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

Author

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

Subjects
Medicine
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.

Published
2023
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2. X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3

Author

Chiara Olcese, Mitali P. Patel, Amelia Shoemark, Santeri Kiviluoto, Marie Legendre, Hywel J. Williams, Cara K. Vaughan, Jane Hayward, Alice Goldenberg, Richard D. Emes, Mustafa M. Munye, Laura Dyer, Thomas Cahill, Jeremy Bevillard, Corinne Gehrig, Michel Guipponi, Sandra Chantot, Philippe Duquesnoy, Lucie Thomas, Ludovic Jeanson, Bruno Copin, Aline Tamalet, Christel Thauvin-Robinet, Jean- François Papon, Antoine Garin, Isabelle Pin, Gabriella Vera, Paul Aurora, Mahmoud R. Fassad, Lucy Jenkins, Christopher Boustred, Thomas Cullup, Mellisa Dixon, Alexandros Onoufriadis, Andrew Bush, Eddie M. K. Chung, Stylianos E. Antonarakis, Michael R. Loebinger, Robert Wilson, Miguel Armengot, Estelle Escudier, Claire Hogg, UK10K Rare Group, Serge Amselem, Zhaoxia Sun, Lucia Bartoloni, Jean-Louis Blouin, and Hannah M. Mitchison

Subjects
Science
Abstract

Primary ciliary dyskinesia (PCD) is a genetically heterogeneous disease resulting in reduced mucus clearance and impaired lung function. Here, the authors show that mutations in PIH1D3 are responsible for an X-linked form of PCD, affecting assembly of a subset of inner arm dyneins.

Published
2017
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3. Evaluation of inter-observer variation for computed tomography identification of childhood interstitial lung disease

Author

Joseph Jacob, Catherine M. Owens, Alan S. Brody, Thomas Semple, Tom A. Watson, Alistair Calder, Pilar Garcia-Peña, Paolo Toma, Anand Devaraj, Henry Walton, Antonio Moreno-Galdó, Paul Aurora, Alexandra Rice, Timothy J. Vece, Steve Cunningham, Andre Altmann, Athol U. Wells, Andrew G. Nicholson, and Andrew Bush

Subjects
Medicine
Published
2019
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4. Efficacy and safety of elexacaftor plus tezacaftor plus ivacaftor versus tezacaftor plus ivacaftor in people with cystic fibrosis homozygous for F508del-CFTR : a 24-week, multicentre, randomised, double-blind, active-controlled, phase 3b trial

Author

Sivagurunathan Sutharsan, Edward F McKone, Damian G Downey, Jamie Duckers, Gordon MacGregor, Elizabeth Tullis, Eva Van Braeckel, Claire E Wainwright, Danie Watson, Neil Ahluwalia, Bote G Bruinsma, Christopher Harris, Anna P Lam, Yiyue Lou, Samuel M Moskowitz, Simon Tian, Jason Yuan, David Waltz, Marcus A Mall, Paul Aurora, Stijn Verhulst, Michael Lorenz, Jobst Roehmel, Wolfgang Gleiber, Susanne Naehrig, Florian Stehling, Silke van Koningsbruggen-Rietschel, Rainald Fischer, Damian Downey, Charles Haworth, Julian Legg, Peter Barry, Rebecca Thursfield, Simon James Doe, Tom Hilliard, Edward F Nash, Nicholas John Withers, Daniel Peckham, Helen Louise Barr, Timothy Lee, Robert Gray, Francois Vermeulen, Eef Vanderhelst, Philip J Robinson, Daniel J Smith, Siobhain A Mulrennan, Barry S Clements, Peter Wark, Aurora, Paul (Beitragende*r), Verhulst, Stijn (Beitragende*r), Lorenz, Michael (Beitragende*r), Roehmel, Jobst (Beitragende*r), Gleiber, Wolfgang (Beitragende*r), Naehrig, Susanne (Beitragende*r), Stehling, Florian (Beitragende*r), van Koningsbruggen-Rietschel, Silke (Beitragende*r), Fischer, Rainald (Beitragende*r), Haworth, Charles (Beitragende*r), Legg, Julian (Beitragende*r), Barry, Peter (Beitragende*r), Thursfield, Rebecca (Beitragende*r), Doe, Simon James (Beitragende*r), Hilliard, Tom (Beitragende*r), Nash, Edward F (Beitragende*r), Withers, Nicholas John (Beitragende*r), Peckham, Daniel (Beitragende*r), Barr, Helen Louise (Beitragende*r), Lee, Timothy (Beitragende*r), Gray, Robert (Beitragende*r), Vermeulen, Francois (Beitragende*r), Vanderhelst, Eef (Beitragende*r), Robinson, Philip J (Beitragende*r), Smith, Daniel J (Beitragende*r), Mulrennan, Siobhain A (Beitragende*r), Clements, Barry S (Beitragende*r), Wark, Peter (Beitragende*r), Physiotherapy, Human Physiology and Anatomy, Clinical sciences, and Pneumology

Subjects
Pulmonary and Respiratory Medicine, Indoles, Pyrrolidines, F508del-CFTR allele, Cystic Fibrosis, aged 12 years or older, Pyridines, Medizin, Cystic Fibrosis Transmembrane Conductance Regulator, Quinolones, Aminophenols, Double-Blind Method, Mutation, Quality of Life, Humans, Pyrazoles, cystic fibrosis transmembrane conductance regulator (CFTR), Benzodioxoles, Child, Chloride Channel Agonists
Abstract

