74 results on '"C. Labeyrie"'
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2. Neuropathies périphériques au cours des maladies de système : partie I (connectivites et granulomatoses)
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L. Pacoureau, F. Urbain, L. Venditti, G. Beaudonnet, C. Cauquil, C. Adam, C. Goujard, O. Lambotte, D. Adams, C. Labeyrie, and N. Noel
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Gastroenterology ,Internal Medicine - Published
- 2023
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3. Treating hereditary transthyretin amyloidosis: Present & future challenges
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A, Echaniz-Laguna, C, Cauquil, C, Labeyrie, and D, Adams
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Neurology ,Neurology (clinical) - Abstract
Hereditary transthyretin amyloidosis (ATTRv) is a rare, lethal, autosomal dominant adult-onset genetic gain-of function (GOF) disorder provoked by mutations in the TTR gene. Until recently, therapeutic options were limited and consisted mainly in liver transplantation and TTR-stabilizers. In the last few years, ATTRv has been at the center of major therapeutic breakthroughs, including development of effective small interfering RNA (siRNA) and antisense oligonucleotide (ASO) treatments targeting liver TTR mRNA. Both siRNA (patisiran) and ASO (inotersen) treatments are now commercially available and have dramatically improved ATTRv neurological outcome. Ongoing clinical trials currently evaluate another siRNA, vutrisiran and a novel ASO formulation, eplontersen. A CRISPR-Cas9-based TTR gene editing treatment is also currently evaluated, with encouraging preliminary results. These recent therapeutic developments demonstrate the shifting paradigm of ATTRv, a previously untreatable and lethal disorder and provide a proof-of-concept for developing siRNA, ASO and CRISPR-Cas9 treatments for other GOF genetic disorders.
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- 2023
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4. How should we diagnose CNS involvement of transthyretin amyloidosis?
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C. Hamimed, H. Lahousse, L. Defebvre, C. Labeyrie, C. Bruge, and C. Tard
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Neurology ,Neurology (clinical) - Published
- 2023
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5. Actualités dans les neuropathies amyloïdes
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C. Labeyrie, Cécile Cauquil, David Adams, and Andoni Echaniz-Laguna
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03 medical and health sciences ,0302 clinical medicine ,030212 general & internal medicine ,Neurology (clinical) ,030217 neurology & neurosurgery - Abstract
Resume Les neuropathies amyloides sont le plus souvent hereditaires a transthyretine (TTR). Leur mode de presentation est pleiomorphe pouvant mimer plusieurs types de neuropathies ; le diagnostic doit etre suspecte devant toute neuropathie evolutive axonale idiopathique, PIDC atypique, a fortiori si associee a l’un des elements suivants : (i) des antecedents familiaux similaires ; (ii) des particularites neuropathiques (signes vegetatifs, syndrome de canal carpien bilateral, troubles de la marche) ; (iii) signes systemiques. Le test genetique par sequencage du gene de la TTR est l’outil diagnostique clef. De nouveaux biomarqueurs d’interet emergent pour detecter tot la maladie chez les porteurs de variant TTR ou monitorer l’efficacite des traitements de fonds : densite des fibres nerveuses intra epidermiques, neurofilaments a chaines legeres plasmatiques ainsi que le taux de TTR serique. Trois medicaments ont aujourd’hui l’AMM pour les NAH-TTR, le stabilisateur de TTR : tafamidis au stade 1, l’oligonucleotide anti-sens inotersen et l’ARN interferent patisiran aussi bien aux stades 1 et 2 (marche avec aide) de la neuropathie. Les 2 premiers permettent de ralentir la progression de la maladie ; le patisiran permet le plus souvent de stopper voire d’ameliorer la neuropathie. La majorite des patients atteints de NAH-TTR ont acces aujourd’hui a un traitement de fonds anti-amyloide.
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- 2021
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6. Évaluation de la réponse aux traitements des neuropathies périphériques associées aux hémopathies lymphoïdes B : analyse d’une cohorte rétrospective sur 9 ans
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M. Le Guen, C. Labeyrie, U. Fanny, L. Venditti, C. Cauquil, G. Beaudonnet, A. Echaniz Laguna, O. Lambotte, D. Adams, and N. Nicolas
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Gastroenterology ,Internal Medicine - Published
- 2022
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7. Atteinte cérébelleuse d’origine auto-immune : à propos de deux cas avec hypermétabolisme cérébelleux
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Flavie Bompaire, C. Labeyrie, I. Taifas, Dimitri Psimaras, F. Robert-Grandjean, H. Le Floch Brocquevieille, Damien Ricard, J.-B. Brunet de Courssou, M.A. Castilla-Lievre, M. Sallansonnet-Froment, M.-L. Brechemier, and C. Tafani
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03 medical and health sciences ,0302 clinical medicine ,030212 general & internal medicine ,Neurology (clinical) ,030217 neurology & neurosurgery - Abstract
Resume Nous rapportons deux cas originaux de myoclonies corticales d’apparition subaigue et d’origine probablement auto-immune — et paraneoplasique dans l’un des cas — bien qu’aucun auto-anticorps n’ait ete identifie. L’IRM cerebrale etait normale dans les deux cas mais la tomographie par emission de positron (TEP)-scanner cerebral montrait un hypermetabolisme inhabituel du cervelet, rarement rapporte dans la litterature. L’aggravation dans un cas sous traitement inhibiteur de point de controle immunitaire (« immune checkpoint inhibitor ») ainsi que l’amelioration clinique des deux patients sous traitement immunosuppresseur nous conforte dans l’hypothese d’une origine auto-immune. En nous basant sur ces deux cas, nous discutons les differentes etiologies d’atteintes cerebelleuses tardives en axant la discussion sur les atteintes auto-immunes, encore imparfaitement comprises pour la plupart et au sein desquelles de nouvelles entites cliniques emergent comme l’ataxie cerebelleuse auto-immune primitive.
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- 2020
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8. Efficacité du patisiran après passage du tafamidis au patisiran pour le traitement de l’amylose héréditaire à transthyrétine (hATTR) avec polyneuropathie
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C. Labeyrie, M. Merkel, S. Sethi, L. Popadic, H. Yang, H. Lin, A.F. Lainé, and D. Adams
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Gastroenterology ,Internal Medicine - Published
- 2022
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9. Urinary tract infections and multiple sclerosis: Recommendations from the French Multiple Sclerosis Society
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C. Donzé, C. Papeix, C. Lebrun-Frenay, C. Lebrun-Frénay, N. Collongues, M. de Seze, A. Dinh, A. Even, C. Scheiber-Nogueira, C. Bensa, B. Bourre, C. Carra-Dallière, J. Ciron, M. Cohen, A.M. Guennoc, C. Louapre, F. Lebreton, L. Michel, E. Maillart, B. Audoin, X. Ayrignac, P. Bernady, B. Brochet, P. Clavelou, R. Colamarino, A. Declemy, J. de Seze, N. Derache, J.-M. Faucheux, O. Heinzlef, P. Labauge, D. Laplaud, E. Lepage, E. Leray, L. Magy, G. Mathey, C. Mekies, V. Mondain, E. Planque, J. Pelletier, S. Pittion, B. Stankhof, P. Tournaire, E. Thouvenot, S. Vukusic, S. Wiertlevski, H. Zephir, H. Alchaar, G. Androdias, M. Benazet, D. Bensmail, D. Biotti, A. Blanchard-Dauphin, M. Bonnan, C. Boutière, P. Branger, S. Bresch, J.-P. Bru, J.-P. Camdessanché, E. Castel Canal, M. Coustans, O. Casez, B. Castan, A. Creange, E. Creisson, T. De Broucker, R. Depaz, X. Douay, C. Dulau, F. Durand-Dubief, O. Fagniez, M. Faucher, A. Floch, M. Fournier, A. Fromont, P. Gallien, X. Gamé, D. Gault, A. Gayou, M. Giroux, O. Gout, J. Grimaud, P. Hautecoeur, A. Kerbrat, L. Kremer, A. Kwiatkowski, C. Labeyrie, S. Lachaud, C. Lanctin-Garcia, L. Lanotte, E. Manchon, A. Maurousset, A.-M. Milor, X. Moisset, A. Mont-Cuquet, T. Moreau, J.-C. Ouallet, I. Patry, D. Peaureaux, M.-C. Pouget, V. Pourcher Martinez, C. Radot, A. Ruet, C. Saint-Val, A. Salmon, F. Taithe, P. Tatevin, M. Vaillant, J.-P. Stahl, F. Vuoto, C. Zaenker, Hôpital Saint Philibert [Lomme], Groupement des Hôpitaux de l'Institut Catholique de Lille (GHICL), Université catholique de Lille (UCL)-Université catholique de Lille (UCL), CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Université Nice Sophia Antipolis (1965 - 2019) (UNS), COMUE Université Côte d'Azur (2015-2019) (COMUE UCA), Centre Hospitalier Universitaire de Nice (CHU Nice), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Université de Montpellier (UM), Centre Hospitalier Universitaire de Nîmes (CHU Nîmes), Institut de Génomique Fonctionnelle (IGF), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS), Groupe Hospitalier de l'Institut Catholique de Lille (GHICL), Service de Neurologie [CHU Pitié-Salpêtrière], IFR70-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Université Nice Sophia Antipolis (... - 2019) (UNS), Université de Montpellier (UM)-Université Montpellier 1 (UM1)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Montpellier 2 - Sciences et Techniques (UM2)-Centre National de la Recherche Scientifique (CNRS), Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), and Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)
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medicine.medical_specialty ,Urinary system ,Population ,MESH: Urinary Tract Infections ,urologic and male genital diseases ,Practice guidelines ,Hypogammaglobulinemia ,Multiple sclerosis ,03 medical and health sciences ,0302 clinical medicine ,MESH: Pregnancy ,Health care ,medicine ,Urinary tracts infections ,In patient ,030212 general & internal medicine ,Intensive care medicine ,education ,Asymptomatic bacteriuria ,Pregnancy ,education.field_of_study ,MESH: Humans ,Disease modifying therapy ,business.industry ,MESH: Multiple Sclerosis ,medicine.disease ,female genital diseases and pregnancy complications ,3. Good health ,MESH: Recurrence ,Neurology ,[SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC] ,Neurology (clinical) ,business ,MESH: Female ,030217 neurology & neurosurgery ,[SDV.MHEP]Life Sciences [q-bio]/Human health and pathology - Abstract
Objectives Establish recommendations for the management of UTIs in MS patients. Background Urinary tract infections (UTIs) are common during multiple sclerosis (MS) and are one of the most common comorbidities potentially responsible for deaths from urinary sepsis. Methods The recommendations attempt to answer three main questions about UTIs and MS. The French Group for Recommendations in MS (France4MS) did a systematic review of articles from PubMed and universities databases (01/1980–12/2019). The RAND/UCLA appropriateness method, which has been developed to synthesize the scientific literature and expert opinions on health care topics, was used for reaching a formal agreement. 26 MS experts worked on the full-text review and a group of 70 multidisciplinary health care specialists validated the final evaluation of summarized evidences. Results UTIs are not associated with an increased risk of relapse and permanent worsening of disability. Only febrile UTIs worsen transient disability through the Uhthoff phenomenon. Some immunosuppressive treatments increase the risk of UTIs in MS patients and require special attention especially in case of hypogammaglobulinemia. Experts recommend to treat UTIs in patients with MS, according to recommendations of the general population. Prevention of recurrent UTIs requires stabilization of the neurogenic bladder. In some cases, weekly oral cycling antibiotics can be proposed after specialist advice. Asymptomatic bacteriuria should not be screened for or treated systematically except in special cases (pregnancy and invasive urological procedures). Conclusion Physicians and patients should be aware of the updated recommendations for UTis and MS.
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- 2020
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10. [Autologous hematopoietic stem cell transplantation for chronic inflammatory demyelinating polyneuropathy]
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F, Urbain, C, Labeyrie, C, Castilla-Llorente, P, Cintas, A, Puma, N, Maubeuge, M, Puyade, and D, Farge
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Immunomodulation ,Polyradiculoneuropathy, Chronic Inflammatory Demyelinating ,Hematopoietic Stem Cell Transplantation ,Humans ,Transplantation, Autologous ,Autoimmune Diseases - Abstract
Chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) is a dysimmune neuropathy with sensory and/or motor symptoms due to destruction of the myelin sheat secondary to an auto-immune attack. A quarter to a third of patients do not respond to immunomodulatory first line recommended therapies. No second line treatment has shown its effectiveness with a sufficient level of evidence. Autologous hematopoietic stem cell transplantation (AHSCT) is a promising therapy for autoimmune disease, especially for CIDP in recent works. We present in this article an update on the diagnosis of CIDP, its conventional treatments as well as the results of AHSCT in this indication, which was the subject of French recommendations under the aegis of the SFGMTC and neuromuscular disease french faculty (FILNEMUS) as a third line therapy after failure of two first-line and one second-line treatments.
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- 2020
11. Sarcoïdose médullaire mimant une myélopathie cervico-arthrosique : mauvais pronostic après chirurgie
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F, Urbain, C, Labeyrie, A, Herbrecht, G, Nasser, C, Cauquil, C, Adam, O, Lambotte, C, Goujard, D, Adams, N, Noel, AP-HP Hôpital Bicêtre (Le Kremlin-Bicêtre), Immunologie des maladies virales, auto-immunes, hématologiques et bactériennes (IMVA-HB), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris-Saclay, Institut des Maladies Emergentes et des Thérapies Innovantes (IMETI), and Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Saclay
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Adult ,Male ,Sarcoidosis ,[SDV]Life Sciences [q-bio] ,Laminectomy ,Middle Aged ,Prognosis ,Spinal Cord Diseases ,Laminoplasty ,Diagnosis, Differential ,Postoperative Complications ,Treatment Outcome ,Cervical Vertebrae ,Disease Progression ,Humans ,Female ,Spinal Cord Compression ,Aged ,Diskectomy ,Retrospective Studies - Abstract
International audience; IntroductionCervical spinal sarcoidosis can mimic compressive cervical myelopathy leading to potentially harmful surgical procedures before the diagnosis can be made.MethodsRetrospective description of 3 patients and review of the literature.ResultsTwenty-seven patients (16 men/11 women), median age 58 years [range 29–74] were described. Neurosurgical procedures consisted of laminectomy (n = 10), laminoplasty (n = 15) and anterior discectomy (n = 2). Immediately after surgery, 17 patients (63%) worsened or remained disabled. Among the 10 patients who improved, 9 worsened secondarily. The analysis of preoperative MRI showed T2 hypersignal lesions and contrast enhancement in all patients. Neurological symptoms were inaugural in 25/27 patients, and systemic involvement of the sarcoidosis was found after surgery in 15/27 patients. After surgery, all patients received corticosteroids, along with immunosuppressive therapy in 8 cases/27. After a follow-up of 24 [16–72] months; 13 patients were stabilized or worsened, 7 were partially improved. Three died of other cause. Only 5 recovered without sequelae.ConclusionIn patients with compressive cervical myelopathy, leptomeningeal contrast enhancement, a T2-weighted hypersignal exceeding the compression level on MRI, and the presence of extraneurological symptoms should point to inflammatory disease. These rare manifestations may be the first symptoms of sarcoidosis and should be recognized to avoid harmful surgical procedures and to provide appropriate medical treatment.; IntroductionLes sarcoïdoses médullaires cervicales peuvent ressembler à des myélopathies cervico-arthrosiques compressives, pouvant conduire à des interventions chirurgicales délétères avant le rétablissement du diagnostic.MéthodesDescription rétrospective de trois patients et revue de la littérature.RésultatsVingt-sept patients (16 hommes/11 femmes), d’âge médian 58 ans [étendue : 29–74] ont été décrits. Les procédures neurochirurgicales consistaient en : laminectomie (n = 10), laminoplastie (n = 15) et discectomie antérieure (n = 2). Immédiatement après la chirurgie, l’état de 17 patients (63 %) s’aggravait ou demeurait stable. Parmi les 10 patients dont l’état s’améliorait, celui de 9 empirait secondairement. L’analyse de l’IRM préopératoire montrait des lésions en hypersignal T2 et une prise de contraste chez tous les patients. L’atteinte neurologique était inaugurale pour 25 des 27 patients. Quinze avaient une atteinte systémique. Après la chirurgie, tous les patients recevaient des corticoïdes, associés à un immunosuppresseur dans 8 cas/27. Après un suivi de 24 [16–72] mois, 15 patients étaient stabilisés ou aggravés, 7 étaient améliorés, mais gardaient un handicap fonctionnel. Trois décédaient d’une autre cause. Seuls cinq avaient récupéré sans séquelles.ConclusionDevant un tableau de myélopathie cervico-arthrosique, des atypies telles qu’une prise de contraste leptoméningée, un hypersignal T2 en IRM dépassant le site de compression et la présence de signes extraneurologiques doivent faire rechercher une maladie inflammatoire neurologique. Ces présentations rares peuvent être inaugurales de la sarcoïdose et doivent être reconnues afin d’éviter des interventions chirurgicales néfastes et proposer un traitement médical adapté.
