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2. The expanded French compassionate programme for elexacaftor–tezacaftor–ivacaftor use in people with cystic fibrosis without a F508del CFTR variant: a real-world study

Author

Kanaan, Reem, Carlier, Nicolas, Honoré, Isabelle, Chedevergne, Frédérique, Dreano, Elise, Hatton, Aurélie, Hinzpeter, Alexandre, Pranke, Iwona, Le Clainche-Viala, Laurence, Mayer, Sophie, Corvol, Harriet, Thouvenin, Guillaume, de Miranda, Sandra, Remus, Natascha, Douvry, Benoit, Duthoit, Louise, Perez, Thierry, Le Rouzic, Olivier, Wizla, Nathalie, Bon, Claire, Bui, Stéphanie, Poey, Nora, Stremler, Nathalie, Coltey, Bérengère, Dufeu, Nadine, Lebihan, Jean, Gabsi, Asma, Pouradier, Delphine, Andrejak, Claire, Rames, Cinthia, Dupuy-Grasset, Magali, Languepin, Jeanne, Marguet, Christophe, Pramil, Stéphanie, Arnouat, Baptiste, Fanton, Annlyse, Abely, Michel, Ravoninjatovo, Bruno, Blondé, Aurore, Guillaumot, Anne, Kieffer, Sebastien, Tatopoulos, Aurélie, Nove-Josserand, Raphaële, Ohlmann, Camille, Perrin, Thomas, Reynaud, Quitterie, Llerena, Catherine, Quétant, Sébastien, Valois, Sophie, Dalphin, Marie-Laure, Richaud-Thiriez, Bénédicte, Deneuville, Eric, Chiron, Raphael, Socchi, Floriane, Bihouée, Tiphaine, Mankikian, Julie, Flament, Thomas, Coolen-Allou, Nathalie, Gachelin, Elsa, Périsson, Caroline, Vuillard, Constance, Dupuis, Marion, Alkoussa, Wael, Marchal, Sarah, Leroy, Sylvie, Scalbert, Manuela, Campbell, Karine, Laurans, Muriel, Labbé, Guillaume, Montcouquiol, Sylvie, Priou, Pascaline, de Carli, Paola, Lemonnier, Lydie, Dehillotte, Clémence, Nouvel, Thierry, Burgel, Pierre-Régis, Sermet-Gaudelus, Isabelle, Girodon, Emmanuelle, Durieu, Isabelle, Houdouin, Véronique, Audousset, Camille, Macey, Julie, Grenet, Dominique, Porzio, Michele, Murris-Espin, Marlène, Reix, Philippe, Baravalle, Mélisande, Belleguic, Chantal, Mely, Laurent, Verhille, Juliette, Weiss, Laurence, Reynaud-Gaubert, Martine, Mittaine, Marie, Hamidfar, Rebecca, Ramel, Sophie, Cosson, Laure, Danner-Boucher, Isabelle, Foucaud, Pierre, Roy, Charlotte, Burnet, Espérie, Raynal, Caroline, Audrezet, Marie-Pierre, Da Silva, Jennifer, and Martin, Clémence

Published
2024
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3. Impact of COVID-19 infection on lung function and nutritional status amongst individuals with cystic fibrosis: A global cohort study

Author

Kasmi, Irena, Drali, Ouardia, Burghart, Sabine, Lakatos-Krepcik, Andrea, Eder, Johannes, Jaksch, Peter, Kainz, Katharina, Kallinger, Margit, Leitner, Alexander, Mozdzen, Marta, Pfleger, Andreas, Renner, Sabine, Stadlinger, Martin, Thir, Christina, Nuriyev, Emil, Boboli, Hedwige, De Wachter, Elke, Dupont, Lieven, Gohy, Sophie, Hanssens, Laurence, Knoop, Christiane, Lammertyn, Elise, Nowé, Vicky, Pirson, Jessica, Thimmesch, Matthieu, Van Braeckel, Eva, Van Hoorenbeeck, Kim, Vanderhelst, Eef, Filho, Eduardo Piacentini, Athanazio, Rodrigo Abensur, Martins, Valéria de Carvalho, Duarte, Marta Cristina, Monte, Luciana de Freitas Velloso, de Fuccio, Marcelo Bicalho, Knabben, Adriana de Siqueira Carvalho, Melloti, Roberta, Meneses, Daniela Gois, Petrova, Guergana, Tješić-Drinković, Duška, Dugac, Andrea Vukić, Bambir, Ivan, Yiallouros, Panayiotis, Bilkova, Alena, Drevinek, Pavel, Macek, Milan, Jr, Olesen, Hanne Vebert, Pressler, Tania, Fouda, Eman Mahmoud, Nasr, Samya, Weldetsadik, Abate Yeshidinber, Al-iede, Montaha, Abdrakhmanov, Olzhas, Corvol, Harriet, Lemonnier-Videau, Lydie, Abely, Michel, Piccini, Carole Bailly, Belleguic, Chantal, Bihouee, Tiphaine, Billon, Yves, Bui, Stéphanie, Camara, Boubou, Cheraud, Marie-Christine, Chiron, Raphael, Duet, Emmanuelle Coirier, Cosson, Laure, Dalphin, Marie-Laure, Boucher, Isabelle Danner, De Miranda, Sandra, Deneuville, Eric, Dubus, Jean-Christophe, Durieu, Isabelle, Epaud, Ralph, Gerardin, Michèle, Grenet, Dominique, Houdouin, Véronique, Huet, Frédéric, Reem, Kanaan, Kessler, Romain, Languepin, Jeanne, Laurans, Muriel, Leroy, Sylvie, Llerena, Cathie, Macey, Julie, Mankikian, Julie, Marguet, Christophe, Martin, Clémence, Mely, Laurent, Mittaine, Marie, Murris-Espin, Marlène, Perisson, Caroline, Prevotat, Anne, Ramel, Sophie, Rames, Cinthia, Reix, Philippe, Revillon, Marine, Reynaud-Gaubert, Martine, Richaud-Thiriez, Bénédicte, Rittie, Jean-Luc, Scalbert-Dujardin, Manuëla, Sermet-Gaudelus, Isabelle, Storni, Véronique, Tatopoulos, Aurélie, Thouvenin, Guillaume, Troussier, Françoise, Weiss, Laurence, Wizla, Nathalie, Behl, Eva-Susanne, Brinkmann, Folke, Claßen, Martin, Graepler-Mainka, Ute, Griese, Matthias, Grübl, Armin, Hammermann, Jutta, Hebestreit, Helge, Heinzmann, Andrea, Herz, Alexander, Kiefer, Alexander, Kinder, Birte, Köster, Holger, Kuhnert, Stefan, Mainz, Jochen, Mayer, Angelika, Naehrig, Susanne, Niehues, Tim, Nüßlein, Thomas, Poplawska, Krystyna, Ringshausen, Felix, Rose, Markus, Rosenecker, Josef, Ruppel, Renate, Scharschinger, Anette, Schropp, Christian, Schwarz, Carsten, Smaczny, Christina, Sommerburg, Olaf, Sutharsan, Sivagurunathan, Stolz, Simone, Thomas, Wolfgang, Wege, Sabine, Welzenbach, Britta, Wollschläger, Bettina, Diamantea, Filia, Hatziagorou, Elpis, Manika, Katerina, Cox, Des, Elnazir, Basil, Fletcher, Godfrey, Gunaratnam, Cedric, McKone, Edward F., Plant, Barry J., Cohen-Cymberknoh, Malena, Gur, Michal, Livnat, Galit, Mei-Zahav, Meir, Amato, Annalisa, Ferrari, Gianluca, Badolato, Raffaele, Poli, Piercarlo, Battistini, Fiorella, Donati, Valentina, Bignamini, Elisabetta, Folino, Anna, Carnovale, Vincenzo, Castellani, Carlo, Casciaro, Rosaria, Cimino, Giuseppe, Cipolli, Marco, Lucca, Francesca, Collura, Mirella, Ficili, Francesca, Daccò, Valeria, Gagliano, Vanessa, Pizzamiglio, Giovanna, Mencarini, Valeria, Palladino, Nicola, Leonardi, Salvatore, Rotolo, Novella, Lucanto, Maria Cristina, Quattromano, Ester, Lucidi, Vincenzina, Majo, Fabio, Alghisi, Federico, Ciciriello, Fabiana, Manca, Antonio, Leonetti, Giuseppina, Maschio, Massimo, Messore, Barbara, Pantano, Stefano, Pisi, Giovanna, Spaggiari, Cinzia, Raia, Valeria, Laezza, Caterina, Ros, Mirco, Salvatore, Donatello, Taccetti, Giovanni, Francalanci, Michela, Vitullo, Pamela, Zolin, Anna, Aleksejeva, Elina, Malakauskas, Kestutis, Misevičiene, Valdone, Charatsi, Anna-Maria, la Barrière, Hélène De, Altenburg, Josje, Bannier, Michiel, Heijerman, Harry, Janssens, Hettie, Koppelman, Gerard, van der Meer, Renske, Merkus, Peter, Nuijsink, Marianne, Terheggen, Suzanne, van der Vaart, Hester, Wesseling, Geert-Jan, de Winter, Karin, Danevska, Ivana Arnaudova, Maretti, Tatjana Jakovska, Fustik, Stojka, Dziecichowicz-Latała, Daria, Wojsyk-Banaszak, Irena, Wozniacki, Lukasz, Amorim, Adelina, Santos, Ana Sofia Araújo, Castanhinha, Susana, Gamboa, Fernanda, Silva, Teresa Reis, Gonçalves, Fabienne, Pereira, Luísa, Ciuca, Ioana, Silva, Sónia, Csilla-Enikö, Szabo, Stan, Iustina, Amelina, Elena, Boitсova, Evgeniya, Chernyavskaya, Anastasia, Gorinova, Yuliya, Krasovskiy, Stanislav, Mukhina, Maria, Sherman, Victoria, Simonova, Olga, Kondratyeva, Elena, Bérešová, Eva, Bližnáková, Nina, Kayserová, Hana, Salobir, Barbara, Šelb, Julij, Krivec, Uroš, Fernandez, Antonio José Aguilar, Fernàndez, Antonio Alvarez, García, Félix Baranda, Aparicio, Marina Blanco, Corullón, Silvia Castillo, Cortell-Aznar, Isidoro, Pérez, Inés, Colomer, Jordi Costa i, Roig, María Cols, Pecellín, Isabel Delgado, Cáceres, Layla Diab, Paredes, Carmen Luna, Gartner, Silvia, Martínez, José Ramón Gutiérrez, Labarga, Inés Herrero, Girón-Moreno, Rosa Maria, Nogueira, Esperanza Jiménez, Ferreiro, Adelaida Lamas, Neyra, Alejandro López, Castro, Enrique Blitz, Galarraga, Laura Moreno, de Vincente, Carlos Martin, Navarro, Silvia Merlos, Nieto-Royo, Rosa, Fuster, Casilda Olveira, Pastor, Maria Dolores, Pérez-Ruiz, Estela, Prados-Sánchez, Concepción, Cancelo, Isabel Ramos, de Valbuena, Marta Ruiz, Asensi, José R. Villa, Santiago, Veronica Sanz, García, Patricia Fernández, Tawfeeq, Reem Mustafa, Banki, Adrienn, Gilljam, Marita, Krantz, Christina, Lindberg, Ulrika, Lindblad, Anders, Clarenbach, Christian, Steinack, Carolin, Hage, René, Schuurmans, Macé, Fischer, Reta, Kusche, Rachel, Rochat, Isabelle, Walter, Anna-Lena, Kamalaporn, Harutai, Hamouda, Samia, Tural, Dilber Ademhan, Ozcelik, Ugur, Asfuroğlu, Pelin, Eyüboğlu, Tuğba Şişmanlar, Aslan, Ayse Tana, Bingöl, Ayşen, Çobanoğlu, Nazan, Ozcan, Gizem, Dogru, Deniz, Gökdemir, Yasemin, KÖSE, Mehmet, Pekcan, Sevgi, Cosgriff, Rebecca, Semenchuk, Julie, Naito, Yumi, Charman, Susan C., Carr, Siobhán B, Cheng, Stephanie Y., Marshall, Bruce C., Faro, Albert, Elbert, Alexander, Gutierrez, Hector H., Goss, Christopher H., Karadag, Bulent, Burgel, Pierre-Régis, Colombo, Carla, Salvatore, Marco, Padoan, Rita, Daneau, Géraldine, Harutyunyan, Satenik, Kashirskaya, Nataliya, Kirwan, Laura, Middleton, Peter G, Ruseckaite, Rasa, de Monestrol, Isabelle, Naehrlich, Lutz, Mondejar-Lopez, Pedro, Jung, Andreas, van Rens, Jacqui, Bakkeheim, Egil, Orenti, Annalisa, Zomer-van Ommen, Domenique, da Silva-Filho, Luiz Vicente RF, Fernandes, Flavia Fonseca, Zampoli, Marco, and Stephenson, Anne L.

