Search

Your search keyword '"Vanessa Remy-Piccolo"' showing total 6 results
Start Over Author "Vanessa Remy-Piccolo"
6 results on '"Vanessa Remy-Piccolo"'

1. Mevalonate Kinase Deficiency: A Cause of Severe Very-Early-Onset Inflammatory Bowel Disease

Author

Albert Faye, Vanessa Remy-Piccolo, Alexandre Belot, Isabelle Melki, Fabienne Charbit-Henrion, Sophie Georgin-Lavialle, Dominique Berrebi, Pierre Quartier, Nadine Cerf Bensussan, Florence Uettwiller, Frank M. Ruemmele, Laurence Cuisset, Andreia Luís Martins, Brigitte Bader-Meunier, Ulrich Meinzer, and Jérôme Viala

Subjects
medicine.medical_specialty, Mevalonate kinase deficiency, business.industry, Gastroenterology, medicine.disease, Peritoneal adhesions, Inflammatory bowel disease, Very early onset, digestive system diseases, Mevalonic aciduria, Internal medicine, Immunology and Allergy, Medicine, In patient, business
Abstract

Mevalonate kinase deficiency should be considered in patients with severe very-early-onset inflammatory bowel disease (IBD), especially in patients with a history of recurrent or chronic fever, peritoneal adhesions, and atypical IBD pathology. Anti-interleukin-1 therapy may be efficacious in these patients with monogenic very-early-onset IBD.

Published
2021
Full Text
View/download PDF

3. Familial Mediterranean fever mutations are hypermorphic mutations that specifically decrease the activation threshold of the Pyrin inflammasome

Author

Véronique Hentgen, Flora Magnotti, Agnès Duquesne, Thomas Henry, Bénédicte F. Py, Marine Desjonquères, Mathilde Penel-Page, Yvan Jamilloux, Mathieu Gerfaud-Valentin, Pascal Sève, Alexandre Belot, Luca Cantarini, Vanessa Remy-Piccolo, Amandine Martin, Rolando Cimaz, Thierry Walzer, Lucie Lefeuvre, Audrey Laurent, Emilie Bourdonnay, Omran Allatif, Sarah Benezech, Inflammasome, Infections bactériennes et autoinflammation, Inflammasome, Bacterial Infections and Autoinflammation (I2BA), Centre International de Recherche en Infectiologie - UMR (CIRI), Institut National de la Santé et de la Recherche Médicale (INSERM)-École normale supérieure - Lyon (ENS Lyon)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-École normale supérieure - Lyon (ENS Lyon)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Centre National de la Recherche Scientifique (CNRS), Service de Médecine Interne [Hôpital Croix Rousse, CHU Lyon], CHU Lyon-Hôpital de la Croix-Rousse [CHU - HCL], Hospices Civils de Lyon (HCL)-Hospices Civils de Lyon (HCL), Hospices Civils de Lyon (HCL), AOU Meyer, Interdepartmental Research Center of Systemic Autoimmune and Autoinflammatory Diseases, Policlinico Le Scotte, Réponse immunitaire innée dans les maladies infectieuses et auto-immunes – Innate immunity in infectious and autoimmune diseases, BioInformatique et BioStatistiques (BIBS), Hôpital Femme Mère Enfant [CHU - HCL] (HFME), Centre de Référence des Maladies AutoInflammatoires (CeRéMAI), Centre Hospitalier de Versailles André Mignot (CHV), L'Hôpital Nord-Ouest [Villefranche sur Saône], Inflammasome NLRP3 – NLRP3 Inflammasome, Centre International de Recherche en Infectiologie (CIRI), École normale supérieure de Lyon (ENS de Lyon)-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)-École normale supérieure de Lyon (ENS de Lyon)-Université Claude Bernard Lyon 1 (UCBL), and 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)

Subjects
Male, Salmonella typhimurium, rho GTP-Binding Proteins, 0301 basic medicine, Inflammasomes, Autoinflammation, Familial mediterranean fever, IL-18, IL-1β, Inflammasome, MEFV, NLRC4, NLRP3, Pyrin, Adenosine Triphosphate, Adolescent, Adult, Antigens, Bacterial, Bacterial Proteins, Bacterial Toxins, CARD Signaling Adaptor Proteins, Calcium-Binding Proteins, Case-Control Studies, Cell Death, Child, Child, Preschool, Familial Mediterranean Fever, Female, Healthy Volunteers, Humans, Interleukin-18, Interleukin-1beta, Ionophores, Middle Aged, Monocytes, Mutation, NLR Family, Pyrin Domain-Containing 3 Protein, Nigericin, Rheumatology, Pharmacology (medical), Familial Mediterranean fever, Pyrin domain, Exon, 0302 clinical medicine, ComputingMilieux_MISCELLANEOUS, Bacterial, [SDV.MP.VIR]Life Sciences [q-bio]/Microbiology and Parasitology/Virology, [SDV.IMM]Life Sciences [q-bio]/Immunology, Interleukin 18, medicine.drug, Clostridium difficile toxin B, NLR Family, 03 medical and health sciences, medicine, Antigens, Preschool, 030203 arthritis & rheumatology, business.industry, medicine.disease, Pyrin Domain-Containing 3 Protein, [SDV.MP.BAC]Life Sciences [q-bio]/Microbiology and Parasitology/Bacteriology, 030104 developmental biology, Immunology, business
Abstract

