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1. Pregnancy outcomes in women with primary Sjögren's syndrome: an analysis of data from the multicentre, prospective, GR2 study

Author

Grégoire Martin de Frémont, Nathalie Costedoat-Chalumeau, Estibaliz Lazaro, Rakiba Belkhir, Gaëlle Guettrot-Imbert, Nathalie Morel, Gaétane Nocturne, Anna Molto, Tiphaine Goulenok, Elisabeth Diot, Laurent Perard, Nicole Ferreira-Maldent, Maelle Le Besnerais, Nicolas Limal, Nihal Martis, Noémie Abisror, Odile Debouverie, Christophe Richez, Vincent Sobanski, François Maurier, Gaëtan Sauvetre, Hervé Levesque, Marie-Agnès Timsit, Nathalie Tieulié, Pauline Orquevaux, Boris Bienvenu, Matthieu Mahevas, Thomas Papo, Céline Lartigau-Roussin, Elodie Chauvet, Emilie Berthoux, Françoise Sarrot-Reynauld, Loïc Raffray, Marion Couderc, Nicolas Martin Silva, Noémie Jourde-Chiche, Nicolas Belhomme, Thierry Thomas, Vincent Poindron, Viviane Queyrel-Moranne, Juliette Delforge, Camille Le Ray, Emmanuelle Pannier, Xavier Mariette, Véronique Le Guern, Raphaèle Seror, Alexandra AUDEMARD-VERGER, Emmanuel AZZI, Béatrice BANNEVILLE, Antoine BAUDET, Constance BEAUDOUIN BAZIRE, Cristina BELIZNA, Alexandre Belot, Ygal BENHAMOU, Alice Berezné, Fanny BERNARD-GUERVILLY, Sabine BERTHIER, Holy BEZANAHARY, Lisa BIALE, Adrien BIGOT, Claire BLANCHARD-DELAUNAY, Anne CALAS, Julien CAMPAGNE, Pascal CATHEBRAS, Claire CAZALETS, Benjamin CHAIGNE, Olivia CHANDESRIS, Jérémy CHATELAIS, Emmanuel CHATELUS, Fleur COHEN, Bernard Combe, Céline COMPARON, Pascal COQUERELLE, Louise DAMIAN, Eric DAUGAS, Mathilde DE MENTHON, Claire DE MOREUIL, Estelle DELATTRE, Azeddine DELLAL, Catherine Deneux-Tharaux, Amélie DENIS, Camille DEPROUW, Emmanuelle DERNIS, Alban DEROUX, Sandra DESOUCHES, Philippe Dieudé, Guillaume DIREZ, Maxime Dougados, Marine DRIESSEN, Aurélie DU THANH, Laetitia DUNOGEANT, Cécile DURANT, Cécile-Audrey DUREL, Isabelle DURIEU, Florence EBOUE, Elisabeth Elefant, Olivier FAIN, Bruno FAUTREL, René-Marc FLIPO, Aline FRAZIER, Antoine FROISSART, Sophie GEORGIN-LAVIALLE, Elisabeth GERVAIS, Bertrand GODEAU, François Goffinet, Anne GOMPEL, Laure GOSSEC, Philippe GOUPILLE, Claire GRANGE, Constance GUILLAUD-DANIS, Eric HACHULLA, Sabine HOEFSLOOT, Aurélie HUMMEL, Patrick JEGO, Stéphanie JOBARD, Laurence JOSSELIN-MAHR, Marc LAMBERT, Vincent LANGLOIS, Delphine LARIVIERE, Claire LARROCHE, Augustin LATOURTE, Christian LAVIGNE, Thomas LE GALLOU, Gaëlle LEROUX, Jean Guillaume LETAROUILLY, Frédéric LIOTÉ, Laurence Loeuillet, Jonathan London, Valentine Loustau, Pierre LOZAC'H, Emmanuel MAHEU, Hélène MAILLARD, Hubert MAROTTE, Agathe MASSEAU, Arsène MEKINIAN, Sara Melboucy Belkhir, Corinne Miceli-Richard, Martin MICHAUD, Marc MICHEL, Olivier MORANNE, Chafika MORATI-HAFSAOUI, Guillaume MOULIS, Luc MOUTHON, Barbara NICOLAS, Jacky Nizard, Jérémy ORA, Rodérau OUTH, Elisabeth PASQUIER, Jean-Loup PENNAFORTE, Antoinette PERLAT, Hélène PETIT-BAUER, Evangeline PILLEBOUT, Jean-Maxime PIOT, Agnès PORTIER, Olivier Pourrat, Xavier PUECHAL, Gregory PUGNET, Manon REDONDIN, Alexis REGENT, Mélanie RORIZ, Laurent SAILLER, Léa SAVEY, Marc SCHERLINGER, Nicolas SCHLEINITZ, Jérémie Sellam, Loïc Sentilhes, Aude SERVAIS, Perrine SMETS, Christelle SORDET, Martin SOUBRIER, Katia STANKOVIC-STOJANOVIC, Geoffrey URBANSKI, Véronique VEIT, Emmanuelle WEBER, and Cécile YELNIK

