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1. 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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2. French practical guidelines for the diagnosis and management of idiopathic pulmonary fibrosis – 2021 update. Full-length version

Author

Cottin, Vincent, Bonniaud, Philippe, Cadranel, Jacques, Crestani, Bruno, Jouneau, Stéphane, Marchand-Adam, Sylvain, Nunes, Hilario, Wémeau-Stervinou, Lidwine, Bergot, Emmanuel, Blanchard, Elodie, Borie, Raphaël, Bourdin, Arnaud, Chenivesse, Cécile, Clément, Annick, Gomez, Emmanuel, Gondouin, Anne, Hirschi, Sandrine, Lebargy, François, Marquette, Charles-Hugo, Montani, David, Prévot, Grégoire, Quetant, Sébastien, Reynaud-Gaubert, Martine, Salaun, Mathieu, Sanchez, Olivier, Trumbic, Bruno, Berkani, Karim, Brillet, Pierre-Yves, Campana, Marion, Chalabreysse, Lara, Chatté, Gérard, Debieuvre, Didier, Ferretti, Gilbert, Fourrier, Jean-Michel, Just, Nicolas, Kambouchner, Marianne, Legrand, Bertrand, Le Guillou, Frédéric, Lhuillier, Jean-Pierre, Mehdaoui, Anas, Naccache, Jean-Marc, Paganon, Catherine, Rémy-Jardin, Martine, Si-Mohamed, Salim, and Terrioux, Philippe

Published
2023
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3. 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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4. 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, and Deneuville, Eric

Subjects
PULMONARY alveolar proteinosis, PRIMARY immunodeficiency diseases, NUCLEOTIDE sequencing, PULMONARY eosinophilia, INTERSTITIAL lung diseases, CHILD patients, EPIDEMIOLOGY
Published
2024
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7. Paediatric sarcoidosis

Author

Nathan, Nadia, Sileo, Chiara, Calender, Alain, Pacheco, Yves, Rosental, Paul-André, Cavalin, Catherine, Macchi, Odile, Valeyre, Dominique, and Clement, Annick

Published
2019
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8. Pilot experience of multidisciplinary team discussion dedicated to inherited pulmonary fibrosis

Author

Borie, Raphael, Kannengiesser, Caroline, Gouya, Laurent, Dupin, Clairelyne, Amselem, Serge, Ba, Ibrahima, Bunel, Vincent, Bonniaud, Philippe, Bouvry, Diane, Cazes, Aurélie, Clement, Annick, Debray, Marie Pierre, Dieude, Philippe, Epaud, Ralph, Fanen, Pascale, Lainey, Elodie, Legendre, Marie, Plessier, Aurélie, Sicre de Fontbrune, Flore, Wemeau-Stervinou, Lidwine, Cottin, Vincent, Nathan, Nadia, and Crestani, Bruno

Published
2019
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9. 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

10. Diffuse alveolar haemorrhage in children: an international multicentre study

Author

Ring, Astrid Madsen, primary, Schwerk, Nicolaus, additional, Kiper, Nural, additional, Aslan, Ayse Tana, additional, Aurora, Paul, additional, Ayats, Roser, additional, Azevedo, Ines, additional, Bandeira, Teresa, additional, Carlens, Julia, additional, Castillo-Corullon, Silvia, additional, Cobanoglu, Nazan, additional, Elnazir, Basil, additional, Emiralioğlu, Nagehan, additional, Eyuboglu, Tugba Sismanlar, additional, Fayon, Michael, additional, Gursoy, Tugba Ramaslı, additional, Hogg, Claire, additional, Kötz, Karsten, additional, Karadag, Bülent, additional, Látalová, Vendula, additional, Krenke, Katarzyna, additional, Lange, Joanna, additional, Manali, Effrosyni D., additional, Osona, Borja, additional, Papiris, Spyros, additional, Proesmans, Marijke, additional, Reix, Philippe, additional, Roditis, Lea, additional, Rubak, Sune, additional, Rumman, Nisreen, additional, Snijders, Deborah, additional, Stehling, Florian, additional, Weiss, Laurence, additional, Yalcın, Ebru, additional, Zirek, Fazilcan, additional, Bush, Andrew, additional, Clement, Annick, additional, Griese, Matthias, additional, Buchvald, Frederik Fouirnaies, additional, Nathan, Nadia, additional, and Nielsen, Kim Gjerum, additional

Published
2023
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11. Diffuse alveolar haemorrhage in children:an international multicentre study

Author

Ring, Astrid Madsen, Schwerk, Nicolaus, Kiper, Nural, Aslan, Ayse Tana, Aurora, Paul, Ayats, Roser, Azevedo, Ines, Bandeira, Teresa, Carlens, Julia, Castillo-Corullon, Silvia, Cobanoglu, Nazan, Elnazir, Basil, Emiralioğlu, Nagehan, Eyuboglu, Tugba Sismanlar, Fayon, Michael, Gursoy, Tugba Ramaslı, Hogg, Claire, Kötz, Karsten, Karadag, Bülent, Látalová, Vendula, Krenke, Katarzyna, Lange, Joanna, Manali, Effrosyni D., Osona, Borja, Papiris, Spyros, Proesmann, Marijke, Reix, Philippe, Roditis, Lea, Rubak, Sune, Rumman, Nisreen, Snijders, Deborah, Stehling, Florian, Weiss, Laurence, Yalcın, Ebru, Zirek, Fazilcan, Bush, Andrew, Clement, Annick, Griese, Matthias, Buchvald, Frederik Fouirnaies, Nathan, Nadia, Nielsen, Kim Gjerum, Ring, Astrid Madsen, Schwerk, Nicolaus, Kiper, Nural, Aslan, Ayse Tana, Aurora, Paul, Ayats, Roser, Azevedo, Ines, Bandeira, Teresa, Carlens, Julia, Castillo-Corullon, Silvia, Cobanoglu, Nazan, Elnazir, Basil, Emiralioğlu, Nagehan, Eyuboglu, Tugba Sismanlar, Fayon, Michael, Gursoy, Tugba Ramaslı, Hogg, Claire, Kötz, Karsten, Karadag, Bülent, Látalová, Vendula, Krenke, Katarzyna, Lange, Joanna, Manali, Effrosyni D., Osona, Borja, Papiris, Spyros, Proesmann, Marijke, Reix, Philippe, Roditis, Lea, Rubak, Sune, Rumman, Nisreen, Snijders, Deborah, Stehling, Florian, Weiss, Laurence, Yalcın, Ebru, Zirek, Fazilcan, Bush, Andrew, Clement, Annick, Griese, Matthias, Buchvald, Frederik Fouirnaies, Nathan, Nadia, and Nielsen, Kim Gjerum

