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المؤلفون: Samuel Arends, Judith Drenthen, Peter van den Bergh, Hessel Franssen, Robert D.M. Hadden, Badrul Islam, Satoshi Kuwabara, Ricardo C. Reisin, Nortina Shahrizaila, Hiroshi Amino, Giovanni Antonini, Shahram Attarian, Claudia Balducci, Fabio Barroso, Tulio Bertorini, Davide Binda, Thomas H. Brannagan, Jan Buermann, Carlos Casasnovas, Guido Cavaletti, Chi-Chao Chao, Mazen M. Dimachkie, Ernesto A. Fulgenzi, Giuliana Galassi, Gerardo Gutiérrez Gutiérrez, Thomas Harbo, Hans-Peter Hartung, Sung-Tsang Hsieh, Lynette Kiers, Helmar C. Lehmann, Fiore Manganelli, Girolama A. Marfia, Giorgia Mataluni, Julio Pardo, Yann Péréon, Yusuf A. Rajabally, Lucio Santoro, Yukari Sekiguchi, Beth Stein, Mark Stettner, Antonino Uncini, Christine Verboon, Camiel Verhamme, Michal Vytopil, Waqar Waheed, Min Wang, Sasha Zivkovic, Bart C. Jacobs, David R. Cornblath, J.M. Addington, S. Ajroud-Driss, H. Andersen, G. Antonini, S. Attarian, U.A. Badrising, G. Balloy, F.A. Barroso, K. Bateman, I.R. Bella, L. Benedetti, P. van den Bergh, T.E. Bertorini, R. Bhavaraju-Sanka, M. Bianco, T.H. Brannagan, C. Briani, null Buerrmann, M. Busby, S. Butterworth, C. Casasnovas, G. Cavaletti, C.C. Chao, G. Chavada, S. Chen, K.G. Claeys, M.E. Conti, D.R. Cornblath, J.S. Cosgrove, M.C. Dalakas, P. van Damme, E. Dardiotis, A. Davidson, M.A. Derejko, G.W. van Dijk, M.M. Dimachkie, P.A. van Doorn, C. Dornonville de la Cour, A. Echaniz-Laguna, F. Eftimov, C.G. Faber, R. Fazio, T.E. Feasby, C. Fokke, T. Fujioka, E.A. Fulgenzi, G. Galassi, T. Garcia-Sobrino, M.P.J. Garssen, C.J. Gijsbers, J.M. Gilchrist, H.J. Gilhuis, J.M. Goldstein, K.C. Gorson, N.A. Goyal, V. Granit, S.T.E. Grisanti, null Gutiérrez-Gutiérrez, L. Gutmann, R.D.M. Hadden, T. Harbo, H.P. Hartung, J.V. Holbech, J.K.L. Holt, S.T. Hsieh, M. Htut, R.A.C. Hughes, I. Illa, B. Islam, Z. Islam, B.C. Jacobs, J. Fehmi, K. Jellema, I. Jerico Pascual, K. Kaida, S. Karafiath, H.D. Katzberg, M.A. Khoshnoodi, L. Kiers, K. Kimpinski, R.P. Kleyweg, N. Kokubun, N.A. Kolb, R. van Koningsveld, A.J. van der Kooi, J.C.H.M. Kramers, K. Kuitwaard, S. Kusunoki, S. Kuwabara, J.Y. Kwan, S.S. Ladha, L. Landschoff Lassen, V. Lawson, H.C. Lehmann, E. Lee Pan, M.P.T. Lunn, H. Manji, G.A. Marfia, C. Márquez Infante, L. Martin-Aguilar, E. Martinez Hernandez, G. Mataluni, M. Mattiazi, C.J. McDermott, G.D. Meekins, J.A.L. Miller, Q.D. Mohammad, M.S. Monges, G. Moris de la Tassa, C. Nascimbene, F.J. Navacerrada-Barrero, E. Nobile-Orazio, R.J. Nowak, P.J. Orizaola, M. Osei-Bonsu, A.M. Pardal, J. Pardo, R.M. Pascuzzi, Y. Péréon, M.T. Pulley, L. Querol, S.W. Reddel, T. van der Ree, R.C. Reisin, S. Rinaldi, R.C. Roberts, I. Rojas-Marcos, null Rudnicki, G.M. Sachs, J.P.A. Samijn, L. Santoro, A. Schenone, M.J. Sedano Tous, N. Shahrizaila, K.A. Sheikh, N.J. Silvestri, S.H. Sindrup, C.L. Sommer, B. Stein, Y. Song, A.M. Stino, H. Tankisi, M.R. Tannemaat, P. Twydell, P.V. Vélez-Santamaria, J.D. Varrato, F.H. Vermeij, L.H. Visser, M.V. Vytopil, W. Waheed, C. Walgaard, Y.Z. Wang, H.J. Willison, P.W. Wirtz, Y. Yamagishi, L. Zhou, S.A. Zivkovic
المساهمون: Neurology, ANS - Neuroinfection & -inflammation, EURO-NMD, Immunology, Arends, S., Drenthen, J., van den Bergh, P., Franssen, H., Hadden, R. D. M., Islam, B., Kuwabara, S., Reisin, R. C., Shahrizaila, N., Amino, H., Antonini, G., Attarian, S., Balducci, C., Barroso, F., Bertorini, T., Binda, D., Brannagan, T. H., Buermann, J., Casasnovas, C., Cavaletti, G., Chao, C. -C., Dimachkie, M. M., Fulgenzi, E. A., Galassi, G., Gutierrez Gutierrez, G., Harbo, T., Hartung, H. -P., Hsieh, S. -T., Kiers, L., Lehmann, H. C., Manganelli, F., Marfia, G. A., Mataluni, G., Pardo, J., Pereon, Y., Rajabally, Y. A., Santoro, L., Sekiguchi, Y., Stein, B., Stettner, M., Uncini, A., Verboon, C., Verhamme, C., Vytopil, M., Waheed, W., Wang, M., Zivkovic, S., Jacobs, B. C., Cornblath, D. R., Arends, S, Drenthen, J, van