The study of light-flavour hadron production plays an important role in understanding the dynamics of the strongly-interacting system created in high-multiplicity pp and p–Pb collisions at the LHC ...energies. Historically, it has been assumed that no QGP is formed in small collision systems, but this paradigm is challenged by the observation of collective-like behaviour and strangeness enhancement in high-multiplicity pp and p–Pb collisions. Exploiting its optimal particle identification capabilities, the ALICE experiment is able to measure pion, kaon, (anti-)proton, strange and multi-strange hadron production in a wide transverse momentum range. We report on the study of light-flavour hadron production as a function of multiplicity and center-of-mass energy in pp and p–Pb collisions using the ALICE apparatus. In addition, new multi-differential measurements are presented, comparing identified particle production in the underlying event to the one in jets.
•Epilepsy in IRF2BPL mutation syndrome is expressed in various clinical manifestations.•The phenotype in IRF2BPL mutation syndrome is heterogeneous and often includes multiple neurological domains.
...IRF2BPL is an intronless gene that was mapped to 14q24.3 chromosome in 2000 and codes for the interferon regulatory factor 2 binding like protein.
To analyses the clinical characteristics of the patients reported in the literature and of an additional patient we observed in order to better delineate the phenomenological spectrum of the disease and provide indications to improve clinical recognition and facilitate diagnosis.
We reported on 28 patients carrying the IRF2BPL mutation who were identified in 10 papers (n.27), using PUBMED as the search engine, and in our hospital (n. 1).
All patients shared developmental delay/regression. Additional neurological symptoms were present in a large proportion of patients and reflected the involvement of five main neurological domains, i.e. epilepsy, dystonia, ataxia, spasticity, and ocular disturbances. Correlation analysis suggested a significant positive correlation between the number of affected neurological domains and the presence of MRI abnormalities (rho = 0.45, p = 0.02), while no significant correlation emerged between the number of affected clinical domains and age at disease onset (rho = 0.18, p = 0.35) or variant type (rho = 0.30, p = 0.12).
Our analysis highlights that the IRF2BPL mutation syndrome is highly specific to the central nervous system. Diagnostic work-up should consider the clinical picture of the IRF2BPL mutation syndrome herein delineated and the existence of conditions that share developmental delay/regression and result from acquired/genetic or unidentifiable underlying etiology.
Abstract
After its successful campaign of measurements beyond the Polar Arctic Circle, the PolarquEEEst experiment measured the cosmic charged particle rate at sea level in a latitude interval ...between 35
$$^{\circ }$$
∘
N and 82
$$^{\circ }$$
∘
N. In this paper, these measurements are described and the corresponding results are discussed.
The eruption of the Hunga-Tonga volcano in the South Pacific Ocean on January 15, 2022, at about 4:15 UTC, generated a violent explosion, which created atmospheric pressure disturbances in the form ...of Rayleigh-Lamb waves detected all over the globe. Here we discuss the observation of the Hunga-Tonga shock-wave performed at the Ny-Ålesund Research Station on the Spitsbergen island, by the detectors of the PolarquEEEst experiment and their ancillary sensors. Online pressure data as well as the results of dedicated offline analysis are presented and discussed in details. Results include wave arrival times, wave amplitude measurements and wave velocity calculation. We observed five passages of the shock wave with a significance larger than 3 Formula: see text and an amplitude up to 1 hPa. The average propagation velocity resulted to be (308 ± 0.6) m/s. Possible effects of the atmospheric pressure variation associated with the shock-wave multiple passages on the cosmic-ray rate at ground level are also investigated. We did not find any significant evidence of this effect.
This paper describes the simulation framework of the extreme energy events (EEE) experiment. EEE is a network of cosmic muon trackers, each made of three multi-gap resistive plate chambers (MRPC), ...able to precisely measure the absolute muon crossing time and the muon integrated angular flux at the ground level. The response of a single MRPC and the combination of three chambers have been implemented in a GEANT4-based framework (GEMC) to study the telescope response. The detector geometry, as well as details about the surrounding materials and the location of the telescopes have been included in the simulations in order to realistically reproduce the experimental set-up of each telescope. A model based on the latest parametrization of the cosmic muon flux has been used to generate single muon events. After validating the framework by comparing simulations to selected EEE telescope data, it has been used to determine detector parameters not accessible by analysing experimental data only, such as detection efficiency, angular and spatial resolution.