Subjects
Rheumatology, Immunology, Immunology and Allergy
Published
2023
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2. Invasive bone and joint infections from the French Scedosporiosis/lomentosporiosis Observational Study (SOS) cohort: no mortality with long-term antifungal treatment and surgery

Author

Damien Blez, Didier Bronnimann, Blandine Rammaert, Valérie Zeller, Laurence Delhaes, Laurent Hustache, Frédéric Grenouillet, Nicolas Traversier, Julie Bonhomme, Taieb Chouaki, Thomas Perpoint, Florence Persat, Marie Elisabeth Bougnoux, Sophie Bayle, Luc Quaesaet, Gilles Nevez, David Boutoille, Florent Morio, Laurence Pougnet, Viviane Queyrel-Moranne, B́eate Heym, Romain Guillemain, Éric Dannaoui, Antoine Roux, Dea Garcia-Hermoso, Fanny Lanternier, CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), CHU Bordeaux [Bordeaux], Pharmacologie des anti-infectieux et antibiorésistance (PHAR2), Université de Poitiers-Institut National de la Santé et de la Recherche Médicale (INSERM), Université de Poitiers - Faculté de Médecine et de Pharmacie, Université de Poitiers, Centre hospitalier universitaire de Poitiers (CHU Poitiers), Groupe Hospitalier Diaconesses Croix Saint-Simon, INSERM U1045, IHU-LIRYC, Centre Hospitalier Régional Universitaire de Besançon (CHRU Besançon), Laboratoire Chrono-environnement (UMR 6249) (LCE), Centre National de la Recherche Scientifique (CNRS)-Université de Franche-Comté (UFC), Université Bourgogne Franche-Comté [COMUE] (UBFC)-Université Bourgogne Franche-Comté [COMUE] (UBFC), Centre hospitalier Félix-Guyon [Saint-Denis, La Réunion], Hôpital Côte de Nacre [CHU Caen], CHU Caen, Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN)-Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN), CHU Amiens-Picardie, Hospices Civils de Lyon (HCL), Physiopathologie de l'immunodépression associée aux réponses inflammatoires systémiques / Pathophysiology of Injury-induced Immunosuppression (PI3), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon, Centre National de Référence Mycoses Invasives et Antifongiques - National Reference Center Invasive Mycoses & Antifungals (CNRMA), Institut Pasteur [Paris] (IP)-Université Paris Cité (UPCité), Centre Hospitalier Henri Duffaut (Avignon), Hôpital de la Cavale Blanche - CHRU Brest (CHU - BREST ), Hôpital Morvan - CHRU de Brest (CHU - BREST ), Centre hospitalier universitaire de Nantes (CHU Nantes), Centre d’Investigation Clinique de Nantes (CIC Nantes), Université de Nantes (UN)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre hospitalier universitaire de Nantes (CHU Nantes), Cibles et Médicaments des Infections et de l'Immunité (IICiMed), Nantes Université - UFR des Sciences Pharmaceutiques et Biologiques (Nantes Univ - UFR Pharmacie), Nantes Université - pôle Santé, Nantes Université (Nantes Univ)-Nantes Université (Nantes Univ)-Nantes Université - pôle Santé, Nantes Université (Nantes Univ)-Nantes Université (Nantes Univ), Hôpital d'Instruction des Armées 'Clermont-Tonnerre' (HIA), Hôpital Pasteur [Nice] (CHU), Hôpital Européen Georges Pompidou [APHP] (HEGP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO), and Hôpital Foch [Suresnes]

Subjects
Infectious Diseases, arthritis, [SDV.MHEP.MI]Life Sciences [q-bio]/Human health and pathology/Infectious diseases, osteomyelitis, Lomentospora, bone infections, Scedosporium, General Medicine, scedosporiosis
Abstract