Published
2024
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4. Recommendations for surveillance of pulmonary dysfunction among childhood, adolescent, and young adult cancer survivors: a report from the International Late Effects of Childhood Cancer Guideline Harmonization Group

Author

Otth, Maria, Kasteler, Rahel, Mulder, Renée L., Agrusa, Jennifer, Armenian, Saro H., Barnea, Dana, Bergeron, Anne, Bhatt, Neel S., Bourke, Stephen J., Constine, Louis S., Goutaki, Myrofora, Green, Daniel M., Hennewig, Ulrike, Houdouin, Veronique, Hudson, Melissa M., Kremer, Leontien, Latzin, Philipp, Ng, Antony, Oeffinger, Kevin C., Schindera, Christina, Skinner, Roderick, Sommer, Grit, Srinivasan, Saumini, Stokes, Dennis C., Versluys, Birgitta, Waespe, Nicolas, Weiner, Daniel J., Dietz, Andrew C., and Kuehni, Claudia E.

Published
2024
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5. Long-term evolution of neuroendocrine cell hyperplasia of infancy: the FRENCHI findings

Author

Dervaux, Morgane, Thumerelle, Caroline, Fabre, Candice, Abou-Taam, Rola, Bihouee, Tiphaine, Brouard, Jacques, Clement, Annick, Delacourt, Christophe, Delestrain, Céline, Epaud, Ralph, Ghdifan, Sofiane, Hadchouel, Alice, Houdouin, Véronique, Labouret, Géraldine, Perisson, Caroline, Reix, Philippe, Renoux, Marie-Catherine, Troussier, Françoise, Weiss, Laurence, Mazenq, Julie, Nathan, Nadia, and Dubus, Jean-Christophe

Published
2023
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6. French national cohort of neuroendocrine cell hyperplasia of infancy (FRENCHI) study: diagnosis and initial management

Author

Fabre, Candice, Thumerelle, Caroline, Dervaux, Morgane, Abou-Taam, Rola, Bihouee, Tiphaine, Brouard, Jacques, Clement, Annick, Delacourt, Christophe, Delestrain, Céline, Epaud, Ralph, Ghdifan, Sofiane, Hadchouel, Alice, Houdouin, Véronique, Labouret, Géraldine, Perisson, Caroline, Reix, Philippe, Renoux, Marie-Catherine, Troussier, Françoise, Weiss, Laurence, Mazenq, Julie, Nathan, Nadia, and Dubus, Jean-Christophe

Published
2022
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8. The expanded French compassionate programme for elexacaftor–tezacaftor–ivacaftor use in people with cystic fibrosis without a F508del CFTR variant: a real-world study.