Objectives FMF is the most frequent autoinflammatory disease and is associated in most patients with bi-allelic MEFV mutations. MEFV encodes Pyrin, an inflammasome sensor activated following RhoGTPase inhibition. The functional consequences of MEFV mutations on the ability of Pyrin variants to act as inflammasome sensors are largely unknown. The aim of this study was to assess whether MEFV mutations affect the ability of Pyrin to detect RhoGTPase inhibition and other inflammasome stimuli. Methods IL-1β and IL-18 released by monocytes from healthy donors (HDs) and FMF patients were measured upon specific engagement of the Pyrin, NLRP3 and NLRC4 inflammasomes. Cell death kinetics following Pyrin activation was monitored in real time. Results Monocytes from FMF patients secreted significantly more IL-1β and IL-18 and died significantly faster than HD monocytes in response to low concentrations of Clostridium difficile toxin B (TcdB), a Pyrin-activating stimulus. Monocytes from patients bearing two MEFV exon 10 pathogenic variants displayed an increased Pyrin inflammasome response compared with monocytes from patients with a single exon 10 pathogenic variant indicating a gene-dosage effect. Using a short priming step, the response of monocytes from FMF patients to NLRP3- and NLRC4-activating stimuli was normal indicating that MEFV mutations trigger a specific hypersensitivity of monocytes to low doses of a Pyrin-engaging stimulus. Conclusion Contrary to the NLRP3 mutations described in cryopyrin-associated periodic syndrome, FMF-associated MEFV mutations do not lead to a constitutive activation of Pyrin. Rather, FMF-associated mutations are hypermorphic mutations that specifically decrease the activation threshold of the Pyrin inflammasome without affecting other canonical inflammasomes.

Published
2017
Full Text
View/download PDF

5. Juvenile overlap myositis: retrospective study about 20 cases

Author

Vanessa Remy Piccolo, Brigitte Bader-Meunier, Sylvain Breton, M. Ferneiny, Cyril Gitiaux, Christine Bodemer, Pierre Quartier, and Karen Lambot

Subjects
medicine.medical_specialty, Pathology, business.industry, Retrospective cohort study, medicine.disease, Dermatology, Rheumatology, Internal medicine, Pediatrics, Perinatology and Child Health, Poster Presentation, medicine, Juvenile, Immunology and Allergy, Pediatrics, Perinatology, and Child Health, business, Myositis
Abstract

Inflammatory myopathies during childhood are clinically, biologically and pathologically heterogeneous.

Full Text
View/download PDF

6. Share – Workpackage 5: evidence based recommendations for diagnosis and treatment of juvenile idiopathic arthritis

Author

C Wouters, Nico M Wulffraat, Bo Magnussen, R Russo, Jordi Anton, Pierre Quartier, Nicola Ruperto, Kirsten Minden, Ingrida Rumbla, Gerd Horneff, Vanessa Remy Piccolo, Victor Boom, Alberto Martini, Sebastiaan J. Vastert, Pavla Dolezalova, Sefi Uziel, Angelo Ravelli, Pekka Lahdenne, Helen E. Foster, Tamas Constantin, and Kiran Nistala

Subjects
Biological therapies, medicine.medical_specialty, Pediatrics, Evidence-based practice, business.industry, Treatment regimen, Alternative medicine, Arthritis, medicine.disease, Rheumatology, Internal medicine, Pediatrics, Perinatology and Child Health, Poster Presentation, Medicine, Juvenile, Immunology and Allergy, Pediatrics, Perinatology, and Child Health, Young adult, business, Intensive care medicine
Abstract

Juvenile Idiopathic Arthritis (JIA) is one of the most common chronic pediatric rheumatic diseases (PRD). As is the case for most PRD's, evidence-based guidelines are sparse and management is based to great extent on physician’s experience. Moreover, there are differences between nations regarding availability and financing of biological therapies. Consequently, treatment regimens differ throughout Europe. In 2012, a European initiative called SHARE (Single Hub and Access point for pediatric Rheumatology in Europe) was launched to optimize and disseminate diagnostic and management regimens in Europe for children and young adults with rheumatic diseases.

Full Text
View/download PDF

Catalog

Books, media, physical & digital resources
See catalog results