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Alain Calender, Pierre Antoine Rollat Farnier, Adrien Buisson, Stéphane Pinson, Abderrazzaq Bentaher, Serge Lebecque, Harriet Corvol, Rola Abou Taam, Véronique Houdouin, Claire Bardel, Pascal Roy, Gilles Devouassoux, Vincent Cottin, Pascal Seve, Jean-François Bernaudin, Clarice X Lim, Thomas Weichhart, Dominique Valeyre, Yves Pacheco, Annick Clement, Nadia Nathan
BACKGROUND: Sarcoidosis (OMIM 181000) is a multi-systemic granulomatous disorder of unknown origin. Despite multiple genome-wide association (GWAS) studies, no major pathogenic pathways have been identified to date. To find out relevant sarcoidosis predisposing genes, we searched for de novo and recessive mutations in 3 young probands with sarcoidosis and their healthy parents using a whole-exome sequencing (WES) methodology. METHODS: From the SARCFAM project based on a national network collecting familial cases of sarcoidosis, we selected three families (trios) in which a child, despite healthy parents, develop the disease before age 15 yr...
March 6, 2018: BMC Medical Genomics
Yvan Jamilloux, Fleur Cohen-Aubart, Catherine Chapelon-Abric, Delphine Maucort-Boulch, Alicia Marquet, Laurent Pérard, Laurence Bouillet, Alban Deroux, Sébastien Abad, Philip Bielefeld, Diane Bouvry, Marc André, Nicolas Noel, Boris Bienvenu, Alice Proux, Sandra Vukusic, Bahram Bodaghi, Françoise Sarrot-Reynauld, Jean Iwaz, Zahir Amoura, Christiane Broussolle, Patrice Cacoub, David Saadoun, Dominique Valeyre, Pascal Sève
INTRODUCTION: The off-label use of TNF antagonists in refractory sarcoidosis is increasingly reported but data on their efficacy and safety are still insufficient. OBJECTIVE: To report on efficacy and safety of TNF antagonists in severe and refractory sarcoidosis. METHODS: Examination of retrospective demographic, clinical, therapeutic, and adverse event data on 132 sarcoidosis patients (58% women; mean (min-max) age = 45.5 (14-78) years) given TNF antagonists (mainly infliximab, 91%) and investigation of response-linked factors...
October 2017: Seminars in Arthritis and Rheumatism
Etienne Ghrenassia, Arsene Mekinian, Catherine Chapelon-Albric, Pierre Levy, Jacques Cosnes, Pascal Sève, Guillaume Lefèvre, Robin Dhôte, David Launay, Virginie Prendki, Sandrine Morell-Dubois, Danielle Sadoun, Anas Mehdaoui, Michael Soussan, Anne Bourrier, Laure Ricard, Robert Benamouzig, Dominique Valeyre, Olivier Fain
Digestive tract sarcoidosis (DTS) is rare and case-series are lacking. In this retrospective case-control study, we aimed to compare the characteristics, outcome, and treatment of patients with DTS, nondigestive tract sarcoidosis (NDTS), and Crohn disease.We included cases of confirmed sarcoidosis, symptomatic digestive tract involvement, and noncaseating granuloma in any digestive tract. Each case was compared with 2 controls with sarcoidoisis without digestive tract involvement and 4 with Crohn disease.We compared 25 cases of DTS to 50 controls with NDTS and 100 controls with Crohn disease...
July 2016: Medicine (Baltimore)
M Khadhar, H Jebali, R Kheder, L Ben Fatma, L Raïs, W Smaoui, M Krid, F Ben Moussa, S Beji, K Zouaghi
OBJECTIFS: La granulomatose rénale est une infiltration inflammatoire de l'interstitium rénal. Elle réalise un tableau de néphropathie tubulo-interstitielle dans la plupart des cas. L'hypertension artérielle complique exceptionnellement cette atteinte. MéTHODES: Nous rapportons une observation d'une granulomatose rénale compliquée d'hypertension artérielle maligne et d'insuffisance rénale aigue. RéSULTATS: Nous rapportons le cas de la patiente A. S âgée de 18 ans, sans antécédents notables, hospitalisée pour prise en charge d'une sarcoïdose sys-témique...