BackgroundElexacaftor plus tezacaftor plus ivacaftor is a triple-combination cystic fibrosis transmembrane conductance regulator (CFTR) modulator regimen shown to be generally safe and efficacious in people with cystic fibrosis aged 12 years or older with at least one F508del-CFTR allele. We aimed to assess the magnitude and durability of the clinical effects of this triple combination regimen in people with cystic fibrosis homozygous for the F508del-CFTR mutation.MethodsWe conducted a multicentre, randomised, double-blind, active-controlled, phase 3b trial of elexacaftor plus tezacaftor plus ivacaftor at 35 medical centres in Australia, Belgium, Germany, and the UK. Eligible participants were those with cystic fibrosis homozygous for the F508del-CFTR mutation, aged 12 years or older with stable disease, and with a percent predicted FEV1 of 40–90% inclusive. After a 4-week run-in period, in which participants received tezacaftor 100 mg orally once daily and ivacaftor 150 mg orally every 12 h, participants were randomly assigned (1:1) to receive 24 weeks of either elexacaftor 200 mg orally once daily plus tezacaftor 100 mg orally once daily plus ivacaftor 150 mg orally every 12 h (elexacaftor plus tezacaftor plus ivacaftor group) or tezacaftor 100 mg orally once daily plus ivacaftor 150 mg orally every 12 h (tezacaftor plus ivacaftor group). Randomisation was stratified by percent predicted FEV1, age at screening visit, and whether the participant was receiving CFTR modulators at the time of the screening visit. Patients, investigators, and sponsor's study execution team were masked to treatment assignment. The primary endpoint was the absolute change in Cystic Fibrosis Questionnaire-Revised (CFQ-R) respiratory domain score from baseline (ie, at the end of the tezacaftor plus ivacaftor run-in period) up to and including week 24. The key secondary endpoint was the absolute change from baseline in percent predicted FEV1 up to and including week 24; other secondary endpoints were the absolute change from baseline in sweat chloride concentrations up to and including week 24, and safety and tolerability. All endpoints were assessed in all randomised patients who had received at least one dose of their assigned regimen. This study is registered with ClinicalTrials.gov, NCT04105972.FindingsBetween Oct 3, 2019, and July 24, 2020, 176 participants were enrolled. Following the 4-week tezacaftor plus ivacaftor run-in period, 175 participants were randomly assigned (87 to the elexacaftor plus tezacaftor plus ivacaftor group and 88 to the tezacaftor plus ivacaftor group) and dosed in the treatment period. From baseline up to and including week 24, the mean CFQ-R respiratory domain score increased by 17·1 points (95% CI 14·1 to 20·1) in the elexacaftor plus tezacaftor plus ivacaftor group and by 1·2 points (−1·7 to 4·2) in the tezacaftor plus ivacaftor group (least squares mean treatment difference 15·9 points [95% CI 11·7 to 20·1], pInterpretationThe elexacaftor plus tezacaftor plus ivacaftor regimen was safe and well tolerated, and led to significant and clinically meaningful improvements in respiratory-related quality of life and lung function, as well as improved CFTR function, changes that were durable over 24 weeks and superior to those seen with tezacaftor plus ivacaftor in this patient population.

Published
2022
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5. Case Report: severe paediatric COVID-19 pneumonitis treated with remdesivir and nitazoxanide

Author

Nuria Sanchez Clemente, Juanita Pang, Charlene Rodrigues, Paul Aurora, and Judith Breuer

Subjects
viruses, Medicine (miscellaneous), General Biochemistry, Genetics and Molecular Biology
Abstract

Paediatric severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection rarely results in a critical respiratory presentation. It is not yet known which children are at particular risk of adverse outcomes. We describe a paediatric case of critical SARS-CoV-2 infection requiring Extra Corporeal Membrane Oxygenation (ECMO), who made a full recovery after receiving a dual antiviral therapy of remdesivir and nitazoxanide.