Little is known about localized osteoarticular Scedosporiosis (LOS). Most data come from case reports and small case series. Here we present an ancillary study of the nationwide French Scedosporiosis Observational Study (SOS), describing 15 consecutive cases of LOS diagnosed between January 2005 and March 2017. Adult patients diagnosed with LOS defined by osteoarticular involvement without distant foci reported in SOS were included. Fifteen LOS were analyzed. Seven patients had underlying disease. Fourteen patients had prior trauma as potential inoculation. Clinical presentation was arthritis (n = 8), osteitis (n = 5), and thoracic wall infection (n = 2). The most common clinical manifestation was pain (n = 9), followed by localized swelling (n = 7), cutaneous fistulization (n = 7), and fever (n = 5). The species involved were Scedosporium apiospermum (n = 8), S. boydii (n = 3), S. dehoogii (n = 1), and Lomentospora prolificans (n = 3). The species distribution was unremarkable except for S. boydii, which was associated with healthcare-related inoculations. Management was based on medical and surgical treatment for 13 patients. Fourteen patients received antifungal treatment for a median duration of 7 months. No patients died during follow-up. LOS exclusively occurred in the context of inoculation or systemic predisposing factors. It has a non-specific clinical presentation and is associated with an overall good clinical outcome, provided there is a prolonged course of antifungal therapy and adequate surgical management.

Published
2023
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3. IgA vasculitis in patients with inflammatory bowel disease: new insights into the role of TNF-α blockers

Author

Cécile Audrey Durel, Guillaume Moulis, Mathurin Fumery, Vered Abitbol, Stéphane Nancey, Groupe français d’étude des vascularites, Marie-Christine Martinez Vinson, Khalil El Karoui, Viviane Queyrel-Moranne, Christian Agard, Alexis Régent, Stéphane Koch, Benjamin Terrier, Didier Ducloux, Anne-Gaëlle Kervegant, Laurent Peyrin Biroulet, David Laharie, Anne Bourrier, Michael T. Collins, Lucine Vuitton, Cédric Rafat, Loïc Guillevin, Romain Paule, Mickaela Voicu, Camille Rasmussen, François Aubin, François Maurier, Caroline Morbieu, Nizar Joher, Tali Anne Szwebel, and Bénédicte Pigneur

Subjects
Vasculitis, medicine.medical_specialty, IgA Vasculitis, Cyclophosphamide, Antineoplastic Agents, Gastroenterology, Inflammatory bowel disease, Rheumatology, Recurrence, Internal medicine, medicine, Humans, Pharmacology (medical), Retrospective Studies, Crohn's disease, Tumor Necrosis Factor-alpha, business.industry, Inflammatory Bowel Diseases, medicine.disease, Ulcerative colitis, Immunoglobulin A, Discontinuation, IgA vasculitis, Tumor Necrosis Factor Inhibitors, Complication, business, medicine.drug
Abstract

Objective The association of IgA vasculitis (IgAV) and IBD is rarely described, mainly during anti-TNF-α therapy. We aimed to describe the association of IgAV and IBD. Methods We retrospectively analysed the association of IgAV and IBD through the implication of the GETAID and FVSG networks. Characteristics of IBD and IgAV were collected using a standardized case report form. Results Forty-three cases were included. IBD [mainly Crohn’s disease (CD) in 58%] preceded IgAV in 38 (88%), with median interval of 9.2 (IQR 5.4–15.4) years. In these 38 patients, at IgAV diagnosis, five (13%) had active IBD and 28 (74%) were treated with anti-TNF-α for a median duration of 31.5 (IQR 19–56) months. Main IgAV manifestations were purpura all patients (100%), joints in 20/35 (57%), renal in 15/35 (43%) and gastrointestinal in 11/35 (31%) involvement. IgAV was treated with glucocorticoids in 25 (66%), colchicine in six (16%), CYC in six (16%) and anti-TNF-α were discontinued in 15/28 (54%). No IgAV relapse occurred when TNF-α blockers were stopped, vs 23% in patients pursuing it. Conversely, five (33%) had IBD flare or complication after anti-TNF-α cessation vs one (8%) in those continuing biologics. Anti-TNF-α were resumed in six (40%), with subsequent IgAV relapse in four (67%). Conclusions This large cohort suggests that TNF-α blockers may promote the onset of IgAV in IBD. Discontinuation of anti-TNF-α was associated with vasculitis remission but increased risk of IBD relapses, whereas continuation of anti-TNF-α was associated with IBD remission but vasculitis relapse.

