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916 results on '"Quartier A"'

3. Hereditary C1q Deficiency is Associated with Type 1 Interferon-Pathway Activation and a High Risk of Central Nervous System Inflammation

Author

Triaille, Clément, Rao, Neha Mohan, Rice, Gillian I., Seabra, Luis, Sutherland, Fraser J. H., Bondet, Vincent, Duffy, Darragh, Gennery, Andrew R., Fournier, Benjamin, Bader-Meunier, Brigitte, Troedson, Christopher, Cleary, Gavin, Buso, Helena, Dalby-Payne, Jacqueline, Ranade, Prajakta, Jansen, Katrien, De Somer, Lien, Frémond, Marie-Louise, Chavan, Pallavi Pimpale, Wong, Melanie, Dale, Russell C., Wouters, Carine, Quartier, Pierre, Khubchandani, Raju, and Crow, Yanick J.

Published
2024
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7. Incidence and risk factors for thromboembolic events in pediatric-onset inflammatory bowel disease: A French population-based study

Author

Najib, AL GHOSSAINI, Raied, AL HAMEEDI, Saria, AL TURK, Eric, AGOUTE, Matthieu, ANTOINE, Michel, ANTONIETTI, Amar, AOUAKLI, Laura, ARMENGOL-DEBEIR, Ibrahim, AROICHANE, Fadi, ASSI, Eric, AUXENFANTS, Kassem, AZZOUZI, Damyan, BANKOVSKI, Bernard, BARBRY, Nicolas, BARDOUX, Philippe, BARON, Agnès, BAUDET, Pauline, BAYART, Brice, BAZIN, Arash, BEBAHANI, Jean-Pierre, BECQWORT, Sara, BELLATI, Vincent, BENET, Houssem, BEN ALI, Coralie, BENARD, Corinne, BENGUIGUI, Emmanuel, BEN SOUSSAN, Abdeslam, BENTAL, Jacques, BERNET, Karine, BERNOU, Pauline, BERTOT, Nathalie, BERTIAUX-VANDAËLE, Valérie, BERTRAND, Emilie, BILLOUD, Nathalie, BIRON, Benjamin, BISMUTH, Cyril, BLANCHARD, Fabienne, BLONDEL, Valérie, BLONDIN, Marius, BOBULA, Philippe, BOHON, Eléonore, BOIVIN, Vanessa, BON DJEMAH, Eric, BONIFACE, Philippe, BONNIÈRE, Arnaud, BORUCHOWICZ, Médina, BOUALIT, Ahlem, BOUAZZA, Bruno, BOUCHE, Claude, BOURGEAUX, Morgane, BOURGEOIS-FUMERY, Arnaud, BOURGUET, Hamza, BOUTALEB, Alexis, BOUTHORS, Julien, BRANCHE, Frank, BRAZIER, Marie, BRIDENNE, Hélène, BRIHIER, Laura, BRIL, Maud, BRUNG-LEFEBVRE, Philippe, BULOIS, Pierre, BURGIERE, Joël, BUTEL, Valérie, CANVA-DELCAMBRE, Florence, CARDOT, Sandrine, CARETTE, Pierre, CARPENTIER, Jean-François, CASSAR, Michel, CASSAGNOU, François, CASTEX, Pascale, CATALA, Stéphane, CATTAN, Sylviane, CATTEAU, Bernard, CAUJOLLE, Cloé, CHARPENTIER, Marthe, CHAVANCE-THELU, Agathe, CHENY, Antoire, CHOTEAU, Pierre-Yves, CLERGUE, Hugues, COEVOET, Gil, COHEN, Régis, COLLET, Marie, COLIN, Jean-Frederic, COLOMBEL, Stéphanie, COOPMAN, Lucie, CORDIEZ, Jean, CORVISART, Antoine, CORTOT, Frédéric, COUTTENIER, Valérie, CROMBE, Abdelhakim, DAOUDI, Vincent, DAPVRIL, Thierry, DAVION, Sébastien, DECOSTER, Aurélien, DEJAEGER, Richard, DELCENSERIE, Marine, DELEPLANQUE, Dorothée, DELESALLE, Olivier, DELETTE, Thierry, DELGRANGE, Laurence, DELHOUSTAL, Jean-Stéphane, DELMOTTE, Sabri, DEMMANE, Guy, DEREGNAUCOURT, Pierre, DESECHALLIERS Jean, Patrick, DESMET, Pierre, DESREUMAUX, Gérard, DESSEAUX, Philippe, DESURMONT, Alain, DEVIENNE, Eve, DEVOUGE, Alex, DEVROUX, Arnaud, DEWAILLY, Sébastien, DHARANCY, Aude, Djamal-Dine, DJEDDI, Rachid, DJEDIR, Wissam, DOLEH, Laure, DREHER-DUWAT Marie, Clotilde, DUBURQUE, Frédéric, DUCROT, Philippe, DUCROTTE, André, DUFILHO, Christian, DUHAMEL, Caroline, DUMANT-FOREST, Louis, DUPAS Jean, Frédéric, DUPONT, Yves, DURANTON, Arnaud, DURIEZ, Nicolas, DUVEAU, Khalil, EL ACHKAR, Mohammadi, EL FARISI, Caroline, ELIE, Marie-Claire, ELIE-LEGRAND, Matthieu, EOCHE, Essmaeel, ESSMAEEL, Dominique, EVRARD, Jean-Paul, EVRARD, Armelle, FATOME, Laurent, FINET, Mathilde, FLAHAUT, Camille, FLAMME, David, FOISSEY, Peggy, FOURNIER, Marie-Christine, FOUTREIN-COMES, Philippe, FOUTREIN, Thierry, FRERE, Mathurin, FUMERY, Julie, GALAND, Philippe, GALLAIS, Claudine, GAMBLIN, Serge, GANGA, Romain, GERARD, Salah, GHRIB, Thierry, GILBERT, Denis, GODART, Jean-Michel, GODCHAUX, Guetty, GOEGEBEUR, Odile, GORIA, Frederic, GOTTRAND, Lucien, GRADOS, Brigitte, GRANDMAISON, Marion, GROUX, Claire, GUEDON, Loïc, GUERBEAU, Mathilde, GUEROULT-DERO, Laurence, GUILLEM, François, GUILLEMOT, Dominique, GUIMBER, Baya, HADDOUCHE, Vincent, HAUTEFEUILLE, Geneviève, HECQUET, Jean-Pierre, HEDDE, Pierre-Emmanuel, HENNERESSE, Bruno, HEYMAN, Michel, HERAUD, Sophie, HERVE, Patrick, HOCHAIN, Lucie, HOUSSIN-BAILLY, Philippe, HOUCKE, Bruno, HUGUENIN, Silviu, IOBAGIU, Shata, ISTANBOLI, Alexsandar, IVANOVIC, Isabelle, IWANICKI-CARON, Eric, JANICKI, Marine, JARRY, Charlotte, JEAN BART, Anne, JOUVENET, Fadi, KATHERIN, André, KERLEVEO, Ali, KHACHFE, Jean, KIRIAKOS, Olivier, KLEIN, Matthieu, KOHUT, Richard, KORNHAUSER, Jean-Eric, LABERENNE, Eric, LACOTTE, Guy, LAFFINEUR, Marine, LAGARDE, Anouck, LAHAYE, Arnaud, LALANNE, Ambroise, LALIEU, Pierre, LANNOY, Michel, LAPRAND, Denis, LAUDE, Rachida, LEBLANC, Stéphane, LECLEIRE, Nathalie, LECLERC, Christian, LE COUTEULX, Pascale, LEFILLIATRE, Céline, LEGRAND, Caroline, LEMAITRE, Philippe, LE MOUEL Jean, Gabriel, LEPEUT, Lucie, LEPILEUR, Elodie, LEPOUTRE-DUJARDIN, Henri, LEROI, Maryvonne, LEROY, Pauline, LE ROY, Benoit, LESAGE, Xavier, LESAGE, Jocelyn, LESAGE, Isabelle, LESCANNE-DARCHIS, Dominique, LESCUT, Bruno, LEURENT, Delphine, LEY, Louise, LIBIER, Julien, LOREAU, Alexandre, LOUVET, Joséphine, LOZINGUEZ, Henri, LUBRET, Damien, LUCIDARME, Jean-Jacques, LUGAND, Denis, MAETZ, Olivia, MANOLACHE, Anne-Bérangère, MARKS-BRUNEL, Charline, MARRE, Eric, MARZLOFF, Philippe, MATHURIN, Jacques, MAUILLON, Vincent, MAUNOURY, Michèle-Ange, MEDAM DJOMO, Chloé, MELCHIOR, Ziad, MELKI, Lofti, METHARI, Franck, MEURISSE, Laurent, MICHAUD, Patricia, MODAINE, Angélique, MONTHE, Loïk, MOREL, Mathilde, MORIN, Eugene, MORTIER Pierre, Olivier, MOUTERDE, Nicolas, MOZZICONACI, Jean, MUDRY, Maria, NACHURY, Dung, NGO Minh, Eric, N'GUYEN KHAC, Bertrand, NOTTEGHEM, Vincent, OLLEVIER, Atika, OURAGHI, Barriza, OUSSADOU, Claire, PAINCHART, Bruno, PARENT, Philippe, PATRIER, Thierry, PAUPARD, Mathieu, PAUWELS, Richard, PETIT, Muriel, PIAT, Sandrine, PIOTTE, Christophe, PLANE, Bernard, PLOUVIER, Pierre, POMMELET, Daniela, POP, Charlotte, PORDES, Gérard, POUCHAIN, Philippe, PRADES, Christophe, PREVOST Jean, Gilles, QUARTIER, Anne-Marie, QUEUNIET, Jean-François, QUINTON, Alain, RABACHE, Sébastien, RATAJCZYK, Nicole, REIX, Thibaud, RENAUT-VANTROYS, Marine, REVILLION, Ghassan, RIACHI, Clémentine, RIAULT, Nicolas, RICHARD, Cécile, RICHEZ, Benoit, RIMBERT, Daniel, RODRIGUEZ Juan, Jean-Marc, ROUX, Alain, RUDELLI, Clémence, SAINGIER, Guillaume, SAVOYE, Patrick, SCHLOSSBERG, David, SEFRIOUI, David, SEGUY, Celik, SEMINUR, Claire, SPYCKERELLE, Nathalie, TALBODEC, Noémie, TAVERNIER, Henriette, TCHANDEU, Aurore, TECHY, Henri, THIEBAULT, Jean-Marie, THOREL, Christophe, THUILLIER, Guillaume, TIELMAN, Manuela, TODE, Jean-Yves, TOUCHAIS, Pierre, TOUMELIN, Yvan, TOUZE, Léa, TRAN, Jean-Luc, TRANVOUEZ, Nadia, TRIKI, Dominique, TURCK, Justine, TURPIN, Stéphanie, UHLEN, Eric, VAILLANT, Claude, VALMAGE, Dominique, VANCO, Nathalie, VANDAELE-BERTIAUX, Hélène, VANDAMME, Etienne, VANDERBECQ, Elise, VANDER EECKEN, Philipe, VANDERMOLEN, Philippe, VANDEVENNE, Lionel, VANDEVILLE, Alain, VANDEWALLE, Jean-Pierre, VANHOOVE, Audrey, VANRENTERGHEM, Charlotte, VANVEUREN, Iona, VASIES, Guy, VERBIESE, Juliette, VERLYNDE, Gwenola, VERNIER-MASSOUILLE, Philippe, VERMELLE, Christine, VERNE, Perrine, VEZILIER-COCQ, Juliette, VIART, Benoit, VIGNERON, Marc, VINCENDET, Jean-Yves, WALLEZ, Michel, WANTIEZ, Faustine, WARTEL, Jean-Christian, WEBER, Jean-Louis, WILLOCQUET, Nathalie, WIZLA, Eric, WOLSCHIES, Oana, ZAHARIA, Sonia, ZAOUI, Alberto, ZALAR, Anne, ZELLWEGER, Richard, Nicolas, Leroyer, Ariane, Ley, Delphine, Dupont, Claire, Bertrand, Valérie, Wils, Pauline, Gower-Rousseau, Corine, Turck, Dominique, Guillon, Nathalie, Sarter, Hélène, Savoye, Guillaume, and Fumery, Mathurin

