Philippe JEAN-PIERRE

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• Type de publi. : Article dans une revue
• Date de publi. : 07/11/2024
• Auteurs : Annicet-Clotaire DikoumbaPierre Philippe Mbehang NguemaLeresche Even Doneilly Oyaba YindaRoméo Wenceslas LendambaJean Constan Obague MbeangGuy Roger Ndong AtomeZinga-Koumba Christophe RolandSylvain GodreuilRichard Onanga
• Organismes : Centre Interdisciplinaire de Recherches Médicales de Franceville Institut de Recherche en Ecologie Tropicale Centre Interdisciplinaire de Recherches Médicales de Franceville Centre de Recherches Médicales de Lambaréné Institut de Recherche en Ecologie Tropicale Departement de Chimie Institut de Recherche en Ecologie Tropicale Département de Bactériologie-Virologie [CHRU Montpellier] Maladies infectieuses et vecteurs : écologie, génétique, évolution et contrôle Centre Interdisciplinaire de Recherches Médicales de Franceville
• Publié dans Antibiotics le 24/10/2020

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Résumé : Background: In Gabon, studies on the characterization of extended-spectrum beta-lactamase-producing Escherichia coli in young children with diarrhoea are almost nonexistent. The objective was to evaluate the prevalence of antibiotic resistance to extended-spectrum beta-lactamase-producing Escherichia coli in children at public hospitals in Franceville, Gabon. Methods: Seventy diarrhoea faecal samples were collected from children aged 0–5 years. The culture and isolation of colonies were carried out on MacConkey agar. The colonies were identified using VITEK 2. The determination of the extended-spectrum beta-lactamase’s profiles was accomplished using the double disk method. The identification of phylogroups and pathotypes was performed by PCR. Identification of the ESBL genes was performed by sequencing. Results: A total of 26 strains of Escherichia coli (33.0%) were identified from 78 bacterial isolates. Twenty (77.0%) Escherichia coli strains carried extended-spectrum beta-lactamases blaCTX-M-15 and 5.0% carried blaSHV-12 subtypes. Phylogroup D (62.0%) was predominant, followed by B1 (12.0%), B2 (8.0%) and E (4.0%). The bacterial pathogens causing diarrhoea were enterohemorrhagic E. coli (12.0%), typical enteropathogenic Escherichia coli (8.0%), atypical enteropathogenic Escherichia coli (4.0%), Enteroaggregative Escherichia coli (4.0%) and enteroinvasive E. coli (4.0%). Conclusions: This study showed a high prevalence of extended-spectrum beta-lactamase, Escherichia coli of phylogroup D and pathotype enterohemorrhagic Escherichia coli in children under 5 years old in public hospitals in Franceville, most probably due to the misuse or inappropriate consumption of beta-lactams.

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Fichiers liés : antibiotics-13-01059.pdf

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• Type de publi. : Article dans une revue
• Date de publi. : 07/11/2024
• Auteurs : Antoine JouvenelAdrien TassouMaxime ThouayeJérôme RuelMyriam AntriJean-Philippe LeyrisAurore GiraudinSylvie MalliéChamroeum SarLucie DiouloufetCorinne SonrierFrançois DaubeufJuliette BertinStacy AlvesStéphanie VentéoNelly FrossardPatrick CarrollIlana MechalyDidier RognanPierre SokoloffRadhouane DallelPatrick DelmasJean ValmierCyril Rivat
• Organismes : Institut des Neurosciences de Montpellier Institut des Neurosciences de Montpellier Institut des Neurosciences de Montpellier Centre recherche en CardioVasculaire et Nutrition = Center for CardioVascular and Nutrition research Neuro-Dol Neuro-Dol Institut des Neurosciences de Montpellier Institut des Neurosciences de Montpellier Institut des Neurosciences de Montpellier Institut des Neurosciences de Montpellier Laboratoire d'Innovation Thérapeutique Institut des Neurosciences de Montpellier Institut des Neurosciences de Montpellier Institut des Neurosciences de Montpellier Laboratoire d'Innovation Thérapeutique Institut des Neurosciences de Montpellier Institut des Neurosciences de Montpellier Laboratoire d'Innovation Thérapeutique Neuro-Dol Centre recherche en CardioVasculaire et Nutrition = Center for CardioVascular and Nutrition research Institut des Neurosciences de Montpellier Institut des Neurosciences de Montpellier
• Publié dans Nature Communications le 23/10/2020

