64 research outputs found

    Efficacité de détection en tomographie d'émission par positrons: une approche par intelligence artificielle

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    En Tomographie d'Émission par Positrons (TEP), la course Ă  la rĂ©solution spatiale nĂ©cessite des dĂ©tecteurs de plus en plus petits, produisant plus de diffusion Compton avec un impact nĂ©gatif sur l’efficacitĂ© de dĂ©tection du scanner. Plusieurs phĂ©nomĂšnes physiques liĂ©s Ă  cette diffusion Compton entachent tout traitement des coĂŻncidences multiples d'une erreur difficile Ă  borner et Ă  compenser, tandis que le nombre Ă©levĂ© de combinaisons de dĂ©tecteurs complexifie exponentiellement le problĂšme. Cette thĂšse Ă©value si les rĂ©seaux de neurones constituent une alternative aux solutions existantes, problĂ©matiques parce que statistiquement incertaines ou complexes Ă  mettre en Ɠuvre. La thĂšse rĂ©alise une preuve de concept pour traiter les coĂŻncidences triples et les inclure dans le processus de reconstruction, augmentant l'efficacitĂ© avec un minimum d'impact sur la qualitĂ© des images. L'atteinte des objectifs est validĂ©e via diffĂ©rents critĂšres de performance comme le gain d'efficacitĂ©, la qualitĂ© de l'image et le taux de succĂšs du calcul de la ligne de rĂ©ponse (LOR), mesurĂ©s en prioritĂ© sur des donnĂ©es rĂ©elles. Des Ă©tudes paramĂ©triques montrent le comportement gĂ©nĂ©ral de la solution : un rĂ©seau entraĂźnĂ© avec une source gĂ©nĂ©rique dĂ©montre pour le taux d'identification de la LOR une bonne indĂ©pendance Ă  la rĂ©solution en Ă©nergie ainsi qu'Ă  la gĂ©omĂ©trie des dĂ©tecteurs, du scanner et de la source, pourvu que l'on ait prĂ©traitĂ© au maximum les donnĂ©es pour simplifier la tĂąche du rĂ©seau. Cette indĂ©pendance, qui n'existe en gĂ©nĂ©ral pas dans les solutions existantes, laisse prĂ©sager d'un meilleur potentiel de gĂ©nĂ©ralisation Ă  d'autres scanners. Pour les donnĂ©es rĂ©elles du scanner LabPET[indice supĂ©rieur TM], la mĂ©thode atteint un gain d'efficacitĂ© aux alentours de 50%, prĂ©sente une dĂ©gradation de rĂ©solution acceptable et rĂ©ussit Ă  recouvrer le contraste de maniĂšre similaire aux images de rĂ©fĂ©rence, en plus de fonctionner en temps rĂ©el. Enfin, plusieurs amĂ©liorations sont anticipĂ©es

    Phenotype Presentation and Molecular Diagnostic Yield in Non-5q Spinal Muscular Atrophy

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    BACKGROUND AND OBJECTIVES: Spinal muscular atrophy (SMA) is mainly caused by homozygous SMN1 gene deletions on 5q13. Non-5q SMA patients' series are lacking, and the diagnostic yield of next-generation sequencing (NGS) is largely unknown. The aim of this study was to describe the clinical and genetic landscape of non-5q SMA and evaluate the performance of neuropathy gene panels in these disorders. METHODS: Description of patients with non-5q SMA followed in the different neuromuscular reference centers in France as well as in London, United Kingdom. Patients without a genetic diagnosis had undergone at least a neuropathy or large neuromuscular gene panel. RESULTS: Seventy-one patients from 65 different families were included, mostly sporadic cases (60.6%). At presentation, 21 patients (29.6%) showed exclusive proximal weakness (P-SMA), 35 (49.3%) showed associated distal weakness (PD-SMA), and 15 (21.1%) a scapuloperoneal phenotype (SP-SMA). Thirty-two patients (45.1%) had a genetic diagnosis: BICD2 (n = 9), DYNC1H1 (n = 7), TRPV4 (n = 4), VCP, HSBP1, AR (n = 2), VRK1, DNAJB2, MORC2, ASAH1, HEXB, and unexpectedly, COL6A3 (n = 1). The genetic diagnostic yield was lowest in P-SMA (6/21, 28.6%) compared with PD-SMA (16/35, 45.7%) and SP-SMA (10/15, 66.7%). An earlier disease onset and a family history of the disease or consanguinity were independent predictors of a positive genetic diagnosis. Neuropathy gene panels were performed in 59 patients with a 32.2% diagnostic yield (19/59). In 13 additional patients, a genetic diagnosis was achieved through individual gene sequencing or an alternative neuromuscular NGS. DISCUSSION: Non-5q SMA is genetically heterogeneous, and neuropathy gene panels achieve a molecular diagnosis in one-third of the patients. The diagnostic yield can be increased by sequencing of other neuromuscular and neurometabolic genes. Nevertheless, there is an unmet need to cluster these patients to aid in the identification of new genes

