542 research outputs found

    Implementation of the Cluster Counting and Timing technique on FPGA for the reduction of transferred data and stored information

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    Ultra-low mass and high granularity Drift Chambers fulfill the requirements of tracking systems for modern High Energy Physics experiments at future high luminosity accelerators (FCC or CEPC). The application of the Cluster Counting/Timing (CCT) technique adds a valuable particle identification capabilities with resolutions outperforming the traditional dE/dx technique. By measuring the arrival times of each individual ionization electron to the sense wire and by using suitable statistical tools it is possible to perform a bias free estimate of the impact parameter and a precise particle identification in drift chamber operating in a Helium based gas mixtures. The CCT technique consisting in identifying pulses due to different ionization electrons and in associating them in clusters according to their relative time delays, therefore it is necessary to have read-out interfaces capable of processing such high speed signals. This requires a data acquisition chain, able to manage the low amplitude signals from the sense wires (a ∌few mV) with a high bandwidth (∌1 GHz). Requirements on the drift chamber performance impose analog-to-digital conversions by a fast ADC at sample rates of at least 2 GS/s with 14-bit resolution. These constraints, together with maximum drift times and many readout channels, impose some sizeable data reduction strategy, while preserving all relevant information. Measuring both the amplitude and the arrival time of each peak in the signal associated to each ionization electron is the minimum requirement on the data transfer for storage to prevent any data loss. An electronic board including a Fast ADC and an FPGA for real-time processing of drift chamber signals is presented. The implementation of different algorithms for peaks finding are compared

    Generation of an induced pluripotent stem cell line (CSS012-A (7672)) carrying the p.G376D heterozygous mutation in the TARDBP protein

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    Amyotrophic lateral sclerosis (ALS) is an incurable neurodegenerative condition with phenotypic and genetic heterogeneity. It is characterized by the selective vulnerability and the progressive loss of the neural population. Here, an induced pluripotent stem cell (iPSC) line was generated from dermal fibroblasts of an individual carrying the p.G376D mutation in the TDP-43 protein. Fibroblasts were reprogrammed using non-integrating episomal plasmids. There were no karyotype abnormalities, and iPSCs successfully differentiated into all three germ layers. This cell line may prove useful in the study of the pathogenic mechanisms that underpin ALS syndrome

    Common atrium/atrioventricular canal defect and postaxial polydactyly: a mild clinical subtype of Ellis-van Creveld syndrome caused by hypomorphic mutations in the EVC gene

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    Clinical expression of Ellis-van Creveld syndrome (EvC) is variable and mild phenotypes have been described, including patients with mostly cardiac and limb involvement. Whether these cases are part of the EvC phenotypic spectrum or separate conditions is disputed. Herein we describe a family with vertical transmission of atrioventricular canal defect (AVCD), common atrium and postaxial polydactyly. Targeted sequencing of EVC, EVC2, WDR35, DYNC2LI1 and DYNC2H1 identified different compound heterozygosity in EVC genotypes in the two affected members, consisting of a nonsense (p.Arg622Ter) and a missense (p.Arg663Pro) variant in the father, and the same nonsense variant and a non-canonical splice-site in-frame change (c.1316-7A>G) in the daughter. cDNA sequencing, immunoblot and immunofluorescence experiments using patient-derived fibroblasts and Evc-/- mouse embryonic fibroblasts showed that p.Arg622Ter is a loss-of-function mutation, whereas p.Arg663Pro and the splice-site change c.1316-7A>G are hypomorphic variants resulting in proteins that retain, in part, the ability to complex with EVC2. Our molecular and functional data demonstrate that at least in some cases the condition characterized as "common atrium/AVCD with postaxial polydactyly" is a mild form of EvC due to hypomorphic EVC mutations, further supporting the occurrence of genotype-phenotype correlations in this syndrome. This article is protected by copyright. All rights reserved.Clinical expression of Ellis-van Creveld syndrome (EvC) is variable and mild phenotypes have been described, including patients with mostly cardiac and limb involvement. Whether these cases are part of the EvC phenotypic spectrum or separate conditions is disputed. Herein, we describe a family with vertical transmission of atrioventricular canal defect (AVCD), common atrium, and postaxial polydactyly. Targeted sequencing of EVC, EVC2, WDR35, DYNC2LI1, and DYNC2H1 identified different compound heterozygosity in EVC genotypes in the two affected members, consisting of a nonsense (p.Arg622Ter) and a missense (p.Arg663Pro) variant in the father, and the same nonsense variant and a noncanonical splice-site in-frame change (c.1316–7A>G) in the daughter. Complementary DNA sequencing, immunoblot, and immunofluorescence experiments using patient-derived fibroblasts and Evc–/– mouse embryonic fibroblasts showed that p.Arg622Ter is a loss-of-function mutation, whereas p.Arg663Pro and the splice-site change c.1316–7A>G are hypomorphic variants resulting in proteins that retain, in part, the ability to complex with EVC2. Our molecular and functional data demonstrate that at least in some cases the condition characterized as “common atrium/AVCD with postaxial polydactyly” is a mild form of EvC due to hypomorphic EVC mutations, further supporting the occurrence of genotype-phenotype correlations in this syndrome