Published
2025
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8. Incidence, prevalence and clinical presentation of inflammatory bowel diseases in Northern France: a 30-year population-based studyResearch in context

Author

Hélène Sarter, Thibaut Crétin, Guillaume Savoye, Mathurin Fumery, Ariane Leroyer, Luc Dauchet, Thierry Paupard, Hugues Coevoet, Pauline Wils, Nicolas Richard, Dominique Turck, Delphine Ley, Corinne Gower-Rousseau, Eric Agoute, Najib Al Ghossaini, Raied Al Hameedi, Myriam Al Khatib, Saria Al Turk, Jean-Marie Andre, Matthieu Antoine, Michel Antonietti, Amar Aouakli, Laura Armengol-Debeir, Ibrahim Aroichane, Fadi Assi, Eric Auxenfants, Alina Avram, Kassem Azzouzi, Damyan Bankovski, Bernard Barbry, Nicolas Bardoux, Philippe Baron, Anne Baudet, Pauline Bayart, Brice Bazin, Arash Bebahani, Jean-Pierre Becqwort, Houssem Ben Ali, Emmanuel Ben Soussan, Coralie Benard, Vincent Benet, Corinne Benguigui, Abdeslam Bental, Sara Bentaleb-Bellati, Isabelle Berkelmans, Jacques Bernet, Karine Bernou, Nathalie Bertiaux-Vandaele, Pauline Bertot, Valérie Bertrand, Emilie Biloud, Nathalie Biron, Benjamin Bismuth, Cyril Blanchard, Maurice Bleuez, Fabienne Blondel, Valérie Blondin, Marius Bobula, Philippe Bohont, Eléonore Boivin, Vanessa Bon Djemah, Eric Boniface, Philippe Bonniere, Pierre Bonvarlet, Arnaud Boruchowicz, Raoul Bostvironnois, Médina Boualit, Ahlem Bouazza, Bruno Bouche, Christian Boudailler, Claude Bourgeaux, Morgane Bourgeois-Fumery, Arnaud Bourguet, Agnès Bourienne, Hamza Boutaleb, Alexis Bouthors, Julien Branche, Franck Brazier, Marie Bridenne, Hélène Brihier, Laura Bril, Philippe Bulois, Pierre Burgiere, Joël Butel, Jean-Yves Canva, Valérie Canva-Delcambre, Florence Cardot, Sandrine Carette, Pierre Carpentier, Michel Cassagnou, Jean-François Cassar, François Castex, Pascale Catala, Stéphane Cattan, Sylviane Catteau, Bernard Caujolle, Gérard Cayron, Catherine Chandelier, Cloé Charpentier, Marthe Chavance-Thelu, Agathe Cheny, Dinu Chirita, Antoine Choteau, Jean-François Claerbout, Pierre-Yves Clergue, Gil Cohen, Marie Colin, Régis Collet, Jean-Frédéric Colombel, Stéphanie Coopman, Lucie Cordiez, Antoine Cortot, Jean Corvisart, Frédéric Couttenier, Jean-François Crinquette, Valérie Crombe, Abdelhakim Daoudi, Vincent Dapvril, Thierry Davion, Sébastien Decoster, Laurent Defontaine, Nicolas Degrave, Aurélien Dejaeger, Richard Delcenserie, Marine Deleplanque, Dorothée Delesalle, Olivier Delette, Thierry Delgrange, Laurence Delhoustal, Jean-Stéphane Delmotte, Sabri Demmane, Guy Deregnaucourt, Constance Deschepper, Jean-Pierre Desechalliers, Patrick Desmet, Pierre Desreumaux, Gérard Desseaux, Philippe Desurmont, Alain Devienne, Eve Devouge, Alex Devroux, Arnaud Dewailly, Sébastien Dharancy, Aude Di Fiore, Emmanuel Diaz, Djamal-Dine Djeddi, Rachid Djedir, Wissam Doleh, Marie-Laure Dreher-Duwat, Richard Dubois, Clothilde Duburque, Frédéric Ducrot, Philippe Ducrotte, André Dufilho, Christian Duhamel, Caroline Dumant-Forest, Jean-Louis Dupas, Frédéric Dupont, Yves Duranton, Arnaud Duriez, Nicolas Duveau, Mohammadi El Farisi, Khalil El Hachkar, Caroline Elie, Marie-Claire Elie-Legrand, Matthieu Eoche, Essmaeel Essmaeel, Dominique Evrard, Jean-Paul Evrard, Armelle Fatome, Karima Fellah-Sekkai, Bernard Filoche, Laurent Finet, Mathilde Flahaut, Camille Flamme, David Foissey, Peggy Fournier, Philippe Foutrein, Marie-Christine Foutrein-Comes, Thierry Frere, Julie Galand, Philippe Gallais, Claudine Gamblin, Serge Ganga, Romain Gerard, Guillaume Geslin, Yves Gheyssens, Salah Ghrib, Thierry Gilbert, Bénédicte Gillet, Denis Godart, Jean-Michel Godchaux, Guetty Goeguebeur, Odile Goria, Frédéric Gottrand, Philippe Gower, Lucien Grados, Brigitte Grandmaison, Marion Groux, Claire Guedon, Loïc Guerbeau, Mathilde Gueroult-Dero, Jean-François Guillard, Laurence Guillem, François Guillemot, Dominique Guimber, Baya Haddouche, Vincent Hautefeuille, Philippe Hecketsweiller, Geneviève Hecquet, Jean-Pierre Hedde, Hassina Hellal, Pierre-Emmanuel Henneresse, Michel Heraud, Sophie Herve, Bruno Heyman, Patrick Hochain, Philippe Houcke, Lucie Houssin-Baillly, Bruno Huguenin, Silviu Iobagiu, Shata Istanboli, Alexsandar Ivanovic, Isabelle Iwanicki-Caron, Eric Janicki, Marine Jarry, Charlotte Jean Bart, Claude Jonas, Julia Jougon, Anne Jouvenet, Naeim Kassar, Fadi Katherin, Alfred Kerleveo, Ali Khachfe, Alfred Kiriakos, Jean Kiriakos, Olivier Klein, Matthieu Kohut, Richard Kornhauser, Demetrios Koutsomanis, Jean-Eric Laberenne, Eric Lacotte, Guy Laffineur, Marine Lagarde, Anouck Lahaye, Arnaud Lalanne, Ambroise Lalieu, Pierre Lannoy, José Lapchin, Michel Laprand, Denis Laude, Christian Le Couteulx, Charles Le Goffic, Alain Le Grix, Jean-Philippe Le Mouel, Pauline Le Roy, Rachida Leblanc, Paul Lecieux, Stéphane Lecleire, Nathalie Leclerc, Jean Ledent, Jean Lefebvre, Pascale Lefilliatre, Céline Legrand, Patrick Lelong, Bernard Leluyer, Caroline Lemaitre, Lucie Lepileur, Antoine Leplat, Elodie Lepoutre-Dujardin, Gabriel Leppeut, Henri Leroi, Maryvonne Leroy, Benoît Lesage, Jocelyn Lesage, Xavier Lesage, Isabelle Lescanne-Darchis, Dominique Lescut, Bruno Leurent, Michel Lhermie, Louise Libier, Bernard Lisambert, Isabelle Loge, Julien Loreau, Alexandre Louvet, Joséphine Lozinguez, Henri Lubrez, Damien Lucidarme, Jean-Jacques Lugand, Olivier Macaigne, Denis Maetz, Dominique Maillard, Hubert Mancheron, Olivia Manolache, Anne-Bérengère Marks-Brunel, Charline Marre, Raymond Marti, Eric Marzloff, Philippe Mathurin, Jacques Mauillon, Vincent Maunoury, Jean-Luc Maupas, Michèle-Ange Medam Djomo, Chloé Melchior, Ziad Melki, B. Mesnard, Patrice Metayer, Lofti Methari, Franck Meurisse, Laurent Michaud, Patricia Modaine, Angélique Monthe, Loïk Morel, Mathilde Morin, Pierre-Eugène Mortier, Perrine Mortreux, Olivier Mouterde, Nicolas Mozziconaci, Jean Mudry, Maria Nachuri, Minh Dung Ngo, Eric N'guyen Khac, Bertrand Notteghem, Vincent Ollevier, Atika Ouraghi, Barriza Oussadou, Dominique Ouvry, Bernard Paillot, Claire Painchart, Nicole Panien-Claudot, Christian Paoletti, Arsène Papazian, Bruno Parent, Jean-Claude Paris, Philippe Patrier, Bernard Pauwels, Mathieu Pauwels, Richard Petit, Muriel Piat, Sandrine Piotte, Christophe Plane, Bernard Plouvier, Eric Pollet, Pierre Pommelet, Daniela Pop, Charlotte Pordes, Gérard Pouchain, Philippe Prades, Jean-Christophe Prevost, Manon Pruit, Gilles Quartier, Anne-Marie Queuniet, Jean-François Quinton, Alain Rabache, Gilles Raclot, Sébastien Ratajczyk, Nicole Reix, Thibaud Renaut-Vantroys, Marine Revillion, Ghassan Riachi, Clémentine Riault, Cécile Richez, Benoît Rimbert, Philippe Robinson, Juan Daniel Rodriguez, Jean Roger, Jean-Marc Roux, Alain Rudelli, Clémence Saingier, Patrick Schlossberg, David Sefrioui, Michel Segrestin, David Seguy, Célik Seminur, François Sevenet, Jean Silvie, Claire Spyckerelle, Nathalie Talbodec, Noémie Tavernier, Henriette Tchandeu, Aurore Techy, Jean-Luc Thelu, Henri Thiebault, Jean-Marie Thorel, Christophe Thuillier, Guillaume Tielman, Manuella Tode, Jean Tonnel, Jean-Yves Touchais, Audrey Toulemonde-Huguet, Pierre Toumelin, Yvan Touze, Léa Tran, Jean-Luc Tranvouez, Nadia Triki, Justine Turpin, Eric Vaillant, Claude Valmage, Dominique Vanco, Nathalie Vandaele-Bertiaux, Hélène Vandamme, Elise Vander Eeken, Etienne Vanderbercq, Philippe Vandermollen, Philippe Vandevenne, Lionel Vandeville, Alain Vandewalle, Jean-Pierre Vanhoove, Audrey Vanrenterghem, Charlotte Vanveuren, Iona Vasies, Guy Verbiese, Juliette Verlynde, Philippe Vermelle, Christine Verne, Gwenola Vernier-Massouille, Perrine Vezelier-Cocq, Juliette Viart, Benoît Vigneron, Marc Vincendet, Jacques Viot, Y.M. Voiment, Jean-Yves Wallez, Michel Wantier, Faustine Wartel, Jean-Christian Weber, Jean-Louis Willocquet, Nathalie Wizla, Eric Wolschies, Tajiogue Yimfor, Oana Zahara, Alberto Zalar, Sonia Zaoui, and Anne Zellweger