Abstract

Background Paediatric diffuse alveolar haemorrhage (DAH) is a rare heterogeneous condition with limited knowledge on clinical presentation, treatment and outcome. Methods A retrospective, descriptive multicentre follow-up study initiated from the European network for translational research in children's and adult interstitial lung disease (Cost Action CA16125) and chILD-EU CRC (the European Research Collaboration for Children's Interstitial Lung Disease). Inclusion criteria were DAH of any cause diagnosed before the age of 18 years. Results Data of 124 patients from 26 centres (15 counties) were submitted, of whom 117 patients fulfilled the inclusion criteria. Diagnoses were idiopathic pulmonary haemosiderosis (n=35), DAH associated with autoimmune features (n=20), systemic and collagen disorders (n=18), immuno-allergic conditions (n=10), other childhood interstitial lung diseases (chILD) (n=5), autoinflammatory diseases (n=3), DAH secondary to other conditions (n=21) and nonspecified DAH (n=5). Median (IQR) age at onset was 5 (2.0–12.9) years. Most frequent clinical presentations were anaemia (87%), haemoptysis (42%), dyspnoea (35%) and cough (32%). Respiratory symptoms were absent in 23%. The most frequent medical treatment was systemic corticosteroids (93%), hydroxychloroquine (35%) and azathioprine (27%). Overall mortality was 13%. Long-term data demonstrated persistent abnormal radiology and a limited improvement in lung function. Conclusions Paediatric DAH is highly heterogeneous regarding underlying causes and clinical presentation. The high mortality rate and number of patients with ongoing treatment years after onset of disease underline that DAH is a severe and often chronic condition. This large international study paves the way for further prospective clinical trials that will in the long term allow evidence-based treatment and follow-up recommendations to be determined., Background Paediatric diffuse alveolar haemorrhage (DAH) is a rare heterogeneous condition with limited knowledge on clinical presentation, treatment and outcome. Methods A retrospective, descriptive multicentre follow-up study initiated from the European network for translational research in children’s and adult interstitial lung disease (Cost Action CA16125) and chILD-EU CRC (the European Research Collaboration for Children’s Interstitial Lung Disease). Inclusion criteria were DAH of any cause diagnosed before the age of 18 years. Results Data of 124 patients from 26 centres (15 counties) were submitted, of whom 117 patients fulfilled the inclusion criteria. Diagnoses were idiopathic pulmonary haemosiderosis (n=35), DAH associated with autoimmune features (n=20), systemic and collagen disorders (n=18), immuno-allergic conditions (n=10), other childhood interstitial lung diseases (chILD) (n=5), autoinflammatory diseases (n=3), DAH secondary to other conditions (n=21) and nonspecified DAH (n=5). Median (IQR) age at onset was 5 (2.0–12.9) years. Most frequent clinical presentations were anaemia (87%), haemoptysis (42%), dyspnoea (35%) and cough (32%). Respiratory symptoms were absent in 23%. The most frequent medical treatment was systemic corticosteroids (93%), hydroxychloroquine (35%) and azathioprine (27%). Overall mortality was 13%. Long-term data demonstrated persistent abnormal radiology and a limited improvement in lung function. Conclusions Paediatric DAH is highly heterogeneous regarding underlying causes and clinical presentation. The high mortality rate and number of patients with ongoing treatment years after onset of disease underline that DAH is a severe and often chronic condition. This large international study paves the way for further prospective clinical trials that will in the long term allow evidence-based treatment and follow-up recommendations to be determined.

Published
2023

14. 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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15. 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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16. Genotype-Phenotype Relationships in Inheritable Idiopathic Pulmonary Fibrosis: A Greek National Cohort Study

Author

Manali, Effrosyni, Kannengiesser, Caroline, Borie, Raphael, Ba, Ibrahima, Bouros, Demosthenes, Markopoulou, Aikaterini, Antoniou, Katerina, Kolilekas, Lykourgos, Papaioannou, Andriana, Tzilas, Vasileios, Tzouvelekis, Argyrios, Daniil, Zoe, Fouka, Evangelia, Papakosta, Despoina, Xyfteri, Areti, Karakatsani, Anna, Loukides, Stylianos, Korbila, Ioanna, Tomos, Ioannis, Konstantinidis, Athanasios, Gogali, Athina, Steiropoulos, Paschalis, Papanikolaou, Ilias, Bazaka, Chrysa, Haritou, Aggeliki, Vassilakopoulos, Theodoros, Maniati, Maria, Kagouridis, Konstantinos, Markozannes, Evangelos, Bouros, Evangelos, Rampiadou, Christina, Kounti, Georgia, Trachalaki, Athina, Dimeas, Ilias, Karampitsakos, Theodoros, Lyberopoulos, Panagiotis, Malamadakis, Nikolaos, Spyropoulou, Sofia, Revy, Patrick, Lainey, Elodie, Dieudé, Philippe, Rebah, Khedidja, Ménard, Christelle, Oudin, Claire, Masson, Cécile, Plessier, Aurélie, Legendre, Marie, Nathan, Nadia, Coulomb-L’hermine, Aurore, Clement, Annick, Amselem, Serge, Boileau, Catherine, Crestani, Bruno, Papiris, Spyros, National and Kapodistrian University of Athens (NKUA), AP-HP - Hôpital Bichat - Claude Bernard [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Physiopathologie et Epidémiologie des Maladies Respiratoires (PHERE (UMR_S_1152 / U1152)), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Centre de Référence des Maladies Pulmonaires Rares [AP-HP Hôpital Bichat], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Iatriko Medical Center [Athens], General Hospital of Thessaloniki George Papanikolaou, University of Crete [Heraklion] (UOC), 'Sotiria' General Hospital [Athens], University of Patras, University of Thessaly [Larissa], Aristotle University of Thessaloniki, Private Clinic, Messini, University of Ioannina, Democritus University of Thrace (DUTH), Corfu General Hospital [Corfu], Private Clinic, Agrinio, Private Clinic, Ioannina, Private Clinic, Chalkis, Genome dynamics in the immune system (Equipe Inserm U1163), Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Université Paris Cité (UPCité), Hôpital Beaujon [AP-HP], Maladies génétiques d'expression pédiatrique [CHU Trousseau] (Inserm 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), UF de Génétique moléculaire [CHU Trousseau], CHU Trousseau [APHP], Service de Pneumologie pédiatrique [CHU Trousseau], Centre de référence national pour les maladies respiratoires rares de l’enfant RespiRare [CHU Trousseau], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Greek Group of ILD Investigators, and Couvet, Sandrine

Subjects
Pulmonary and Respiratory Medicine, Genotype, Greece, [SDV]Life Sciences [q-bio], Inheritable pulmonary fibrosis, MUC5B rs35705950 T risk allele, [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics, Prognosis, Surfactant protein-related genes, Idiopathic Pulmonary Fibrosis, Cohort Studies, [SDV] Life Sciences [q-bio], Phenotype, Telomere-related genes, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Humans, Pathogenic variations, Genetic Predisposition to Disease
Abstract

Background: Monogenic and polygenic inheritances are evidenced for idiopathic pulmonary fibrosis (IPF). Pathogenic variations in surfactant protein-related genes, telomere-related genes (TRGs), and a single-nucleotide polymorphism in the promoter of MUC5B gene encoding mucin 5B (rs35705950 T risk allele) are reported. This French-Greek collaborative study, Gen-Phen-Re-GreekS in inheritable IPF (iIPF), aimed to investigate genetic components and patients’ characteristics in the Greek national IPF cohort with suspected heritability. Patients and Methods: 150 patients with familial PF, personal-family extrapulmonary disease suggesting short telomere syndrome, and/or young age IPF were analyzed. Results: MUC5B rs35705950 T risk allele was detected in 103 patients (90 heterozygous, 13 homozygous, allelic frequency of 39%), monoallelic TRG pathogenic variations in 19 patients (8 TERT, 5 TERC, 2 RTEL1, 2 PARN, 1 NOP10, and 1 NHP2), and biallelic ABCA3 pathogenic variations in 3. Overlapping MUC5B rs35705950 T risk allele and TRG pathogenic variations were shown in 11 patients (5 TERT, 3 TERC, 1 PARN, 1 NOP10, and 1 NHP2), MUC5B rs35705950 T risk allele, and biallelic ABCA3 pathogenic variations in 2. In 38 patients, neither MUC5B rs35705950 T risk allele nor TRG pathogenic variations were detectable. Kaplan-Meier curves showed differences in time-to-death (p = 0.025) where patients with MUC5B rs35705950 T risk allele alone or in combination with TRG pathogenic variations presented better prognosis. Conclusion: The Gen-Phen-Re-GreekS in iIPF identified multiple and overlapping genetic components including the rarest, underlying disease’s genetic “richesse,” complexity and heterogeneity. Time-to-death differences may relate to diverse IPF pathogenetic mechanisms implicating “personalized” medical care driven by genotypes in the near future.