    Particle identification with the cluster counting technique for the IDEA drift chamber

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    IDEA (Innovative Detector for an Electron–positron Accelerator) is a general-purpose detector concept, designed to study electron–positron collisions in a wide energy range in a very large circular leptonic collider. Its drift chamber is designed to provide an efficient tracking, a high precision momentum measurement and an excellent particle identification by exploiting the application of the cluster counting technique. To investigate the potential of the cluster counting techniques on physics events, a simulation of the ionization cluster generation is needed, therefore we developed an algorithm which can use the energy deposit information provided by the Geant4 toolkit to reproduce, in a fast and convenient way, the cluster number and cluster size distributions. The results obtained confirm that the cluster counting technique allows to reach a resolution two times better than the traditional dE/dx method. A beam test has been performed during November 2021 at CERN on the H8 beam line to validate the simulations results, to define the limiting effects for a fully efficient cluster counting and to count the number of electron clusters released by an ionizing track at a fixed ÎČÎł as a function of the track angle. The simulation and the beam test results will be described briefly in this issue

    Common atrium/atrioventricular canal defect and postaxial polydactyly: A mild clinical subtype of Ellis-van Creveld syndrome caused by hypomorphic mutations in the EVC gene

    No full text
    Clinical expression of Ellis‐van Creveld syndrome (EvC) is variable and mild phenotypes have been described, including patients with mostly cardiac and limb involvement. Whether these cases are part of the EvC phenotypic spectrum or separate conditions is disputed. Herein, we describe a family with vertical transmission of atrioventricular canal defect (AVCD), common atrium, and postaxial polydactyly. Targeted sequencing of EVC, EVC2, WDR35, DYNC2LI1, and DYNC2H1 identified different compound heterozygosity in EVC genotypes in the two affected members, consisting of a nonsense (p.Arg622Ter) and a missense (p.Arg663Pro) variant in the father, and the same nonsense variant and a noncanonical splice‐site in‐frame change (c.1316–7A>G) in the daughter. Complementary DNA sequencing, immunoblot, and immunofluorescence experiments using patient‐derived fibroblasts and Evc–/– mouse embryonic fibroblasts showed that p.Arg622Ter is a loss‐of‐function mutation, whereas p.Arg663Pro and the splice‐site change c.1316–7A>G are hypomorphic variants resulting in proteins that retain, in part, the ability to complex with EVC2. Our molecular and functional data demonstrate that at least in some cases the condition characterized as “common atrium/AVCD with postaxial polydactyly” is a mild form of EvC due to hypomorphic EVC mutations, further supporting the occurrence of genotype‐phenotype correlations in this syndrome.This study was supported by funding from the Italian Ministry of Health (RC‐2019) to Alessandro De Luca, Fondazione Bambino GesĂč (Vite Coraggiose) to Marco Tartaglia, and the Spanish Ministry of Science, Innovation and Universities to Victor L. Ruiz‐Perez (SAF2016‐75434‐R (AEI/FEDER, UE) and PID2019‐105620RB‐I00/AEI/10.13039/501100011033)

    Particle identification with the cluster counting technique for the IDEA drift chamber

    No full text
    IDEA (Innovative Detector for an Electron-positron Accelerator) is a general-purpose detector concept, designed to study electron-positron collisions in a wide energy range from a very large circular leptonic collider.Its drift chamber is designed to provide an efficient tracking, a high precision momentum measurement, and an excellent particle identification by exploiting the cluster counting technique. The ionization process by charged particles is the primary mechanism used for particle identification (dE/dx). However, the significant uncertainties in the total energy deposition represent a limit to the particle separation capabilities. The cluster counting technique (dN/dx) takes advantage of the Poisson nature of the primary ionization process and offers a more statistically robust method to infer mass information. This paper will describe the simulation campaign and the two beam tests performed at CERN to investigate and prove the potentials of the cluster counting technique

    Search for a high-mass dimuon resonance produced in association with b quark jets at 1as=13 TeV

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    Abstract: A search for high-mass dimuon resonance production in association with one or more b quark jets is presented. The study uses proton-proton collision data collected with the CMS detector at the LHC corresponding to an integrated luminosity of 138 fb(-1) at a center-of-mass energy of 13 TeV. Model-independent limits are derived on the number of signal events with exactly one or more than one b quark jet. Results are also interpreted in a lepton-flavor-universal model with Z boson couplings to a bb quark pair (g(b)), an sb quark pair (g(b)delta(bs)), and any same-flavor charged lepton (g(l)) or neutrino pair (g(nu)), with |g(nu)| = |g(l)|. For a Z ' boson with a mass mZ ' = 350 GeV (2 TeV) and |delta(bs)| sll measurements. In this scenario, most of the allowed parameter space is excluded for a Z ' boson with 350 < mZ ' < 500 GeV, while the constraints are less stringent for higher mZ ' hypotheses. This is the first dedicated search at the LHC for a high-mass dimuon resonance produced in association with multiple b quark jets, and the constraints obtained on models with this signature are the most stringent to date
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