Author

Burgel, Pierre-Régis, Sermet-Gaudelus, Isabelle, Girodon, Emmanuelle, Durieu, Isabelle, Houdouin, Véronique, Audousset, Camille, Macey, Julie, Grenet, Dominique, Porzio, Michele, Murris-Espin, Marlène, Reix, Philippe, Baravalle, Mélisande, Belleguic, Chantal, Mely, Laurent, Verhille, Juliette, Weiss, Laurence, Reynaud-Gaubert, Martine, Mittaine, Marie, Hamidfar, Rebecca, and Ramel, Sophie

Subjects
CYSTIC fibrosis, CYSTIC fibrosis transmembrane conductance regulator, LUNGS, CHLORIDES, PERCENTILES
Abstract

Elexacaftor–tezacaftor–ivacaftor has been approved in Europe for people with cystic fibrosis with at least one F508del CFTR variant. Additionally, it is approved by the US Food and Drug Administration (FDA) for people with cystic fibrosis with at least one of 177 rare variants. The aims of this study were to describe the clinical response to elexacaftor–tezacaftor–ivacaftor for people with cystic fibrosis without a F508del CFTR variant in France and to determine CFTR variant responsiveness to elexacaftor–tezacaftor–ivacaftor based on the observed clinical response. The French compassionate programme expanded access to elexacaftor–tezacaftor–ivacaftor to people with cystic fibrosis, aged 6 years and older, without a F508del variant, excluding those with two variants previously characterised as non-responsive. Participants at France's 47 cystic fibrosis centres were given a 4–6 week trial of elexacaftor–tezacaftor–ivacaftor and response was determined by a centralised committee based on evolution of clinical data, lung function, and sweat chloride concentration. Responsiveness of individual CFTR variants was derived from observed clinical responses. The first compassionnate programme was launched on May 19, 2022; by March 8, 2024, 516 people with cystic fibrosis had been identified for inclusion in this real-word study: 37 were not included due to the presence of two variants previously characterised as non-responsive to elexacaftor–tezacaftor–ivacaftor, and 479 (229 females [48%] and 250 males [52%]) received elexacaftor–tezacaftor–ivacaftor for 4–6 weeks. Among 443 participants who received no CFTR modulator before elexacaftor–tezacaftor–ivacaftor, 83 had at least one FDA-approved variant, of whom 81 (98%) were responders and continued elexacaftor–tezacaftor–ivacaftor; in responders, mean absolute change in sweat chloride was –44·5 mmol/L (95% CI –39·1 to –49·8) and percentage of predicted FEV 1 (ppFEV 1) was 11·1 percentage points (95% CI 8·4 to 13·7; both comparisons p<0·0001). Among 360 participants with no FDA-approved variant and no previous CFTR modulator, 177 (49%) were responders; in responders, mean absolute change in sweat chloride was –20·5 mmol/L (–17·2 to –23·8) and ppFEV 1 was 13·2 percentage points (11·4 to 15·0; both comparisons p<0·0001). Among 36 participants who were receiving ivacaftor before elexacaftor–tezacaftor–ivacaftor, 32 (89%) continued elexacaftor–tezacaftor–ivacaftor. Of 251 individual CFTR variants, 64 (28 FDA-approved) were classified as responsive or possibly responsive to elexacaftor–tezacaftor–ivacaftor, and 123 (two FDA-approved) as non-responsive or possibly non-responsive to elexacaftor–tezacaftor–ivacaftor. In France, over half of the population with cystic fibrosis without a F508del variant responded to elexacaftor–tezacaftor–ivacaftor, with most responders having no FDA-approved variant. The treatment period was relatively short and further research is warranted to describe the long-term safety and effectiveness of elexacaftor–tezacaftor–ivacaftor in this population. Association Vaincre la Mucoviscidose, Société Française de la Mucoviscidose, and Filière Maladies Rares MUCO-CFTR. [ABSTRACT FROM AUTHOR]

Published
2024
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9. Evaluation of prognostic scores for respiratory syncytial virus infection in a French multicentre cohort of allogeneic haematopoietic stem cell transplantation recipients

Author

Houist, Anne-Laure, Bondeelle, Louise, Salmona, Maud, LeGoff, Jérôme, de Latour, Régis Peffault, Rivière, Frédéric, Soler, Charles, Houdouin, Véronique, Dalle, Jean-Hugues, Robin, Christine, Fourati, Slim, Griscelli, Franck, Coman, Tereza, Chevret, Sylvie, and Bergeron, Anne

Published
2021
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10. The expanded French compassionate programme for elexacaftor–tezacaftor–ivacaftor use in people with cystic fibrosis without a F508del CFTRvariant: a real-world study

Author

Burgel, Pierre-Régis, Sermet-Gaudelus, Isabelle, Girodon, Emmanuelle, Durieu, Isabelle, Houdouin, Véronique, Audousset, Camille, Macey, Julie, Grenet, Dominique, Porzio, Michele, Murris-Espin, Marlène, Reix, Philippe, Baravalle, Mélisande, Belleguic, Chantal, Mely, Laurent, Verhille, Juliette, Weiss, Laurence, Reynaud-Gaubert, Martine, Mittaine, Marie, Hamidfar, Rebecca, Ramel, Sophie, Cosson, Laure, Douvry, Benoit, Danner-Boucher, Isabelle, Foucaud, Pierre, Roy, Charlotte, Burnet, Espérie, Raynal, Caroline, Audrezet, Marie-Pierre, Da Silva, Jennifer, Martin, Clémence, Kanaan, Reem, Carlier, Nicolas, Honoré, Isabelle, Chedevergne, Frédérique, Dreano, Elise, Hatton, Aurélie, Hinzpeter, Alexandre, Pranke, Iwona, Le Clainche-Viala, Laurence, Mayer, Sophie, Corvol, Harriet, Thouvenin, Guillaume, de Miranda, Sandra, Remus, Natascha, Douvry, Benoit, Duthoit, Louise, Perez, Thierry, Le Rouzic, Olivier, Wizla, Nathalie, Bon, Claire, Bui, Stéphanie, Poey, Nora, Stremler, Nathalie, Coltey, Bérengère, Dufeu, Nadine, Lebihan, Jean, Gabsi, Asma, Pouradier, Delphine, Andrejak, Claire, Rames, Cinthia, Dupuy-Grasset, Magali, Languepin, Jeanne, Marguet, Christophe, Pramil, Stéphanie, Arnouat, Baptiste, Fanton, Annlyse, Abely, Michel, Ravoninjatovo, Bruno, Blondé, Aurore, Guillaumot, Anne, Kieffer, Sebastien, Tatopoulos, Aurélie, Nove-Josserand, Raphaële, Ohlmann, Camille, Perrin, Thomas, Reynaud, Quitterie, Llerena, Catherine, Quétant, Sébastien, Valois, Sophie, Dalphin, Marie-Laure, Richaud-Thiriez, Bénédicte, Deneuville, Eric, Chiron, Raphael, Socchi, Floriane, Bihouée, Tiphaine, Mankikian, Julie, Flament, Thomas, Coolen-Allou, Nathalie, Gachelin, Elsa, Périsson, Caroline, Vuillard, Constance, Dupuis, Marion, Alkoussa, Wael, Marchal, Sarah, Leroy, Sylvie, Scalbert, Manuela, Campbell, Karine, Laurans, Muriel, Labbé, Guillaume, Montcouquiol, Sylvie, Priou, Pascaline, de Carli, Paola, Lemonnier, Lydie, Dehillotte, Clémence, and Nouvel, Thierry

Abstract

Elexacaftor–tezacaftor–ivacaftor has been approved in Europe for people with cystic fibrosis with at least one F508del CFTRvariant. Additionally, it is approved by the US Food and Drug Administration (FDA) for people with cystic fibrosis with at least one of 177 rare variants. The aims of this study were to describe the clinical response to elexacaftor–tezacaftor–ivacaftor for people with cystic fibrosis without a F508del CFTRvariant in France and to determine CFTRvariant responsiveness to elexacaftor–tezacaftor–ivacaftor based on the observed clinical response.