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- 2020
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12. New OFSEP recommendations for MRI assessment of multiple sclerosis patients: Special consideration for gadolinium deposition and frequent acquisitions
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Jean-Christophe Brisset, Stephane Kremer, Salem Hannoun, Fabrice Bonneville, Francoise Durand-Dubief, Thomas Tourdias, Christian Barillot, Charles Guttmann, Sandra Vukusic, Vincent Dousset, Francois Cotton, R. Ameli, R. Anxionnat, B. Audoin, A. Attye, E. Bannier, C. Barillot, D. Ben Salem, M.-P. Boncoeur-Martel, G. Bonhomme, F. Bonneville, C. Boutet, J.C. Brisset, F. Cervenanski, B. Claise, O. Commowick, J.-M. Constans, F. Cotton, P. Dardel, H. Desal, V. Dousset, F. Durand-Dubief, J.-C. Ferre, A. Gaultier, E. Gerardin, T. Glattard, S. Grand, T. Grenier, R. Guillevin, C. Guttmann, A. Krainik, S. Kremer, S. Lion, N. Menjot De Champfleur, L. Mondot, O. Outteryck, N. Pyatigorskaya, J.-P. Pruvo, S. Rabaste, J.-P. Ranjeva, J.-A. Roch, J.-C. Sadik, D. Sappey-Marinier, J. Savatovsky, B. Stankoff, J.-Y. Tanguy, A. Tourbah, T. Tourdias, B. Brochet, R. Casey, J. De Sèze, P. Douek, F. Guillemin, D. Laplaud, C. Lebrun-Frenay, L. Mansuy, T. Moreau, J. Olaiz, J. Pelletier, C. Rigaud-Bully, S. Vukusic, M. Debouverie, G. Edan, J. Ciron, C. Lubetzki, P. Vermersch, P. Labauge, G. Defer, E. Berger, P. Clavelou, O. Gout, E. Thouvenot, O. Heinzlef, A. Al-Khedr, B. Bourre, O. Casez, P. Cabre, A. Montcuquet, A. Créange, J.-P. Camdessanché, S. Bakchine, A. Maurousset, I. Patry, T. De Broucker, C. Pottier, J.-P. Neau, C. Labeyrie, C. Nifle, Hôpital de Hautepierre [Strasbourg], Nehme and Therese Tohme Multiple Sclerosis Center [Beyrouth, Liban] (AUBMC), American University of Beirut Medical Center [Beyrouth, Liban] (AUBMC), American University of Beirut [Beyrouth] (AUB)-American University of Beirut [Beyrouth] (AUB), Neuroradiologie Diagnostique et Thérapeutique [Toulouse], Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-CHU Toulouse [Toulouse]-Hôpital Purpan [Toulouse], CHU Toulouse [Toulouse], Hôpital neurologique et neurochirurgical Pierre Wertheimer [CHU - HCL], Hospices Civils de Lyon (HCL), INSERM, Neurocentre Magendie, U1215, Physiopathologie de la Plasticité Neuronale, F-33000 Bordeaux, France, Empenn, Institut National de la Santé et de la Recherche Médicale (INSERM)-Inria Rennes – Bretagne Atlantique, Institut National de Recherche en Informatique et en Automatique (Inria)-Institut National de Recherche en Informatique et en Automatique (Inria)-SIGNAUX ET IMAGES NUMÉRIQUES, ROBOTIQUE (IRISA-D5), Institut de Recherche en Informatique et Systèmes Aléatoires (IRISA), Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Institut National des Sciences Appliquées - Rennes (INSA Rennes), Institut National des Sciences Appliquées (INSA)-Université de Rennes (UNIV-RENNES)-Institut National des Sciences Appliquées (INSA)-Université de Bretagne Sud (UBS)-École normale supérieure - Rennes (ENS Rennes)-Institut National de Recherche en Informatique et en Automatique (Inria)-CentraleSupélec-Centre National de la Recherche Scientifique (CNRS)-IMT Atlantique Bretagne-Pays de la Loire (IMT Atlantique), Institut Mines-Télécom [Paris] (IMT)-Institut Mines-Télécom [Paris] (IMT)-Université de Rennes 1 (UR1), Institut Mines-Télécom [Paris] (IMT)-Institut Mines-Télécom [Paris] (IMT)-Institut de Recherche en Informatique et Systèmes Aléatoires (IRISA), Institut National des Sciences Appliquées (INSA)-Université de Rennes (UNIV-RENNES)-Institut National des Sciences Appliquées (INSA)-Université de Bretagne Sud (UBS)-École normale supérieure - Rennes (ENS Rennes)-CentraleSupélec-Centre National de la Recherche Scientifique (CNRS)-IMT Atlantique Bretagne-Pays de la Loire (IMT Atlantique), Institut Mines-Télécom [Paris] (IMT)-Institut Mines-Télécom [Paris] (IMT), Center for Neurological Imaging, Departments of Radiology and Neurology, Centre Hospitalier Lyon Sud [CHU - HCL] (CHLS), Centre de Recherche en Acquisition et Traitement de l'Image pour la Santé (CREATIS), Université Jean Monnet [Saint-Étienne] (UJM)-Hospices Civils de Lyon (HCL)-Institut National des Sciences Appliquées de Lyon (INSA Lyon), Institut National des Sciences Appliquées (INSA)-Université de Lyon-Institut National des Sciences Appliquées (INSA)-Université de Lyon-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM), Observatoire Français de la Sclérose En Plaques [Lyon] (OFSEP), Service de neuroradiologie [Lyon], Hospices Civils de Lyon (HCL)-Hospices Civils de Lyon (HCL), Département de neuroradiologie diagnostique et thérapeutique [CHRU Nancy], Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), Neurologie, maladies neuro-musculaires [Hôpital de la Timone - APHM], Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE), Service de neuroradiologie [Grenoble], CHU Grenoble, Laboratoire de Traitement de l'Information Medicale (LaTIM), Institut National de la Santé et de la Recherche Médicale (INSERM)-IMT Atlantique Bretagne-Pays de la Loire (IMT Atlantique), Institut Mines-Télécom [Paris] (IMT)-Institut Mines-Télécom [Paris] (IMT)-Centre Hospitalier Régional Universitaire de Brest (CHRU Brest)-Université de Brest (UBO)-Institut Brestois Santé Agro Matière (IBSAM), Université de Brest (UBO), Service de Radiologie et Imagerie Médicale [CHU Limoges], CHU Limoges, Auteur indépendant, Centre Hospitalier Universitaire de Saint-Etienne (CHU de Saint-Etienne), CHU Clermont-Ferrand, CHU Amiens-Picardie, Centre hospitalier universitaire de Nantes (CHU Nantes), CHU Caen, Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN), Hôpital des Charpennes [CHU - HCL], Centre Hospitalier Universitaire [Grenoble] (CHU), Centre hospitalier universitaire de Poitiers (CHU Poitiers), CHU Montpellier, Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Hôpital Pasteur [Nice] (CHU), Hôpital Roger Salengro [Lille], CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Aix Marseille Université (AMU), Fondation Ophtalmologique Adolphe de Rothschild [Paris], Université Claude Bernard Lyon 1 (UCBL), Université de Lyon, Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM), Hôpital Raymond Poincaré [AP-HP], CHU de Bordeaux Pellegrin [Bordeaux], Biopathologie de la Myéline, Neuroprotection et Stratégies Thérapeutiques (BMNST), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM), Union pour la lutte contre la sclérose en plaques (UNISEP), Centre d'investigation clinique [Nancy] (CIC), Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lorraine (UL), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Hôpital de la Timone [CHU - APHM] (TIMONE), Fondation Eugène Devic EDMUS, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Hôpital Gui de Chauliac, Université Montpellier 1 (UM1)-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Centre Hospitalier Régional Universitaire de Besançon (CHRU Besançon), CHU Gabriel Montpied [Clermont-Ferrand], Hôpital Universitaire Carémeau [Nîmes] (CHU Nîmes), Centre Hospitalier Universitaire de Nîmes (CHU Nîmes), centre hospitalier intercommunal de Poissy/Saint-Germain-en-Laye - CHIPS [Poissy], Hôpital Charles Nicolle [Rouen], Hôpital Pierre Zobda-Quitman [CHU de la Martinique], CHU de la Martinique [Fort de France], Hôpital Dupuytren [CHU Limoges], Hôpital Henri Mondor, Centre Hospitalier Universitaire de Reims (CHU Reims), Hôpital Bretonneau, Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), Centre Hospitalier Sud Francilien, CH Evry-Corbeil, Hôpital Delafontaine, Centre Hospitalier de Saint-Denis [Ile-de-France], Centre Hospitalier René Dubos [Pontoise], AP-HP Hôpital Bicêtre (Le Kremlin-Bicêtre), Centre Hospitalier de Versailles André Mignot (CHV), French State, 'Investments for the Future', Eugène Devic EDMUS Foundation, ARSEP Foundation, Service Neuroradiologie Diagnostique et Thérapeutique [CHU Toulouse], Pôle imagerie médicale [CHU Toulouse], Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)-Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Neurocentre Magendie : Physiopathologie de la Plasticité Neuronale (U1215 Inserm - UB), Université de Bordeaux (UB)-Institut François Magendie-Institut National de la Santé et de la Recherche Médicale (INSERM), Neuroimagerie: méthodes et applications (Empenn), Université de Rennes (UR)-Institut National des Sciences Appliquées - Rennes (INSA Rennes), Institut National des Sciences Appliquées (INSA)-Institut National des Sciences Appliquées (INSA)-Université de Bretagne Sud (UBS)-École normale supérieure - Rennes (ENS Rennes)-Institut National de Recherche en Informatique et en Automatique (Inria)-CentraleSupélec-Centre National de la Recherche Scientifique (CNRS)-IMT Atlantique (IMT Atlantique), Institut Mines-Télécom [Paris] (IMT)-Institut Mines-Télécom [Paris] (IMT)-Université de Rennes (UR)-Institut National des Sciences Appliquées - Rennes (INSA Rennes), Institut National des Sciences Appliquées (INSA)-Institut National des Sciences Appliquées (INSA)-Université de Bretagne Sud (UBS)-École normale supérieure - Rennes (ENS Rennes)-CentraleSupélec-Centre National de la Recherche Scientifique (CNRS)-IMT Atlantique (IMT Atlantique), Université de Lyon-Université de Lyon-Institut National des Sciences Appliquées de Lyon (INSA Lyon), Université de Lyon-Institut National des Sciences Appliquées (INSA)-Institut National des Sciences Appliquées (INSA)-Université Jean Monnet - Saint-Étienne (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Université de Brest (UBO)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre Hospitalier Régional Universitaire de Brest (CHRU Brest)-IMT Atlantique (IMT Atlantique), Institut Mines-Télécom [Paris] (IMT)-Institut Mines-Télécom [Paris] (IMT)-Institut Brestois Santé Agro Matière (IBSAM), Centre Hospitalier Universitaire de Saint-Etienne [CHU Saint-Etienne] (CHU ST-E), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Hôpital Gui de Chauliac [CHU Montpellier], Centre hospitalier intercommunal de Poissy/Saint-Germain-en-Laye - CHIPS [Poissy], CHU Rouen, Normandie Université (NU)-Normandie Université (NU), Université de Bretagne Sud (UBS)-Institut National des Sciences Appliquées - Rennes (INSA Rennes), Institut National des Sciences Appliquées (INSA)-Université de Rennes (UNIV-RENNES)-Institut National des Sciences Appliquées (INSA)-Université de Rennes (UNIV-RENNES)-Institut National de Recherche en Informatique et en Automatique (Inria)-École normale supérieure - Rennes (ENS Rennes)-Centre National de la Recherche Scientifique (CNRS)-Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-CentraleSupélec-IMT Atlantique Bretagne-Pays de la Loire (IMT Atlantique), Institut Mines-Télécom [Paris] (IMT)-Institut Mines-Télécom [Paris] (IMT)-Université de Bretagne Sud (UBS)-Institut National des Sciences Appliquées - Rennes (INSA Rennes), Institut National des Sciences Appliquées (INSA)-Université de Rennes (UNIV-RENNES)-Institut National des Sciences Appliquées (INSA)-Université de Rennes (UNIV-RENNES)-École normale supérieure - Rennes (ENS Rennes)-Centre National de la Recherche Scientifique (CNRS)-Université de Rennes 1 (UR1), Université de Lyon-Institut National des Sciences Appliquées (INSA)-Université de Lyon-Institut National des Sciences Appliquées (INSA)-Université Claude Bernard Lyon 1 (UCBL), Université de Lorraine (UL)-Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy)-Institut National de la Santé et de la Recherche Médicale (INSERM), CCSD, Accord Elsevier, and Université de Lyon-Institut National des Sciences Appliquées (INSA)-Institut National des Sciences Appliquées (INSA)-Hospices Civils de Lyon (HCL)-Université Jean Monnet - Saint-Étienne (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)
- Subjects
medicine.medical_specialty ,Consensus ,Multiple Sclerosis ,Gadolinium ,chemistry.chemical_element ,Contrast Media ,Fluid-attenuated inversion recovery ,030218 nuclear medicine & medical imaging ,Cohort Studies ,03 medical and health sciences ,0302 clinical medicine ,Atrophy ,Quality of life ,Medicine ,Humans ,Radiology, Nuclear Medicine and imaging ,[SDV.NEU] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC] ,Adverse effect ,Radiological and Ultrasound Technology ,medicine.diagnostic_test ,business.industry ,Progressive multifocal leukoencephalopathy ,Multiple sclerosis ,Brain ,Magnetic resonance imaging ,medicine.disease ,Image Enhancement ,Magnetic Resonance Imaging ,3. Good health ,chemistry ,OFSEP ,[SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC] ,Neurology (clinical) ,Radiology ,business ,030217 neurology & neurosurgery - Abstract
Purpose New multiple sclerosis (MS) disease-modifying therapies (DMTs), which exert beneficial effects through prevention of relapse, limitation of disability progression, and improvement of patients’ quality of life, have recently emerged. Nonetheless, these DMTs are not without associated complications (severe adverse events like. progressive multifocal leukoencephalopathy). Patient follow-up requires regular clinical evaluations and close monitoring with magnetic resonance imaging (MRI). Detection of new T2 lesions and potential brain atrophy measurements contribute to the evaluation of treatment effectiveness. Current MRI protocols for MS recommend the acquisition of an annual gadolinium (Gd) enhanced MRI, resulting in administration of high volume of contrast agents over time and Gd accumulation in the brain. Methods A consensus report was established by neuroradiologists and neurologists from the French Observatory of MS, which aimed at reducing the number of Gd injections required during MS patient follow-up. Recommendations The French Observatory of MS recommends the use of macrocyclic Gd enhancement at time of diagnosis, when a new DMT is introduced, at 6-month re-baseline, and when previous scans are unavailable for comparison. Gd administration can be performed as an option in case of relapse or suspicion of intercurrent disease such as progressive multifocal leukoencephalopathy. Other follow-up MRIs do not require contrast enhancement, provided current and previous MRI acquisitions follow the same standardized protocol including 3D FLAIR sequences.