Subjects
Inflammatory bowel disease, Incidence, Prevalence, Population-based registry, Crohn’s disease, Ulcerative colitis, Public aspects of medicine, RA1-1270
Abstract

Summary: Background: In industrialized countries, the incidence of inflammatory bowel disease (IBD) appears stabilized. This study examined the incidence and phenotype of IBD in Northern France over a 30-year period. Methods: Including all IBD patients recorded in the EPIMAD population-based registry from 1988 to 2017 in Northern France, we described the incidence and clinical presentation of IBD according to age, sex and time. Findings: A total of 22,879 incident IBD cases were documented (59% (n = 13,445) of Crohn’s disease (CD), 38% (n = 8803) of ulcerative colitis (UC), 3% (n = 631) of IBD unclassified (IBDU)). Over the study period, incidence of IBD, CD and UC was 12.7, 7.2 and 5.1 per 105 person-years, respectively. The incidence of CD increased from 5.1/105 in 1988–1990 to 7.9/105 in 2015–2017 (annual percent change (APC): +1.9%, p

Published
2024
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9. Study of the potential role of CASPASE-10 mutations in the development of autoimmune lymphoproliferative syndrome

Author

Filippo Consonni, Solange Moreno, Blanca Vinuales Colell, Marie-Claude Stolzenberg, Alicia Fernandes, Mélanie Parisot, Cécile Masson, Nathalie Neveux, Jérémie Rosain, Sarah Bamberger, Marie-Gabrielle Vigue, Marion Malphettes, Pierre Quartier, Capucine Picard, Frédéric Rieux-Laucat, and Aude Magerus

Subjects
Cytology, QH573-671
Abstract

Abstract Autoimmune lymphoproliferative syndrome (ALPS) is a primary disorder of lymphocyte homeostasis, leading to chronic lymphoproliferation, autoimmune cytopenia, and increased risk of lymphoma. The genetic landscape of ALPS includes mutations in FAS, FASLG, and FADD, all associated with apoptosis deficiency, while the role of CASP10 defect in the disease remains debated. In this study, we aimed to assess the impact of CASP10 variants on ALPS pathogenesis. We benefit from thousands of genetic analysis datasets performed in our Institute’s genetic platform to identify individuals carrying CASP10 variants previously suspected to be involved in ALPS outcome: p.C401LfsX15, p.V410I and p.Y446C, both at heterozygous and homozygous state. Clinical and laboratory features of the six included subjects were variable but not consistent with ALPS. Two individuals were healthy. Comprehensive analyses of CASP10 protein expression and FAS-mediated apoptosis were conducted and compared to healthy controls and ALPS patients with FAS mutations. Missense CASP10 variants (p.V410I and p.Y446C), which are common in the general population, did not disrupt CASP10 expression, nor FAS-mediated apoptosis. In contrast, homozygous p.C401LfsX15 CASP10 variant lead to a complete abolished CASP10 expression but had no impact on FAS-mediated apoptosis function. At heterozygous state, this p.C401LfsX15 variant lead to a reduced CASP10 protein levels but remained associated with a normal FAS-mediated apoptosis function. These findings demonstrate that CASPASE 10 is dispensable for FAS-mediated apoptosis. In consequences, CASP10 defect unlikely contribute to ALPS pathogenesis, since they did not result in an impairment of FAS-mediated apoptosis nor in clinical features of ALPS in human. Moreover, the absence of FAS expression up-regulation in subjects with CASP10 variants rule out any compensatory mechanisms possibly involved in the normal apoptosis function observed. In conclusion, this study challenges the notion that CASP10 variants contribute to the development of ALPS.

Published
2024
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10. Molecular consequences of PQBP1 deficiency, involved in the X-linked Renpenning syndrome

Author

Courraud, Jérémie, Engel, Camille, Quartier, Angélique, Drouot, Nathalie, Houessou, Ursula, Plassard, Damien, Sorlin, Arthur, Brischoux-Boucher, Elise, Gouy, Evan, Van Maldergem, Lionel, Rossi, Massimiliano, Lesca, Gaetan, Edery, Patrick, Putoux, Audrey, Bilan, Frederic, Gilbert-Dussardier, Brigitte, Atallah, Isis, Kalscheuer, Vera M., Mandel, Jean-Louis, and Piton, Amélie

Published
2024
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12. Unlocking biomedical data sharing: A structured approach with digital twins and artificial intelligence (AI) for open health sciences

Author

Claire Jean-Quartier, Sarah Stryeck, Alexander Thien, Burim Vrella, Jeremias Kleinschuster, Emil Spreitzer, Mojib Wali, Heimo Mueller, Andreas Holzinger, and Fleur Jeanquartier

Subjects
Computer applications to medicine. Medical informatics, R858-859.7
Abstract

Objective Data sharing promotes the scientific progress. However, not all data can be shared freely due to privacy issues. This work is intended to foster FAIR sharing of sensitive data exemplary in the biomedical domain, via an integrated computational approach for utilizing and enriching individual datasets by scientists without coding experience. Methods We present an in silico pipeline for openly sharing controlled materials by generating synthetic data. Additionally, it addresses the issue of inexperience to computational methods in a non-IT-affine domain by making use of a cyberinfrastructure that runs and enables sharing of computational notebooks without the need of local software installation. The use of a digital twin based on cancer datasets serves as exemplary use case for making biomedical data openly available. Quantitative and qualitative validation of model output as well as a study on user experience are conducted. Results The metadata approach describes generalizable descriptors for computational models, and outlines how to profit from existing data resources for validating computational models. The use of a virtual lab book cooperatively developed using a cloud-based data management and analysis system functions as showcase enabling easy interaction between users. Qualitative testing revealed a necessity for comprehensive guidelines furthering acceptance by various users. Conclusion The introduced framework presents an integrated approach for data generation and interpolating incomplete data, promoting Open Science through reproducibility of results and methods. The system can be expanded from the biomedical to any other domain while future studies integrating an enhanced graphical user interface could increase interdisciplinary applicability.

Published
2024
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13. Part 5: Allogeneic HSCT in refractory SJIA with lung disease; recent cases from centers in North America & Europe

Author

Alexei A. Grom, Scott W. Canna, Rolla F. Abu-Arja, Rashmi Sinha, Luciana Peixoto, Elvira Cannizzaro, Shanmuganathan Chandrakasan, Kyla Driest, Rebecca Marsh, Bénédicte Neven, Karen Onel, Sampath Prahalad, Susan Prockop, Pierre Quartier, Johannes Roth, Grant Schulert, Juliana M.F. Silva, Donna Wall, and Ulrike Zeilhofer

Subjects
Allogeneic HSCT, Refractory SJIA, SJIA-LD, MAS, HLA DRB1*15 alleles, Pediatrics, RJ1-570, Diseases of the musculoskeletal system, RC925-935
Abstract

Abstract It has been increasingly recognized that there is a subset of patients with refractory systemic JIA, who have failed all available medications and may benefit from HSCT. The increasing experience with HSCT in SJIA, suggests that despite the complicated post-HSCT course, short-term, the transplanted patients either achieved SJIA remission or reduced burden of disease. Longer follow-up, however, is needed to better define the long-term outcomes. The discussion at the NextGen 2022 conference was focused on the optimal timing for the procedure, the need for a good control of inflammatory SJIA activity prior to HSCT, and the role of the reduced intensity conditioning regimens as there was a remote concern that such regimens might increase the risk of SJIA relapse after the transplantation. There was unanimous agreement about the importance of long-term registries to address these questions.

Published
2024
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14. Clinical spectrum and outcome of Takayasu's arteritis in children

Author

Hassold, Nolan, Dusser, Perrine, Laurent, Audrey, Lemelle, Irene, Pillet, Pascal, Comarmond, Cloé, Mekinian, Arsene, Lambert, Marc, Mirault, Tristan, Benhamou, Ygal, Belot, Alexandre, Jeziorski, Eric, Reumaux, Héloïse, Sibilia, Jean, Desdoits, Alexandra, Espitia, Olivier, Faye, Albert, Quartier, Pierre, Saadoun, David, and Koné-Paut, Isabelle

Published
2024
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15. Baricitinib in juvenile idiopathic arthritis: an international, phase 3, randomised, double-blind, placebo-controlled, withdrawal, efficacy, and safety trial

Author

Viola, Diego, Spindler, Alberto, Akikusa, Jonathan, Chaitow, Jeffrey, Huemer, Christian, Dehoorne, Joke, Wouters, Carine, Lauwerys, Bernard, Boulanger, Cecile, Saad Magalhães, Claudia, Terreri, Maria, Li, Caifeng, Tang, Xuemei, Feng, Qihua, Yu, Haiguo, Zhou, Zhixuan, Dolezalova, Pavla, Horvath, Rudolf, Herlin, Troels, Glerup, Mia, Quartier Dit Maire, Pierre, Kone Paut, Isabelle, Gervais, Elisabeth, Belot, Alexandre, Name, Investigator, Horneff, Gerd, Minden, Kirsten, Trauzeddel, Ralf, Foeldvari, Ivan, Lutz, Thomas, Helling-Bakki, Astrid, Grulich-Henn, Jürgen, Kümmerle-Deschner, Jasmin, Sawhney, Sujata, Kumar, Sathish, Janarthanan, Mahesh, Amarilyo, Gil, Butbul, Yonatan, Uziel, Yosef, Tirosh, Irit, Harel, Liora, Caorsi, Roberta, Pastore, Serena, Tommasini, Alberto, Alessio, Maria, Breda, Luciana, Cattalini, Marco, Cimaz, Rolando, Giani, Teresa, Simonini, Gabriele, Filocamo, Giovanni, Umebayashi, Hiroaki, Kaneko, Utako, Kawano, Yutaka, Sato, Satoshi, Mori, Masaaki, Shimizu, Masaki, Yamaguchi, Kenichi, Ito, Shuichi, Imagawa, Tomoyuki, Inoue, Natsumi, Yokoyama, Tadafumi, Shabana, Kosuke, Ozeki, Yuka, Kawano, Yoshifumi, Yamasaki, Yuichi, Miyamae, Takako, Vega Cornejo, Gabriel, Rubio Perez, Nadina, Vargas, Edgar, Pacheco-Tena, Cesar, Edmundo Enriquez Sosa, Favio, Smolewska, Elzbieta, Zuber, Zbigniew, Gietka, Piotr, Alexeeva, Ekaterina, Nikishina, Irina, Valieva, Sania, Antón López, Jordi, Murias Loza, Sara, Maria Alcobendas Rueda, Rosa, Calvo Penades, Inmaculada, Grana, Genaro, Lucica Boteanu, Alina, Kasapcopur, Ozgur, Unsal, Erbil, Vaidyanathan Ramanan, Athimalaipet, Lacassagne, Sandrine, Hawley, Daniel, Mahmood, Kamran, Almeida, Beverley, Ramanan, Athimalaipet V, Quartier, Pierre, Okamoto, Nami, Fingerhutová, Šárka, Antón, Jordi, Wang, Zhongkai, Meszaros, Gabriella, Araújo, Joana, Liao, Ran, Keller, Stuart, Brunner, Hermine I, and Ruperto, Nicolino

Published
2023
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16. On Inhabiting Monastic Heritage: Monastery 'Nieuw Sion' in the Netherlands as Material Burden and Spiritual Opportunity

Author

Wouter Kock, Eric Venbrux, and Thomas Quartier

Subjects
re-religionization, heritagization, monasticism, spiritualization, Religions. Mythology. Rationalism, BL1-2790
Abstract

For decades, the Catholic monastic tradition has been defined by demographic decline and the closure of monasteries. And yet, new religious groups have emerged that have cultivated their own take on the monastic tradition, while old monasteries have become treasured heritage objects. In recent years, these new religious groups have started to acquire and inhabit old monasteries. It follows that simultaneous re-religionization and heritagization is taking place at these locations. This combination presents a unique opportunity to scrutinize an unexplored entanglement of religion and heritage. Although re-religionization might seem to conflict with the cultural heritage narrative surrounding these monasteries, this article presents Klooster Nieuw Sion—a new Dutch religious initiative—as a case study, indicating that these developments do not only coexist or oppose each other but are also mutually reinforcing. Drawing on our fieldwork, we explore how heritagization can offer new spiritual opportunities for religious actors within these revitalized monastic spaces.