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Résumé : Navigating the duality of opioids' potent analgesia and side effects, including tolerance and hyperalgesia, is a significant challenge in chronic pain management, often prompting hazardous dose escalation to maintain analgesic effects. The peripheral mu-opioid receptor (MOR) is known to mediate these contradictory effects. Here, we show that the fms-like tyrosine kinase receptor 3 (FLT3) in peripheral somatosensory neurons drives morphine tolerance and hyperalgesia in a male rodent model. We found that chronic morphine treatment increases FLT3 and MOR co-expression, and that inhibiting FLT3 represses MOR-induced hyperactivation of the cyclic adenosine monophosphate (cAMP) signaling pathway, mitigating maladaptive excitatory processes engaged after chronic morphine treatment. Furthermore, in postsurgical or inflammatory models of chronic pain, co-administering morphine with a FLT3specific inhibitor not only prevents or suppresses tolerance and hyperalgesia but also potentiates the analgesic efficacy of morphine, without aggravating other morphine-induced adverse effects. Our findings suggest that pairing morphine with FLT3 inhibitors could become a promising avenue for chronic pain management to safely harness the power of opioids, without the risk of dose escalation. By enhancing morphine analgesic potency through FLT3 inhibition, this approach could minimize opioid dosage, thereby curtailing the risk of addiction and other opioid-related side effects.

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Fichiers liés : s41467-024-54054-y.pdf

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• Type de publi. : Article dans une revue
• Date de publi. : 07/11/2024
• Auteurs : Julie MésinèleManon RuffinLoïc GuillotPierre-Yves BoëlleHarriet CorvolMichel AbellyNathalie AllouBaptiste ArnouatCarole Bailly PicciniChantal BelleguicKatia BessaciTiphaine BihoueeYves BillonFrançois BremontJacques BrouardStéphanie BuiPierre-Régis BurgelBoubou CamaraKarine CampbellRaphael ChironEmmanuelle Coirier-DuetHarriet CorvolLaure CossonMarie-Laure DalphinIsabelle Danner-BoucherValérie DavidÉric DeneuvillePhilippe DomblidesStéphane DominiqueJean-Christophe DubusNadine DufeuIsabelle DurieuSandra DuryRalph EpaudAnnlyse FantonMichael FayonPierre FoucaudMichèle GerardinJean-Louis GiniesDominique GrenetMarie-Christine HeraudVéronique HoudouinDominique HubertFrédéric HuetRomain KesslerAlice LadauradeJeannes LanguepinMuriel LauransPascal Le RouxOlivier Le RouzicSylvie LeroyCathie LlerenaJulie MaceyJulie MankikianChristophe MarguetLaurent MelyMarie MittaineAnne MunckMarlène Murris-EspinNadia NathanRaphaëlle Nove-JosserandCaroline PerissonIsabelle PinSophie RamelCinthia RamesGilles RaultPhilippe ReixNatacha RemusMartine Reynaud-GaubertBénédicte Richaud-ThiriezManuëla Scalbert-DujardinIsabelle Sermet-GaudelusNathalie StremlerVéronique StorniAurélie TatopoulosGuillaume ThouveninFrançoise TroussierPhilippe VigneronLaurence WeissNathalie Wizla
• Organismes : Centre de Recherche Saint-Antoine CHU Trousseau [APHP] Sorbonne Université
• Publié dans Scientific Reports le 26/10/2020

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• Type de publi. :
• Date de publi. : 06/11/2024
• Auteurs : Junteng WuAngelica BiancoAgnès BorbonLaurent DeguillaumeEvelyn FreneyPierre AmatoJean-Luc BarayAurélie ColombMarie MonierClémence RoseEtienne BrugereLaëtitia BouvierRégis DupuyPatrick FrévilleJean-Marc PichonMickael RibeiroPhilippe CacaultAntoine CanziLéa DupontFrederic MathonatPauline NibertFrederic PeyrinRyan Puyd'HommeYi Wu
• Organismes : Laboratoire de Météorologie Physique Laboratoire de Météorologie Physique Laboratoire de Météorologie Physique Laboratoire de Météorologie Physique Observatoire de Physique du Globe de Clermont-Ferrand Laboratoire de Météorologie Physique Institut de Chimie de Clermont-Ferrand Laboratoire de Météorologie Physique Observatoire de Physique du Globe de Clermont-Ferrand Laboratoire de Météorologie Physique Laboratoire de Météorologie Physique Laboratoire de Météorologie Physique Laboratoire de Météorologie Physique Observatoire de Physique du Globe de Clermont-Ferrand Laboratoire de Météorologie Physique Observatoire de Physique du Globe de Clermont-Ferrand Observatoire de Physique du Globe de Clermont-Ferrand Laboratoire de Météorologie Physique Observatoire de Physique du Globe de Clermont-Ferrand Laboratoire de Météorologie Physique Laboratoire de Météorologie Physique Institut de Chimie de Clermont-Ferrand Laboratoire de Météorologie Physique Observatoire de Physique du Globe de Clermont-Ferrand Laboratoire de Météorologie Physique Laboratoire de Météorologie Physique Institut de Chimie de Clermont-Ferrand