- Published
- 2020
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13. Immunization and multiple sclerosis: Recommendations from the French Multiple Sclerosis Society
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C. Lebrun, S. Vukusic, V. Abadie, C. Achour, F. Ader, H. Alchaar, A. Alkhedr, F. Andreux, G. Androdias, R. Arjmand, B. Audoin, D. Audry, D. Aufauvre, C. Autreaux, X. Ayrignac, M. Bailbe, M. Benazet, C. Bensa, D. Bensmail, E. Berger, P. Bernady, Y. Bertagna, D. Biotti, A. Blanchard-Dauphin, J. Bonenfant, M. Bonnan, B. Bonnemain, F. Borgel, E. Botelho-Nevers, S. Boucly, B. Bourre, C. Boutière, P. Branger, D. Brassat, S. Bresch, V. Breuil, B. Brochet, H. Brugeilles, P. Bugnon, P. Cabre, J.-P. Camdessanché, C. Carra-Dalière, O. Casez, J.-M. Chamouard, B. Chassande, P. Chataignier, M. Chbicheb, A. Chenet, J. Ciron, P. Clavelou, M. Cohen, R. Colamarino, N. Collongues, I. Coman, P.-R. Corail, S. Courtois, M. Coustans, A. Creange, E. Creisson, N. Daluzeau, C. Davenas, J. De Seze, M. Debouverie, R. Depaz, N. Derache, L. Divio, X. Douay, C. Dulau, F. Durand-Dubief, G. Edan, Z. Elias, O. Fagniez, M. Faucher, J.-M. Faucheux, M. Fournier, A. Gagneux-Brunon, P. Gaida, P. Galli, P. Gallien, J. Gaudelus, D. Gault, A. Gayou, M. Genevray, A. Gentil, J. Gere, L. Gignoux, M. Giroux, P. Givron, O. Gout, J. Grimaud, A.-M. Guennoc, N. Hadhoum, P. Hautecoeur, O. Heinzlef, M. Jaeger, S. Jeannin, L. Kremer, A. Kwiatkowski, P. Labauge, C. Labeyrie, S. Lachaud, I. Laffont, C. Lanctin-Garcia, J. Lannoy, L. Lanotte, D. Laplaud, D. Latombe, M. Lauxerois, E. Le Page, C. Lebrun-Frenay, P. Lejeune, P. Lejoyeux, B. Lemonnier, E. Leray, C.-M. Loche, C. Louapre, C. Lubetzki, A. Maarouf, B. Mada, L. Magy, E. Maillart, E. Manchon, R. Marignier, P. Marque, G. Mathey, A. Maurousset, C. Mekies, M. Merienne, L. Michel, A.-M. Milor, X. Moisset, A. Montcuquet, T. Moreau, N. Morel, M. Moussa, J.-P. Naudillon, M. Normand, P. Olive, J.-C. Ouallet, O. Outteryck, C. Pacault, C. Papeix, I. Patry, D. Peaureaux, J. Pelletier, B. Pichon, S. Pittion, E. Planque, M.-C. Pouget, V. Pourcher, C. Radot, I. Robert, F. Rocher, A. Ruet, C. Saint-Val, J.-Y. Salle, A. Salmon, E. Sartori, S. Schaeffer, B. Stankhof, F. Taithe, E. Thouvenot, C. Tizon, A. Tourbah, P. Tourniaire, M. Vaillant, P. Vermersch, S. Vidil, A. Wahab, M.-H. Warter, S. Wiertlewski, B. Wiplosz, B. Wittwer, C. Zaenker, H. Zephir, Université Côte d'Azur (UCA), Centre Hospitalier Lyon Sud [CHU - HCL] (CHLS), Hospices Civils de Lyon (HCL), Centre de recherche en neurosciences de Lyon (CRNL), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Université Jean Monnet [Saint-Étienne] (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Hosp Civils Lyon, Serv Malad Infect, Lyon, France, Biogéosciences [UMR 6282] [Dijon] (BGS), Centre National de la Recherche Scientifique (CNRS)-Université de Bourgogne (UB)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement, Centre de résonance magnétique biologique et médicale (CRMBM), Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)-Centre National de la Recherche Scientifique (CNRS), CHU Montpellier, Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), CHU Pontchaillou [Rennes], CHU Saint-Etienne, Centre d'Exploration Métabolique par Résonance Magnétique [Hôpital de la Timone - AP-HM] (CEMEREM), Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)-Centre National de la Recherche Scientifique (CNRS)-Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)-Centre National de la Recherche Scientifique (CNRS)- Hôpital de la Timone [CHU - APHM] (TIMONE), Comité de Développement Horticole du Centre Val de Loire (CDHRC), Génétique, physiopathologie et ingénierie du tissu osseux (GéPITOS), Centre National de la Recherche Scientifique (CNRS)-Université Nice Sophia Antipolis (... - 2019) (UNS), COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-Université Côte d'Azur (UCA), Service d'Etudes du Comportement des Matériaux de Conditionnement (SECM), Commissariat à l'énergie atomique et aux énergies alternatives (CEA), Galaxies, Etoiles, Physique, Instrumentation (GEPI), Institut national des sciences de l'Univers (INSU - CNRS)-Observatoire de Paris, Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Université Paris Diderot - Paris 7 (UPD7)-Centre National de la Recherche Scientifique (CNRS), Service de Neurologie [Rennes] = Neurology [Rennes], Excitabilité nerveuse et thérapeutique (ENT), Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12)-EA 4391, Service de Physiologie Explorations Fonctionnelles-Hôpital Henri Mondor, Maladies chroniques, santé perçue, et processus d'adaptation (APEMAC), Université de Lorraine (UL), RMN et optique : De la mesure au biomarqueur, Centre de Recherche en Acquisition et Traitement de l'Image pour la Santé (CREATIS), Université Jean Monnet [Saint-Étienne] (UJM)-Hospices Civils de Lyon (HCL)-Institut National des Sciences Appliquées de Lyon (INSA Lyon), Université de Lyon-Institut National des Sciences Appliquées (INSA)-Université de Lyon-Institut National des Sciences Appliquées (INSA)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Jean Monnet [Saint-Étienne] (UJM)-Hospices Civils de Lyon (HCL)-Institut National des Sciences Appliquées de Lyon (INSA Lyon), Université de Lyon-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM), Combustion Research Facility, Sandia National Laboratories - Corporation, Service de Pédiatrie [Jean Verdier], Université Paris 13 (UP13)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Jean Verdier [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Kuriwa Observatory, Fondation Ophtalmologique Adolphe de Rothschild [Paris], Laboratoire de Mécanique, Modélisation et Procédés Propres (M2P2), Centre National de la Recherche Scientifique (CNRS)-École Centrale de Marseille (ECM)-Aix Marseille Université (AMU), Institut de biologie et chimie des protéines [Lyon] (IBCP), Université de Lyon-Université de Lyon-Centre National de la Recherche Scientifique (CNRS), Euromov (EuroMov), Université de Montpellier (UM), Centre de Recherche en Transplantation et Immunologie (U1064 Inserm - CRTI), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Nantes - UFR de Médecine et des Techniques Médicales (UFR MEDECINE), Université de Nantes (UN)-Université de Nantes (UN), Université Nice Sophia Antipolis - Faculté de Médecine (UNS UFR Médecine), Université Nice Sophia Antipolis (... - 2019) (UNS), COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-COMUE Université Côte d'Azur (2015-2019) (COMUE UCA), Recherche en Pharmaco-épidémiologie et Recours aux Soins (REPERES), Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-École des Hautes Études en Santé Publique [EHESP] (EHESP), École des Hautes Études en Santé Publique [EHESP] (EHESP), Département Méthodes quantitatives en santé publique (METIS), Institut du Cerveau et de la Moëlle Epinière = Brain and Spine Institute (ICM), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Biologie des Interactions Neurones / Glie, Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de Neurologie [CHU Pitié-Salpêtrière], IFR70-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Service de Neurologie [CHU Clermont-Ferrand], CHU Gabriel Montpied [Clermont-Ferrand], CHU Clermont-Ferrand-CHU Clermont-Ferrand-CHU Estaing [Clermont-Ferrand], CHU Clermont-Ferrand, Centre Hospitalier Régional Universitaire de Besançon (CHRU Besançon), Laboratoire d'automatique et de génie des procédés (LAGEP), Université de Lyon-Université de Lyon-École Supérieure Chimie Physique Électronique de Lyon-Centre National de la Recherche Scientifique (CNRS), CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Haras National Suisse, Centre Hospitalier Universitaire de Reims (CHU Reims), Center for health studies, Service de neurologie [Nantes], Université de Nantes (UN)-Centre hospitalier universitaire de Nantes (CHU Nantes)-Hôpital Guillaume-et-René-Laennec [Saint-Herblain], Hospices Civils de Lyon, Centre de recherche en neurosciences de Lyon - Lyon Neuroscience Research Center (CRNL), Biogéosciences [UMR 6282] (BGS), Université de Bourgogne (UB)-Centre National de la Recherche Scientifique (CNRS), Hôpital de la Timone [CHU - APHM] (TIMONE)-Centre de résonance magnétique biologique et médicale (CRMBM), Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)-Centre National de la Recherche Scientifique (CNRS)-Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)-Centre National de la Recherche Scientifique (CNRS), Université Nice Sophia Antipolis (1965 - 2019) (UNS), COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-Centre National de la Recherche Scientifique (CNRS)-Université Côte d'Azur (UCA), Hôpital Henri Mondor-EA 4391, Service de Physiologie Explorations Fonctionnelles-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Université de Lyon-Université de Lyon-Institut National des Sciences Appliquées de Lyon (INSA Lyon), Université de Lyon-Institut National des Sciences Appliquées (INSA)-Institut National des Sciences Appliquées (INSA)-Hospices Civils de Lyon (HCL)-Université Jean Monnet [Saint-Étienne] (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Institut National des Sciences Appliquées (INSA)-Institut National des Sciences Appliquées (INSA)-Hospices Civils de Lyon (HCL)-Université Jean Monnet [Saint-Étienne] (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Université de Lyon-Université de Lyon-École Supérieure de Chimie Physique Électronique de Lyon (CPE)-Centre National de la Recherche Scientifique (CNRS), Université de Lyon-Université de Lyon-Université Jean Monnet - Saint-Étienne (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Centre Hospitalier Universitaire de Saint-Etienne [CHU Saint-Etienne] (CHU ST-E), Centre d'Exploration Métabolique par Résonance Magnétique [Hôpital de la Timone - APHM] (CEMEREM), Comité de développement horticole de la région Centre-Val-de-Loire (CDHR CENTRE-VAL-DE-LOIRE), Université de Lyon-Institut National des Sciences Appliquées (INSA)-Institut National des Sciences Appliquées (INSA)-Université Jean Monnet - Saint-Étienne (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Institut National des Sciences Appliquées (INSA)-Institut National des Sciences Appliquées (INSA)-Université Jean Monnet - Saint-Étienne (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Université de Rennes (UR)-École des Hautes Études en Santé Publique [EHESP] (EHESP), Université de Bourgogne (UB)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement-Centre National de la Recherche Scientifique (CNRS), Assistance Publique - Hôpitaux de Marseille (APHM)-Aix Marseille Université (AMU)-Centre National de la Recherche Scientifique (CNRS), Assistance Publique - Hôpitaux de Marseille (APHM)-Aix Marseille Université (AMU)-Centre National de la Recherche Scientifique (CNRS)-Assistance Publique - Hôpitaux de Marseille (APHM)-Aix Marseille Université (AMU)-Centre National de la Recherche Scientifique (CNRS)- Hôpital de la Timone [CHU - APHM] (TIMONE), Institut National des Sciences Appliquées (INSA)-Université de Lyon-Institut National des Sciences Appliquées (INSA)-Université de Lyon-Université Claude Bernard Lyon 1 (UCBL), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris 13 (UP13)-Hôpital Jean Verdier [AP-HP], Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), CHU Estaing [Clermont-Ferrand], CHU Clermont-Ferrand-CHU Clermont-Ferrand-CHU Gabriel Montpied [Clermont-Ferrand], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), COMUE Université Côte d'Azur (2015 - 2019) (COMUE UCA)-COMUE Université Côte d'Azur (2015 - 2019) (COMUE UCA)-Université Côte d'Azur (UCA), Service de Neurologie [Rennes], Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Hôpital Pontchaillou-CHU Pontchaillou [Rennes], Institut d’Électronique, de Microélectronique et de Nanotechnologie (IEMN) - UMR 8520 (IEMN), Ecole Centrale de Lille-Institut supérieur de l'électronique et du numérique (ISEN)-Université de Valenciennes et du Hainaut-Cambrésis (UVHC)-Université de Lille-Centre National de la Recherche Scientifique (CNRS)-Université Polytechnique Hauts-de-France (UPHF), Aix Marseille Université (AMU)-École Centrale de Marseille (ECM)-Centre National de la Recherche Scientifique (CNRS), COMUE Université Côte d'Azur (2015 - 2019) (COMUE UCA)-COMUE Université Côte d'Azur (2015 - 2019) (COMUE UCA), Sorbonne Université-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Département de Neurologie [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-IFR70-CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université, Centre d'Investigation Clinique [Rennes] (CIC), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Hôpital Pontchaillou-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de Neurologie, CHU Clermont-Ferrand, Hôpital Jean Minjoz, Centre Hospitalier Régional Universitaire [Besançon] (CHRU Besançon), Sorbonne Université-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Centre National de la Recherche Scientifique (CNRS), and Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)
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medicine.medical_specialty ,Vaccination schedule ,MEDLINE ,Scientific literature ,Multiple sclerosis ,03 medical and health sciences ,0302 clinical medicine ,Recurrence ,Risk Factors ,Health care ,Medicine ,Humans ,030212 general & internal medicine ,Immunization Schedule ,Societies, Medical ,Vaccines ,business.industry ,Risk of infection ,Prevention ,Vaccination ,medicine.disease ,3. Good health ,Neurology ,Immunization ,Family medicine ,Evidence-Based Practice ,Practice Guidelines as Topic ,[SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie ,Neurology (clinical) ,France ,business ,Infection ,Vaccine ,030217 neurology & neurosurgery - Abstract
Objectives To establish recommendations on immunization for patients with multiple sclerosis (MS). Background Vaccines have been suspected in the past to trigger MS and relapses. With the extension of the immunoactive treatment arsenal, other concerns have been raised more recently about an increased risk of infection or a decreased effectiveness of immunization in immunosuppressed patients. Methods The French Group for Recommendations into Multiple Sclerosis (France4MS) performed a systematic search of papers in Medline and other university databases (January 1975–June 2018). The RAND/UCLA appropriateness method was chosen to review the scientific literature and to formalize the degree of agreement among experts on 5 clinical questions related to immunization and MS. Readers from the steering committee conducted a systematic analysis, wrote a critical synthesis and prepared a list of proposals that were evaluated by a rating group of 28 MS experts. The final version of the recommendations was finally reviewed by a reading group of 110 health care professionals and classified as appropriate, inappropriate or uncertain. Results Neurologists should verify the vaccination status as soon as MS is diagnosed and before disease-modifying treatments (DMTs) are introduced. The French vaccination schedule applies to MS patients and seasonal influenza vaccination is recommended. In the case of treatment-induced immunosuppression, MS patients should be informed about the risk of infection and the vaccination standards of the French High Council of Health should be applied. Live attenuated vaccines are contra-indicated in patients recently treated with immunosuppressive drugs, including corticosteroids; other vaccines can be proposed whatever the treatment, but their effectiveness may be partly reduced with some drugs. Conclusion Physicians and patients should be aware of the updated recommendations for immunizations of patients with MS.