Published
2024
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11. Gathering real-world compassionate data to expand eligibility for elexacaftor/tezacaftor/ivacaftor in people with cystic fibrosis with N1303K or other rareCFTRvariants: a viewpoint

Author

Burgel, Pierre-Régis, primary, Sermet-Gaudelus, Isabelle, additional, Girodon, Emmanuelle, additional, Kanaan, Reem, additional, Le Bihan, Jean, additional, Remus, Natascha, additional, Ravoninjatovo, Bruno, additional, Grenet, Dominique, additional, Porzio, Michele, additional, Houdouin, Véronique, additional, Le Clainche-Viala, Laurence, additional, Durieu, Isabelle, additional, Nove-Josserand, Raphaele, additional, Languepin, Jeanne, additional, Coltey, Bérangère, additional, Guillaumot, Anne, additional, Audousset, Camille, additional, Chiron, Raphaël, additional, Weiss, Laurence, additional, Fajac, Isabelle, additional, Da Silva, Jennifer, additional, and Martin, Clémence, additional

Published
2024
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14. Behavioural and sleep issues after initiation of elexacaftor–tezacaftor–ivacaftor in preschool-age children with cystic fibrosis

Author

Barboura, Mahassen, Barzic, Audrey, Benhalla, Lilia, Bennour, Khadidja, Bessaci, Katia, Bessou, Antoine, Bihouee, Thiphaine, Bonnel, Anne-Sophie, Bouleghem, Nesrine, Bui, Stéphanie, Chedevergne, Frédérique, Corvol, Harriet, Cosson, Laure, Couderc, Laure, Dalphin, Marie-Laure, De carli, Paola, Deneuville, Eric, Foucaud, Pierre, Gabsi, Asma, Gachelin, Elsa, Hassani, Fatiha, Houdouin, Veronique, Huet, Frédéric, Jamin, Marie, Kaba, Kadiatou, Labbe, Guillaume, Languepin, Jane, Laurans, Muriel, Lerena, Cathy, Letierce, Alexia, Livrozet, Clotilde, Marguet, Christophe, Mely, Laurent, Messaoudi, Rania, Mittaine, Marie, Perisson, Caroline, Piccini-bailly, Carole, Reix, Philippe, Remus, Natascha, Ronayette, Anna, Sahki, Djouher, Scalbert, Manuela, Sermet-Gaudelus, Isabelle, Socchi, Floriane, Stremler, Nathalie, Tatopoulos, Aurélie, Thouvenin, Guillaume, Troussier, Françoise, Weiss, Laurence, Wizla, Nathalie, Sermet-Gaudelus, I, Benaboud, Sihem, Bihouée, Tiphaine, and Gautier, Sophie

Published
2024
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16. Heterogeneity of lung disease associated with NK2 homeobox 1 mutations

Author

Nattes, Elodie, Lejeune, Stephanie, Carsin, Ania, Borie, Raphael, Gibertini, Isabelle, Balinotti, Juan, Nathan, Nadia, Marchand-Adam, Sylvain, Thumerelle, Caroline, Fauroux, Brigitte, Bosdure, Emmanuelle, Houdouin, Veronique, Delestrain, Celine, Louha, MaleK., Couderc, Remy, De Becdelievre, Alix, Fanen, Pascale, Funalot, Benoit, Crestani, Bruno, Deschildre, Antoine, Dubus, Jean-Christophe, and Epaud, Ralph

Published
2017
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17. Long-term evolution of neuroendocrine cell hyperplasia of infancy: the FRENCHI findings

Author

Dervaux, Morgane, Thumerelle, Caroline, Fabre, Candice, Abou-Taam, Rola, Bihouee, Tiphaine, Brouard, Jacques, Clement, Annick, Delacourt, Christophe, Delestrain, Céline, Epaud, Ralph, Ghdifan, Sofiane, Hadchouel, Alice, Houdouin, Véronique, Labouret, Géraldine, Perisson, Caroline, Reix, Philippe, Renoux, Marie-Catherine, Troussier, Françoise, Weiss, Laurence, Mazenq, Julie, Nathan, Nadia, Dubus, Jean-Christophe, Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Hôpital de la Timone [CHU - APHM] (TIMONE), CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Centre hospitalier universitaire de Nantes (CHU Nantes), CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Institut Mondor de Recherche Biomédicale (IMRB), Institut National de la Santé et de la Recherche Médicale (INSERM)-IFR10-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Centre Hospitalier Intercommunal de Créteil (CHIC), Département de pneumologie pédiatrique [CHU Créteil] (RespiRare), Centre Hospitalier Universitaire de Lille (CHU de Lille), Centre de ressources et de compétences pour la mucoviscidose [Debré], AP-HP Hôpital universitaire Robert-Debré [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Université Paris Cité (UPCité), Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), CHU Sud Saint Pierre [Ile de la Réunion], Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM), Hôpital de Hautepierre [Strasbourg], Maladies génétiques d'expression pédiatrique (U933), Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Microbes évolution phylogénie et infections (MEPHI), Institut de Recherche pour le Développement (IRD)-Aix Marseille Université (AMU)-Centre National de la Recherche Scientifique (CNRS), and Service de pédiatrie multidisciplinaire [Hôpital de la Timone Enfants - APHM]

Subjects
Neuroendocrine cell hyperplasia of infancy, Follow-up, [SDV]Life Sciences [q-bio], Childhood interstitial lung disease, Pediatrics, Perinatology and Child Health, Cohort
Abstract

Only few studies report long-term evolution of patients with neuroendocrine cell hyperplasia of infancy (NEHI). We report data from a 54-patient cohort followed up in the French network for rare respiratory diseases (RespiRare). Demographic characteristics and respiratory and nutritional evolution were collected at the time of the patient's last scheduled visit. The mean duration of follow-up was 68 months (5 months to 18 years). Fifteen patients (27.8%) were considered clinically cured. During follow-up, hospitalizations for wheezy exacerbations were reported in 35 patients (55%), and asthma diagnosed in 20 (37%). Chest CT scan improvement was noted in 25/44 (56.8%). Spirometry showed a persistent obstructive syndrome in 8/27 (29.6%). A sleep disorder was rare (2/36, 5.5%). Oxygen weaning occurred in 28 of the 45 patients initially treated (62.2%) and was age-dependent (35.7% under 2 years, 70.5% between 2 and 6 years, and 100% after 7 years). Oxygen duration was linked to a biopsy-proven diagnosis (p = 0.02) and to the use of a nutritional support (p = 0.003). Corticosteroids were largely prescribed at diagnosis, with no evident respiratory or nutritional effect during follow-up. Among 23 patients with an initial failure to thrive, 12 (52.2%) had no weight recovery. Initial enteral feeding (17/54, 31.5%) was stopped at a mean age of 43 months (3 to 120), with no effect on cure and oxygen liberation at the last visit. Conclusion: Our results show that NEHI has a globally positive, but unequal, improvement over time. Further prospective studies are needed to better clarify the different trajectories of patients with NEHI. What is Known: • Neuroendocrine cell hyperplasia of infancy (NEHI) is an interstitial lung disease whose long-term outcome is considered positive from very few studies including heterogeneous populations. What is New: • The 68-month follow-up of our 54-patient cohort showed respiratory/nutritional symptom persistence in 72.2%, oxygen requiring in 34%, and asthma in 37%. When controlled, radiological or functional improvement was noted in 56.8 and 40.7%. Further prospective studies are needed to better clarify the different trajectories of patients with NEHI.

Published
2022

18. Epidemiology of childhood interstitial lung disease in France: the RespiRare cohort

Author

Fletcher, Camille, Hadchouel, Alice, Thumerelle, Caroline, Mazenq, Julie, Fleury, Manon, Corvol, Harriet, Jedidi, Nouha, Benhamida, Myriam, Bessaci, Katia, Bilhouee, Tiphaine, Borie, Raphael, Brouard, Jacques, Cantais, Aurélie, Clement, Annick, Coutier, Laurianne, Cisterne, Camille, Cros, Pierrick, Dalphin, Marie-Laure, Delacourt, Christophe, Deneuville, Eric, Dubus, Jean-Christophe, Egron, Carole, Epaud, Ralph, Fayon, Michael, Forgeron, Aude, Gachelin, Elsa, Galode, Francois, Gertini, Isabelle, Giovannini-Chami, Lisa, Gourdan, Pierre, Guiddir, Tamazoust, Herzog, Audrey, Houdouin, Véronique, Hullo, Églantine, Jarreau, Pierre-Henri, Labbé, Guillame, Labouret, Géraldine, Ladaurade, Alice, Le Clainche Viala, Laurence, Marguet, Christophe, Masson-Rouchaud, Alexandra, Perisson, Caroline, Rames, Cinthia, Reix, Philippe, Renoux, Marie-Catherine, Roditis, Léa, Schweitzer, Cyril, Tatopoulos, Aurélie, Trioche-Eberschweiler, Pascale, Troussier, Francoise, Vigier, Clémentine, Weiss, Laurence, Legendre, Marie, Louvrier, Camille, de Becdelievre, Alix, Coulomb, Aurore, Sileo, Chiara, Ducou le Pointe, Hubert, Berteloot, Laureline, Delestrain, Céline, and Nathan, Nadia

