Refinement of the diagnostic approach for the identification of children and adolescents affected by familial hypercholesterolemia: Evidence from the LIPIGEN study

Background and aims: We aimed to describe the limitations of familiar hypercholesterolemia (FH) diagnosis in childhood based on the presence of the typical features of FH, such as physical sings of cholesterol accumulation and personal or family history of premature cardiovascular disease or hypercholesterolemia, comparing their prevalence in the adult and paediatric FH population, and to illustrate how additional information can lead to a more effective diagnosis of FH at a younger age. Methods: From the Italian LIPIGEN cohort, we selected 1188 (≥18 years) and 708 (<18 years) genetically-confirmed heterozygous FH, with no missing personal FH features. The prevalence of personal and familial FH features was compared between the two groups. For a sub-group of the paediatric cohort (N = 374), data about premature coronary heart disease (CHD) in second-degree family members were also included in the evaluation. Results: The lower prevalence of typical FH features in children/adolescents vs adults was confirmed: the prevalence of tendon xanthoma was 2.1% vs 13.1%, and arcus cornealis was present in 1.6% vs 11.2% of the cohorts, respectively. No children presented clinical history of premature CHD or cerebral/peripheral vascular disease compared to 8.8% and 5.6% of adults, respectively. The prevalence of premature CHD in first-degree relatives was significantly higher in adults compared to children/adolescents (38.9% vs 19.7%). In the sub-cohort analysis, a premature CHD event in parents was reported in 63 out of 374 subjects (16.8%), but the percentage increased to 54.0% extending the evaluation also to second-degree relatives. Conclusions: In children, the typical FH features are clearly less informative than in adults. A more thorough data collection, adding information about second-degree relatives, could improve the diagnosis of FH at younger age

Euclid: Discovering pair-instability supernovae with the Deep Survey

Pair-instability supernovae are theorized supernovae that have not yet been observationally confirmed. They are predicted to exist in low-metallicity environments. Because overall metallicity becomes lower at higher redshifts, deep near-infrared transient surveys probing high-redshift supernovae are suitable to discover pair-instability supernovae. The Euclid satellite, which is planned to be launched in 2023, has a near-infrared wide-field instrument that is suitable for a high-redshift supernova survey. Although no dedicated supernova survey is currently planned during the Euclid's 6 year primary mission, the Euclid Deep Survey is planned to make regular observations of three Euclid Deep Fields (40 deg2 in total) spanning six years. While the observations of the Euclid Deep Fields are not frequent, we show that the predicted long duration of pair-instability supernovae would allow us to search for high-redshift pair-instability supernovae with the Euclid Deep Survey. Based on the current observational plan of the Euclid mission, we conduct survey simulations in order to estimate the expected numbers of pair-instability supernova discoveries. We find that up to several hundred pair-instability supernovae at z < ~ 3.5 can be discovered by the Euclid Deep Survey. We also show that pair-instability supernova candidates can be efficiently identified by their duration and color that can be determined with the current Euclid Deep Survey plan. We conclude that the Euclid mission can lead to the first confident discovery of pair-instability supernovae if their event rates are as high as those predicted by recent theoretical studies. We also update the expected numbers of superluminous supernova discoveries in the Euclid Deep Survey based on the latest observational plan.Comment: 12 pages, 13 figures, 2 tables, submitted to Astronomy & Astrophysic

Euclid preparation: X. The Euclid photometric-redshift challenge

Forthcoming large photometric surveys for cosmology require precise and accurate photometric redshift (photo-z) measurements for the success of their main science objectives. However, to date, no method has been able to produce photo-zs at the required accuracy using only the broad-band photometry that those surveys will provide. An assessment of the strengths and weaknesses of current methods is a crucial step in the eventual development of an approach to meet this challenge. We report on the performance of 13 photometric redshift code single value redshift estimates and redshift probability distributions (PDZs) on a common set of data, focusing particularly on the 0.2−2.6 redshift range that the Euclid mission will probe. We designed a challenge using emulated Euclid data drawn from three photometric surveys of the COSMOS field. The data was divided into two samples: one calibration sample for which photometry and redshifts were provided to the participants; and the validation sample, containing only the photometry to ensure a blinded test of the methods. Participants were invited to provide a redshift single value estimate and a PDZ for each source in the validation sample, along with a rejection flag that indicates the sources they consider unfit for use in cosmological analyses. The performance of each method was assessed through a set of informative metrics, using cross-matched spectroscopic and highlyaccurate photometric redshifts as the ground truth. We show that the rejection criteria set by participants are efficient in removing strong outliers, that is to say sources for which the photo-z deviates by more than 0.15(1 + z) from the spectroscopic-redshift (spec-z). We also show that, while all methods are able to provide reliable single value estimates, several machine-learning methods do not manage to produce useful PDZs. We find that no machine-learning method provides good results in the regions of galaxy color-space that are sparsely populated by spectroscopic-redshifts, for example z > 1. However they generally perform better than template-fitting methods at low redshift (z < 0.7), indicating that template-fitting methods do not use all of the information contained in the photometry. We introduce metrics that quantify both photo-z precision and completeness of the samples (post-rejection), since both contribute to the final figure of merit of the science goals of the survey (e.g., cosmic shear from Euclid). Template-fitting methods provide the best results in these metrics, but we show that a combination of template-fitting results and machine-learning results with rejection criteria can outperform any individual method. On this basis, we argue that further work in identifying how to best select between machine-learning and template-fitting approaches for each individual galaxy should be pursued as a priority