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- 2019
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14. Early detection of cardiac and skin amyloid deposits among asymptomatic carriers of hereditary pathogenic transthyretin mutation
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V. Algalarrondo, L. Eliahou, Eve Piekarski, C. Chong-Nguyen, David Adams, François Rouzet, G. Beaudonnet, M. Slama, C. Labeyrie, Diane Beauvais, A. Echaniz-Laguna, and C. Cauquil
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medicine.medical_specialty ,Amyloid ,biology ,medicine.diagnostic_test ,business.industry ,Amyloidosis ,Electromyoneurography ,medicine.disease ,Gastroenterology ,Asymptomatic ,Transthyretin ,Internal medicine ,Skin biopsy ,biology.protein ,Medicine ,Age of onset ,medicine.symptom ,Cardiology and Cardiovascular Medicine ,business ,Asymptomatic carrier - Abstract
Introduction Specific treatments were recently proposed for hereditary transthyretin (ATTRv) amyloidosis. It is essential to screen for disease onset among asymptomatic carriers to trigger treatment as early as possible. We describe their baseline clinical and paraclinical data, as an assessment to detect disease onset. Methods We retrospectively collected data of asymptomatic ATTRv carriers with normal electroneuromyography (ENMG), between March 1st 2015 and January 31st 2019, including symptoms, physical exam, ENMG, cardiac evaluation (multimodal imaging, cardiac denervation), and skin biopsy (amyloid deposition, denervation). Results We included 130 patients, aged 43.6 years (± 13.5), selected in families of probands with an age of onset of 52.7 years (± 15.7), 41% male, carrying 18 different TTR variants including 65% Val30Met. Cardiac fixation on DPD scintigraphy (11/115) and/or amyloid deposits on skin biopsy (15/95), defining amyloid infiltration, were found in 22/130 patients (16.9%)-amounting to 25% when both were performed. Amyloid infiltration was associated with age (P = 0.024), age difference 12 mm (P Conclusion Clinical and paraclinical assessment of asymptomatic carriers of ATTRv mutations shows that skin or cardiac amyloid infiltration precedes ENMG abnormalities in up to 25% of patients. This may trigger specific therapies in borderline cases. Prospective follow up of this cohort might help further define criteria for early onset of specific treatments.
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- 2021
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15. Upper limb onset of hereditary transthyretin amyloidosis is common in non-endemic areas
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M, Théaudin, P, Lozeron, V, Algalarrondo, C, Lacroix, C, Cauquil, C, Labeyrie, M S, Slama, C, Adam, A, Guiochon-Mantel, D, Adams, Pierre, Clavelou, Centre Hospitalier Universitaire Vaudois [Lausanne] (CHUV), Hôpital Lariboisière-Fernand-Widal [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), AP-HP Hôpital Bicêtre (Le Kremlin-Bicêtre), and Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)
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Male ,medicine.medical_specialty ,peripheral neuropathy ,Axonal loss ,Upper Extremity ,03 medical and health sciences ,0302 clinical medicine ,autonomic diseases ,medicine ,Humans ,030212 general & internal medicine ,Radial nerve ,Aged ,Retrospective Studies ,Amyloid Neuropathies, Familial ,biology ,business.industry ,Amyloidosis ,Retrospective cohort study ,Middle Aged ,medicine.disease ,3. Good health ,Surgery ,hATTR amyloidosis ,body regions ,Amyloid Neuropathy ,Transthyretin ,Peripheral neuropathy ,medicine.anatomical_structure ,Neurology ,biology.protein ,Upper limb ,Female ,Neurology (clinical) ,France ,business ,030217 neurology & neurosurgery ,[SDV.MHEP]Life Sciences [q-bio]/Human health and pathology - Abstract
International audience; BACKGROUND AND PURPOSE:The aim is to describe an uncommon phenotype of hereditary ATTR neuropathy with upper limb onset.METHODS:The French TTR Familial Amyloid Polyneuropathy database was used for a retrospective evaluation of 32 consecutive patients with upper limb onset of the neuropathy (study group) and they were compared to 31 Portuguese early-onset patients and 99 late-onset patients without upper limb onset.RESULTS:Initial upper limb symptoms were mostly sensory. Lower limb symptoms began 2.3 ± 3 years after upper limb symptoms. Twenty-four (75%) patients were initially misdiagnosed, with 15 different diagnoses. More patients in the study group had a Neuropathy Impairment Score upper limb/lower limb ratio > 1 compared to the late-onset patient group. The study group had significantly more pronounced axonal loss in the median and ulnar motor nerves and the ulnar sensory and sural nerves. On radial nerve biopsies (n = 11), epineurial vessels were abnormal in six cases, including amyloid deposits in vessel walls (3/11), with vessel occlusion in two cases.CONCLUSION:Upper limb onset of hereditary ATTR neuropathy is not rare in non-endemic areas. It is important to propose early TTR sequencing of patients with idiopathic upper limb neuropathies, as specific management and treatment are required.
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- 2018
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16. SAT0429 How phenotype of the small fibre neuropathy (SFN) in primary sjÖgren syndrome (PSS) differs from others causes of small fibre neuropathy?
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D. Adams, C. Labeyrie, Julien Henry, Xavier Mariette, Elise Descamps, D. Aiello, and Raphaèle Seror
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medicine.medical_specialty ,biology ,medicine.diagnostic_test ,business.industry ,Amyloidosis ,Hypergammaglobulinemia ,Retrospective cohort study ,medicine.disease ,Gastroenterology ,stomatognathic diseases ,Transthyretin ,Peripheral neuropathy ,Internal medicine ,medicine ,biology.protein ,Nerve conduction study ,Etiology ,Rheumatoid factor ,business - Abstract
Background Small fibre neuropathy (SFN) is a peripheral neuropathy characterised by neuropathic pain associated with normal routine nerve conduction study but rarefaction of intraepidermal nerve fibres (IEFN). Primary Sjogren Syndrome (pSS) is one of the many etiology of SFN. Objectives To compare phenotype of SFN in pSS, transthyretin (TTR) familial amyloidosis and idiopathic SFN. To describe evolution of SFN in pSS. Methods All patients referred since October 2012 with a biopsy-proven SFN associated with either pSS (ACR/EULAR 2016 criteria), TTR-amyloidosis or idiopathic were included in this monocentric retrospective study. Diagnosis of SFN was confirmed by normal nerve conduction study and abnormal lower limb skin biopsies. All patients undergo standardised diagnosis procedures during an outpatient day-clinic, pSS patients were further followed and undergo a second evaluation. Characteristics of SFN were compared between 3 groups: pSS, TTR-amyloidosis and idiopathic, and outcome of pSS associated SFN was analysed. Results We included 15 patients with pSS (13 (86.7%) women, median age: 56 years [IQR:46.5–63.5], 7 (46.7%) anti-SSA positive, 12 (80%) focus score ≥1), 17 with TTR-amyloidosis (7 (41.2%) women, median age: 47 years35–56) and 11 with idiopathic SFN (7 (63.6%) women, median age: 47 years [36–56.5]). Patients with pSS had a median ESSDAI of 5.5–8 One had monoclonal gammopathy, 5/13 (38.5%) rheumatoid factor, 2/13 (15.4%) hypergammaglobulinemia and none had cryoglobulin. Time from first neurologic symptoms to diagnosis of SFN was significantly higher for pSS (29 months [8.5–65]) and idiopathic group (35 months [11.5–65]) than for TTR group (6 months [0–15]). Clinical presentation was length dependant in only 2 (13.3%) patients with pSS compared to 10 (58.8%) in TTR amyloidosis (p=0.01) and 2 (18.2%) in idiopathic group (p=1). A “patchy” presentation (defined by asymmetrical and/or proximal symptoms involving limb, trunk and/or face), was significantly more frequent in pSS than in TTR amyloidosis (7 (43.7%) vs. 1 (5.9%); p=0.01). This more frequent non-length dependant course was confirmed on skin biopsies with an IEFN at proximal site Conclusions pSS patients with SFN had a low frequency of serum B cell activation biomarkers. Compared to other causes of SFN, in pSS SNF was characterised by a more frequent non-length dependant and patchy presentation and a higher Lauria score. After a median follow-up of 31 months, SFN in pSS were stable in the time and did not evolve through large fibre neuropathy. Disclosure of Interest None declared
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- 2018
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17. Improving Operation Safety of Multi Zone Single Trip Gravel Pack : Holistic Approach to Minimize Well Control Risk in Mahakam
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H. Hustache, E. Albertson, P. Ayusta, C. Labeyrie, Y. Ji, B. Muryanto, T. Roane, F. Lavoix, and R. Wijaya
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Transport engineering ,Engineering ,business.industry ,Operation safety ,Well control ,business ,Construction engineering - Abstract
Multi Zone Single Trip Gravel Pack (MZ-STGP) system has been the main solution for developing shallow reservoirs in the Mahakam Delta, Indonesia. Despite providing cost effective solutions, the system poses safety challenges related to well control. These challenges (i.e long non-shearable period (NSP), heavy completion fluids losses, severe cross flow and trapped gas) must be overcome in design and operational stages. Robust operating procedures and new equipment have been developed to assure safe and efficient operation.Three main steps of completion (perforation, concentric completion make up and service tool manipulation) were identified as critical and may generate a major well control situation. The completion design phase shall address the issue by carefully targeting appropriate reservoir characteristics, selecting perforation length and total gross net pay. Specific procedures for perforating and making up and manipulating service tools were generated and continuously improved. The continuous improvement process was able to avoid classic challenges such as heavy completion fluid losses after perforating long heterogeneous reservoirs or heavy losses following reservoir stimulation.Specific tools and equipment such as screens with closing sleeves were designed and deployed to assure the whole process was undertaken safely. One of the important innovations was first worldwide use of a dropping table system to handle multiple concentric pipes. This was developed for two different systems through careful engineering design. It allows securing the well in less than 30 seconds.To date, more than 200 wells have been safely completed without any major well control issue. Most importantly, the robust safety approach did not hinder operational performance as very low NonProductive Time (NPT) has been maintained since 2008.
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- 2015
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18. Hydrogen Hypering at Tesca
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T. Lavergé, J. L. Heudier, and C. Labeyrie
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Photographic plate ,Materials science ,Hydrogen ,chemistry ,Mechanical engineering ,chemistry.chemical_element ,Repeatability - Abstract
Hydrogen hypering of photographic plates is certainly the best way to obtain valuable sensitonietric properties with great repeatability. Schoening and Sim et al. have reported very good results [1,2]. The technique has been improved in many places and we know of efficient installations currently being used.
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- 1988
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19. General Properties of Kodak Plates Used in Astronomy
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J. L. Heudier, G. Travot, T. Lavergé, G. Sirand-Rey, C. Labeyrie, and P. Pariyski
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Optics ,business.industry ,Computer science ,Spectral response ,Granularity ,business - Abstract
The characteristics of Kodak plates used in telescopes are taken mainly from the old publication Kodak P-315 [1]. It is one of the few ways to get scientific information about the spectral response, the granularity, the characteristic curve, and the reciprocity failure of the emulsions we put in our telescopes.
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- 1988
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20. Nonamyloidogenic TTR gene variants c.76G>A and c.337-18G>C are not associated with idiopathic small-fiber neuropathy.
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Konecki C, Francou B, Chappell K, Augey L, Beaudonnet G, Cauquil C, Dimitri-Boulos D, Not A, Adam C, Poinsignon V, Verstuyft C, Adams D, Echaniz-Laguna A, and Labeyrie C
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- Humans, Male, Female, Middle Aged, Retrospective Studies, Aged, Adult, Gene Frequency, Prealbumin genetics, Small Fiber Neuropathy genetics
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Background and Purpose: Small-fiber neuropathy (SFN) affects only unmyelinated and thin myelinated fibers. It may be caused by amyloidogenic mutations of the transthyretin (TTR) gene, but not all TTR gene variants are pathogenic. The nonamyloidogenic c.76G>A (rs1800458) and c.337-18G>C (rs36204272) variants of TTR were recently reported to be associated with SFN. We investigated this putative association by analyzing TTR gene sequencing data retrospectively for two cohorts of patients, one with SFN and a control group., Methods: In this retrospective single-center study, we analyzed the frequency of the c.76G>A and c.337-18G>C TTR gene variants in a cohort of patients meeting a strict definition of SFN, with or without dysautonomia, a control cohort of patients investigated for nonneurological conditions, and the gnomAD international database., Results: We included 55 SFN patients in this study, 17 of whom had dysautonomia. The allelic frequencies of the two variants in our cohort of 55 SFN patients were 7.27% for c.76G>A TTR and 5.25% for c.337-18G>C. The frequencies of both variants were statistically similar in the 337 control patients and the gnomAD database., Conclusions: The c.76G>A and c.337-18G>C TTR gene variants are not associated with SFN., (© 2024 The Author(s). European Journal of Neurology published by John Wiley & Sons Ltd on behalf of European Academy of Neurology.)
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- 2024
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21. Anti-CD20 Therapies in Drug-Naive Patients With Primary Progressive Multiple Sclerosis: A Multicenter Real-Life Study.
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Hay M, Rollot F, Casey R, Kerbrat A, Edan G, Mathey G, Labauge P, De Sèze J, Vukusic S, Laplaud DA, Papeix C, Moreau T, Thouvenot E, Defer G, Lebrun-Frénay C, Ciron J, Berger E, Stankoff B, Clavelou P, Maillart E, Heinzlef O, Zéphir H, Ruet A, Casez O, Moulin S, Al-Khedr A, Bourre B, Pelletier J, Magy L, Neau JP, Camdessanché JP, Doghri I, Wahab A, Tchikviladzé M, Labeyrie C, Hankiewicz K, Le Page E, and Michel L
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- Humans, Female, Male, Middle Aged, Retrospective Studies, Disease Progression, Antibodies, Monoclonal, Humanized therapeutic use, Registries, Magnetic Resonance Imaging, France epidemiology, Treatment Outcome, Multiple Sclerosis, Chronic Progressive drug therapy, Multiple Sclerosis, Chronic Progressive diagnostic imaging, Rituximab therapeutic use, Immunologic Factors therapeutic use, Antigens, CD20 immunology
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Background and Objectives: Although rituximab failed to demonstrate a significant effect on disability progression in primary progressive multiple sclerosis (PPMS), ocrelizumab succeeded. Our main objective was to analyze confirmed disability progression (CDP) in a cohort of patients with PPMS treated with anti-CD20 therapies compared with a weighted untreated control cohort., Methods: This was a retrospective study using data from the French MS registry (Observatoire Français de la Sclérose En Plaques). We included patients with PPMS treated or never treated with anti-CD20 therapies from 2016 to 2021, with an Expanded Disability Status Scale score of ≤6.5 at baseline. The primary outcome was time to first CDP. The secondary outcomes were time to first relapse, MRI activity at 2 years, identification of risk factors associated with CDP, and serious infection incidence rates (IIRs). Each outcome was studied using an inverse probability of treatment weighting method. The outcomes were modeled using a weighted proportional Cox model for the time-to-event outcomes and by a logistic regression regarding the MRI activity., Results: A total of 1,184 patients (426 treated and 758 untreated) fulfilled the inclusion criteria. Median age (Q1-Q3) was 56 years (49.3-63.8), and 52.7% were female. Among treated patients, 295 received rituximab, whereas 131 received ocrelizumab. At baseline, anti-CD20-treated patients were younger (median 51.9 vs 58.6 years, Cohen d = 0.683) and had more active disease (54.5 vs 27.8%, Cohen d = 0.562). 91.6% were drug-naive at inclusion. In time to first CDP analysis, no statistical significance was observed (hazard ratio [HR], 1.13; 95% CI 0.93-1.36, p = 0.2113). In time to first relapse analysis, a nonsignificant trend toward fewer patients relapsing in the treated group was observed (HR 0.83; 95% CI 0.48-1.28, p = 0.0809). For MRI activity, no significant difference was found between the 2 groups. Risk factors associated with CDP in the treated group were male sex and MS duration. IIR was 6.67 (95% CI 3.12-14.25) per 100 person-years in the treated group vs 2.67 (95% CI 0.80-8.86) in the untreated group., Discussion: Time to first CDP was not different between anti-CD20 treated and untreated patients with PPMS. Although our study is retrospective and mainly included patients treated by rituximab, our results indicate that there should be a constant evaluation of all available data to ascertain the best risk/benefit ratio for patients with PPMS., Classification of Evidence: This study provides Class III evidence that anti-CD20 therapy of previously untreated patients with PPMS was not superior to no therapy in delaying time to first CDP.
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- 2024
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22. Effectiveness of patisiran after switching from tafamidis for the treatment of hereditary transthyretin-mediated amyloidosis with polyneuropathy.