Published
2021

6. Bayesian Inference Associates Rare KDR Variants with Specific Phenotypes in Pulmonary Arterial Hypertension

Author

Emilia M. Swietlik, Daniel Greene, Na Zhu, Karyn Megy, Marcella Cogliano, Smitha Rajaram, Divya Pandya, Tobias Tilly, Katie A. Lutz, Carrie C.L. Welch, Michael W. Pauciulo, Laura Southgate, Jennifer M. Martin, Carmen M. Treacy, Christopher J. Penkett, Jonathan C. Stephens, Harm J. Bogaard, Colin Church, Gerry Coghlan, Anna W. Coleman, Robin Condliffe, Christina A. Eichstaedt, Mélanie Eyries, Henning Gall, Stefano Ghio, Barbara Girerd, Ekkehard Grünig, Simon Holden, Luke Howard, Marc Humbert, David G. Kiely, Gabor Kovacs, Jim Lordan, Rajiv D. Machado, Robert V. MacKenzie Ross, Colm McCabe, Shahin Moledina, David Montani, Horst Olschewski, Joanna Pepke-Zaba, Laura Price, Christopher J. Rhodes, Werner Seeger, Florent Soubrier, Jay Suntharalingam, Mark R. Toshner, Anton Vonk Noordegraaf, John Wharton, James M. Wild, Stephen John Wort, Allan Lawrie, Martin R. Wilkins, Richard C. Trembath, Yufeng Shen, Wendy K. Chung, Andrew J. Swift, William C. Nichols, Nicholas W. Morrell, Stefan Gräf, Stephen Abbs, Lara Abulhoul, Julian Adlard, Munaza Ahmed, Timothy J. Aitman, Hana Alachkar, David J. Allsup, Philip Ancliff, Richard Antrobus, Ruth Armstrong, Gavin Arno, Sofie Ashford, William J. Astle, Anthony Attwood, Paul Aurora, Christian Babbs, Chiara Bacchelli, Tamam Bakchoul, Siddharth Banka, Tadbir Bariana, Julian Barwell, Joana Batista, Helen E. Baxendale, Phil L. Beales, David L. Bennett, Agnieszka Bierzynska, Tina Biss, Maria A.K. Bitner-Glindzicz, Graeme C. Black, Marta Bleda, Iulia Blesneac, Detlef Bockenhauer, Sara Boyce, John R. Bradley, Gerome Breen, Paul Brennan, Carole Brewer, Matthew Brown, Andrew C. Browning, Michael J. Browning, Rachel J. Buchan, Matthew S. Buckland, Teofila Bueser, Carmen Bugarin Diz, John Burn, Siobhan O. Burns, Oliver S. Burren, Nigel Burrows, Carolyn Campbell, Gerald Carr-White, Keren Carss, Ruth Casey, Mark J. Caulfield, Jenny Chambers, John Chambers, Melanie M.Y. Chan, Floria Cheng, Patrick F. Chinnery, Manali Chitre, Martin T. Christian, Jill Clayton-Smith, Maureen Cleary, Naomi Clements Brod, Elizabeth Colby, Trevor R.P. Cole, Janine Collins, Peter W. Collins, Cecilia J. Compton, H. Terence Cook, Stuart Cook, Nichola Cooper, Paul A. Corris, Nicola S. Curry, Matthew J. Daniels, Mehul Dattani, Louise C. Daugherty, John Davis, Anthony De Soyza, Sri V.V. Deevi, Timothy Dent, Charu Deshpande, Eleanor F. Dewhurst, Peter H. Dixon, Sofia Douzgou, Kate Downes, Anna M. Drazyk, Elizabeth Drewe, Daniel Duarte, Tina Dutt, J. David M. Edgar, Karen Edwards, William Egner, Melanie N. Ekani, Perry Elliott, Wendy N. Erber, Marie Erwood, Maria C. Estiu, Dafydd Gareth Evans, Gillian Evans, Tamara Everington, Hiva Fassihi, Remi Favier, Debra Fletcher, Frances A. Flinter, R. Andres Floto, Tom Fowler, James Fox, Amy J. Frary, Courtney E. French, Kathleen Freson, Mattia Frontini, Abigail Furnell, Daniel P. Gale, Vijeya Ganesan, Michael Gattens, Hossein-Ardeschir Ghofrani, J. Simon R. Gibbs, Kate Gibson, Kimberly C. Gilmour, Nicholas S. Gleadall, Sarah Goddard, Keith Gomez, Pavels Gordins, David Gosal, Jodie Graham, Luigi Grassi, Lynn Greenhalgh, Andreas Greinacher, Paolo Gresele, Philip Griffiths, Sofia Grigoriadou, Detelina Grozeva, Mark Gurnell, Scott Hackett, Charaka Hadinnapola, Rosie Hague, William M. Hague, Matthias Haimel, Matthew Hall, Helen L. Hanson, Eshika Haque, Kirsty Harkness, Andrew R. Harper, Claire L. Harris, Daniel Hart, Ahamad Hassan, Grant Hayman, Alex Henderson, Archana Herwadkar, Jonathan Hoffman, Rita Horvath, Henry Houlden, Arjan C. Houweling, Fengyuan Hu, Gavin Hudson, Aarnoud P. Huissoon, Matthew Hurles, Melita Irving, Louise Izatt, Roger James, Sally A. Johnson, Stephen Jolles, Jennifer Jolley, Dragana Josifova, Neringa Jurkute, Mary A. Kasanicki, Hanadi Kazkaz, Rashid Kazmi, Peter Kelleher, Anne M Kelly, Wilf Kelsall, Carly Kempster, Nathalie Kingston, Nils Koelling, Myrto Kostadima, Ania Koziell, Roman Kreuzhuber, Taco W. Kuijpers, Ajith Kumar, Dinakantha Kumararatne, Manju A. Kurian, Michael A. Laffan, Fiona Lalloo, Michele Lambert, Hana Lango Allen, D. Mark Layton, Claire Lentaigne, Tracy Lester, Adam P. Levine, Rachel Linger, Hilary Longhurst, Lorena E. Lorenzo, Eleni Louka, Paul A. Lyons, Bella Madan, Eamonn R. Maher, Jesmeen Maimaris, Samantha Malka, Sarah Mangles, Rutendo Mapeta, Kevin J. Marchbank, Stephen Marks, Hugh S. Markus, Hanns-Ulrich Marschall, Andrew Marshall, Mary Mathias, Emma Matthews, Heather Maxwell, Paul McAlinden, Mark I. McCarthy, Harriet McKinney, Stuart Meacham, Adam J. Mead, Sarju G. Mehta, Michel Michaelides, Carolyn Millar, Shehla N. Mohammed, Anthony T. Moore, Monika Mozere, Keith W. Muir, Andrew D. Mumford, Andrea H. Nemeth, William G. Newman, Michael Newnham, Sadia Noorani, Paquita Nurden, Jennifer O’Sullivan, Samya Obaji, Chris Odhams, Steven Okoli, Andrea Olschewski, Kai Ren Ong, S. Helen Oram, Elizabeth Ormondroyd, Willem H. Ouwehand, Claire Palles, Sofia Papadia, Soo-Mi Park, David Parry, Smita Patel, Joan Paterson, Andrew Peacock, Simon H. Pearce, Kathelijne Peerlinck, Romina Petersen, Clarissa Pilkington, Kenneth E.S. Poole, Bethan Psaila, Angela Pyle, Richard Quinton, Shamima Rahman, Anupama Rao, F. Lucy Raymond, Paula J. Rayner-Matthews, Augusto Rendon, Tara Renton, Andrew S.C. Rice, Alex Richter, Leema Robert, Irene Roberts, Sarah J. Rose, Robert Ross-Russell, Catherine Roughley, Noemi B.A. Roy, Deborah M. Ruddy, Omid Sadeghi-Alavijeh, Moin A. Saleem, Nilesh Samani, Crina Samarghitean, Alba Sanchis-Juan, Ravishankar B. Sargur, Robert N. Sarkany, Simon Satchell, Sinisa Savic, Genevieve Sayer, John A. Sayer, Laura Scelsi, Andrew M. Schaefer, Sol Schulman, Richard Scott, Marie Scully, Claire Searle, Arjune Sen, W.A. Carrock Sewell, Denis Seyres, Neil Shah, Olga Shamardina, Susan E. Shapiro, Adam C. Shaw, Keith Sibson, Lucy Side, Ilenia Simeoni, Michael A. Simpson, Matthew C. Sims, Suthesh Sivapalaratnam, Damian Smedley, Katherine R. Smith, Kenneth G.C. Smith, Katie Snape, Nicole Soranzo, Olivera Spasic-Boskovic, Simon Staines, Emily Staples, Hannah Stark, Kathleen E. Stirrups, Alex Stuckey, Petros Syrris, R. Campbell Tait, Kate Talks, Rhea Y.Y. Tan, Jenny C. Taylor, John M. Taylor, James E. Thaventhiran, Andreas C. Themistocleous, David Thomas, Ellen Thomas, Moira J. Thomas, Patrick Thomas, Kate Thomson, Adrian J. Thrasher, Chantal Thys, Marc Tischkowitz, Catherine Titterton, Cheng-Hock Toh, Ian P. Tomlinson, Matthew Traylor, Paul Treadaway, Salih Tuna, Ernest Turro, Philip Twiss, Tom Vale, Chris Van Geet, Natalie van Zuydam, Anthony M Vandersteen, Marta Vazquez-Lopez, Julie von Ziegenweidt, Annette Wagner, Quinten Waisfisz, Neil Walker, Suellen M. Walker, James S. Ware, Hugh Watkins, Christopher Watt, Andrew R. Webster, Lucy Wedderburn, Wei Wei, Steven B. Welch, Julie Wessels, Sarah K. Westbury, John-Paul Westwood, Deborah Whitehorn, James Whitworth, Andrew O.M. Wilkie, Catherine Williamson, Brian T. Wilson, Edwin K.S. Wong, Nicholas Wood, Yvette Wood, Christopher Geoffrey Woods, Emma R. Woodward, Austen Worth, Michael Wright, Katherine Yates, Patrick F.K. Yong, Timothy Young, Ping Yu, Patrick Yu-Wai-Man, Eliska Zlamalova, Russel Hirsch, R. James White, Marc Simon, David Badesch, Erika Rosenzweig, Charles Burger, Murali Chakinala, Thenappan Thenappan, Greg Elliott, Robert Simms, Harrison Farber, Robert Frantz, Jean Elwing, Nicholas Hill, Dunbar Ivy, James Klinger, Steven Nathan, Ronald Oudiz, Ivan Robbins, Robert Schilz, Terry Fortin, Jeffrey Wilt, Delphine Yung, Eric Austin, Ferhaan Ahmad, Nitin Bhatt, Tim Lahm, Adaani Frost, Zeenat Safdar, Zia Rehman, Robert Walter, Fernando Torres, Sahil Bakshi, Stephen Archer, Rahul Argula, Christopher Barnett, Raymond Benza, Ankit Desai, Veeranna Maddipati, University of Cambridge [UK] (CAM), Columbia University [New York], University of Sheffield [Sheffield], University of Cincinnati (UC), St George's, University of London, Vrije Universiteit Amsterdam [Amsterdam] (VU), Golden Jubilee National Hospital, Glasgow, Royal Free Hospital [London, UK], Heidelberg University Hospital [Heidelberg], Service de Génétique Cytogénétique et Embryologie [CHU Pitié-Salpêtrière], CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Unité de Recherche sur les Maladies Cardiovasculaires, du Métabolisme et de la Nutrition = Institute of cardiometabolism and nutrition (ICAN), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU), Technische Hochschule Mittelhessen - University of Applied Sciences [Giessen] (THM), Fondazione IRCCS Policlinico San Matteo, Hypertension pulmonaire : physiopathologie et innovation thérapeutique (HPPIT), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris-Saclay, Universität Heidelberg [Heidelberg], Addenbrooke's Hospital, Cambridge University Hospitals NHS Foundation Trust, Imperial College London, Royal Hallamshire Hospital, University of Graz, Freeman Hospital, Royal United Hospitals Bath (RUH), Great Ormond Street Hospital for Children [London] (GOSH), Royal Papworth Hospital, Cambridge Biomedical Campus, Cambridge, United Kingdom., King‘s College London, Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Karl-Franzens-Universität [Graz, Autriche], Pulmonary medicine, ACS - Pulmonary hypertension & thrombosis, Swietlik, Emilia [0000-0002-4095-8489], Megy, Karyn [0000-0002-2826-3879], Tilly, Tobias [0000-0002-6762-5342], Stephens, Jonathan [0000-0003-2020-9330], Toshner, Mark [0000-0002-3969-6143], Morrell, Nicholas [0000-0001-5700-9792], Graf, Stefan [0000-0002-1315-8873], Apollo - University of Cambridge Repository, Unité de Recherche sur les Maladies Cardiovasculaires, du Métabolisme et de la Nutrition = Research Unit on Cardiovascular and Metabolic Diseases (ICAN), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Institut de Cardiométabolisme et Nutrition = Institute of Cardiometabolism and Nutrition [CHU Pitié Salpêtrière] (IHU ICAN), 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 Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Karl-Franzens-Universität Graz, HAL-SU, Gestionnaire, British Heart Foundation, and The Academy of Medical Sciences

