18 research outputs found

    Consensus statements on the information to deliver after a febrile seizure

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    Febrile seizures (FS) are usually self-limiting and cause no morbidity. Nevertheless they represent very traumatic events for families. There is a need to identify key messages that reassure carers and help to prevent inappropriate, anxiety-driven behaviors associated with “fever phobia.” No recommendations have been proposed to date regarding the content of such messages. Using a Delphi process, we have established a consensus regarding the information to be shared with families following a FS. Twenty physicians (child neurologists and pediatricians) from five European countries participated in a three-step Delphi process between May 2018 and October 2019. In the first step, each expert was asked to give 10 to 15 free statements about FS. In the second and third steps, statements were scored and selected according to the expert ranking of importance. A list of key messages for families has emerged from this process, which offer reassurance about FS based on epidemiology, underlying mechanisms, and the emergency management of FS should they recur. Interestingly, there was a high level of agreement between child neurologists and general pediatricians. Conclusion: We propose key messages to be communicated with families in the post-FS clinic setting.What is Known:• Febrile seizures (FS) are traumatic events for families.• No guidelines exist on what information to share with parents following a FS.What is New:• A Delphi process involving child neurologists and pediatricians provides consensual statement about information to deliver after a febrile seizure.• We propose key messages to be communicated with families in the post-FS clinic setting

    YWHAE loss of function causes a rare neurodevelopmental disease with brain abnormalities in human and mouse.

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    Miller-Dieker syndrome is caused by a multiple gene deletion, including PAFAH1B1 and YWHAE. Although deletion of PAFAH1B1 causes lissencephaly unambiguously, deletion of YWHAE alone has not clearly been linked to a human disorder. Cases with YWHAE variants were collected through international data sharing networks. To address the specific impact of YWHAE loss of function, we phenotyped a mouse knockout of Ywhae. We report a series of 10 individuals with heterozygous loss-of-function YWHAE variants (3 single-nucleotide variants and 7 deletions <1 Mb encompassing YWHAE but not PAFAH1B1), including 8 new cases and 2 follow-ups, added with 5 cases (copy number variants) from literature review. Although, until now, only 1 intragenic deletion has been described in YWHAE, we report 4 new variants specifically in YWHAE (3 splice variants and 1 intragenic deletion). The most frequent manifestations are developmental delay, delayed speech, seizures, and brain malformations, including corpus callosum hypoplasia, delayed myelination, and ventricular dilatation. Individuals with variants affecting YWHAE alone have milder features than those with larger deletions. Neuroanatomical studies in Ywhae <sup>-/-</sup> mice revealed brain structural defects, including thin cerebral cortex, corpus callosum dysgenesis, and hydrocephalus paralleling those seen in humans. This study further demonstrates that YWHAE loss-of-function variants cause a neurodevelopmental disease with brain abnormalities

    Des recherches participatives dans la production des savoirs liés à l'environnement

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    L'objet de ce dossier thématique est de proposer une réflexion collective sur les modalités de mise en commun des savoirs, en particulier naturalistes, pour la gestion de l'environnement, en interrogeant ce qui est devenu "la participation". Sciences participatives, recherches participatives, sciences citoyennes, la diversité des modalités de la participation se retrouve au niveau sémantique, ces termes révélant l'essor contemporain de ces démarches. Le propos de ce dossier est de présenter une diversité d'expériences, de réflexions méthodologiques, d'approches théoriques relevant de disciplines, terrains et objets de recherche différents, en mettant de côté les cloisonnements habituels (y compris entre sciences du vivant et sciences humaines et sociales, et entre continents). Ainsi, la production des connaissances naturalistes se redessine au coeur des relations entre les institutions scientifiques et les sociétés dans lesquelles ces connaissances s'inscrivent. Nous avons donc cherché à explorer les questions que posait cette dynamique en cours sur les cadres épistémologiques reconnus comme légitimes et la place des différents acteurs

    Transport of kJ-laser-driven relativistic electron beams in cold and shock-heated vitreous carbon and diamond

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    We report experimental results on relativistic electron beam (REB) transport in a set of cold and shock-heated carbon samples using the high-intensity kilojoule-class OMEGA EP laser. The REB energy distribution and transport were diagnosed using an electron spectrometer and x-ray fluorescence measurements from a Cu tracer buried at the rear side of the samples. The measured rear REB density shows brighter and narrower signals when the targets were shock-heated. Hybrid PIC simulations using advanced resistivity models in the target warm-dense-matter (WDM) conditions confirm this observation. We show that the resistivity response of the media, which governs the self-generated resistive fields, is of paramount importance to understand and correctly predict the REB transport

    Soft X-ray backlighter source driven by a short-pulse laser for pump-probe characterization of warm dense matter

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    Here we propose a pump-probe X-ray absorption spectroscopy temperature measurement technique appropriate for matter having temperature in the range of 10 to a few 100 eV and density up to solid density. Atomic modeling simulations indicate that for various low- to mid-Z materials in this range the energy and optical depth of bound-bound and bound-free absorption features are sensitive to temperature. We discuss sample thickness and tamp layer considerations. A series of experimental investigations was carried out using a range of laser parameters with pulse duration ≤5 ps and various pure and alloyed materials to identify backlighter sources suitable for the technique

    Simultaneous X-ray and XUV absorption measurements in nickel laser-produced plasma close to LTE

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    International audienceWe present an experiment performed in 2016 at the LULI2000 laser facility in which X-ray and XUV absorption structures of nickel hot plasmas were measured simultaneously. Such experiments may provide stringent tests of the accuracy of plasma atomic-physics codes used to the modeling of plasmas close to local thermodynamic equilibrium. The experimental setup relies on a symmetric heating of the sample foil by two gold hohlraums in order to reduce the spatial gradients. The plasma conditions are characterized by temperatures between 10 and 20 eV and densities of the order of 103^{−3} g/cm 3^3-102^{−2} g/cm3^3. For the X-ray part, we investigate the 2p-3d and 2p-4d transitions, and for the XUV part, we recorded the Δ\Deltan = 0 (n = 3) transitions, which present a high sensitivity to plasma temperature. These latter transitions are of particular interest because, in mid-Z plasmas, they dominate the Planck and Rosseland mean opacities. Measured spectra are compared to calculations performed using the hybrid opacity code SCO-RCG and the Flexible Atomic Code (FAC). The influence of a spectator electron on the calculated spectra is analyzed using the latter code
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