Published
2022

17. RaDiCo, le programme de recherche national sur les cohortes maladies rares en 2021

Author

Amselem, Serge, Gueguen, Sonia, Weinbach, Jérôme, Clement, Annick, Landais, Paul, Couvet, Sandrine, Maladies génétiques d'expression pédiatrique [CHU Trousseau] (Inserm 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), CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Service de Pneumologie pédiatrique [CHU Trousseau], and Université de Montpellier (UM)

Subjects
[SDV.GEN]Life Sciences [q-bio]/Genetics, [SDV.GEN] Life Sciences [q-bio]/Genetics
Abstract

Background Rare diseases (RDs) affect nearly 3 million people in France and at least 26-30 million people in Europe. These diseases, which represent a major medical concern, are mainly of genetic origin and account for more than one third of all deaths occurring during infancy. In this context, there are needs for coordinated information on RDs at national/international levels, based on high quality sharable data. The RaDiCo (Rare Disease Cohorts) program, which has been selected by the “Cohorts” call from the “Programme Investissements d’Avenir“ (PIA1) received its initial funding in 2012. The main objective of this program coordinated by Inserm was to create a national operational platform dedicated to the development, within a research framework, of several RD e-cohorts that meet strict criteria of excellence. The RD e-cohort projects were selected through a RaDiCo’s national call in 2014 (international evaluation–success rate: 25%). Depending on cohorts, the objectives were to describe the natural history of the studied RD(s), identify the underlying disease genes, establish phenotype-genotype correlations, decipher their pathophysiology, assess their societal/medico-economic impact, and/or identify patients eligible for new therapeutic approaches. Results A platform equivalent to an infrastructure has been set up ex-nihilo. It pools all the resources needed for implementing within an industrialization framework a RD database. Constructed on the "cloud computing" principle, the plateform, which relies on an original Information System (IS), is in compliance with the European directive on General Data Protection Regulation (GDPR), ensuring a continuous monitoring of data quality. As of September 2021, more than 6000 patients have been included within 13 RD e-cohorts covering 67 diseases integrated in 10 European Reference Networks and contributing to the European Joint Program on RDs. Several original results published in ~40 peer-reviewed international journals have been obtained in relation with the secondary objectives of the cohorts. They deal with discovery of new disease genes, assessment of treatment management, deciphering the underlying pathophysiological mechanisms, diagnostic approaches, genotype-phenotype relationships, development of questionnaires relative to disease burden, or methodological aspects.Conclusion The RaDiCo program promotes the collection of RD data of different types for epidemiological and clinical research purposes in connection with basic and translational research. The RaDiCo platform offers a common core of services to ensure installation and follow-up of RD e-cohorts, as well as an IS that, as it can drive a virtually unlimited number of e-cohorts, has become the base of the IS of the “France Cohortes” Inserm unit that includes cohorts of common disorders and population-based cohorts. Currently, 13 RD e-cohorts are implemented in RaDiCo and other national, European and international cohorts are targeted.

Published
2022

19. 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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20. Diffuse alveolar haemorrhage in children: an international multicentre study

Author

Ring, Astrid, primary, Schwerk, Nicolaus, additional, Kiper, Nural, additional, Aslan, Ayse Tana, additional, Aurora, Paul, additional, Ayats, Roser, additional, Azevedo, Inês, additional, Bandeira, Teresa, additional, Carlens, Julia, additional, Castillo-Corullon, Silvia, additional, Cobanoglu, Nazan, additional, Elnazir, Basil, additional, Emiralioğlu, Nagehan, additional, Eyuboglu, Tugba Sismanlar, additional, Gursoy, Tugba Ramasli, additional, Hogg, Claire, additional, Karadag, Bülent, additional, Látalová, Vendula, additional, Krenke, Katarzyna, additional, Lange, Joanna, additional, Osona, Borja, additional, Proesmann, Marijke, additional, Reix, Philippe, additional, Renoux, Marie-Catherine, additional, Roditis, Léa, additional, Rubak, Sune, additional, Rumman, Nisreen, additional, Thumerelle, Caroline, additional, Weiss, Laurence, additional, Yalcın, Ebru, additional, Zirek, Fazilcan, additional, Bush, Andy, additional, Clement, Annick, additional, Buchvald, Frederik Fouirnaies, additional, Griese, Matthias, additional, Nathan, Nadia, additional, and Nielsen, Kim Gjerum, additional

Published
2021
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22. 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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25. Rapid Improvement after Starting Elexacaftor–Tezacaftor–Ivacaftor in Patients with Cystic Fibrosis and Advanced Pulmonary Disease