Subjects
0301 basic medicine, Candidate gene, Cardiac & Cardiovascular Systems, genetic association studies, 030204 cardiovascular system & hematology, Biology, Bayesian inference, 03 medical and health sciences, 0302 clinical medicine, Missing heritability problem, pulmonary hypertension, medicine, Family history, Gene, Genetics & Heredity, Genetics, family history, Science & Technology, [SDV.MHEP] Life Sciences [q-bio]/Human health and pathology, Kinase insert domain receptor, computed tomography, General Medicine, Original Articles, medicine.disease, Pulmonary hypertension, Phenotype, 3. Good health, 030104 developmental biology, Cardiovascular System & Cardiology, ComputingMethodologies_DOCUMENTANDTEXTPROCESSING, Life Sciences & Biomedicine, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology, vascular endothelial growth factor receptor
Abstract

Supplemental Digital Content is available in the text., Background: Approximately 25% of patients with pulmonary arterial hypertension (PAH) have been found to harbor rare mutations in disease-causing genes. To identify missing heritability in PAH, we integrated deep phenotyping with whole-genome sequencing data using Bayesian statistics. Methods: We analyzed 13 037 participants enrolled in the NBR study (NIHR BioResource—Rare Diseases), of which 1148 were recruited to the PAH domain. To test for genetic associations between genes and selected phenotypes of pulmonary hypertension, we used the Bayesian rare variant association method BeviMed. Results: Heterozygous, high impact, likely loss-of-function variants in the kinase insert domain receptor (KDR) gene were strongly associated with significantly reduced transfer coefficient for carbon monoxide (posterior probability=0.989) and older age at diagnosis (posterior probability=0.912). We also provide evidence for familial segregation of a rare nonsense KDR variant with these phenotypes. On computed tomographic imaging of the lungs, a range of parenchymal abnormalities were observed in the 5 patients harboring these predicted deleterious variants in KDR. Four additional PAH cases with rare likely loss-of-function variants in KDR were independently identified in the US PAH Biobank cohort with similar phenotypic characteristics. Conclusions: The Bayesian inference approach allowed us to independently validate KDR, which encodes for the VEGFR2 (vascular endothelial growth factor receptor 2), as a novel PAH candidate gene. Furthermore, this approach specifically associated high impact likely loss-of-function variants in the genetically constrained gene with distinct phenotypes. These findings provide evidence for KDR being a clinically actionable PAH gene and further support the central role of the vascular endothelium in the pathobiology of PAH.

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

Author

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

Subjects
Pulmonary and Respiratory Medicine, Parenchymal lung disease, Male, Pediatrics, medicine.medical_specialty, Time Factors, Adolescent, Newly diagnosed, Kaplan-Meier Estimate, Azithromycin, Risk Assessment, Severity of Illness Index, Low oxygen saturation, Cohort Studies, Adrenal Cortex Hormones, Cause of Death, medicine, Humans, Longitudinal Studies, Prospective Studies, Registries, Child, Oxygen saturation (medicine), Monitoring, Physiologic, business.industry, Interstitial lung disease, Infant, medicine.disease, Survival Analysis, Respiratory Function Tests, Europe, Child, Preschool, Breathing, Observational study, Drug Therapy, Combination, Female, business, Lung Diseases, Interstitial, Cohort study, Follow-Up Studies, Hydroxychloroquine
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 2

Published
2020
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8. Ivacaftor treatment of cystic fibrosis in children aged 12 to <24 months and with a CFTR gating mutation (ARRIVAL): a phase 3 single-arm study

Author

Margaret Rosenfeld, Claire E Wainwright, Mark Higgins, Linda T Wang, Charlotte McKee, Daniel Campbell, Simon Tian, Jennifer Schneider, Steve Cunningham, Jane C Davies, Claire E. Wainwright, Linda T. Wang, Jane C. Davies, William Harris, Peter Mogayzel, Karen McCoy, Carlos Milla, Ronald Rubenstein, Seth Walker, Philip Black, Gregory Montgomery, Susanna McColley, Peter Hiatt, Gregory Sawicki, Michael Rock, Paul Aurora, Felix Ratjen, Anirban Maitra, Andrew Ives, Erol Gaillard, Paul McNalley, Hiranjan Selvadurai, and Philip Robinson

