Duplication of 9 p11.2-p13.1: a benign cytogenetic variant

The detection of very rare variants in prenatal diagnosis often causes counseling difficulties and anxiety in parents. We describe a duplication of the proximal region of chromosome 9 short arm in two cases of prenatal diagnosis and in one young woman, with evidence that such rearrangement is an uncommon variant. The duplication was investigated using Fluorescence in situ hybridization (FISH). Although the cytogenetic findings were indicative of a ‘duplication 9p syndrome’ associated with mental and developmental retardation, we were able to demonstrate that the rearrangement was a heteromorphism with no phenotypic consequence. We also determined the breakpoint regions of the rearrangement and identified the BAC probes that precisely define the duplicated region devoid of risk of phenotypic effects. Copyright © 2004 John Wiley & Sons, Ltd.     

Organic chloramines in chlorine-based disinfected watersystems: A critical review

This paper is a critical review of current knowledge of organic chloramines in water systems,including their formation, stability, toxicity, analyticalmethods for detection, and their impact on drinking water treatment and quality. The term organic chloramines may refer to any halogenated organic compounds measured as part of combined chlorine (the difference between themeasured free and total chlorine concentrations), andmay include N-chloramines, N-chloramino acids, N-chloraldimines and N-chloramides. Organic chloramines can form when dissolved organic nitrogen or dissolved organic carbon react with either free chlorine or inorganic chloramines. They are potentially harmful to humans and may exist as an intermediate for other disinfection by-products. However, little information is available on the formation or occurrence of organic chloramines in water due to a number of challenges. One of the biggest challenges for the identification and quantification of organic chloramines in water systems is the lack of appropriate analytical methods. In addition, many of the organic chloramines that formduring disinfection are unstable,which results in difficulties in sampling and detection. To date research has focussed on the study of organic monochloramines. However, given that breakpoint chlorination is commonly undertaken in water treatment systems, the formation of organic dichloramines should also be considered. Organic chloramines can be formed frommany different precursors and pathways. Therefore, studying the occurrence of their precursors in water systems would enable better prediction and management of their formation.     

Economy-wide impacts of climate change: a joint analysis for sea level rise and tourism

While climate change impacts on human life have well defined and different origins, the interactions among the diverse impacts are not yet fully understood. Their final effects, however, especially those involving social-economic responses, are likely to play an important role. This paper is one of the first attempts to disentangle and highlight the role of these interactions. It focuses on the economic assessment of two specific climate change impacts: sea-level rise and changes in tourism flows. By using a Computable General Equilibrium (CGE) model the two impacts categories are first analysed separately and then jointly. Considered separately, in 2050, the forecasted 25 cm. of sea level rise imply a GDP loss ranging from (−) 0.1% in South East Asia to almost no loss in Canada, while redistribution of tourism flows – which in terms of arrivals favours Western Europe, Japan, Korea and Canada and penalises all the other world regions – triggers GDP losses ranging from (−) 0.5% in Small Island States to (−) 0.0004% in Canada. GDP gainers are Australia, New Zealand, Western Europe, Middle East and South Asia. The impact of sea level rise and tourism were simulated jointly and the results compared with those of the two disjoint simulations. From a qualitative point of view, the joint effects are similar to the outcomes of the disjoint exercises; from a quantitative perspective, however, impact interaction does play a significant role. In six cases out of 16 there is a detectable (higher than 2% and peaking to 70%) difference between the sum of the outcomes in the disjoint simulation and the outcomes of the joint simulations. Moreover, the relative contribution of each single impact category has been disentangled from the final result. In the case under scrutiny, demand shocks induced by changes in tourism flows outweigh the supply-side shock induced by the loss of coastal land.

The effect of larval and early adult experience on behavioural plasticity of the aphid parasitoid <Emphasis Type="Italic">Aphidius ervi</Emphasis> (Hymenoptera,Braconidae, Aphidiinae)