Published
2021
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4. FC053: Weaning of Maintenance Immunosuppressive Therapy in Lupus Nephritis (Win-Lupus): A multicenter randomized controlled trial

Author

Noemie Jourde-Chiche, Nathalie Costedoat-Chalumeau, Karine Baumstarck, Laurence Bouillet, Stephane Burtey, Valerie Caudwell, Laurent Chiche, Lionel Couzi, Laurent Daniel, Christophe Deligny, Bertrand Dussol, Stanislas Faguer, Pierre Gobert, Guillaume Gondran, Antoine Huart, Aurélie Hummel, Emilie Kalbacher, Karras Alexandre, Marc Lambert, Veronique Le Guern, Sandrine Loubiere, Helene Maillard, Francois Maurier, Micheline Pha, Viviane Queyrel-Moranne, Francoise Sarrot, David Verhelst, Eric Hachulla, Zahir Amoura, and Eric Daugas

Subjects
Transplantation, Nephrology
Abstract

BACKGROUND AND AIMS Lupus nephritis (LN) is a frequent complication of systemic lupus erythematosus (SLE). Severe (proliferative) forms of LN are treated with an induction immunosuppressive therapy (IST), followed by a maintenance IST, to target remission and avoid relapses. The optimal duration of maintenance IST for proliferative LN is unknown. The WIN-Lupus trial tested whether IST discontinuation after 2–3 years in proliferative LN was non-inferior to IST continuation for 2 more years. METHOD WIN-Lupus is an investigator-initiated academic randomized controlled trial, conducted in 28 French centres. Patients on maintenance IST with azathioprine or mycophenolate mofetil for a minimum of 2 years and a maximum of 3 years, and those who were taking hydroxychloroquine were randomized (1:1) between two groups: IST continuation and IST discontinuation. The primary endpoint was the relapse rate of proliferative LN at 24 months. Secondary endpoints were the rate of severe SLE flares, survival without renal relapse or severe flare, adverse events, kidney function, disease activity, corticosteroid exposure, patient-reported outcome and medico-economic impact. RESULTS Between 2011 and 2016, 125 patients were screened and 96 were randomized in the trial: 48 in the IST continuation group and 48 in the IST discontinuation group. In the per-protocol population, a relapse of proliferative LN occurred in 5/40 (10.4%) patients with IST continuation, and in 12/44 (25%) patients with IST discontinuation (difference 14.8%, 95% CI [−1.9; 31.5]). Noninferiority was not demonstrated for relapse rate. Time to renal relapse did not differ between groups (P = 0.092). Severe SLE flares (renal or extrarenal) were less frequent in patients with IST continuation compared to IST discontinuation (5/40 versus 14/44 patients; P = 0.035). IST discontinuation was associated with lower health-related costs. Adverse events did not differ between groups. CONCLUSION Noninferiority of maintenance IST discontinuation after 2 to 3 years was not demonstrated for renal relapse. IST discontinuation was associated with a higher risk of severe SLE flare.

Published
2022
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5. Prognostic factors in giant cell arteritis associated aortitis with PET/CT and CT angiography at diagnosis

Author

Victor Genin, Jean-François Alexandra, Hubert de Boysson, Laurent Sailler, Maxime Samson, Brigitte Granel, Karim Sacre, Thomas Quéméneur, Clémentine Rousselin, Geoffrey Urbanski, Julie Magnant, Valérie Devauchelle-Pensec, Viviane Queyrel-Moranne, Mickaël Martin, Emmanuel Héron, Aurélie Daumas, Quentin Gomes de Pinho, Bastien Jamet, Jean-Michel Serfaty, Christian Agard, and Olivier Espitia

Subjects
Anesthesiology and Pain Medicine, Rheumatology
Published
2023
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6. Autoimmune hypoglycemia expands the biological spectrum of HHV8(+) multicentric Castleman disease

Author

David Boutboul, Eric Oksenhendler, Claire Fieschi, Pierre Arnautou, Lionel Galicier, Jehane Fadlallah, Djaouida Bengoufa, Nicolas Blin, Soraya Fellahi, Corinne Vigouroux, Elias Barrak, Viviane Queyrel-Moranne, Martine Auclair, Laurence Gérard, Lucy Chaillous, Clara Bouché, Marion Malphettes, and Rémi Bertinchamp

Subjects
biology, business.industry, Castleman Disease, Autoantibody, nutritional and metabolic diseases, Hematology, Autoimmune hypoglycemia, Stimulus Report, Hypoglycemia, Insulin receptor, Insulin signal transduction pathway and regulation of blood glucose, Immunology, Herpesvirus 8, Human, biology.protein, Effective treatment, Medicine, Humans, Rituximab, Multicentric Castleman Disease, Complication, business, medicine.drug
Abstract

Key Points Autoimmune hypoglycemia belongs to the clinical spectrum of HHV8+ MCD and rituximab is an effective treatment of this condition. This rare complication is related to autoantibodies directed toward the insulin receptor and activating the insulin signaling pathway.

