Prenatal ultrasound diagnosis of a case of Pfeiffer syndrome without cloverleaf skull and review of the literature

Pfeiffer syndrome is characterized by bilateral coronal craniosynostosis, midface hypoplasia, beaked nasal tip, broad and medially deviated thumbs and great toes. Originally, it was described in eight persons from three generations in a pedigree consistent with an autosomal dominant transmission. Since then, several reports have documented its high clinical and genetic heterogeneity. The condition is usually detected in the newborn period or later, and very few prenatal ultrasound diagnoses have been reported. We present a case of Pfeiffer syndrome prenatally diagnosed at 20 weeks' gestation, in which the sonographic features of craniosynostosis, hypertelorism associated with an extreme proptosis, and broad thumb led to the diagnosis, confirmed after termination of pregnancy by dysmorphological, pathological and radiological evaluation. DNA analysis of the fibroblast growth factor receptor 2 (FGFR2) showed a missense mutation consisting in a transversion G → C at nucleotide 870. This led to a Trp290Cys amino acidic substitution. We discuss the relevant findings of our and previously published cases. Our report demonstrates that a careful sonographic examination can lead to an early prenatal diagnosis of Pfeiffer syndrome also in cases without cloverleaf skull. Copyright © 2004 John Wiley & Sons, Ltd.     

Tween 20 and Its Major Free Fatty Acids as Carbon Substrates for the Production of Polyhydroxyalkanoates in Pseudomonas aeruginosa ATCC 27853

The ability of Pseudomonas aeruginosa ATCC 27853 to grow and synthesize polyhydroxyalkanoates (PHAs) using Tween 20 as the sole carbon source was investigated. Tween 20 could support cell growth and PHA production. The polymer produced from Tween 20 was compared with those produced from its major free fatty acids components: lauric (C₁₂), myristic (C₁₄), and palmitic (C₁₆) acids. Gas-chromatographic analysis of methanolyzed samples and ¹³C-Nuclear Magnetic Resonance (NMR) showed that the PHAs obtained are composed of even carbon atoms 3-hydroxyalkanoates ranging from C₆ to C₁₄, with C₈ and C₁₀ as the predominant components. The nature of the carbon sources used had little influence on the composition, but was found to be important in determining the average molecular weight, shorter chain fatty acids yielding higher molecular weight products. Fast Atom Bombardment-Mass Spectrometry (FAB-MS) of partially pyrolyzed samples, coupled to statistical analysis, showed that these PHAs are random copolymers.     

A multi-objective approach to solid waste management

The issue addressed in this paper consists in the localization and dimensioning of transfer stations, which constitute a necessary intermediate level in the logistic chain of the solid waste stream, from municipalities to the incinerator. Contextually, the determination of the number and type of vehicles involved is carried out in an integrated optimization approach. The model considers both initial investment and operative costs related to transportation and transfer stations. Two conflicting objectives are evaluated, the minimization of total cost and the minimization of environmental impact, measured by pollution. The design of the integrated waste management system is hence approached in a multi-objective optimization framework. To determine the best means of compromise, goal programming, weighted sum and fuzzy multi-objective techniques have been employed. The proposed analysis highlights how different attitudes of the decision maker towards the logic and structure of the problem result in the employment of different methodologies and the obtaining of different results. The novel aspect of the paper lies in the proposal of an effective decision support system for operative waste management, rather than a further contribution to the transportation problem. The model was applied to the waste management of optimal territorial ambit (OTA) of Palermo (Italy).     

Urban Mining: Quality and quantity of recyclable and recoverable material mechanically and physically extractable from residual waste

The mechanically sorted dry fraction (MSDF) and Fines (<20 mm) arising from the mechanical biological treatment of residual municipal solid waste (RMSW) contains respectively about 11% w/w each of recyclable and recoverable materials. Processing a large sample of MSDF in an existing full-scale mechanical sorting facility equipped with near infrared and 2-3 dimensional selectors led to the extraction of about 6% w/w of recyclables with respect to the RMSW weight. Maximum selection efficiency was achieved for metals, about 98% w/w, whereas it was lower for Waste Electrical and Electronic Equipment (WEEE), about 2% w/w. After a simulated lab scale soil washing treatment it was possible to extract about 2% w/w of inert exploitable substances recoverable as construction materials, with respect to the amount of RMSW. The passing curve showed that inert materials were mainly sand with a particle size ranging from 0.063 to 2 mm. Leaching tests showed quite low heavy metal concentrations with the exception of the particles retained by the 0.5 mm sieve. A minimum pollutant concentration was in the leachate from the 10 and 20 mm particle size fractions.     