The relevance of the integration of preimaginal and eclosion experiences on the subsequent habitat preferences and mate finding by the adult has been rarely tested in holometabolous insects. In this work, the effect of larval and early adult experiences on the behavioural responses of adult males of the aphid parasitoid, Aphidius ervi, towards volatiles from the host–plant complex (HPC) and from conspecific females were evaluated. Two experience factors were considered: host diet (normal diet=ND; artificial diet=AD), and eclosion, i.e. extraction or non-extraction of the parasitoid larva from the parasitised aphid (extracted=EX; non-extracted=NE). Thus, four treatments were set up: ND/NE, ND/EX, AD/NE and AD/EX. Glass Y-tube olfactometers were used to investigate the responses of adult A. ervi males to the odour sources used. Males from the ND/NE treatment showed a shorter latency to the first choice of olfactometer arms, displayed a marked preference towards the HPC olfactometer arm, and spent more time in the HPC arm than males from the other treatments. Only the interaction of host diet and eclosion experiences proved to be relevant in explaining the differences in latency to first choice, time spent in olfactometers arms, and behaviours displayed in the olfactometer arms. These results show the importance of the integration of larval and eclosion experiences in the development of stereotyped responses of the adults. This process may involve memory retention from the preimaginal and emergence period, but further research is needed to disentangle the contribution of each stage. The response to conspecific females was much less affected by the treatments in relation to first arm choice and times in olfactometer arms, suggesting a pheromone-mediated behaviour, even though a prompter and more intense wing fanning courtship behaviour was registered in the ND/NE males compared to males from the AD/NE treatment. These results show that sexual behaviours are less affected by early experiences than behaviours related with finding a HPC for foraging or oviposition. Taken together, our results demonstrate for first time that larval and eclosion experiences affect in a differential way the early responses of the adult towards environment-derived cues and mate related cues.     

Extremophiles: from abyssal to terrestrial ecosystems and possibly beyond

The anthropocentric term “extremophile” was introduced more than 30 years ago to describe any organism capable of living and growing under extreme conditions—i.e., particularly hostile to human and to the majority of the known microorganisms as far as temperature, pH, and salinity parameters are concerned. With the further development of studies on microbial ecology and taxonomy, more “extreme” environments were found and more extremophiles were described. Today, many different extremophiles have been isolated from habitats characterized by hydrostatic pressure, aridity, radiations, elevated temperatures, extreme pH values, high salt concentrations, and high solvent/metal concentrations, and it is well documented that these microorganisms are capable of thriving under extreme conditions better than any other organism living on Earth. Extremophiles have also been investigated as far as the search for life in other planets is concerned and even to evaluate the hypothesis that life on Earth came originally from space. Extremophiles are interesting for basic and applied sciences. Particularly fascinating are their structural and physiological features allowing them to stand extremely selective environmental conditions. These properties are often due to specific biomolecules (DNA, lipids, enzymes, osmolites, etc.) that have been studied for years as novel sources for biotechnological applications. In some cases (DNA polymerase, thermostable enzymes), the search was successful and the final application was achieved, but certainly further exploitations are next to come.     

Sustainable mechanochemical synthesis of β-cyclodextrin polymers by twin screw extrusion

Environmental Science and Pollution Research - Cyclodextrin nanosponges (CD-NS) are cross-linked cyclodextrin polymers characterized by a nanostructured three-dimensional network. CD-NSs in the...     

Brain cortical assessment by MRI in fetuses with left congenital diaphragmatic hernia

Objective

To evaluate fetal brain development using MRI (magnetic resonance imaging) in CDH (congenital diaphragmatic hernia).

Methods

52 isolated left CDH and 104 control fetuses were imaged using MRI. Brain morphometry (Biparietal diameter—BPD, brain fronto-occipital diameter—BFOD, third ventricle, posterior ventricles, transcerebellar diameter—TCD, anteroposterior and craniocaudal cerebellar vermis diameter—AP and CC) and cortical structures (bilateral cingulate fissure—CF, insular fissure—IF, insular depth - ID) were compared with controls using Mann–Whitney test.

Results

Median gestational age at MRI (p = 0.95)and the median biparietal diameter (p = 0.737) were comparable. Among morphometric parameters, only the brain fronto-occipital diameter was significantly smaller in CDH (p = 0.001) and the third ventricle was significantly greater in CDH (<0.0001). Among cortical structures, the cingulate and insular fissures were significantly deeper in CDH fetuses (p < 0.0001) as the insular depth ID was smaller in CDH (p < 0.03).

Conclusions

CDH fetuses have a smaller fronto-occipital diameter, reduced insular depth, deeper cingulate and insular fissure, and greater third ventricle width as compared to controls. These findings suggest that left CDH may have an impact on fetal brain development with an overall reduction in brain volume.     

Multitechnique diagnostic analysis and 3D surveying prior to the restoration of St. Michael defeating Evil painting by Mattia Preti

Environmental Science and Pollution Research - In this study, a multimethodological analysis involving optical and physical/chemical diagnostic techniques and 3D photogrammetric survey was...     

Multivariate tools to investigate the spatial contaminant distribution in a highly anthropized area (Gulf of Naples,Italy)

Environmental Science and Pollution Research - The Gulf of Naples located in a high anthropized coastal area is subjected to an infrastructural intervention for the installation of a submarine...     

The interaction between environmental pollution and cultural heritage: from outdoor to indoor “MetroArcheo2020”

Environmental Science and Pollution Research -