Published
2021

7. Scedosporiosis/lomentosporiosis observational study (SOS): Clinical significance of Scedosporium species identification

Author

Boris Melloni, Benoit Roze, Lilia Hasseine, Jacques-Olivier Bay, Laurence Delhaes, Dominique Toubas, Gaelle Guillerm, Xavier Iriart, Thomas Similowski, Valérie Letscher-Bru, Liana Carausu, Adela Angoulvant, Eric Caumes, Marie-Elisabeth Bougnoux, Yves Leprince, Taieb Chouaki, Cécile Molucon-Chabrot, Eric Dannaoui, Hervé Dutronc, Youssef El-Samad, Florent Morio, Morgane Mourguet, Alexandre Alanio, Berengere Gruson, Pierre Cahen, Stéphane Ranque, Anne Boullié, Julie Bonhomme, Violaine Noel, Françoise Dromer, Elisabeth Chachaty, Felipe Suarez, Beate Heym, François Bissuel, Cécile Jensen, Jean-Pierre Gangneux, Emmanuelle Mouchon, Philippe Zann, Patricia Mariani, Bernard Bouteille, Véronique Leflon-Guibout, Dea Garcia-Hermoso, Anne Scemla, Stéphane Blanche, Agnes Lefort, Dorothée Raoux-Barbot, Didier Bronnimann, Olivier Lortholary, Matthieu Revest, Fanny Lanternier, Philippe Poirier, Luc Quaesaet, Marie Machouart, Françoise Botterel-Chartier, Viviane Queyrel-Moranne, Thomas Perpoint, Anne De Tinteniac, Pascale Penn, Ana Presedo, Marie Balsat, Anne Huynh, Lelia Escaut, Noémie Gadaud, Antoine Huguenin, Martine Gari-Toussaint, Sophie Brun, Jean-Marie Forel, Blandine Rammaert, Nicole Desbois, Alain Delmer, Valérie Moal, Arnaud Fekkar, Damien Hoinard, Elizabeth Rivaud, Delphine Lancement, Laurence Pougnet, Valérie Zeller, Jacques Grill, Florence Pasquier, Fabrice Larosa, Jean-François Papon, Nina Arakelyan-Laboure, Thomas Daix, Catherine Cordonnier, Nicolas Limal, Patrick Lutz, Laurence Maulin, Céline Nourrisson, Stéphane Bretagne, Françoise Uettwiller, Florence Ader, Céline Dieval, Nicolas Traversier, Sophie Bayle, Sorya Belaz, Frédéric Villega, Flore Sicre De Fontbrune, Didier Poisson, Olivier Moquet, Guillaume Martin-Blondel, Kamel Laribi, Delphine Horeau-Langlard, Gilles Nevez, Stéphanie Branger, Audrey Hessel, Philippe Herman, Jérémie Orain, Emilie Catherinot, Frédéric Mechai, Cristina Audoly, Frédéric Gabriel, Jean-François Velly, Caroline Fritz, Muriel Alvarez, Romain Guillemain, Pascal Turlure, Grégoire Leclerc, Frederic Pene, Lionel Mannone, Frédéric Grenouillet, Yoann Prevot, Louis-Jean Couderc, Isabelle Degasne, Giovanna Ingenuo, Joséphine Dorin, Florence Persat, Pierre-Marie Roger, Nathalie Brieu, David Boutoille, Pierre Frange, Nicolas Paleiron, Christophe Joubert, Laurent Hustache-Mathieu, Raoul Herbrecht, Frédéric Janvier, Lenaïg Le Clech, Cécile Gautier, Joelle Guitard, Nicolas Durrleman, Romain Guery, Stéphane De Botton, Sophie Cassaing, Marine Paul, Rachel Brault, Claire Briere-Bellier, Catherine Kauffmann-Lacroix, Nicolas Engrand, Audrey Berric, Hôpital Henri Mondor, Diane Bouvry, André Paugam, CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Université Victor Segalen - Bordeaux 2, Université Paris Cité (UPCité), Mycologie moléculaire - Molecular Mycology, Institut Pasteur [Paris] (IP)-Centre National de la Recherche Scientifique (CNRS), Centre National de Référence Mycoses Invasives et Antifongiques - National Reference Center Invasive Mycoses & Antifungals (CNRMA), Institut Pasteur [Paris] (IP), Centre d'infectiologie Necker-Pasteur [CHU Necker], Institut Pasteur [Paris] (IP)-CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Centre Hospitalier du Pays d'Aix, CHU Amiens-Picardie, The National Reference Center for Invasive Mycoses and Antifungals is supported in part by Santé Publique France and Institut Pasteur., Université de Paris (UP), Centre National de la Recherche Scientifique (CNRS)-Institut Pasteur [Paris], Institut Pasteur [Paris], and Institut Pasteur [Paris]-CHU Necker - Enfants Malades [AP-HP]