The THESEUS space mission concept: science case, design and expected performances

THESEUS is a space mission concept aimed at exploiting Gamma-Ray Bursts for investigating the early Universe and at providing a substantial advancement of multi-messenger and time-domain astrophysics. These goals will be achieved through a unique combination of instruments allowing GRB and X-ray transient detection over a broad field of view (more than 1sr) with 0.5¿1 arcmin localization, an energy band extending from several MeV down to 0.3¿keV and high sensitivity to transient sources in the soft X-ray domain, as well as on-board prompt (few minutes) follow-up with a 0.7¿m class IR telescope with both imaging and spectroscopic capabilities. THESEUS will be perfectly suited for addressing the main open issues in cosmology such as, e.g., star formation rate and metallicity evolution of the inter-stellar and intra-galactic medium up to redshift 10, signatures of Pop III stars, sources and physics of re-ionization, and the faint end of the galaxy luminosity function. In addition, it will provide unprecedented capability to monitor the X-ray variable sky, thus detecting, localizing, and identifying the electromagnetic counterparts to sources of gravitational radiation, which may be routinely detected in the late ¿20s/early ¿30s by next generation facilities like aLIGO/ aVirgo, eLISA, KAGRA, and Einstein Telescope. THESEUS will also provide powerful synergies with the next generation of multi-wavelength observatories (e.g., LSST, ELT, SKA, CTA, ATHENA).© 2018 COSPARS.E. acknowledges the financial support from contracts ASI-INAF 1/009/10/0, NARO15 ASI-INAF 1/037/12/0 and ASI 2015-046-R.0. R.H. acknowledges GACR grant 13-33324S. S.V. research leading to these results has received funding from the European Union's Seventh Framework Programme for research, technological development and demonstration under grant agreement no 606176. D.S. was supported by the Czech grant 1601116S GA CR. Maria Giovanna Dainotti acknowledges funding from the European Union through the Marie Curie Action FP7-PEOPLE-2013-IOF, under grant agreement No. 626267 (>Cosmological Candles>)

Searches for lepton-flavour-violating decays of the Higgs boson into eτ and μτ in \sqrt{s} = 13 TeV pp collisions with the ATLAS detector

Abstract This paper presents direct searches for lepton flavour violation in Higgs boson decays, H → eτ and H → μτ, performed using data collected with the ATLAS detector at the LHC. The searches are based on a data sample of proton-proton collisions at a centre-of-mass energy s $$\sqrt{s}$$ = 13 TeV, corresponding to an integrated luminosity of 138 fb−1. Leptonic (τ → ℓνℓντ) and hadronic (τ → hadrons ντ) decays of the τ-lepton are considered. Two background estimation techniques are employed: the MC-template method, based on data-corrected simulation samples, and the Symmetry method, based on exploiting the symmetry between electrons and muons in the Standard Model backgrounds. No significant excess of events is observed and the results are interpreted as upper limits on lepton-flavour-violating branching ratios of the Higgs boson. The observed (expected) upper limits set on the branching ratios at 95% confidence level, B $$\mathcal{B}$$ (H → eτ) < 0.20% (0.12%) and B $$\mathcal{B}$$ (H → μτ ) < 0.18% (0.09%), are obtained with the MC-template method from a simultaneous measurement of potential H → eτ and H → μτ signals. The best-fit branching ratio difference, B $$\mathcal{B}$$ (H → μτ) → B $$\mathcal{B}$$ (H → eτ), measured with the Symmetry method in the channel where the τ-lepton decays to leptons, is (0.25 ± 0.10)%, compatible with a value of zero within 2.5σ

Measurement of the polarisation of single top quarks and antiquarks produced in the t-channel at √s = 13 TeV and bounds on the tWb dipole operator from the ATLAS experiment

A simultaneous measurement of the three components of the top-quark and top-antiquark polarisation vectors in t-channel single-top-quark production is presented. This analysis is based on data from proton–proton collisions at a centre-of-mass energy of 13 TeV corresponding to an integrated luminosity of 139 fb−1, collected with the ATLAS detector at the LHC. Selected events contain exactly one isolated electron or muon, large missing transverse momentum and exactly two jets, one being b-tagged. Stringent selection requirements are applied to discriminate t-channel single-top-quark events from the background contributions. The top-quark and top-antiquark polarisation vectors are measured from the distributions of the direction cosines of the charged-lepton momentum in the top-quark rest frame. The three components of the polarisation vector for the selected top-quark event sample are Px′ = 0.01 ± 0.18, Py′ = −0.029 ± 0.027, Pz′ = 0.91 ± 0.10 and for the top-antiquark event sample they are Px′ = −0.02 ± 0.20, Py′ = −0.007 ± 0.051, Pz′ = 0.79 ± 0.16. Normalised differential cross-sections corrected to a fiducial region at the stable-particle level are presented as a function of the charged-lepton angles for top-quark and top-antiquark events inclusively and separately. These measurements are in agreement with Standard Model predictions. The angular differential cross-sections are used to derive bounds on the complex Wilson coefficient of the dimension-six OtW operator in the framework of an effective field theory. The obtained bounds are CtW ∈ [−0.9, 1.4] and CitW ∈ [−0.8, 0.2], both at 95% confidence level. [Figure not available: see fulltext.]