Published
2024
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18. Strategies for mainstreaming nature-based solutions in urban governance capacities in ten European cities

Author

Katharina Hölscher, Niki Frantzeskaki, Marcus John Collier, Stuart Connop, Esmee D. Kooijman, Marleen Lodder, Siobhan McQuaid, Paula Vandergert, Dimitra Xidous, Lejla Bešlagić, Gillian Dick, Adina Dumitru, Agnieszka Dziubała, Isobel Fletcher, Cristian Garcia-Espina Adank, María González Vázquez, Natalia Madajczyk, Eleni Malekkidou, Maria Mavroudi, Eleftherios Loizou, Agnieszka Osipiuk, Belma Pasic, Antonio Prieto González, Mien Quartier, Selina Schepers, Nermina Suljević, Ivaylo Trendafilov, Katrien Van De Sijpe, Velichka Velikova, and Peter Vos

Subjects
Urbanization. City and country, HT361-384, City planning, HT165.5-169.9
Abstract

Abstract This paper explores the institutional mainstreaming of nature-based solutions (NBS) to advance a process-based understanding about how to strategically develop the governance capacities needed for systemic, localised and inclusive NBS. To this end, it reports how policy officers in ten European cities have started to mainstream NBS by interacting with and changing incumbent governance arrangements when experimenting with novel governance processes and mechanisms to plan, deliver and steward NBS. Based on these activities of the policy officers, the analysis identifies three strategies, associated stepping stones and changes in governance conditions, to mainstream NBS in governance capacities: institutionalising (a) a systems’ approach to link NBS to policies, regulations, and departments across goals and sectors, (b) inclusive collaborations for localised and inclusive interventions, and (c) reflexivity and learning about how NBS interact with the (institutional, ecological, social, etc.) contexts and create impacts. The strategies illustrate institutional entrepreneurship in interacting with incumbent governance contexts, and how starting from NBS as a type of systemic innovation can promote broader shifts in urban governance arrangements.

Published
2023
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22. Pathogenic variants in the NLRP3 LRR domain at position 861 are responsible for a boost-dependent atypical CAPS phenotype

Author

Fayand, Antoine, Cescato, Margaux, Le Corre, Laurent, Terré, Alexandre, Wacheux, Margaux, Zhu, Yixiang Y.J., Melet, Armelle, Moreau, Thomas R.J., Bodaghi, Bahram, Bonnet, Fabrice, Bronnimann, Didier, Cuisset, Laurence, Faria, Raquel, Grateau, Gilles, Pillet, Pascal, Mulders-Manders, Catharina M., Neven, Benedicte, Quartier, Pierre, Richer, Olivier, Savey, Léa, Truchetet, Marie-Elise, Py, Bénédicte F., Boursier, Guilaine, Herbeuval, Jean-Philippe, Georgin-Lavialle, Sophie, and Rodero, Mathieu P.

Published
2023
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23. A historical perspective of biomedical explainable AI research

Author

Malinverno, Luca, Barros, Vesna, Ghisoni, Francesco, Visonà, Giovanni, Kern, Roman, Nickel, Philip J., Ventura, Barbara Elvira, Šimić, Ilija, Stryeck, Sarah, Manni, Francesca, Ferri, Cesar, Jean-Quartier, Claire, Genga, Laura, Schweikert, Gabriele, Lovrić, Mario, and Rosen-Zvi, Michal

Published
2023
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24. French recommendations for the management of non-infectious chronic uveitis

Author

Abad, S., Bayen, M., Bielefeld, P., Chalumeau, M., Chiquet, C., Cohen, J.-D., Despert, V., Devilliers, H., Fardeau, C., Georgin-Lavialle, S., Guex-Crosier, Y., Guillaume Czitrom, S., Heron, E., Hofer, M., Agbo Kpati, K.P., Labalette, P., Lemelle, I., Nouar, D., Pugnet, G., Sellam, J., Sene, D., Terrier, B., Trad, G.S., Quartier, P., Saadoun, D., Belot, A., Errera, M.-H., Kaplanski, G., Kodjikian, L., Kone-Paut, I., Miceli-Richard, C., Monnet, D., Audouin-Pajot, C., Seve, P., Uettwiller, F., Weber, M., and Bodaghi, B.

Published
2023
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25. Monogenic early-onset lymphoproliferation and autoimmunity: Natural history of STAT3 gain-of-function syndrome

Author

Aleshkevich, Svetlana, Allende, Luis M., Atkinson, T. Prescott, Atschekzei, Faranaz, Aydemir, Sezin, Aygunes, Utku, Barlogis, Vincent, Baumann, Ulrich, Belko, John, Bezrodnik, Liliana, Biebl, Ariane, Broderick, Lori, Bunin, Nancy J., Caldirola, Maria Soledad, Castelle, Martin, Celmeli, Fatih, Charbonnier, Louis-Marie, Chatila, Talal A., Chellapandian, Deepak, Cokugras, Haluk, Conlon, Niall, Cox, Fionnuala, Crickx, Etienne, Dalgic, Buket, ASH Dalm, Virgil, Danielian, Silvia, Dominguez-Pinilla, Nerea, Dujovny, Tal, Ebbo, Mikael, Eken, Ahmet, Esty, Brittany, Fabre, Alexandre, Fischer, Alain, Hannibal, Mark, Huppert, Laura, Ikeda, Marc D., Jolles, Stephen, Jolly, Kent W., Jones, Neil, Kanariou, Maria, Karakoc-Aydiner, Elif, Karamantziani, Theoni, Kelaidi, Charikleia, Keogan, Mary, Pac Kisaarslan, Ayşenur, Kiykim, Ayca, Klocperk, Adam, Kotsonis, Kosmas, Kuzmenko, Natalia, Leroy, Sylvie, Lianou, Dimitra, Longhurst, Hilary, Lorenz, Myriam Ricarda, Maffucci, Patrick, Manson, Ania, Marchal, Sarah, Malphettes, Marion, Marega, Lia Furlaneto, Mauracher, Andrea A., Meesilpavikai, Kornvalee, Miller, Holly, Mombourquette, Joy, Morgan, Noel G., Mukhina, Anna, Nathalie, Aladjidi, Nelken, Brigitte, Nolan, David, Norlin, Anna-Carin, Oleastro, Matias, Ozcan, Alper, Pasquet, Marlene, Pegler, José Roberto, Picard, Capucine, Polychronopoulou, Sophia, Quartier, Pierre, Quesada, Juan Francisco, Ramakers, Jan, Randall, Katrina L., Rao, V. Koneti, Remiker, Allison, Resin, Geraldine, Richmond, Peter, Rieux-Laucat, Frederic, Rodina, Yulia, Rohrlich, Pierre, Sachs, Johnathan, Sakovich, Inga, Santarlas, Christopher, Sari, Sinan, Sawicki, Gregory, Schauer, Uwe, Scheffler Mendoza, Selma C., Schvetz, Oksana, Schmidt, Reinhold Ernst, Schwarz, Klaus, Sediva, Anna, Sinclair, Kyle, Slatter, Mary, Sleasman, John, Stergiou, Katerina, Suratannon, Narissara, Tanita, Kay, Thompson, Grace, Travis, Stephen, Trojan, Timothy, Tsinti, Maria, Unal, Ekrem, Urdinez, Luciano, Vazquez-Gomez, Felisa, Villa, Mariana, Weinrich, Michael, Weiss, Mitchell J., Wright, Benjamin, Yilmaz, Ebru, Zachova, Radana, Zhang, Yu, Leiding, Jennifer W., Vogel, Tiphanie P., Santarlas, Valentine G.J., Mhaskar, Rahul, Smith, Madison R., Carisey, Alexandre, Vargas-Hernández, Alexander, Silva-Carmona, Manuel, Heeg, Maximilian, Rensing-Ehl, Anne, Neven, Bénédicte, Hadjadj, Jérôme, Hambleton, Sophie, Ronan Leahy, Timothy, Cunningham-Rundles, Charlotte, Dutmer, Cullen M., Sharapova, Svetlana O., Taskinen, Mervi, Chua, Ignatius, Hague, Rosie, Klemann, Christian, Kostyuchenko, Larysa, Morio, Tomohiro, Thatayatikom, Akaluck, Ozen, Ahmet, Scherbina, Anna, Bauer, Cindy S., Flanagan, Sarah E., Gambineri, Eleonora, Giovannini-Chami, Lisa, Heimall, Jennifer, Sullivan, Kathleen E., Allenspach, Eric, Romberg, Neil, Deane, Sean G., Prince, Benjamin T., Rose, Melissa J., Bohnsack, John, Mousallem, Talal, Jesudas, Rohith, Santos Vilela, Maria Marluce Dos, O’Sullivan, Michael, Pachlopnik Schmid, Jana, Průhová, Štěpánka, Rees, Matthew, Su, Helen, Bahna, Sami, Baris, Safa, Bartnikas, Lisa M., Chang Berger, Amy, Briggs, Tracy A., Brothers, Shannon, Bundy, Vanessa, Chan, Alice Y., Chandrakasan, Shanmuganathan, Christiansen, Mette, Cole, Theresa, Cook, Matthew C., Desai, Mukesh M., Fischer, Ute, Fulcher, David A., Gallo, Silvanna, Gauthier, Amelie, Gennery, Andrew R., Gonçalo Marques, José, Gottrand, Frédéric, Grimbacher, Bodo, Grunebaum, Eyal, Haapaniemi, Emma, Hämäläinen, Sari, Heiskanen, Kaarina, Heiskanen-Kosma, Tarja, Hoffman, Hal M., Gonzalez-Granado, Luis Ignacio, Guerrerio, Anthony L., Kainulainen, Leena, Kumar, Ashish, Lawrence, Monica G., Levin, Carina, Martelius, Timi, Neth, Olaf, Olbrich, Peter, Palma, Alejandro, Patel, Niraj C., Pozos, Tamara, Preece, Kahn, Lugo Reyes, Saúl Oswaldo, Russell, Mark A., Schejter, Yael, Seroogy, Christine, Sinclair, Jan, Skevofilax, Effie, Suan, Daniel, Suez, Daniel, Szabolcs, Paul, Velasco, Helena, Warnatz, Klaus, Walkovich, Kelly, Worth, Austen, Seppänen, Mikko R.J., Torgerson, Troy R., Sogkas, Georgios, Ehl, Stephan, Tangye, Stuart G., Cooper, Megan A., Milner, Joshua D., and Forbes Satter, Lisa R.