den Bergh, P, Franssen, H, Hadden, R, Islam, B, Kuwabara, S, Reisin, R, Shahrizaila, N, Amino, H, Antonini, G, Attarian, S, Balducci, C, Barroso, F, Bertorini, T, Binda, D, Brannagan, T, Buermann, J, Casasnovas, C, Cavaletti, G, Chao, C, Dimachkie, M, Fulgenzi, E, Galassi, G, Gutierrez Gutierrez, G, Harbo, T, Hartung, H, Hsieh, S, Kiers, L, Lehmann, H, Manganelli, F, Marfia, G, Mataluni, G, Pardo, J, Pereon, Y, Rajabally, Y, Santoro, L, Sekiguchi, Y, Stein, B, Stettner, M, Uncini, A, Verboon, C, Verhamme, C, Vytopil, M, Waheed, W, Wang, M, Zivkovic, S, Jacobs, B, Cornblath, D, UCL - (SLuc) Centre de référence neuromusculaire, UCL - (SLuc) Service de neurologie
المصدر: Clinical Neurophysiology, 138, 231-240. ELSEVIER IRELAND LTD
Clinical neurophysiology, 138, 231-240. Elsevier Ireland Ltd
Dipòsit Digital de la UB
Universidad de Barcelona
Arends, S, Drenthen, J, van den Bergh, P, Franssen, H, Hadden, R D M, Islam, B, Kuwabara, S, Reisin, R C, Shahrizaila, N, Amino, H, Antonini, G, Attarian, S, Balducci, C, Barroso, F, Bertorini, T, Binda, D, Brannagan, T H, Buermann, J, Casasnovas, C, Cavaletti, G, Chao, C C, Dimachkie, M M, Fulgenzi, E A, Galassi, G, Gutiérrez Gutiérrez, G, Harbo, T, Hartung, H P, Hsieh, S T, Kiers, L, Lehmann, H C, Manganelli, F, Marfia, G A, Mataluni, G, Pardo, J, Péréon, Y, Rajabally, Y A, Santoro, L, Sekiguchi, Y, Stein, B & the IGOS consortium 2022, ' Electrodiagnosis of Guillain-Barre syndrome in the International GBS Outcome Study : Differences in methods and reference values ', Clinical Neurophysiology, vol. 138, pp. 231-240 . https://doi.org/10.1016/j.clinph.2021.12.014Test
Clinical Neurophysiology, 138, 231-240. Elsevier Ireland Ltd
Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology, Vol. 138, no.1, p. 231-240 (2022)مصطلحات موضوعية: Nerve conduction studie, Electrodiagnòstic, Malalties autoimmunitàries, Electromyography, Electrodiagnosis, Autoimmune diseases, Neural Conduction, Medizin, Settore MED/26, Guillain-Barre Syndrome, AIDP, AMSAN, Sensory Systems, Reference values, Clinical trials, AMAN, Neurology, Physiology (medical), Outcome Assessment, Health Care, Humans, Nerve conduction studies, Neurology (clinical), Reference value, Assaigs clínics
الوصف: Objective: To describe the heterogeneity of electrodiagnostic (EDx) studies in Guillain-Barre syndrome (GBS) patients collected as part of the International GBS Outcome Study (IGOS). Methods: Prospectively collected clinical and EDx data were available in 957 IGOS patients from 115 centers. Only the first EDx study was included in the current analysis. Results: Median timing of the EDx study was 7 days (interquartile range 4-11) from symptom onset. Methodology varied between centers, countries and regions. Reference values from the responding 103 centers were derived locally in 49%, from publications in 37% and from a combination of these in the remaining 15%. Amplitude measurement in the EDx studies (baseline-to-peak or peak-to-peak) differed from the way this was done in the reference values, in 22% of motor and 39% of sensory conduction. There was marked variability in both motor and sensory reference values, although only a few outliers accounted for this. Conclusions: Our study showed extensive variation in the clinical practice of EDx in GBS patients among IGOS centers across the regions. Significance: Besides EDx variation in GBS patients participating in IGOS, this diversity is likely to be present in other neuromuscular disorders and centers. This underlines the need for standardization of EDx in future multinational GBS studies.(c) 2022 International Federation of Clinical Neurophysiology. Published by Elsevier B.V. This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0Test/).
