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Your search keyword '"Laforet, Pascal"' showing total 7 results
Start Over Author "Laforet, Pascal" Publisher lippincott williams & wilkins
7 results on '"Laforet, Pascal"'

1. Identifying Digital Biomarkers for the Self-Monitoring of Patients Living with Generalized Myasthenia gravis: a Proof of Concept (P7-8.007)

Author

Laforet, Pascal, primary, Orlikowski, David, additional, Nicolas, Guillaume, additional, Prigent, Hélène, additional, Berling, Edouard, additional, N’Dah-Sekou, Ghislain, additional, Gorin, Clarissa, additional, Moreira, Ana Júlia, additional, Narcy, Juliette, additional, Plaud, Angéline, additional, Cuq, Emma Touré, additional, Keller, Martin, additional, Werneburg, Brian, additional, Aras, Emrah, additional, and Benatar, Michael, additional

Published
2023
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3. Anti-HMGCR Autoantibodies in European Patients With Autoimmune Necrotizing Myopathies

Author

Allenbach, Yves, Drouot, Laurent, Rigolet, Aude, Charuel, Jean Luc, Jouen, Fabienne, Romero, Norma B., Maisonobe, Thierry, Dubourg, Odile, Behin, Anthony, Laforet, Pascal, Stojkovic, Tania, Eymard, Bruno, Costedoat-Chalumeau, Nathalie, Campana-Salort, Emmanuelle, Tournadre, Anne, Musset, Lucile, Bader-Meunier, Brigitte, Kone-Paut, Isabelle, Sibilia, Jean, Servais, Laurent, Fain, Olivier, Larroche, Claire, Diot, Elisabeth, Terrier, Benjamin, De Paz, Raphael, Dossier, Antoine, Menard, Dominique, Morati, Chafika, Roux, Marielle, Ferrer, Xavier, Martinet, Jeremie, Besnard, Sophie, Bellance, Remi, Cacoub, Patrice, Arnaud, Laurent, Grosbois, Bernard, Herson, Serge, Boyer, Olivier, and Benveniste, Olivier

Subjects
Adult, Male, Muscular Diseases, Humans, Original Study, Female, Hydroxymethylglutaryl CoA Reductases, Hydroxymethylglutaryl-CoA Reductase Inhibitors, Middle Aged, Creatine Kinase, White People, Autoantibodies, Autoimmune Diseases
Abstract

Necrotizing autoimmune myopathy (NAM) is a group of acquired myopathies characterized by prominent myofiber necrosis with little or no muscle inflammation. Recently, researchers identified autoantibodies (aAb) against 3-hydroxy-3-methylglutaryl-coenzyme A reductase (HMGCR) in patients with NAM, especially in statin-exposed patients. Here we report what is to our knowledge the first European cohort of patients with NAM. The serum of 206 patients with suspicion of NAM was tested for detection of anti-HMGCR aAb using an addressable laser bead immunoassay. Forty-five patients were found to be anti-HMGCR positive. Their mean age was 48.9 ± 21.9 years and the group was predominantly female (73.3%). Statin exposure was recorded in 44.4% of patients. Almost all patients had a muscular deficit (97.7%), frequently severe (Medical Research Council [MRC] 5 ≤3 in 75.5%). Subacute onset (

Published
2014

7. FSHD1 and FSHD2 form a disease continuum.

Author

Sacconi S, Briand-Suleau A, Gros M, Baudoin C, Lemmers RJLF, Rondeau S, Lagha N, Nigumann P, Cambieri C, Puma A, Chapon F, Stojkovic T, Vial C, Bouhour F, Cao M, Pegoraro E, Petiot P, Behin A, Marc B, Eymard B, Echaniz-Laguna A, Laforet P, Salviati L, Jeanpierre M, Cristofari G, and van der Maarel SM

Subjects
Adult, Alleles, Chromosomal Proteins, Non-Histone genetics, Female, Haplotypes, Humans, Male, Middle Aged, Muscular Dystrophy, Facioscapulohumeral genetics, Muscular Dystrophy, Facioscapulohumeral physiopathology, Phenotype, Severity of Illness Index, DNA Methylation, Muscle Strength physiology, Muscular Dystrophy, Facioscapulohumeral diagnosis, Mutation
Abstract

Objective: To compare the clinical features of patients showing a classical phenotype of facioscapulohumeral muscular dystrophy (FSHD) with genetic and epigenetic characteristics of the FSHD1 and FSHD2 loci D4Z4 and SMCHD1 ., Methods: This is a national multicenter cohort study. We measured motor strength, motor function, and disease severity by manual muscle testing sumscore, Brooke and Vignos scores, clinical severity score (CSS), and age-corrected CSS, respectively. We correlated these scores with genetic (D4Z4 repeat size and haplotype; SMCHD1 variant status) and epigenetic (D4Z4 methylation) parameters., Results: We included 103 patients: 54 men and 49 women. Among them, we identified 64 patients with FSHD1 and 20 patients with FSHD2. Seven patients had genetic and epigenetic characteristics of FSHD1 and FSHD2, all carrying repeats of 9-10 D4Z4 repeat units (RU) and a pathogenic SMCHD1 variant. In the remaining patients, FSHD was genetically excluded or remained unconfirmed. All clinically affected SMCHD1 mutation carriers had a D4Z4 repeat of 9-16 RU on a disease permissive 4qA haplotype. These patients are significantly more severely affected by all clinical scales when compared to patients with FSHD1 with upper-sized FSHD1 alleles (8-10 RU)., Conclusion: The overlap between FSHD1 and FSHD2 patients in the 9-10 D4Z4 RU range suggests that FSHD1 and FSHD2 form a disease continuum. The previously established repeat size threshold for FSHD1 (1-10 RU) and FSHD2 (11-20 RU) needs to be reconsidered., Clinicaltrialsgov Identifier: NCT01970735., (© 2019 American Academy of Neurology.)

Published
2019
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