Phase diagram of mixtures of colloids and polymers in the thermal crossover from good to θ\theta solvent

We determine the phase diagram of mixtures of spherical colloids and neutral nonadsorbing polymers in the thermal crossover region between the $\theta$ point and the good-solvent regime. We use the generalized free-volume theory (GFVT), which turns out to be quite accurate as long as $q = R_g/R_c\lesssim 1$ ($R_g$ is the radius of gyration of the polymer and $R_c$ is the colloid radius). Close to the $\theta$ point the phase diagram is not very sensitive to solvent quality, while, close to the good-solvent region, changes of the solvent quality modify significantly the position of the critical point and of the binodals. We also analyze the phase behavior of aqueous solutions of charged colloids and polymers, using the extension of GFVT proposed by Fortini et al., J. Chem. Phys. 128, 024904 (2008)

A comparison of environmental and energetic performance of European countries: A sustainability index

Recently, European countries agreed on a new 2030-pact establishing challenging levels for a set of climate and energy indexes in order to achieve a more competitive, safe and sustainable energy system. In order to evaluate current sustainability performances of European countries from the environmental and energetic perspectives, this research proposes a Multi-Criteria Decision Analysis (MCDA) that, starting from both Eurostat data and the Analytic Hierarchy Process (AHP), allows a direct comparison of nations. To this aim, multiple indexes are taken into account (e.g. Greenhouse gas (GHG) emissions, Government expenditures for environmental protection, Recycled and reused waste from electric and electronic equipments (WEEEs), Recycled and reused waste from end-of-life vehicles (ELVs), Recycled materials from Municipal Solid Wastes (MSWs), Share of renewable energy (RE) in electricity, Share of RE in transport, Share of RE in heating and cooling and Primary energy consumption). This assessment model provides a sustainability value for each European country and the related ranking with the European average. Results show as, even nowadays, twelve out of twenty-eight European countries have a value greater than the European average in 2013. Top four nations (Sweden, Denmark, Finland and Austria) have high indexes of sustainability and Sweden is the best country from both the environmental and energetic perspectives

A profitability assessment of European recycling processes treating printed circuit boards from waste electrical and electronic equipments

The management of waste electrical and electronic equipment (WEEE) is a well-stressed topic in the scientific literature. However, (i) the amount of cash flows potentially reachable, (ii) the future profitability trends and (iii) the reference mix of treated volumes guaranteeing a certain profitability level are not so clear, and related data are unrecoverable. The purpose of the paper is to fill in this gap by identifying the presence of profitability within the recovery process of waste printed circuit boards (WPCBs) embedded in WEEE. Net present value (NPV) and discounted payback time (DPBT) are used as reference indexes for the evaluation of investments. In addition, a sensitivity analysis of critical variables (plant saturation level, materials content, materials market prices, materials final purity level and WPCBs purchasing and opportunity costs) demonstrates the robustness of the results. Furthermore, the calculation of the national NPV for each of the twenty-eight European nations (in function of both WPCB mix and generated volumes) and the matching of predicted WPCB volumes (within the 2015–2030 period) and NPV quantify potential advantages. The break even point of gold allowing some profits from selected recovery plants goes from 73 to 93 ppm per WPCB ton, for mobile and field plants, respectively. Finally, the overall European values go from 2404 million € (mobile plant) to 4795 million € (field plant) in 2013, with Germany and United Kingdom as reference nations

Haploinsufficiency as a Foreground Pathomechanism of Poirer-Bienvenu Syndrome and Novel Insights Underlying the Phenotypic Continuum of CSNK2B-Associated Disorders