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Résumé : The composition of atmospheric organic matter is extremely complex and influenced by emissions, which can be natural (such as plant emissions) or anthropogenic (linked to human activity), but also by atmospheric transformations. Organic compounds react with the main atmospheric oxidants (ozone, hydroxyl radicals and nitrate) and undergo chemical aging in this environment in different forms: in gas, condensed on particles or even dissolved in cloud droplets. The equilibrium of organic matter is managed mainly by its physicochemical properties (i.e., volatility, polarity) and environmental conditions. The atmosphere also shelters the atmospheric microbiota (a diversity of microorganisms such as bacteria, yeasts or even molds), which degrades organic matter for their metabolism and produces new compounds. These biological processes in the atmosphere potentially rise to organic transformations that are still unknown. To characterize the composition and reactivity of atmospheric organic matters in these three phases, a measurement campaign RACLET (Reactive gases, Aerosols and CLouds: Exploring organic matter Transformations) was organized by LaMP (Laboratoire de Météorologie Physique) and OPGC (Observatoire de la Physique du Globe de Clermont Ferrand) in April 2024 at the Puy de Dôme atmospheric observatory[1]. In addition to the on-going routine measurements at the observatory, the collaboration of several national and international laboratories, made it possible to deploy a wide range of state-of-the-art instruments to complete the measurement of chemical composition and meteorological conditions. These instruments included; two proton transfer mass spectrometers (PTR-Q-MS and PTR-Tof-MS), a CHemical Analysis of aeRosol ON-line module (CHARON), an Aerosol Composition and Speciation Monitor (ACSM), a fog monitor (DMT), a snow particle counter (ST Niigata), a direct optical measurement of bioaerosols (WIBS), TEM collector, a recent in-situ aerosol instrument (SMPS), and two Formaldehyde instruments (Aerolaser and PICARRO). Lidar measurements and multi-frequency radar measurements were performed at Cézeaux and Opme to characterize the vertical and horizontal extensions of the clouds sampled at puy de Dôme and of the dust event. The dynamical context was also characterized by retro trajectory calculations throughout the entire period duration of the campaign with CAT - ECMWF ERA5.

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Fichiers liés : 8th sino french workshop Bordeaux RACLET poster.pdf

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• Type de publi. : Article dans une revue
• Date de publi. : 05/11/2024
• Auteurs : Jill CorreJérôme LambertArthur BobinSalomon ManierAurore PerrotLionel KarlinMurielle RousselNoemie BigotOmar BenbrahimOlivier Thierry AllangbaPhilippe ReyVeronique DorvauxMarguerite VignonVirginie RolandReda GaridiJean-Noel BastieMarie-Lorraine ChrétienSophie GodetLydia MontesBrieuc CherelThomas ChalopinBorhane SlamaKamel LaribiClaire DingremontChristophe RoulValentine RichezClara MarietteSophie RigaudeauClaire CalmettesMamoun DibMourad TiabLaure VincentJacques DelaunayJean-Pierre MarolleauPascal GodmerLaurent FrenzelRonan Le CallochEmilie ChalayerHélène GardeneyMargaret MacroBruno RoyerOlivier DecauxBertrand ArnulfKarim Belhadj MerzougCyrille TouzeauMohamad MohtyAurelie GontierAmine KasmiPhilippe MoreauThierry FaconHerve Avet LoiseauCyrille HulinXavier Leleu
• Organismes : Institut Universitaire du Cancer de Toulouse - Oncopole Centre de Recherches en Cancérologie de Toulouse Centre hospitalier universitaire de Poitiers = Poitiers University Hospital CIC Poitiers – Centre d'investigation clinique de Poitiers (CIC 1402) Université de Lille Hétérogénéité, Plasticité et Résistance aux Thérapies des Cancers = Cancer Heterogeneity, Plasticity and Resistance to Therapies - UMR 9020 - U 1277 Centre Hospitalier Régional Universitaire [CHU Lille] Centre de Recherches en Cancérologie de Toulouse Immuno-Biologie des Lymphomes [CIRI] Service d’Hématologie [Centre Hospitalier Lyon Sud - HCL] Contrôle de la Réponse Immune B et des Lymphoproliférations Service de biostatistique et information médicale de l’hôpital Saint Louis (Equipe ECSTRA) Hopital Saint-Louis [AP-HP] Centre Hospitalier Regional d'Orléans Centre Léon Bérard [Lyon] Centre hospitalier régional de Metz-Thionville Hôpital Cochin [AP-HP] Université de Mons = University of Mons Université de Versailles Saint-Quentin-en-Yvelines Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand Lipides - Nutrition - Cancer [Dijon - U1231] Hôpital Robert Debré CHU Amiens-Picardie Centre hospitalier Bretagne Atlantique (Morbihan) Centre Hospitalier Henri Duffaut (Avignon) Centre Hospitalier Le Mans (CH Le Mans) CHU Amiens-Picardie HEMATIM - Hématopoïèse et immunologie - UR UPJV 4666
• Publié dans Blood le 28/10/2020

