Melorheostosis and Osteopoikilosis Clinical and Molecular Description of an Italian Case Series

Melorheostosis (MEL) is an uncommon, sclerosing disease, characterised by hyperostosis of long bones, resembling the flowing of candle wax. The disease is sporadic and the pathogenesis is still poorly understood. Occasionally, the same family can include individuals with MEL and Osteopoikilosis (OPK), a disease characterised by multiple round foci of increased bone density. LEMD3 gene mutations are related to OPK and Buschke–Ollendorff Syndrome, a genetic condition in which an association between MEL, OPK and skin lesions is observed. In rare cases, LEMD3 mutations and recently mosaic MAP2K1 gene mutations have been correlated to MEL suggesting that somatic mosaicism could be causative of the disease. In this study, we described the clinical, radiological and molecular findings of 19 individuals with MEL and 8 with OPK and compared the results to the medical literature. The molecular analyses of this case series corroborate the available data in the medical literature, indicating that LEMD3 germline mutations are not a major cause of isolated MEL and reporting five further cases of OPK caused by LEMD3 germline mutations

Development and validation of HERWIG 7 tunes from CMS underlying-event measurements

This paper presents new sets of parameters (“tunes”) for the underlying-event model of the HERWIG7 event generator. These parameters control the description of multiple-parton interactions (MPI) and colour reconnection in HERWIG7, and are obtained from a fit to minimum-bias data collected by the CMS experiment at s=0.9, 7, and 13Te. The tunes are based on the NNPDF 3.1 next-to-next-to-leading-order parton distribution function (PDF) set for the parton shower, and either a leading-order or next-to-next-to-leading-order PDF set for the simulation of MPI and the beam remnants. Predictions utilizing the tunes are produced for event shape observables in electron-positron collisions, and for minimum-bias, inclusive jet, top quark pair, and Z and W boson events in proton-proton collisions, and are compared with data. Each of the new tunes describes the data at a reasonable level, and the tunes using a leading-order PDF for the simulation of MPI provide the best description of the dat

Low diaphragm muscle mass predicts adverse outcome in patients hospitalized for COVID-19 pneumonia: An exploratory pilot study

BACKGROUND: The aim of this study was to evaluate whether measurement of diaphragm thickness (DT) by ultrasonography may be a clinically useful noninvasive method for identifying patients at risk of adverse outcomes defined as need of invasive mechanical ventilation or death. METHODS: We prospectively enrolled 77 patients with laboratory-confirmed COVID-19 infection admitted to our intermediate care unit in Pisa between March 5 and March 30, 2020, with follow-up until hospital discharge or death. Logistic regression was used identify variables potentially associated with adverse outcomes and those P<0.10 were entered into a multivariate logistic regression model. cumulative probability for lack of adverse outcomes in patients with or without low baseline diaphragm muscle mass was calculated with the Kaplan-Meier product-limit estimator. RESULTS: The main findings of this study are that: 1) patients who developed adverse outcomes had thinner diaphragm than those who did not (2.0 vs. 2.2 mm, P=0.001); and 2) DT and lymphocyte count were independent significant predictors of adverse outcomes, with end-expiratory DT being the strongest (8=-708; oR=0.492; P=0.018). coNcLUSioNS: Diaphragmatic ultrasound may be a valid tool to evaluate the risk of respiratory failure. Evaluating the need of mechanical ventilation treatment should be based not only on Pao2/Fio2, but on a more comprehensive assess¬ ment including DT because if the lungs become less compliant a thinner diaphragm, albeit free of intrinsic abnormality, may become exhausted, thus contributing to severe respiratory failure

