Comprehensive analysis of mitochondrial and nuclear DNA variations in patients affected by hemoglobinopathies: a pilot study

The hemoglobin disorders are the most common single gene disorders in the world. Previous studies have suggested that they are deeply geographically structured and a variety of genetic determinants influences different clinical phenotypes between patients inheriting identical β-globin gene mutations. In order to get new insights into the heterogeneity of hemoglobin disorders, we investigated the molecular variations on nuclear genes (i.e. HBB, HBG2, BCL11A, HBS1L and MYB) and mitochondrial DNA control region. This pilot study was carried out on 53 patients belonging to different continents and molecularly classified in 4 subgroup: β-thalassemia (β+/β+, β0/β0 and β+/β0)(15), sickle cell disease (HbS/HbS)(20), sickle cell/β-thalassemia (HbS/β+ or HBS/β0)(10), and non-thalassemic compound heterozygous (HbS/HbC, HbO-Arab/HbC)(8). This comprehensive phylogenetic analysis provided a clear separation between African and European patients either in nuclear or mitochondrial variations. Notably, informing on the phylogeographic structure of affected individuals, this accurate genetic stratification, could help to optimize the diagnostic algorithm for patients with uncertain or unknown origin

Design, construction, and test of the Gas Pixel Detectors for the IXPE mission

Due to be launched in late 2021, the Imaging X-Ray Polarimetry Explorer (IXPE) is a NASA Small Explorer mission designed to perform polarization measurements in the 2-8 keV band, complemented with imaging, spectroscopy and timing capabilities. At the heart of the focal plane is a set of three polarization-sensitive Gas Pixel Detectors (GPD), each based on a custom ASIC acting as a charge-collecting anode. In this paper we shall review the design, manufacturing, and test of the IXPE focal-plane detectors, with particular emphasis on the connection between the science drivers, the performance metrics and the operational aspects. We shall present a thorough characterization of the GPDs in terms of effective noise, trigger efficiency, dead time, uniformity of response, and spectral and polarimetric performance. In addition, we shall discuss in detail a number of instrumental effects that are relevant for high-level science analysis -- particularly as far as the response to unpolarized radiation and the stability in time are concerned.Comment: To be published in Astroparticle Physic

Performance of the NA62 trigger system

The NA62 experiment at CERN targets the measurement of the ultra-rare K+ ->pi+ nu nu decay, and carries out a broad physics programme that includes probes for symmetry violations and searches for exotic particles. Data were collected in 2016–2018 using a multi-level trigger system, which is described highlighting performance studies based on 2018 data

Elemental fragmentation cross sections for a O-16 beam of 400 MeV/u kinetic energy interacting with a graphite target using the FOOT Delta E-TOF detectors

The study of nuclear fragmentation plays a central role in many important applications: from the study of Particle Therapy (PT) up to radiation protection for space (RPS) missions and the design of shielding for nuclear reactors. The FragmentatiOn Of Target (FOOT) collaboration aims to study the nuclear reactions that describe the interactions with matter of different light ions (like H-1, He-4, C-12, O-16) of interest for such applications, performing double differential fragmentation cross section measurements in the energy range of interest for PT and RPS. In this manuscript, we present the analysis of the data collected in the interactions of an oxygen ion beam of 400 MeV/u with a graphite target using a partial FOOT setup, at the GSI Helmholtz Center for Heavy Ion Research facility in Darmstadt. During the data taking the magnets, the silicon trackers and the calorimeter foreseen in the final FOOT setup were not yet available, and hence precise measurements of the fragments kinetic energy, momentum and mass were not possible. However, using the FOOT scintillator detectors for the time of flight (TOF) and energy loss (Delta E) measurements together with a drift chamber, used as beam monitor, it was possible to measure the elemental fragmentation cross sections. The reduced detector set-up and the limited available statistics allowed anyway to obtain relevant results, providing statistically significant measurements of cross sections eagerly needed for PT and RPS applications. Whenever possible the obtained results have been compared with existing measurements helping in discriminating between conflicting results in the literature and demonstrating at the same time the proper functioning of the FOOT Delta E-TOF system. Finally, the obtained fragmentation cross sections are compared to the Monte Carlo predictions obtained with the FLUKA software