Subjects
Male, Pediatrics, Cystic Fibrosis, Respiratory System, INFANTS, Cystic Fibrosis Transmembrane Conductance Regulator, Gating, Quinolones, GUIDELINES, Aminophenols, Cystic fibrosis, DISEASE, Ivacaftor, 0302 clinical medicine, Chloride Channel Agonists, biology, Cystic fibrosis transmembrane conductance regulator, Treatment Outcome, ARRIVAL study group, SAFETY, Mutation (genetic algorithm), Female, Life Sciences & Biomedicine, medicine.drug, Pulmonary and Respiratory Medicine, medicine.medical_specialty, YOUNG-CHILDREN, Canada, 03 medical and health sciences, Critical Care Medicine, 030225 pediatrics, General & Internal Medicine, medicine, Humans, In patient, Single Arm Study, Science & Technology, business.industry, Australia, Infant, G551D MUTATION, medicine.disease, EFFICACY, United Kingdom, United States, Clinical trial, 030228 respiratory system, Mutation, biology.protein, business
Abstract

BACKGROUND: Ivacaftor is generally safe and effective in patients aged 2 years and older who have cystic fibrosis and specific CFTR mutations. We assessed its use in children aged 12 to

Published
2018

9. Mutations in Outer Dynein Arm Heavy Chain DNAH9 Cause Motile Cilia Defects and Situs Inversus

Author

Siobhán B. Carr, Anne Aubusson-Fleury, Mellisa Dixon, Amelia Shoemark, Thomas Burgoyne, Jean-François Papon, Lucy Jenkins, Lucie Thomas, Claire Hogg, Robert A. Hirst, Estelle Escudier, Farheen Daudvohra, Hannah M. Mitchison, Bruno Louis, Andrew G. Nicholson, Mitali P. Patel, Pierrick le Borgne, Serge Amselem, Paul Aurora, Thomas Cullup, Michel Lemullois, Anne-Marie Tassin, Marie Legendre, Joseph Hayes, Mahmoud R. Fassad, Christopher O'Callaghan, Great Ormond Street Institute of Child Health (UCL), University College of London [London] (UCL), Alexandria University [Alexandrie], Royal Brompton and Harefield NHS Foundation Trust, University of Dundee, 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), CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), University of Leicester, Institut de Biologie Intégrative de la Cellule (I2BC), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Saclay-Centre National de la Recherche Scientifique (CNRS), Biogenèse et Fonction de la Structure Centriolaire et Ciliaire (BIOCIL), Département Biologie Cellulaire (BioCell), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Saclay-Centre National de la Recherche Scientifique (CNRS)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Saclay-Centre National de la Recherche Scientifique (CNRS)-Institut de Biologie Intégrative de la Cellule (I2BC), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Saclay-Centre National de la Recherche Scientifique (CNRS)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Saclay-Centre National de la Recherche Scientifique (CNRS), IMRB - 'Biomechanics and Respiratory Apparatus' [Créteil] (U955 Inserm - UPEC), 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)-Institut National de la Santé et de la Recherche Médicale (INSERM)-IFR10-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Université Paris-Est Créteil Val-de-Marne - Faculté de médecine (UPEC Médecine), Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Biomécanique cellulaire et respiratoire (BCR), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12)-Centre National de la Recherche Scientifique (CNRS), Service d’ORL et de chirurgie cervico-faciale [CHU Le Kremlin-Bicêtre], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-AP-HP Hôpital Bicêtre (Le Kremlin-Bicêtre), Sorbonne Université - Faculté de Médecine (SU FM), Sorbonne Université (SU), Fondation pour la Recherche Médicale (DEQ20120323689) Legs Poix from the Chancellerie des Universités Investissements d’Avenir (RaDiCo program, ANR-10-COHO-0003). Action Medical Research (GN2101, H.M.M.)Great Ormond Street Children’s Charity grant (V4515, H.M.M.)Leadership awards (V1299, V2217, H.M.M.).British Council Newton-Mosharafa Fund and the Ministry of Higher Education, Egypt.National Institute of Health Research and Health Education England. The authors participate in the COST Action BEAT-PCD: Better Evidence to Advance Therapeutic options for PCD network (BM1407) BM1407 COST Action STSM Grants, ANR-10-COHO-0003,RADICO,Cohorte nationale maladies rares(2010), Physiopathologie des maladies génétiques d'expression pédiatrique, Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de génétique et embryologie médicales [CHU Trousseau], Maladies génétiques d'expression pédiatrique [CHU Trousseau] (Inserm U933), and UF de Génétique moléculaire [CHU Trousseau]

Subjects
0301 basic medicine, Male, Adolescent, Mucociliary clearance, diagnosis, [SDV]Life Sciences [q-bio], Dynein, Respiratory System, primary ciliary dyskinesia, Biology, tomography, situs inversus, [SDV.MHEP.PSR]Life Sciences [q-bio]/Human health and pathology/Pulmonology and respiratory tract, Motor protein, 03 medical and health sciences, 0302 clinical medicine, Report, medicine, Humans, genetics, Amino Acid Sequence, Cilia, motile cilia, Child, genes, Genetics (clinical), Primary ciliary dyskinesia, dynein, Cilium, Dyneins, High-Throughput Nucleotide Sequencing, Axonemal Dyneins, medicine.disease, 3. Good health, Cell biology, DNAH9, Situs inversus, dyskinesia, 030104 developmental biology, 030228 respiratory system, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Child, Preschool, Motile cilium, Outer dynein arm, mutation, Sequence Alignment, Ciliary Motility Disorders
Abstract

International audience; Motile cilia move body fluids and gametes and the beating of cilia lining the airway epithelial surfaces ensures that they are kept clear and protected from inhaled pathogens and consequent respiratory infections. Dynein motor proteins provide mechanical force for cilia beating. Dynein mutations are a common cause of primary ciliary dyskinesia (PCD), an inherited condition characterized by deficient mucociliary clearance and chronic respiratory disease coupled with laterality disturbances and subfertility. Using next-generation sequencing, we detected mutations in the ciliary outer dynein arm (ODA) heavy chain gene DNAH9 in individuals from PCD clinics with situs inversus and in one case male infertility. DNAH9 and its partner heavy chain DNAH5 localize to type 2 ODAs of the distal cilium and in DNAH9-mutated nasal respiratory epithelial cilia we found a loss of DNAH9/DNAH5-containing type 2 ODAs that was restricted to the distal cilia region. This confers a reduced beating frequency with a subtle beating pattern defect affecting the motility of the distal cilia portion. 3D electron tomography ultrastructural studies confirmed regional loss of ODAs from the distal cilium, manifesting as either loss of whole ODA or partial loss of ODA volume. Paramecium DNAH9 knockdown confirms an evolutionarily conserved function for DNAH9 in cilia motility and ODA stability. We find that DNAH9 is widely expressed in the airways, despite DNAH9 mutations appearing to confer symptoms restricted to the upper respiratory tract. In summary, DNAH9 mutations reduce cilia function but some respiratory mucociliary clearance potential may be retained, widening the PCD disease spectrum.