    Outgassing Behavior of C/2012 S1 (ISON) From September 2011 to June 2013

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    We report photometric observations for comet C/2012 S1 (ISON) obtained during the time period immediately after discovery (r=6.28 AU) until it moved into solar conjunction in mid-2013 June using the UH2.2m, and Gemini North 8-m telescopes on Mauna Kea, the Lowell 1.8m in Flagstaff, the Calar Alto 1.2m telescope in Spain, the VYSOS-5 telescopes on Mauna Loa Hawaii and data from the CARA network. Additional pre-discovery data from the Pan STARRS1 survey extends the light curve back to 2011 September 30 (r=9.4 AU). The images showed a similar tail morphology due to small micron sized particles throughout 2013. Observations at sub-mm wavelengths using the JCMT on 15 nights between 2013 March 9 (r=4.52 AU) and June 16 (r=3.35 AU) were used to search for CO and HCN rotation lines. No gas was detected, with upper limits for CO ranging between (3.5-4.5)E27 molec/s. Combined with published water production rate estimates we have generated ice sublimation models consistent with the photometric light curve. The inbound light curve is likely controlled by sublimation of CO2. At these distances water is not a strong contributor to the outgassing. We also infer that there was a long slow outburst of activity beginning in late 2011 peaking in mid-2013 January (r~5 AU) at which point the activity decreased again through 2013 June. We suggest that this outburst was driven by CO injecting large water ice grains into the coma. Observations as the comet came out of solar conjunction seem to confirm our models.Comment: 8 pages, 2 figures, 3 table

    Evidence of an active volcanic heat source beneath the Pine Island Glacier

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    Tectonic landforms reveal that the West Antarctic Ice Sheet (WAIS) lies atop a major volcanic rift system. However, identifying subglacial volcanism is challenging. Here we show geochemical evidence of a volcanic heat source upstream of the fast-melting Pine Island Ice Shelf, documented by seawater helium isotope ratios at the front of the Ice Shelf cavity. The localization of mantle helium to glacial meltwater reveals that volcanic heat induces melt beneath the grounded glacier and feeds the subglacial hydrological network crossing the grounding line. The observed transport of mantle helium out of the Ice Shelf cavity indicates that volcanic heat is supplied to the grounded glacier at a rate of ~ 2500 ± 1700 MW, which is ca. half as large as the active Grimsvötn volcano on Iceland. Our finding of a substantial volcanic heat source beneath a major WAIS glacier highlights the need to understand subglacial volcanism, its hydrologic interaction with the marine margins, and its potential role in the future stability of the WAIS

    A survey for variable young stars with small telescopes: VIII — Properties of 1687 Gaia selected members in 21 nearby clusters

