Geni modificatori della Beta talassemia e sviluppo di un algoritmo per la predizione della severità clinica

Introduction Many genetic factors influence Beta Thalassemia severity, recessive autosomal disorder with a highly variable phenotype, beyond mutations in the causative Beta-globin gene (chr 11). These factors are Alpha-globin genes defects and Fetal Hemoglobin modulators (HBG2:g.- 158C>T polymorphism, HBS1L-MYB intergenic region and the BCL11A gene). Metods In this work we studied an International cohort of 890 Beta Thalassemic patients to build a predictive severity model of the pathology. In order to achieve this goal we characterized 54 genetic variants at these loci robustly associated with the amelioration of Beta Thalassemia phenotype. Subsequently we assessed, using Cox proportional hazard analysis on a training set, the effect of these loci on the age at which patients start regular transfusions. Finally we built a Thalassemia Severity Score and validated it on a testing set. Results Discriminatory power of the model was high (C-index=0.705; R2=0.343) and the validation conducted on the testing set confirmed its predictive accuracy with transfusion free survival probability (p<0.001) and with transfusion dependency status (Area Under the Receiver Operating Characteristic Curve=0.774, <0.001). Finally, an automatized online calculation of the score was made available at http://tss.unica.it. Besides the accurate assessment of genetic predictors effect, the presented results could be helpful in the management of patients, both as a predictive score for screening and a standardized scale of severity to overcome the major-intermedia dichotomy and suport clinical decision

Irrigation with treated municipal wastewater on artichoke crop: assessment of soil and yield heavy metal content and human risk

Industrial and municipal wastewaters are often used for irrigating agricultural fields in arid and semi-arid countries, representing the most attractive option to alleviate pressure on fresh-water resources. However, the wastewater may contain various potentially toxic elements and organic matters with highly harmful effects on human and animal health. During two growing seasons of globe artichoke, the effects of irrigation with secondary (SWW) and tertiary (TWW) municipal wastewater on heavy metal soil and plant content were evaluated together with the consequent human risk from artichoke head consumption. The heavy metal contents (i.e., Al, Cd, Co, Cr, Cu, Fe, Ni, Pb, Zn, and Mn) of the irrigation water, soil, plant and yield were analyzed. Total and extractable heavy metals were quantified to determine the bioaccumulation factors, and the health risks to adults and children were determined according to hazard indices. The heavy metal contents of the artichoke heads harvested after SWW and TWW irrigation were lower than the international threshold values and low bioaccumulation factors suggested that these heavy metals did not accumulate in the edible part of the artichoke crop. The hazard indices based on the consumption of the artichoke heads remained <1.0 for both adults and children, thus indicating that the health risks involving the different heavy metals are not significant

combined effects of deficit irrigation and strobilurin application on gas exchange yield and water use efficiency in tomato solanum lycopersicum l

Abstract Water is the major factor limiting plant productivity in many regions of the world. The aim of this study was to evaluate the combined effect of deficit irrigation (restitution of 100%, 50% and 0% of plant consumption: WR100, WR50 and WR0, respectively) and strobilurin treatment (no agrochemical added vs azoxystrobin treatment) in two tomato genotypes, IT-22/025, a wild-type plant, and Ikram, a commercial hybrid. Water use efficiency (WUE), physiological, yield and quality parameters and the expression of ERD15, a gene involved in abiotic stress response were evaluated. The two genotypes showed a different behaviour in response to water stress. Stomatal conductance decrease from WR100 to WR50 was in mean 27.5% for IT-22/025 and 44.5% for Ikram. Moreover, in Ikram, water stress decreased transpiration more than assimilation rate, while the opposite occurred in IT-22/025. The ERD15 expression decrease from WR100 to WR50 was higher for IT-22/025. These effects corresponded to higher total fresh fruit yield and WUE for IT-22/025. Strobilurin determined lower stomata conductance, maintaining higher assimilation rate, leading to an increase in WUE in WR0. Finally, strobilurin caused an increase in ERD15 expression only in IT-22/025. This study underlines the possibility to reduce the water used in tomato crop, maintaining acceptable yield and quality, by using agronomic and genetic strategy

Search for dark matter produced in association with bottom or top quarks in √s = 13 TeV pp collisions with the ATLAS detector

A search for weakly interacting massive particle dark matter produced in association with bottom or top quarks is presented. Final states containing third-generation quarks and miss- ing transverse momentum are considered. The analysis uses 36.1 fb−1 of proton–proton collision data recorded by the ATLAS experiment at √s = 13 TeV in 2015 and 2016. No significant excess of events above the estimated backgrounds is observed. The results are in- terpreted in the framework of simplified models of spin-0 dark-matter mediators. For colour- neutral spin-0 mediators produced in association with top quarks and decaying into a pair of dark-matter particles, mediator masses below 50 GeV are excluded assuming a dark-matter candidate mass of 1 GeV and unitary couplings. For scalar and pseudoscalar mediators produced in association with bottom quarks, the search sets limits on the production cross- section of 300 times the predicted rate for mediators with masses between 10 and 50 GeV and assuming a dark-matter mass of 1 GeV and unitary coupling. Constraints on colour- charged scalar simplified models are also presented. Assuming a dark-matter particle mass of 35 GeV, mediator particles with mass below 1.1 TeV are excluded for couplings yielding a dark-matter relic density consistent with measurements

Measurements of the Higgs boson production and decay rates and coupling strengths using pp collision data at √S=7 and 8 TeV in the ATLAS experiment

Combined analyses of the Higgs boson production and decay rates as well as its coupling strengths to vector bosons and fermions are presented. The combinations include the results of the analyses of the H -> gamma gamma, ZZ*, WW*, Z gamma, b (b) over bar, tau tau and mu mu decay modes, and the constraints on the associated production with a pair of top quarks and on the off-shell coupling strengths of the Higgs boson. The results are based on the LHC proton-proton collision datasets, with integrated luminosities of up to 4.7 fb(-1) at root s = 7 TeV and 20.3 fb(-1) at root s = 8 TeV, recorded by the ATLAS detector in 2011 and 2012. Combining all production modes and decay channels, the measured signal yield, normalised to the Standard Model expectation, is 1.18(-0.14)(+0.15). The observed Higgs boson production and decay rates are interpreted in a leading-order coupling framework, exploring a wide range of benchmark coupling models both with and without assumptions on the Higgs boson width and on the Standard Model particle content in loop processes. The data are found to be compatible with the Standard Model expectations for a Higgs boson at a mass of 125.36 GeV for all models considered

Genome-Wide Association Study Identifies Novel Restless Legs Syndrome Susceptibility Loci on 2p14 and 16q12.1

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