21 results on '"R. Jaussaud"'
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2. Efficacité et tolérance du bérotralstat dans la prévention des crises récurrentes d’angiœdème héréditaire : analyse intermédiaire de l’étude observationnelle en vie réelle « BEROLIFE »
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D. Gobert, D. Launay, I. Boccon-Gibod, C. De Moreuil, M. Bourgoin-Heck, M. Aubineau, S. Debord-Peguet, P.Y. Jeandel, R. Jaussaud, A. Du-Thanh, G. Armengol, C. Hoarau, Y. Ollivier, F. Pontille, S. Guez, M. Villedieu, J.C. Crave, O. Fain, and L. Bouillet more...
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Gastroenterology ,Internal Medicine - Published
- 2022
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3. Uvéites chez les patients vivant avec le VIH : une étude rétrospective multicentrique
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M. Razafinimanana, L. Benjamin, D. Saadoun, B. Bodaghi, A. Toutée, E. Caumes, C. Katlama, V. Pourcher, P. Sève, L. Cotte, L. Kodjikian, Y. Serrar, H. Devilliers, P. Bielefeld, S. Mouries-Martin, R. Jaussaud, K. Angioi-Duprez, and T. Moulinet more...
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Gastroenterology ,Internal Medicine - Published
- 2022
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4. POS0711 TOLERANCE AND EFFICACY OF TARGETED THERAPIES PRESCRIBED FOR OFF-LABEL INDICATIONS IN REFRACTORY SYSTEMIC AUTOIMMUNE DISEASES: DATA OF THE FIRST 100 PATIENTS ENROLLED IN THE TATA REGISTRY (TARGETED THERAPY IN AUTOIMMUNE DISEASES)
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J. E. Gottenberg, A. Chaudier, Y. Allenbach, A. Mekinian, Z. Amoura, P. Cacoub, D. Cornec, E. Hachulla, P. Quartier, I. Melki, C. Richez, R. Seror, B. Terrier, V. Devauchelle-Pensec, J. Henry, M. Gatfosse, L. Bouillet, E. Gaigneux, V. Andre, G. Baulier, A. Saunier, M. Desmurs, A. Poulet, M. Ete, M. E. Truchetet, M. Michaud, C. Larroche, A. Dellal, A. Leurs, S. Ottaviani, H. Nielly, G. Vial, R. Jaussaud, B. Rouviere, P. Y. Jeandel, A. Guffroy, A. S. Korganow, M. Jouvray, A. Meyer, E. Chatelus, C. Sordet, R. Felten, J. Sibilia, S. Ahmed Yahia, J. F. Kleinmann, and X. Mariette more...
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Rheumatology ,Immunology ,Immunology and Allergy ,General Biochemistry, Genetics and Molecular Biology - Abstract
BackgroundThe low prevalence of systemic autoimmune diseases and the diversity of their clinical manifestations make complex to conduct randomised clinical trials to assess the potential efficacy of targeted treatments.ObjectivesTo assess the tolerance and efficacy of targeted therapies prescribed off-label in refractory autoimmune diseases.MethodsThe TATA registry (TArgeted Therapy in Autoimmune Diseases) is a prospective, observational, national and independent cohort follow-up. The inclusion criteria in the registry are as follows: age > 18 years; rare systemic autoimmune disease (systemic lupus erythematosus, Sjögren’s syndrome, systemic scleroderma, inflammatory myopathy, vasculitis) or other refractory rheumatism treated with off-label drugs started after 1st January 2019.ResultsHundred (100) patients (79 females) were enrolled. The median age was 52.5 years [49;56], the median disease duration before enrolment was 5 years [3;7]. The targeted therapies at enrolment were as follows: JAK/STAT inhibitors (44%), anti-IL6R (22%), anti-IL12/23, anti-IL23 and anti-IL17 (9%), anti-BAFF (5%), abatacept (5%), other targeted treatments (9%), and combination of targeted treatments (6%). 73% of patients were receiving corticosteroid therapy at enrolment (median dose 10 mg/day). The current median follow-up time is 9 months [8;10].Safety: 11 serious infections (incidence rate of 14.8 /100 patient-years) and 1 cancer (1.3 cancers/100 patient-years) were observed. Two patients died from severe COVID-19 (2.7 deaths/100 patient-years).Efficacy: The targeted treatment was considered effective by the clinician in 56% of patients and allowed in responders a median reduction of oral corticosteroids of 15 [9-21] mg/day.ConclusionThese initial results of the TATA registry confirm the diversity of targeted treatments prescribed off-label in refractory autoimmune diseases and their corticosteroid-sparing effect when effective. Tolerance was acceptable in these refractory patients with a long history of treatment with immunosuppressive drugs.References[1]B. Terrier et al., Safety and efficacy of rituximab in systemic lupus erythematosus: results from 136 patients from the French AutoImmunity and Rituximab registry. Arthritis Rheum 62, 2458-2466 (2010).[2]J. E. Gottenberg et al., Efficacy of rituximab in systemic manifestations of primary Sjogren’s syndrome: results in 78 patients of the AutoImmune and Rituximab registry. Ann Rheum Dis 72, 1026-1031 (2013).[3]J. E. Gottenberg et al., Risk factors for severe infections in patients with rheumatoid arthritis treated with rituximab in the autoimmunity and rituximab registry. Arthritis Rheum 62, 2625-2632 (2010).[4]F. R. S. S. S. C. I. consortium, contributors, Severity of COVID-19 and survival in patients with rheumatic and inflammatory diseases: data from the French RMD COVID-19 cohort of 694 patients. Ann Rheum Dis, (2020).