when an ecosystem receives an inflow of exergy (energy that can do work) it will utilize this flow of exergy to move as far away from thermodynamic equilibrium as possible after the exergy (energy) for maintenance has been covered. If more combinations of system components including organisms are offered, the combination of components and processes that will bring the system most away from thermodynamic equilibrium will win.The amino acid sequences of the proteins e.g. enzymes determine and control the life processes of the organisms and may be viewed as information sensu lato. The free energy of oxidation of the amino acids and the peptide bonds of the cell enzymes expresses therefore the exergy content, eco-exergy or work capacity that the information contributes to “moving further away from thermodynamic equilibrium”. In this paper eco-exergy is calculated and plotted versus the β-values (a measure of the information contained in the genome) for different organisms. The eco-exergy density was previously (see [J?rgensen et al., 1995] and [J?rgensen et al., 2005]) proposed to be calculated as the summation of the product of the β-values representing the information of the genome multiplied by the concentrations of the respective ecosystem components. This analysis shows a strong correlation between the β-values and free energy released when oxidizing the enzymes. The β-values can therefore be assumed to represent the free energy that the organisms have invested in genetic information.     

Role of the second-trimester ‘genetic sonogram’ for Down syndrome screen in the era of first-trimester screening and noninvasive prenatal testing

Ultrasonography for the screening of Down syndrome was first introduced about 25 years ago. Different combinations of markers detectable at second-trimester ultrasonography have been proposed under the banner of ‘genetic sonogram’. In recent years, several developments in first-trimester screening and the recent introduction of noninvasive prenatal testing for aneuploidy screening have had important implications for the prevalence of these conditions in the second-trimester and the screening performance of a genetic sonogram. Several second-trimester sonographic markers for Down syndrome have been reported; meta-analysis has shown that the most powerful predictors are mild ventriculomegaly, increased nuchal fold, hyperechoic bowel, and absent or hypoplastic nasal bone. Whereas use of individual markers should be discouraged and scoring systems of multiple markers are now obsolete, use of combined likelihood ratio and logistic regression analysis formulae provides better accuracy. However, there is significant heterogeneity in results among studies. Despite such limitations, the genetic sonogram will continue to have a place in prenatal screening, particularly in twin and higher-order multiple pregnancies, in countries with limited access to the most recent genetic screening tests, in cases with borderline results at maternal serum screening tests, and as noninvasive supplementary test for high-risk women reluctant to undergo invasive diagnostic testing. © 2014 John Wiley & Sons, Ltd.     

Aluminium flows in vehicles: enhancing the recovery at end-of-life

The transportation sector constitutes the major end-use market for aluminium-containing products and expectations for the future do indicate that aluminium will increase at 140 kg per vehicle. Moreover, up to 75 % aluminium recycled in Europe is used in transportation: thus, metal scrap recovered from ELVs is a key lever to act for closing material cycles. However, although the management chain of ELVs has an established procedure and aluminium scrap is usually recovered in shredding plants, a considerable fraction of the metal particles ends up in the light fraction called car fluff and is then landfilled. In this study we investigated potential of enhancing the recovery of aluminium scrap from the light fluff treatment. With this goal, the quantity of aluminium embedded in the Italian transport sector in the last 62 years was estimated, and a campaign of characterization in size and shape distribution of aluminium particles in the light fluff output has been carried out. The results estimated up to about 560,000 tons of metal are potentially recoverable from the treatment of light fluff at current operating conditions, but relevant improvements may be achieve when size and shape distribution criteria are adopt to implement eddy currents separation for a quantitative metal recovery.     

A simplified approach to address turbulence modulation in turbidity currents as a response to slope breaks and loss of lateral confinement

Turbidity currents traversing canyon-fan systems flow over bed slopes that decrease in the downstream direction. This slope decrease eventually causes turbidity currents to decelerate and enter a net-depositional mode. When the slope decrease is relatively rapid in the downstream direction, the turbidity current undergoes a concomitantly rapid and substantial transition. Similar conditions are found when turbidity currents debouch to fan systems with loss of lateral confinement. In this work a simplified approach to perform direct numerical simulation of continuous turbidity currents undergoing slope breaks and loss of lateral confinement is presented and applied to study turbulence modulation in the flow. The presence of settling sediment particles breaks the top–bottom symmetry of the flow, with a tendency to self-stratify. This self-stratification damps turbulence, particularly near the bottom wall, affecting substantially the flow’s ability to transport sediment in suspension. This work reports results on two different situations: turbidity currents driven by fine and coarser sediment flowing through a decreasing slope. In the case of fine sediment, after the reduction in the slope of the channel, the flow remains turbulent with only a modest influence on turbulence statistics. In the case of coarse sediments, after the change in slope, turbulence is totally suppressed.