Author

Burgel, Pierre-Régis, primary, Durieu, Isabelle, additional, Chiron, Raphaël, additional, Ramel, Sophie, additional, Danner-Boucher, Isabelle, additional, Prevotat, Anne, additional, Grenet, Dominique, additional, Marguet, Christophe, additional, Reynaud-Gaubert, Martine, additional, Macey, Julie, additional, Mely, Laurent, additional, Fanton, Annlyse, additional, Quetant, Sébastien, additional, Lemonnier, Lydie, additional, Paillasseur, Jean-Louis, additional, Da Silva, Jennifer, additional, Martin, Clémence, additional, Andrejak, Claire, additional, Becourt, Arnaud, additional, Mounard, Julie, additional, Poulet, Claire, additional, Rames, Cinthia, additional, Talleux, Marie, additional, Chevalier, Marie-Chantal, additional, Darviot, Estelle, additional, Jouvenot, Marie, additional, Marien, Caroline, additional, Paris, Audrey, additional, Pelatan, Cécile, additional, Person, Christine, additional, Priou, Pascaline, additional, Troussier, Françoise, additional, Urban, Thierry, additional, Dalphin, Marie-Laure, additional, Dalphin, Jean-Charles, additional, Ladaurade, Alice, additional, Pernet, Didier, additional, Richaud-Thiriez, Bénédicte, additional, Roux-Claude, Pauline, additional, Blanc, Nathalia, additional, Boisserie-Lacroix, Vincent, additional, Bui, Stephanie, additional, Collet, Cyrielle, additional, Debelleix, Stéphane, additional, Bergot, Emmanuel, additional, Brouard, Jacques, additional, Campbell, Karine, additional, Laurans, Muriel, additional, Ribault, Virginie, additional, Borderon, Corinne, additional, Heraud, Marie-Christine, additional, Labbe, Guillaume, additional, Montcouquiol, Sylvie, additional, Petit, Isabelle, additional, Ruivard, Marc, additional, Delestrain, Céline, additional, Douvry, Benoit, additional, Epaud, Ralph, additional, Maitre, Bernard, additional, Remus, Natascha, additional, Beltramo, Guillaume, additional, Houzel, Anne, additional, Huet, Frédéric, additional, Perez, Stéphanie, additional, Boldron-Ghaddar, Amale, additional, Scalbert, Manuela, additional, Bouzioukh, Rabah, additional, Simon, Charles, additional, Camara, Boubou, additional, Hamidfar, Rébecca, additional, Llerena, Catherine, additional, Pin, Isabelle, additional, Deschildre, Antoine, additional, Gicquello, Alice, additional, Le Rouzic, Olivier, additional, Leroy, Clara, additional, Paris, Nicolas, additional, Perez, Thierry, additional, Thumerelle, Caroline, additional, Turck, Dominique, additional, Wizla, Nathalie, additional, Dupuy-Grasset, Magali, additional, Languepin, Jane, additional, Masson-Rouchaud, Alexandra, additional, Menetrey, Céline, additional, Durupt, Stéphane, additional, L’Excellent, Sophie, additional, Nove-Josserand, Raphaele, additional, Ohlmann, Camille, additional, Reix, Phillipe, additional, Reynaud, Quitterie, additional, Werck-Gallois, Marie-Christine, additional, Baravalle, Mélissandre, additional, Coltey, Bérangère, additional, Desmazes-Dufeu, Nadine, additional, Dubus, Jean-Christophe, additional, Gautier, Clarisse, additional, Rey, Jean-Baptiste, additional, Stremler, Nathalie, additional, Caimmi, Davide, additional, Devrait, Margot, additional, Moreau, Johan, additional, Billon, Yves, additional, Blondé, Aurore, additional, Guillaumot, Anne, additional, Kiefer, Sébastien, additional, Peretti, Laura, additional, Tatopoulos, Aurélie, additional, Tiotiu, Angélica, additional, Benhamida, Myriam, additional, Bihouee, Tiphaine, additional, Eschapasse, Emmanuel, additional, Tissot, Adrien, additional, Giannantonio, Marie, additional, Leroy, Sylvie, additional, Piccini-Bailly, Carole, additional, Pradelli, Johana, additional, Messika, Jonathan, additional, Boussaud, Véronique, additional, Burgel, Pierre-Régis, additional, Carlier, Nicolas, additional, Honoré, Isabelle, additional, Hubert, Dominique, additional, Kanaan, Reem, additional, Bailly-Botuha, Céline, additional, Chedevergne, Frédérique, additional, De Blic, Jacques, additional, Delacourt, Christophe, additional, Drummond, David, additional, Fauroux, Brigitte, additional, Karila, Chantal, additional, Le Bourgeois, Muriel, additional, Sermet, Isabelle, additional, Delaisi, Bertrand, additional, Gerardin, Michèle, additional, Houdouin, Veronique, additional, Leclainche, Laurence, additional, Aubertin, Guillaume, additional, Berdah, Laura, additional, Clement, Annick, additional, Corvol, Harriet, additional, Nathan, Nadia, additional, Prevost, Blandine, additional, Richard, Nicolas, additional, Tamalet, Aline, additional, Taytard, Jessica, additional, Thouvenin, Guillaume, additional, Tourniaire, Barbara, additional, Abely, Michel, additional, Bessaci-Kabouya, Katia, additional, Dury, Sandra, additional, Ravoninjatovo, Bruno, additional, Dabadie, Alain, additional, Dagorne, Michel, additional, Deneuville, Eric, additional, Jamin, Marie, additional, Ribault, Mélanie, additional, Vigier, Clémentine, additional, Belleguic, Chantal, additional, Brinchault, Graziella, additional, Desrues, Benoit, additional, Barzic, Audrey, additional, Dirou-Prigent, Anne, additional, Le Bihan, Jean, additional, Revert, Krista, additional, Ropars, Thomas, additional, Couderc, Laure, additional, Dominique, Stéphane, additional, Morisse-Pradier, Hélène, additional, Pramil, Stéphanie, additional, Thiberville, Luc, additional, Allou, Nathalie, additional, Enaud, Laurent, additional, Gachelin, Elsa, additional, Huchot, Eric, additional, Payet, Annabelle, additional, Perisson, Caroline, additional, Piyaraly, Saguiraly, additional, Valois, Sophie, additional, Herzog, Audrey, additional, Kessler, Romain, additional, Porzio, Michele, additional, Weiss, Laurence, additional, Beaumont, Laurence, additional, Brugiere, Olivier, additional, Colin, Sylvie, additional, Verdiere, de, additional, Cuquemelle, Elise, additional, De Miranda, Sandra, additional, Monem Hamid, Adbdul, additional, Parquin, François, additional, Picard, Clément, additional, Roux, Antoine, additional, Roy, Charlotte, additional, Bremont, François, additional, Didier, Alain, additional, Dupuis, Marion, additional, Faviez, Guillaume, additional, Labouret, Géraldine, additional, Mittaine, Marie, additional, Murris-Espin, Marlène, additional, Roditis, Léa, additional, Cosson, Laure, additional, Diot, Patrice, additional, Flament, Thomas, additional, Giraut, Charlotte, additional, Mankikian, Julie, additional, Arnouat, Baptiste, additional, Mousset, Gaétane, additional, Storni, Véronique, additional, Vigneron, Philippe, additional, Coirier-Duet, Emmanuelle, additional, and Gabsi, Asma, additional

Published
2021
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27. Study design of a randomised, placebo-controlled trial of nintedanib in children and adolescents with fibrosing interstitial lung disease

Author

Deterding, Robin, primary, Griese, Matthias, additional, Deutsch, Gail, additional, Warburton, David, additional, DeBoer, Emily M., additional, Cunningham, Steven, additional, Clement, Annick, additional, Schwerk, Nicolaus, additional, Flaherty, Kevin R., additional, Brown, Kevin K., additional, Voss, Florian, additional, Schmid, Ulrike, additional, Schlenker-Herceg, Rozsa, additional, Verri, Daniela, additional, Dumistracel, Mihaela, additional, Schiwek, Marilisa, additional, Stowasser, Susanne, additional, Tetzlaff, Kay, additional, Clerisme-Beaty, Emmanuelle, additional, and Young, Lisa R., additional

Published
2021
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31. Functional assessment and phenotypic heterogeneity of SFTPA1 and SFTPA2 mutations in interstitial lung diseases and lung cancer

Author

Legendre, Marie, primary, Butt, Afifaa, additional, Borie, Raphaël, additional, Debray, Marie-Pierre, additional, Bouvry, Diane, additional, Filhol-Blin, Emilie, additional, Desroziers, Tifenn, additional, Nau, Valérie, additional, Copin, Bruno, additional, Dastot-Le Moal, Florence, additional, Héry, Mélanie, additional, Duquesnoy, Philippe, additional, Allou, Nathalie, additional, Bergeron, Anne, additional, Bermudez, Julien, additional, Cazes, Aurélie, additional, Chene, Anne-Laure, additional, Cottin, Vincent, additional, Crestani, Bruno, additional, Dalphin, Jean-Charles, additional, Dombret, Christine, additional, Doray, Bérénice, additional, Dupin, Clairelyne, additional, Giraud, Violaine, additional, Gondouin, Anne, additional, Gouya, Laurent, additional, Israël-Biet, Dominique, additional, Kannengiesser, Caroline, additional, Le Borgne, Aurélie, additional, Leroy, Sylvie, additional, Longchampt, Elisabeth, additional, Lorillon, Gwenaël, additional, Nunes, Hilario, additional, Picard, Clément, additional, Reynaud-Gaubert, Martine, additional, Traclet, Julie, additional, de Vuyst, Paul, additional, Coulomb L'Hermine, Aurore, additional, Clement, Annick, additional, Amselem, Serge, additional, and Nathan, Nadia, additional

Published
2020
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32. Impact of Gender on the Characteristics of Patients with Idiopathic Pulmonary Fibrosis Included in the RaDiCo-ILD Cohort.