Published
2023
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26. An integrated process for planning, delivery, and stewardship of urban nature-based solutions: The Connecting Nature Framework

Author

Marcus J. Collier, Niki Frantzeskaki, Stuart Connop, Gillian Dick, Adina Dumitru, Agnieszka Dziubała, Isobel Fletcher, Pauline Georgiou, Katharina Hölscher, Esmee Kooijman, Marleen Lodder, Natalia Madajczyk, Siobhan McQuaid, Caroline Nash, Agnieszka Osipiuk, Mien Quartier, Alice Reil, Mary-Lee Rhodes, Daniela Rizzi, Paula Vandergert, Katrien Van De Sijpe, Peter Vos, and Dimitra Xidous

Subjects
Nature-based solutions, Co-production, Connecting nature framework, 360 planning, Silos, Environmental sciences, GE1-350
Abstract

Mainstreaming nature-based solutions in cities has grown in scale and magnitude in recent times but is still considered to be the main challenge for transitioning our cities and their communities to be more climate resilient and liveable: environmentally, economically, and socially. Furthermore, taking nature-based solutions to the next level, and scaling them out to all urban contexts to achieve a greater impact, is proving to be slow and often conflicts with other transitioning initiatives such as energy generation, mobility and transport initiatives, and infilling to combat sprawl. So, the task is neither easy nor straightforward; there are many barriers to this novel transition, especially when it comes to collaborative approaches to implementing nature-based solutions with diverse urban communities and within city authorities themselves. This paper reports on a new process that is systematically co-produced and captured as a framework for planning nature-based solutions that emerged during the Connecting Nature project. The Connecting Nature Framework is a three-stage, iterative process that involves seven key activity areas for mainstreaming nature-based solutions: technical solutions, governance, financing and business models, nature-based enterprises, co-production, reflexive monitoring, and impact assessment. The tested and applied framework is designed to address and overcome barriers to the implementation of nature-based solutions in cities via a co-created, iterative, and reflective approach. The planning process guided by the proposed framework has already yielded promising results with some of the cities of the project, though further usage and its adoption by other cities is needed to explore its potential in different contexts especially in the Global South. The paper concludes with suggestions on how this may be realised.

Published
2023
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27. Data Stewardship – Austrian National Strategy and Alignment

Author

Alexander Bardel, Ilire Hasani-Mavriqi, Claire Jean-Quartier, Peter Schaffer, Therese Macher, Tereza Kalová, Michael Feichtinger, Monika Bargmann, Barbara Sanchez Solis, Christiane Stork, Tomasz Miksa, and Florina Piroi

Subjects
Education
Abstract

Within the FAIR Data Austria project, supported by the Federal Ministry for Education, Science, and Research (BMBWF), a national strategy has been established to advance the creation of tailored Data Stewardship solutions for the Austrian context. The strategy, formalized as a toolbox, delineates various Data Steward models, corresponding competencies, and accessible training resources. Despite the crucial role of Data Stewardship in supporting data-driven scientific research, Austrian universities encounter challenges in its implementation. Issues include lack of consensus on the skills, roles, and responsibilities of Data Stewards, coupled with insufficient funding for these positions. This article explores these challenges and emphasizes the importance of addressing them to promote effective Data Stewardship within the Austrian academic landscape.

Published
2023
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28. Fostering Open Data Practices in Research-Performing Organizations

Author

Claire Jean-Quartier, Harald Kleinberger-Pierer, Barbara Zach, Ilire Hasani-Mavriqi, Lea Pešec, and Clara Schmikl-Reiter

Subjects
open data, data management, research organization, knowledge transfer, public access, higher education institution, Communication. Mass media, P87-96, Information resources (General), ZA3040-5185
Abstract

Open data provide the scientific community and other stakeholders with unrestricted access to data. Open data serve as a foundation for reproducing research findings, while also facilitating collaboration and enabling novel discoveries. However, open data practices are still not commonly applied. To contribute to the implementation of open data strategy in academia in Austria and beyond, a collection of local strategies from regional universities and higher education institutions in the Austrian provinces of Styria and Carinthia was compiled through workshop-based discussions between participants from research support service units at research-performing organizations. The collection was further organized into categories based on application time scenarios, target groups, and involved parties, as well as corresponding thematic focus. A strategic guide consisting of various measures has been developed to encourage the adoption of open data practices from an organizational standpoint. Designed for adaptability, it aims to be applicable and modifiable by all interested research and higher education institutions, regardless of their priorities and resources. Our guideline aids research organizations in crafting a tailored strategy to enhance their data dissemination practices, thereby increasing their research visibility and impact.

Published
2024
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31. Systemic juvenile idiopathic arthritis in French Afro-Caribbean children, a retrospective cohort study

Author

A. Felix, F. Delion, B. Suzon, S. Pallara-Sirven, N. Elenga, P. Quartier, F. Louis-Sidney, M. Dramé, and Y. Hatchuel

Subjects
Systemic juvenile idiopathic arthritis, Still disease, Macrophage activation syndrome, Afro-Caribbean children, Pediatrics, RJ1-570, Diseases of the musculoskeletal system, RC925-935
Abstract

Abstract Introduction The epidemiology and clinical presentation of systemic juvenile idiopathic arthritis (sJIA) in the Afro-Caribbean population is not well described. Methods Retrospective study conducted between January 2000 and January 2022 in the French Overseas Departments of America. Clinical data were obtained from multiple sources: computerized hospital archives, registries of referring pediatricians, and the French National Registry for rare diseases. The disease studied was sJIA defined according to international criteria. Results Twenty-five patients were identified. Mean age at diagnosis was 7.5 years (range: 1.2—14.9 years) and mean duration of follow-up was 5.2 years (range: 0.5—16 years). All patients had joint involvement at diagnosis with 68% presenting inflammatory arthritis and 32% inflammatory joint pain. Sixteen percent had coronary involvement at onset. More than half (52%) suffered from macrophage activation syndrome (MAS) during childhood (32% at onset). The mean number of flares in childhood was 2 (Range: 1—5). Sixty-eight percent of patients had disease control during childhood without biotherapy. The most frequent second line treatment was anakinra (7/8). There was no difference in clinical or biological severity according to gender. The median duration of treatment during childhood was 5 months (range: 2—144) and 72% had a cumulative treatment duration of less than one year. Conclusion These patients of Afro-Caribbean origin suffering from sJIA showed some specificities, such as a higher rate of MAS and coronary involvement at onset. The incidence per year was stable over a 20-year period. Overall outcomes during childhood were similar to western countries.

Published
2022
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32. mTORC1 links pathology in experimental models of Still’s disease and macrophage activation syndrome

Author

Zhengping Huang, Xiaomeng You, Liang Chen, Yan Du, Kailey Brodeur, Hyuk Jee, Qiang Wang, Grace Linder, Roxane Darbousset, Pierre Cunin, Margaret H. Chang, Alexandra Wactor, Brian M. Wauford, Marc J. C. Todd, Kevin Wei, Ying Li, Anais Levescot, Yoichiro Iwakura, Virginia Pascual, Nicole E. Baldwin, Pierre Quartier, Tianwang Li, Maria T. Gianatasio, Robert P. Hasserjian, Lauren A. Henderson, David B. Sykes, Elizabeth D. Mellins, Scott W. Canna, Julia F. Charles, Peter A. Nigrovic, and Pui Y. Lee

Subjects
Science
Abstract

Still’s disease is an inflammatory syndrome linked to the development of further immune dysregulation and hypercytokinaemia termed macrophage activation syndrome. Here the authors implicate the mechanistic target of rapamycin complex 1 in murine models of Still’s disease and macrophage activation syndrome, and provide associations with clinical cases in patients

Published
2022
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33. Targeting the chemokine receptor CXCR4 with histamine analog to reduce inflammation in juvenile arthritis

Author

Nassima Bekaddour, Nikaïa Smith, Benoit Beitz, Alba Llibre, Tom Dott, Anne Baudry, Anne-Sophie Korganow, Sébastien Nisole, Richard Mouy, Sylvain Breton, Brigitte Bader-Meunier, Darragh Duffy, Benjamin Terrier, Benoit Schneider, Pierre Quartier, Mathieu P. Rodero, and Jean-Philippe Herbeuval

Subjects
monocytes, cytokines, arthritis, inflammation, treatment, Immunologic diseases. Allergy, RC581-607
Abstract

IntroductionAmong immune cells, activated monocytes play a detrimental role in chronic and viral-induced inflammatory pathologies, particularly in Juvenile Idiopathic Arthritis (JIA), a childhood rheumatoid arthritis (RA) disease. The uncontrolled activation of monocytes and excessive production of inflammatory factors contribute to the damage of bone-cartilage joints. Despite the moderate beneficial effect of current therapies and clinical trials, there is still a need for alternative strategies targeting monocytes to treat RA.MethodsTo explore such an alternative strategy, we investigated the effects of targeting the CXCR4 receptor using the histamine analog clobenpropit (CB). Monocytes were isolated from the blood and synovial fluids of JIA patients to assess CB's impact on their production of key inflammatory cytokines. Additionally, we administered daily intraperitoneal CB treatment to arthritic mice to evaluate its effects on circulating inflammatory cytokine levels, immune cell infiltrates, joints erosion, and bone resorption, as indicators of disease progression.ResultsOur findings demonstrated that CXCR4 targeting with CB significantly inhibited the spontaneous and induced-production of key inflammatory cytokines by monocytes isolated from JIA patients. Furthermore, CB treatment in a mouse model of collagen-induce arthritis resulted in a significant decrease in circulating inflammatory cytokine levels, immune cell infiltrates, joints erosion, and bone resorption, leading to a reduction in disease progression.DiscussionIn conclusion, targeting CXCR4 with the small amino compound CB shows promise as a therapeutic option for chronic and viral-induced inflammatory diseases, including RA. CB effectively regulated inflammatory cytokine production of monocytes, presenting a potential targeted approach with potential advantages over current therapies. These results warrant further research and clinical trials to explore the full therapeutic potential of targeting CXCR4 with CB-like molecules in the management of various inflammatory diseases.

Published
2023
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34. Iron Deficiency in Familial Mediterranean Fever: A Study on 211 Adult Patients From the JIR Cohort.

Author

Di Cola, Ilenia, Savey, Léa, Delplanque, Marion, Bourguiba, Rim, Bartoli, Alessandra, Aknouche, Zohra, Bensalek, Fatima, Kone‐Paut, Isabelle, Rossi‐Semerano, Linda, Melki, Isabelle, Bader‐Meunier, Brigitte, Ruscitti, Piero, Neven, Bénédicte, Quartier, Pierre, Boursier, Guilaine, Giurgea, Irina, Cuisset, Laurence, Grateau, Gilles, Hentgen, Véronique, and Georgin‐Lavialle, Sophie

Published
2025
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35. On Inhabiting Monastic Heritage: Monastery "Nieuw Sion" in the Netherlands as Material Burden and Spiritual Opportunity.

Author

Kock, Wouter, Venbrux, Eric, and Quartier, Thomas

Subjects
RELIGIOUS groups, MONASTERIES, CULTURE conflict, CULTURAL property, CATHOLICS
Abstract

For decades, the Catholic monastic tradition has been defined by demographic decline and the closure of monasteries. And yet, new religious groups have emerged that have cultivated their own take on the monastic tradition, while old monasteries have become treasured heritage objects. In recent years, these new religious groups have started to acquire and inhabit old monasteries. It follows that simultaneous re-religionization and heritagization is taking place at these locations. This combination presents a unique opportunity to scrutinize an unexplored entanglement of religion and heritage. Although re-religionization might seem to conflict with the cultural heritage narrative surrounding these monasteries, this article presents Klooster Nieuw Sion—a new Dutch religious initiative—as a case study, indicating that these developments do not only coexist or oppose each other but are also mutually reinforcing. Drawing on our fieldwork, we explore how heritagization can offer new spiritual opportunities for religious actors within these revitalized monastic spaces. [ABSTRACT FROM AUTHOR]

Published
2025
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36. Safety, efficacy, and tolerability of alemtuzumab in pediatric patients with active relapsing-remitting multiple sclerosis: The LemKids study.