Subjects
Adult, Male, medicine.medical_specialty, Antifungal Agents, Adolescent, LOMENTOSPORA PROLIFICANS, Lomentospora prolificans, Microbial Sensitivity Tests, Neutropenia, Scedosporium sp, Scedosporium, Young Adult, 03 medical and health sciences, Scedosporium species, Internal medicine, Humans, Medicine, Clinical significance, Child, Mycological Typing Techniques, scedosporiosis, Phylogeny, Fungemia, [SDV.MP.MYC]Life Sciences [q-bio]/Microbiology and Parasitology/Mycology, Aged, Retrospective Studies, 030304 developmental biology, Aged, 80 and over, 0303 health sciences, 030306 microbiology, business.industry, Infant, Newborn, Infant, Scedosporium apiospermum, General Medicine, Middle Aged, medicine.disease, cardiovascular localization, 3. Good health, Infectious Diseases, Child, Preschool, outcome, Female, Observational study, France, business, Invasive Fungal Infections
Abstract

International audience; Scedosporiosis/lomentosporiosis is a devastating emerging fungal infection. Our objective was to describe the clinical pattern and to analyze whether taxonomic grouping of the species involved was supported by differences in terms of clinical presentations or outcomes. We retrospectively studied cases of invasive scedosporiosis in France from 2005 through 2017 based on isolates characterized by polyphasic approach. We recorded 90 cases, mainly related to Scedosporium apiospermum (n = 48), S. boydii/S. ellipsoideum (n = 20), and Lomentospora prolificans (n = 14). One-third of infections were disseminated, with unexpectedly high rates of cerebral (41%) and cardiovascular (31%) involvement. In light of recent Scedosporium taxonomic revisions, we aimed to study the clinical significance of Scedosporium species identification and report for the first time contrasting clinical presentations between infections caused S. apiospermum, which were associated with malignancies and cutaneous involvement in disseminated infections, and infections caused by S. boydii, which were associated with solid organ transplantation, cerebral infections, fungemia, and early death. The clinical presentation of L. prolificans also differed from that of other species, involving more neutropenic patients, breakthrough infections, fungemia, and disseminated infections. Neutropenia, dissemination, and lack of antifungal prescription were all associated with 3-month mortality. Our data support the distinction between S. apiospermum and S. boydii and between L. prolificans and Scedosporium sp. Our results also underline the importance of the workup to assess dissemination, including cardiovascular system and brain. Lay Summary Scedosporiosis/lomentosporiosis is a devastating emerging fungal infection. Our objective was to describe the clinical pattern and to analyze whether taxonomic grouping of the species involved was supported by differences in terms of clinical presentations or outcomes.

Published
2020
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8. A decision tree for the genetic diagnosis of deficiency of adenosine deaminase 2 (DADA2): a French reference centres experience

Author

Jonathan London, Mélanie Rama, Diana Rodriguez, Florence Uettwiller, Didier Bessis, Diane Doummar, Véronique Hentgen, Emilie Carme, Alexandre Belot, Isabelle Melki, Claire Duflos, Hélène Martin, Viviane Queyrel-Moranne, Isabelle Touitou, Antonella Insalaco, Stéphanie Valence, Guillaume Sarrabay, Ketil Heimdal, David Geneviève, Sophie Georgin-Lavialle, Isabelle Koné-Paut, Nathalie Franck, A. Bonhomme, Guilaine Boursier, Nathalie Tieulie, Département de génétique médicale, maladies rares et médecine personnalisée [CHRU Montpellier], Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), CHU Montpellier, AP-HP Hôpital universitaire Robert-Debré [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), CHU Necker - Enfants Malades [AP-HP], Pathogénèse et contrôle des infections chroniques (PCCI), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre Hospitalier Universitaire de Montpellier (CHU Montpellier )-Université de Montpellier (UM), Hôpital d'Instruction des Armées Legouest, Service de Santé des Armées, CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), CHU Guy de Chaulliac, Cellules Souches, Plasticité Cellulaire, Médecine Régénératrice et Immunothérapies (IRMB), Université de Montpellier (UM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Oslo University Hospital [Oslo], IRCCS Ospedale Pediatrico Bambino Gesù [Roma], APHP, Groupe Hospitalier Cochin, Départementd’Hépatologie, Paris, France, Université de Paris - UFR Sciences Fondamentales et Biomédicales [Sciences], Université de Paris (UP), CHU Nice, Hopital l'Archet 1, Centre Hospitalier Universitaire de Nice (CHU Nice), Hôpital l'Archet, AP-HP - Hôpital Cochin Broca Hôtel Dieu [Paris], CHU Tenon [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Université Pierre et Marie Curie - Paris 6 - UFR de Médecine Pierre et Marie Curie (UPMC), Université Pierre et Marie Curie - Paris 6 (UPMC), Centre Hospitalier Lyon Sud [CHU - HCL] (CHLS), Hospices Civils de Lyon (HCL), AP-HP Hôpital Bicêtre (Le Kremlin-Bicêtre), Centre Hospitalier de Versailles André Mignot (CHV), We thank Mrs Cécile Rittore and M. Bruno Dumont for excellent technical contribution. We thank Laura Smales (http://www.biomedediting.com), for editing the manuscript for English language. The French Ministry of Health and the University Hospital of Montpellier supported this work., Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM)-Centre Hospitalier Universitaire de Montpellier (CHU Montpellier ), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Université Paris Cité - UFR Sciences Fondamentales et Biomédicales [Sciences], and Université Paris Cité (UPC)