Quality Control of Mass-Produced GEM Detectors for the CMS GE1/1 Muon Upgrade

The series of upgrades to the Large Hadron Collider, culminating in the High Luminosity Large Hadron Collider, will enable a significant expansion of the physics program of the CMS experiment. However, the accelerator upgrades will also make the experimental conditions more challenging, with implications for detector operations, triggering, and data analysis. The luminosity of the proton-proton collisions is expected to exceed $2-3\times10^{34}$~cm$^{-2}$s$^{-1}$ for Run 3 (starting in 2022), and it will be at least $5\times10^{34}$~cm$^{-2}$s$^{-1}$ when the High Luminosity Large Hadron Collider is completed for Run 4. These conditions will affect muon triggering, identification, and measurement, which are critical capabilities of the experiment. To address these challenges, additional muon detectors are being installed in the CMS endcaps, based on Gas Electron Multiplier technology. For this purpose, 161 large triple-Gas Electron Multiplier detectors have been constructed and tested. Installation of these devices began in 2019 with the GE1/1 station and will be followed by two additional stations, GE2/1 and ME0, to be installed in 2023 and 2026, respectively. The assembly and quality control of the GE1/1 detectors were distributed across several production sites around the world. We motivate and discuss the quality control procedures that were developed to standardize the performance of the detectors, and we present the final results of the production. Out of 161 detectors produced, 156 detectors passed all tests, and 144 detectors are now installed in the CMS experiment. The various visual inspections, gas tightness tests, intrinsic noise rate characterizations, and effective gas gain and response uniformity tests allowed the project to achieve this high success rate

Production and validation of industrially produced large-sized GEM foils for the Phase-2 upgrade of the CMS muon spectrometer

The upgrade of the CMS detector for the high luminosity LHC (HL-LHC) will include gas electron multiplier (GEM) detectors in the end-cap muon spectrometer. Due to the limited supply of large area GEM detectors, the Korean CMS (KCMS) collaboration had formed a consortium with Mecaro Co., Ltd. to serve as a supplier of GEM foils with area of approximately 0.6 m$^{2}$. The consortium has developed a double-mask etching technique for production of these large-sized GEM foils. This article describes the production, quality control, and quality assessment (QA/QC) procedures and the mass production status for the GEM foils. Validation procedures indicate that the structure of the Korean foils are in the designed range. Detectors employing the Korean foils satisfy the requirements of the HL-LHC in terms of the effective gain, response uniformity, rate capability, discharge probability, and hardness against discharges. No aging phenomena were observed with a charge collection of 82 mC/cm$^{2}$. Mass production of KCMS GEM foils is currently in progress

Measurement of inclusive and differential cross sections for single top quark production in association with a W boson in proton-proton collisions at s \sqrt{s} = 13 TeV

International audienceMeasurements of the inclusive and normalised differential cross sections are presented for the production of single top quarks in association with a W boson in proton-proton collisions at a centre-of-mass energy of 13 TeV. The data used were recorded with the CMS detector at the LHC during 2016–2018, and correspond to an integrated luminosity of 138 fb$^{−1}$. Events containing one electron and one muon in the final state are analysed. For the inclusive measurement, a multivariate discriminant, exploiting the kinematic properties of the events is used to separate the signal from the dominant $\textrm{t}\overline{\textrm{t}}$ background. A cross section of $79.2\pm 0.9{\left(\textrm{stat}\right)}_{-8.0}^{+7.7}\left(\textrm{syst}\right)\pm 1.2\left(\textrm{lumi}\right)$ pb is obtained, consistent with the predictions of the standard model. For the differential measurements, a fiducial region is defined according to the detector acceptance, and the requirement of exactly one jet coming from the fragmentation of a bottom quark. The resulting distributions are unfolded to particle level and agree with the predictions at next-to-leading order in perturbative quantum chromodynamics.[graphic not available: see fulltext

Search for Higgs Boson and Observation of Z Boson through their Decay into a Charm Quark-Antiquark Pair in Boosted Topologies in Proton-Proton Collisions at s\sqrt{s} =13 TeV

A search for the standard model (SM) Higgs boson (H) produced with transverse momentum greater than 450 GeV and decaying to a charm quark-antiquark ($\mathrm{c\bar{c}}$) pair is presented. The search is performed using proton-proton collision data collected at $\sqrt{s}$ = 13 TeV by the CMS experiment at the LHC, corresponding to an integrated luminosity of 138 fb$^{-1}$. Boosted H $\to$$\mathrm{c\bar{c}}$ decay products are reconstructed as a single large-radius jet and identified using a deep neural network charm tagging technique. The method is validated by measuring the Z $\to$$\mathrm{c\bar{c}}$ decay process, which is observed in association with jets at high $p_\mathrm{T}$ for the first time with a signal strength of 1.00 $_{-0.14}^{+0.17}$ (syst) $\pm$ 0.08 (theo) $\pm$ 0.06 (stat), defined as the ratio of the observed process rate to the standard model expectation. The observed (expected) upper limit on $\sigma$(H) $\mathcal{B}$(H $\to$$\mathrm{c\bar{c}}$) is set at 47 (39) times the SM prediction at 95% confidence level

Search for pair production of vector-like quarks in leptonic final states in proton-proton collisions at s \sqrt{s} = 13 TeV