Author

Cottin, Vincent, Gueguen, Sonia, Jouneau, Stéphane, Nunes, Hilario, Crestani, Bruno, Bonniaud, Philippe, Wémeau-Stervinou, Lidwine, Reynaud-Gaubert, Martine, Israël-Biet, Dominique, Cadranel, Jacques, Marchand-Adam, Sylvain, Quétant, Sébastien, Hirschi, Sandrine, Montani, David, Gamez, Anne-Sophie, Chevereau, Marie, Dufaure-Garé, Isabelle, Amselem, Serge, and Clement, Annick

Subjects
RESEARCH, IDIOPATHIC pulmonary fibrosis, CONFIDENCE intervals, MEDICAL cooperation, RESPIRATORY measurements, SEX distribution, QUALITY of life, PULMONARY function tests, QUESTIONNAIRES, ODDS ratio, COMPUTED tomography, SMOKING, LONGITUDINAL method, PHENOTYPES, COMORBIDITY, PULMONARY emphysema, SYMPTOMS
Abstract

Background: There is growing evidence of gender-specific phenotypic differences among patients with idiopathic pulmonary fibrosis (IPF), which may affect patient outcomes. Objectives: We present the characteristics of patients with IPF at inclusion in the French Rare Disease Cohort – Interstitial Lung Disease (RaDiCo-ILD) with the aim of characterizing gender-specific phenotypic differences. Methods: Patients with IPF who were enrolled in the national, multicentre RaDiCo-ILD cohort were included. Demographic characteristics, comorbidities, health-related quality of life (HRQoL) scores, pulmonary function, chest imaging, and IPF treatment were collected at inclusion and described by gender. Results: The cohort included 724 patients with IPF (54% of RaDiCo-ILD cohort), of whom 82.9% were male. The proportion of male and female patients with a prior history of smoking was 75.0% and 26.8%, respectively. Emphysema was present in 17.0% (95% confidence interval [CI]: 10.0, 24.0) of men and 5.4% (95% CI: 1.2, 9.6) of women. At inclusion, females had poorer HRQoL than males based on St. George's Respiratory Questionnaire scores (48.5 [95% CI: 43.9, 53.0] and 41.5 [39.4, 43.6], respectively). The mean forced vital capacity per cent predicted was 77.7% (95% CI: 76.2, 79.3) and 87.4% (83.4, 91.4) for males and females, respectively. Honeycombing on high-resolution computed tomography (HRCT) was present in 70.8% (95% CI: 61.0, 80.6) of males and 45.8% (95% CI: 35.1, 56.5) of females. Conclusions: This analysis of patients with IPF at inclusion in the RaDiCo-ILD cohort provides evidence that comorbid emphysema, lung volume reduction, and honeycombing on HRCT are more common characteristics of males than females. [ABSTRACT FROM AUTHOR]

Published
2022
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33. RaDiCo, the French national research program on rare disease cohorts.

Author

Amselem, Serge, Gueguen, Sonia, Weinbach, Jérôme, Clement, Annick, Landais, Paul, and RaDiCo Program

Subjects
RARE diseases, GENERAL Data Protection Regulation, 2016, THERAPEUTICS
Abstract

Background: Rare diseases (RDs) affect nearly 3 million people in France and at least 26-30 million people in Europe. These diseases, which represent a major medical concern, are mainly of genetic origin, often chronic, progressive, degenerative, life threatening and disabling, accounting for more than one third of all deaths occurring during infancy. In this context, there are needs for coordinated information on RDs at national/international levels, based on high quality, interoperable and sharable data. The main objective of the RaDiCo (Rare Disease Cohorts) program, coordinated by Inserm, was the development of RD e-cohorts via a national platform. The cohort projects were selected through a national call in 2014. The e-cohorts are supported by an interoperable platform, equivalent to an infrastructure, constructed on the "cloud computing" principle and in compliance with the European General Data Protection Regulation. It is dedicated to allow a continuous monitoring of data quality and consistency, in line with the French Health Data Hub.Results: Depending on cohorts, the objectives are to describe the natural history of the studied RD(s), identify the underlying disease genes, establish phenotype-genotype correlations, decipher their pathophysiology, assess their societal and medico-economic impact, and/or identify patients eligible for new therapeutic approaches. Inclusion of prevalent and incident cases started at the end of 2016. As of April 2021, 5558 patients have been included within 13 RD e-cohorts covering 67 diseases integrated in 10 European Reference Networks and contributing to the European Joint Program on RDs. Several original results have been obtained in relation with the secondary objectives of the RaDiCo cohorts. They deal with discovery of new disease genes, assessment of treatment management, deciphering the underlying pathophysiological mechanisms, diagnostic approaches, genotype-phenotype relationships, development and validation of questionnaires relative to disease burden, or methodological aspects.Conclusion: RaDiCo currently hosts 13 RD e-cohorts on a sharable and interoperable platform constructed on the "cloud computing" principle. New RD e-cohorts at the European and international levels are targeted. [ABSTRACT FROM AUTHOR]

Published
2021
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34. The international primary ciliary dyskinesia cohort (iPCD Cohort): methods and first results

Author

Goutaki, Myrofora, Maurer, Elisabeth, Halbeisen, Florian S., Amirav, Israel, Barbato, Angelo, Behan, Laura, Boon, Mieke, Casaulta, Carmen, Clement, Annick, Haarman, Eric G., Hogg, Claire, Karadag, Bulent, Koerner-Rettberg, Cordula, Leigh, Margaret W., Loebinger, Michael R., Mazurek, Henryk, Morgan, Lucy, Nielsen, Kim G., Omran, Heymut, Schwerk, Nicolaus, Scigliano, S., Werner, C., Yiallouros, Panayiotis K., Zivkovic, Z., Lucas, Jane S., Kuehni, Claudia E., CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Université Pierre et Marie Curie - Paris 6 - UFR de Médecine Pierre et Marie Curie (UPMC), Université Pierre et Marie Curie - Paris 6 (UPMC), European Union’s Seventh Framework Programme under EG-GA 35404 BESTCILIA: Better Experimental Screening and Treatment for Primary Ciliary Dyskinesia., Primary ciliary dyskinesia research at ISPM Bern is also funded by national funding from the LungLeagues of Bern, St Gallen, Vaud, Ticino and Valais and the Milena Carvajal Pro-Kartagener Foundation., The researchers participate in the network of COST Action BEAT-PCD: Better Evidence to Advance Therapeutic options forPCD (BM 1407), Swiss PCD Group, French Reference Centre for Rare Lung Diseases, Genetic Disorders of Mucociliary Clearance Consortium, Yiallouros, Panayiotis K. [0000-0002-8339-9285], Goutaki, Myrofora [0000-0001-8036-2092], Kuehni, Claudia E. [0000-0001-8957-2002], Nielsen, Kim G. [0000-0001-5906-9449], Lucas, Jane S. [0000-0001-8701-9975], Pediatrics, CCA - Cancer biology and immunology, Amsterdam Reproduction & Development (AR&D), Other Research, Goutaki, Myrofora, Maurer, Elisabeth, Halbeisen, Florian S., Amirav, Israel, Barbato, Angelo, Behan, Laura, Boon, Mieke, Casaulta, Carmen, Clement, Annick, Crowley, Suzanne, Haarman, Eric, Hogg, Claire, Karadag, Bulent, Koerner-Rettberg, Cordula, Leigh, Margaret W., Loebinger, Michael R., Mazurek, Henryk, Morgan, Lucy, Nielsen, Kim G., Omran, Heymut, Schwerk, Nicolaus, Scigliano, Sergio, Werner, Claudius, Yiallouros, Panayiotis, Zivkovic, Zorica, Lucas, Jane S., and Kuehni, Claudia E.