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    The Hunting Outbursting Young Stars (HOYS) project performs long-term, optical, multi- filter, high cadence monitoring of 25 nearby young clusters and star forming regions. Utilising Gaia DR3 data we have identified about 17000 potential young stellar members in 45 coherent astrometric groups in these fields. Twenty one of them are clear young groups or clusters of stars within one kiloparsec and they contain 9143 Gaia selected potential members. The cluster distances, proper motions and membership numbers are determined. We analyse long term ( 7 yr) V, R, and I-band light curves from HOYS for 1687 of the potential cluster members. One quarter of the stars are variable in all three optical filters, and two thirds of these have light curves that are symmetric around the mean. Light curves affected by obscuration from circumstellar materials are more common than those affected by accretion bursts, by a factor of 2 – 4. The variability fraction in the clusters ranges from 10 to almost 100 percent, and correlates positively with the fraction of stars with detectable inner disks, indicating that a lot of variability is driven by the disk. About one in six variables shows detectable periodicity, mostly caused by magnetic spots. Two thirds of the periodic variables with disk excess emission are slow rotators, and amongst the stars without disk excess two thirds are fast rotators – in agreement with rotation being slowed down by the presence of a disk

    Décret, présenté par Michaud au nom du comité de législation, désapprouvant la conduite du citoyen Bardou et traduisant les citoyens Marchand, Lesueur, Crochereau et Désaignes au tribunal révolutionnaire, lors de la séance du 6 messidor an II (24 juin 1794)

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    Michaud Jean baptiste. Décret, présenté par Michaud au nom du comité de législation, désapprouvant la conduite du citoyen Bardou et traduisant les citoyens Marchand, Lesueur, Crochereau et Désaignes au tribunal révolutionnaire, lors de la séance du 6 messidor an II (24 juin 1794). In: Tome XCII - Du 1er messidor au 20 messidor An II (19 juin au 8 juillet 1794) p. 148

    Décret, présenté par Michaud au nom du comité de division, réunissant à Harfleur (Seine-Inférieure) trois municipalités des fauxbourgs, lors de la séance du 8 messidor an II (26 juin 1794)

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    Michaud Jean baptiste. Décret, présenté par Michaud au nom du comité de division, réunissant à Harfleur (Seine-Inférieure) trois municipalités des fauxbourgs, lors de la séance du 8 messidor an II (26 juin 1794). In: Tome XCII - Du 1er messidor au 20 messidor An II (19 juin au 8 juillet 1794) p. 202

    Rapport, prĂ©sentĂ© par Michaud au nom du comitĂ© de lĂ©gislation, concernant le jugement du tribunal du district d'Argenton du citoyen Bardou, accusĂ© d'avoir empĂȘchĂ© un recrutement, lors de la sĂ©ance du 6 messidor an II (24 juin 1794)

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    Michaud Jean baptiste. Rapport, prĂ©sentĂ© par Michaud au nom du comitĂ© de lĂ©gislation, concernant le jugement du tribunal du district d'Argenton du citoyen Bardou, accusĂ© d'avoir empĂȘchĂ© un recrutement, lors de la sĂ©ance du 6 messidor an II (24 juin 1794). In: Tome XCII - Du 1er messidor au 20 messidor An II (19 juin au 8 juillet 1794) pp. 146-147

    Signatures du président et des secrétaires, lors de la séance extraordinaire du 1er messidor an II (19 juin 1794) au soir

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    Laloy Pierre Antoine, Francastel Marie Pierre Adrien, Carrier Jean-Baptiste, Lesage-Senault Gaspard Jean Joseph, CambacérÚs Jean-Jacques Régis de, Briez Philippe Constant Joseph, Michaud Jean baptiste. Signatures du président et des secrétaires, lors de la séance extraordinaire du 1er messidor an II (19 juin 1794) au soir. In: Tome XCII - Du 1er messidor au 20 messidor An II (19 juin au 8 juillet 1794) p. 32

    Levée de la séance du 18 prairial an II (6 juin 1794)

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    Laloy Pierre Antoine, CambacérÚs Jean-Jacques Régis de, Francastel Marie Pierre Adrien, Carrier Jean-Baptiste, Lesage-Senault Gaspard Jean Joseph, Briez Philippe Constant Joseph, Michaud Jean baptiste. Levée de la séance du 18 prairial an II (6 juin 1794). In: Tome XCI - Du 7 prairial au 30 prairial an II (26 mai au 18 juin 1794) p. 387
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