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Résumé : Introduction: Isa-VRd significantly increased the MRD negative rate at 10-5 (NGS) at 18 months compared to IsaRd (OR for MRD negativity 3.16, 95%CI 1.89-5.28, p<0.0001), the primary endpoint of BENEFIT study, including in high-risk (HR) NDMM TI. HR was initially defined using the IFM linear predictor (LP) cytogenetic score(HR if LP >1)according to Perrot et al in BENEFIT. The IMS has recently attempted to standardize the HR definition based on several genomic abnormalities alone [deletion 17p in more than 20% of sorted plasma cells, TP53 mutation, del(1p32)del/del] or in combination [t(4;14) or t(14;16) or t(14;20) +gain/amp 1q or del(1p32)del/wt, gain/amp 1q +del(1p32)del/wt].We planned to investigate the efficacy of Isa-VRd over IsaRd in HR NDMM TI using the novel definition. Methods: BENEFIT is a prospective, multicenter, randomized, open-label, phase 3 study done at 68 IFM study sites in France. Patients were randomized 1:1 and stratified by age, centers and high-risk MM to receive Isa-VRd or IsaRd. Isa-VRd arm received V weekly for 12 months then day 1 and 15 up to 18 months; both arms received a classical IsaRd with d permanently discontinued at 12 months. At a median follow-up of 23.5 months, a total of 270 patients were enrolled with 135 assigned to either Isa-VRd or IsaRd arms, and received at least one dose of treatment. Data are presented in ITT. IMS new HR definition was defined based on targeted next generation sequencing of sorted plasma cells. Results: HR features characterized 32 (24%) patients and 24 (18%) across Isa-VRd or IsaRd arms using the IMS HR definition. Deletion 17p 10 (7%) and 7 (5%), TP53 mutation 6 (4%) and 5 (4%), del(1p32)del/del 1 (1%) and 0, t(4;14) or t(14;16) or t(14;20) +gain/amp 1q or del(1p32)del/wt 13 (10%) and 10 (7%), gain/amp 1q +del(1p32)del/wt 6 (4%) and 5 (4%), respectively across arms. Overall, the new IMS HR definition reclassified 30 (13%) NDMM TI patients in the HR category compared to the IFM LP score. Of note, the HR patients according to the IFM LP score were all considered HR by the new IMS definition.The 18-months MRD negativity rate at 10-5 was higher for Isa-VRd in high-risk NDMM TI with the IMS HR definition, 18 (56%) and 6 (25%) across arms, [odds ratio (OR) for MRD negativity in Isa-VRD group compared to IsaRd group was 3.86 (95%CI, 1.2 to 12.3)]. Similar data were observed at 10-6 at 18 months, 16 (50%) and 6 (25%) across arms [OR 3.00 (95%CI, 0,95 to 9.52)]. Higher MRD negativity rates were also observed at 12 months at both 10-5 and 10-6 and in patients with a response ≥ CR and MRD negative status in Isa-VRd in HR NDMM TI.The 18-month MRD negativity rate at 10-5 was higher for Isa-VRd also in NON high-risk NDMM TI (IMS HR definition) [OR 3.00 (95%CI, 1.7 to 5.3)], as well as at 10-6 [OR 2.61 (95%CI, 1.3 to 5.0)] and at 12 months at both 10-5 and 10-6 thresholds and in patients with a response ≥ CR and MRD negative status. Although no statistically significant interaction was detected across HR and NON HR, the greater benefit of IsaVRD vs. IsaRd for MRD negativity was systematically higher for HR patients, regardless of the timepoints (12 months, 18 months), MRD thresholds (10-5 or 10-6) and MRD negativity definition (≥CR or not) Conclusions: The results from the BENEFIT study demonstrated meaningful benefit of the quadruplet-based Isa-VRd regimen compared to IsaRd in all NDMM TI patients. Of importance, the benefit of the Isa-VRd regimen was greater in HR compared to NON HR NDMM TI patients. This data supports Isa-VRd as a new SOC for NDMM TI aged of 65 to 79 patients over the current triplet-based SOC DRd, particularly for HR NDMM TI.