December 2015: Annales de Cardiologie et D'angéiologie
M K Moudden, T Ziadi, A Al Bouzidi, A Ouarssani, L Hadri, M El Baaj
Induced sarcoïdosis during therapy with interferon for chronic viral hepatitis C involves mainly by isolated cutaneous lesions or with lung lesions. Systemic forms are very rare. We report an observation. A 50-year-old patient developed a systemic sarcoïdosis two months after the end of treatment for hepatitis C with pegylated interferon and ribavirin with lung, joint and hepatic manifestations. After starting corticosteroid therapy, the evolution was favourable. Induced sarcoïdosis by interferon therapy is rare, treatment necessitates stopping interferon, and sometimes corticosteroid therapy...
December 2014: Revue de Pneumologie Clinique
Yvan Jamilloux, Antoine Néel, Marie Lecouffe-Desprets, Anne Fèvre, Sebastien Kerever, Benoit Guillon, Diane Bouvry, Loig Varron, Cécile Redares, Stéphane Dominique, Mareille Roux, Catherine Chapelon-Abric, Dominique Valeyre, François Ducray, Claire Bernard, Christiane Broussolle, Mohamed Hamidou, Pascal Sève
OBJECTIVE: To describe characteristics, risk factors, and treatment outcome of progressive multifocal leukoencephalopathy (PML) complicating sarcoidosis. METHODS: A retrospective chart and literature review was performed. Patients were identified through records from physicians of the Groupe Sarcoïdose Francophone. Each case was compared with 3 controls. RESULTS: Ten cases were found (8 men). The median age at sarcoidosis diagnosis was 34...
April 15, 2014: Neurology
L E Caspers, H Ebraert, D Makhoul, F Willermain, O Michel
PURPOSE: To evaluate the use of BAL for the diagnosis of sarcoidosic uveitis. METHODS: Retrospective study of 109 consecutive patients with uveitis and minimum 2 signs of ocular sarcoidosis who had a BAL and chest imaging. BAL(+) was defined as an alveolar (a) lymphocytosis (L) aL > 15% with aCD4/CD8 > 3.5. Serum angiotensin converting enzyme (sACE), tuberculin skin test and gallium scan were tested in 83, 95 and 24 patients. RESULTS: BAL was + in 26...
April 2014: Ocular Immunology and Inflammation
Diane Bouvry, Luc Mouthon, Pierre-Yves Brillet, Marianne Kambouchner, Jean-Pierre Ducroix, Vincent Cottin, Julien Haroche, Jean-Francois Viallard, Romain Lazor, François Lebargy, Abdellatif Tazi, Benoît Wallaert, Amar Smail, Jean-Luc Pellegrin, Hilario Nunes, Zahir Amoura, Jean-François Cordier, Dominique Valeyre, Jean-Marc Naccache
The aim of the present study was to investigate to what extent interstitial lung disease (ILD) in common variable immunodeficiency disorder (CVID)-associated granulomatous disease (GD) is similar to pulmonary sarcoidosis 20 patients with CVID/GD were included in a retrospective study conducted by the Groupe Sarcoïdose Francophone. Medical records were centralised. Patients were compared with 60 controls with sarcoidosis. Clinical examination showed more frequent crackles in patients than controls (45% versus 1...
January 2013: European Respiratory Journal: Official Journal of the European Society for Clinical Respiratory Physiology
A Bouaziz, J Le Scanff, C Chapelon-Abric, L Varron, S Khenifer, A Gleizal, M-H Bentz, A Barthel, D Valeyre, P Seve
AIM: To assess the clinical features, treatment and outcome of oral sarcoidosis and to determine whether oral involvement is associated with a particular clinical phenotype of sarcoidosis. DESIGN: Multicentric retrospective study. METHODS: Retrospective chart review. Each patient was matched with four controls. RESULTS: Twelve patients (9 women, 3 men) were identified. Their median age at sarcoidosis diagnosis was 38 years...