[5]R. Felten et al., B-cell targeted therapy is associated with severe COVID-19 among patients with inflammatory arthritides: a 1-year multicentre study in 1116 successive patients receiving intravenous biologics. Ann Rheum Dis 81, 143-145 (2022).[6]D. J. Wallace et al., Baricitinib for systemic lupus erythematosus: a double-blind, randomised, placebo-controlled, phase 2 trial. Lancet 392, 222-231 (2018).[7]J. J. Paik et al., Study of Tofacitinib in Refractory Dermatomyositis: An Open-Label Pilot Study of Ten Patients. Arthritis Rheumatol 73, 858-865 (2021).[8]S. Cole et al., Integrative analysis reveals CD38 as a therapeutic target for plasma cell-rich pre-disease and established rheumatoid arthritis and systemic lupus erythematosus. Arthritis Res Ther 20, 85 (2018).[9]S. J. Bowman et al., Safety and efficacy of subcutaneous ianalumab (VAY736) in patients with primary Sjogren’s syndrome: a randomised, double-blind, placebo-controlled, phase 2b dose-finding trial. Lancet 399, 161-171 (2022).AcknowledgementsFrench networks (FAI2R, CRI, IMIDIATE, SFR, SNFMI) focused on rare systemic autoimmune diseases contributed this work by the contribution of network-affiliated physicians.Disclosure of InterestsJacques-Eric Gottenberg Consultant of: Abbvie, BMS, Gilead, Galapagos, Novartis, Lilly Roche Chugai, Sanofi, Janssen, Pfizer, Grant/research support from: BMS.Lilly and Pfizer for this register (with no access to data)., Aurore Chaudier: None declared, Yves Allenbach: None declared, Arsene Mekinian: None declared, Zahir Amoura: None declared, Patrice cacoub: None declared, Divi Cornec: None declared, Eric Hachulla: None declared, Pierre Quartier: None declared, isabelle melki: None declared, Christophe Richez: None declared, Raphaèle Seror: None declared, Benjamin Terrier: None declared, Valerie Devauchelle-Pensec: None declared, Julien Henry: None declared, MARC GATFOSSE: None declared, LAURENCE BOUILLET: None declared, Emeline GAIGNEUX: None declared, Vincent ANDRE: None declared, Gildas BAULIER: None declared, Aurélie SAUNIER: None declared, Marie Desmurs: None declared, Antoine POULET: None declared, Mathieu ETE: None declared, Marie-Elise Truchetet: None declared, Martin Michaud: None declared, Claire Larroche: None declared, AZEDDINE DELLAL: None declared, Amelie LEURS: None declared, Sebastien Ottaviani: None declared, Hubert NIELLY: None declared, Guillaume VIAL: None declared, Roland JAUSSAUD: None declared, Benedicte ROUVIERE: None declared, Pierre-Yves JEANDEL: None declared, Aurelien GUFFROY: None declared, Anne-Sophie Korganow: None declared, Mathieu JOUVRAY: None declared, alain meyer: None declared, Emmanuel Chatelus: None declared, Christelle Sordet: None declared, Renaud FELTEN: None declared, Jean Sibilia: None declared, Samira AHMED YAHIA: None declared, Jean François Kleinmann: None declared, Xavier Mariette Consultant of: BMS, Galapagos, GSK, Janssen, Novartis, Pfizer, Sanofi, UCB more...
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- 2022
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5. Characteristics and outcomes associated with CD2 and CD25 expression on bone marrow mast cells in patients with systemic mastocytosis.
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Rossignol J, Georgin-Lavialle S, Canioni D, Beganovic O, Brouzes C, Fain O, Heiblig M, Gourguechon C, Guilpain P, Bulai-Livideanu C, Barete S, Agopian J, Brenet F, Dubreuil P, Lemal R, Tournilhac O, Terriou L, Launay D, Bouillet L, Chatain C, Damaj G, Ballul T, Greco C, Polivka L, Frenzel L, Meni C, Bouktit H, Benabou D, Devin C, Gaudy-Marqueste C, Gousseff M, Le Mouel E, Neel A, Ranta D, Jaussaud R, Jo Molina T, Bruneau J, Javier RM, Pelletier F, Castelain F, Retornaz F, Cabrera Q, Zunic P, Gourin MP, Wierzbicka-Hainaut E, Viallard JF, Lavigne C, Hoarau C, Durieu I, Dimicoli-Salazar S, Torregrosa-Diaz JM, Duval A, Garcelon N, Lespinasse J, Soria A, Chantran Y, Arock M, Bodemer C, Lortholary O, Asnafi V, Hermine O, and Lhermitte L more...
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- 2025
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6. Comparison of prognostic scores according to WHO classification in 170 patients with advanced mastocytosis and C-finding treated with midostaurin.
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Heiblig M, Gourguechon C, Guilpain P, Bulai-Livideanu C, Barete S, Chantran Y, Agopian J, Brenet F, Dubreuil P, Lespinasse J, Lemal R, Tournilhac O, Terriou L, Launay D, Bouillet L, Chatain C, Damaj G, Ballul T, Greco C, Polivka L, Frenzel L, Meni C, Bouktit H, Benabou D, Gaudy-Marqueste C, Gousseff M, Le Mouel E, Neel A, Ranta D, Jaussaud R, Molina TJ, Bruneau J, Villarese P, Lhermitte L, Maouche-Chrétien L, Temple M, Kosmider O, Javier RM, Pelletier F, Castelain F, Retornaz F, Cabrera Q, Zunic P, Gourin MP, Wierzbicka-Hainaut E, Viallard JF, Lavigne C, Hoarau C, Durieu I, Dimicoli-Salazar S, Torregrosa-Diaz JM, Wemeau M, Soria A, Arock M, Bodemer C, Lortholary O, Hermine O, and Rossignol J more...