Abstract

IntroductionInterstitial lung disease in children (chILD) are rare and mostly severe lung diseases. Very few epidemiological data are available in limited series of patients. The aim of this study was to assess the prevalence and incidence of chILD in France.MethodsWe performed within the RespiRare network a multicentre retrospective observational study in patients with chILD from 2000 to 2022 and a prospective evaluation of chILD’s incidence between February 2022 and 2023.ResultschILD was reported in 790 patients in 42 centres. The estimated 2022 prevalence in France was 44 /million children (95% CI 40.76 to 47.46) and the computed incidence was 4.4 /million children (95% CI 3.44 to 5.56). The median age at diagnosis was 3 months with 16.9% of familial forms. Lung biopsy and genetic analyses were performed in 23.4% and 76.9%, respectively. The most frequent chILD aetiologies in the <2 years group were surfactant metabolism disorders (16.3%) and neuroendocrine cell hyperplasia of infancy (11.8%), and in the 2–18 years group diffuse alveolar haemorrhage (12.2%), connective tissue diseases (11.4%), hypersensitivity pneumonitis (8.8%) and sarcoidosis (8.8%). The management included mainly oxygen therapy (52%), corticosteroid pulses (56%), oral corticosteroids (44%), azithromycin (27.2%), enteral nutrition (26.9%), immunosuppressants (20.3%) and hydroxychloroquine (15.9%). The 5-year survival rate was 57.3% for the patients diagnosed before 2 years and 86% between 2 and 18 years.ConclusionThis large and systematic epidemiological study confirms a higher incidence and prevalence of chILD than previously described. In order to develop international studies, efforts are still needed to optimise the case collection and to harmonise diagnostic and management practices.

Published
2024
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19. Late-onset pulmonary complications following allogeneic hematopoietic cell transplantation in pediatric patients: a prospective multicenter study

Author

Houdouin, Véronique, Dubus, Jean Christophe, Crepon, Sophie Guilmin, Rialland, Fanny, Bruno, Bénedicte, Jubert, Charlotte, Reix, Philippe, Pasquet, Marlène, Paillard, Catherine, Adjaoud, Dalila, Schweitzer, Cyril, Le Bourgeois, Muriel, Pages, Justine, Yacoubi, Adyla, Dalle, Jean Hugues, Bergeron, Anne, and Delclaux, Christophe

Abstract

The primary objective of our multicenter prospective study was to describe the incidence of late-onset non-infectious pulmonary complications (LONIPCs) in children undergoing hematopoietic cell transplantation (HCT) using sensitive criteria for pulmonary function test (PFT) abnormalities including the non-specific pattern of airflow obstruction. Secondary objectives were to assess the factors associated with LONIPC occurrence and the sensitivity of the 2014 NIH-Consensus Criteria of bronchiolitis obliterans syndrome (BOS). PFT and clinical assessment were performed prior to HCT and at 6, 12, 24, and 36 months post-HCT. LONIPC diagnosis was validated by an Adjudication Committee. The study comprised 292 children from 12 centers. Thirty-two individuals (11%, 95% CI: 8–15%) experienced 35 LONIPCs: 25 BOS, 4 interstitial lung diseases, 4 organizing pneumonia and 2 pulmonary veno-occlusive diseases. PFT abnormalities were obstructive defects (FEV1/FVC z-score < −1.645; n= 12), restrictive defects (TLC < 80% predicted, FEV1and FVC z-scores < −1.645; n= 7) and non-specific pattern (FEV1and FVC z-score< −1.645, FEV1/FVC z-score > −1.645, and TLC > 80% predicted; n= 8). HCT for malignant disease was the only factor associated with LONIPC (P= 0.04). The 2014 NIH-Consensus Criteria would only diagnose 8/25 participants (32%) as having BOS. In conclusion, 11% of children experienced a LONIPC in a prospective design. Clinical Trials.gov identifier (NCT number): NCT02032381.

Published
2024
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20. Glucocorticoid induced adrenal insufficiency in children: Morning cortisol values to avoid LDSST

Author

Laulhé, Margaux, primary, Dumaine, Cécile, additional, Chevenne, Didier, additional, Leye, Fallou, additional, Faye, Albert, additional, Dozières, Blandine, additional, Strullu, Marion, additional, Viala, Jérome, additional, Hogan, Julien, additional, Houdouin, Véronique, additional, Léger, Juliane, additional, Simon, Dominique, additional, Carel, Jean-Claude, additional, Storey, Caroline, additional, Guilmin-Crépon, Sophie, additional, and Martinerie, Laetitia, additional

Published
2022
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21. eOSCE stations live versus remote evaluation and scores variability

Author

Bouzid, Donia, Mullaert, Jimmy, Ghazali, Aiham, Ferré, Valentine Marie, Mentré, France, Lemogne, Cédric, Ruszniewski, Philippe, Faye, Albert, Dinh, Alexy Tran, Mirault, Tristan, Smadja, Nathan Peiffer, Muller, Léonore, Pierrotin, Laure Falque, Thy, Michael, Assadi, Maksud, Yung, Sonia, de Tymowski, Christian, Le Hingrat, Quentin, Eyer, Xavier, Wicky, Paul Henri, Oualha, Mehdi, Houdouin, Véronique, Jabre, Patricia, Vodovar, Dominique, Burgio, Marco Dioguardi, Zucman, Noémie, Tsopra, Rosy, Tazi, Asmaa, Ressaire, Quentin, Nguyen, Yann, Girard, Muriel, Frachon, Adèle, Depret, François, Pellat, Anna, de Masson, Adèle, Azais, Henri, de Castro, Nathalie, Jeantrelle, Caroline, Javaud, Nicolas, Malmartel, Alexandre, de Margerie, Constance Jacquin, Chousterman, Benjamin, Fournel, Ludovic, Holleville, Mathilde, Blanche, Stéphane, Infection, Anti-microbiens, Modélisation, Evolution (IAME (UMR_S_1137 / U1137)), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité)-Université Sorbonne Paris Nord, Institut de psychiatrie et neurosciences de Paris (IPNP - U1266 Inserm), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Hôpital Beaujon [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), AP-HP Hôpital universitaire Robert-Debré [Paris], CIC Hôpital Bichat, AP-HP - Hôpital Bichat - Claude Bernard [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-UFR de Médecine, 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), Health data- and model- driven Knowledge Acquisition (HeKA), Inria de Paris, Institut National de Recherche en Informatique et en Automatique (Inria)-Institut National de Recherche en Informatique et en Automatique (Inria)-Centre de Recherche des Cordeliers (CRC (UMR_S_1138 / U1138)), École Pratique des Hautes Études (EPHE), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Université Paris Cité (UPCité)-École Pratique des Hautes Études (EPHE), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Université Paris Cité (UPCité), and Centre de Recherche des Cordeliers (CRC (UMR_S_1138 / U1138))

Subjects
[SHS.EDU]Humanities and Social Sciences/Education, General Medicine, Education
Abstract

Background Objective structured clinical examinations (OSCEs) are known to be a fair evaluation method. These recent years, the use of online OSCEs (eOSCEs) has spread. This study aimed to compare remote versus live evaluation and assess the factors associated with score variability during eOSCEs. Methods We conducted large-scale eOSCEs at the medical school of the Université de Paris Cité in June 2021 and recorded all the students’ performances, allowing a second evaluation. To assess the agreement in our context of multiple raters and students, we fitted a linear mixed model with student and rater as random effects and the score as an explained variable. Results One hundred seventy observations were analyzed for the first station after quality control. We retained 192 and 110 observations for the statistical analysis of the two other stations. The median score and interquartile range were 60 out of 100 (IQR 50–70), 60 out of 100 (IQR 54–70), and 53 out of 100 (IQR 45–62) for the three stations. The score variance proportions explained by the rater (ICC rater) were 23.0, 16.8, and 32.8%, respectively. Of the 31 raters, 18 (58%) were male. Scores did not differ significantly according to the gender of the rater (p = 0.96, 0.10, and 0.26, respectively). The two evaluations showed no systematic difference in scores (p = 0.92, 0.053, and 0.38, respectively). Conclusion Our study suggests that remote evaluation is as reliable as live evaluation for eOSCEs.