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Labeyrie C, Merkel M, Sethi S, Popadic L, Yang H, Sweetser MT, Lin H, and Adams D
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- Humans, Male, Female, Aged, Middle Aged, Retrospective Studies, Drug Substitution, Treatment Outcome, RNA, Small Interfering, Amyloid Neuropathies, Familial drug therapy, Amyloid Neuropathies, Familial complications, Benzoxazoles therapeutic use, Polyneuropathies drug therapy
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Background and Purpose: Hereditary transthyretin-mediated amyloidosis with polyneuropathy (ATTRv-PN [v for variant]) is a rare, progressive disease associated with multisystemic impairments. This study assessed the real-world outcomes of patients with ATTRv-PN who switched from tafamidis to patisiran, as well as the reasons for the treatment switch., Methods: This was a retrospective chart review study at a large expert referral center. Data were extracted from medical charts of patients with ATTRv-PN who switched from tafamidis to patisiran on or before 30 August 2019. Data elements included demographic and clinical characteristics, rationale for switch, and disease measures evaluated from tafamidis initiation through the 12-month patisiran treatment period., Results: Among the 24 patients with ATTRv-PN included in the study, 50.0% had a V30M variant, and the mean (SD) age was 67.3 (8.0) years. During tafamidis treatment (mean [SD] = 30.1 [17.5] months) before switching to patisiran, patients worsened across multiple polyneuropathy measures, including walking ability, Neuropathy Impairment Score, and autonomic function. Neuropathic disease progression on tafamidis was the principal reason for switching to patisiran. After 12 months on patisiran (mean [SD] = 11.7 [1.4] months), patients experienced attenuated disease progression or improvement in the aforementioned measures of polyneuropathy., Conclusions: Switching from tafamidis to patisiran attenuated the rate of functional decline, and most patients experienced stabilization or improvement of at least one polyneuropathy measure within 12 months of patisiran treatment. Timely switch from tafamidis to patisiran can be beneficial to avoid rapid disease progression in patients with ATTRv-PN., (© 2024 Analysis Group, Alnylam Pharmaceuticals and The Authors. European Journal of Neurology published by John Wiley & Sons Ltd on behalf of European Academy of Neurology.)
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- 2024
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23. Transthyretin amyloid polyneuropathy in France: A cross-sectional study with 413 patients and real-world tafamidis meglumine use (2009-2019).
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Adams D, Cintas P, Solé G, Tard C, Labeyrie C, Echaniz-Laguna A, Cauquil C, Pereon Y, Magy L, Morales RJ, Antoine JC, Lagrange E, Petiot P, Mallaret M, Francou B, Guiochon-Mantel A, Coste A, Demarcq O, Geffroy C, Famelart V, Rudant J, Bartoli M, Donal E, Lairez O, Eicher JC, Kharoubi M, Oghina S, Trochu JN, Inamo J, Habib G, Roubille F, Hagège A, Morio F, Cariou E, Adda J, Slama MS, Charron P, Algalarrondo V, Damy T, and Attarian S
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- Humans, Male, France epidemiology, Female, Middle Aged, Aged, Cross-Sectional Studies, Adult, Aged, 80 and over, Prealbumin genetics, Amyloid Neuropathies, Familial diagnosis, Amyloid Neuropathies, Familial drug therapy, Amyloid Neuropathies, Familial genetics, Amyloid Neuropathies, Familial epidemiology, Benzoxazoles therapeutic use, Benzoxazoles adverse effects
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Objective: We aimed to describe characteristics of patients with ATTR variant polyneuropathy (ATTRv-PN) and ATTRv-mixed and assess the real-world use and safety profile of tafamidis meglumine 20mg., Methods: Thirty-eight French hospitals were invited. Patient files were reviewed to identify clinical manifestations, diagnostic methods, and treatment compliance., Results: Four hundred and thirteen patients (296 ATTRv-PN, 117 ATTRv-mixed) were analyzed. Patients were predominantly male (68.0%) with a mean age of 57.2±17.2 years. Interval between first symptom(s) and diagnosis was 3.4±4.3 years. First symptoms included sensory complaints (85.9%), dysautonomia (38.5%), motor deficits (26.4%), carpal tunnel syndrome (31.5%), shortness of breath (13.3%), and unexplained weight loss (16.0%). Mini-invasive accessory salivary gland or punch skin and nerve biopsies were most common, with a performance of 78.8-100%. TTR genetic sequencing, performed in all patients, revealed 31 TTR variants. Tafamidis meglumine was initiated in 156/214 (72.9%) ATTRv-PN patients at an early disease stage. Median treatment duration was 6.00 years in ATTRv-PN and 3.42 years in ATTRv-mixed patients. Tafamidis was well tolerated, with 20 adverse events likely related to study drug among the 336 patients., Conclusion: In France, ATTRv patients are usually identified early thanks to the national network and the help of diagnosis combining genetic testing and mini-invasive biopsies., (Copyright © 2024 Elsevier Masson SAS. All rights reserved.)
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- 2024
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24. Acute Clinical Events Identified as Relapses With Stable Magnetic Resonance Imaging in Multiple Sclerosis.
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Gavoille A, Rollot F, Casey R, Kerbrat A, Le Page E, Bigaut K, Mathey G, Michel L, Ciron J, Ruet A, Maillart E, Labauge P, Zephir H, Papeix C, Defer G, Lebrun-Frenay C, Moreau T, Berger E, Stankoff B, Clavelou P, Thouvenot E, Heinzlef O, Pelletier J, Al-Khedr A, Casez O, Bourre B, Cabre P, Wahab A, Magy L, Camdessanché JP, Doghri I, Moulin S, Ben-Nasr H, Labeyrie C, Hankiewicz K, Neau JP, Pottier C, Nifle C, Manchon E, Lapergue B, Wiertlewski S, De Sèze J, Vukusic S, and Laplaud DA
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- Humans, Female, Male, Adult, Middle Aged, Cohort Studies, Spinal Cord diagnostic imaging, Spinal Cord pathology, Brain diagnostic imaging, Disease Progression, Gadolinium, Registries, Magnetic Resonance Imaging methods, Recurrence, Multiple Sclerosis, Relapsing-Remitting diagnostic imaging, Multiple Sclerosis, Relapsing-Remitting drug therapy
- Abstract
Importance: Understanding the association between clinically defined relapses and radiological activity in multiple sclerosis (MS) is essential for patient treatment and therapeutic development., Objective: To investigate clinical events identified as relapses but not associated with new T2 lesions or gadolinium-enhanced T1 lesions on brain and spinal cord magnetic resonance imaging (MRI)., Design, Setting, and Participants: This multicenter observational cohort study was conducted between January 2015 and June 2023. Data were extracted on June 8, 2023, from the French MS registry. All clinical events reported as relapses in patients with relapsing-remitting MS were included if brain and spinal cord MRI was performed within 12 and 24 months before the event, respectively, and 50 days thereafter with gadolinium injection., Exposures: Events were classified as relapses with active MRI (RAM) if a new T2 lesion or gadolinium-enhanced T1 lesion appeared on brain or spinal cord MRI or as acute clinical events with stable MRI (ACES) otherwise., Main Outcomes and Measures: Factors associated with ACES were investigated; patients with ACES and RAM were compared regarding Expanded Disability Status Scale (EDSS) course, relapse rate, confirmed disability accrual (CDA), relapse-associated worsening (RAW), progression independent of relapse activity (PIRA), and transition to secondary progressive (SP) MS, and ACES and RAM rates under each disease-modifying therapy (DMT) were estimated., Results: Among 31 885 clinical events, 637 in 608 patients (493 [77.4%] female; mean [SD] age, 35.8 [10.7] years) were included. ACES accounted for 166 (26.1%) events and were more likely in patients receiving highly effective DMTs, those with longer disease duration (odds ratio [OR], 1.04; 95% CI, 1.01-1.07), or those presenting with fatigue (OR, 2.14; 95% CI, 1.15-3.96). ACES were associated with significant EDSS score increases, lower than those found for RAM. Before the index event, patients with ACES experienced significantly higher rates of relapse (relative rate [RR], 1.21; 95% CI, 1.01-1.46), CDA (hazard ratio [HR], 1.54; 95% CI, 1.13-2.11), and RAW (HR, 1.72; 95% CI, 1.20-2.45). Patients with ACES were at significantly greater risk of SP transition (HR, 2.58; 95% CI, 1.02-6.51). Although RAM rate decreased with DMTs according to their expected efficacy, ACES rate was stable across DMTs., Conclusions and Relevance: The findings in this study introduce the concept of ACES in MS, which accounted for one-fourth of clinical events identified as relapses.
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- 2024
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25. Clinical, paraclinical and outcome features of 166 patients with acute anti-GQ1b antibody syndrome.
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Coly M, Adams D, Attarian S, Bouhour F, Camdessanché JP, Carey G, Cauquil C, Chanson JB, Chrétien P, Créange A, Delmont E, Fargeot G, Frachet S, Gendre T, Kuntzer T, Labeyrie C, Maisonobe T, Michaud M, Moulin M, Nicolas G, Noury JB, Péréon Y, Puma A, Sole G, Taithe F, Tard C, Théaudin M, Timsit S, Venditti L, and Echaniz-Laguna A
- Subjects
- Humans, Female, Male, Middle Aged, Adult, Aged, Retrospective Studies, Young Adult, Adolescent, Aged, 80 and over, Child, Child, Preschool, Guillain-Barre Syndrome blood, Guillain-Barre Syndrome physiopathology, Guillain-Barre Syndrome diagnosis, Guillain-Barre Syndrome immunology, Gangliosides immunology, Autoantibodies blood, Autoantibodies cerebrospinal fluid, Miller Fisher Syndrome physiopathology, Miller Fisher Syndrome blood, Miller Fisher Syndrome diagnosis
- Abstract
Background & Purpose: In this retrospective study, we aimed at defining the clinical, paraclinical and outcome features of acute neurological syndromes associated with anti-GQ1b antibodies., Results: We identified 166 patients with neurological symptoms appearing in less than 1 month and anti-GQ1b antibodies in serum between 2012 and 2022. Half were female (51%), mean age was 50 years (4-90), and the most frequent clinical features were areflexia (80% of patients), distal upper and lower limbs sensory symptoms (78%), ophthalmoplegia (68%), sensory ataxia (67%), limb muscle weakness (45%) and bulbar weakness (45%). Fifty-three patients (32%) presented with complete (21%) and incomplete (11%) Miller Fisher syndrome (MFS), thirty-six (22%) with Guillain-Barre syndrome (GBS), one (0.6%) with Bickerstaff encephalitis (BE), and seventy-three (44%) with mixed MFS, GBS & BE clinical features. Nerve conduction studies were normal in 46% of cases, showed demyelination in 28%, and axonal loss in 23%. Anti-GT1a antibodies were found in 56% of cases, increased cerebrospinal fluid protein content in 24%, and Campylobacter jejuni infection in 7%. Most patients (83%) were treated with intravenous immunoglobulins, and neurological recovery was complete in 69% of cases at 1 year follow-up. One patient died, and 15% of patients relapsed. Age > 70 years, initial Intensive Care Unit (ICU) admission, and absent anti-GQ1b IgG antibodies were predictors of incomplete recovery at 12 months. No predictors of relapse were identified., Conclusion: This study from Western Europe shows acute anti-GQ1b antibody syndrome presents with a large clinical phenotype, a good outcome in 2/3 of cases, and frequent relapses., (© 2024. Springer-Verlag GmbH Germany, part of Springer Nature.)
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- 2024
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26. Frequent detection of IFN-gamma -producing memory effector and effector T cells in patients with progressive multifocal leukoencephalopathy.
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de Goër de Herve MG, Dekeyser M, Hendel-Chavez H, Maillart E, Labeyrie C, Adams D, Moreau T, Lubetzki C, Papeix C, Stankoff B, Gasnault J, and Taoufik Y
- Subjects
- Humans, Male, Female, Middle Aged, Adult, Natalizumab therapeutic use, Aged, Multiple Sclerosis immunology, Multiple Sclerosis drug therapy, Leukoencephalopathy, Progressive Multifocal immunology, Leukoencephalopathy, Progressive Multifocal diagnosis, Leukoencephalopathy, Progressive Multifocal etiology, Interferon-gamma, JC Virus immunology, Memory T Cells immunology, Memory T Cells metabolism
- Abstract
Introduction: Progressive Multifocal Leukoencephalopathy (PML) is a rare and deadly demyelinating disease caused by JC virus (JCV) replication in the central nervous system. PML occurs exclusively in patients with severe underlying immune deficiencies, including AIDS and hematological malignancies. PML has also emerged as a significant threat to patients on potent new immunosuppressive biologics, including natalizumab in multiple sclerosis., Methods: Here, we developed an IFN-γ release assay (IGRA) that mainly detects JCV-specific effector memory T cells and effectors T cells in the blood., Results: This assay was frequently positive in patients with active PML (with a positive JCV PCR in CSF) of various underlying immunosuppression causes (84% sensitivity). Only 3% of healthy donors had a positive response (97% specificity). The frequency of positivity also increased in multiple sclerosis patients according to the time on natalizumab (up to 36% in patients treated for more than 48 months, who are considered at a higher risk of PML)., Discussion: The results show this assay's frequent or increased positivity in patients with PML or an increased risk of PML, respectively. The assay may help to stratify the risk of PML., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2024 de Goër de Herve, Dekeyser, Hendel-Chavez, Maillart, Labeyrie, Adams, Moreau, Lubetzki, Papeix, Stankoff, Gasnault and Taoufik.)
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- 2024
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27. Detailed clinical, physiological and pathological phenotyping can impact access to disease-modifying treatments in ATTR carriers.
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Beauvais D, Labeyrie C, Cauquil C, Francou B, Eliahou L, Not A, Echaniz-Laguna A, Adam C, Slama MS, Benmalek A, Leonardi L, Rouzet F, Adams D, Algalarrondo V, and Beaudonnet G
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- Humans, Male, Female, Adult, Middle Aged, Retrospective Studies, Heterozygote, Neural Conduction physiology, Mutation, Echocardiography, Amyloid Neuropathies, Familial genetics, Amyloid Neuropathies, Familial pathology, Prealbumin genetics, Phenotype
- Abstract
Background: Hereditary transthyretin amyloidosis is a life-threatening autosomal dominant systemic disease due to pathogenic TTR variants (ATTRv), mostly affecting the peripheral nerves and heart. The disease is characterised by a combination of symptoms, organ involvement and histological amyloid deposition. The available disease-modifying ATTRv treatments (DMTs) are more effective if initiated early. Pathological nerve conduction studies (NCS) results are the cornerstone of large-fibre polyneuropathy diagnosis, but this anomaly occurs late in the disease. We investigated the utility of a multimodal neurological and cardiac evaluation for detecting early disease onset in ATTRv carriers., Methods: We retrospectively analysed a cohort of ATTRv carriers with normal NCS results regardless of symptoms. Multimodal denervation and infiltration evaluations included a clinical questionnaire (Lauria and New York Heart Association (NYHA)) and examination, intra-epidermal nerve fibre density assessment, autonomic assessment based on heart rate variability, Sudoscan, meta-iodo-benzyl-guanidine scintigraphy, cardiac biomarkers, echocardiography, MRI and searches for amyloidosis on skin biopsy and bone scintigraphy., Results: We included 130 ATTRv carriers (40.8% men, age: 43.6±13.5 years), with 18 amyloidogenic TTR gene mutations, the majority of which was the late-onset Val30Met variant (42.3%). Amyloidosis was detected in 16.9% of mutation carriers, including 9 (6.9%) with overt disease (Lauria>2 or NYHA>1) and 13 asymptomatic carriers (10%) with organ involvement (small-fibre neuropathy or cardiomyopathy). Most of these patients received DMT. Abnormal test results of unknown significance were obtained for 105 carriers (80.8%). Investigations were normal in only three carriers (2.3%)., Conclusions: Multimodal neurological and cardiac investigation of TTRv carriers is crucial for the early detection of ATTRv amyloidosis and initiation of DMT., Competing Interests: Competing interests: None declared., (© Author(s) (or their employer(s)) 2024. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ.)
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- 2024
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28. High-Efficacy Therapy Discontinuation vs Continuation in Patients 50 Years and Older With Nonactive MS.