وصف الملف: application/pdf; STAMPA
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::45d27d06cfd93e03fcd6d104d087bdc1Test
https://doi.org/10.1016/j.clinph.2021.12.014Test -
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المؤلفون: Carina Bunschoten, Pieter A. van Doorn, Bart C. Jacobs, David R. Cornblath, Luis Querol, Peter Van den Bergh
المساهمون: Neurology, Immunology
المصدر: Journal of the Peripheral Nervous System, 25, 4-8. Wiley-Blackwell Publishing Ltd
مصطلحات موضوعية: medicine.medical_specialty, Polyradiculoneuropathy, Chronic Inflammatory Demyelinating, business.industry, General Neuroscience, medicine, MEDLINE, Humans, Polyradiculoneuropathy, Syndrome, Neurology (clinical), medicine.disease, business, Dermatology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ff39f4560400b64fc3f7d08bbe2bafeeTest
https://doi.org/10.1111/jns.12364Test -
13
المؤلفون: Bart C. Jacobs, Pieter A. van Doorn, Peter Van den Bergh, Carina Bunschoten, David R. Cornblath
المساهمون: UCL - SSS/IONS/NEUR - Clinical Neuroscience, UCL - (SLuc) Service de neurologie, Neurology, Immunology
المصدر: The Lancet. Neurology, Vol. 18, no. 8, p. 784-794 (2019)
Lancet Neurology, 18(8), 784-794. Lancet Publishing Groupمصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Future studies, Nerve ultrasound, Disease, Subcutaneous immunoglobulin, 03 medical and health sciences, 0302 clinical medicine, Adrenal Cortex Hormones, Immunoglobulin g4, medicine, Humans, Intensive care medicine, Plasma Exchange, Treatment regimen, business.industry, Immunoglobulins, Intravenous, Polyradiculoneuropathy, medicine.disease, Treatment Outcome, 030104 developmental biology, Polyradiculoneuropathy, Chronic Inflammatory Demyelinating, Neurology (clinical), business, 030217 neurology & neurosurgery, After treatment
الوصف: Chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) is a rare and heterogeneous but treatable immune-mediated neuropathy. Nerve conduction studies are considered essential for a definite diagnosis, but poor performance and misinterpretation of the results frequently leads to misdiagnosis. Nerve ultrasound and MRI could be helpful in diagnosis. Whereas typical CIDP is relatively easy to diagnose, atypical variants with distinct phenotypes can be a diagnostic challenge. Intravenous or subcutaneous immunoglobulin, corticosteroids, and plasma exchange are effective treatments, but maintenance treatments are often required for years, and treatment regimens require careful and regular adjustments to avoid undertreatment or overtreatment. Patients who do not improve, or insufficiently improve after treatment, might have specific characteristics related to a distinct disease mechanism caused by immunoglobulin G4 antibodies to nodal or paranodal proteins, and could require alternative treatments. Future studies should focus on curative and individualised treatment regimens to improve the patient's condition and to prevent further nerve damage.