Measurement of the very rare K + → π+νν¯ decay

The NA62 experiment reports the branching ratio measurement BR(K+→π+νν¯)=(10.6−3.4+4.0|stat±0.9syst)×10−11 at 68% CL, based on the observation of 20 signal candidates with an expected background of 7.0 events from the total data sample collected at the CERN SPS during 2016–2018. This provides evidence for the very rare K+→π+νν¯ decay, observed with a significance of 3.4σ. The experiment achieves a single event sensitivity of (0.839 ± 0.054) × 10−11, corresponding to 10.0 events assuming the Standard Model branching ratio of (8.4 ± 1.0) × 10−11. This measurement is also used to set limits on BR(K+→ π+X), where X is a scalar or pseudo-scalar particle. Details are given of the analysis of the 2018 data sample, which corresponds to about 80% of the total data sample

Search for π⁰ decays to invisible particles

The NA62 experiment at the CERN SPS reports a study of a sample of 4 × 109 tagged π0 mesons from K+ → π+π0(γ), searching for the decay of the π0 to invisible particles. No signal is observed in excess of the expected background fluctuations. An upper limit of 4.4 × 10−9 is set on the branching ratio at 90% confidence level, improving on previous results by a factor of 60. This result can also be interpreted as a model- independent upper limit on the branching ratio for the decay K+ → π+X, where X is a particle escaping detection with mass in the range 0.110–0.155 GeV/c2 and rest lifetime greater than 100 ps. Model-dependent upper limits are obtained assuming X to be an axion-like particle with dominant fermion couplings or a dark scalar mixing with the Standard Model Higgs boson

Searches for lepton number violating K+ decays

The NA62 experiment at CERN reports a search for the lepton number violating decays K+→π−e+e+ and K+→π−μ+μ+ using a data sample collected in 2017. No signals are observed, and upper limits on the branching fractions of these decays of 2.2 x 10^-10 and 4.2 x 10^-11 are obtained, respectively, at 90% confidence level. These upper limits improve on previously reported measurements by factors of 3 and 2, respectively

Externalities and the nucleolus

In most economic applications, externalities prevail: the worth of a coalition depends on how the other players are organized. We show that there is a unique natural way of extending the nucleolus from (coalitional) games without externalities to games with externalities. This is in contrast to the Shapley value and the core for which many different extensions have been proposed

Recent results in kaon physics

A review of the present experimental status of the K → πνν (Kπνν) and other kaon decay analyses at experiments NA62 (CERN) and KOTO (J-PARC) is given. The Kπνν decay is one of the best candidates among the rare meson decays for indirect searches for new physics in the mass ranges complementary to those accessible by current accelerators. The Standard Model (SM) prediction of the branching fraction (B) of the Kπνν decay is lower than 10−10 in both neutral and charged modes. The NA62 experiment aims to measure the B of the charged mode with better than 10% precision. Three candidate events, compatible with the SM prediction, have been observed from a sample of 2.12×1012 K+ decays collected in 2016 and 2017 by NA62. More than twice the statistics is available in the 2018 dataset currently being analysed. The KOTO experiment in Japan aims to measure B(KL → π0νν) using a technique similar to NA62, but with much lower momentum. In the first dataset taken in 2015 zero signal candidate events were observed. The current status of the analysis of the 2016-2018 dataset with 1.4 times more data is presented. Finally, the most recent results of other physics analyses at the NA62 experiment are summarised

Search for production of an invisible dark photon in π0 decays

The results of a search for π0 decays to a photon and an invisible massive dark photon at the NA62 experiment at the CERN SPS are reported. From a total of 4.12 x 10^8 tagged π0 mesons, no signal is observed. Assuming a kinetic-mixing interaction, limits are set on the dark photon coupling to the ordinary photon as a function of the dark photon mass, improving on previous searches in the mass range 60-110 MeV/c^2. The present results are interpreted in terms of an upper limit of the branching ratio of the electro-weak decay π0→γνν¯, improving the current limit by more than three orders of magnitude