Published
2022

23. Pulmonary hemosiderosis in children with Down syndrome: a national experience

Author

Alimi, Aurelia, Taytard, Jessica, Abou Taam, Rola, Houdouin, Véronique, Forgeron, Aude, Lubrano Lavadera, Marc, Cros, Pierrick, Gibertini, Isabelle, Derelle, Jocelyne, Deschildre, Antoine, Thumerelle, Caroline, Epaud, Ralph, Reix, Philippe, Fayon, Michael, Roullaud, Sylvie, Troussier, Françoise, Renoux, Marie-Catherine, de Blic, Jacques, Leyronnas, Sophie, Thouvenin, Guillaume, Perisson, Caroline, Ravel, Aimé, Clement, Annick, Corvol, Harriet, Nathan, Nadia, and for the French RespiRare® group

Published
2018
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24. Whole exome sequencing in three families segregating a pediatric case of sarcoidosis

Author

Calender, Alain, Rollat Farnier, Pierre Antoine, Buisson, Adrien, Pinson, Stéphane, Bentaher, Abderrazzaq, Lebecque, Serge, Corvol, Harriet, Abou Taam, Rola, Houdouin, Véronique, Bardel, Claire, Roy, Pascal, Devouassoux, Gilles, Cottin, Vincent, Seve, Pascal, Bernaudin, Jean-François, Lim, Clarice X., Weichhart, Thomas, Valeyre, Dominique, Pacheco, Yves, Clement, Annick, Nathan, Nadia, and in the frame of GSF (Groupe Sarcoïdose France)

Published
2018
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26. Cumulative Incidence and Risk Factors for Severe Coronavirus Disease 2019 in French People With Cystic Fibrosis.

Author

Corvol, Harriet, Miranda, Sandra de, Dehillotte, Clémence, Lemonnier, Lydie, Chiron, Raphael, Danner-Boucher, Isabelle, Hamidfar, Rebecca, Houdouin, Véronique, Macey, Julie, Marguet, Christophe, Murris-Espin, Marlène, Reynaud, Quitterie, Reix, Philippe, Gaubert, Martine Reynaud, Kemgang, Astrid, Burgel, Pierre-Régis, and Group, French Cystic Fibrosis Reference Network Study

Subjects
LUNG physiology, COVID-19, CONFIDENCE intervals, AGE distribution, PATIENTS, DIABETES, CYSTIC fibrosis, SEVERITY of illness index, SEX distribution, DESCRIPTIVE statistics, HOSPITAL care, FORCED expiratory volume, ODDS ratio, TRANSPLANTATION of organs, tissues, etc., DISEASE complications
Abstract

Background Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infections are closely monitored in people with cystic fibrosis (pwCF), especially severe cases. Previous studies used hospitalization rates as proxy for severity. Methods We evaluated data from coronavirus disease 2019 (COVID-19) cases diagnosed in French pwCF over the first pandemic year. Objective criteria were applied for defining severity (eg, respiratory failure and/or death). Data were compared to all French pwCF using the National Registry. Results As of 30 April 2021, 223 pwCF were diagnosed with COVID-19, with higher risks in adults (odds ratio [OR], 2.52 [95% confidence interval {CI}, 1.82−3.48]) and transplant recipients (OR, 2.68 [95% CI, 1.98–3.63]). Sixty (26.9%) patients were hospitalized, with increased risk in transplant recipients (OR, 4.74 [95% CI, 2.49–9.02]). In 34 (15%) cases, COVID-19 was considered severe; 28 (46.7%) hospitalizations occurred without objective criteria of severity. Severe cases occurred mostly in adult (85.3%) and posttransplant pwCF (61.8%; OR, 6.02 [95% CI, 2.77–13.06]). In nontransplanted pwCF, risk factors for severity included low lung function (median percentage of predicted forced expiratory volume in 1 second, 54.6% vs 75.1%; OR, 1.04 [95% CI, 1.01–1.08]) and CF-related diabetes (OR, 3.26 [95% CI, 1.02–10.4]). While 204 cases fully recovered, 16 were followed for possible sequelae, and 3 posttransplant females died. Conclusions Severe COVID-19 occurred infrequently during the first pandemic year in French pwCF. Nontransplanted adults with severe respiratory disease or diabetes and posttransplant individuals were at risk for severe COVID-19. Thus, specific preventive measures should be proposed. [ABSTRACT FROM AUTHOR]

Published
2022
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28. Exposure to inorganic particles in paediatric sarcoidosis: the PEDIASARC study

Author

Nathan, Nadia, primary, Montagne, Marie-Emeline, additional, Macchi, Odile, additional, Rosental, Paul-André, additional, Chauveau, Simon, additional, Jeny, Florence, additional, Sesé, Lucile, additional, Abou Taam, Rola, additional, Brocvielle, Manon, additional, Brouard, Jacques, additional, Catinon, Mickaël, additional, Chapelon-Abric, Catherine, additional, Cohen-Aubart, Fleur, additional, Delacourt, Christophe, additional, Delestrain, Céline, additional, Deschildre, Antoine, additional, Dossier, Antoine, additional, Epaud, Ralph, additional, Haroche, Julien, additional, Houdouin, Véronique, additional, Israel-Biet, Dominique, additional, Juvin, Karine, additional, Le Jeune, Sylvain, additional, Lionnet, Francois, additional, Meinzer, Ulrich, additional, Mittaine, Marie, additional, Nunes, Hilario, additional, Mattioni, Sarah, additional, Naccache, Jean-Marc, additional, Odièvre, Marie-Hélène, additional, Vincent, Michel, additional, Clement, Annick, additional, Valeyre, Dominique, additional, and Cavalin, Catherine, additional

Published
2021
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29. Evaluation of two prognostic scoring systems for respiratory syncytial virus infection in a French multicentre cohort of allogeneic hematopoietic stem cell transplant recipients

Author

Houist, Anne-Laure, primary, Bondeelle, Louise, additional, Cassonnet, Stephane, additional, Salmona, Maud, additional, Le Goff, Jérôme, additional, Peffault De Latour, Regis, additional, Rivière, Frederic, additional, Soler, Charles, additional, Houdouin, Véronique, additional, Dalle, Jean-Hugues, additional, Robin, Christine, additional, Fourati, Slim, additional, Griscelli, Franck, additional, Coman, Tereza, additional, Chevret, Sylvie, additional, and Bergeron, Anne, additional

Published
2021
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30. Mineral exposures in pediatric sarcoidosis

Author

Nathan, Nadia, primary, Montagne, Marie-Emeline, additional, Macchi, Odile, additional, Rosental, Paul-André, additional, Chauveau, Simon, additional, Jeny, Florence, additional, Sesé, Lucile, additional, Abou Taam, Rola, additional, Brouard, Jacques, additional, Catinon, Mickaël, additional, Chapelon-Abric, Catherine, additional, Cohen Aubart, Fleur, additional, Delacourt, Christophe, additional, Delestrain, Céline, additional, Deschildre, Antoine, additional, Dossier, Antoine, additional, Epaud, Ralph, additional, Haroche, Julien, additional, Houdouin, Véronique, additional, Israel-Biet, Dominique, additional, Juvin, Karine, additional, Le Jeune, Sylvain, additional, Lionnet, François, additional, Meinzer, Ulrich, additional, Mittaine, Marie, additional, Nunes, Hilario, additional, Mattioni, Sarah, additional, Naccache, Jean-Marc, additional, Odièvre, Marie-Hélène, additional, Vincent, Michel, additional, Clement, Annick, additional, Valeyre, Dominique, additional, and Cavalin, Catherine, additional

Published
2021
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38. Chest physiotherapy enhances detection of Pseudomonas aeruginosa in nonexpectorating children with cystic fibrosis

Author

Marguet, Christophe, primary, Houdouin, Véronique, additional, Pin, Isabelle, additional, Reix, Philippe, additional, Huet, Frédéric, additional, Mittaine, Marie, additional, Ramel, Sophie, additional, Wizla-Derambure, Nathalie, additional, Abely, Michel, additional, Dalphin, Marie-Laure, additional, Fayon, Michael, additional, Bihouée, Tiphaine, additional, Le Bourgeois, Muriel, additional, Deneuville, Eric, additional, Corvol, Harriet, additional, Laurans, Muriel, additional, Couderc, Laure, additional, Leroux, Evelyne, additional, and Lémée, Ludovic, additional

Published
2021
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40. Ont collaboré à cet ouvrage