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- Humans, Male, Female, Middle Aged, Aged, Retrospective Studies, Prognosis, Adult, World Health Organization, Aged, 80 and over, Protein Kinase Inhibitors therapeutic use, Leukemia, Mast-Cell drug therapy, Hematologic Neoplasms drug therapy, Hematologic Neoplasms mortality, Staurosporine analogs & derivatives, Staurosporine therapeutic use, Mastocytosis, Systemic drug therapy, Mastocytosis, Systemic mortality, Mastocytosis, Systemic classification, Mastocytosis, Systemic diagnosis
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Advanced systemic mastocytosis (AdvSM) encompasses heterogeneous mastocytosis subtypes and is associated with poor outcomes. Although midostaurin was the first tyrosine kinase inhibitor to be approved for AdvSM patients, long-lasting responses are limited. The mutation-Adjusted Risk Score (MARS), the International Prognostic Scoring System for mastocytosis (IPSM) and the Global Prognostic Score for Systemic Mastocytosis (GPSM) have been established to characterize the outcomes of patients with overall AdvSM. However, given the outcome's dependency on the AdvSM subtype, prognostic characterization within each subtype is critical. We aimed to study the predictive ability using Harrell's concordance index of prognostic scores according to the AdvSM subtype. We conducted a nationwide retrospective study using the French mastocytosis reference center's registry and included all midostaurin-treated patients with C finding. Overall, 170 patients were identified: 46 aggressive SM (ASM), 11 mast cell leukemia (MCL), and 113 SM with associated hematological neoplasm (SM-AHN). All risk scores improved their discriminative value for overall survival (OS) when combined with the AdvSM subtype. The best predictive value was for adjusted MARS (C-index = 0.689), followed by GPSM (C-index = 0.677) and IPSM (C-index = 0.618). In a multivariable analysis, MARS stratification and the AdvSM subtype were both prognostic for OS. Accordingly, five subgroups of patients with AdvSM and a different median OS were identified: 9.9 months for MCL, 24 months for intermediate/high-risk SM-AHN, 33 months for intermediate/high-risk ASM, 58 months for low-risk SM-AHN and was not reached for low-risk ASM (p < 0.001). The AdvSM subtype and the MARS are the most predictive of OS and should prompt specific management., (© 2024 The Author(s). American Journal of Hematology published by Wiley Periodicals LLC.) more...
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- 2024
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7. Long-term outcomes of childhood-onset systemic lupus erythematosus.
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Mirguet A, Aeschlimann FA, Lemelle I, Jaussaud R, Decker P, Moulinet T, Mohamed S, Quartier P, Hofer M, Boyer O, Belot A, Hummel A, Costedoat-Chalumeau N, and Bader-Meunier B
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Objective: Data on the long-term outcome of patients with childhood-onset Systemic Lupus Erythematosus (cSLE) are scarce. Aims of this study were to describe the long-term outcomes of cSLE and to identify factors associated with the development of damage and persistent disease activity., Methods: We conducted a retrospective multicentre study using data from the PEDIALUP registry of the Juvenile Inflammatory Rheumatism (JIR) cohort database. Demographic characteristics, clinical manifestations, laboratory, radiological, histological and treatment data were collected from medical records during follow-up., Results: A total of 138 patients with cSLE, diagnosed between 1971 and 2015, were included. With a median follow-up of 15.4 [9.6-22.4] years, 51% of patients had a SLICC-Damage Index score ≥ 1 at last follow-up with the musculoskeletal, cutaneous, renal, neurological, and cardiovascular damage being the most common manifestations. The proportion of patients with a SLICC-DI score ≥ 1 increased significantly with the duration of the follow-up (p< 0.001). On multivariate analysis, duration of follow-up was associated with increased risk of cumulative damage (OR 1.08, 95% CI 1.01, 1.15, p= 0.035). At the last visit, 34% of patients still had active disease with a SLEDAI score of ≥ 6. On multivariate analysis, Sub-Saharan African ethnicity was associated with 7-fold increased odds of having active disease at the last visit compared with Caucasians (OR 7.44, 95% CI 2.24, 24.74, p= 0.0002)., Conclusion: The prevalence of damage remains high in patients with cSLE even when the diagnosis of c-SLE has been made in the recent decades., (© The Author(s) 2024. Published by Oxford University Press on behalf of the British Society for Rheumatology. All rights reserved. For permissions, please email: journals.permissions@oup.com.) more...
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- 2024
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8. Suboptimal Response to Biologics in Severe Asthma-A Marker of Humoral Immunodeficiencies.
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Tiotiu A, De Meulder B, Vaillant P, Mouton-Faivre C, and Jaussaud R
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- Humans, Male, Female, Middle Aged, Adult, Case-Control Studies, Immunologic Deficiency Syndromes drug therapy, Immunologic Deficiency Syndromes diagnosis, Hospitalization statistics & numerical data, Severity of Illness Index, Treatment Outcome, Aged, Anti-Asthmatic Agents therapeutic use, Adrenal Cortex Hormones therapeutic use, Asthma drug therapy, Biological Products therapeutic use
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Background: Asthmatic patients with antibody deficiencies (AD) have more severe disease and higher risk of exacerbations. No data exist about the efficacy of biologics in severe asthma (SA) patients with AD., Objective: To evaluate the efficacy of biologics in SA patients with and without AD., Methods: A case-control real-life study was conducted including 68 patients divided into 2 groups: group 1 with SA-AD and group 2 with SA., Results: Treatment with biologics for 6 months was effective for decreasing the number of exacerbations, hospitalizations, and emergency department (ED) visits and improving the Asthma Control Questionnaire (ACQ) score; biologics also proved a systemic corticosteroid-sparing effect. Despite benefits, the number of exacerbations, hospitalizations, and ED visits, the mean ACQ score, and the cumulative dose of systemic corticosteroids remain higher in group 1 than in group 2, with lower lung function parameters. The rates of responses in group 1 were inferior to those in group 2, with a decrease by ≥50% of exacerbation rate in 76% versus 97% of patients (P = .006), no hospitalization in 44% versus 91% of patients (P < .001), no ED visit in 56% versus 82% of patients (P = .018), a significant improvement of the ACQ score by ≥0.5 in 68% versus 100% of patients (P < .001), and an increase of forced expiratory volume in the first second by >10% in 32% versus 65% of patients (P = .007)., Conclusions: Despite evident benefits, SA patients with AD have suboptimal responses to biologics compared with those immunocompetent. A multidisciplinary approach is necessary to optimize the management of these patients in practice., (Copyright © 2024 American Academy of Allergy, Asthma & Immunology. Published by Elsevier Inc. All rights reserved.) more...