Author

Chitnis, Tanuja, Arnold, Douglas L, Quartier, Pierre, Chirieac, Magdalena, Hu, Wenruo, Jurgensen, Stephanie, and Havrdova, Eva K

Subjects
CHILD patients, MAGNETIC resonance imaging, ALEMTUZUMAB, MULTIPLE sclerosis, MONOCLONAL antibodies
Abstract

Background: Limited licensed medications are available for multiple sclerosis (MS) in pediatric patients. Objective: To evaluate the efficacy, safety, and tolerability of alemtuzumab in pediatric patients with relapsing-remitting multiple sclerosis (RRMS) and disease activity on prior disease-modifying therapies (DMTs). Methods: LemKids was a multicenter, multinational, single-arm, open-label, switch (from ongoing DMT to alemtuzumab treatment) study in pediatric RRMS patients (aged 10–<18 years), with disease activity on DMT. The primary endpoint was a comparison of the number of new/enlarging T2 lesions on the magnetic resonance imaging of the brain between the prior-DMT period and alemtuzumab treatment. Results: This study was prematurely terminated due to low enrollment and an European Medicines Agency Article-20 pharmacovigilance review of alemtuzumab in adult RRMS. Of 46 screened patients, 16 were enrolled; 12 completed prior-DMT treatment period; 11 received alemtuzumab of whom 7 completed treatment. Patients on alemtuzumab developed fewer new/enlarging T2 lesions compared with prior-DMT (7 vs 178, relative risk (95% confidence interval): 0.04 (0.01-0.14)). No significant pharmacodynamic changes or safety concerns were noted in this limited dataset. Conclusion: Alemtuzumab treatment was associated with a low number of new/enlarging T2 lesions in pediatric patients with RRMS and was safe and well tolerated in seven patients during infusion and the initial 4 months. [ABSTRACT FROM AUTHOR]

Published
2025
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37. Hyper inflammatory syndrome following COVID-19 mRNA vaccine in children: A national post-authorization pharmacovigilance study

Author

Donzeau, Aurelie, El Aridi, Layal, Lety, Sophie, Leboucher, Bertrand, Baur, Agnes, Jeusset, Lucas, Selegny, Maelle, Fedorczuk, Cristian, Lajus, Marion, Bensaid, Philippe, Laoudi, Yacine, Pons, Charlotte, Robert, Anne-Cécile, Beaucourt, Camille, De Pontual, Loïc, Richard, Muriel, Goisque, Etienne, Iriart, Xavier, Brissaud, Olivier, Segretin, Pierre, Molimard, Julie, Orecel, Marie-Clothilde, Benoit, Gregoire, Bongiovanni, Lucille, Guerder, Margaux, Pouyau, Robin, De Guillebon De Resnes, Jean-Marie, Mezgueldi, Ellia, Cour-Andlauer, Fleur, Horvat, Come, Poinsot, Pierre, Frachette, Cecile, Ouziel, Antoine, Gillet, Yves, Barrey, Catherine, Brouard, Jacques, Villedieu, Florence, Ro, Vathanaksambath, Elanga, Narcisse, Gajdos, Vincent, Basmaci, Romain, Mutar, Hadile, Rouget, Sébastien, Nattes, Elodie, Hau, Isabelle, Biscardi, Sandra, El Jurdi, Houmam, Jung, Camille, Semama, Denis, Huet, Frederic, Zoccarato, Anne-Marie, Sarakbi, Mayssa, Mortamet, Guillaume, Bost-Bru, Cécile, Bassil, Joachim, Vinit, Caroline, Hentgen, Véronique, Leroux, Pascal, Bertrand, Valérie, Parrod, Caroline, Craiu, Irina, Kone-Paut, Isabelle, Durand, Philippe, Tissiere, Pierre, Claude, Caroline, Morelle, Guillaume, Guiddir, Tamazoust, Borocco, Charlotte, Delion, Frédérique, Guillot, Camille, Leteurtre, Stéphane, Dubos, François, Jouancastay, Mylene, Martinot, Alain, Voeusler, Valentine, Languepin, Jeanne, Garrec, Nathalie, Demersay, Arnaud Chalvon, Morand, Aurélie, Bosdure, Emmanuelle, Vanel, Noémie, Ughetto, Fabrice, Michel, Fabrice, Caujolle, Marie, Blonde, Renaud, Nguyen, Jacqueline, Vignaud, Olivier, Masserot-Lureau, Caroline, Gouraud, François, Araujo, Carine, Ingrao, Tara, Naji, Sanaa, Sehaba, Mohammed, Roche, Christine, Carbasse, Aurelia, Milesi, Christophe, Mazeghrane, Mustapha, Haupt, Sandrine, Schweitzer, Cyril, Romefort, Benedicte, Launay, Elise, Guen, Christèle Gras-Le, Ali, Ahmed, Blot, Nathalie, Tran, Antoine, Rancurel, Anne, Afanetti, Mickael, Odorico, Sophie, Talmud, Deborah, Chosidow, Anais, Romain, Anne-Sophie, Grimprel, Emmanuel, Pouletty, Marie, Gaschignard, Jean, Corseri, Olivier, Faye, Albert, Melki, Isabelle, Ducrocq, Camille, Benzoïd, Cherine, Lokmer, Johanna, Dauger, Stéphane, Chomton, Maryline, Deho, Anna, Lebourgeois, Fleur, Renolleau, Sylvain, Lesage, Fabrice, Moulin, Florence, Dupic, Laurent, Pinhas, Yael, Debray, Agathe, Chalumeau, Martin, Abadie, Véronique, Frange, Pierre, Cohen, Jeremie F, Allali, Slimane, Curtis, William, Belhadjer, Zahra, Auriau, Johanne, Méot, Mathilde, Houyel, Lucile, Bonnet, Damien, Delacourt, Christophe, Bader Meunier, Brigitte, Quartier, Pierre, Shaim, Youssef, Baril, Laurence, Crommelynck, Samuel, Jacquot, Baptiste, Blanc, Philippe, Maledon, Natacha, Robert, Blandine, Loeile, Camille, Cazau, Clémence, Loron, Gauthier, Gaga, Simona, Vittot, Cécile, El Nabhani, Loubna, Buisson, François, Prudent, Muriel, Flodrops, Hugues, Mokraoui, Fadhila, Escoda, Simon, Deschamps, Nina, Bonnemains, Laurent, Mahi, Sarah-Louisa, Mertes, Clara, Terzic, Joelle, Helms, Julie, Idier, Charlotte, Chenichene, Soraya, Magdolena Ursulescu, Nicoleta, Beaujour, Gladys, Hakim, Abdelhak, Miquel, Alice, Rey, Agnès, Wiedermann, Arnaud, Charbonneau, Anne, Veauvy-Juven, Agnès, Ferry, Alexandrine, Mandelcwajg, Alexis, Rousseau, Alix, Prenant, Amandine, Bourneuf, Anne-Laure, Filleron, Anne, Robine, Audrey, Félix, Arthur, Parizel, Aude, Labarre, Aurélie, Cantais, Aymeric, Ros, Barbara, Coulon, Basile, Biot, Blandine, Dalichoux, Bérengère, Fournier, Benjamin, Cagnard, Benoit, Vanel, Blandine, Brossier, David, Ménager, Bruno, Ozanne, Bruno, Marie-Jeanne, Carole, Bergerot, Camille, Chavy, Camille, Guidon, Camille, Fabre, Candice, Galeotti, Caroline, Baker, Catherine, Ballot-Schmit, Claire, Belleau, Céline, Charasse, Céline, Favel, Caroline, Toumi, Chadia, Ferrandiz, Charlène, Couturier, Charlotte, Pouchoux, Charlotte, Chomton-Cailliez, Maryline, Kevorkian-Verguet, Charlotte, Brunet, Clément, Manteau, Céline, Mougey, Clémence, Santy, Coline, Fitament, Coralie, Petriat, Charlotte, Rebelle, Charlotte, Charron, Cyril, Dartus, Maxime, Toulorge, David, Guillou-Debuisson, Cécile, Bartebin, Dorann, Klein, Valérie, Broustal, E, Desselas, E, Marteau, Elodie, Bouvrot, Emmanuelle, Delacroix, Elise, Coinde, Edeline, Elnabhani, Loubna, Amouyal, Elsa, Chaillou, Emilie, Gabilly-Bernard, Emeline, Ruiz, Emilie, Thibault, Emilie, Robin, Emilie, Darrieux, Etienne, Blondel, Eva, Socchi, Floriane, Cazassus, François, Bajolle, Fanny, Lacin, Fatma, Madhi, Fouad, Zekre, Franck, Guerin, François, Boussicault, Gerald, Ginies, Henri, Magloire, Gnansounou, Arnold, Guilhem, Coulognon, Ines, Sicard-Cras, Iona, Kahn, Jean-Emmanuel, Bordet, Jeanne, Fausser, Jeanne-Lise, Baleine, Jean-François, Brice, Josephine, Gendras, Julie, Pekin, Kaan, Norbert, Karine, Karsenty, Clément, Savary, Léa, Martinat, Laurence, Lesniewski, Léa, Charbonnier, Lorelei, Alexandre, Louise, Percheron, Lucas, Vincenti, Marie, Lanzini, Manon, Grisval, Margot, Mercy, Marianne, Lampin, Marie-Emilie, Desgranges, Marie, Duperril, Marie, Orcel, Marie-Clothilde, Audier, Marion, Favier, Marion, Carpentier, Mathieu, Balcean, Mathilde, Bonnet, Mathilde, Jouret, Maurine, Delattre, Marie, Levy, Michael, Valensi, Michael, Shum, Mickael, Dumortier, Morgane, Gelin, Morgane, Nemmouchi, Morgane, Williaume, Morgane, Sebaha, M, Genetay-Stanescu, Nicoleta, Giroux, Nathan, Crassard, Nicolas, Derridj, Neil, Lachaume, Noemie, Werner, Oscar, Guilluy, Olivier, Richer, Olivier, Tirel, Olivier, Pauvert, Aurianne, Casha, Paul, Perez, Noémie, Gras, Pauline, Leger, Pierre-Louis, Pinchou, Marion, Mornand, Pierre, Largo, Prisca, Ibanez, Ramona-Christina, Roulland, Charlotte, Hadah Albarazi, Salam, Bichali, Said, Faton, Sarah, Schott, Amandine, Walser, Sébastien, Guillaume, Severine, Vincent, Solene, Galene-Gromez, Sophie, Kozisek, Stanislas, Maugard, Thierry, Blanc, Thierry, Navarro, Thierry, Lauvray, Thomas, Kovacs, Tamas, Launay, Valérie, Despert, Véronique, Lhostis, Victoria, Gall, Virginie, Micaelli, Xavier, Benadjaoud, Yasmine, Matoussi, Zied, Géniaux, Hélène, Facile, Anthony, Pietri, Tessa, Palassin, Pascale, Pinel, Sylvine, Chouchana, Laurent, Callot, Delphine, Boulay, Charlène, Ouldali, Naïm, Bagheri, Haleh, Salvo, Francesco, Antona, Denise, Pariente, Antoine, Leblanc, Claire, Tebacher, Martine, Micallef, Joëlle, Levy, Corinne, Cohen, Robert, Javouhey, Etienne, Bader-Meunier, Brigitte, Ovaert, Caroline, Hentgen, Veronique, Guen, Christelle Gras-Le, Angoulvant, François, and Belot, Alexandre