Subjects
0301 basic medicine, Male, Pediatrics, Primary Ciliary Dyskinesia, EUROPEAN CHILDREN, FEATURES, [SDV]Life Sciences [q-bio], Respiratory System, Severity of Illness Index, [SDV.MHEP.PSR]Life Sciences [q-bio]/Human health and pathology/Pulmonology and respiratory tract, DISEASE, 0302 clinical medicine, Epidemiology, Young adult, Child, 610 Medicine & health, POPULATION, media_common, education.field_of_study, 11 Medical And Health Sciences, DEFECTS, Middle Aged, Prognosis, LUNG-FUNCTION, Europe, Phenotype, Child, Preschool, Cohort, Female, Life Sciences & Biomedicine, 360 Social problems & social services, Pulmonary and Respiratory Medicine, Adult, medicine.medical_specialty, PCD Italian Consortium, Adolescent, Population, Genetic Disorders of Mucociliary Clearance Consortium, DIAGNOSIS, 03 medical and health sciences, Young Adult, Meta-Analysis as Topic, Severity of illness, medicine, otorhinolaryngologic diseases, media_common.cataloged_instance, Humans, European union, education, Retrospective Studies, French Reference Centre for Rare Lung Diseases, Science & Technology, business.industry, Kartagener Syndrome, Infant, Newborn, Infant, Retrospective cohort study, Original Articles, Review Literature as Topic, 030104 developmental biology, 030228 respiratory system, Swiss PCD Group, Observational study, business
Abstract

Data on primary ciliary dyskinesia (PCD) epidemiology is scarce and published studies are characterised by low numbers. In the framework of the European Union project BESTCILIA we aimed to combine all available datasets in a retrospective international PCD cohort (iPCD Cohort). We identified eligible datasets by performing a systematic review of published studies containing clinical information on PCD, and by contacting members of past and current European Respiratory Society Task Forces on PCD. We compared the contents of the datasets, clarified definitions and pooled them in a standardised format. As of April 2016 the iPCD Cohort includes data on 3013 patients from 18 countries. It includes data on diagnostic evaluations, symptoms, lung function, growth and treatments. Longitudinal data are currently available for 542 patients. The extent of clinical details per patient varies between centres. More than 50% of patients have a definite PCD diagnosis based on recent guidelines. Children aged 10–19 years are the largest age group, followed by younger children (≤9 years) and young adults (20–29 years). This is the largest observational PCD dataset available to date. It will allow us to answer pertinent questions on clinical phenotype, disease severity, prognosis and effect of treatments, and to investigate genotype–phenotype correlations., The iPCD Cohort offers a unique opportunity to study PCD in an international retrospective cohort of >3000 patients http://ow.ly/rn0m304Jgsu

Published
2017
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36. Functional assessment of newly identified SFTPA1 and SFTPA2 mutations in patients with idiopathic interstitial pneumonia (IIP) and lung cancer28th International Congress of the European-Respiratory-Society (ERS)

Author

Nathan, Nadia, Legendre, Marie, Filhol-Blin, Emilie, Borie, Raphael, Bouvry, Diane, Kannengiesser, Caroline, Kais, Ahmad, Albuisson, Juliette, Nathalie, Allou, Borensztajn, Keren, Afifaa, Butt, Copin, Bruno, Cottin, Vincent, Crestani, Bruno, Dalphin, Jean Charles, Dastot-Le Moal, Florence, Delacourt, Christophe, De Vuyst, Paul, Duquesnoy, Philippe, Giraud, Violaine, Gomez, Carine, Gouya, Laurent, Naud, Valérie, Nunes, Hilario, Picard, Clement, Prevot, Gregoire, Reix, Philippe, Reynaud-Gaubert, Martine, Traclet, Julie, L'Hermine-Coulomb, Aurore, Clement, Annick, Amselem, Serge, Service de Pneumologie Pédiatrique [CHU Trousseau], Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Trousseau [APHP], Sorbonne Université (SU), Université Sorbonne Nouvelle - Paris 3, Centre Hospitalier Universitaire de Lyon (CHU Lyon), Service de génétique médicale - Unité de génétique clinique [Nantes], Université de Nantes (UN)-Centre hospitalier universitaire de Nantes (CHU Nantes), CHU de la Réunion, Saint-Denis, France., Assistance publique - Hôpitaux de Paris (AP-HP) (APHP), Service de Génétique et d'Embryologie Médicales [CHU Trousseau], Infections Virales et Pathologie Comparée - UMR 754 (IVPC), Institut National de la Recherche Agronomique (INRA)-École pratique des hautes études (EPHE)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon, Service de Pneumologie et Centre de Compétence des Maladies Pulmonaires Rares [AP-HP Hôpital Bichat, Paris], AP-HP - Hôpital Bichat - Claude Bernard [Paris], Service de pneumologie pédiatrique CHU de Besançon, CHU Trousseau [APHP], Erasme Hospital, Brussels, Service de Pneumologie [AP-HP Hôpital Ambroise Paré, Boulogne-Billancourt], Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-AP-HP Hôpital Ambroise-Paré [Boulogne-Billancourt], Aix Marseille Université (AMU), Assistance Publique-Hôpitaux de Marseille (AP-HM), Département de Génétique et Centre de Référence Maladies Rares Syndrome de Marfan et pathologies apparentées (AP HP, hôpital Bichat), AP-HP Hôpital Foch - Suresnes, Service de pneumologie [Toulouse], CHU Toulouse [Toulouse]-Hôpital Larrey, Service de pneumologie [Centre Hospitalier Lyon Sud - HCL], Centre Hospitalier Lyon Sud [CHU - HCL] (CHLS), Hospices Civils de Lyon (HCL)-Hospices Civils de Lyon (HCL), Microbes évolution phylogénie et infections (MEPHI), Institut de Recherche pour le Développement (IRD)-Aix Marseille Université (AMU)-Centre National de la Recherche Scientifique (CNRS), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Centre Hospitalier Universitaire de La Réunion (CHU La Réunion), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Institut National de la Recherche Agronomique (INRA)-École Pratique des Hautes Études (EPHE), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Université Claude Bernard Lyon 1 (UCBL), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Hôpital Erasme [Bruxelles] (ULB), Faculté de Médecine [Bruxelles] (ULB), Université libre de Bruxelles (ULB)-Université libre de Bruxelles (ULB), Hôpital Ambroise Paré [AP-HP], Assistance Publique - Hôpitaux de Marseille (APHM), Hôpital Foch [Suresnes], Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Service de Pneumologie pédiatrique [CHU Trousseau], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Service de génétique et embryologie médicales [CHU Trousseau], Institut National de la Recherche Agronomique (INRA)-École pratique des hautes études (EPHE), CHU Toulouse [Toulouse]-Hôpital Larrey [Toulouse], and CHU Toulouse [Toulouse]

Subjects
[SDV.MHEP.ME]Life Sciences [q-bio]/Human health and pathology/Emerging diseases, [SDV.MHEP.CSC]Life Sciences [q-bio]/Human health and pathology/Cardiology and cardiovascular system, [SDV.MHEP.MI]Life Sciences [q-bio]/Human health and pathology/Infectious diseases, [SDV.MP.VIR]Life Sciences [q-bio]/Microbiology and Parasitology/Virology, [SDV.MP.PAR]Life Sciences [q-bio]/Microbiology and Parasitology/Parasitology, [SDV.MP.BAC]Life Sciences [q-bio]/Microbiology and Parasitology/Bacteriology, ComputingMilieux_MISCELLANEOUS
Abstract