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- 2024
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9. Histological characterization of liver involvement in systemic mastocytosis.
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Rossignol J, Canioni D, Aouba A, Bulai-Livideanu C, Barete S, Lancesseur C, Polivka L, Madrange M, Ballul T, Neuraz A, Greco C, Agopian J, Brenet F, Dubreuil P, Lemal R, Tournilhac O, Terriou L, Launay D, Bouillet L, Gourguechon C, Frenzel L, Meni C, Gaudy-Marqueste C, Gousseff M, Le Mouel E, Hamidou M, Neel A, Ranta D, Jaussaud R, Guilpain P, Molina TJ, Bruneau J, Lhermitte L, Garcelon N, Javier RM, Pelletier F, Castelain F, Retornaz F, Cabrera Q, Zunic P, Gourin MP, Wierzbicka-Hainaut E, Viallard JF, Lavigne C, Hoarau C, Durieu I, Heiblig M, Dimicoli-Salazar S, Torregrosa-Diaz JM, Soria A, Arock M, Lortholary O, Bodemer C, Pol S, Mallet V, Hermine O, and Damaj G more...
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- Humans, Retrospective Studies, Female, Male, Middle Aged, Adult, Biopsy, Aged, Hypertension, Portal pathology, Hypertension, Portal etiology, France, Liver Cirrhosis pathology, Mast Cells pathology, Alkaline Phosphatase blood, Prognosis, Mastocytosis, Systemic pathology, Mastocytosis, Systemic complications, Liver pathology, Hepatomegaly pathology, Hepatomegaly etiology
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Background and Aims: Systemic mastocytosis (SM) is characterized by the accumulation of atypical mast cells (MCs) in organs. Liver histology of SM has been marginally described and accurate histological classification is critical, given the consequences of aggressive SM diagnosis. We aimed to describe the histological features associated with liver SM using updated tools., Methods: Using the database of the French Reference Centre for Mastocytosis, we retrospectively identified patients with a liver biopsy (LB) and a diagnosis of SM. All LB procedures were performed according to the local physician in charge and centrally reviewed by an expert pathologist., Results: A total of 28 patients were included: 6 had indolent SM, 9 had aggressive SM, and 13 had SM with an associated hematologic neoplasm. Twenty-five (89%) patients presented hepatomegaly, and 19 (68%) had portal hypertension. The LB frequently showed slight sinusoid dilatation (82%). Fibrosis was observed in 3/6 indolent SM and in almost all advanced SM cases (21/22), but none of them showed cirrhosis. A high MC burden (>50 MCs/high-power field) was correlated with elevated blood alkaline phosphatase levels (p = .030). The presence of portal hypertension was associated with a higher mean fibrosis grade (1.6 vs. 0.8 in its absence; p = .026). In advanced SM, the presence of nodular regenerative hyperplasia (NRH) was associated with decreased overall survival (9.5 vs. 46.3 months, p = .002)., Conclusions: MC infiltration induced polymorphic hepatic lesions and the degree of fibrosis is associated with portal hypertension. NRH identifies a poor prognosis subgroup of patients with advanced SM. Assessing liver histology can aid in SM prognostic evaluation., (© 2024 The Authors. Liver International published by John Wiley & Sons Ltd.) more...
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- 2024
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10. Efficacy and safety of mammalian target of rapamycin inhibitors in systemic mastocytosis: A nationwide French pilot study.
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Moraly J, Rossignol J, Rouzaud C, Gabas T, Bouktit H, Lhermitte L, Canioni D, Fraitag S, Bruneau J, Barete S, Suarez F, Ballul T, Meni C, Polivka L, Terriou L, Launay D, Bouillet L, Gaudy-Marqueste C, Gousseff M, Le Mouel E, Neel A, Ranta D, Jaussaud R, Guilpain P, Frenzel L, Agopian J, Dubreuil P, Greco C, Dimicoli-Salazar S, Heiblig M, Gourguechon C, Tournilhac O, Javier RM, Castelain F, Cabrera Q, Gourin MP, Wierzbicka-Hainaut E, Torregrosa-Diaz JM, Bulai C, Lavigne C, Hoarau C, Arock M, Damaj G, Lortholary O, and Hermine O more...
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- Humans, Pilot Projects, Female, Male, Middle Aged, Adult, France, Aged, Proto-Oncogene Proteins c-kit genetics, Proto-Oncogene Proteins c-kit antagonists & inhibitors, Everolimus therapeutic use, Everolimus adverse effects, Treatment Outcome, TOR Serine-Threonine Kinases antagonists & inhibitors, Aged, 80 and over, Mastocytosis, Systemic drug therapy, Sirolimus therapeutic use, Sirolimus adverse effects, MTOR Inhibitors therapeutic use
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Systemic mastocytosis (SM) corresponds to a rare and heterogeneous spectrum of diseases characterized by the accumulation of atypical mast cells (MCs). Advanced mastocytosis (Adv-SM) is associated with poor survival; in contrast, patients with non-advanced SM (non-Adv-SM) usually have a normal life expectancy but may experience poor quality of life. Despite recent therapeutic progress including tyrosine kinase inhibitors, new treatment options are needed for refractory and/or intolerant patients with both severely symptomatic and Adv-SM. In vitro, the mTOR pathway is activated in MCs from patients bearing the KIT D816V mutation. Furthermore, rapamycin induces the apoptosis of KIT D816V MCs selectively. In this nationwide study, we report the outcomes of patients diagnosed with SM and treated with a mammalian target of rapamycin inhibitor (imTOR) within the French National Reference Center for mastocytosis (CEREMAST). All patients registered were relapsing, treatment-refractory, or ineligible for other cytoreductive therapy. Non-Adv-SM patients received imTOR as a monotherapy (rapamycin/everolimus), and Adv-SM patients received imTOR as a monotherapy or in combination with cytarabine. The objective response rate (ORR) in non-Adv-SM was 60% (partial response in 40% and major response in 20%), including reductions in skin involvement, mediator release symptoms, and serum tryptase. In the Adv-SM group, the ORR was 20% (including one major response and one partial response, both in patients with a KIT D816V mutation), which enabled a successful bridge to allogeneic stem cell transplantation in one patient. Our results suggest that imTOR treatment has potential benefits in patients with SM harboring a KIT D816V mutation., (© 2024 The Authors. American Journal of Hematology published by Wiley Periodicals LLC.) more...