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Jouvenot G, Courbon G, Lefort M, Rollot F, Casey R, Le Page E, Michel L, Edan G, de Seze J, Kremer L, Bigaut K, Vukusic S, Mathey G, Ciron J, Ruet A, Maillart E, Labauge P, Zephir H, Papeix C, Defer G, Lebrun-Frenay C, Moreau T, Laplaud DA, Berger E, Stankoff B, Clavelou P, Thouvenot E, Heinzlef O, Pelletier J, Al-Khedr A, Casez O, Bourre B, Cabre P, Wahab A, Magy L, Camdessanché JP, Doghri I, Moulin S, Ben-Nasr H, Labeyrie C, Hankiewicz K, Neau JP, Pottier C, Nifle C, Collongues N, and Kerbrat A
- Subjects
- Humans, Female, Male, Middle Aged, Cohort Studies, Fingolimod Hydrochloride therapeutic use, Immunologic Factors therapeutic use, Immunologic Factors administration & dosage, Registries, Aged, Withholding Treatment, Immunosuppressive Agents therapeutic use, Multiple Sclerosis drug therapy, Natalizumab therapeutic use, Multiple Sclerosis, Relapsing-Remitting drug therapy
- Abstract
Importance: A recent randomized clinical trial concluded that discontinuing medium-efficacy therapy might be a reasonable option for older patients with nonactive multiple sclerosis (MS), but there is a lack of data on discontinuing high-efficacy therapy (HET). In younger patients, the discontinuation of natalizumab and fingolimod is associated with a risk of rebound of disease activity., Objective: To determine whether discontinuing HET in patients 50 years and older with nonactive MS is associated with an increased risk of relapse compared with continuing HET., Design, Setting, and Participants: This observational cohort study used data from 38 referral centers from the French MS registry (Observatoire Français de la Sclérose en Plaques [OFSEP] database). Among 84704 patients in the database, data were extracted for 1857 patients 50 years and older with relapsing-remitting MS treated by HET and with no relapse or magnetic resonance imaging activity for at least 2 years. After verification of the medical records, 1620 patients were classified as having discontinued HET or having remained taking treatment and were matched 1:1 using a dynamic propensity score (including age, sex, disease phenotype, disability, treatment of interest, and time since last inflammatory activity). Patients were included from February 2008 to November 2021, with a mean (SD) follow-up of 5.1 (2.9) years. Data were extracted in June 2022., Exposures: Natalizumab, fingolimod, rituximab, and ocrelizumab., Main Outcomes and Measures: Time to first relapse., Results: Of 1620 included patients, 1175 (72.5%) were female, and the mean (SD) age was 54.7 (4.8) years. Among the 1452 in the HET continuation group and 168 in the HET discontinuation group, 154 patients in each group were matched using propensity scores (mean [SD] age, 57.7 [5.5] years; mean [SD] delay since the last inflammatory activity, 5.6 [3.8] years; mean [SD] follow-up duration after propensity score matching, 2.5 [2.1] years). Time to first relapse was significantly reduced in the HET discontinuation group compared with the HET continuation group (hazard ratio, 4.1; 95% CI, 2.0-8.5; P < .001) but differed between HETs, with a hazard ratio of 7.2 (95% CI, 2.1-24.5; P = .001) for natalizumab, 4.5 (95% CI, 1.3-15.5; P = .02) for fingolimod, and 1.1 (95% CI, 0.3-4.8; P = .85) for anti-CD20 therapy., Conclusion and Relevance: As in younger patients, in patients 50 years and older with nonactive MS, the risk of relapse increased significantly after stopping HETs that impact immune cell trafficking (natalizumab and fingolimod). There was no significant increase in risk after stopping HETs that deplete B-cells (anti-CD20 therapy). This result may inform decisions about stopping HETs in clinical practice.
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- 2024
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29. Sensorimotor deficit: To worm information out of white blood cell count!
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Camard M, Labeyrie C, Bessis S, Beaudonnet G, and Beauvais D
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- 2024
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30. Alemtuzumab-induced immune-mediated thrombotic thrombocytopenic purpura: A newly described drug-related autoimmune disease.
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Bourdin V, Fossé Q, Lambotte O, Joly B, Coppo P, Anguel N, and Labeyrie C
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- Humans, Adult, Alemtuzumab adverse effects, Antibodies, Monoclonal therapeutic use, Plasma Exchange, ADAMTS13 Protein, Purpura, Thrombotic Thrombocytopenic chemically induced, Purpura, Thrombotic Thrombocytopenic diagnosis, Purpura, Thrombotic Thrombocytopenic therapy, Thrombotic Microangiopathies therapy, Autoimmune Diseases chemically induced, Autoimmune Diseases therapy
- Abstract
Immune-mediated thrombotic thrombocytopenic purpura (iTTP) is a rare and life-threatening disease that may result from drug exposure. We report a case of iTTP occurring in a 39-year-old patient, 45 months following introduction of the anti-CD52 lymphoid cell depleting monoclonal antibody alemtuzumab, to treat a relapsing-remitting multiple sclerosis. Treatment consisted in plasma exchange, corticosteroids and caplacizumab, allowing clinical remission 3 months after the diagnosis, attested by the absence of thrombocytopenia and recovery of ADAMTS-13 activity. As other autoimmune disorders, iTTP may occur following alemtuzumab. This diagnosis should be suspected in patients with features of thrombotic microangiopathy following this treatment., (© 2023 The Authors. British Journal of Haematology published by British Society for Haematology and John Wiley & Sons Ltd.)
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- 2024
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31. Hereditary transthyretin amyloidosis in middle-aged and elderly patients with idiopathic polyneuropathy: a nationwide prospective study.
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Fargeot G, Echaniz-Laguna A, Labeyrie C, Svahn J, Camdessanché JP, Cintas P, Chanson JB, Esselin F, Piedvache C, Verstuyft C, Genestet S, Lagrange E, Magy L, Péréon Y, Sacconi S, Signate A, Nadaj-Pakleza A, Taithe F, Viala K, Tard C, Poinsignon V, Cauquil C, Attarian S, and Adams D
- Subjects
- Male, Adult, Middle Aged, Aged, Humans, Female, Prospective Studies, Treatment Outcome, Prealbumin genetics, Amyloid Neuropathies, Familial pathology, Polyneuropathies diagnosis, Polyneuropathies genetics
- Abstract
Background: Hereditary transthyretin amyloidosis (ATTRv) is an adult-onset autosomal dominant disease resulting from TTR gene pathogenic variants. ATTRv often presents as a progressive polyneuropathy, and effective ATTRv treatments are available., Methods: In this 5 year-long (2017-2021) nationwide prospective study, we systematically analysed the TTR gene in French patients with age >50 years with a progressive idiopathic polyneuropathy., Results: 553 patients (70% males) with a mean age of 70 years were included. A TTR gene pathogenic variant was found in 15 patients (2.7%), including the Val30Met TTR variation in 10 cases. In comparison with patients with no TTR gene pathogenic variants ( n = 538), patients with TTR pathogenic variants more often presented with orthostatic hypotension (53 vs. 21%, p = .007), significant weight loss (33 vs 11%, p = .024) and rapidly deteriorating nerve conduction studies (26 vs. 8%, p = .03). ATTRv diagnosis led to amyloid cardiomyopathy diagnosis in 11 cases, ATTRv specific treatment in all cases and identification of 15 additional ATTRv cases among relatives., Conclusion: In this nationwide prospective study, we found ATTRv in 2.7% of patients with age >50 years with a progressive polyneuropathy. These results are highly important for the early identification of patients in need of disease-modifying treatments.
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- 2024
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32. French protocol for the diagnosis and management of hematopoietic stem cell transplantation in autoimmune diseases.
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Farge D, Pugnet G, Allez M, Castilla-Llorente C, Chatelus E, Cintas P, Faucher-Barbey C, Labauge P, Labeyrie C, Lioure B, Maria A, Michonneau D, Puyade M, Talouarn M, Terriou L, Treton X, Wojtasik G, Zephir H, and Marjanovic Z
- Subjects
- Humans, Transplantation Conditioning methods, Transplantation, Autologous, Hematopoietic Stem Cell Transplantation, Autoimmune Diseases diagnosis, Autoimmune Diseases therapy, Scleroderma, Systemic diagnosis, Scleroderma, Systemic therapy
- Abstract
Hematopoietic stem cell transplantation (HSCT) for severe ADs was developed over the past 25years and is now validated by national and international medical societies for severe early systemic sclerosis (SSc) and relapsing-remitting multiple sclerosis (MS) and available as part of routine care in accredited center. HSCT is also recommended, with varying levels of evidence, as an alternative treatment for several ADs, when refractory to conventional therapy, including specific cases of connective tissue diseases or vasculitis, inflammatory neurological diseases, and more rarely severe refractory Crohn's disease. The aim of this document was to provide guidelines for the current indications, procedures and follow-up of HSCT in ADs. Patient safety considerations are central to guidance on patient selection and conditioning, always validated at the national MATHEC multidisciplinary team meeting (MDTM) based on recent (less than 3months) thorough patient evaluation. HSCT procedural aspects and follow-up are then carried out within appropriately experienced and Joint Accreditation Committee of International Society for Cellular Therapy and SFGM-TC accredited centres in close collaboration with the ADs specialist. These French recommendations were performed according to HAS/FAI2R standard operating procedures and coordinated by the Île-de-France MATHEC Reference Centre for Rare Systemic Autoimmune Diseases (CRMR MATHEC) within the Filière FAI2R and in association with the Filière MaRIH. The task force consisted of 3 patients and 64 clinical experts from various specialties and French centres. These data-derived and consensus-derived recommendations will help clinicians to propose HSCT for their severe ADs patients in an evidence-based way. These recommendations also give directions for future clinical research in this area. These recommendations will be updated according to newly emerging data. Of note, other cell therapies that have not yet been approved for clinical practice or are the subject of ongoing clinical research will not be addressed in this document., (Copyright © 2024 The Authors. Published by Elsevier Masson SAS.. All rights reserved.)
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- 2024
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33. Red Flags for Chronic Inflammatory Demyelinating Polyradiculoneuropathy Associated with Sarcoidosis or Connective Tissue Diseases.
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Vialatte de Pémille C, Noël N, Adam C, Labeyrie C, Not A, Beaudonnet G, Echaniz-Laguna A, Adams D, and Cauquil C
- Abstract
Chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) is a rare autoimmune disorder of the peripheral nervous system. Diagnosis relies on clinical and electrophysiological criteria. Various disorders requiring specific treatment regimens may be associated with CIDP, including sarcoidosis (SAR-CIDP) and connective tissue disease (CTD-CIDP). Therefore, it is important to distinguish between CIDP, SAR-CIDP and CTD-CIDP. In this retrospective monocentric study, we analyzed 16 patients with SAR-CIDP and 11 with CTD-CIDP and compared them with a group of 17 patients with idiopathic CIDP. SAR-CIDP patients had a frequently acute or subacute CIDP onset. CTD-CIDPs were mostly Sjögren's syndrome and lupus, and patients had a chronic onset. An older age at onset (64.5 vs. 54 years, p = 0.04), more atypical presentation (19/25 (76%) vs. 6/17 (35%), p = 0.008), acute/subacute onset of symptoms (15/25 (60%) vs. 1/17 (6%), p = 0.0004) and more frequent weight loss (7/16 (44%) vs. 0/17 (0%), p = 0.017) were identified SAR-CIDP and CTD-CIDP groups. Response to intravenous immunoglobulin therapy was lower in the combined SAR-CIDP and CTD-CIDP group (44% versus 82%, p = 0.005). As sarcoidosis and CTDs might be associated with CIDP and require specific management, the "red flags" mentioned above should be kept in mind by clinicians managing patients with CIDP.
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- 2023
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34. [Peripheral neuropathies during systemic diseases: Part II (vasculitis)].
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Pacoureau L, Urbain F, Venditti L, Beaudonnet G, Cauquil C, Adam C, Goujard C, Lambotte O, Adams D, Labeyrie C, and Noel N
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- Humans, Biopsy, Peripheral Nervous System Diseases complications, Peripheral Nervous System Diseases diagnosis, Vasculitis complications, Vasculitis diagnosis, Vasculitis pathology
- Abstract
Primary systemic vasculitides, mainly of the small and medium-sized vessels, are frequently associated with peripheral neuropathies. When the disease is already known, the appearance of a neuropathy should suggest a specific injury, especially when associated with other systemic manifestations. Conversely, when neuropathy is inaugural, close collaboration between neurologists and internists is necessary to reach a diagnosis. A standardized electro-clinical investigation specifying the topography, the evolution and the mechanism of the nerve damage enables the positive diagnosis of the neuropathy. Several elements orient the etiological diagnosis and allow to eliminate the main differential diagnosis: non systemic vasculitic neuropathy. The existence of associated systemic manifestations (glomerular or vascular nephropathy, interstitial lung disease, intra-alveolar hemorrhage, ENT involvement…), biological markers (ANCA, cryoglobulinemia, rheumatoid factor), and invasive examinations allowing histological analysis (neuromuscular biopsy) are all useful tools for., (Copyright © 2023 Société Nationale Française de Médecine Interne (SNFMI). Published by Elsevier Masson SAS. All rights reserved.)
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- 2023
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35. [Peripheral neuropathies during systemic diseases: Part I (connective tissue diseases and granulomatosis)].
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Pacoureau L, Urbain F, Venditti L, Beaudonnet G, Cauquil C, Adam C, Goujard C, Lambotte O, Adams D, Labeyrie C, and Noel N
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- Humans, Autoantibodies, Antibodies, Antinuclear, Peripheral Nervous System Diseases diagnosis, Peripheral Nervous System Diseases etiology, Connective Tissue Diseases complications
- Abstract
Systemic diseases (connective disease, granulomatosis) may be associated with peripheral neuropathies. The diagnosis can be complex when the neuropathy is the presenting manifestation of the disease, requiring close collaboration between neurologists and internists. Conversely, when the systemic disease is already known, the main question remaining is its imputability in the neuropathy. Regardless of the situation, the positive diagnosis of neuropathy is based on a systematic and rigorous electro-clinical investigation, specifying the topography, the evolution and the mechanism of the nerve damage. Certain imaging examinations, such as nerve and/or plexus MRI, or other more invasive examinations (skin biopsy, neuromuscular biopsy) enable to specify the topography and the mechanism of the injury. The imputability of the neuropathy in the course of a known systemic disease is based mainly on its electro-clinical pattern, on which the alternatives diagnoses depend. In the case of an inaugural neuropathy, a set of arguments orients the diagnosis, including the underlying terrain (young subject), possible associated systemic manifestations (inflammatory arthralgias, polyadenopathy), results of first-line laboratory tests (lymphopenia, hyper-gammaglobulinemia, hypocomplementemia), autoantibodies (antinuclear, anti-native DNA, anti-SSA/B) and sometimes invasive examinations (neuromuscular biopsy)., (Copyright © 2023 Société Nationale Française de Médecine Interne (SNFMI). Published by Elsevier Masson SAS. All rights reserved.)
- Published
- 2023
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36. How should we diagnose CNS involvement of transthyretin amyloidosis?
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Hamimed C, Lahousse H, Defebvre L, Labeyrie C, Bruge C, and Tard C
- Subjects
- Humans, Prealbumin genetics, Amyloid Neuropathies, Familial complications, Amyloid Neuropathies, Familial diagnosis, Central Nervous System Neoplasms
- Published
- 2023
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37. Strategy for genetic analysis in hereditary neuropathy.
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Masingue M, Fernández-Eulate G, Debs R, Tard C, Labeyrie C, Leonard-Louis S, Dhaenens CM, Masson MA, Latour P, and Stojkovic T
- Subjects
- Humans, Charcot-Marie-Tooth Disease diagnosis, Charcot-Marie-Tooth Disease genetics, Hereditary Sensory and Motor Neuropathy diagnosis, Hereditary Sensory and Motor Neuropathy genetics
- Abstract
Inherited neuropathies are a heterogeneous group of slowly progressive disorders affecting either motor, sensory, and/or autonomic nerves. Peripheral neuropathy may be the major component of a disease such as Charcot-Marie-Tooth disease or a feature of a more complex multisystemic disease involving the central nervous system and other organs. The goal of this review is to provide the clinical clues orientating the genetic diagnosis in a patient with inherited peripheral neuropathy. This review focuses on primary inherited neuropathies, amyloidosis, inherited metabolic diseases, while detailing clinical, neurophysiological and potential treatment of these diseases., (Copyright © 2022 Elsevier Masson SAS. All rights reserved.)