August 2012: QJM: Monthly Journal of the Association of Physicians
Nessrine Akasbi, Akasbi Nessrine, Latifa Tahiri, Tahiri Latifa, Abdelkarim Daoudi, Daoudi Abdelkarim, Mouhcine Bendahou, Bendahou Mouhcine, Taoufik Harzy, Harzy Taoufik
We report the first case of an unusual sarcoidosic muscular involvement, complicated with radial nerve palsy. A 58-year-old woman suffering from a mediastinopulmonary sarcoidosis, was admitted for a driving deficit of the hands with a radially deviation during the wrist extension. She had been given a diagnosis of motor branch radial nerve entrapment syndrome. The patient had neurolysis with many muscle biopsies compatible with multiples sarcoidosic nodules, especially at the level of supinator muscle at the origin of the radial nerve compression...
October 2011: Joint, Bone, Spine: Revue du Rhumatisme
Masa Knehtl, Hanna Debiec, Prochore Kamgang, Patrice Callard, Jacques Cadranel, Pierre Ronco, Jean-Jacques Boffa
We report the case of a 29-year-old man with membranous nephropathy that was associated with a sarcoidosic granulomatous tubulointerstitial nephritis, but was without an apparent calcium metabolism disorder. Corticosteroid treatment was associated with remission of nephrotic syndrome. We discuss the relationship between membranous nephropathy and sarcoidosis based on the close appearance of the 2 diseases and the detection of phospholipase A₂ receptor in glomerular immune deposits.
January 2011: American Journal of Kidney Diseases: the Official Journal of the National Kidney Foundation
F Jounieaux, C Chapelon, D Valeyre, D Israel Biet, V Cottin, A Tazi, E Fournier, B Wallaert
The management of chronic forms of sarcoidosis can be a difficult therapeutic problem. The purpose of this observational study was to analyze the effectiveness and tolerance of infliximab in chronic sarcoidosis. This multicentre retrospective study involved 31 cases of chronic, systemic, and/or pulmonary sarcoidosis treated by infliximab. Disease had been present for 9 years and involved a mean of four organs. Patients had received several immunosuppressive drugs and 30/31 were treated with corticosteroids (19 ± 16 mg prednisone/day) with the addition in 17 cases, of one or more other immunosuppressive agents...
September 2010: Revue des Maladies Respiratoires
Simone Muenst, Stephan Dirnhofer, Alexandar Tzankov
OBJECTIVES: Programmed death-1 (PD-1) is physiologically expressed by germinal center (GC)-associated helper T cells. It has been proposed that an increase in PD-1+ cells outside GC could indicate pattern I angioimmunoblastic T-cell lymphoma (AITL). METHODS: We studied the distribution of PD-1+ cells in reactive lymphadenopathies (LA), including HIV-associated and dermatopathic LA (n = 5, each), Castleman (n = 3), Kikuchi (n = 2) and Rosai-Dorfman diseases (n = 1), sarcoidoses (n = 7) and follicular hyperplasias (n = 8)...
2010: Pathobiology: Journal of Immunopathology, Molecular and Cellular Biology
Jelena Paović, Predrag Paović, Miroslav Vukosavljević
BACKGROUND/AIM: Vasculitis is a clinical, pathologic process characterized by inflammation and necrosis of blood vessel occuring anywhere in the body. The aim of the study was to present some clinical and immunologic features of retinal vasculitis in systemic diseases: systemic lupus erythematosus, multiple sclerosis, sarcoidosis, Behcet's diseases, and others. METHODS: A total of 1 254 peatients with uveitis were included in the study. The immunochemical diagnostic methods were used to determine the pathogenesis of ocular manifestations...