Telomeres are the special nucleoprotein structures that protect chromosome ends from both recombination and degradation. In most organisms, telomeric DNA consists of short sequences repeated in ...tandem ending in single-stranded G-rich overhangs. In higher eukaryotes, about 80% of telomeric DNA is organized in tightly packed nucleosomes separated by 10-20 bp of linker DNA. Several specific proteins contribute to telomeric structure. At the moment, a satisfactory description of telomere organization is still lacking. Whereas the role played by telomeric proteins in telomere function and regulation has been widely investigated, little is known about the contribution of nucleosomes to the protection of chromosome ends. In this review we present an overview on the chromatin organization in lower and higher eukaryotes, and discuss the recent results on the peculiar features of telomeric nucleosomes and on the epigenetic status of mammalian telomeres.
Forty patients with high-risk hematologic malignancies, median age 9 years, underwent haploidentical-HSCT from April 2005 to April 2015. Seventeen patients were transplanted with CD3-depleted PBSCs ...by negative selection (TCD group) following a reduced-intensity conditioning regimen (RIC), and 23 patients received T-cell-replete PBSCs followed by post-transplantation cyclophosphamide (PT-Cy group) after myeloablative conditioning (n=16) or RIC (n=7). Outcomes are reported for the TCD and PT-Cy recipients, respectively. Engraftment was achieved in 88% versus 100%. Median time to neutrophils>500/μL was 10 days versus 15 days. Platelets>20 000/μL occurred at a median of 16 days versus 20 days, respectively. Transplant-related mortality (TRM) was 24% versus 26% at 1 year. The cumulative incidence (CI) of grade III-IV acute GvHD was 7% versus 5%, and chronic GvHD 9% versus 53% (P=0.029). Relapse at 2 years was 31% versus 24%. Actuarial overall survival rates at 2 years were 47% versus 48%. Causes of death were infections (n=3), sinusoidal obstructive syndrome (n=4), acute GvHD (n=2) and relapse (n=9). These results indicate that haploidentical-HSCT is feasible in Uruguay. The TRM rate is of concern and should be the focus of continuing attention. Chronic GvHD risk was higher in the PT-Cy approach, so modifications are justified.
For the first time, a phenomenological analysis of the experimental electromagnetic form factors of the nucleon, both in the timelike and spacelike regions, is performed by taking into account the ...effects of nonvalence components in the nucleon state, within a light-front framework. Our model, based on suitable ansatzes for the nucleon Bethe–Salpeter amplitude and a microscopic version of the well-known Vector Meson Dominance model, has only four adjusted parameters (determined by the spacelike data with χ2/datum∼1.7), and yields a nice description of the experimental electromagnetic form factors in the physical region in the range −30(GeV/c)2<q2<20(GeV/c)2, except for the neutron one in the timelike region. Valuable information can be gained in the timelike region on possible missing Vector Mesons around q2∼4.5(GeV/c)2 and q2∼8.0(GeV/c)2.
Recently, social anxiety disorder (SAD) and paranoia have been demonstrated to be closely related. However, data were primarily drawn from adult community samples or patients with schizophrenia. The ...present study used a cross-sectional design to evaluate a sample of adolescents with SAD (n = 30, mean age 15.3 ± 0.9 years) compared with an age- and sex-matched group of healthy controls (n = 26, mean age 15.9 ± 1.6 years). The SAD group displayed more frequent and intense paranoid thoughts than the control group (t = 4.16,
p
< 0.001). The level of paranoid thoughts was significantly predicted by the degree of social phobia, even after adjusting for sex and other anxiety disorders, although adjusting for depression slightly reduced the extent and significance of the prediction. A lack of awareness about the association between SAD and paranoia may lead to incorrect diagnoses (e.g. misdiagnosis of psychotic disorders), or it may negatively influence the (psycho)therapeutic process and patient outcomes.
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