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- 2023
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38. Treating hereditary transthyretin amyloidosis: Present & future challenges.
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Echaniz-Laguna A, Cauquil C, Labeyrie C, and Adams D
- Subjects
- Adult, Humans, RNA, Small Interfering genetics, RNA, Small Interfering therapeutic use, Liver, Mutation, Prealbumin genetics, Prealbumin therapeutic use, Amyloid Neuropathies, Familial therapy, Amyloid Neuropathies, Familial drug therapy
- Abstract
Hereditary transthyretin amyloidosis (ATTRv) is a rare, lethal, autosomal dominant adult-onset genetic gain-of function (GOF) disorder provoked by mutations in the TTR gene. Until recently, therapeutic options were limited and consisted mainly in liver transplantation and TTR-stabilizers. In the last few years, ATTRv has been at the center of major therapeutic breakthroughs, including development of effective small interfering RNA (siRNA) and antisense oligonucleotide (ASO) treatments targeting liver TTR mRNA. Both siRNA (patisiran) and ASO (inotersen) treatments are now commercially available and have dramatically improved ATTRv neurological outcome. Ongoing clinical trials currently evaluate another siRNA, vutrisiran and a novel ASO formulation, eplontersen. A CRISPR-Cas9-based TTR gene editing treatment is also currently evaluated, with encouraging preliminary results. These recent therapeutic developments demonstrate the shifting paradigm of ATTRv, a previously untreatable and lethal disorder and provide a proof-of-concept for developing siRNA, ASO and CRISPR-Cas9 treatments for other GOF genetic disorders., (Copyright © 2022 Elsevier Masson SAS. All rights reserved.)
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- 2023
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39. Anti-disialosyl-immunoglobulin M chronic autoimmune neuropathies: a nationwide multicenter retrospective study.
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Peillet C, Adams D, Attarian S, Bouhour F, Cauquil C, Cassereau J, Chanson JB, Cintas P, Creange A, Delmont E, Fargeot G, Genestet S, Gueguen A, Kaminsky AL, Kuntzer T, Labeyrie C, Michaud M, Pereon Y, Puma A, Viala K, Chretien P, Adam C, and Echaniz-Laguna A
- Subjects
- Male, Humans, Female, Immunoglobulin M, Retrospective Studies, Gangliosides, Immunoglobulins, Intravenous, Peripheral Nervous System Diseases
- Abstract
Background and Purpose: In this retrospective study involving 14 university hospitals from France and Switzerland, the aim was to define the clinicopathological features of chronic neuropathies with anti-disialosyl ganglioside immunoglobulin M (IgM) antibodies (CNDA)., Results: Fifty-five patients with a polyneuropathy evolving for more than 2 months and with at least one anti-disialosyl ganglioside IgM antibody, that is, anti-GD1b, -GT1b, -GQ1b, -GT1a, -GD2 and -GD3, were identified. Seventy-eight percent of patients were male, mean age at disease onset was 55 years (30-76) and disease onset was progressive (82%) or acute (18%). Patients presented with limb sensory symptoms (94% of cases), sensory ataxia (85%), oculomotor weakness (36%), limb motor symptoms (31%) and bulbar muscle weakness (18%). Sixty-five percent of patients had a demyelinating polyradiculoneuropathy electrodiagnostic profile and 24% a sensory neuronopathy profile. Anti-GD1b antibodies were found in 78% of cases, whilst other anti-disialosyl antibodies were each observed in less than 51% of patients. Other features included nerve biopsy demyelination (100% of cases), increased cerebrospinal fluid protein content (75%), IgM paraprotein (50%) and malignant hemopathy (8%). Eighty-six percent of CNDA patients were intravenous immunoglobulins-responsive, and rituximab was successfully used as second-line treatment in 50% of cases. Fifteen percent of patients had mild symptoms and were not treated. CNDA course was progressive (55%) or relapsing (45%), and 93% of patients still walked after a mean disease duration of 11 years., Conclusion: Chronic neuropathies with anti-disialosyl ganglioside IgM antibodies have a recognizable phenotype, are mostly intravenous immunoglobulins-responsive and present with a good outcome in a majority of cases., (© 2022 European Academy of Neurology.)
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- 2022
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40. Disease Reactivation After Cessation of Disease-Modifying Therapy in Patients With Relapsing-Remitting Multiple Sclerosis.
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Roos I, Malpas C, Leray E, Casey R, Horakova D, Havrdova EK, Debouverie M, Patti F, De Seze J, Izquierdo G, Eichau S, Edan G, Prat A, Girard M, Ozakbas S, Grammond P, Zephir H, Ciron J, Maillart E, Moreau T, Amato MP, Labauge P, Alroughani R, Buzzard K, Skibina O, Terzi M, Laplaud DA, Berger E, Grand'Maison F, Lebrun-Frenay C, Cartechini E, Boz C, Lechner-Scott J, Clavelou P, Stankoff B, Prevost J, Kappos L, Pelletier J, Shaygannejad V, Yamout BI, Khoury SJ, Gerlach O, Spitaleri DLA, Van Pesch V, Gout O, Turkoglu R, Heinzlef O, Thouvenot E, McCombe PA, Soysal A, Bourre B, Slee M, Castillo-Trivino T, Bakchine S, Ampapa R, Butler EG, Wahab A, Macdonell RA, Aguera-Morales E, Cabre P, Ben NH, Van der Walt A, Laureys G, Van Hijfte L, Ramo-Tello CM, Maubeuge N, Hodgkinson S, Sánchez-Menoyo JL, Barnett MH, Labeyrie C, Vucic S, Sidhom Y, Gouider R, Csepany T, Sotoca J, de Gans K, Al-Asmi A, Fragoso YD, Vukusic S, Butzkueven H, and Kalincik T
- Subjects
- Humans, Female, Natalizumab therapeutic use, Fingolimod Hydrochloride therapeutic use, Retrospective Studies, Recurrence, Immunosuppressive Agents adverse effects, Multiple Sclerosis, Relapsing-Remitting drug therapy, Multiple Sclerosis, Relapsing-Remitting epidemiology, Multiple Sclerosis chemically induced
- Abstract
Background and Objectives: To evaluate the rate of return of disease activity after cessation of multiple sclerosis (MS) disease-modifying therapy., Methods: This was a retrospective cohort study from 2 large observational MS registries: MSBase and OFSEP. Patients with relapsing-remitting MS who had ceased a disease-modifying therapy and were followed up for the subsequent 12 months were included in the analysis. The primary study outcome was annualized relapse rate in the 12 months after disease-modifying therapy discontinuation stratified by patients who did, and did not, commence a subsequent therapy. The secondary endpoint was the predictors of first relapse and disability accumulation after treatment discontinuation., Results: A total of 14,213 patients, with 18,029 eligible treatment discontinuation epochs, were identified for 7 therapies. Annualized rates of relapse (ARRs) started to increase 2 months after natalizumab cessation (month 2-4 ARR 0.47, 95% CI 0.43-0.51). Commencement of a subsequent therapy within 2-4 months reduced the magnitude of disease reactivation (mean ARR difference: 0.15, 0.08-0.22). After discontinuation of fingolimod, rates of relapse increased overall (month 1-2 ARR: 0.80, 0.70-0.89) and stabilized faster in patients who started a new therapy within 1-2 months (mean ARR difference: 0.14, -0.01 to 0.29). The magnitude of disease reactivation for other therapies was low but reduced further by commencement of another treatment 1-10 months after treatment discontinuation. Predictors of relapse were a higher relapse rate in the year before cessation, female sex, younger age, and higher EDSS score. Commencement of a subsequent therapy reduced both the risk of relapse (HR 0.76, 95% CI 0.72-0.81) and disability accumulation (0.73, 0.65-0.80)., Discussion: The rate of disease reactivation after treatment cessation differs among MS treatments, with the peaks of relapse activity ranging from 1 to 10 months in untreated cohorts that discontinued different therapies. These results suggest that untreated intervals should be minimized after stopping antitrafficking therapies (natalizumab and fingolimod)., Classification of Evidence: This study provides Class III that disease reactivation occurs within months of discontinuation of MS disease-modifying therapies. The risk of disease activity is reduced by commencement of a subsequent therapy., (© 2022 American Academy of Neurology.)
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- 2022
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41. Amyloidosis from the patient perspective: the French daily impact of amyloidosis study.
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Damy T, Adams D, Bridoux F, Grateau G, Planté-Bordeneuve V, Ghiron Y, Farrugia A, Pelcot F, Taieb C, Labeyrie C, Jaccard A, and Georgin-Lavialle S
- Subjects
- Aged, Cross-Sectional Studies, Female, Humans, Male, Pain, Prealbumin, Serum Amyloid A Protein, Amyloid Neuropathies, Familial diagnosis, Amyloid Neuropathies, Familial epidemiology, Amyloid Neuropathies, Familial therapy, Amyloidosis diagnosis, Immunoglobulin Light-chain Amyloidosis
- Abstract
Background: Amyloidosis is a complex group of rare conditions. For patients, amyloidosis is severely debilitating: physically and psychologically. Currently, data are lacking to evaluate the medical, economic, and social burden of systemic amyloidosis., Objective: To analyse the patient burden according to the main types of systemic amyloidosis., Methods: The French Daily Impact of Amyloidosis study was an observational, cross-sectional and non-interventional study. Adults diagnosed with light chain (AL), transthyretin (ATTR), amyloid A (AA) and other rare forms of amyloidosis were eligible. Data regarding amyloidosis prevalence, diagnosis, management, and impact on everyday life were collected using a study-specific survey built by the Association Française Contre l'Amylose (AFCA) and the four French National Referral Centres for Amyloidosis., Results: A total of 603 patients, predominantly male (65%) with an average age of 66.8 years, including 170 AL, 224 ATTRv, 109 ATTRwt and 25 AA amyloidosis patients, completed the study-specific survey. The median delay from presentation to confirmed diagnosis was 27.4 months but varied according to amyloidosis type. Patients before diagnosis had breathlessness (49%), tingling sensation (33%), pain (28%), difficulty in walking (28%) and weight loss (22%). Amyloidosis was most frequently suspected (49%) and confirmed (57%) in local hospitals but managed in French amyloidosis referral centres (58%). Patients often reported problems with mobility, usual activities, pain/discomfort and anxiety/depression, but not with self-care., Conclusions: Systemic amyloidosis severely impacts daily life. The delay to confirmed amyloidosis diagnosis needs to be reduced. Early, effective treatment is required to optimise patient benefits.
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- 2022
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42. Skin amyloid deposits and nerve fiber loss as markers of neuropathy onset and progression in hereditary transthyretin amyloidosis.
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Leonardi L, Adam C, Beaudonnet G, Beauvais D, Cauquil C, Not A, Morassi O, Benmalek A, Trassard O, Echaniz-Laguna A, Adams D, and Labeyrie C
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- Biomarkers, Humans, Nerve Fibers pathology, Retrospective Studies, Amyloid Neuropathies, Familial complications, Amyloid Neuropathies, Familial diagnosis, Amyloid Neuropathies, Familial genetics, Plaque, Amyloid
- Abstract
Background and Purpose: This study was undertaken to assess skin biopsy as a marker of disease onset and severity in hereditary transthyretin amyloidosis with polyneuropathy (ATTRv-PN), a treatable disease., Methods: In this single center retrospective study, skin Congo red staining and intraepidermal nerve fiber density (IENFD) were evaluated in symptomatic ATTRv-PN patients and asymptomatic TTR gene mutation carriers between 2012 and 2019. Non-ATTRv subjects with suspected small fiber neuropathy who underwent skin biopsy during the same timespan were used as controls., Results: One hundred eighty-three symptomatic ATTRv-PN patients, 36 asymptomatic carriers, and 537 non-ATTRv patients were included. Skin biopsy demonstrated amyloid depositions in 80% of the 183 symptomatic cases. Skin amyloid deposits were found in 75% of early stage ATTRv-PN patients, and in 14% of asymptomatic carriers. All 183 symptomatic and 34 of 36 asymptomatic patients displayed decreased ankle IENFD with a proximal-distal gradient distribution, and reduced IEFND correlated with disease severity and duration., Conclusions: Our study demonstrates skin amyloid deposits are a marker of ATTRv-PN disease onset, and decreased IENFD a marker of disease progression. These results are of major importance for the early identification of ATTRv-PN patients in need of disease-modifying treatments., (© 2022 European Academy of Neurology.)
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- 2022
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43. Neuropathies périphériques associées aux syndromes lymphoprolifératifs : spectre clinique et démarche diagnostique.
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Pacoureau L, Labeyrie C, Catalan P, Echaniz-Laguna A, Henriquez S, Laparra A, Cauquil C, Chrétien P, Hacein-Bey-Abina S, Goujard C, Adam C, Lambotte O, Adams D, and Noël N
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- Autoantibodies, Humans, Myelin-Associated Glycoprotein, Syndrome, Paraproteinemias, Peripheral Nervous System Diseases
- Abstract
Lymphoproliferative syndromes (multiple myeloma, Waldenström's disease, chronic lymphocytic leukemia, lymphomas) may be associated with peripheral neuropathies. The mechanism can be dysimmune, associated or not with monoclonal gammopathies; paraneoplastic; infiltrative; or more commonly, iatrogenic or due to vitamin deficiency. The diagnosis can be complex, especially when the neuropathy is the presenting manifestation, requiring a close cooperation between internists and neurologists. The positive diagnosis of the neuropathy is based on a systematic electro-clinical investigation, which specifies the topography and the mechanism of the nerve damage, sometimes reinforced by imaging examinations, in particular, nerve and/or plexus MRI. The imputability of the neuropathy to a lymphoproliferative syndrome is based on a set of arguments including the clinical context (B signs, tumour syndrome), first-line laboratory tests (hemogram, protein electrophoresis, viral serologies, complement), auto-antibodies discussed according to the neuropathy (anti-MAG, anti-gangliosides) and sometimes more invasive examinations (bone marrow or neuro-muscular biopsies)., (Copyright © 2021 Société Nationale Française de Médecine Interne (SNFMI). Published by Elsevier Masson SAS. All rights reserved.)
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- 2021
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44. Natalizumab Versus Fingolimod in Patients with Relapsing-Remitting Multiple Sclerosis: A Subgroup Analysis From Three International Cohorts.
