Noninvasive prenatal testing creates an opportunity for antenatal treatment of Down syndrome

Trisomy 21 (T21) is the most common autosomal aneuploidy that is associated with intellectual disability. It is the focus of many prenatal screening programs across the globe. Pregnant women who receive a prenatal diagnosis of T21 in their fetus currently have the option of continuing or terminating their pregnancy, but no fetal treatment is available. In this paper, we review compelling morphogenetic, cellular, and molecular studies that, taken together, suggest that there is an important window of opportunity during fetal life to positively impact brain development to improve postnatal neurocognition and behavior. Although substantial progress has been made in understanding the basic neurobiology of Down syndrome (DS), the majority of pre-clinical trials is currently focused on adults. There are a number of challenges in the identification and development of novel antenatal therapies for DS, including the lack of toxicity and teratogenicity for the pregnant woman and the fetus, evidence that the compounds can cross the placenta and achieve therapeutic levels, and the demonstration of clinical improvement. Preliminary experiments in mouse models suggest that prenatal treatment of DS is an achievable goal. © 2013 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.     

Confined placental mosaicism for 22q11.2 deletion as the etiology for discordant positive NIPT results

22q11.2 deletion, the most common microdeletion syndrome within the general population, is estimated to have a prevalence of 1 in 3000 to 6000. Non-invasive prenatal testing has recently expanded to include screening for several microdeletions including 22q11.2. Given the expansion of prenatal screening options to include microdeletions, it is important to understand the limits of this technology and the variety of reasons that a discordant positive result can occur. Here, we describe a case of a pregnant woman who received a positive non-invasive prenatal maternal plasma screen for 22q11.2 deletion. Maternal and postnatal neonatal peripheral blood cytogenetic, PCR, and fluorescence in situ hybridization studies were normal, but the placenta was mosaic for 22q11.2 deletion in two of three biopsy sites. This case illustrates both the complexities of pre- and post-test counseling for microdeletion screening and the potential for a discordant positive microdeletion result because of confined placental mosaicism. © 2017 John Wiley & Sons, Ltd.     

Container vs. dacha: The psychological effects of temporary housing characteristics on earthquake survivors

This research investigated whether the psychological wellbeing of earthquake survivors two years after the traumatic event would vary as a function of type of temporary housing. A comparison of people assigned to containers, converted into mobile homes, vs. wooden dachas vs. a control group, that had not lost their homes in the earthquake, revealed reliable effects of housing type. Compared to those in containers, earthquake victims assigned to dachas were more satisfied with and more attached to their temporary homes and reported greater psychological wellbeing (fewer psychological stress symptoms, less discomfort and a lesser feeling of being dominated by the situation). Also, home attachment and satisfaction with one's home mediated the psychological wellbeing, suggesting that the attitudes towards different types of temporary housing play a causal role in post-traumatic stress reactions. Practical implications for emergency interventions following natural disasters are discussed.     

Persistent pollutants and the patchiness of urban green areas as drivers of genetic richness in the epiphytic moss Leptodon smithii

We determined genetic variation and metal and polycyclic aromatic hydrocarbon concentrations in Leptodon smithii moss collected in holm oak stands at cities, outskirts and remote areas of Campania and Tuscany（Italy） to investigate if anthropogenic pressure（pollutant emissions and land use change） affects moss genetic richness. In both regions, metal and polycyclic aromatic hydrocarbon concentrations reflected the trend urban 〉 outskirts 〉 remote areas, excepting Tuscany remote site. In both regions,the moss gene diversity increased from urban to remote areas. The findings suggest the extent and the fragmentation of urban green areas, as drivers of moss genetic richness.     

Pyrimethanil residues on table grapes Italia after field treatment

Residues of the pyrimidine fungicide pyrimethanil [N-(4,6-dimethylpyrimidin-2yl)aniline] were determined in table grapes "Italia" by gas chromatography nitrogen-phosphorus detector (GC-NPD). Pesticides were extracted from grapes with ethyl acetate and hexane solution (1:1 v/v), and were analyzed without any further clean up. Pyrimethanil was confirmed by high-performance liquid chromatography (HPLC) fitted with a diode array detector (DAD) and electrospray ionization mass spectrometry (ESI-MS) in the select ion-monitoring mode (SIM). The residue of pyrimethanil was under the legal limit immediately after treatment, and showed a half-life time, calculated as a reaction of pseudo first order, of 12 days, with a regression coefficient of 0.9954. Recoveries from fortified grapes ranged between 90 and 113% with a maximum coefficient of variation (CV) of 11%. The calculated limits of detection and quantitation for pyrimethanil were 0.005 and 0.01 mg/kg, respectively.