International audience

Published
2018

37. Stenotrophomonas maltophilia : A marker of lung disease severity

Author

Berdah, Laura, Taytard, Jessica, Leyronnas, Sophie, Clement, Annick, Boelle, Pierre‐Yves, Corvol, Harriet, HAL UPMC, Gestionnaire, Service de Pneumologie pédiatrique [CHU Trousseau], 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), Mucoviscidose: physiopathologie et phénogénomique [CRSA], Centre de Recherche Saint-Antoine (CRSA), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Neurophysiologie Respiratoire Expérimentale et Clinique (UMRS 1158), Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Sorbonne Université - Faculté de Médecine (SU FM), Sorbonne Université (SU), Institut Pierre Louis d'Epidémiologie et de Santé Publique (iPLESP), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de santé publique [CHU Saint-Antoine], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Saint-Antoine [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Université Pierre et Marie Curie - Paris 6 - UFR de Médecine Pierre et Marie Curie (UPMC), Université Pierre et Marie Curie - Paris 6 (UPMC), Centre de Recherche Saint-Antoine (CR Saint-Antoine), and Sorbonne Université (SU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Saint-Antoine [AP-HP]

Subjects
Male, Cystic Fibrosis, Adolescent, Stenotrophomonas maltophilia, Original Article: Cystic Fibrosis, Severity of Illness Index, [SDV.MHEP.PSR]Life Sciences [q-bio]/Human health and pathology/Pulmonology and respiratory tract, pulmonary exacerbation Stenotrophomonas maltophilia, [SDV.MHEP.PED] Life Sciences [q-bio]/Human health and pathology/Pediatrics, children, [SDV.MHEP.MI]Life Sciences [q-bio]/Human health and pathology/Infectious diseases, Prevalence, Humans, Child, Respiratory Tract Infections, Retrospective Studies, [SDV.MHEP.PED]Life Sciences [q-bio]/Human health and pathology/Pediatrics, lung function, Original Articles, Anti-Bacterial Agents, Respiratory Function Tests, respiratory tract diseases, Case-Control Studies, Child, Preschool, Disease Progression, [SDV.MHEP.MI] Life Sciences [q-bio]/Human health and pathology/Infectious diseases, [SDV.MHEP.PSR] Life Sciences [q-bio]/Human health and pathology/Pulmonology and respiratory tract, Female, Gram-Negative Bacterial Infections
Abstract

International audience; Background: While the prevalence of Stenotrophomonas maltophilia lung infection in cystic fibrosis (CF) patients has increased in the last decades, its pathogenicity remains controversial. The aim of this study was to investigate the effects of S. maltophilia initial infection on the progression of lung disease in CF children.Methods: This case‐control retrospective study took place in a pediatric CF center. A total of 23 cases defined by at least one sputum culture positive for S. maltophilia, were matched for age, sex, and CFTR mutations to 23 never infected CF controls. The clinical data were collected for 2 years before and after S. maltophilia initial infection and comprised lung function analyses, rates of exacerbations and of antibiotic courses.Results: Compared with controls, cases had lower lung function (P = 0.05), more frequent pulmonary exacerbations (P = 0.01), hospitalizations (P = 0.02), and intravenous antibiotic courses (P = 0.04) before S. maltophilia acquisition. In the year following S. maltophilia initial infection, lung function decline was similar in cases and controls but cases remained more severe, with more frequent pulmonary exacerbations (P = 0.01), hospitalizations (P = 0.02) and intravenous antibiotic courses (P = 0.02).Conclusions: S. maltophilia seems to be a marker of CF lung disease severity and international recommendations to reduce lung infection by this pathogen should rapidly emerge.

Published
2018

38. 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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39. 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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40. Deep phenotyping, including quantitative ciliary beating parameters, and extensive genotyping in primary ciliary dyskinesia

Author

Blanchon, Sylvain, primary, Legendre, Marie, additional, Bottier, Mathieu, additional, Tamalet, Aline, additional, Montantin, Guy, additional, Collot, Nathalie, additional, Faucon, Catherine, additional, Dastot, Florence, additional, Copin, Bruno, additional, Clement, Annick, additional, Filoche, Marcel, additional, Coste, André, additional, Amselem, Serge, additional, Escudier, Estelle, additional, Papon, Jean-Francois, additional, and Louis, Bruno, additional

Published
2019
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41. One-year outcomes in a multicentre cohort study of incident rare diffuse parenchymal lung disease in children (ChILD)

Author

Cunningham, Steve, primary, Graham, Catriona, additional, MacLean, Morag, additional, Aurora, Paul, additional, Ashworth, Michael, additional, Barbato, Angelo, additional, Calder, Alistair, additional, Carlens, Julia, additional, Clement, Annick, additional, Hengst, Meike, additional, Kammer, Birgit, additional, Kiper, Nural, additional, Krenke, Katarzyna, additional, Kronfeld, Kai, additional, Lange, Joanna, additional, Ley-Zaporozhan, Julia, additional, Nicholson, Andrew G, additional, Reu, Simone, additional, Wesselak, Traudl, additional, Wetzke, Martin, additional, Bush, Andrew, additional, Schwerk, Nicolaus, additional, and Griese, Matthias, additional

Published
2019
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42. Use of ruxolitinib in COPA syndrome manifesting as life-threatening alveolar haemorrhage

Author

Frémond, Marie-Louise, primary, Legendre, Marie, additional, Fayon, Michael, additional, Clement, Annick, additional, Filhol-Blin, Emilie, additional, Richard, Nicolas, additional, Berdah, Laura, additional, Roullaud, Sylvie, additional, Rice, Gillian I, additional, Bondet, Vincent, additional, Duffy, Darragh, additional, Sileo, Chiara, additional, Ducou le Pointe, Hubert, additional, Begueret, Hugues, additional, Coulomb, Aurore, additional, Neven, Bénédicte, additional, Amselem, Serge, additional, Crow, Yanick, additional, and Nathan, Nadia, additional

Published
2019
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44. Health-related quality of life in children interstitial lung disease

Author

Nathan, Nadia, primary, Lauby, Clara, additional, Abou Taam, Rola, additional, Bessaci, Katia, additional, Brouard, Jacques, additional, Dalphin, Marie-Laure, additional, Delacourt, Christophe, additional, Delestrain, Céline, additional, Deschildre, Antoine, additional, Dubus, Jean-Christophe, additional, Fayon, Michaël, additional, Giovannini-Chami, Lisa, additional, Houdouin, Véronique, additional, Houzel, Anne, additional, Marguet, Christophe, additional, Pin, Isabelle, additional, Reix, Philippe, additional, Renoux, Marie-Catherine, additional, Schweitzer, Cyril, additional, Tatopoulos, Aurélie, additional, Thumerelle, Caroline, additional, Troussier, Françoise, additional, Wanin, Stéphanie, additional, Weiss, Laurence, additional, Clement, Annick, additional, Boelle, Pierre-Yves, additional, and Epaud, Ralph, additional

Published
2019
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45. Bi-allelic missense ABCA3 mutations in a patient with childhood ILD who reached adulthood

Author

Manali, Effrosyni D., primary, Legendre, Marie, additional, Nathan, Nadia, additional, Kannengiesser, Caroline, additional, Coulomb-L'Hermine, Aurore, additional, Tsiligiannis, Theofanis, additional, Tomos, Pericles, additional, Griese, Matthias, additional, Borie, Raphael, additional, Clement, Annick, additional, Amselem, Serge, additional, Crestani, Bruno, additional, and Papiris, Spyros A., additional