CSNK2B encodes for the regulatory subunit of the casein kinase II, a serine/threonine kinase that is highly expressed in the brain and implicated in development, neuritogenesis, synaptic transmission and plasticity. De novo variants in this gene have been identified as the cause of the Poirier-Bienvenu Neurodevelopmental Syndrome (POBINDS) characterized by seizures and variably impaired intellectual development. More than sixty mutations have been described so far. However, data clarifying their functional impact and the possible pathomechanism are still scarce. Recently, a subset of CSNK2B missense variants affecting the Asp32 in the KEN box-like domain were proposed as the cause of a new intellectual disability-craniodigital syndrome (IDCS). In this study, we combined predictive functional and structural analysis and in vitro experiments to investigate the effect of two CSNK2B mutations, p.Leu39Arg and p.Met132LeufsTer110, identified by WES in two children with POBINDS. Our data prove that loss of the CK2beta protein, due to the instability of mutant CSNK2B mRNA and protein, resulting in a reduced amount of CK2 complex and affecting its kinase activity, may underlie the POBINDS phenotype. In addition, the deep reverse phenotyping of the patient carrying p.Leu39Arg, with an analysis of the available literature for individuals with either POBINDS or IDCS and a mutation in the KEN box-like motif, might suggest the existence of a continuous spectrum of CSNK2B-associated phenotypes rather than a sharp distinction between them

Electric Field Controlled Columnar and Planar Patterning of Cholesteric Colloids

We study how dispersions of colloidal particles in a cholesteric liquid crystal behave under a time-dependent electric field. By controlling the amplitude and shape of the applied field wave, we show that the system can be reproducibly driven out of equilibrium through different kinetic pathways and navigated through a glassy-like free energy landscape encompassing many competing metastable equilibria. Such states range from simple Saturn rings to complex structures featuring amorphous defect networks, or stacks of disclination loops. A non-equilibrium electric field can also trigger the alignment of particles into columnar arrays, through defect-mediated force impulses, or their repositioning within a plane. Our results are promising in terms of providing new avenues towards controlled patterning and self-assembly of soft colloid-liquid crystal composite materials.Comment: 5 pages, 4 figures. Phys. Rev. Lett., 2015, in pres

Circular RNAs Could Encode Unique Proteins and Affect Cancer Pathways

CircRNAs constitute a novel class of RNA, generally considered as non-coding RNAs; nonetheless, their coding potential has been under scrutiny. In this work, we systematically explored the predicted proteins of more than 160,000 circRNAs detected by exome capture RNA-sequencing and collected in the MiOncoCirc pan-cancer compendium, including normal and cancer samples from different types of tissues. For the functional evaluation, we compared their primary structure and domain composition with those derived from the same linear mRNAs. Among the 4362 circRNAs potentially encoding proteins with a unique primary structure and 1179 encoding proteins with a novel domain composition, 183 were differentially expressed in cancer. In particular, eight were associated with prognosis in acute myeloid leukemia. The functional classification of the dysregulated circRNA-encoded polypeptides showed an enrichment in the heme and cancer signaling, DNA-binding, and phosphorylation processes, and disclosed the roles of some circRNA-based effectors in cancer

What Is the Exact Contribution of PITX1 and TBX4 Genes in Clubfoot Development? An Italian Study

Congenital clubfoot is a common pediatric malformation that affects approximately 0.1% of all births. 80% of the cases appear isolated, while 20% can be secondary or associated with complex syndromes. To date, two genes that appear to play an important role are PTIX1 and TBX4, but their actual impact is still unclear. Our study aimed to evaluate the prevalence of pathogenic variants in PITX1 and TBX4 in Italian patients with idiopathic clubfoot. PITX1 and TBX4 genes were analyzed by sequence and SNP array in 162 patients. We detected only four nucleotide variants in TBX4, predicted to be benign or likely benign. CNV analysis did not reveal duplications or deletions involving both genes and intragenic structural variants. Our data proved that the idiopathic form of congenital clubfoot was rarely associated with mutations and CNVs on PITX1 and TBX4. Although in some patients, the disease was caused by mutations in both genes; they were responsible for only a tiny minority of cases, at least in the Italian population. It was not excluded that other genes belonging to the same TBX4-PITX1 axis were involved, even if genetic complexity at the origin of clubfoot required the involvement of other factors