Subjects
030203 arthritis & rheumatology, 0301 basic medicine, medicine.medical_specialty, medicine.diagnostic_test, business.industry, [SDV]Life Sciences [q-bio], Context (language use), Odds ratio, medicine.disease, Compound heterozygosity, Genetic analysis, Article, 3. Good health, Adenosine deaminase deficiency, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Internal medicine, Genotype, Genetics, medicine, business, Vasculitis, Genetics (clinical), Genetic testing
Abstract

International audience; Deficiency of adenosine deaminase 2 (DADA2) is a recently described autoinflammatory disorder. Genetic analysis is required to confirm the diagnosis. We aimed to describe the identifying symptoms and genotypes of patients referred to our reference centres and to improve the indications for genetic testing. DNA from 66 patients with clinically suspected DADA2 were sequenced by Sanger or next-generation sequencing. Detailed epidemiological, clinical and biological features were collected by use of a questionnaire and were compared between patients with and without genetic confirmation of DADA2. We identified 13 patients (19.6%) carrying recessively inherited mutations in ADA2 that were predicted to be deleterious. Eight patients were compound heterozygous for mutations. Seven mutations were novel (4 missense variants, 2 predicted to affect mRNA splicing and 1 frameshift). The mean age of the 13 patients with genetic confirmation was 12.7 years at disease onset and 20.8 years at diagnosis. Phenotypic manifestations included fever (85%), vasculitis (85%) and neurological disorders (54%). Features best associated with a confirmatory genotype included fever with neurologic or cutaneous attacks (odds ratio [OR] 10.71, p = 0.003 and OR 10.9, p

Published
2018
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9. Limited Exercise Capacity in Patients with Systemic Sclerosis: Identifying Contributing Factors with Cardiopulmonary Exercise Testing

Author

Nihal Martis, Charles-Hugo Marquette, Viviane Queyrel-Moranne, J.G. Fuzibet, Sylvie Leroy, Remi Neviere, and D. Launay

Subjects
Adult, Male, medicine.medical_specialty, Cardiac Catheterization, Tomography Scanners, X-Ray Computed, Dead space, Hypertension, Pulmonary, Immunology, Walk Test, 030204 cardiovascular system & hematology, Statistics, Nonparametric, Pulmonary function testing, Hospitals, University, 03 medical and health sciences, Ventricular Dysfunction, Left, 0302 clinical medicine, Rheumatology, DLCO, Internal medicine, Pulmonary fibrosis, medicine, Immunology and Allergy, Humans, Tidal volume, Aged, Retrospective Studies, 030203 arthritis & rheumatology, Aged, 80 and over, Exercise Tolerance, Muscle Weakness, Scleroderma, Systemic, business.industry, Pulmonary Gas Exchange, Interstitial lung disease, Middle Aged, medicine.disease, Peripheral, Surgery, Respiratory Function Tests, Dyspnea, Etiology, Cardiology, Female, France, business, Lung Diseases, Interstitial
Abstract

Objective.Exercise limitation in patients with systemic sclerosis (SSc) is often multifactorial and related to complications such as interstitial lung disease (ILD), pulmonary vasculopathy (PV), left ventricular dysfunction (LVD), and/or peripheral/muscular limitation (PML). We hypothesized that cardiopulmonary exercise testing (CPET) could not only suggest and rank competing etiologies, but also highlight peripheral impairment.Methods.Clinical, resting pulmonary function testing, and CPET data from patients with SSc referred for exercise limitation between October 2009 and November 2015 were retrospectively analyzed in this bi-center study. Patients were categorized as having ILD, PV, LVD, and/or PML based on CPET response patterns and the diagnoses were matched with results from the reference investigations. The latter consisted of transthoracic echocardiography, chest computed tomography scan, and right heart catheterization (RHC).Results.Twenty-seven patients presented with CPET profiles consistent with ILD (n = 16), PV (n = 15), LVD (n = 5), and PML (n = 19). None of the subjects had a normal CPET profile. There was a statistically significant negative correlation between resting DLCO, on the one hand, and dead space to tidal volume ratio and alveolar–arterial gradient [P(Ai-a)O2] on the other (p < 0.005). CPET identified 90% of patients with a mean pulmonary arterial pressure at rest ≥ 21 mmHg measured by RHC (n = 10). Peak P(Ai-a)O2, taken independently from other variables, was crucial in distinguishing subjects with ILD from those without ILD (p < 0.05).Conclusion.CPET is useful for the characterization of multifactorial exercise limitation in patients with SSc and in identifying SSc-related complications such as ILD and PV. This study also identifies PML as an underestimated cause of exercise limitation.