Published
2022
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39. A young girl with severe polyarteritis nodosa successfully treated with tocilizumab: a case report

Author

Margaux Boistault, Mireia Lopez Corbeto, Pierre Quartier, Laura Berbel Arcobé, Ariadna Carsi Durall, and Florence A. Aeschlimann

Subjects
Polyarteritis nodosa, Child, Tocilizumab, Pediatrics, RJ1-570, Diseases of the musculoskeletal system, RC925-935
Abstract

Abstract Background Childhood Polyarteritis nodosa (PAN) is a systemic vasculitis with necrotizing inflammation of medium- and small-sized arteries. Disease evolution may be severe and refractory to standard treatment including prednisone, azathioprine and cyclophosphamide. Case presentation We present the case of a young girl with severe PAN resulting in progressive ischemia and necrosis of fingers and toes. Biological work-up revealed increased acute phase reactants and interleukin-6 levels. She was only partially controlled despite high-dose corticosteroids and cyclophosphamide infusions, and eventually achieved rapid improvement and sustained remission on tocilizumab. Further, we review the current evidence of the interleukin-6-inhibitor tocilizumab for the treatment of PAN. Conclusion Tocilizumab may be an efficient therapeutic option in a subset of treatment-refractory children with PAN.

Published
2021
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40. Clinical effectiveness and safety of baricitinib for the treatment of juvenile idiopathic arthritis-associated uveitis or chronic anterior antinuclear antibody-positive uveitis: study protocol for an open-label, adalimumab active-controlled phase 3 clinical trial (JUVE-BRIGHT)

Author

Athimalaipet V. Ramanan, Catherine M. Guly, Stuart Y. Keller, Douglas E. Schlichting, Stephanie de Bono, Ran Liao, and Pierre Quartier

Subjects
Antinuclear antibody-positive, Baricitinib, Bayesian analysis, Juvenile idiopathic arthritis, Open-label Bayesian design, Ophthalmology, Medicine (General), R5-920
Abstract

Abstract Background Juvenile idiopathic arthritis (JIA) is the most common pediatric rheumatic disease and the most common systemic disorder associated with uveitis in childhood. Uveitis is more common in JIA patients who are antinuclear antibody (ANA)-positive, have an early-onset disease, and have oligoarticular arthritis. JIA-associated uveitis (JIA-uveitis) is typically anterior, chronic, bilateral, nongranulomatous, and asymptomatic. Visual outcomes in JIA-uveitis have improved with current screening and treatment options; however, many patients fail to respond or do not achieve long-lasting remission. Baricitinib, an oral selective Janus kinase (JAK)1 and 2 inhibitor, may impact key cytokines implicated in the pathogenesis of JIA-uveitis or ANA-positive uveitis, representing a potential novel treatment option for disease management. Methods The multicenter, phase 3 trial will be conducted using an open-label Bayesian design. The study will enroll at least 20 and up to 40 patients aged 2 to

Published
2021
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42. COVID-19 outcomes in patients with inflammatory rheumatic and musculoskeletal diseases treated with rituximab: a cohort study

Author

Aeschlimann, Florence, Agard, Christian, Ait-Abdallah, Nassim, Albert, Jean-David, Alcais, Didier, Allain, Jean-Sébastien, Allanore, Yannick, Amador-Borreiro, Blanca, Amoura, Zahir, Andre, Emma, Arbault, Anaïs, Arlet, Jean-Benoît, Arnaud, Laurent, Arniaud, Denis, Arty-Hue, Herliette, Atlan, Lucie, Audemard-Verger, Alexandra, Audoin-Pajot, Christine, Audren, Victor, Bach-Bunner, Maxime, Bacquet-Deschryver, Hélène, Bader-Meunier, Brigitte, Balandraud, Nathalie, Balblanc, Jean-Charles, Bally, Stéphane, Banal, Frédéric, Barbery, Pierre, Barnetche, Thomas, Barrelet, Audre, Basch, André, Baumier, Vincent, Bayer, Guillaume, Bayle, Sophie, Beauvais, Catherine, Beinat, Rudie, Belin, Véronique, Belkhir, Rakiba, Benainous, Ruben, Belot, Alexandre, Benammar, Mohammed, Benhamou, Mathilde, Benhamou, Ygal, Benmansour, Ahmed, Bennet, Pascal, Bernoux-Manat, Brigitte, Berthet, Elise, Berthoux, Emilie, Bertolini, Ewa, Bigot, Adrien, Bisson-Vaivre, Aurélia, Blaison, Gilles, Bolla, Gilles, Bonidan, Olivier, Bonnet, Christine, Borie, Raphaël, Bossert, Marie, Boudou, Laurence, Bouhour, Françoise, Bouiller, Kévin, Bouldoires, Bastien, Boussoualim, Karima, Bouvard, Eric, Brondino, Regine, Buchlin, Pierre, Cabantous, Laurence, Cacoub, Patrice, Cadiou, Simon, Carteni, Maurizio, Carbasse, Aurélia, Castel, Brice, Cathebras, Pascal, Caumont, Hervé, Celant, Annalisa, Chaigne, Benjamin, Chaillous, Benoît, Champy, Romuald, Charcot, Agnès, Charles, Pierre, Charlot-Lambrecht, Isabelle, Charpin, Caroline, Chatelus, Emmanuel, Chaudier, Bernard, Chertok, Pascale, Chevalier, Xavier, Chevreau, Maxime, Chotard, Emilie, Chu Miow Lin, Delphine, Clavel, Gaëlle, Clavel-Osorio, Cyril, Cohen, Fleur, Cohen, Gregory, Colette-Cedoz, Marie-Eve, Collercandy, Nived, Colombey, Antoine, Comarmond, Chloé, Combe, Bernard, Comparon, Céline, Constant, Elodie, Coquerelle, Pascal, Corli, Justine, Corre, Clémence, Costedoat-Chalumeau, Nathalie, Couret, Marie, Courvoisier, Natacha, Coury-Lucas, Fabienne, Coutarel, Cécile, Coutier, Fabrice, Damade, Richard, Daver-Malaterre, Laurence, Dehimat, Sarahe, Delahousse, Michel, Barrois-Delattre, Emilie, Denarie, Delphine, Deprouw, Camille, Dernis, Emanuelle, Deroux, Alban, Desbarbieux, Renaud, Descamps, Elise, Deslandre, Chantal, Desmurs, Marie, Despaux, Jacques, Desplats, Marie, Detree, Frédérick, Devauchelle-Pensec, Valérie, Dhote, Robin, Dieude, Philippe, Dieudonne, Yannick, Diot, Elisabeth, Direz, Guillaume, Djeddi, Djamal-Dine, Douvier, Sarah, Drouet, Béatrice, Drumez, Elodie, Duc, Catherine, Ducornet, Angélique, Dufauret-Lombard, Carine, Duhamel, Alain, Dumaine, Cécile, Dumel, Anne-Elisabeth, Dumoulin-Richez, Chantal, Duquesne, Agnès, Durand, Géraldine, Durandin-Truffinet, Mariane, Duret, Pierre-Marie, Duval, Maïka, Ebbo, Mikaël, Ebstein, Esther, Economu-Dubosc, Andra, Emilie, Stéphanie, Euvrard, Romain, Evon, Philippe, Fabre, Sylvie, Fagedet, Dorothée, Farhat, Meryem, Fauconier, Marion, Fechtenbaum, Jacques, Felten, Renaud, Fernandes, Fanny, Ferreira-Maldent, Nicole, Feurer, Elodie, Fichet, Amandine, Flaisler, Françoise, Florens, Nans, Foltz, Violaine, Fontanges, Elisabeth, Foret, Jennifer, Fougerousse, Anne-Claire, Fouque-Aubert, Anne, Foutrier-Morello, Catherine, Francois-Pradier, Hélène, Frantzen, Léa, Fritz, Pierre, Froissart, Antoine, Fulpin, Jean, Fuzibet, Piera, Gaches, Francis, Gagneux-Lemoussu, Laurence, Penhoat-Gahier, Mélanie, Galland, Joris, Gandjbakhch, Frédérique, Garnier, Nicole, Garraud, Thomas, Garrot, Jean-François, Gastaldi, Romain, Gaud-Listrat, Véronique, Gauthier-Prieur, Maud, Georgescu, Dana, Gerard, Nathalie, Gervais, Elisabeth, Gibert, Christelle, Gibert, Eric, Gill, Ghislaine, Gillard, Jérôme, Gilson, Mélanie, Gimonnet, Pauline, Giraudet-Le Quintrec, Jeanine-Sophie, Giraud-Morelet, Aude, Glace, Baptiste, Glanowski, Camille, Godeau, Bertrand, Gombert, Bruno, Gonnet-Gracia, Camille, Goulenok, Tiphaine, Goupille, Philippe, Gourmelen, Olivier, Govindaraju-Audouard, Sophie, Grados, Franck, Grall-Lerosey, Martine, Grardel, Bruno, Grasland, Anne, Grateau, Gilles, Groza, Monica, Guillaud, Constance, Guillaume, Séverine, Guillibert, Caroline, Guillot, Xavier, Guilpain, Philippe, Gury, Aline, Guyot, Marie-Hélène, Hacquard-Bouder, Cécile, Havard, Marie-Noelle, Hellier, Jean-Pierre, Hennequin, Pascal, Henriot, Basile, Henry, Julien, Hentgen, Véronique, Hermet, Marion, Herasse, Muriel, Hernandez, Julie, Hie, Miguel, Hilliquin, Pascal, Hinschberger, Olivier, Hittinger-Roux, Ambre, Holubar, Jan, Hudry, Christophe, Huguenel, Serge, Jaccard, Clara, Jacquemier, Jean-Michel, Jamard, Bénédicte, Jan, Catherine, Jean, Sylvie, Jouvray, Mathieu, Juge, Pierre-Antoine, Juillard, Laurent, Jullien, Denis, Kabala, Anna, Kabchou, Abdelkrim, Karkowski, Ludovic, Karman, Françoise, Kemiche, Farid, Keraen, Jérémy, Kieffer, Pierre, Kone-Paut, Isabelle, Koreichi, Abdeldajallil, Kostine, Marie, La Batide Alanore, Sylvain, Lafforgue, Pierre, Lahalle, Sophie, Lambert, Marc, Lambrecht, Isabelle, Lanot, Sylvain, Lanteri, Aurélia, Larbre, Jean-Paul, Latourte, Augustin, Lavigne, Christian, Le Guen Guegan, Sophie, Le Guenno, Guillaume, Leguy, Diane, Lebrun, Agnès, Ledoult, Emmanuel, Legoupil, Nathalie, Legrand, Erick, Lejeune, Charlotte, Leloire, Olivier, Leroux, Christophe, Leroy, Rémi, Leroy-Gouix, Marie, Leturcq, Tifenn, Leurs, Amélie, Leveque-Michaud, Céline, Limbach, François-Xavier, Liote, Frédéric, Lohse, Anne, Lozac'h, Pierre, Lucas, Virginie, Madelon, Aurélie, Magy-Bertrand, Nadine, Mahevas, Matthieu, Maillard, Hélène, Maillet, Thibault, Malochet-Guinamand, Sandrine, Mangon, Quentin, Marchou-Lopez, Sylvie, Margarit, Nathalie, Marhadour, Thierry, Mariette, Xavier, Martin, Claire, Mathian, Alexis, Maurier, François, Maury, Frédéric, Mazet-Guillaume, Betty, Mazouyez, Arnaud, Mazyad, Hassan, Mehsen-Cetre, Nadia, Meinzer, Ulrich, Melki, Isabelle, Messer, Laurent, Miceli, Corinne, Michaud, Martin, Michel, Catherine, Michel, Matthias, Michon, Mathilde, Milesi-Lecat, Anne-Marie, Molto, Anna, Moly, Marie, Moranne, Olivier, Morel, Gautier, Morel, Hugo, Morel, Jacques, Morin, Franck, Moulinier, Laurence, Moulis, Guillaume, Moura, Bertrand, Nguyen, Minh, Nicolas-Vullierme, Sabine, Nielly, Hubert, Nocturne, Gaétane, Nottez, Aurore, Ollagnon, Henri-Olivier, Pacaud-Vitoux, Isabelle, Pagnier, Anne, Paris, Caroline, Parrot, Antoine, Pascart, Tristan, Pascaud-Mansour, Yasmina, Paulin, Lætitia, Pavy, Stephan, Perard, Laurent, Pers, Yves-Marie, Pha, Micheline, Pichon, Maud, Pierreisnard, Audrey, Pizana, Gabrielle, Poignant, Sylvaine, Poix, Elsa, Portier, Agnès, Poulet, Antoine, Plassard, Samira, Pugnet, Grégory, Puyraimond-Zemmour, Déborah, Quartier-Dit-Maire, Pierre, Quenet, Marion, Queyrel, Viviane, Raffray, Loïc, Remy, Philippe, Renard, Myriam, Rene, Jessica, Revuz, Sabine, Rey, Bénédicte, Richard-Colmant, Gaëlle, Riviere, Etienne, Riviere, Sébastien, Robin, Sophie, Rohmer, Julien, Roitg, Isabelle, Romier, Mélanie, Rolland, Michel, Roriz, Mélanie, Rosenberg, Carole, Rossi, Linda, Roth, Olivier, Rouidi, Sid-Ahmed, Roumier, Mathilde, Rousiere, Mickaël, Rousselin, Clémentine, Rouviere, Bénédicte, Roux, Christian, Roux, Fabienne, Roux, Marielle, Roux, Nicolas, Rouzaud, Diane, Rozenberg, Sylvie, Sacco, Isabelle, Sadji, Fatiha, Sailler, Laurent, Salliot, Carine, Salmon, Jean-Hugues, Saraux, Alain, Schmidt, Jean, Seguier, Julie, Sellam, Jérémie, Senbel, Eric, Sene, Thomas, Senet, Patricia, Seve, Pascal, Sicaud, Aurélie, Smets, Perrine, Sobanski, Vincent, Sordet, Christelle, Sornay-Rendu, Elisabeth, Souchaud-Debouverie, Odile, Sparsa, Lætitia, Spielmann, Lionel, Steib, Sarah, Stavris, Chloé, Straus, Catherine, Strotz, Victor, Szafors, Paulina, Taffignon-Clave, Séverine, Simoens, Justine, Theillac, Claire, Tenenbaum, Nora, Thomachot, Benoît, Tieulie, Nathalie, Tiriau, Soizic, Tison, Alice, Toussirot, Eric, Trefond, Ludovic, Trijau, Sophie, Trouillier, Sébastien, Trouvin, Anne-Priscille, Truchetet, Marie-Elise, Ulrich, Marc, Vaquier, Jacques, Veillard, Eric, Veillon, Laurent, Vial, Guillaume, Viallard, Jean-François, Victor, Judith, Vidon, Claire, Vidon, Mathias, Vigne, Camille, Virone, Alexandre, Warzocha, Ursula, Wendling, Daniel, Werle, Claude, Wibaux, Cécile, Willems, Alexandra, Wisniewski, Michel, Woessner, Juliette, Xerri-Campano, Bernadette, Avouac, Jérôme, Hachulla, Eric, Seror, Raphaèle, Georgin-Lavialle, Sophie, El Mahou, Soumaya, Pertuiset, Edouard, Pham, Thao, Marotte, Hubert, Servettaz, Amélie, Domont, Fanny, Chazerain, Pascal, Devaux, Mathilde, Claudepierre, Pascal, Langlois, Vincent, Mekinian, Arsène, Maria, Alexandre Thibault Jacques, Banneville, Béatrice, Fautrel, Bruno, Pouchot, Jacques, Thomas, Thierry, Flipo, René-Marc, and Richez, Christophe

