Chromosomal mosaicism: Origins and clinical implications in preimplantation and prenatal diagnosis

The diagnosis of chromosomal mosaicism in the preimplantation and prenatal stage is fraught with uncertainty and multiple factors need to be considered in order to gauge the likely impact. The clinical effects of chromosomal mosaicism are directly linked to the type of the imbalance (size, gene content, and copy number), the timing of the initial event leading to mosaicism during embryogenesis/fetal development, the distribution of the abnormal cells throughout the various tissues within the body as well as the ratio of normal/abnormal cells within each of those tissues. Additional factors such as assay noise and culture artifacts also have an impact on the significance and management of mosaic cases. Genetic counseling is an important part of educating patients about the likelihood of having a liveborn with a chromosome abnormality and these risks differ according to the time of ascertainment and the tissue where the mosaic cells were initially discovered. Each situation needs to be assessed on a case-by-case basis and counseled accordingly. This review will discuss the clinical impact of finding mosaicism through: embryo biopsy, chorionic villus sampling, amniocentesis, and noninvasive prenatal testing using cell-free DNA.     

Cuticular hydrocarbons and reproductive status in the social wasp Polistes dominulus

Most species of social insect are characterized by a reproductive division of labor among morphologically specialized individuals. In contrast, there exist many species where all individuals are morphologically identical and dominance relationships determine which individuals mate and/or reproduce. In newly founded multiple-foundress associations of the social wasp Polistes dominulus, foundresses establish dominance hierarchies where the top-ranked (alpha) female monopolizes egg laying. The possibility that chemical cues are used for recognition of egg-laying individuals has not been explored in this wasp. Using non-destructive techniques, we examined the relationship between ovarian activity and the proportions of cuticular hydrocarbons of three female types (dominant and subordinate foundresses and workers) in 11 colonies. Immediately after nest foundation, no differences were found between alpha and subordinate females. In contrast, at worker emergence, alpha females were statistically distinguishable from both subordinates and workers. We experimentally removed the alpha female in 5 of the original nests and reanalyzed hydrocarbon proportions of the new dominant individual. Replacement individuals were all found to acquire a cuticular signature characteristic of the alpha female. This suggests that cuticular hydrocarbons are used as cues of ovarian activity in P. dominulus, and we discuss our results in terms of a switch from behavioral dominance to chemical signaling in this wasp.     

Spatial and temporal distribution of atmospheric mercury species over the Adriatic Sea

Field measurements of atmospheric mercury and related species were carried out during an intensive cruise campaign performed over the Adriatic sea from October 26th to November 12th, 2004 on board the R/V Urania. Hg⁰ ranged between 0.8 and 3.3 ng/m³ with an average of 1.6 ± 0.4 ng/m³ over the entire period. Hg(II) concentrations ranged from 0.1 to 62.8 pg/m³ with an average of 6.7 ± 11.7 pg/m³ whereas Hg-p levels were in a range of 0.04 and 51 pg/m³ with an average of 4.5 ± 8 pg/m³. Higher Hg⁰ and Hg-p concentrations were observed in the Gulf of Venice and Gulf of Trieste due primarily to air masses transported from the mainland reflecting the contribution from anthropogenic sources. In contrast, higher Hg(II) concentrations observed during the first period of the cruise campaign were likely due to the occurrence of photo-oxidants production which are the main players of the gas phase oxidation of to Hg(II)_(g). These findings have been confirmed by the backward trajectories analysis of air masses crossing the studied area during selected days.     

Understanding the interacting factors that influence social vulnerability: a case study of the 2016 central Italy earthquake

This paper seeks to identify those areas that proved socially vulnerable to the earthquake that struck central Italy on 24 August 2016. The study involved four key steps. First, six relevant social vulnerability indicators were selected, based on previous conclusions in the literature. Second, the indicators were mapped using the inverse distance weighted interpolation method. Third, social vulnerability was assessed according to a spatial combination of the indicators. Fourth, in order to build a heterogeneity map, another approach was employed to represent the spatial variability of social vulnerability and to provide additional information on the synergistic contributions of the indicators. The results indicate that age and accessibility indicators affect the entire region under review, with highly vulnerable zones being close to small historical centres. These findings will be useful to governments, policymakers, and stakeholders with regard to implementing vulnerability mitigation strategies in Italian territories that are highly susceptible to earthquake hazards.     