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Sharmin S, Lefort M, Andersen JB, Leray E, Horakova D, Havrdova EK, Alroughani R, Izquierdo G, Ozakbas S, Patti F, Onofrj M, Lugaresi A, Terzi M, Grammond P, Grand'Maison F, Yamout B, Prat A, Girard M, Duquette P, Boz C, Trojano M, McCombe P, Slee M, Lechner-Scott J, Turkoglu R, Sola P, Ferraro D, Granella F, Prevost J, Maimone D, Skibina O, Buzzard K, Van der Walt A, Van Wijmeersch B, Csepany T, Spitaleri D, Vucic S, Casey R, Debouverie M, Edan G, Ciron J, Ruet A, De Sèze J, Maillart E, Zephir H, Labauge P, Defer G, Lebrun-Frénay C, Moreau T, Berger E, Clavelou P, Pelletier J, Stankoff B, Gout O, Thouvenot E, Heinzlef O, Al-Khedr A, Bourre B, Casez O, Cabre P, Montcuquet A, Wahab A, Camdessanché JP, Maurousset A, Patry I, Hankiewicz K, Pottier C, Maubeuge N, Labeyrie C, Nifle C, Laplaud D, Koch-Henriksen N, Sellebjerg FT, Soerensen PS, Pfleger CC, Rasmussen PV, Jensen MB, Frederiksen JL, Bramow S, Mathiesen HK, Schreiber KI, Magyari M, Vukusic S, Butzkueven H, and Kalincik T
- Subjects
- Adult, Cohort Studies, Female, Follow-Up Studies, Humans, Immunosuppressive Agents therapeutic use, Longitudinal Studies, Male, Middle Aged, Multiple Sclerosis, Relapsing-Remitting diagnosis, Multiple Sclerosis, Relapsing-Remitting epidemiology, Secondary Prevention, Fingolimod Hydrochloride therapeutic use, Immunologic Factors therapeutic use, Internationality, Multiple Sclerosis, Relapsing-Remitting drug therapy, Natalizumab therapeutic use, Registries
- Abstract
Introduction: Natalizumab has proved to be more effective than fingolimod in reducing disease activity in relapsing-remitting multiple sclerosis (RRMS). Whether this association is universal for all patient groups remains to be determined., Objective: The aim of this study was to compare the relative effectiveness of natalizumab and fingolimod in RRMS subgroups defined by the baseline demographic and clinical characteristics of interest., Methods: Patients with RRMS who were given natalizumab or fingolimod were identified in a merged cohort from three international registries. Efficacy outcomes were compared across subgroups based on patients' sex, age, disease duration, Expanded Disability Status Scale (EDSS) score, and disease and magnetic resonance imaging (MRI) activity 12 months prior to treatment initiation. Study endpoints were number of relapses (analyzed with weighted negative binomial generalized linear model) and 6-month confirmed disability worsening and improvement events (weighted Cox proportional hazards model), recorded during study therapy. Each patient was weighted using inverse probability of treatment weighting based on propensity score., Results: A total of 5148 patients (natalizumab 1989; fingolimod 3159) were included, with a mean ± standard deviation age at baseline of 38 ± 10 years, and the majority (72%) were women. The median on-treatment follow-up was 25 (quartiles 15-41) months. Natalizumab was associated with fewer relapses than fingolimod (incidence rate ratio [IRR]; 95% confidence interval [CI]) in women (0.76; 0.65-0.88); in those aged ≤ 38 years (0.64; 0.54-0.76); in those with disease duration ≤ 7 years (0.63; 0.53-0.76); in those with EDSS score < 4 (0.75; 0.64-0.88), < 6 (0.80; 0.70-0.91), and ≥ 6 (0.52; 0.31-0.86); and in patients with pre-baseline relapses (0.74; 0.64-0.86). A higher probability of confirmed disability improvement on natalizumab versus fingolimod (hazard ratio [HR]; 95% CI) was observed among women (1.36; 1.10-1.66); those aged > 38 years (1.34; 1.04-1.73); those with disease duration > 7 years (1.33; 1.01-1.74); those with EDSS score < 6 (1.21; 1.01-1.46) and ≥ 6 (1.93; 1.11-3.34); and patients with no new MRI lesion (1.73; 1.19-2.51)., Conclusions: Overall, in women, younger patients, those with shorter disease durations, and patients with pre-treatment relapses, natalizumab was associated with a lower frequency of multiple sclerosis relapses than fingolimod. It was also associated with an increased chance of recovery from disability among most patients, particularly women and those with no recent MRI activity., (© 2021. The Author(s), under exclusive licence to Springer Nature Switzerland AG.)
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- 2021
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45. Neurological complications induced by immune checkpoint inhibitors: a comprehensive descriptive case-series unravelling high risk of long-term sequelae.
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Plaçais L, Michot JM, Champiat S, Romano-Martin P, Baldini C, Joao MS, Marabelle A, Voisin AL, Not A, Labeyrie C, Beaudonnet G, Laparra A, Maria ATJ, Masseau A, Dehette S, Deleporte A, Echaniz-Laguna A, Denier C, Adams D, Lambotte O, Noel N, and Cauquil C
- Abstract
Neurological immune-related adverse events are complications of programmed-cell death 1 or programmed-cell death 1 ligand immunotherapies that can be life threatening and often lead to anticancer immunotherapy withdrawal. Scant clinical data are available that integrate the clinical presentation, therapeutic management and long-term outcome. All consecutive adult patients treated by programmed-cell death 1 or programmed-cell death 1 ligand immunotherapies, given alone or in combination with other treatment, who experienced a neurological immune-related adverse event with a severity grade ≥2 in Paris Saclay-University hospitals were investigated from June 2014 to February 2019. The frequency of neurological immune-related adverse events was calculated from the prospective Registre des Effets Indésirables Sévères des Anticorps Monoclonaux Immunomodulateurs en Cancérologie cohort. Forty patients presenting with 51 distinct neurological immune-related adverse events were included. The prevalence of grade ≥2 neurological immune-related adverse events was estimated to be 1.22% in the Registre des Effets Indésirables Sévères des Anticorps Monoclonaux Immunomodulateurs en Cancérologie cohort. Among 40 patients with neurological immune-related adverse events, 65% received programmed-cell death 1 or programmed-cell death 1 ligand monotherapy and 35% received a combination of programmed-cell death 1 plus anti-CTLA4 (Common Terminology Criteria for Adverse Events). Clinical neurological presentations were peripheral (48%), central (35%), or mixed (18%). The severity of neurological immune-related adverse events was grade 2 for 14 (35%) and ≥grade 3 for 26 patients (65%). The mortality rate related to neurological immune-related adverse events was 8%. Corticosteroid treatment led to neurological recovery in 74%. Long-term follow-up highlighted that 53% of patients experienced long-term neurological sequelae. Five patients were rechallenged by programmed-cell death 1 monotherapy without recurrence of their neurological immune-related adverse event(s). Neurological immune-related adverse events induced by programmed-cell death 1 or programmed-cell death 1 ligand are rare but are severe with a mortality rate of 8% and long-term sequelae for 53% of patients. Corticosteroids should be started when neurological immunological complications are identified to avoid long-term sequelae., (© The Author(s) (2021). Published by Oxford University Press on behalf of the Guarantors of Brain.)
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- 2021
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46. Determinants of therapeutic lag in multiple sclerosis.
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Roos I, Leray E, Frascoli F, Casey R, Brown JWL, Horakova D, Havrdova EK, Debouverie M, Trojano M, Patti F, Izquierdo G, Eichau S, Edan G, Prat A, Girard M, Duquette P, Onofrj M, Lugaresi A, Grammond P, Ciron J, Ruet A, Ozakbas S, De Seze J, Louapre C, Zephir H, Sá MJ, Sola P, Ferraro D, Labauge P, Defer G, Bergamaschi R, Lebrun-Frenay C, Boz C, Cartechini E, Moreau T, Laplaud D, Lechner-Scott J, Grand'Maison F, Gerlach O, Terzi M, Granella F, Alroughani R, Iuliano G, Van Pesch V, Van Wijmeersch B, Spitaleri D, Soysal A, Berger E, Prevost J, Aguera-Morales E, McCombe P, Castillo Triviño T, Clavelou P, Pelletier J, Turkoglu R, Stankoff B, Gout O, Thouvenot E, Heinzlef O, Sidhom Y, Gouider R, Csepany T, Bourre B, Al Khedr A, Casez O, Cabre P, Montcuquet A, Wahab A, Camdessanche JP, Maurousset A, Patry I, Hankiewicz K, Pottier C, Maubeuge N, Labeyrie C, Nifle C, Coles A, Malpas CB, Vukusic S, Butzkueven H, and Kalincik T
- Subjects
- Disability Evaluation, Disease Progression, Female, Humans, Male, Recurrence, Registries, Disabled Persons, Multiple Sclerosis drug therapy, Multiple Sclerosis, Relapsing-Remitting
- Abstract
Background: A delayed onset of treatment effect, termed therapeutic lag, may influence the assessment of treatment response in some patient subgroups., Objectives: The objective of this study is to explore the associations of patient and disease characteristics with therapeutic lag on relapses and disability accumulation., Methods: Data from MSBase, a multinational multiple sclerosis (MS) registry, and OFSEP, the French MS registry, were used. Patients diagnosed with MS, minimum 1 year of exposure to MS treatment and 3 years of pre-treatment follow-up, were included in the analysis. Studied outcomes were incidence of relapses and disability accumulation. Therapeutic lag was calculated using an objective, validated method in subgroups stratified by patient and disease characteristics. Therapeutic lag under specific circumstances was then estimated in subgroups defined by combinations of clinical and demographic determinants., Results: High baseline disability scores, annualised relapse rate (ARR) ⩾ 1 and male sex were associated with longer therapeutic lag on disability progression in sufficiently populated groups: females with expanded disability status scale (EDSS) < 6 and ARR < 1 had mean lag of 26.6 weeks (95% CI = 18.2-34.9), males with EDSS < 6 and ARR < 1 31.0 weeks (95% CI = 25.3-36.8), females with EDSS < 6 and ARR ⩾ 1 44.8 weeks (95% CI = 24.5-65.1), and females with EDSS ⩾ 6 and ARR < 1 54.3 weeks (95% CI = 47.2-61.5)., Conclusions: Pre-treatment EDSS and ARR are the most important determinants of therapeutic lag.
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- 2021
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47. Genotype-phenotype correlation in French patients with myelin protein zero gene-related inherited neuropathy.
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Subréville M, Bonello-Palot N, Yahiaoui D, Beloribi-Djefaflia S, Fernandes S, Stojkovic T, Cassereau J, Péréon Y, Echaniz-Laguna A, Violleau MH, Soulages A, Louis SL, Masingue M, Magot A, Delmont E, Sacconi S, Adams D, Labeyrie C, Genestet S, Noury JB, Chanson JB, Lévy N, Juntas-Morales R, Tard C, Sole G, and Attarian S
- Subjects
- Genetic Association Studies, Humans, Mutation, Phenotype, Retrospective Studies, Charcot-Marie-Tooth Disease genetics, Myelin P0 Protein genetics
- Abstract
Background and Purpose: Preparations for clinical trials of unfolded protein response (UPR) inhibitors (such as Sephin1) that target the upregulated UPR in patients with Charcot-Marie-Tooth disease (CMT) carrying MPZ mutations are currently underway. The inclusion criteria for these trials are still being formulated. Our objective was to characterize the relation between genotypes and phenotypes in patients with CMT caused by MPZ mutations, and to refine the inclusion criteria for future trials., Methods: Clinical and neurophysiological data of CMT patients with MPZ mutations were retrospectively collected at 11 French reference centers., Results: Forty-four mutations in MPZ were identified in 91 patients from 61 families. There was considerable heterogeneity. The same mutation was found to cause either axonal or demyelinating neuropathy. Three groups were identified according to the age at disease onset. CMT Examination Score (CMTES) tended to be higher in the early (≤22 years) and adult (23-47 years) onset groups (mean CMTESv2 = 10.4 and 10.0, respectively) than in the late onset group (>47 years, mean CMTESv2 = 8.6, p = 0.47). There was a significant positive correlation between CMTESv2 and the age of patients in Groups I (p = 0.027) and II (p = 0.023), indicating that clinical severity progressed with age in these patients., Conclusions: To optimize the selection of CMT patients carrying MPZ mutations for the upcoming trials, inclusion criteria should take into account the pathophysiology of the disease (upregulated UPR). Recruited patients should have a mild to moderate disease severity and a disease onset at between 18 and 50 years, as these patients exhibit significant disease progression over time., (© 2021 European Academy of Neurology.)
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- 2021
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48. [Autologous hematopoietic stem cell transplantation for chronic inflammatory demyelinating polyneuropathy].
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Urbain F, Labeyrie C, Castilla-Llorente C, Cintas P, Puma A, Maubeuge N, Puyade M, and Farge D
- Subjects
- Humans, Immunomodulation, Transplantation, Autologous, Autoimmune Diseases, Hematopoietic Stem Cell Transplantation, Polyradiculoneuropathy, Chronic Inflammatory Demyelinating diagnosis, Polyradiculoneuropathy, Chronic Inflammatory Demyelinating therapy
- Abstract
Chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) is a dysimmune neuropathy with sensory and/or motor symptoms due to destruction of the myelin sheat secondary to an auto-immune attack. A quarter to a third of patients do not respond to immunomodulatory first line recommended therapies. No second line treatment has shown its effectiveness with a sufficient level of evidence. Autologous hematopoietic stem cell transplantation (AHSCT) is a promising therapy for autoimmune disease, especially for CIDP in recent works. We present in this article an update on the diagnosis of CIDP, its conventional treatments as well as the results of AHSCT in this indication, which was the subject of French recommendations under the aegis of the SFGMTC and neuromuscular disease french faculty (FILNEMUS) as a third line therapy after failure of two first-line and one second-line treatments., (Copyright © 2021 Société Nationale Française de Médecine Interne (SNFMI). Published by Elsevier Masson SAS. All rights reserved.)
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- 2021
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49. Inflammatory demyelinating polyneuropathies and lymphoma: clues to diagnosis and therapy.
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Noel N, Beaudonnet G, Cauquil C, Laurenge A, De Menthon M, Labeyrie C, Chrétien P, Adam C, Hacein-Bey-Abina S, Goujard C, Lambotte O, and Adams D
- Subjects
- Humans, Lymphoma diagnosis, Lymphoma therapy, Polyneuropathies, Polyradiculoneuropathy, Chronic Inflammatory Demyelinating diagnosis, Polyradiculoneuropathy, Chronic Inflammatory Demyelinating therapy
- Published
- 2021
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50. The effectiveness of natalizumab vs fingolimod-A comparison of international registry studies.
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Andersen JB, Sharmin S, Lefort M, Koch-Henriksen N, Sellebjerg F, Sørensen PS, Hilt Christensen CC, Rasmussen PV, Jensen MB, Frederiksen JL, Bramow S, Mathiesen HK, Schreiber KI, Horakova D, Havrdova EK, Alroughani R, Izquierdo G, Eichau S, Ozakbas S, Patti F, Onofrj M, Lugaresi A, Terzi M, Grammond P, Grand Maison F, Yamout B, Prat A, Girard M, Duquette P, Boz C, Trojano M, McCombe P, Slee M, Lechner-Scott J, Turkoglu R, Sola P, Ferraro D, Granella F, Shaygannejad V, Prevost J, Skibina O, Solaro C, Karabudak R, Wijmeersch BV, Csepany T, Spitaleri D, Vucic S, Casey R, Debouverie M, Edan G, Ciron J, Ruet A, Sèze JD, Maillart E, Zephir H, Labauge P, Defer G, Lebrun C, Moreau T, Berger E, Clavelou P, Pelletier J, Stankoff B, Gout O, Thouvenot E, Heinzlef O, Al-Khedr A, Bourre B, Casez O, Cabre P, Montcuquet A, Wahab A, Camdessanché JP, Marousset A, Patry I, Hankiewicz K, Pottier C, Maubeuge N, Labeyrie C, Nifle C, Leray E, Laplaud DA, Butzkueven H, Kalincik T, Vukusic S, and Magyari M
- Subjects
- Humans, Immunosuppressive Agents therapeutic use, Natalizumab therapeutic use, Registries, Treatment Outcome, Fingolimod Hydrochloride therapeutic use, Multiple Sclerosis, Relapsing-Remitting drug therapy
- Abstract
Background: Natalizumab and fingolimod were the first preparations recommended for disease breakthrough in priorly treated relapsing-remitting multiple sclerosis. Of three published head-to-head studies two showed that natalizumab is the more effective to prevent relapses and EDSS worsening., Methods: By re-analyzing original published results from MSBase, France, and Denmark using uniform methodologies, we aimed at identifying the effects of differences in methodology, in the MS-populations, and at re-evaluating the differences in effectiveness between the two drugs. We gained access to copies of the individual amended databases and pooled all data. We used uniform inclusion/exclusion criteria and statistical methods with Inverse Probability Treatment Weighting., Results: The pooled analyses comprised 968 natalizumab- and 1479 fingolimod treated patients. The on-treatment natalizumab/fingolimod relapse rate ratio was 0.77 (p=0.004). The hazard ratio (HR) for a first relapse was 0.82 (p=0.030), and the HR for sustained EDSS improvement was 1.4 (p=0.009). There were modest differences between each of the original published studies and the replication study, but the conclusions of the three original studies remained unchanged: in two of them natalizumab was more effective, but in the third there was no difference between natalizumab and fingolimod., Conclusion: The results were largely invariant to the epidemiological and statistical methods but differed between the MS populations. Generally, the advantage of natalizumab was confirmed., (Copyright © 2021 Elsevier B.V. All rights reserved.)
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- 2021
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