Published
2018
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10. Pulmonary function deficits in newborn screened infants with cystic fibrosis managed with standard UK care are mild and transient

Author

Janet Stocks, Lucy Brennan, Lena P. Thia, Gwyneth Davies, Sooky Lum, Siobhán B. Carr, Simon Lee, Philippa Cottam, C Wallis, Andrew Bush, Jane Chudleigh, Ah-Fong Hoo, Joanne Miles, Angie Wade, Ian M. Balfour-Lynn, Jane Kirkby, Paul Aurora, and Hilary Wyatt

Subjects
Pulmonary and Respiratory Medicine, Male, Pediatrics, medicine.medical_specialty, Cystic Fibrosis, Functional Residual Capacity, Respiratory System, CHILDREN, Disease, Lung Clearance Index, FUNCTION TESTS, Cystic fibrosis, LUNG CLEARANCE INDEX, DISEASE, Pulmonary function testing, CLINICAL-TRIAL, 03 medical and health sciences, 0302 clinical medicine, Functional residual capacity, Neonatal Screening, AGE, Forced Expiratory Volume, END-POINTS, INFECTION, medicine, Plethysmograph, Humans, 030212 general & internal medicine, Lung, Science & Technology, business.industry, Infant, Newborn, Infant, 11 Medical And Health Sciences, medicine.disease, United Kingdom, EVOLUTION, Clinical trial, LIFE, London Cystic Fibrosis Collaboration (LCFC), 030228 respiratory system, Case-Control Studies, Regression Analysis, Female, Abnormality, business, Life Sciences & Biomedicine
Abstract

With the advent of novel designer molecules for cystic fibrosis (CF) treatment, there is huge need for early-life clinical trial outcomes, such as infant lung function (ILF). We investigated the degree and tracking of ILF abnormality during the first 2 years of life in CF newborn screened infants.Forced expiratory volume in 0.5 s (FEV0.5), lung clearance index (LCI) and plethysmographic functional residual capacity were measured at ∼3 months, 1 year and 2 years in 62 infants with CF and 34 controls.By 2 years there was no significant difference in FEV0.5 z-score between CF and controls, whereas mean LCI z-score was 0.81 (95% CI 0.45–1.17) higher in CF. However, there was no significant association between LCI z-score at 2 years with either 3-month or 1-year results. Despite minimal average group changes in any ILF outcome during the second year of life, marked within-subject changes occurred. No child had abnormal LCI or FEV0.5 on all test occasions, precluding the ability to identify “high-risk” infants in early life.In conclusion, changes in lung function are mild and transient during the first 2 years of life in newborn screened infants with CF when managed according to a standardised UK treatment protocol. Their potential role in tracking disease to later childhood will be ascertained by ongoing follow-up.

Published
2017

11. Multiple-breath washout as a lung function test in cystic fibrosis. a cystic fibrosis foundation workshop report

Author

Margaret Rosenfeld, Jessica E. Pittman, Anders Lindblad, Wayne J. Morgan, Paul Aurora, Padmaja Subbarao, Tim D. Starner, Graham L. Hall, Paul Robinson, Jane C. Davies, Sonya L. Heltshe, Florian Singer, Carlos Milla, Felix Ratjen, Stephanie D. Davis, Philipp Latzin, University of Zurich, and Subbarao, Padmaja

Subjects
Pulmonary and Respiratory Medicine, medicine.medical_specialty, breath washout, 610 Medicine & health, Lung Clearance Index, Cystic fibrosis, pulmonary function tests, Pulmonary function testing, cystic fibrosis, Forced Expiratory Volume, Outcome Assessment, Health Care, medicine, Humans, In patient, Letters, Intensive care medicine, MULTIPLE BREATH WASHOUT, Lung function, Monitoring, Physiologic, business.industry, Infant, Newborn, Infant, Reproducibility of Results, Prognosis, medicine.disease, Respiratory Function Tests, Clinical trial, multiple, Breath Tests, Lung disease, 10036 Medical Clinic, 2740 Pulmonary and Respiratory Medicine, Child, Preschool, Disease Progression, lung clearance index, Flowmeters, business
Abstract

The lung clearance index (LCI) is a lung function parameter derived from the multiple-breath washout (MBW) test. Although first developed 60 years ago, the technique was not widely used for many years. Recent technological advances in equipment design have produced gains in popularity for this test among cystic fibrosis (CF) researchers and clinicians, particularly for testing preschool-aged children. LCI has been shown to be feasible and sensitive to early CF lung disease in patients of all ages from infancy to adulthood. A workshop was convened in January 2014 by the North American Cystic Fibrosis Foundation to determine the readiness of the LCI for use in multicenter clinical trials as well as clinical care. The workshop concluded that the MBW text is a valuable potential outcome measure for CF clinical trials in preschool-aged patients and in older patients with FEV1 in the normal range. However, gaps in knowledge about the choice of device, gas, and standardization across systems are key issues precluding its use as a clinical trial end point in infants. Based on the current evidence, there are insufficient data to support the use of LCI or MBW parameters in the routine clinical management of patients with CF.

Published
2015

12. Paediatrics in Barcelona: highlights from the 2010 ERS Annual Congress

Author

Felix Ratjen, Robert Ross-Russell, G. Hedlin, Ernst Eber, Steve Turner, Paul Aurora, Fabio Midulla, K. C. Lødrup Carlsen, and J. E. Dankert-Roelse

Subjects
Pulmonary and Respiratory Medicine, medicine.medical_specialty, asthma, bronchoscopy, cystic fibrosis, epidemiology, lung function, respiratory infection, Respiratory tract infections, business.industry, Paediatric intensive care, Respiratory disease, Respiratory infection, Context (language use), Respiratory physiology, medicine.disease, Epidemiology, medicine, Intensive care medicine, business, Asthma
Abstract

The aim of this update is to describe the paediatric highlights from the 2010 European Respiratory Society Annual Congress in Barcelona, Spain. Abstracts from the seven groups of the Paediatric Assembly (Respiratory physiology, Asthma and allergy, Cystic fibrosis, Respiratory infection and immunology, Neonatology and paediatric intensive care, Respiratory epidemiology and Bronchology) are presented in the context of the current literature.