December 2009: Vojnosanitetski Pregled. Military-medical and Pharmaceutical Review
Georges Nawfal, Christelle Budin, Raymonde Bouvier, Alain Lachaux
Sarcoidose is a rare disease in children. The aminotransaminase level is often normal to moderately elevated (2 to 3 folds of the normal level). We report the case of a child who presented an aminotransaminase level that was 10 times the normal level, as the first manifestation of sarcoidosis.
2009: Case Reports in Medicine
C Baeteman, L Guyot, J Bouvenot, C Chossegros, F Cheynet, C Loudot, J Serratrice, S Attarian
INTRODUCTION: Labial salivary gland biopsy (LSGB) is a very useful technique that is often performed in our specialty. A lot of these LSGB yield normal results and the interest of this technique may be discussed. This study was made to answer two questions: one on the diagnostic interest of LSGB for the suspected pathology, secondly to verify if there was a correlation between the results of LSGB assessment and the patient's final diagnosis. MATERIAL AND METHODS: Ninety-six LSGB were performed in 2004 for Sjögren syndrome, sarcoidosis, amyloidosis and other auto-immune diseases...
June 2008: Revue de Stomatologie et de Chirurgie Maxillo-faciale
Tae-Hun Kim, Jong-Eun Joo
A 39-year-old male patient complaining of bilateral hand joint arthralgia was evaluated and found to have chronic hepatitis C and systemic sarcoidosis involving lung, skin, liver, and spleen. Hepatic and cutaneous sarcoidoses were confirmed by the presence of numerous noncaseating granulomas on histological examination. Pulmonary and splenic involvements were diagnosed by imaging studies. Fifteen months later, the sarcoidotic lesions in lung, liver, and spleen were resolved by radiological studies and a liver biopsy showed no granuloma but moderate to severe inflammatory activity...
January 7, 2006: World Journal of Gastroenterology: WJG
Maria João Canotilho, Salvato Feijó, A Bugalho de Almeida
Transbronchial needle aspiration was initially invented in 1949 by Schieppati. After its adaptation to the flexible bronchoscope in 1983 by Wang this technique has gain firm indications in the diagnosis and staging of lung cancer, in peripheral pulmonary nodules and masses; in the evaluation of endobronchial masses; in the disease of submucosal, in benign diseases, i.e. sarcoidoses and mediastinal cysts and abscesses. The yield of this technique published in the literature makes it more than useful. The material available has different indications and usefulness in different clinical settings...
May 2005: Revista Portuguesa de Pneumologia
Luciano Farage, Mário Augusto Padula Castro, Túlio Augusto Alves Macedo, Paulo César Naves Borges, Lincoln Pereira de Souza, Luiz Oliveira de Freitas
Ophthalmoplegic migraine is a rare syndrome in which headache is associated with ophthalmoplegia and third, fourth or sixth cranial nerves palsy. It occurs most frequently in childhood and teenagers. At magnetic resonance imaging (MRI) with gadolinium (GD-DTPA) it may be observed a transitory enhancement of the affected nerve. We present the case of a male teenager, 16 years old, with typical medical history and enhanced signal at left oculomotor nerve in cisternal portion at MRI weighted in T1 with GD-DTPA...
March 2005: Arquivos de Neuro-psiquiatria
Fatima-Zohra Alaoui, Maha Talaoui, Saida Benamour
OBJECTIVE: Osteo-articular sarcoidosis may be evoked in the presence of peripheral articular manifestations or bone lesions that are sometimes asymptomatic. The aim of this work is to describe clinical and progressive features of sarcoidosis with osteo-articular involvement. METHODS: Our retrospective study concerned 18 patients presenting with osteo-articular sarcoidosis from 1985 to 1999. We included patients with clinical diagnosis suggestive of sarcoidosis and with at least one positive biopsy...
January 15, 2005: La Presse Médicale
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