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c03562102041e48b98e68f5555bc0d84Test
https://doi.org/10.1016/s1474-4422Test(19)30144-9 -
14EAN guidance for developing and reporting clinical practice guidelines on rare neurological diseases
المؤلفون: Maxwell S. Damian, Lori Renna Linton, Lucia Pavlakova, Claudio L. Bassetti, Maurizio Leone, Thomas Berger, Antonio Toscano, Günther Deuschl, Massimiliano Copetti, Costanza Lamperti, Georg Zimmermann, Johann Sellner, Eugene Trinka, Teia Kobulashvili, Katina Aleksovska, Antonio Federico, Fusun Erdogan, Alessandra Fanciulli, Marianne de Visser, Jean-Marc Burgunder, Martin Rakusa, Luca Vignatelli, Carola Reinhard, Norbert Kovács, Ségolène Aymé, João Costa, Svetlana Kopishinskaya, Peter Van den Bergh, Karen Ritchie, Holm Graessner, Marie Vidailhet, Serenella Servidei, Christian Krarup, Davide Pareyson, Theresina Evangelista
مصطلحات موضوعية: Clinical Practice, medicine.medical_specialty, Neurology, business.industry, Medicine, Neurology (clinical), business, Intensive care medicine
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::baabab69bc6214e337c53c587b4253ebTest
https://avesis.erciyes.edu.tr/publication/details/57242475-0f20-4a25-99be-47c6bd07c1a2/oaiTest -
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المؤلفون: Inès Mademan, Lauren E. Drake, James Shorter, Kevin J. O'Donovan, Alice Flynn Ford, Andrzej Kochański, Matthew T. Wheeler, Kristof Van Schil, Nicolas Dubuisson, Richard J.L.F. Lemmers, Silvère M. van der Maarel, Jonathan Baets, Devon Bonner, J. Paul Taylor, Peter De Jonghe, Tine Deconinck, Jacinda B. Sampson, Charlotte M. Fare, Anahit Mehrabyan, Peter Van den Bergh, Nicol C. Voermans, Dagmara Kabzińska, Lin Guo, Steven Palmer, Danique Beijer, Hong Joo Kim
المساهمون: UCL - (SLuc) Service de neurologie, UCL - SSS/IREC/EDIN - Pôle d'endocrinologie, diabète et nutrition, UCL - (SLuc) Centre de référence neuromusculaire
المصدر: Jci Insight, 6, 14
JCI Insight, 6(14). AMER SOC CLINICAL INVESTIGATION INC
JCI Insight
JCI insight, Vol. 6, no.14, p. 1-18 (2021)
Jci Insight, 6
JCI insightمصطلحات موضوعية: Adult, Male, Heterozygote, TIA1, Heterogeneous nuclear ribonucleoprotein, Adolescent, Heterogeneous Nuclear Ribonucleoprotein A1, DNA Mutational Analysis, Biology, Whole Exome Sequencing, Muscular Atrophy, Spinal, Young Adult, Stress granule, All institutes and research themes of the Radboud University Medical Center, Exome Sequencing, medicine, Genetics, Humans, Amyotrophic lateral sclerosis, Child, Genetic Association Studies, Amyotrophic Lateral Sclerosis, RNA, Translation (biology), General Medicine, Middle Aged, medicine.disease, Cell stress, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], Phenotype, Stress Granules, Cell biology, Pedigree, Chemistry, RNA splicing, Mutation, Female, Human medicine, Neurological disorders, Research Article, Neuroscience
الوصف: Mutations in HNRNPA1 encoding heterogeneous nuclear ribonucleoprotein (hnRNP) A1 are a rare cause of amyotrophic lateral sclerosis (ALS) and multisystem proteinopathy (MSP). hnRNPA1 is part of the group of RNA-binding proteins (RBPs) that assemble with RNA to form RNPs. hnRNPs are concentrated in the nucleus and function in pre-mRNA splicing, mRNA stability, and the regulation of transcription and translation. During stress, hnRNPs, mRNA, and other RBPs condense in the cytoplasm to form stress granules (SGs). SGs are implicated in the pathogenesis of (neuro-)degenerative diseases, including ALS and inclusion body myopathy (IBM). Mutations in RBPs that affect SG biology, including FUS, TDP-43, hnRNPA1, hnRNPA2B1, and TIA1, underlie ALS, IBM, and other neurodegenerative diseases. Here, we characterize 4 potentially novel HNRNPA1 mutations (yielding 3 protein variants: *321Eext*6, *321Qext*6, and G304Nfs*3) and 2 known HNRNPA1 mutations (P288A and D262V), previously connected to ALS and MSP, in a broad spectrum of patients with hereditary motor neuropathy, ALS, and myopathy. We establish that the mutations can have different effects on hnRNPA1 fibrillization, liquid-liquid phase separation, and SG dynamics. P288A accelerated fibrillization and decelerated SG disassembly, whereas *321Eext*6 had no effect on fibrillization but decelerated SG disassembly. By contrast, G304Nfs*3 decelerated fibrillization and impaired liquid phase separation. Our findings suggest different underlying pathomechanisms for HNRNPA1 mutations with a possible link to clinical phenotypes.