Published
2011

13. The Registry of the International Society for Heart and Lung Transplantation: Fourteenth Pediatric Lung and Heart-Lung Transplantation Report-2011

Author

Josef Stehlik, Marshall I. Hertz, Fabienne Dobbels, Anna Y. Kucheryavaya, Christian Benden, Richard Kirk, Jason D. Christie, Paul Aurora, Leah B. Edwards, Axel O. Rahmel, University of Zurich, and Hertz, Marshall I

Subjects
Pulmonary and Respiratory Medicine, Heart Defects, Congenital, Reoperation, medicine.medical_specialty, Pediatrics, Adolescent, Cystic Fibrosis, Heart-Lung Transplantation, 2747 Transplantation, medicine.medical_treatment, Hypertension, Pulmonary, Bronchiolitis obliterans, 610 Medicine & health, Kaplan-Meier Estimate, 2705 Cardiology and Cardiovascular Medicine, Age Distribution, Cause of Death, Registry report, medicine, Living Donors, Lung transplantation, Humans, Registries, Child, Bronchiolitis Obliterans, Societies, Medical, Cause of death, Web site, Transplantation, Lung, business.industry, General surgery, Infant, respiratory system, medicine.disease, respiratory tract diseases, 2746 Surgery, surgical procedures, operative, medicine.anatomical_structure, 2740 Pulmonary and Respiratory Medicine, Child, Preschool, Surgery, 10178 Clinic for Pneumology, Cardiology and Cardiovascular Medicine, business, Lung Transplantation
Abstract

This Fourteenth Pediatric Lung and Heart-Lung Transplantation Report covers the pediatric lung transplantation and heart-lung transplantation experience from January 1986 through June 2010. During this period, 1,664 pediatric lung transplant procedures and 653 pediatric heart-lung transplant procedures were reported to the International Society for Heart and Lung Transplantation (ISHLT) Registry. It is important to note that recent figures include pediatric lung and heart-lung transplant procedures dating back to 1987 that were previously not reported to the ISHLT Registry but were retrospectively entered in 2010. In 2009, the last complete year included in this year’s ISHLT Registry report, 127 pediatric lung transplant procedures were reported, which is an increase of 43% compared with 2004. These figures, however, include only the pediatric lung transplant procedures that were reported to the ISHLT Registry and do not necessarily reflect the trend in numbers of pediatric lung procedures performed worldwide. This pediatric lung and heart-lung transplantation report includes a summary of the data analyses performed by the Registry this year and is supplemented by further analyses and additional figures that are available on the ISHLT Registry Web site (www.ishlt.org/registries). This report does not include detailed analyses and figures for pediatric heartlung transplantation because this information has been presented in previous reports and the number of pediatric

Published
2011

14. Paediatrics in Vienna

Author

Fabio Midulla, G. Hedlin, Paul Aurora, Paulus Brand, Claudia E. Kuehni, Felix Ratjen, Robert Ross-Russell, J. E. Dankert-Roelse, Faculteit Medische Wetenschappen/UMCG, and Groningen Research Institute for Asthma and COPD (GRIAC)

Subjects
Pulmonary and Respiratory Medicine, EXHALED NITRIC-OXIDE, medicine.medical_specialty, Pediatrics, PRESCHOOL-CHILDREN, bronchoscopy, DISORDERS, PHENOTYPES, Respiratory physiology, 1ST 6 YEARS, cystic fibrosis, respiratory infection, Epidemiology, medicine, Intensive care medicine, Lung function, Respiratory health, Asthma, Childhood asthma, CYSTIC-FIBROSIS, business.industry, ACETAMINOPHEN USE, Paediatric intensive care, Respiratory infection, CHILDHOOD ASTHMA, lung function, medicine.disease, asthma, epidemiology, RESPIRATORY HEALTH, business, LATENT CLASS ANALYSIS
Abstract

The aim of this article is to describe the paediatric highlights from the 2009 European Respiratory Society Annual Congress in Vienna, Austria. The best abstracts from the seven groups of the Paediatric Assembly (asthma and allergy, respiratory epidemiology, cystic fibrosis, respiratory physiology, respiratory infections and immunology, neonatology and paediatric intensive care, and bronchology) are presented alongside findings from the current literature.

Published
2010

15. Lung transplantation for cystic fibrosis

Author

Marlyn S. Woo, Stuart C. Sweet, Theodore G. Liou, David H. Barker, Elianne J.L.E. Vrijlandt, Otto H Bosma, Judy L. Jensen, Samuel M. Brown, Erik A M Verschuuren, Frederick R. Adler, Wim van der Bij, Mark L. Barr, William Robert Walsh, Geoffrey Kurland, Walter M Robinson, J Vermeulen, G.D. Nossent, Helen Spencer, Laura S. Blackwell, David Cox, Sandy L. Romero, Alexandra L. Quittner, Paul Aurora, Groningen Institute for Organ Transplantation (GIOT), and Groningen Research Institute for Asthma and COPD (GRIAC)

Subjects
Pulmonary and Respiratory Medicine, medicine.medical_specialty, Pathology, Cystic Fibrosis, medicine.medical_treatment, Population, Context (language use), Research Support, Cystic fibrosis, N.I.H, Quality of life, Research Support, N.I.H., Extramural, medicine, Journal Article, Survival advantage, Lung transplantation, Humans, Roundtable Discussion, education, Intensive care medicine, Non-U.S. Gov't, Child, Clinical Conference, education.field_of_study, Lung, business.industry, Research Support, Non-U.S. Gov't, Extramural, medicine.disease, Transplantation, medicine.anatomical_structure, surgical procedures, operative, business, Lung Transplantation
Abstract

Lung transplantation is a complex, high-risk, potentially life-saving therapy for the end-stage lung disease of cystic fibrosis (CF). The decision to pursue transplantation involves comparing the likelihood of survival with and without transplantation as well as assessing the effect of wait-listing and transplantation on the patient's quality of life. Although recent population-based analyses of the US lung allocation system for the CF population have raised controversies about the survival benefits of transplantation, studies from the United Kingdom and Canada have suggested a definite survival advantage for those receiving transplants. In response to these and other controversies, leaders in transplantation and CF met together in Lansdowne, Virginia, to consider the state of the art in lung transplantation for CF in an international context, focusing on advances in surgical technique, measurement of outcomes, use of prognostic criteria, variations in local control over listing, and prioritization among the United States, Canada, the United Kingdom, and The Netherlands, patient adherence before and after transplantation and other issues in the broader context of lung transplantation. Finally, the conference members carefully considered how efforts to improve outcomes for lung transplantation for CF lung disease might best be studied. This Roundtable seeks to communicate the substance of our discussions.