New frontiers for sustainability: emergy evaluation of an eco-village

The emergy analysis was used to evaluate the sustainability of a village which aims to be ecologically friendly. The choice of focusing on the use of local resources including agriculture and farm goods, photovoltaic panels, renewable heating and cooling systems, recycled water from constructed wetlands etc., aims to obtain a sustainable village. Indices and ratios based on emergy flows have been calculated and used to evaluate the behaviour of the whole system. Their dependence upon the fraction of renewable and non renewable inputs as well as locally available versus purchased inputs from outside is stressed. A new index of sustainability (SI) is also applied to the case study. Readers should send their comments on this paper to BhaskarNath@aol.com within 3 months of publication of this issue.     

Modelling dispersion of traffic pollution in a deep street canyon: Application of CFD and operational models

In this study, numerical modelling of the flow and concentration fields has been undertaken for a deep street canyon in Naples (Italy), having aspect ratio (i.e. ratio of the building height H to the street width W) H/W = 5.7. Two different modelling techniques have been employed: computational fluid dynamics (CFD) and operational dispersion modelling. The CFD simulations have been carried out by using the RNG k–? turbulence model included in the commercial suite FLUENT, while operational modelling has been conducted by means of the WinOSPM model. Concentration fields obtained from model simulations have been compared with experimental data of CO concentrations measured at two vertical locations within the canyon. The CFD results are in good agreement with the experimental data, while poor agreement is observed for the WinOSPM results. This is because WinOSPM was originally developed and tested for street canyons with aspect ratio H/W ≌ 1. Large discrepancies in wind profiles simulated within the canyon are observed between CFD and OSPM models. Therefore, a modification of the wind profile within the canyon is introduced in WinOSPM for extending its applicability to deeper canyons, leading to an improved agreement between modelled and experimental data. Further development of the operational dispersion model is required in order to reproduce the distinct air circulation patterns within deep street canyons.     

Application of Two Quality Indices as Monitoring and Management Tools of Rivers. Case Study: The Imera Meridionale River, Italy

On the basis of the European Water Framework Directive (2000/60), the water resources of the member states of the European Community should reach good quality standards by 2015. Although such regulations illustrate the basic points for a comprehensive and effective policy of water monitoring and management, no practical tools are provided to face and solve the issues concerning freshwater ecosystems such as rivers. The Italian government has developed a set of regulations as adoption of the European Directive but failed to indicate feasible procedures for river monitoring and management. On a local scale, Sicilian authorities have implemented monitoring networks of watersheds, aiming at describing the general conditions of rivers. However, such monitoring programs have provided a relatively fragmentary picture of the ecological conditions of the rivers. In this study, the integrated use of environmental quality indices is proposed as a methodology able to provide a practical approach to river monitoring and management. As a case study, the Imera Meridionale River, Sicily’s largest river, was chosen. The water quality index developed by the U.S. National Sanitation Foundation and the floristic quality index based on the Wilhelm method were applied. The former enabled us to describe the water quality according to a spatial–temporal gradient, whereas the latter focused on the ecological quality of riparian vegetation. This study proposes a holistic view of river ecosystems by considering biotic and abiotic factors in agreement with the current European regulations. How the combined use of such indices can guide sustainable management efforts is also discussed.     

The benefits of flue gas recirculation in waste incineration

Flue gas recirculation in the incinerator combustion chamber is an operative technique that offers substantial benefits in managing waste incineration. The advantages that can be obtained are both economic and environmental and are determined by the low flow rate of fumes actually emitted if compared to the flue gas released when recirculation is not conducted. Simulations of two incineration processes, with and without flue gas recirculation, have been carried out by using a commercial flowsheeting simulator. The results of the simulations demonstrate that, from an economic point of view, the proposed technique permits a greater level of energy recovery (up to +3%) and, at the same time, lower investment costs as far as the equipment and machinery constituting the air pollution control section of the plant are concerned. At equal treatment system efficiencies, the environmental benefits stem from the decrease in the emission of atmospheric pollutants. Throughout the paper reference is made to the EC legislation in the field of environmental protection, thus ensuring the general validity in the EU of the foundations laid and conclusions drawn henceforth. A numerical example concerning mercury emission quantifies the reported considerations and illustrates that flue gas recirculation reduces emission of this pollutant by 50%.