Anti-trafficking in the time of FOSTA/SESTA : networked moral gentrification and sexual humanitarian creep

Globally, sex workers have highlighted the harms that accompany anti-prostitution efforts advanced via anti-trafficking policy, and there is a growing body of social science research that has emerged documenting how anti-trafficking efforts contribute to carceral and sexual humanitarian interventions. Yet mounting evidence on the harms of anti-trafficking policies has done little to quell the passage of more laws, including policies aimed at stopping sexual exploitation facilitated by technology. The 2018 passage of the Allow States and Victims to Fight Online Sex Trafficking Act (FOSTA) in the U.S. House of Representatives, and the corresponding Senate bill, the Stop Enabling Sex Traffickers Act (SESTA), is a case study in how efforts to curb sexual exploitation online actually heighten vulnerabilities for the people they purport to protect. Drawing on 34 months of ethnographic fieldwork and interviews with sex workers and trafficked persons (n = 58) and key informants (n = 20) in New York and Los Angeles, we analyze FOSTA/SESTA and its harmful effects as a launchpad to more broadly explore how technology, criminalization, shifting governance arrangements, and conservative moralities cohere to exacerbate sex workers’ vulnerability

Metabolic acetate therapy improves phenotype in the tremor rat model of Canavan disease

Genetic mutations that severely diminish the activity of aspartoacylase (ASPA) result in the fatal brain dysmyelinating disorder, Canavan disease. There is no effective treatment. ASPA produces free acetate from the concentrated brain metabolite, N-acetylaspartate (NAA). Because acetyl coenzyme A is a key building block for lipid synthesis, we postulated that the inability to catabolize NAA leads to a brain acetate deficiency during a critical period of CNS development, impairing myelination and possibly other aspects of brain development. We tested the hypothesis that acetate supplementation during postnatal myelination would ameliorate the severe phenotype associated with ASPA deficiency using the tremor rat model of Canavan disease. Glyceryltriacetate (GTA) was administered orally to tremor rats starting 7 days after birth, and was continued in food and water after weaning. Motor function, myelin lipids, and brain vacuolation were analyzed in GTA-treated and untreated tremor rats. Significant improvements were observed in motor performance and myelin galactocerebroside content in tremor rats treated with GTA. Further, brain vacuolation was modestly reduced, and these reductions were positively correlated with improved motor performance. We also examined the expression of the acetyl coenzyme A synthesizing enzyme acetyl coenzyme A synthase 1 and found upregulation of expression in tremor rats, with a return to near normal expression levels in GTA-treated tremor rats. These results confirm the critical role played by NAA-derived acetate in brain myelination and development, and demonstrate the potential usefulness of acetate therapy for the treatment of Canavan disease

Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.

Age at menarche is a marker of timing of puberty in females. It varies widely between individuals, is a heritable trait and is associated with risks for obesity, type 2 diabetes, cardiovascular disease, breast cancer and all-cause mortality. Studies of rare human disorders of puberty and animal models point to a complex hypothalamic-pituitary-hormonal regulation, but the mechanisms that determine pubertal timing and underlie its links to disease risk remain unclear. Here, using genome-wide and custom-genotyping arrays in up to 182,416 women of European descent from 57 studies, we found robust evidence (P < 5 × 10(-8)) for 123 signals at 106 genomic loci associated with age at menarche. Many loci were associated with other pubertal traits in both sexes, and there was substantial overlap with genes implicated in body mass index and various diseases, including rare disorders of puberty. Menarche signals were enriched in imprinted regions, with three loci (DLK1-WDR25, MKRN3-MAGEL2 and KCNK9) demonstrating parent-of-origin-specific associations concordant with known parental expression patterns. Pathway analyses implicated nuclear hormone receptors, particularly retinoic acid and γ-aminobutyric acid-B2 receptor signalling, among novel mechanisms that regulate pubertal timing in humans. Our findings suggest a genetic architecture involving at least hundreds of common variants in the coordinated timing of the pubertal transition