636 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

    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 Gesù (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

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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 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

    CEPC Technical Design Report: Accelerator

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    The Circular Electron Positron Collider (CEPC) is a large scientific project initiated and hosted by China, fostered through extensive collaboration with international partners. The complex comprises four accelerators: a 30 GeV Linac, al.l GeV Damping Ring, a Booster capable of achieving energies up to 180 GeV, and a Collider operating at varying energy modes (Z, W, H, and tt). The Linac and Damping Ring are situated on the surface, while the subterranean Booster and Collider are housed ina100 km circumference underground tunnel, strategically accommodating future expansion with provisions for a potential Super Proton Proton Collider (SPPC). The CEPC primarily serves as a Higgs fketory. In its baseline design with synchrotron radiation (SR) power of30 MW per beam, it can achieve a luminosity of 5 x1034 cm-2s-1 per interaction point (IP), resulting in an integrated luminosity of 13 ab 1 for two IPs over a decade, producing 2.6millionHiggsbosons. IncreasingtheSRpowerto 50MWperbeam expands the CEPC's capability to generate 4.3 million Higgs bosons, facilitating precise measurements ofHiggs coupling at sub-percent levels, exceeding the precision expected from the HLLHCbyanorderofmagnitude. This Technical Design Report(TDR) follows the Preliminary Conceptual Design Report (Pre-CDR, 2015) and the Conceptual Design Report (CDR, 2018), comprehensively detailing the machine's layout, performance metrics, physical design and analysis, technical systems design, R&D and prototyping efforts, and associated civil engineering aspects. Additionally, it includes a cost estimate and a preliminary construction timeline, establishing a framework for forthcoming engineering design phase and site selection procedures. Construction is anticipated to begin around 2027-2028, pending government approval, with an estimated duration of 8 years. The commencement of experiments and data collection could potentially be initiated in the mid-2030s
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