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7f44f7da41fba7d5d08ec3934beb42a6Test
https://hdl.handle.net/1887/3214438Test -
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المؤلفون: Louise Deldicque, Cheryl Elizabeth Hickmann, Pierre-François Laterre, Marc Francaux, Jean Roeseler, Diego Castanares-Zapatero, Peter Van den Bergh, Gilles Caty, Annie Robert
المصدر: Critical Care Medicine
مصطلحات موضوعية: muscle atrophy, Male, autophagy, early mobilization, medicine.medical_specialty, critically ill, Catabolic state, Clinical Investigations, Critical Care and Intensive Care Medicine, Muscle mass, law.invention, 03 medical and health sciences, 0302 clinical medicine, Randomized controlled trial, law, Secondary Prevention, medicine, Humans, Muscle, Skeletal, Physical Therapy Modalities, Secondary prevention, business.industry, Septic shock, catabolism, Skeletal muscle, 030208 emergency & critical care medicine, Middle Aged, medicine.disease, Shock, Septic, medicine.anatomical_structure, 030228 respiratory system, Shock (circulatory), ComputingMethodologies_DOCUMENTANDTEXTPROCESSING, Physical therapy, septic shock, Female, medicine.symptom, business
الوصف: Supplemental Digital Content is available in the text.
Objectives: As the catabolic state induced by septic shock together with the physical inactivity of patients lead to the rapid loss of muscle mass and impaired function, the purpose of this study was to test whether an early physical therapy during the onset of septic shock regulates catabolic signals and preserves skeletal muscle mass. Design: Randomized controlled trial. Setting: Tertiary mixed ICU. Patients: Adult patients admitted for septic shock within the first 72 hours. Interventions: Patients were assigned randomly into two groups. The control group benefited from manual mobilization once a day. The intervention group had twice daily sessions of both manual mobilization and 30-minute passive/active cycling therapy. Measurements and Main Results: Skeletal muscle biopsies and electrophysiology testing were performed at day 1 and day 7. Muscle biopsies were analyzed for histology and molecular components of signaling pathways regulating protein synthesis and degradation as well as inflammation markers. Hemodynamic values and patient perception were collected during each session. Twenty-one patients were included. Three died before the second muscle biopsy. Ten patients in the control and eight in the intervention group were analyzed. Markers of the catabolic ubiquitin-proteasome pathway, muscle atrophy F-box and muscle ring finger-1 messenger RNA, were reduced at day 7 only in the intervention group, but without difference between groups (muscle atrophy F-box: –7.3% ± 138.4% in control vs –56.4% ± 37.4% in intervention group; p = 0.23 and muscle ring finger-1: –30.8% ± 66.9% in control vs –62.7% ± 45.5% in intervention group; p = 0.15). Muscle fiber cross-sectional area (µm2) was preserved by exercise (–25.8% ± 21.6% in control vs 12.4% ± 22.5% in intervention group; p = 0.005). Molecular regulations suggest that the excessive activation of autophagy due to septic shock was lower in the intervention group, without being suppressed. Markers of anabolism and inflammation were not modified by the intervention, which was well tolerated by the patients. Conclusions: Early physical therapy during the first week of septic shock is safe and preserves muscle fiber cross-sectional area.الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1ffa5b41e45a01e22968412e6a7c9c1aTest
https://doi.org/10.1097/ccm.0000000000003263Test -
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المؤلفون: Anna Sarkozy, Erik-Jan Kamsteeg, Mark Pfuhl, Nicol C. Voermans, Martin Rees, Corrie E. Erasmus, Hülya-Sevcan Daimagüler, Steven A. Moore, Rahul Phadke, Mark R. Holt, Rolf Schröder, Istvan Bodi, Carla Grosmann, Sebahattin Cirak, E. Matthews, Ay Lin Kho, Peter Van den Bergh, Christian Thiel, Shane McKee, Joel Victor Fluss, Roksana Nikoopour, Charu Deshpande, Jens Reimann, Emily C. Oates, Maria Elena Farrugia, Özkan Özdemir, Isabelle Richard, Cristina Domínguez-González, Chaminda Konersman, Ekkehard Wilichowski, Birgit Brandmeier, Atsushi Fukuzawa, Ana Ferreiro, Heinz Jungbluth, Ros Quinlivan, Sandya Tirupathi, Mathias Gautel, Gabriele Dekomien, Cheryl Longman, Miguel A Fernandez-Garcia, Francesco Muntoni, Michael G. Hanna, Elizabeth Wraige, Elke Hobbiebrunken, Sarah Grover