Published
2021
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43. 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)

Author

Patrice Cacoub, Arsène Mekinian, Zahir Amoura, Eric Hachulla, Yves Allenbach, Renaud Felten, Anne-Sophie Korganow, Christelle Sordet, Aurélien Guffroy, Xavier Mariette, Christophe Richez, Jacques-Eric Gottenberg, Alain Meyer, Jean Sibilia, Benjamin Terrier, Emmanuel Chatelus, Laurence Bouillet, Marie-Elise Truchetet, Isabelle Melki, Divi Cornec, Martin Michaud, Raphaele Seror, Bénédicte Rouvière, Pierre Quartier, Sebastien Ottaviani, Julien Henry, Valérie Devauchelle-Pensec, Claire Larroche, Azeddine Dellal, Marie Desmurs, Mathieu Jouvray, Hubert Nielly, Antoine Poulet, Guillaume Vial, Roland Jaussaud, Boris Bienvenu, Pierre-Yves Jeandel, Jean-François Kleinmann, Emeline Gaigneux, Aurélie Saunier, Amelie Leurs, Aurore Chaudier, Marc Gatfosse, Vincent Andre, Gildas Baulier, Mathieu Ete, and Samira Litim-Ahmed-Yahia

Subjects
Medicine
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.

Published
2022
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44. Immunomodulatory treatment and surgical management of idiopathic uveitis and juvenile idiopathic arthritis-associated uveitis in children: a French survey practice

Author

Julie Molimard, Christine Pajot, Priscille Olle, Alexandre Belot, Pierre Quartier, Florence Uettwiller, Chloé Couret, Valentine Coste, Camille Costet, Bahram Bodaghi, Pascal Dureau, Marion Bailhache, and Pascal Pillet

Subjects
Arthritis, Juvenile, Uveitis, Immunotherapy, Cataract, Glaucoma, Pediatrics, RJ1-570, Diseases of the musculoskeletal system, RC925-935
Abstract

Abstract Background Surgeries for idiopathic uveitis and juvenile idiopathic arthritis-associated uveitis in children are complex because of the high risk of inflammatory postoperative complications. There is no consensus about treatment adaptation during the perioperative period. The objectives of this study are to report the therapeutic changes made in France and to determine whether maintaining or stopping immunosuppressive therapies is associated with an increased risk of surgical site infection or an increased risk of uveitis or arthritis flare-up. Methods We conducted a retrospective cohort study between January 1, 2006 and December 31, 2018 in six large University Hospitals in France. Inclusion criteria were chronic idiopathic uveitis or chronic uveitis associated with juvenile idiopathic arthritis under immunosuppressive therapies at the time of the surgical procedure, operated before the age of 16. Data on perioperative treatments, inflammatory relapses and post-operative infections were collected. Results A total of 76 surgeries (42% cataract surgeries, 30% glaucoma surgeries and 16% posterior capsule opacification surgeries) were performed on 37 children. Adaptation protocols were different in the six hospitals. Immunosuppressive therapies were discontinued in five cases (7%) before surgery. All the children in the discontinuation group had an inflammatory relapse within 3 months after surgery compared to only 25% in the other group. There were no postoperative infections. Conclusions The results of this study show varying practices between centres. The benefit-risk balance seems to favour maintaining immunosuppressive therapies during surgery. Further studies are needed to determine the optimal perioperative treatments required to limit post-operative inflammatory relapses.

Published
2021
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45. Improving Real-Time Trend Estimates Using Local Parametrization of Polynomial Regression Filters.

Author

Quartier-la-Tente, Alain

Subjects
*REGRESSION analysis, *TIME series analysis, *MOVING average process, *STATISTICAL software, *POLYNOMIALS
Abstract

This paper examines and compares real-time estimates of the trend-cycle component using moving averages constructed with local polynomial regression. It enables the reproduction of Henderson's symmetric and Musgrave's asymmetric filters used in the X-13ARIMA-SEATS seasonal adjustment algorithm. This paper proposes two extensions of local polynomial filters for real-time trend-cycle estimates: first including a timeliness criterion to minimize the phase shift; second with procedure for parametrizing asymmetric filters locally while they are generally parametrized globally, which can be suboptimal around turning points. An empirical comparison, based on simulated and real data, shows that modeling polynomial trends that are too complex introduces more revisions without reducing the phase shift, and that local parametrization reduces the delay in detecting turning points and reduces revisions. The results are reproducible and all the methods can be easily applied using the R package rjd3filters. [ABSTRACT FROM AUTHOR]

Published
2024
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46. TIF1-gamma IgG2 isotype is not associated with malignancy in juvenile dermatomyositis patients.

Author

Nguyen, Huong D, Jouen, Fabienne, Déchelotte, Benoit, Cordel, Nadège, Gitiaux, Cyril, Bodemer, Christine, Quartier, Pierre, Belot, Alexandre, O'Brien, Kathryn, Cancemi, Dario, Melki, Isabelle, Fabien, Nicole, Tansley, Sarah, Boyer, Olivier, Wedderburn, Lucy R, Bader-Meunier, Brigitte, and Study, UK JDM Cohort and Biomarker

Subjects
DERMATOMYOSITIS, IMMUNOGLOBULINS, AUTOANTIBODIES, TRANSCRIPTION factors, TUMORS, BIOMARKERS, CHILDREN
Abstract

The article discusses research which investigated the link between anti-transcriptional intermediary factor 1 (TIF1) gamma immunoglobulin G2 (IgG2) isotype and cancer in patients with juvenile dermatomyositis (JDM). Topics explored include the evaluation of the clinical conditions of anti-TIF1 gamma-positive patients, the anti-TIF1 gamma-IgG2 prevalence observed among ethnic groups, and the reported lack of connection between anti-TIF1 gamma-IgG2 and malignancy in concerned patients.

Published
2024
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50. De Novo Frameshift Variants in the Neuronal Splicing Factor NOVA2 Result in a Common C-Terminal Extension and Cause a Severe Form of Neurodevelopmental Disorder

Author

Mattioli, Francesca, Hayot, Gaelle, Drouot, Nathalie, Isidor, Bertrand, Courraud, Jérémie, Hinckelmann, Maria-Victoria, Mau-Them, Frederic Tran, Sellier, Chantal, Goldman, Alica, Telegrafi, Aida, Boughton, Alicia, Gamble, Candace, Moutton, Sebastien, Quartier, Angélique, Jean, Nolwenn, Van Ness, Paul, Grotto, Sarah, Nambot, Sophie, Douglas, Ganka, Si, Yue Cindy, Chelly, Jamel, Shad, Zohra, Kaplan, Elisabeth, Dineen, Richard, Golzio, Christelle, Charlet-Berguerand, Nicolas, Mandel, Jean-Louis, and Piton, Amélie

Published
2020
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