Bisphenol A endocrine disruptor complete degradation using TiO2 photocatalysis with ozone

Bisphenol A is an endocrine disruptor. Complete mineralization of bisphenol A is therefore a primary environmental issue. Here, the combination of ozonation and photocatalysis by TiO₂ is proposed for the degradation and final mineralization of bisphenol A. TiO₂ films deposited onto two sides of an Al lamina show good stability and high surface roughness. We used a specific experimental setup employing two facing ultraviolet lamps and TiO₂ layers, together with an ozone flux. High-performance liquid chromatography–mass spectrometry determinations on bisphenol A solutions sampled at different reaction times and Fourier Transform Infrared analyses of the oxide at the end of the reaction were performed to study the reaction intermediates and the overall degradation mechanism. Our results show that pollutant mineralization achieved with the combined method is far higher, of 55% in the case of 0.3 mM bisphenol A, than those obtained by individual treatments such as photolysis (<3%), ozonation (6%), photocatalysis (6%), and by other combined processes: photolytic ozonation (13%) and catalytic ozonation (15%). This finding is explained by the occurrence of highly synergistic effects.     

Lower genetic diversity in the limpet <Emphasis Type="Italic">Patella caerulea</Emphasis> on urban coastal structures compared to natural rocky habitats

Human-made structures are increasingly found in marine coastal habitats. The aim of the present study was to explore whether urban coastal structures can affect the genetic variation of hard-bottom species. We conducted a population genetic analysis on the limpet Patella caerulea sampled in both natural and artificial habitats along the Adriatic coast. Five microsatellite loci were used to test for differences in genetic diversity and structure among samples. Three microsatellite loci showed strong Hardy–Weinberg disequilibrium likely linked with the presence of null alleles. Genetic diversity was significantly higher in natural habitat than in artificial habitat. A weak but significant differentiation over all limpet samples was observed, but not related to the type of habitat. While the exact causes of the differences in genetic diversity deserve further investigation, these results clearly point that the expansion of urban structures can lead to genetic diversity loss at regional scales.     

Trophic specialisation of metazoan meiofauna at the Håkon Mosby Mud Volcano: fatty acid biomarker isotope evidence

We report the results of a detailed investigation on the trophoecology of two dominant meiofaunal species at the Håkon Mosby Mud Volcano (HMMV), a deep-sea cold methane-venting seep. Analyses of fatty acids (FAs) and their stable carbon isotopes were used to determine the importance of chemosynthetic nutritional pathways for the dominant copepod species (morphologically very similar to Tisbe wilsoni) inhabiting the volcano’s centre and the abundant nematode Halomonhystera disjuncta from the surrounding microbial mats. The strong dominance of bacterial biomarkers (16:1ω7c, 18:1ω7c and 16:1ω8c) coupled with their individual light carbon isotopes signatures (δ¹³C ranging from ?52 to ?81‰) and the lack of symbiotic relationships with prokaryotes (as revealed by molecular analyses and fluorescent in situ hybridisation) indicated that chemosynthetically derived carbon constitutes the main diet of both species. However, the copepod showed a stronger reliance on the utilisation of methanotrophic bacteria and contained polyunsaturated FAs of bacterial origin (20:5ω3 and 22:6ω3 with isotope signatures δ¹³C < ?80‰). Instead, the FA profiles of H. disjuncta suggested that sulphide-oxidising bacteria constituted the main diet of this nematode. Therefore, HMMV can be regarded as a persistent deep-sea cold seep, allowing a chemosynthesis-based trophic specialisation by the dominant meiofaunal species inhabiting its sediments. The present investigation, through the determination of the fatty acid profiles, provides the first evidence for trophic specialisation of meiofauna associated with sub-habitats within a cold seep.     

Urban atmospheric pollution: personal exposure versus fixed monitoring station measurements

We initiated the PETER (pedestrian environmental traffic pollutant exposure research) project to investigate pedestrians' exposure to traffic related atmospheric pollutants, based on data obtained with the collaboration of selected categories of pedestrian urban workers. We investigated relations between roadside personal exposure levels of volatile aromatic hydrocarbons (including benzene) and particulate matter <10 microm (PM10) among traffic police (n = 126) and parking wardens (n = 50) working in downtown Bologna, Italy. Data were collected from workshifts throughout four 1-week periods in different seasons of 2000-2001. For benzene and PM10, comparisons were made with measurements by fixed monitoring stations, and influence of localized traffic intensity and meteorological parameters was examined. Roadside personal exposure to benzene correlated more strongly with other volatile aromatic hydrocarbons (toluene, xylenes and ethylbenzene) than with PM10. Benzene and PM10 personal exposure levels were higher than fixed monitoring station values (both p<0.0001). At multivariate analysis, benzene and PM10 data from fixed monitoring stations both correlated with meteorological variables, and were also influenced by localized traffic intensity. Plausibly because of the downtown canyon-like streets, weather conditions (during a period of drought) only marginally affected benzene personal exposure, and moderately affected PM10 personal exposure. These findings reinforce the concept that urban atmospheric pollution data from fixed air monitoring stations cannot automatically be taken as indications of roadside exposures.