Published
2017

10. Hypofibrinogénémie induite par le tocilizumab : 7 cas

Author

Nihal Martis, Jean-Gabriel Fuzibet, Marie-Christine Zenut, David Chirio, Viviane Queyrel-Moranne, and Fanny Rocher

Subjects
030203 arthritis & rheumatology, medicine.medical_specialty, business.industry, 030204 cardiovascular system & hematology, Gastroenterology, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Tocilizumab, Rheumatology, chemistry, Internal medicine, medicine, business
Published
2018
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11. Tocilizumab-induced hypofibrinogenemia: A report of 7 cases

Author

Marie-Christine Zenut, Fanny Rocher, David Chirio, Jean-Gabriel Fuzibet, Viviane Queyrel-Moranne, and Nihal Martis

Subjects
Adult, medicine.medical_specialty, Antibodies, Monoclonal, Humanized, Risk Assessment, Drug Administration Schedule, Sampling Studies, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Tocilizumab, Age Distribution, Rheumatology, medicine, Humans, Infusions, Intravenous, Aged, 030203 arthritis & rheumatology, Dose-Response Relationship, Drug, business.industry, Incidence, Follow up studies, Fibrinogen, Joint bone, Hypofibrinogenemia, Middle Aged, Afibrinogenemia, Surgery, chemistry, 030220 oncology & carcinogenesis, Age distribution, Female, business, Follow-Up Studies
Abstract

Joint Bone Spine - In Press.Proof corrected by the author Available online since lundi 20 juin 2016

Published
2016

12. Intérêts de l'exploration fonctionnelle respiratoire d'effort dans la sclérodermie systémique: une étude rétrospective de 27 cas

Author

Martis, Nihal, Université Nice Sophia Antipolis - Faculté de Médecine (UNS UFR Médecine), Université Nice Sophia Antipolis (... - 2019) (UNS), COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-COMUE Université Côte d'Azur (2015-2019) (COMUE UCA), Sylvie Leroy, and Viviane Queyrel-Moranne

Subjects
Atteinte musculaire périphérique, Exploration fonctionnelle cardiopulmonaire d'exercice, Fibrose pulmonaire, Vasculopathie pulmonaire, Sclérodermie systémique, Échanges gazeux, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology
Abstract

Contexte : Nous avons posé l’hypothèse que l’Exploration Fonctionnelle cardio-respiratoire d’eXercice (EFX) était faisable et qu’elle pouvait identifier et analyser les mécanismes de la dyspnée chez les patients suivis pour une sclérodermie systémique (ScS).Objectif : Etudier la faisabilité et la validité des résultats de l’EFX pour évoquer une atteinte interstitielle pulmonaire (PID), une vasculopathie pulmonaire (VP), une dysfonction ventriculaire gauche (DVG) et/ou une atteinte musculaire périphérique (AMP).Méthodes :Cette étude bicentrique sur les Centres Hospitaliers Universitaires de Lille et Nice a inclus, de manière rétrospective, 27 patients sclérodermiques ayant bénéficié d’une EFX pour 1) une dyspnée inexpliquée par les explorations fonctionnelles respiratoires de repos (EFR), le scanner (TDM) thoracique, ou l’échocardiographie transthoracique ou 2) l’analyse d’une dyspnée multifactorielle. Résultats : Les anomalies de l’échangeur pulmonaire (aEP), de l’espace-mort (aEM), de la réponse cardiocirculatoire (aCC) et du transport-extraction en oxygène (aTE) orientaient respectivement vers une PID (n=16), une VP (n=15), une DVG (n=5) et une AMP (n=19). Il existait une corrélation inverse statistiquement significative entre la capacité de diffusion du monoxyde de carbone au repos et le gradient alvéolo-artériel en oxygène au pic de l’effort (pConclusion : L’EFX est un outil fiable pour le dépistage de VP et d’aEP – et montre sa supériorité par rapport aux EFR chez les patients sclérodermiques. Elle a permis de décrire le caractère multifactoriel de la dyspnée et la part importante d’aTE dans l’AMP de la ScS.

Published
2016

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