A search is presented for vector-like $\mathrm{T}$ and $\mathrm{B}$ quark-antiquark pairs produced in proton-proton collisions at a center-of-mass energy of 13 TeV. Data were collected by the CMS experiment at the CERN LHC in 2016-2018, with an integrated luminosity of 138 fb$^{-1}$. Events are separated into single-lepton, same-sign charge dilepton, and multilepton channels. In the analysis of the single-lepton channel a multilayer neural network and jet identification techniques are employed to select signal events, while the same-sign dilepton and multilepton channels rely on the high-energy signature of the signal to distinguish it from standard model backgrounds. The data are consistent with standard model background predictions, and the production of vector-like quark pairs is excluded at 95% confidence level for $\mathrm{T}$ quark masses up to 1.54 TeV and $\mathrm{B}$ quark masses up to 1.56 TeV, depending on the branching fractions assumed, with maximal sensitivity to decay modes that include multiple top quarks. The limits obtained in this search are the strongest limits to date for $\mathrm{T} \overline{\mathrm{T}}$ production, excluding masses below 1.48 TeV for all decays to third generation quarks, and are the strongest limits to date for $\mathrm{B} \overline{\mathrm{B}}$ production with $\mathrm{B}$ quark decays to tW.A search is presented for vector-like T and B quark-antiquark pairs produced in proton-proton collisions at a center-of-mass energy of 13 TeV. Data were collected by the CMS experiment at the CERN LHC in 2016–2018, with an integrated luminosity of 138 fb$^{−1}$. Events are separated into single-lepton, same-sign charge dilepton, and multi-lepton channels. In the analysis of the single-lepton channel a multilayer neural network and jet identification techniques are employed to select signal events, while the same-sign dilepton and multilepton channels rely on the high-energy signature of the signal to distinguish it from standard model backgrounds. The data are consistent with standard model background predictions, and the production of vector-like quark pairs is excluded at 95% confidence level for T quark masses up to 1.54 TeV and B quark masses up to 1.56 TeV, depending on the branching fractions assumed, with maximal sensitivity to decay modes that include multiple top quarks. The limits obtained in this search are the strongest limits to date for $\textrm{T}\overline{\textrm{T}}$ production, excluding masses below 1.48 TeV for all decays to third generation quarks, and are the strongest limits to date for $\textrm{B}\overline{\textrm{B}}$ production with B quark decays to tW.[graphic not available: see fulltext]A search is presented for vector-like T and B quark-antiquark pairs produced in proton-proton collisions at a center-of-mass energy of 13 TeV. Data were collected by the CMS experiment at the CERN LHC in 2016-2018, with an integrated luminosity of 138 fb$^{-1}$. Events are separated into single-lepton, same-sign charge dilepton, and multilepton channels. In the analysis of the single-lepton channel a multilayer neural network and jet identification techniques are employed to select signal events, while the same-sign dilepton and multilepton channels rely on the high-energy signature of the signal to distinguish it from standard model backgrounds. The data are consistent with standard model background predictions, and the production of vector-like quark pairs is excluded at 95% confidence level for T quark masses up to 1.54 TeV and B quark masses up to 1.56 TeV, depending on the branching fractions assumed, with maximal sensitivity to decay modes that include multiple top quarks. The limits obtained in this search are the strongest limits to date for $\mathrm{T\overline{T}}$ production, excluding masses below 1.48 TeV for all decays to third generation quarks, and are the strongest limits to date for $\mathrm{B\overline{B}}$ production with B quark decays to tW

Search for top squarks in the four-body decay mode with single lepton final states in proton-proton collisions at s= \sqrt{s}= 13 TeV