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• Type de publi. :
• Date de publi. : 04/11/2024
• Auteurs : Mina GhobrialPhilippe SeitierMichel GalaupPierre LagarriguePatrick Gilles
• Organismes : Institut Clément Ader Institut Clément Ader Institut national universitaire Champollion Education, Formation, Travail, Savoirs Institut Clément Ader Institut Clément Ader
• Publié dans Lecture Notes in Mechanical Engineering le 21/10/2020

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Résumé : This study presents the development and evaluation of a Mixed Reality (MR) tool called HoloPrint, designed to assist students in learning how to use a Filament Deposition Machine (FDM) for 3D printing. The HoloPrint tool combines a MR headset with a pedagogical scenario based on teacher feedback and is tailored to the expected competency profiles of students. The proof of concept phase focuses on understanding how users adopt this novel way of interacting with a combined virtual and real environment while accomplishing the scenario's objectives. A homogenous population of 81 first-year engineering students at INSA Toulouse was selected to participate in the study. The experiment was conducted during practical work sessions with 8 classes, each consisting of 10 students. The study evaluated the success rate of students using HoloPrint and assessed the tool's usability and usefulness through the System Usability Scale (SUS) questionnaire. Results indicate a high success rate of 98.8% for students using HoloPrint to print objects without assistance. The average SUS score for the tool was 79.69, indicating “Good” acceptability and nearing “Excellent.” Furthermore, prior experience with 3D printers or VR headsets did not significantly impact the success rate or SUS scores, suggesting the tool's effectiveness in aiding both novice and experienced students. In conclusion, the study demonstrates the potential of Mixed Reality as an effective and user-friendly tool for training students on a simple additive manufacturing machines, it enables the researchers to conduct further experimentation on more complex additive manufacturing machines.

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• Type de publi. : Article dans une revue
• Date de publi. : 04/11/2024
• Auteurs : Julian TheurietMarion MasingueAnthony BehinAna FerreiroGuillaume BassezPauline JaubertOriana TarabayFrédéric FerAntoine PegatFrançoise BouhourJuliette SvahnPhilippe PetiotLaurentiu JomirGuy ChauplannazCatherine Cornut-ChauvincVéronique ManelEmmanuelle Salort-CampanaShahram AttarianEtienne FortanierAnnie VerschuerenLudivine KoutonJean-Philippe CamdessanchéCéline TardArmelle MagotYann PéréonJean-Baptiste NouryMarie-Christine Minot-MyhieMaud PerieFrederic TaitheYacine FarhatAnne-Laure MilletPascal CintasGuilhem SoléMarco SpinazziFlorence EsselinDimitri RenardSabrina SacconiAndra EzaruEdoardo MalfattiMartial MallaretLaurent MagyEva DiabPhilippe MerleMaud MichaudMaxime FournierAleksandra Nadaj PaklezaJean-Baptiste ChansonClaire LefeuvrePascal LaforetPascale RichardDamien SternbergRocio-Nur Villar-QuilesTanya StojkovicBruno Eymard
• Organismes : Hôpital neurologique et neurochirurgical Pierre Wertheimer [CHU - HCL] Physiopathologie et génétique du neurone et du muscle CHU Pitié-Salpêtrière [AP-HP] CHU Pitié-Salpêtrière [AP-HP] Unité de Biologie Fonctionnelle et Adaptative Institut de Myologie CHU Pitié-Salpêtrière [AP-HP] CHU Pitié-Salpêtrière [AP-HP] Institut de Myologie CHU Pitié-Salpêtrière [AP-HP] Institut de Myologie CHU Pitié-Salpêtrière [AP-HP] Institut de Myologie CHU Pitié-Salpêtrière [AP-HP] Centre de recherche en Myologie – U974 SU-INSERM Hospices Civils de Lyon Physiopathologie et génétique du neurone et du muscle Hôpital neurologique et neurochirurgical Pierre Wertheimer [CHU - HCL] Hôpital neurologique et neurochirurgical Pierre Wertheimer [CHU - HCL] Service d'Electroneuromyographie et Service de Neurologie C [Hôpital Pierre Wertheimer - HCL] Hôpital neurologique et neurochirurgical Pierre Wertheimer [CHU - HCL] Hospices Civils de Lyon Hôpital neurologique et neurochirurgical Pierre Wertheimer [CHU - HCL] Hospices Civils de Lyon Hôpital neurologique et neurochirurgical Pierre Wertheimer [CHU - HCL] Hospices Civils de Lyon Hospices Civils de Lyon Centre Hospitalier Lyon Sud [CHU - HCL] Centre Hospitalier Lyon Sud [CHU - HCL] Hospices Civils de Lyon Hôpital de la Timone [CHU - APHM] Filière Neuromusculaire Hôpital de la Timone [CHU - APHM] Neurologie, maladies neuro-musculaires [Hôpital de la Timone - APHM] Neuro-Oncologie [Hôpital de la Timone - APHM] Neuro-Oncologie [Hôpital de la Timone - APHM] Centre Hospitalier Universitaire de Saint-Etienne [CHU Saint-Etienne] Lille Neurosciences & Cognition - U 1172 Centre Hospitalier Universitaire de Nantes = Nantes University Hospital Centre de référence des Maladies Neuromusculaires AOC Centre Hospitalier Universitaire de Nantes = Nantes University Hospital Centre de référence des Maladies Neuromusculaires AOC Centre de Reference des Maladies Neuromusculaires - Atlantique Occitanie Caraïbe Centre Hospitalier Régional Universitaire de Brest Lymphocytes B, Autoimmunité et Immunothérapies Service de Neurologie [CHU Rennes] CHU Gabriel Montpied [Clermont-Ferrand] CHU Gabriel Montpied [Clermont-Ferrand] Institut de Myologie CHU Pitié-Salpêtrière [AP-HP] CHU Charles-Nicolle Département Neurologie [CHU Toulouse] Centre de référence des Maladies Neuromusculaires AOC Centre Hospitalier Universitaire de Bordeaux Centre de reference des maladies neuromusculaires Nantes-Angers, CHU d'Angers et Nantes Hôpital Gui de Chauliac [CHU Montpellier] Service de Neurologie [CHU Nimes] Service de Neurologie [CHU Nice] Service de Neurologie [CHU Nice] IMRB - "Biologie du système neuromusculaire" [Créteil] [GIN] Grenoble Institut des Neurosciences Service de Neurologie [CHU Limoges] CHU Amiens-Picardie CHirurgie, IMagerie et REgénération tissulaire de l’extrémité céphalique - Caractérisation morphologique et fonctionnelle - UR UPJV 7516 CHU Amiens-Picardie Centre Hospitalier Régional Universitaire de Nancy CHU Caen Normandie – Centre Hospitalier Universitaire de Caen Normandie Service de Neurologie [CHU Strasbourg] ERN EURO-NMD – European Reference Network for Rare Neuromuscular Diseases Service de Neurologie [CHU Strasbourg] ERN EURO-NMD – European Reference Network for Rare Neuromuscular Diseases Hôpital Raymond Poincaré [AP-HP] Hôpital Raymond Poincaré [AP-HP] Université Paris-Saclay UFR Sciences de la santé Simone Veil CHU Pitié-Salpêtrière [AP-HP] CHU Pitié-Salpêtrière [AP-HP] Institut de Myologie CHU Pitié-Salpêtrière [AP-HP] Centre de recherche en Myologie – U974 SU-INSERM Institut de Myologie CHU Pitié-Salpêtrière [AP-HP] Centre de recherche en Myologie – U974 SU-INSERM Institut de Myologie CHU Pitié-Salpêtrière [AP-HP] Centre de recherche en Myologie – U974 SU-INSERM
• Publié dans Brain - A Journal of Neurology le 29/10/2020