المساهمون: UCL - SSS/IONS - Institute of NeuroScience, UCL - (SLuc) Service de neurologie, UCL - (SLuc) Centre de référence neuromusculaire, King‘s College London, Evelina London Children's Hospital, Guy's Hospital [London], University of Cologne, Children’s University Hospital of Geneva [Switzerland], Queen Elizabeth University Hospital (Glasgow), National Hospital for Neurology and Neurosurgery [London, UK], Great Ormond Street Hospital for Children [London] (GOSH), University College of London [London] (UCL), University of New South Wales [Sydney] (UNSW), Westmead Hospital [Sydney], University Hospital Erlangen [Germany], Universitätsklinikum Erlangen [Erlangen], University of Bonn Medical Centre [Bonn], Radboud university [Nijmegen], Rady Children's Hospital, Belfast City Hospital, Royal Belfast Hospital for Sick Children, University of Iowa [Iowa City], University of Göttingen - Georg-August-Universität Göttingen, Approches génétiques intégrées et nouvelles thérapies pour les maladies rares (INTEGRARE), Université d'Évry-Val-d'Essonne (UEVE)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris-Saclay-Généthon, Généthon, Saint-Luc University Hospital [Brussels, Belgium], Hospital Universitario 12 de Octubre [Madrid], Université de Paris (UP), Institut de Myologie, Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Association française contre les myopathies (AFM-Téléthon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), CHU Charles Foix [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), King's College Hospital (KCH), MRC Centre for Neuromuscular Diseases [London, UK], University Hospital Erlangen = Uniklinikum Erlangen, Radboud University [Nijmegen], Radboud University Medical Center [Nijmegen], Gillette Children's Specialty Healthcare [St Paul], Georg-August-University = Georg-August-Universität Göttingen, Ruhr-Universität Bochum [Bochum], Université Paris Cité (UPCité), Unité de Biologie Fonctionnelle et Adaptative (BFA (UMR_8251 / U1133)), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPCité)
المصدر: Acta Neuropathologica, 141, 431-453
Acta Neuropathologica, Vol. 141, no. 3, p. 431-453 (2021)
Acta Neuropathologica, 141, 3, pp. 431-453
Acta Neuropathologica
Acta Neuropathologica, Springer Verlag, 2021, 141 (3), pp.431-453. ⟨10.1007/s00401-020-02257-0⟩
Acta Neuropathologica, 2021, 141 (3), pp.431-453. ⟨10.1007/s00401-020-02257-0⟩مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Weakness, Adolescent, Myotonia Congenita, Mutation, Missense, Other Research Donders Center for Medical Neuroscience [Radboudumc 0], Extraocular muscles, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], Pathology and Forensic Medicine, Young Adult, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, Humans, Medicine, Missense mutation, Connectin, Child, Myopathy, Aged, Muscle contracture, Genetics, Phenocopy, Original Paper, biology, business.industry, Infant, [SDV.BBM.BM]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Molecular biology, Middle Aged, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], medicine.disease, Congenital myopathy, 3. Good health, 030104 developmental biology, medicine.anatomical_structure, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Child, Preschool, biology.protein, Female, Titin, Neurology (clinical), medicine.symptom, business, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology, 030217 neurology & neurosurgery
الوصف: Mutations in the sarcomeric protein titin, encoded byTTN, are emerging as a common cause of myopathies. The diagnosis of aTTN-related myopathy is, however, often not straightforward due to clinico-pathological overlap with other myopathies and the prevalence ofTTNvariants in control populations. Here, we present a combined clinico-pathological, genetic and biophysical approach to the diagnosis ofTTN-related myopathies and the pathogenicity ascertainment ofTTNmissense variants. We identified 30 patients with a primaryTTN-related congenital myopathy (CM) and two truncating variants, or one truncating and one missenseTTNvariant, or homozygous for oneTTNmissense variant. We found that TTN-related myopathies show considerable overlap with other myopathies but are strongly suggested by a combination of certain clinico-pathological features. Presentation was typically at birth with the clinical course characterized by variable progression of weakness, contractures, scoliosis and respiratory symptoms but sparing of extraocular muscles. Cardiac involvement depended on the variant position. Our biophysical analyses demonstrated that missense mutations associated with CMs are strongly destabilizing and exert their effect when expressed on a truncating background or in homozygosity. We hypothesise that destabilizingTTNmissense mutations phenocopy truncating variants and are a key pathogenic feature of recessive titinopathies that might be amenable to therapeutic intervention.