Author

Amara, Saad Abu, primary, Alison, Marianne, additional, Andreu-Gallien, Juliette, additional, Angoulvant, Francois, additional, Armengaud, Jean-Baptiste, additional, Arsan, Amine, additional, Azib, Sonia, additional, Azoulay, Robin, additional, Bailleux, Sylvain, additional, Bailly, Céline, additional, Banerjee, Ananda, additional, Barbarot, Sébastien, additional, Bardiaux, Laurent, additional, Baruteau, Julien, additional, Baumann, Clarisse, additional, Beydon, Nicole, additional, Bidat, Étienne, additional, Bingen, Édouard, additional, Blaysat, Gérard, additional, Blondé, Renaud, additional, Boscher, Cécile, additional, Botte, Astrid, additional, Bourdon, Olivier, additional, Bourrillon, Antoine, additional, Boyer, Olivia, additional, Brémond-Gignac, Dominique, additional, Brion, Françoise, additional, Broué, Pierre, additional, Cailho, Anne, additional, Camby, Caroline, additional, Carel, Jean-Claude, additional, Chabrol, Brigitte, additional, Chantepie, Alain, additional, Chedevergne, Frédérique, additional, Chéron, Gérard, additional, Chevallier, Bertrand, additional, Chevenne, Didier, additional, Chouraqui, Jean-Pierre, additional, Cohen, Robert, additional, Czernichow, Paul, additional, Dariel, Anne, additional, Dauger, Stéphane, additional, de Blic, Jacques, additional, De Napoli Cocci, Stephan, additional, Debray, Dominique, additional, Delacourt, Christophe, additional, Deschênes, Georges, additional, Donadieu, Jean, additional, Dossier, Claire, additional, Dubos, François, additional, Duhamel, Jean-François, additional, Dutau, Guy, additional, Duverger, Philippe, additional, Ernenwein, Didier, additional, Faye, Albert, additional, Fellus, Patrick, additional, Fila, Marc, additional, Foucaud, Pierre, additional, Fançois, Martine, additional, Gajdos, Vincent, additional, Gall, Olivier, additional, Garnier, Arnaud, additional, Gaudelus, Joël, additional, Gendrel, Dominique, additional, Gillet, Yves, additional, Girard, Nadine, additional, Girardet, Jean-Philippe, additional, Godon, Nathalie, additional, Gottrand, Frédéric, additional, Gournay, Véronique, additional, Gras-Le Guen, Christèle, additional, Grimprel, Emmanuel, additional, Guédeney, Antoine, additional, Guédeney, Nicole, additional, Haas, Hervé, additional, Hankard, Régis, additional, Hassan, Max, additional, Hentgen, Véronique, additional, Hernandorena, Xavier, additional, Holvoet-Vermaut, Laurent, additional, Houdouin, Véronique, additional, Hurtaud-Roux, Marie-Françoise, additional, Ilharreborde, Brice, additional, Imbert, Patrick, additional, Jacquin, Paul, additional, Jarreau, Pierre-Henri, additional, Javouhey, Étienne, additional, Job-Deslandre, Chantal, additional, Koné-Paut, Isabelle, additional, Kremp, Odile, additional, Krug, Pauline, additional, Labrune, Philippe, additional, Émilie Lampin, Marie, additional, Launay, Élise, additional, Lautridou, Anne, additional, Le Bourgeois, Muriel, additional, Le Guen, Hervé, additional, Le Heuzey, Marie-France, additional, Le Henaff, Gaëlle, additional, Lecendreux, Michel, additional, Lechevallier, Joël, additional, Leclair, Marc-David, additional, Léger, Juliane, additional, Leroyer, Dominique, additional, Levieux, Karine, additional, Levine, Martine, additional, Liet, Jean-Michel, additional, Lopes, David, additional, Lopez, Emmanuel, additional, Lorette, Gérard, additional, Lorrot, Mathie, additional, Macher, Marie-Alice, additional, Mallet, Éric, additional, Marchand, Martine, additional, Marcou, Valérie, additional, Maruani, Annabel, additional, Mary, Pierre, additional, Mention-Mulliez, Karine, additional, Michel, Gérard, additional, Michot, Charlotte, additional, Milh, Mathieu, additional, Minodier, Philippe, additional, Moraillon, Isabelle, additional, Mouren, Marie-Christine, additional, Narcy, Philippe, additional, The Tich, Sylvie N'guyen, additional, Parat-Lesbros, Sophie, additional, Patkai, Juliana, additional, Perel, Yves, additional, Perrier-Cornet, Emilia, additional, Picard, Capucine, additional, Picherot, Georges, additional, Polak, Michel, additional, Prot-Labarthe, Sonia, additional, Richard, Geneviève, additional, Rochcongar, Pierre, additional, Rohrlich, Pierre, additional, Roussey, Michel, additional, Roussey-Kesler, Gwénaëlle, additional, Rybojad, Michel, additional, Scavarda, Didier, additional, Schlemmer, Catherine, additional, Sebag, Guy, additional, Sellier-Leclerc, Anne-Laure, additional, Sermet-Gaudelus, Isabelle, additional, Simon, Dominique, additional, Sorge, Frédéric, additional, Stheneur, Chantal, additional, Tilea, Bogdana, additional, Treluyer, Jean-Marc, additional, Tubiana-Rufi, Nadia, additional, Tudorache, Elena, additional, Vabres, Nathalie, additional, Van Den Abbeele, Thierry, additional, Victor, Anaïs, additional, Vidailhet, Michel, additional, Villeneuve, Nathalie, additional, Vrignaud, Bénédicte, additional, Wiener-Vacher, Sylvette, additional, Wood, Chantal, additional, Zana-Taieb, Élodie, additional, and Zenaty, Delphine, additional

Published
2011
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41. Exposure to inorganic particles in paediatric sarcoidosis: the PEDIASARC study.

Author

Nathan, Nadia, Montagne, Marie-Emeline, Macchi, Odile, Rosental, Paul-André, Chauveau, Simon, Jeny, Florence, Sesé, Lucile, Taam, Rola Abou, Brocvielle, Manon, Brouard, Jacques, Catinon, Mickaël, Chapelon-Abric, Catherine, Cohen-Aubart, Fleur, Delacourt, Christophe, Delestrain, Céline, Deschildre, Antoine, Dossier, Antoine, Epaud, Ralph, Haroche, Julien, and Houdouin, Véronique

Subjects
SARCOIDOSIS, PEDIATRICS, MINERAL dusts, RESEARCH, DUST, RESEARCH methodology, OCCUPATIONAL exposure, EVALUATION research, TALC, OCCUPATIONS, COMPARATIVE studies, ENVIRONMENTAL exposure
Abstract

Inorganic antigens may contribute to paediatric sarcoidosis. Thirty-six patients matched with 36 healthy controls as well as a group of 21 sickle-cell disease (SCD) controls answered an environmental questionnaire. Patients' indirect exposure to inorganic particles, through coresidents' occupations, was higher than in healthy and SCD controls (median score: 2.5 (0.5-7) vs 0.5 (0-2), p=0.003 and 1 (0-2), p=0.012, respectively), especially for construction, exposures to metal dust, talc, abrasive reagents and scouring products. Wood or fossil energies heating were also linked to paediatric sarcoidosis. This study supports a link between mineral environmental exposure due to adult coresident occupations and paediatric sarcoidosis. [ABSTRACT FROM AUTHOR]

Published
2022
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42. First Wave of COVID-19 in French Patients with Cystic Fibrosis

Author

Corvol, Harriet, primary, de Miranda, Sandra, additional, Lemonnier, Lydie, additional, Kemgang, Astrid, additional, Reynaud Gaubert, Martine, additional, Chiron, Raphael, additional, Dalphin, Marie-Laure, additional, Durieu, Isabelle, additional, Dubus, Jean-Christophe, additional, Houdouin, Véronique, additional, Prevotat, Anne, additional, Ramel, Sophie, additional, Revillion, Marine, additional, Weiss, Laurence, additional, Guillot, Loic, additional, Boelle, Pierre-Yves, additional, and Burgel, Pierre-Régis, additional

Published
2020
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45. Small airway dysfunction is an independent dimension of wheezing disease in preschool children.

