Prenatal diagnosis of X-linked retinitis pigmentosa (RP) in five pregnancies at risk

Five pregnancies at risk for X-linked retinitis pigmentosa (RP) have been monitored by first-trimester prenatal diagnosis using DNA markers flanking the RP2 and RP3 loci. Three affected and two unaffected fetuses, including a female carrying a wild-type genotype, were predicted on the basis of marker segregation and estimation of the recombination fraction.     

Azo-dyes photocatalytic degradation in aqueous suspension of TiO2 under solar irradiation

The photodegradation of two common and very stable azo-dyes, i.e. methyl-orange (C₁₄H₁₄N₃SO₃Na) and orange II (C₁₆H₁₁N₂SO₄Na), is reported. The photocatalytic oxidation was carried out in aqueous suspensions of polycrystalline TiO₂ irradiated by sunlight. Compound parabolic collectors, installed at the “Plataforma Solar de Almería” (PSA, Spain) were used as the photoreactors and two identical reacting systems allowed to perform photoreactivity runs for the two dyes at the same time and under the same irradiation conditions. The disappearance of colour and substrates together with the abatement of total organic carbon content was monitored. The main sulfonate-containing intermediates were found to be in lower number in respect to those obtained under artificial irradiation. In particular there were no more evidence of the presence of hydroxylated transients. The dependence of dye photooxidation rate on: (i) substrate concentration; (ii) catalyst amount; and (iii) initial pH was investigated. The influence of the presence of strong oxidant species (H₂O₂, S₂O₈²⁻) and some ions (Cl⁻, SO₄²⁻) on the process was also studied.     

Chlorinated herbicide (triallate) dehalogenation by iron powder

The reductive degradation of a chlorinated herbicide by iron powder was investigated at lab scale. The studied substrate was triallate (S-2,3,3-trichloroallyl di-isopropyl thiocarbamate) which contains a trichloroethylene moiety potentially reducible by zero-valent iron. Degradation reactions were carried out in batch, at 25 degrees C, in the absence of oxygen, by contacting electrolytic iron powder (size range: 20-50 microm) with a triallate aqueous solution (2.5 mgl(-1)). Herbicide decay, corresponding evolutions of TOC, TOX and chloride ion release were regularly monitored throughout the reactions. Furthermore, the main degradation by-products were identified by HPLC/MS. The results showed that, after 5 days, herbicide degradation extent was about 97% and that the reaction proceeded through the formation of a dechlorinated alkyne by-product (S-2-propinyl di-isopropyl thiocarbamate) resulting from the complete dechlorination of triallate. The subsequent reduction of such an alkyne intermediate gave S-allyl di-isopropyl thiocarbamate as main end by-product. The identified by-products suggested that dechlorination took place mainly via reductive beta-elimination. However, as traces of dichloroallyl di-isopropyl thiocarbamate were also detected, a role, although minor, was assigned even to hydrogenolysis in the overall dechlorination process.     

Testing the extended biotic index in Slovakia: consistency, advantages, and limitations versus the saprobic assessment method of water quality.

The European Union Water Framework Directive requires the achievement of environmental objectives for the ecological quality of water bodies. A comparable implementation of the Directive throughout member countries of the European Union is necessary to verify equal protection of surface waters. The Directive specifies that member states determine ecological quality by means of biological indices. To improve comparability of water quality assessment, this research carried out an intercalibration trial between the Slovak Saprobic Index and the Italian protocol of the Extended Biotic Index, as part of a cooperative program between Italy and the Slovak Republic. When assessing streams with no or low pollution, statistics showed similar results for both methods. In contrast, the comparison of indices was not accurate in the case of severely affected waters. Reliable conversion formulas are feasible to transform the Italian Extended Biotic Index into the Slovak Saprobic Index, and not vice versa.     

Spatial error propagation when computing linear combinations of spectral bands: The case of vegetation indices

The collection of accurate and timely information on land use, crops, forest and vegetation are increasingly based on remote sensing spectral measurements produced by satellites. The most recent spacecrafts like the Earth Observing 1 (EO-1) produce a rich source of information being endowed with hyperspectral sensors that can provide up to 200 or more channels. In many instances such a multivariate signal has to be reduced to just one single value per pixel representing a particular characteristic of land. Linear combinations of bands are the general form of many indices. Since each individual image used to construct indices contains errors, when combined they produce a propagation of errors, a process that can distort a final output map. In this paper we measure the extent of error propagation when building linear vegetation indices. We consider three types of indices: the difference vegetation index (DVI), selected Kauth-Thomas indices (SBI, GVI and WET), and principal components, using benchmarking examples taken from the remote sensing literature. The main implication emerging from these examples is that the SBI and the first principal component are the indices more prone to error propagation. The formalization presented here allows a user to derive measures of error propagation in cases where technical characteristics of a sensor and physical characteristics of a landscape are known. These results can help a user to choose between alternative vegetation indices, and to associate a measure of reliability with such indices.     

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).