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- 2024
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11. Pathophysiologic implications of elevated prevalence of hereditary alpha-tryptasemia in all mastocytosis subtypes.
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Polivka L, Madrange M, Bulai-Livideanu C, Barete S, Ballul T, Neuraz A, Greco C, Agopian J, Brenet F, Dubreuil P, Burdet C, Lemal R, Tournilhac O, Terriou L, Launay D, Bouillet L, Gourguechon C, Damaj G, Frenzel L, Meni C, Bouktit H, Collange AF, Gaudy-Marqueste C, Gousseff M, Le Mouel E, Hamidou M, Neel A, Ranta D, Jaussaud R, Guilpain P, Canioni D, Molina TJ, Bruneau J, Lhermitte L, Garcelon N, Javier RM, Pelletier F, Castelain F, Retornaz F, Cabrera Q, Zunic P, Gourin MP, Wierzbicka-Hainaut E, Viallard JF, Lavigne C, Hoarau C, Durieu I, Heiblig M, Dimicoli-Salazar S, Torregrosa-Diaz JM, Soria A, Arock M, Lortholary O, Bodemer C, Hermine O, and Rossignol J more...
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- Prevalence, Retrospective Studies, Tryptases genetics, Mast Cell Activation Syndrome, Humans, Mast Cells pathology, Mastocytosis, Systemic epidemiology, Mastocytosis, Systemic genetics, Mastocytosis, Systemic pathology, Anaphylaxis pathology, Mastocytosis epidemiology, Mastocytosis genetics, Mastocytosis pathology
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Background: Mastocytosis and monoclonal mast cell (MC) activation syndrome (MMAS) are heterogeneous conditions characterized by the accumulation of atypical MCs. Despite the recurrent involvement of KIT mutations, the pathophysiologic origin of mastocytosis and MMAS is unclear. Although hereditary α-tryptasemia (HαT, related to TPSAB1 gene duplication) is abnormally frequent in these diseases, it is not known whether the association is coincidental or causal., Objective: We evaluated the prevalence of HαT in all mastocytosis subtypes and MMAS and assessed the pathophysiologic association with HαT., Methods: Clinical data, laboratory data, KIT mutations, TPSAB1 duplication (assessed by droplet digital PCR), and HαT prevalence were retrospectively recorded for all patients with mastocytosis and MMAS registered in the French national referral center database and compared to a control cohort. To increase the power of our analysis for advanced systemic mastocytosis (advSM), we pooled our cohort with literature cases., Results: We included 583 patients (27 with MMAS and 556 with mastocytosis). The prevalence of HαT in mastocytosis was 12.6%, significantly higher than in the general population (5.7%, P = .002) and lower than in MMAS (33.3%, P = .02). HαT
+ patients were more likely to have anaphylactic reactions and less likely to have cutaneous lesions than HαT- patients (43.0% vs 24.4%, P = .006; 57.7% vs 75.6%, respectively, P = .006). In the pooled analysis, the prevalence of HαT was higher in advSM (11.5%) than in control cohorts (5.2%, P = .01)., Conclusion: Here we confirm the increase incidence of anaphylaxis in HαT+ mastocytosis patients. The increased prevalence of HαT in all subtypes of systemic mastocytosis (including advSM) is suggestive of pathophysiologic involvement., (Copyright © 2023 The Authors. Published by Elsevier Inc. All rights reserved.) more...- Published
- 2024
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12. Diagnoses associated with temporal arteritis.
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Pontille F, Decker P, Gauchotte G, Jaussaud R, and Moulinet T
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- Humans, Temporal Arteries, Diagnosis, Differential, Biopsy, Giant Cell Arteritis complications, Giant Cell Arteritis diagnosis
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Competing Interests: Declaration of Competing Interest None.
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- 2023
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13. Understanding the challenges, unmet needs, and expectations of mucopolysaccharidoses I, II and VI patients and their caregivers in France: a survey study.
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Guffon N, Genevaz D, Lacombe D, Le Peillet Feuillet E, Bausson P, Noel E, Maillot F, Belmatoug N, and Jaussaud R
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- Adult, Female, Adolescent, Humans, Child, Child, Preschool, Caregivers psychology, Motivation, France, Persons with Disabilities, Motor Disorders, Mucopolysaccharidoses diagnosis, Mucopolysaccharidosis I
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Background: Mucopolysaccharidoses (MPS) are a group of inherited lysosomal storage diseases caused by defective enzyme activity involved in the catalysis of glycosaminoglycans. Published data on adult patients with MPS remains scarce. Therefore, the present qualitative survey study was aimed at understanding knowledge of the disease, unmet needs, expectations, care, and overall medical management of adult/adolescent patients with MPS I, II and VI and their caregivers in France., Results: A total of 25 patients (MPS I, n
p = 11; MPS II, np = 9; MPS VI, np = 5) were included and about 36 in-depth interviews (caregivers alone, nc = 8; patients-caregiver pair, nc+p = 22; patients alone, np = 6) were conducted. Except one (aged 17 years), all patients were adults (median age: 29 years [17-50]) and diagnosed at median age of 4 years [0.4-30], with mainly mothers as caregivers (nc = 16/19). Patients were classified into three groups: Group A, Patients not able to answer the survey question because of a severe cognitive impairment (np = 8); Group B, Patients able to answer the survey question with low or no cognitive impairment and high motor disability (np = 10); and Group C, Patients able to answer the survey question with low or no cognitive impairment and low motor disability (np = 7). All groups were assessed for impact of disease on their daily lives based on a scale of 0-10. Caregivers in Group A were found to be most negatively affected by the disease, except for professional activity, which was most significantly impacted in Group B (4.7 vs. 5.4). The use of orthopaedic/medical equipments, was more prevalent in Groups A and B, versus Group C. Pain management was one of the global unmet need expressed by all groups. Group A caregivers expected better support from childcare facilities, disability clinics, and smooth transition from paediatric care to adult medicine. Similarly, Group B caregivers expected better specialised schools, whereas Group C caregivers expected better psychological support and greater flexibility in weekly infusion schedules for their patients., Conclusions: The survey concluded that more attention must be paid to the psychosocial status of patients and caregivers. The preference for reference centre for follow-up and treatment, hospitalizations and surgeries were evident. The most significant needs expressed by the patients and caregivers include better understanding of the disease, pain management, monitoring of complications, flexibility in enzyme replacement therapy, home infusions especially for attenuated patients, and improved transitional support from paediatric to adult medicine., (© 2022. The Author(s).) more...- Published
- 2022
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14. Tolerance and efficacy of targeted therapies prescribed for off-label indications in refractory systemic autoimmune diseases: data of the first 100 patients enrolled in the TATA registry (TArgeted Therapy in Autoimmune Diseases).