Published
2019
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46. Health‐related quality of life in infants and children with interstitial lung disease

Author

Lauby, Clara, primary, Boelle, Pierre‐Yves, additional, Abou Taam, Rola, additional, Bessaci, Katia, additional, Brouard, Jacques, additional, Dalphin, Marie‐Laure, additional, Delacourt, Christophe, additional, Delestrain, Céline, additional, Deschildre, Antoine, additional, Dubus, Jean‐Christophe, additional, Fayon, Michaël, additional, Giovannini‐Chami, Lisa, additional, Houdouin, Véronique, additional, Houzel, Anne, additional, Marguet, Christophe, additional, Pin, Isabelle, additional, Reix, Philippe, additional, Renoux, Marie‐Catherine, additional, Schweitzer, Cyril, additional, Tatopoulos, Aurélie, additional, Thumerelle, Caroline, additional, Troussier, Françoise, additional, Wanin, Stéphanie, additional, Weiss, Laurence, additional, Clement, Annick, additional, Epaud, Ralph, additional, and Nathan, Nadia, additional

Published
2019
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47. 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, Abou Taam, Rola, Brocvielle, Manon, Brouard, Jacques, Catinon, Mickae¨l, Chapelon-Abric, Catherine, Cohen-Aubart, Fleur, Delacourt, Christophe, Delestrain, Céline, Deschildre, Antoine, Dossier, Antoine, Epaud, Ralph, Haroche, Julien, Houdouin, Véronique, Israel-Biet, Dominique, Juvin, Karine, Le Jeune, Sylvain, Lionnet, Francois, Meinzer, Ulrich, Mittaine, Marie, Nunes, Hilario, Mattioni, Sarah, Naccache, Jean-Marc, Odièvre, Marie-Hélène, Vincent, Michel, Clement, Annick, Valeyre, Dominique, and Cavalin, Catherine

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.

Published
2022
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48. Deep phenotyping, including quantitative ciliary beating parameters, and extensive genotyping in primary ciliary dyskinesia.

Author

Blanchon, Sylvain, Legendre, Marie, Bottier, Mathieu, Tamalet, Aline, Montantin, Guy, Collot, Nathalie, Faucon, Catherine, Dastot, Florence, Copin, Bruno, Clement, Annick, Filoche, Marcel, Coste, André, Amselem, Serge, Escudier, Estelle, Papon, Jean-Francois, and Louis, Bruno

Abstract

Background Primary ciliary dyskinesia (PCD) is a rare genetic disorder resulting in abnormal ciliary motility/structure, extremely heterogeneous at genetic and ultrastructural levels. We aimed, in light of extensive genotyping, to identify specific and quantitative ciliary beating anomalies, according to the ultrastructural phenotype. Methods We prospectively included 75 patients with PCD exhibiting the main five ultrastructural phenotypes (n=15/group), screened all corresponding PCD genes and measured quantitative beating parameters by high-speed video-microscopy (HSV). Results Sixty-eight (91%) patients carried biallelic mutations. Combined outer/inner dynein arms (ODA/IDA) defect induces total ciliary immotility, regardless of the gene involved. ODA defect induces a residual beating with dramatically low ciliary beat frequency (CBF) related to increased recovery stroke and pause durations, especially in case of DNAI1 mutations. IDA defect with microtubular disorganisation induces a low percentage of beating cilia with decreased beating angle and, in case of CCDC39 mutations, a relatively conserved mean CBF with a high maximal CBF. Central complex defect induces nearly normal beating parameters, regardless of the gene involved, and a gyrating motion in a minority of ciliated edges, especially in case of RSPH1 mutations. PCD with normal ultrastructure exhibits heterogeneous HSV values, but mostly an increased CBF with an extremely high maximal CBF. Conclusion Quantitative HSV analysis in PCD objectives beating anomalies associated with specific ciliary ultrastructures and genotypes. It represents a promising approach to guide the molecular analyses towards the best candidate gene(s) to be analysed or to assess the pathogenicity of the numerous sequence variants identified by next-generation-sequencing. [ABSTRACT FROM AUTHOR]

Published
2020
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49. One-year outcomes in a multicentre cohort study of incident rare diffuse parenchymal lung disease in children (ChILD).

Author

Cunningham, Steve, Graham, Catriona, MacLean, Morag, Aurora, Paul, Ashworth, Michael, Barbato, Angelo, Calder, Alistair, Carlens, Julia, Clement, Annick, Hengst, Meike, Kammer, Birgit, Kiper, Nural, Krenke, Katarzyna, Kronfeld, Kai, Lange, Joanna, Ley-Zaporozhan, Julia, Nicholson, Andrew G., Reu, Simone, Wesselak, Traudl, and Wetzke, Martin

Subjects
LUNG diseases, INTERSTITIAL lung diseases, COHORT analysis
Abstract

We performed a prospective, observational, cohort study of children newly diagnosed with children's interstitial lung disease (ChILD), with structured follow-up at 4, 8, 12 weeks and 6 and 12 months. 127 children, median age 0.9 (IQR 0.3-7.9) years had dyspnoea (68%, 69/102), tachypnoea (75%, 77/103) and low oxygen saturation (SpO2) median 92% (IQR 88-96). Death (n=20, 16%) was the most common in those <6 months of age with SpO2<94% and developmental/surfactant disorders. We report for the first time that ChILD survivors improved multiple clinical parameters within 8-12 weeks of diagnosis. These data can inform family discussions and support clinical trial measurements. [ABSTRACT FROM AUTHOR]

Published
2020
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50. Use of ruxolitinib in COPA syndrome manifesting as life-threatening alveolar haemorrhage.

Author

Frémond, Marie-Louise, Legendre, Marie, Michael Fayon, Clement, Annick, Filhol-Blin, Emilie, Richard, Nicolas, Berdah, Laura, Roullaud, Sylvie, Rice, Gillian I., Bondet, Vincent, Duffy, Darragh, Sileo, Chiara, Pointe, Hubert Ducou le, Begueret, Hugues, Coulomb, Aurore, Neven, Bénédicte, Amselem, Serge, Crow, Yanick, Nathan, Nadia, and Fayon, Michael

Subjects
SYNDROMES, HEMORRHAGE, JUVENILE idiopathic arthritis, ANTINEUTROPHIL cytoplasmic antibodies, LIFE sciences, MACROPHAGE activation syndrome, RESEARCH, HETEROCYCLIC compounds, LUNG diseases, RESEARCH methodology, EVALUATION research, MEDICAL cooperation, HEMOSIDEROSIS, COMPARATIVE studies
Abstract

COPA (coatomer subunit α) syndrome is a newly recognised cause of interstitial lung disease in children and adults, frequently associated with arthritis and renal dysfunction. We report a 11-year-old girl with disease limited to major pulmonary haemosiderosis manifesting at the age of 2 years, due to a heterozygous p.(Arg233His) mutation in COPA Her interferon (IFN) signature was elevated (10.312 and 12.429, healthy <2.466), as was the level of serum IFNα (211 fg/mL, healthy <10 fg/mL). STAT1 phosphorylation in T lymphocytes and monocytes was increased as compared with healthy controls. Based on these results she was treated with the JAK1/2 inhibitor ruxolitinib, which resulted in reduction in IFN signalling and appeared to be associated with partial though incomplete decrease in the severity of her pulmonary disease. Patients with alveolar haemorrhage of unknown origin should be considered for COPA screening. Functional tests can help to personalise patient therapy. [ABSTRACT FROM AUTHOR]

Published
2020
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