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Résumé : Congenital myasthenic syndromes (CMS) are clinically and genetically heterogeneous diseases caused by mutations affecting neuromuscular transmission. Even if the first symptoms mainly occur during childhood, adult neurologists must confront this challenging diagnosis and manage these patients throughout their adulthood. However, long-term follow-up data from large cohorts of CMS patients are lacking, and the long-term prognosis of these patients is largely unknown. We report the clinical features, diagnostic difficulties, and long-term prognosis of a French nationwide cohort of 235 adult patients with genetically confirmed CMS followed in 23 specialized neuromuscular centres. Data were retrospectively analysed. Of the 235 patients, 123 were female (52.3%). The diagnosis was made in adulthood in 139 patients, 110 of whom presented their first symptoms before the age of 18. Mean follow-up time between first symptoms and last visit was 34 years [standard deviation (SD) = 15.1]. Pathogenic variants were found in 19 disease-related genes. CHRNE-low expressor variants were the most common (23.8%), followed by variants in DOK7 (18.7%) and RAPSN (14%). Genotypes were clustered into four groups according to the initial presentation: ocular group (CHRNE-LE, CHRND, FCCMS), distal group (SCCMS), limb-girdle group (RAPSN, COLQ, DOK7, GMPPB, GFPT1), and a variable-phenotype group (MUSK, AGRN). The phenotypical features of CMS did not change throughout life. Only four genotypes had a proportion of patients requiring intensive care unit admission that exceeded 20%: RAPSN (54.8%), MUSK (50%), DOK7 (38.6%) and AGRN (25.0%). In RAPSN and MUSK patients most ICU admissions occurred before age 18 years and in DOK7 and AGRN patients at or after 18 years of age. Different patterns of disease course (stability, improvement and progressive worsening) may succeed one another in the same patient throughout life, particularly in AGRN, DOK7 and COLQ. At the last visit, 55% of SCCMS and 36.3% of DOK7 patients required ventilation; 36.3% of DOK7 patients, 25% of GMPPB patients and 20% of GFPT1 patients were wheelchair-bound; most of the patients who were both wheelchair-bound and ventilated were DOK7 patients. Six patients died in this cohort. The positive impact of therapy was striking, even in severely affected patients. In conclusion, even if motor and/or respiratory deterioration could occur in patients with initially moderate disease, particularly in DOK7, SCCMS and GFPT1 patients, the long-term prognosis for most CMS patients was favourable, with neither ventilation nor wheelchair needed at last visit. CHRNE-LE patients did not worsen during adulthood and RAPSN patients, often severely affected in early childhood, subsequently improved.