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Gottenberg JE, Chaudier A, Allenbach Y, Mekinian A, Amoura Z, Cacoub P, Cornec D, Hachulla E, Quartier P, Melki I, Richez C, Seror R, Terrier B, Devauchelle-Pensec V, Henry J, Gatfosse M, Bouillet L, Gaigneux E, Andre V, Baulier G, Saunier A, Desmurs M, Poulet A, Ete M, Bienvenu B, Truchetet ME, Michaud M, Larroche C, Dellal A, Leurs A, Ottaviani S, Nielly H, Vial G, Jaussaud R, Rouvière B, Jeandel PY, Guffroy A, Korganow AS, Jouvray M, Meyer A, Chatelus E, Sordet C, Felten R, Sibilia J, Litim-Ahmed-Yahia S, Kleinmann JF, and Mariette X more...
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- Adolescent, Female, Humans, Middle Aged, Interleukin-23, Off-Label Use, Prospective Studies, Registries, Autoimmune Diseases, COVID-19
- Abstract
Objectives: To assess the tolerance and efficacy of targeted therapies prescribed off-label in refractory low-prevalence autoimmune and inflammatory systemic diseases., Methods: The TATA registry (TArgeted Therapy in Autoimmune Diseases) is a prospective, observational, national and independent cohort follow-up. The inclusion criteria in the registry are as follows: age >18 years; low-prevalence autoimmune and inflammatory systemic disease treated with off-label drugs started after 1 January 2019., Results: Hundred (100) patients (79 women) were enrolled. The median age was 52.5 years (95% CI 49 to 56) and the median disease duration before enrolment was 5 years (3 to 7). The targeted therapies at enrolment were as follows: Janus kinase/signal transducers and activators of transcription inhibitors (44%), anti-interleukin (IL)-6R (22%), anti-IL-12/23, anti-IL-23 and anti-IL-17 (9%), anti-B cell activating factor of the tumour necrosis factor family (5%), abatacept (5%), other targeted treatments (9%) and combination of targeted treatments (6%). 73% of patients were receiving corticosteroid therapy at enrolment (median dose 10 mg/day). The current median follow-up time is 9 months (8 to 10). Safety: 11 serious infections (incidence rate of 14.8/100 patient-years) and 1 cancer (1.3 cancers/100 patient-years) were observed. Two patients died from severe COVID-19 (2.7 deaths/100 patient-years). Efficacy: the targeted treatment was considered effective by the clinician in 56% of patients and allowed, in responders, a median reduction of oral corticosteroids of 15 (9 to 21) mg/day, below 7.5 mg/day in 76% of patients, while 28% discontinued., Conclusion: These initial results of the TATA registry confirm the diversity of targeted treatments prescribed off-label in refractory autoimmune diseases and their corticosteroid-sparing effect when effective. Tolerance was acceptable in these refractory patients with a long history of treatment with immunosuppressive drugs., Competing Interests: Competing interests: XM received consulting fees from BMS, Novartis, Sanofi, Pfizer, UCB, Janssen, GSK, Galapagos and BMS and is RMD Open associate editor. JE-G received grants from BMS, Lilly, Pfizer (payments made to University of Strasbourg Foundation; no access to TATA data) and consulting fees from BMS, Galapagos, Abbvie, Janssen, Novartis, Pfizer, Sanofi, Gilead, Roche, Chugai and Lilly., (© Author(s) (or their employer(s)) 2022. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ.) more...
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- 2022
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15. JAK inhibitors and systemic sclerosis: A systematic review of the literature.
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Moriana C, Moulinet T, Jaussaud R, and Decker P
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- Animals, Fibrosis, Humans, Mice, Janus Kinase Inhibitors adverse effects, Lung Diseases, Interstitial drug therapy, Lung Diseases, Interstitial etiology, Scleroderma, Systemic drug therapy, Skin Diseases
- Abstract
Background: Systemic sclerosis (SSc) is a systemic autoimmune disease with heterogeneous clinical presentation and prognosis. JAK inhibitors reduced cutaneous and pulmonary fibrosis in mice models of SSc. Clinical data regarding the efficacy and safety of JAK inhibitors in SSc patients are scarce., Methods: We performed a systematic literature review of patients with SSc defined by the 2013 ACR/EULAR criteria and treated with JAK inhibitors, searching in Medline, Cochrane library and Embase databases., Results: Fifty-nine patients (mean age 47 ± 15 years) were included. Median treatment duration was 12 [6-12] months. JAK inhibitors (tofacitinib in 47 patients and baricitinib in 12 patients) were prescribed as first line therapy in 35 patients (59%). A significant cutaneous response (decrease in the mRSS - modified Rodnan skin score - of >5 points and ≥ 25% from baseline) was reported in 52 patients (88%). Among patients with interstitial lung disease (ILD) (n = 31), 28/29 patients had no ILD progression during follow-up time (missing data in 2 patients). Only 2 patients had a disease progression during treatment (including one patient with progressive skin fibrosis). Cutaneous response was more frequently observed in treatment naïve SSc patients. Decrease of the mRSS after treatment initiation was more significant in treatment naïve SSc patients. Eighteen non-serious side-effects were noted in 12 patients (20%), without treatment interruption: 6 infections, 6 gastrointestinal disorders, 4 hepatitis and 3 dyslipidemias., Conclusion: JAK inhibitors could represent a safe and effective treatment option for skin fibrosis and ILD in systemic sclerosis., Competing Interests: Declaration of Competing Interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2022 Elsevier B.V. All rights reserved.) more...