A search for the pair production of the lightest supersymmetric partner of the top quark, the top squark ($\tilde{\mathrm{t}}_{1}$), is presented. The search targets the four-body decay of the $\tilde{\mathrm{t}}_{1}$, which is preferred when the mass difference between the top squark and the lightest supersymmetric particle is smaller than the mass of the W boson. This decay mode consists of a bottom quark, two other fermions, and the lightest neutralino ($\tilde{\chi}_{1}^{0}$), which is assumed to be the lightest supersymmetric particle. The data correspond to an integrated luminosity of 138 fb$^{-1}$ of proton-proton collisions at a center-of-mass energy of 13 TeV collected by the CMS experiment at the CERN LHC. Events are selected using the presence of a high-momentum jet, an electron or muon with low transverse momentum, and a significant missing transverse momentum. The signal is selected based on a multivariate approach that is optimized for the difference between $m(\tilde{\mathrm{t}}_{1})$ and $m(\tilde{\chi}_{1}^{0})$. The contribution from leading background processes is estimated from data. No significant excess is observed above the expectation from standard model processes. The results of this search exclude top squarks at 95% confidence level for masses up to 480 and 700 GeV for $m(\tilde{\mathrm{t}}_{1}) - m(\tilde{\chi}_{1}^{0}) =$ 10 and 80 GeV, respectively.A search for the pair production of the lightest supersymmetric partner of the top quark, the top squark (${\overset{\sim }{\textrm{t}}}_1$), is presented. The search targets the four-body decay of the ${\overset{\sim }{\textrm{t}}}_1$, which is preferred when the mass difference between the top squark and the lightest supersymmetric particle is smaller than the mass of the W boson. This decay mode consists of a bottom quark, two other fermions, and the lightest neutralino (${\overset{\sim }{\chi}}_1^0$), which is assumed to be the lightest supersymmetric particle. The data correspond to an integrated luminosity of 138 fb$^{−1}$ of proton-proton collisions at a center-of-mass energy of 13 TeV collected by the CMS experiment at the CERN LHC. Events are selected using the presence of a high-momentum jet, an electron or muon with low transverse momentum, and a significant missing transverse momentum. The signal is selected based on a multivariate approach that is optimized for the difference between m(${\overset{\sim }{\textrm{t}}}_1$) and m(${\overset{\sim }{\chi}}_1^0$). The contribution from leading background processes is estimated from data. No significant excess is observed above the expectation from standard model processes. The results of this search exclude top squarks at 95% confidence level for masses up to 480 and 700 GeV for m(${\overset{\sim }{\textrm{t}}}_1$) − m(${\overset{\sim }{\chi}}_1^0$) = 10 and 80 GeV, respectively.[graphic not available: see fulltext]A search for the pair production of the lightest supersymmetric partner of the top quark, the top squark ($\tilde{\mathrm{t}}_1$), is presented. The search targets the four-body decay of the $\tilde{\mathrm{t}}_1$, which is preferred when the mass difference between the top squark and the lightest supersymmetric particle is smaller than the mass of the W boson. This decay mode consists of a bottom quark, two other fermions, and the lightest neutralino ($\tilde{\chi}^0_1$), which is assumed to be the lightest supersymmetric particle. The data correspond to an integrated luminosity of 138 fb$^{-1}$ of proton-proton collisions at a center-of-mass energy of 13 TeV collected by the CMS experiment at the CERN LHC. Events are selected using the presence of a high-momentum jet, an electron or muon with low transverse momentum, and a significant missing transverse momentum. The signal is selected based on a multivariate approach that is optimized for the difference between $m(\tilde{\mathrm{t}}_1)$ and $m(\tilde{\chi}^0_1)$. The contribution from leading background processes is estimated from data. No significant excess is observed above the expectation from standard model processes. The results of this search exclude top squarks at 95% confidence level for masses up to 480 and 700 GeV for $m(\tilde{\mathrm{t}}_1) - m(\tilde{\chi}^0_1$) = 10 and 80 GeV, respectively

Search for nonresonant Higgs boson pair production in the four leptons plus twob jets final state in proton-proton collisions at s \sqrt{s} = 13 TeV

The first search for nonresonant production of Higgs boson pairs (HH) with one H decaying into four leptons and the other into a pair of b quarks is presented, using proton-proton collisions recorded at a center-of-mass energy of $\sqrt{s}$ = 13 TeV by the CMS experiment. The analyzed data correspond to an integrated luminosity of 138 fb$^{−1}$. A 95% confidence level upper limit of 32.4 is set on the signal strength modifier μ, defined as the ratio of the observed HH production rate in the $\textrm{HH}\to {\textrm{ZZ}}^{\ast}\textrm{b}\overline{\textrm{b}}\to 4\ell \textrm{b}\overline{\textrm{b}}$ decay channel to the standard model (SM) expectation. Possible modifications of the H trilinear coupling λ$_{HHH}$ with respect to the SM value are investigated. The coupling modifier κ$_{λ}$, defined as λ$_{HHH}$ divided by its SM prediction, is constrained to be within the observed (expected) range −8.8 (−9.8) < κ$_{λ}$< 13.4 (15.0) at 95% confidence level.[graphic not available: see fulltext