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Fichiers liés : awae124.pdf

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• Type de publi. : Article dans une revue
• Date de publi. : 02/11/2024
• Auteurs : Marco SchlosserJulie GonneaudStefano PolettiRomain BouetOlga KlimeckiFabienne ColletteNatalie MarchantGaël ChételatAntoine LutzClaire AndréFlorence AllaisJulien AsselineauEider Arenaza-UrquijoSebastian BaezMartine BatchelorAxel BeaugoninMaelle BottonPierre ChampetierAnne ChocatPascal DelamillieureVincent de la SayetteMarion DelarueHarriet Demnitz-KingTiti DolmaStéphanie EgretFrancesca FelisattiEglantine Ferrand-DevougesEric FrisonFrancis GheysenAgathe Joret PhilippeElizabeth KuhnBrigitte LandeauGwendoline LeduValérie LefrancFlorence MezengeInès MoulinetValentin OurryCassandre PalixLéo PalyGéraldine PoisnelAnne QuillardGéraldine RauchsFlorence RequierÉric SalmonCorrine SchwimmerEdelweiss TouronCaitlin WareTim Whitfield
• Organismes : University College of London [London] Université de Genève = University of Geneva Physiopathologie et imagerie des troubles neurologiques Université de Caen Normandie Institut Blood and Brain @ Caen-Normandie [Caen] GIP Cyceron Centre de recherche en neurosciences de Lyon - Lyon Neuroscience Research Center Centre de recherche en neurosciences de Lyon - Lyon Neuroscience Research Center University of Geneva Medical School Université de Liège = University of Liège = Universiteit van Luik = Universität Lüttich CRC Human imaging : Cyclotron Research Center Human Imaging [GIGA, Université de Liège] University College of London [London] Physiopathologie et imagerie des troubles neurologiques GIP Cyceron Centre de recherche en neurosciences de Lyon - Lyon Neuroscience Research Center Physiopathologie et imagerie des troubles neurologiques GIP Cyceron Bordeaux population health Centre Hospitalier Universitaire de Bordeaux Mayo Clinic [Rochester] Université de Caen Normandie Physiopathologie et imagerie des troubles neurologiques Institut Blood and Brain @ Caen-Normandie [Caen] Neuropsychologie et imagerie de la mémoire humaine GIP Cyceron Physiopathologie et imagerie des troubles neurologiques Institut Blood and Brain @ Caen-Normandie [Caen] GIP Cyceron Service de psychiatrie [CHU Caen] Université de Caen Normandie Service de Neurologie [CHU Caen]
• Publié dans Scientific Reports le 26/10/2020

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• Type de publi. : Article dans une revue
• Date de publi. : 02/11/2024
• Auteurs : Maëna Le CorvecMarwin FarrugiaEric Nguyen-KhacJean-Marc RégimbeauAbdennaceur DhahriDenis ChatelainLitavan KhamphommalaAnne-Lise GautierNathalie Le BerreSébastien FreyJean-Pierre BronowickiLaurent BrunaudChloé MaréchalMarie-Cécile BlanchetVincent FreringJean DelwaideLaurent KohnenAlexandre HaumannPhilippe DelvenneMarine Sarfati-LebretonHugues TarielJérôme BernardAlexis ToullecJérôme BoursierPierre BedossaPhilippe GualRodolphe AntyAntonio Iannelli
• Organismes : DIAFIR Centre méditerranéen de médecine moléculaire CHU Amiens-Picardie Groupe de Recherche sur l'alcool et les pharmacodépendances - UMR INSERM_S 1247 UPJV Simplification des soins chez les patients complexes - UR UPJV 7518 Chirurgie digestive [CHU Amiens] Chirurgie digestive [CHU Amiens] Simplification des soins chez les patients complexes - UR UPJV 7518 Anatomie et Cytologie Pathologiques [CHU Amiens] CHirurgie, IMagerie et REgénération tissulaire de l’extrémité céphalique - Caractérisation morphologique et fonctionnelle - UR UPJV 7516 Simplification des soins chez les patients complexes - UR UPJV 7518 Centre Hospitalier Privé Saint-Grégoire [Saint-Gregoire] Centre Hospitalier Privé Saint-Grégoire [Saint-Gregoire] Hôpital Archet 2 [Nice] Université Côte d'Azur Centre Hospitalier Universitaire de Nice Imagerie Adaptative Diagnostique et Interventionnelle Centre Hospitalier Régional Universitaire de Nancy Nutrition-Génétique et Exposition aux Risques Environnementaux Centre Hospitalier Régional Universitaire de Nancy Imagerie Adaptative Diagnostique et Interventionnelle Centre Hospitalier Régional Universitaire de Nancy Clinique de la Sauvegarde [Lyon] Clinique de la Sauvegarde [Lyon] Centre Hospitalier Universitaire de Liège Centre Hospitalier Universitaire de Liège Centre Hospitalier Universitaire de Liège Université de Liège = University of Liège = Universiteit van Luik = Universität Lüttich Centre Hospitalier Universitaire de Liège Université d'Angers Centre Hospitalier Universitaire d'Angers DIAFIR DIAFIR DIAFIR Université d'Angers Centre Hospitalier Universitaire d'Angers Hôpital Beaujon [AP-HP] Centre méditerranéen de médecine moléculaire Centre méditerranéen de médecine moléculaire Centre méditerranéen de médecine moléculaire
• Publié dans Scientific Reports le 26/10/2020