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- 2022
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16. Balance control impairments in Fabry disease.
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Peultier-Celli L, Jaussaud R, Kaminsky P, Deibener-Kaminsky J, Feillet F, and Perrin P
- Abstract
Background: Fabry disease (FD) is a rare inherited lysosomal storage disorder caused by the deficiency of the enzyme alpha-galactosidase A. This deficiency leads to an accumulation of glycosphingolipids leading to progressive and multisystemic disease, including renal, cardiac, and neurological damages. FD may also have neuro-otological and visual impairments, which can generate postural control alterations, inner ear, and vision being involved in this function. This study aimed to evaluate the impact of FD on postural control., Methods: In total, fourteen adult patients (8 men/6 women, mean age = 37.6 ± 11.4 years) and two children (mean age = 11 years) with FD and 19 healthy adults (12 men/7 women, mean age = 36.5 ± 16.9 years) and two healthy children (mean age = 10.5 years) took part in this study. Postural control was evaluated by a sensory organization test combining three visual situations (eyes open, eyes closed, and sway referenced visual surround motion) with two platform situations (stable platform and sway referenced platform motion), aiming to calculate a composite equilibrium score (CES), a high score being representative of good postural control. Somatosensory (R
SOM ), visual (RVIS ), and vestibular (RVEST ) contributions to postural control were calculated, a low score reflecting a poor use of the indicated sensory input., Results: The CES was lower in adult patients with FD compared with the healthy subjects ( p < 0.001). RVIS ( p = 0.001) and RVEST ( p = 0.003) were lower in patients with FD compared with the control group, whereas no difference in RSOM was observed., Conclusion: Inner ear and visual pathologies associated with the central nervous system impairments are factors of postural control impairments. Physical activities, which can also be rehabilitative, by maintaining or increasing the weight of proprioception, may help diminish dependency on altered sensorial inputs., 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 © 2022 Peultier-Celli, Jaussaud, Kaminsky, Deibener-Kaminsky, Feillet and Perrin.) more...- Published
- 2022
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17. Long-term prophylaxis in hereditary angioedema management: Current practices in France and unmet needs.
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Bouillet L, Fain O, Armengol G, Aubineau M, Blanchard-Delaunay C, Dalmas MC, De Moreuil C, Du Thanh A, Gobert D, Guez S, Hoarau C, Jaussaud R, Jeandel PY, Maillard H, Marmion N, Masseau A, Menetrey C, Ollivier Y, Pelletier F, Plu-Bureau G, Sailler L, Vincent D, Bouquillon B, Verdier E, Clerson P, Boccon-Gibod I, and Launay D more...
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- Androgens therapeutic use, Complement C1 Inhibitor Protein therapeutic use, Humans, Progestins therapeutic use, Quality of Life, Angioedemas, Hereditary drug therapy, Angioedemas, Hereditary prevention & control, Tranexamic Acid therapeutic use
- Abstract
Background: Hereditary angioedema (HAE) is characterized by unpredictable and potentially life-threatening attacks of cutaneous and submucosal swelling. Over the past decade, new agents, based on a better understanding of the underlying biologic mechanisms of HAE, have changed the face of long-term prophylaxis (LTP). Objective: The objective was to describe current practices and unmet needs with regard to LTP for HAE in expert centers in France. Methods: The study was conducted in France in 2020. Based on their experience with patients with HAE who had visited their center at least once in the past 3 years, physicians from 25 centers who are expert in the management of HAE were requested to fill in a questionnaire that encapsulated their active patient list, criteria for prescribing LTP, and medications used. They were asked about potential unmet needs with currently available therapies. They were asked to express their expectations with regard to the future of HAE management. Results: Analysis was restricted to 20 centers that had an active patient file and agreed to participate. There were 714 patients with C1 inhibitor (C1-INH) deficiency, of whom 423 (59.2%) were treated with LTP. Altered quality of life triggered the decision to start LTP, as did the frequency and severity of attacks. Ongoing LTP included androgens (28.4%), progestins (25.8%), lanadelumab (25.3%), tranexamic acid (14.2%), intravenous C1-INHs (5.6%), and recombinant C1-INH (0.7%). Twenty-nine percent of the patents with LTP were considered to still have unmet needs. Physicians' concerns varied among therapies: poor tolerability for androgens and progestins, a lack of efficacy for tranexamic acid and progestins, dosage form, and high costs for C1-INHs and lanadelumab. Physicians' expectations encompassed more-efficacious and better-tolerated medications, easier treatment administration for the sake of improved quality of life of patients, and less-expensive therapies. Conclusion: Despite the recent enrichment of the therapeutic armamentarium for LTP, physicians still expressed unmet needs with currently available therapies. more...
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- 2022
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18. Successful treatment with omalizumab for cold urticaria in a patient with chronic hepatitis C virus infection
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Tiotiu A and Jaussaud R
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- Humans, Omalizumab therapeutic use, Hepatitis C, Chronic complications, Hepatitis C, Chronic drug therapy, Urticaria drug therapy, Urticaria etiology
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- 2022
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19. Incidence, associated factors, and effect on renal function of amoxicillin crystalluria in patients receiving high doses of intravenous amoxicillin (The CRISTAMOX Study): A cohort study.