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a50b0834b2069a16869cd3b6e7cc432fTest
http://hdl.handle.net/2066/231686Test -
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المؤلفون: H. Stephan Goedee, Thierry Kuntzer, Shahram Attarian, Yusuf A. Rajabally, Peter Van den Bergh
المساهمون: UCL - SSS/IONS - Institute of NeuroScience, UCL - SSS/IONS/NEUR - Clinical Neuroscience, UCL - (SLuc) Service de neurologie
المصدر: Journal of neurology, neurosurgery, and psychiatry, Vol. 92, no.9, p. 975-982 (2021)
مصطلحات موضوعية: medicine.medical_specialty, Iatrogenic Disease, systematic reviews, Context (language use), Neuropathology, 03 medical and health sciences, 0302 clinical medicine, Immune system, Intervention (counseling), Epidemiology, Medicine, Humans, Intensive care medicine, business.industry, Peripheral Nervous System Diseases, Causality, Clinical Practice, Psychiatry and Mental health, Systematic review, Immune System Diseases, neurotoxicology, 030220 oncology & carcinogenesis, Surgery, neuropathy, Neurology (clinical), neuromuscular, business, 030217 neurology & neurosurgery, guillain-barre syndrome
الوصف: Acute and chronic immune-mediated neuropathies have been widely reported with medical intervention. Although causal relationship may be uncertain in many cases, a variety of drugs, several vaccination types, surgical procedures and bone marrow transplants have been reported as possible cause or trigger of a putative immune-mediated response resulting in acute and chronic neuropathies. We conducted a systematic review of the literature from 1966 to 2020 on reported cases of possible iatrogenic immune-mediated neuropathies. We determined in each case the likelihood of causality based on frequency of the association, focusing primarily on clinical presentation and disease course as well as available ancillary investigations (electrophysiology, blood and cerebrospinal fluid and neuropathology). The response to immunotherapy and issue of re-exposure were also evaluated. We also considered hypothesised mechanisms of onset of immune-mediated neuropathy in the specific iatrogenic context. We believe that a likely causal relationship exists for only few drugs, mainly antitumour necrosis factor alpha agents and immune checkpoint inhibitors, but remains largely unsubstantiated for most other suggested iatrogenic causes. Unfortunately, given the lack of an accurate diagnostic biomarker for most immune-mediated neuropathies, clinical assessment will often override ancillary investigations, resulting in lower levels of certainty that may continue to cast serious doubts on reliability of their diagnosis. Consequently, future reports of suspected cases should collect and exhaustively assess all relevant data. At the current time, besides lack of evidence for causality, the practical implications on management of suspected cases is extremely limited and therapeutic decisions appear likely no different to those made in non-iatrogenic cases.
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::339c4a783959dfb334d9ca4858f25d32Test
https://hdl.handle.net/2078.1/264699Test -
19
المؤلفون: Pieter A. van Doorn, Patricia H. Blomkwist-Markens, Michael P. Lunn, Filip Eftimov, Haluk Topaloglu, H. Stephan Goedee, Luis Querol, Claudia Sommer, Shahram Attarian, Bert Avau, Patrik Vankrunkelsven, Thomas Harbo, Yusuf A. Rajabally, Peter Van den Bergh, Jeffrey A. Allen, Satoshi Kuwabara, David R. Cornblath, Eduardo Nobile-Orazio, Richard A. Lewis, Robert D M Hadden
المساهمون: UCL - SSS/IONS - Institute of NeuroScience, UCL - (SLuc) Service de neurologie, UCL - (SLuc) Centre de référence neuromusculaire, Neurology, AII - Inflammatory diseases, ANS - Neuroinfection & -inflammation, EURO-NMD
المصدر: European journal of neurology, Vol. 28, no.11, p. 3556-3583 (2021)
Journal of the peripheral nervous system, Vol. 26, no.3, p. 242-268 (2021)
Van den Bergh, P Y K, van Doorn, P A, Hadden, R D M, Avau, B, Vankrunkelsven, P, Allen, J A, Attarian, S, Blomkwist-Markens, P H, Cornblath, D R, Eftimov, F, Goedee, H S, Harbo, T, Kuwabara, S, Lewis, R A, Lunn, M P, Nobile-Orazio, E, Querol, L, Rajabally, Y A, Sommer, C & Topaloglu, H A 2021, ' European Academy of Neurology/Peripheral Nerve Society guideline on diagnosis and treatment of chronic inflammatory demyelinating polyradiculoneuropathy : Report of a joint Task Force—Second revision ', Journal of the Peripheral Nervous System, vol. 26, no. 3, pp. 242-268 . https://doi.org/10.1111/jns.12455Test