Published
2009

16. INCREASED MORTALITY AFTER PULMONARY FUNGAL INFECTION WITHIN THE FIRST YEAR AFTER PEDIATRIC LUNG TRANSPLANTATION

Author

Susana Arrigain, Melinda Solomon, Paul Aurora, Debra Boyer, Peter J. Mogayzel, Lara Danziger-Isakov, Samuel B. Goldfarb, Marian G. Michaels, Albert Faro, Stuart C. Sweet, Peter H. Michelson, Sarah Worley, Carol Conrad, Manfred Ballmann, Gary A. Visner, Okan Elidemir, Daiva Parakininkas, Irmgard Eichler, and George B. Mallory

Subjects
Pulmonary and Respiratory Medicine, Male, medicine.medical_specialty, Time Factors, Adolescent, medicine.medical_treatment, Article, Risk Factors, Internal medicine, Epidemiology, medicine, Lung transplantation, Humans, Child, Mycosis, Retrospective Studies, Transplantation, business.industry, Proportional hazards model, Hazard ratio, Retrospective cohort study, Pneumonia, medicine.disease, Surgery, Regimen, Mycoses, Female, Cardiology and Cardiovascular Medicine, business, Lung Transplantation
Abstract

Risk factors, morbidity and mortality from pulmonary fungal infections (PFIs) within the first year after pediatric lung transplant have not previously been characterized.A retrospective, multicenter study from 1988 to 2005 was conducted with institutional approval from the 12 participating centers in North America and Europe. Data were recorded for the first post-transplant year. The log-rank test assessed for the association between PFI and survival. Associations between time to PFI and risk factors were assessed by Cox proportional hazards models.Of the 555 subjects transplanted, 58 (10.5%) had 62 proven (Candida, Aspergillus or other) or probable (Aspergillus or other) PFIs within the first year post-transplant. The mean age for PFI subjects was 14.0 years vs 11.4 years for non-PFI subjects (p0.01). Candida and Aspergillus species were recovered equally for proven disease. Comparing subjects with PFI (n = 58) vs those without (n = 404), pre-transplant colonization was associated with PFI (hazard ratio [HR] 2.0; 95% CI 0.95 to 4.3, p = 0.067). Cytomegalovirus (CMV) mismatch, tacrolimus-based regimen and age15 years were associated with PFI (p0.05). PFI was associated with any prior rejection higher than Grade A2 (HR 2.1; 95% CI 1.2 to 3.6). Cystic fibrosis, induction therapy, transplant era and type of transplant were not associated with PFI. PFI was independently associated with decreased 12-month survival (HR 3.9, 95% CI 2.2 to 6.8).Risk factors for PFI include Grade A2 rejection, repeated acute rejection, CMV-positive donor, tacrolimus-based regimen and pre-transplant colonization.

Published
2008

17. An official American Thoracic Society/European Respiratory Society statement: pulmonary function testing in preschool children

Author

Paul Seddon, Karin C. Lødrup Carlsen, G. Michael Davis, J. Jane Pillow, Claude Gaultier, Michael Silverman, Howard Eigen, Julian L. Allen, P. Gustafsson, Stephanie D. Davis, Oscar H. Mayer, Ellie Oostveen, Michael J. R. Healy, Daphna Vilozni, Paul Aurora, Janet Stocks, Robert S. Tepper, Sheila A. McKenzie, Enrico Lombardi, Marcus Herbert Jones, Peter D. Sly, Hans Bisgaard, Nicola Wilson, Francçois Marchal, Graham L. Hall, Peter J. F. M. Merkus, Mohy G. Morris, Hubertus G.M. Arets, Zoltán Hantos, Monika Gappa, Bent Klug, Francine M. Ducharme, and Nicole Beydon

Subjects
Lung Diseases, Quality Control, Pulmonary and Respiratory Medicine, medicine.medical_specialty, Functional Residual Capacity, Statement (logic), Bronchial provocation tests, Critical Care and Intensive Care Medicine, Bronchial Provocation Tests, Pulmonary function testing, Genomic disorders and inherited multi-system disorders [IGMD 3], Intensive care, Tidal Volume, medicine, Humans, Heart, lung and circulation [UMCN 2.1], Intensive care medicine, Reference standards, MULTIPLE BREATH WASHOUT, Respiratory Sounds, business.industry, Disease progression, Reference Standards, Respiratory Function Tests, Spirometry, Child, Preschool, Family medicine, Disease Progression, Human medicine, business
Abstract

Contains fulltext : 52933.pdf (Publisher’s version ) (Closed access)

Published
2007

18. Multiple breath inert gas washout as a measure of ventilation distribution in children with cystic fibrosis

Author

A Lindblad, Janet Stocks, Per M. Gustafsson, C Wallis, Andrew Bush, Paul Aurora, and C Oliver

Subjects
Pulmonary and Respiratory Medicine, Spirometry, medicine.medical_specialty, Vital capacity, medicine.diagnostic_test, Cystic Fibrosis, business.industry, Respiratory disease, Lung Clearance Index, medicine.disease, Cystic fibrosis, Gastroenterology, Surgery, El Niño, Internal medicine, medicine, Breathing, business, Cohort study
Abstract

Background: Multiple breath inert gas washout (MBW) has been suggested as a tool for detecting early cystic fibrosis (CF) lung disease. A study was undertaken to compare the relative sensitivity of MBW and spirometry for detecting abnormal lung function in school age children with CF and to compare MBW results obtained from healthy children in the UK with those recently reported from Sweden. Methods: Forced expiratory volume in 1 second (FEV1) and maximal expiratory flow when 25% of forced vital capacity remains to be expired (MEF25) were compared with the lung clearance index (LCI) derived from sulphur hexafluoride MBW in 22 children with CF aged 6–16 years and in 33 healthy controls. Results: LCI was higher in children with CF than in healthy controls (mean difference 5.1 (95% CI of difference 4.1 to 6.1) and FEV1 and MEF25 z-scores were lower (mean difference −2.3 (95% CI −2.9 to −1.7) and −1.8 (95% CI −2.4 to −1.3), respectively; p

Published
2004

20. 262 Growth outcomes in children with moderate-to-severe CF on an intensive exercise and dietetic programme

Author

E. Owen, S.A. Prasad, S.J. Ledger, R. Suri, J. Williams, and Paul Aurora

Subjects
Pulmonary and Respiratory Medicine, Moderate to severe, Pediatrics, medicine.medical_specialty, business.industry, Pediatrics, Perinatology and Child Health, medicine, Mathematics education, Pediatrics, Perinatology, and Child Health, business, medicine.disease, Cystic fibrosis
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