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Demotier S, Limelette A, Charmillon A, Baux E, Parent X, Mestrallet S, Pavel S, Servettaz A, Dramé M, Muggeo A, Wynckel A, Gozalo C, Taam MA, Fillion A, Jaussaud R, Trenque T, Piroth L, Bani-Sadr F, and Hentzien M more...
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Background: Amoxicillin crystalluria (AC), potentially responsible for acute kidney injury (AKI), is reported more and more frequently in patients treated with high doses of intravenous amoxicillin (HDIVA). The main objective of this study was to evaluate AC incidence in these patients. The secondary objectives were to identify factors associated with AC and to evaluate its impact on the risk of AKI., Methods: This multicentre, observational, cohort study was conducted between Mar 18, 2014 and Aug 16, 2019 in Dijon, Nancy, and Reims University Hospitals as well as Châlon-sur-Saône, Charleville-Mézières, and Troyes general hospitals in France. Adult patients (≥18 years) treated with HDIVA and having been tested for AC at least once during treatment were included. Clinical, biological, and therapeutic characteristics of the patients were collected. A univariable mixed logistic regression model assessed the factors associated with AC. A multivariable Cox model with AC as a time-dependent variable assessed the prognostic factors for AKI. ClinicalTrials.gov number: NCT02853292., Findings: Of the 112 included patients, 27 (24.1%, 95% CI [16.2-32.0]) developed at least one episode of AC within a mean of 5.1 days. The factors associated with its occurrence were the concomitant use of angiotensin converting enzyme (ACE) inhibitors (OR=4.6, 95% CI [2.2-9.3], p<0.0001) and the decrease of urinary pH (OR=2.1 for one pH point decrease, 95% CI [1.2-3.7], p=0.009). 20 patients (17.9%) presented with AKI, within a mean time of 10.9 days. The main factor associated with the occurrence of AKI was the occurrence of AC (aHR=7.4, 95% CI [2.5-22.2], p=0.0003)., Interpretation: AC occurred in a quarter of patients treated with HDIVA and was highly prognostic of AKI., Funding: None., Competing Interests: We declare no competing interests., (© 2022 The Author(s).) more...
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- 2022
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20. Interstitial pneumonia with autoimmune features: Evaluation of connective tissue disease incidence during follow-up.
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Decker P, Sobanski V, Moulinet T, Launay D, Hachulla E, Valentin V, Godbert B, Revuz S, Guillaumot A, Gomez E, Chabot F, Wémeau L, and Jaussaud R
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- Cohort Studies, Female, Follow-Up Studies, Humans, Incidence, Retrospective Studies, Connective Tissue Diseases complications, Connective Tissue Diseases epidemiology, Lung Diseases, Interstitial epidemiology
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Objectives: Among interstitial pneumonia with autoimmune features (IPAF) patients, identifying those at risk to develop a connective tissue disease (CTD) during the disease course is a key issue. The aim of this study was to evaluate the incidence of definite CTD diagnosis in IPAF patients during follow-up., Methods: We performed a multicentric cohort study of interstitial lung disease (ILD) from 2010 to 2017 in pneumology and immunology departments of tertiary care centers. Patients with a known cause of ILD (including established CTD) at diagnosis were excluded. Among patients with idiopathic ILD and at least three years of follow-up, two groups (IPAF and non-IPAF) were retrospectively analyzed at time of diagnosis., Results: A total of 249 patients with ILD were enrolled, including 70 IPAF and 179 non-IPAF patients. After a mean follow-up time of 77 ± 44 months, 18/70 IPAF patients (26%) had a CTD diagnosis - 9 antisynthetase syndrome, 8 systemic sclerosis and 1 overlap myositis - compared with 4/179 non-IPAF patients (2%). IPAF patients were at higher risk of CTD occurrence at 3 years of follow-up compared to non-IPAF patients (HR 10.1, 95% CI 3.1-33.1, p < 0. 01). IPAF patients progressing to CTD tended to be younger, more often female and have more frequently puffy fingers, capillaroscopy abnormalities and antisynthetase antibodies at diagnosis., Conclusions: We found that a significant proportion of IPAF patients had associated CTD diagnosis during follow-up. Prospective studies are needed to confirm baseline predictive factors of CTD occurrence in IPAF patients., (Copyright © 2021 European Federation of Internal Medicine. Published by Elsevier B.V. All rights reserved.) more...
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- 2022
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21. An updated review of anti-Ro52 (TRIM21) antibodies impact in connective tissue diseases clinical management.
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Decker P, Moulinet T, Pontille F, Cravat M, De Carvalho Bittencourt M, and Jaussaud R
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- Autoantibodies, Humans, Ribonucleoproteins, Autoimmune Diseases diagnosis, Connective Tissue Diseases diagnosis, Sjogren's Syndrome
- Abstract
Anti-Ro52 (or anti-TRIM21) antibodies are part of the family of anti-Ro/SSA antibodies, historically markers of Sjögren syndrome and systemic lupus erythematosus. Anti-Ro52 antibodies represent one the most frequently encountered autoantibodies in patients with connective tissue disease (primary Sjögren syndrome, systemic lupus erythematosus, systemic sclerosis and idiopathic inflammatory myopathies). Because of their lack of specificity and detection in patients with non-autoimmune disorders, the usefulness of anti-Ro52 testing in connective tissue diseases is still matter of debate among clinicians and immunologists. Autoantibodies are mainly diagnostic markers for autoimmune diseases but some of them can also be directly involved in the generation of tissue damage. Over the past decade several authors reported associations of anti-Ro52 antibodies with some clinical features - especially interstitial lung disease - and survival in patients with connective tissue diseases. There is also a growing evidence of the role of anti-Ro52 antibodies in the pathogenesis of connective tissue diseases. In this review, we comprehensively discuss the clinical associations of anti-Ro52 antibodies in the different connective tissue diseases and the recent advances on their potential role in the inflammatory response., (Copyright © 2021 Elsevier B.V. All rights reserved.) more...
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- 2022
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