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.     

Degradation kinetics of butyltin compounds during the bioremediation of contaminated harbour sediments

The present study was aimed at the reclamation of harbour sediments contaminated with butyltin compounds (BTCs) by means of biostimulation and/or bioaugmentation experiments carried out in a 5-L slurry bioreactor. In the biostimulation experiment with inorganic nutrients, almost 50% of TBT was degraded in 20 weeks. In the bioaugmentation experiment with a microbial consortium, no significant degradation of TBT was observed. Conversely, bioaugmentation combined with biostimulation led to a decrease of ～50% in TBT after four weeks. A simple kinetic model fitted to the experimental data of BTC concentration allowed us to estimate that 10 weeks are needed to decrease BTC contamination by 90% using a strategy based on both biostimulation and bioaugmentation, and 29 weeks for a strategy using biostimulation only. Overall, our study indicates that strategies based on biostimulation coupled to bioaugmentation can be effective in significantly reducing the concentration of BTCs over relatively short timescales.