Van den Bergh, P Y K, van Doorn, P A, Hadden, R D M, Avau, B, Vankrunkelsven, P, Allen, J A, Attarian, S, Blomkwist-Markens, P H, Cornblath, D R, Eftimov, F, Goedee, H S, Harbo, T, Kuwabara, S, Lewis, R A, Lunn, M P, Nobile-Orazio, E, Querol, L, Rajabally, Y A, Sommer, C & Topaloglu, H A 2021, ' European Academy of Neurology/Peripheral Nerve Society guideline on diagnosis and treatment of chronic inflammatory demyelinating polyradiculoneuropathy : Report of a joint Task Force—Second revision ', European Journal of Neurology, vol. 28, no. 11, pp. 3556-3583 . https://doi.org/10.1111/ene.14959Test
European journal of neurology, 28(11), 3556-3583. Wiley-Blackwell
JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
Journal of the Peripheral Nervous System, 26(3), 242-268. Wiley-Blackwell Publishing Ltd
EUROPEAN JOURNAL OF NEUROLOGY
Journal of the peripheral nervous system, 26(3), 242-268. Wiley-Blackwell
European Journal of Neurology, 28(11), 3556-3583. Wiley-Blackwell Publishing Ltdمصطلحات موضوعية: medicine.medical_specialty, Pediatrics, Neurology, diagnosis, Population, Disease, CIDP, Peripheral nerve, Adrenal Cortex Hormones, medicine, Humans, Peripheral Nerves, education, education.field_of_study, Plasma Exchange, treatment, Maintenance dose, business.industry, General Neuroscience, Immunoglobulins, Intravenous, Polyradiculoneuropathy, Guideline, medicine.disease, GRADE, Polyradiculoneuropathy, Chronic Inflammatory Demyelinating, Neuropathic pain, Neurology (clinical), business, guideline
الوصف: Objective: To revise the 2010 consensus guideline on chronic inflammatory demyelinating polyradiculoneuropathy (CIDP). Methods: Seventeen disease experts, a patient representative, and two Cochrane methodologists constructed 12 Population/Intervention/Comparison/Outcome (PICO) questions regarding diagnosis and treatment to guide the literature search. Data were extracted and summarized in GRADE summary of findings (for treatment PICOs) or evidence tables (for diagnostic PICOs). Results: Statements were prepared according to the GRADE Evidence-to-Decision frameworks. Typical CIDP and CIDP variants were distinguished. The previous term “atypical CIDP” was replaced by “CIDP variants” because these are well characterized entities (multifocal, focal, distal, motor, or sensory CIDP). The levels of diagnostic certainty were reduced from three (definite, probable, possible CIDP) to only two (CIDP and possible CIDP), because the diagnostic accuracy of criteria for probable and definite CIDP did not significantly differ. Good Practice Points were formulated for supportive criteria and investigations to be considered to diagnose CIDP. The principal treatment recommendations were: (a) intravenous immunoglobulin (IVIg) or corticosteroids are strongly recommended as initial treatment in typical CIDP and CIDP variants; (b) plasma exchange is strongly recommended if IVIg and corticosteroids are ineffective; (c) IVIg should be considered as first-line treatment in motor CIDP (Good Practice Point); (d) for maintenance treatment, IVIg, subcutaneous immunoglobulin or corticosteroids are recommended; (e) if the maintenance dose of any of these is high, consider either combination treatments or adding an immunosuppressant or immunomodulatory drug (Good Practice Point); and (f) if pain is present, consider drugs against neuropathic pain and multidisciplinary management (Good Practice Point).
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4ac7b3a05ac0fa19b7a372fc0e1e85c8Test
https://hdl.handle.net/2078.1/264369Test -
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المؤلفون: Ana Topf, Irina Zaharieva, Valeria Di Leo, Anna Vihola, Neha Wali, Marco Savarese, Kristen Laricchia, Cristina Venturini, Bas Vroling, Beryl Cummings, Rita Barresi, Elizabeth Harris, Chiara Marini Bettolo, Dan Cox, Jennifer Duff, Eleina England, Jane Patrick, Valerie Biancalana, Shobhana Bommireddipalli, Carsten Bonnemann, Anita Cairns, Mei Chiew, Kristl G. Claeys, Sandra Cooper, Mark R. Davis, Sandra Donkervoort, Corrie E. Erasmus, Carla Grosmann, Heinz Jungbluth, Erik-Jan Kamsteeg, Xaviere Lornage, Wolfgang Löscher, Edoardo Malfatti, Adnan Manzur, Pilar Marti, Tiziana Mongini, Nuria Muelas, Atsuko Nishikawa, Narumi Ogonuki, Gina O'Grady, Stephanie Paquay, Rahul Phadke, Beth Pletcher, Norma Romero, Meyke Schouten, Snehal Shah, Yves Sznajer, Giorgio Tasca, Allysa Tuite, Peter van den Bergh, Nicol Voermans, Julia Wanschitz, Elizabeth Wraige, Kimihiko Yoshimura, Emily Oates, Osamu Nakagawa, Ichizo Nishino, Jocelyn Laporte, Juan Vilchez, Daniel Macarthur, Anna Sarkozy, Bjarne Udd, Elisabeth Busch-Nentwich, Francesco Muntoni, Volker Straub
المصدر: SSRN Electronic Journal.
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::a4990ec6615d442d2ddd8f92c67016bdTest
https://doi.org/10.2139/ssrn.3801723Test