Author

Bokov, Plamen, Jallouli‐Masmoudi, Donies, Amat, Flore, Houdouin, Véronique, Delclaux, Christophe, and Kalayci, Ömer

Subjects
WHEEZE, PRESCHOOL children, JUVENILE diseases, RESPIRATORY organs, PRINCIPAL components analysis
Abstract

Background: Whether small airway dysfunction (SAD), which is prevalent in asthma, helps to characterize wheezing phenotypes is undetermined. The objective was to assess whether SAD parameters obtained from impedance measurement and asthma probability are linked. Methods: One hundred and thirty‐nine preschool children (mean age 4.7 years, 68% boys) suffering from recurrent wheezing underwent impulse oscillometry that allowed calculating peripheral resistance and compliance of the respiratory system (markers of SAD) using the extended RIC model (central and peripheral resistance, inertance, and peripheral compliance). Children were classified using the probability‐based approach of GINA guidelines (few, some, and most having asthma). A principal component analysis (PCA) that determined the dimensions of wheezing disease evaluated the links between SAD and asthma probability. Results: Forty‐seven children belonged to the few, 28 to the some, and 64 to the most having asthma groups. Whereas their anthropometrics and measured parameters were similar, the most having asthma group exhibited the lowest mean value of airway inertance after bronchodilator probably due to airway inhomogeneities. PCA characterized four independent dimensions including a peripheral resistance (constituted by baseline peripheral compliance, Frs, R5Hz, R5‐20Hz, X5Hz, and AX), a central resistance (baseline central resistance, R20Hz), anthropometrics (age and height), and asthma probability (wheezing patterns and therapeutic steps). Thus, PCA showed that the SAD markers were independent from clinical dimensions and were unable to differentiate wheezing phenotypes. Conclusions: Lung function parameters obtained from impulse oscillometry and asthma probability were belonging to independent dimensions of the wheezing disease. [ABSTRACT FROM AUTHOR]

Published
2022
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46. Mucosal-Associated Invariant T Cell Levels Are Reduced in the Peripheral Blood and Lungs of Children With Active Pulmonary Tuberculosis

Author

Malka-Ruimy, Clara, Ben Youssef, Ghada, Lambert, Marion, Tourret, Marie, Ghazarian, Liana, Faye, Albert, Caillat-Zucman, Sophie, and Houdouin, Véronique

Subjects
Adolescent, Immunology, Histocompatibility Antigens Class I, Age Factors, Infant, Mycobacterium tuberculosis, Immunity, Innate, Mucosal-Associated Invariant T Cells, Immunophenotyping, host pathogen interactions, tuberculosis, Child, Preschool, innate immune response, Humans, microbial infection, Lymphocyte Count, mucosal associated invariant T cells, Child, Immunity, Mucosal, Lung, Tuberculosis, Pulmonary, Biomarkers, Original Research
Abstract

Mucosal associated invariant T (MAIT) cells are unconventional, semi-invariant T lymphocytes that recognize microbial-derived vitamin B2 (riboflavin) biosynthesis precursor derivatives presented by the monomorphic MHC class 1-related (MR1) molecule. Upon microbial infection, MAIT cells rapidly produce cytokines and cytotoxic effectors, and are thus important players in anti-microbial defense. MAIT cells are protective in experimental models of infection and are decreased in the blood of adult patients with bacterial infections, including Mycobacterium tuberculosis (Mtb). In children, the risk of rapid progression to active tuberculosis (TB) following Mtb infection is higher than in adults. Whether MAIT cells influence the outcome of Mtb infection in children is therefore, an important issue. We analyzed MAIT cell numbers and phenotype in 115 children investigated for pulmonary TB and determined their potential correlation with disease progression. MAIT cells were reduced in numbers and activated in the peripheral blood of children with active TB as compared to those with latent TB infection (LTBI) and healthy children. Moreover, MAIT cells did not accumulate and did not proliferate in the lung of children with active TB. These results suggest that MAIT cells may be important in preventing progression of Mtb infection to active TB in children.

Published
2019

48. A national internet-linked based database for pediatric interstitial lung diseases: the French network

Author

Nathan Nadia, Taam Rola, Epaud Ralph, Delacourt Christophe, Deschildre Antoine, Reix Philippe, Chiron Raphaël, de Pontbriand Ulrika, Brouard Jacques, Fayon Michaël, Dubus Jean-Christophe, Giovannini-Chami Lisa, Bremont François, Bessaci Katia, Schweitzer Cyril, Dalphin Marie-Laure, Marguet Christophe, Houdouin Véronique, Troussier Françoise, Sardet Anne, Hullo Eglantine, Gibertini Isabelle, Mahloul Malika, Michon Delphine, Priouzeau Adrien, Galeron Laurie, Vibert Jean-François, Thouvenin Guillaume, Corvol Harriet, deBlic Jacques, and Clement Annick

Subjects
Interstitial lung disease, Network, Epidemiology, Database, Medicine
Abstract

Abstract Background Interstitial lung diseases (ILDs) in children represent a heterogeneous group of rare respiratory disorders that affect the lung parenchyma. After the launch of the French Reference Centre for Rare Lung Diseases (RespiRare®), we created a national network and a web-linked database to collect data on pediatric ILD. Methods Since 2008, the database has been set up in all RespiRare® centres. After patient's parents' oral consent is obtained, physicians enter the data of children with ILD: identity, social data and environmental data; specific aetiological diagnosis of the ILD if known, genetics, patient visits to the centre, and all medical examinations and tests done for the diagnosis and/or during follow up. Each participating centre has a free access to his own patients' data only, and cross-centre studies require mutual agreement. Physicians may use the system as a daily aid for patient care through a web-linked medical file, backed on this database. Results Data was collected for 205 cases of ILD. The M/F sex ratio was 0.9. Median age at diagnosis was 1.5 years old [0–16.9]. A specific aetiology was identified in 149 (72.7%) patients while 56 (27.3%) cases remain undiagnosed. Surfactant deficiencies and alveolar proteinosis, haemosiderosis, and sarcoidosis represent almost half of the diagnoses. Median length of follow-up is 2.9 years [0–17.2]. Conclusions We introduce here the French network and the largest national database in pediatric ILDs. The diagnosis spectrum and the estimated incidence are consistent with other European databases. An important challenge will be to reduce the proportion of unclassified ILDs by a standardized diagnosis work-up. This database is a great opportunity to improve patient care and disease pathogenesis knowledge. A European network including physicians and European foundations is now emerging with the initial aim of devising a simplified European database/register as a first step to larger European studies.

Published
2012
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49. Additional file 3: of Whole exome sequencing in three families segregating a pediatric case of sarcoidosis

Author

Calender, Alain, Farnier, Pierre Rollat, Buisson, Adrien, Pinson, Stéphane, Abderrazzaq Bentaher, Lebecque, Serge, Corvol, Harriet, Taam, Rola Abou, Houdouin, Véronique, Bardel, Claire, Roy, Pascal, Devouassoux, Gilles, Cottin, Vincent, Seve, Pascal, Jean-François Bernaudin, Lim, Clarice, Weichhart, Thomas, Valeyre, Dominique, Pacheco, Yves, Clement, Annick, and Nathan, Nadia

Abstract

Table S3. Composite heterozygocity observed in a common gene in at least two different trios. Possibly pathogenic compound heterozygous variants (allelic heterogeneity) observed in different positions of a common gene in at least two trios. The origin of either the paternal and maternal allele was detailed for each variant. Abbreviations are the same as in Tables 1, 2, Additional files 1 and 2: Tables S1 and S2. (DOCX 51 kb)

Published
2018
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50. Additional file 2: of Whole exome sequencing in three families segregating a pediatric case of sarcoidosis

Author

Calender, Alain, Farnier, Pierre Rollat, Buisson, Adrien, Pinson, Stéphane, Abderrazzaq Bentaher, Lebecque, Serge, Corvol, Harriet, Taam, Rola Abou, Houdouin, Véronique, Bardel, Claire, Roy, Pascal, Devouassoux, Gilles, Cottin, Vincent, Seve, Pascal, Jean-François Bernaudin, Lim, Clarice, Weichhart, Thomas, Valeyre, Dominique, Pacheco, Yves, Clement, Annick, and Nathan, Nadia

Abstract

Table S2. Recessive variants shared by a common gene in at least two different trios. Possibly pathogenic recessive variants observed at different positions for a single gene in at least two affected children of the trios (T). Abbreviations are the same as in Tables 1, 2 and Additional file 1: Table S1. (DOCX 31 kb)

Published
2018
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