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Résumé : Metabolic dysfunction-associated steatotic liver disease (MASLD) is common in individuals with obesity. Sexual dimorphism is present in MASLD. A noninvasive test to diagnose the severity of the disease, in particular the presence of Metabolic dysfunction-associated steatohepatitis (MASH), is lacking. This European multicenter prospective study uses a blood test based on mid-infrared (MIR) metabolic fingerprinting of individuals with severe or morbid obesity to diagnose MASH. Three hundred eighty-two individuals with severe or morbid obesity undergoing bariatric surgery were enrolled prospectively. Liver biopsies were obtained during surgery and assessed centrally. An algorithm was defined to calculate a score from the recorded MIR spectrum and to establish a diagnostic threshold to classify patients with MASH. Among the women (n = 217), MASH was diagnosed in 14.3% of cases. For women, the performance in terms of AUC were 0.83 and 0.82 in the calibration and validation groups, respectively. For a threshold of 0.1817, sensitivities were 86% and 70%, specificities were 81% and 75%, PPV were 43% and 32%, NPV were 97% and 94% and ACC were 82% and 74% for the calibration and validation groups, respectively. For men (n = 78; MASH: 33.3%), the performance of the spectral model was poor. The metabolic fingerprint obtained by MIR spectroscopy can rule out MASH in women with severe or morbid obesity. Its value in men needs new studies.

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• Type de publi. : Article dans une revue
• Date de publi. : 02/11/2024
• Auteurs : Pierre DurozardAdil MaaroufW ZaaraouiJan-Patrick StellmannClémence BoutièreAudrey RicoSarah DemortièreMaxime GuyeArnaud Le TroterHugo DaryJean-Philippe RanjevaBertrand AudoinJean Pelletier
• Organismes : Centre de résonance magnétique biologique et médicale Centre d'Exploration Métabolique par Résonance Magnétique [Hôpital de la Timone - APHM]
• Publié dans Investigative Radiology le 31/10/2020

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Résumé : Objectives Compelling evidence indicates a significant involvement of cortical lesions in the progressive phase of multiple sclerosis (MS), significantly contributing to late-stage disability. Despite the promise of ultra-high-field magnetic resonance imaging (MRI) in detecting cortical lesions, current evidence falls short in providing insights into the existence of such lesions during the early stages of MS or their underlying cause. This study delineated, at the early stage of MS, (1) the prevalence and spatial distribution of cortical lesions identified by 7 T MRI, (2) their relationship with white matter lesions, and (3) their clinical implications. Materials and Methods Twenty individuals with early-stage relapsing-remitting MS (disease duration <1 year) underwent a 7 T MRI session involving T1-weighted MP2RAGE, T2*-weighted multiGRE, and T2-weighted FLAIR sequences for cortical and white matter segmentation. Disability assessments included the Expanded Disability Status Scale, the Multiple Sclerosis Functional Composite, and an extensive evaluation of cognitive function. Results Cortical lesions were detected in 15 of 20 patients (75%). MP2RAGE revealed a total of 190 intracortical lesions (median, 4 lesions/case [range, 0–44]) and 216 leukocortical lesions (median, 2 lesions/case [range, 0–75]). Although the number of white matter lesions correlated with the total number of leukocortical lesions ( r = 0.91, P < 0.001), no correlation was observed between the number of white matter or leukocortical lesions and the number of intracortical lesions. Furthermore, the number of leukocortical lesions but not intracortical or white-matter lesions was significantly correlated with cognitive impairment ( r = 0.63, P = 0.04, corrected for multiple comparisons). Conclusions This study highlights the notable prevalence of cortical lesions at the early stage of MS identified by 7 T MRI. There may be a potential divergence in the underlying pathophysiological mechanisms driving distinct lesion types, notably between intracortical lesions and white matter/leukocortical lesions. Moreover, during the early disease phase, leukocortical lesions more effectively accounted for cognitive deficits.

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Fichiers liés : 2024_Investigative_Radiology.pdf

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