42 research outputs found

    The Slow Control and the Calibration Systems of the E989 Experiment at Fermilab

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    Clinical-Genetic Features Influencing Disability in Spastic Paraplegia Type 4: A Cross-sectional Study by the Italian DAISY Network

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    Background and objectives: Hereditary spastic paraplegias (HSPs) are a group of inherited rare neurologic disorders characterized by length-dependent degeneration of the corticospinal tracts and dorsal columns, whose prominent clinical feature is represented by spastic gait. Spastic paraplegia type 4 (SPG4, SPAST-HSP) is the most common form. We present both clinical and molecular findings of a large cohort of patients, with the aim of (1) defining the clinical spectrum of SPAST-HSP in Italy; (2) describing their molecular features; and (3) assessing genotype-phenotype correlations to identify features associated with worse disability. Methods: A cross-sectional retrospective study with molecular and clinical data collected in an anonymized database was performed. Results: A total of 723 Italian patients with SPAST-HSP (58% men) from 316 families, with a median age at onset of 35 years, were included. Penetrance was 97.8%, with men showing higher Spastic Paraplegia Rating Scale (SPRS) scores (19.67 ± 12.58 vs 16.15 ± 12.61, p = 0.009). In 26.6% of patients with SPAST-HSP, we observed a complicated phenotype, mainly including intellectual disability (8%), polyneuropathy (6.7%), and cognitive decline (6.5%). Late-onset cases seemed to progress more rapidly, and patients with a longer disease course displayed a more severe neurologic disability, with higher SPATAX (3.61 ± 1.46 vs 2.71 ± 1.20, p < 0.001) and SPRS scores (22.63 ± 11.81 vs 12.40 ± 8.83, p < 0.001). Overall, 186 different variants in the SPAST gene were recorded, of which 48 were novel. Patients with SPAST-HSP harboring missense variants displayed intellectual disability (14.5% vs 4.4%, p < 0.001) more frequently, whereas patients with truncating variants presented more commonly cognitive decline (9.7% vs 2.6%, p = 0.001), cerebral atrophy (11.2% vs 3.4%, p = 0.003), lower limb spasticity (61.5% vs 44.5%), urinary symptoms (50.0% vs 31.3%, p < 0.001), and sensorimotor polyneuropathy (11.1% vs 1.1%, p < 0.001). Increasing disease duration (DD) and abnormal motor evoked potentials (MEPs) were also associated with increased likelihood of worse disability (SPATAX score>3). Discussion: The SPAST-HSP phenotypic spectrum in Italian patients confirms a predominantly pure form of HSP with mild-to-moderate disability in 75% of cases, and slight prevalence of men, who appeared more severely affected. Early-onset cases with intellectual disability were more frequent among patients carrying missense SPAST variants, whereas patients with truncating variants showed a more complicated disease. Both longer DD and altered MEPs are associated with worse disability

    Mu2e Crystal Calorimeter Readout Electronics: Design and Characterisation

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    The Mu2e experiment at Fermi National Accelerator Laboratory will search for the charged-lepton flavour-violating neutrinoless conversion of negative muons into electrons in the Coulomb field of an Al nucleus. The conversion electron with a monoenergetic 104.967 MeV signature will be identified by a complementary measurement carried out by a high-resolution tracker and an electromagnetic calorimeter, improving by four orders of magnitude the current single-event sensitivity. The calorimeter—composed of 1348 pure CsI crystals arranged in two annular disks—has a high granularity, 10% energy resolution and 500 ps timing resolution for 100 MeV electrons. The readout, based on large-area UV-extended SiPMs, features a fully custom readout chain, from the analogue front-end electronics to the digitisation boards. The readout electronics design was validated for operation in vacuum and under magnetic fields. An extensive radiation hardness certification campaign certified the FEE design for doses up to 100 krad and 1012 n1MeVeq/cm2 and for single-event effects. A final vertical slice test on the final readout chain was carried out with cosmic rays on a large-scale calorimeter prototype

    The Mu2e Crystal Calorimeter: An Overview

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    The Mu2e experiment at Fermilab will search for the standard model-forbidden, charged lepton flavour-violating conversion of a negative muon into an electron in the field of an aluminium nucleus. The distinctive signal signature is represented by a mono-energetic electron with an energy near the muon's rest mass. The experiment aims to improve the current single-event sensitivity by four orders of magnitude by means of a high-intensity pulsed muon beam and a high-precision tracking system. The electromagnetic calorimeter complements the tracker by providing high rejection power in muon to electron identification and a seed for track reconstruction while working in vacuum in presence of a 1 T axial magnetic field and in a harsh radiation environment. For 100 MeV electrons, the calorimeter should achieve: (a) a time resolution better than 0.5 ns, (b) an energy resolution <10%, and (c) a position resolution of 1 cm. The calorimeter design consists of two disks, each loaded with 674 undoped CsI crystals read out by two large-area arrays of UV-extended SiPMs and custom analogue and digital electronics. We describe here the status of construction for all calorimeter components and the performance measurements conducted on the large-sized prototype with electron beams and minimum ionizing particles at a cosmic ray test stand. A discussion of the calorimeter's engineering aspects and the on-going assembly is also reported

    Measuring gravitational effects on antimatter in space

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    A direct measurement of the gravitational acceleration of antimatter has never been performed to date. Recently, such an experiment has been proposed, using antihydrogen with an atom interferometer and an antihydrogen confinament has been realized at CERN. In alternative we propose an experimental test of the gravitational interaction with antimatter by measuring the branching fraction of the CP violating decay of KL in space. In fact, even if the theoretical Standard Model explains the CPV with the presence of pure phase in the KMC Kobaiashi-Maskava-Cabibbo matrix, ample room is left for contributions by other interactions and forces to generate CPV in the mixing of the neutral K and B mesons. Gravitation is a good candidate and we show that at the altitude of the International Space Station, gravitational effects may change the level of CP violation such that a 5 sigma discrimination may be obtained by collecting the KL produced by the cosmic proton flux within a few years

    Retinal and Visual Pathways Involvement in Carriers of Friedreich’s Ataxia

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    Friedreich’s ataxia (FRDA) is a rare autosomal recessive neurodegenerative disorder due to the homozygous pathological expansion of guanine-adenine-adenine (GAA) triplet repeats in the first intron of the FXN gene, which encodes for the mitochondrial protein frataxin. In the visual system, the typical manifestations are ocular motility abnormality, optic neuropathy, and retinopathy. Despite the evidence of ophthalmological impairment in FRDA patients, there is a lack of information about the morpho-functional condition of the retina and of the optic pathways in healthy heterozygous carriers of Friedreich’s ataxia (C-FRDA). Ten C-FRDA subjects (providing 20 eyes) and thirty-five Controls (providing 70 eyes) underwent a complete neurological and ophthalmological examination comprehensive of functional (full-field Electroretinogram (ffERG), multifocal Electroretinogram (mfERG), Visual Evoked Potential (VEP), and Pattern Reversal Electroretinogram (PERG)) and morphological assessments (Optical Coherence Tomography, OCT) of the retina, macula, retinal ganglion cells, and visual pathways. The groups’ data were compared using a two-sample t-test. Pearson’s test was used to investigate the morpho-functional correlations. Statistically significant differences (p p > 0.01) between the two Groups. Therefore, our data suggest that, in C-FRDA, a dysfunction of retinal elements without morphological macular impairment may occur. In addition, a morphological impairment of RNFL associated with an abnormal neural conduction along the visual pathways can be also detected
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