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1. Standards for the care of people with cystic fibrosis (CF); recognising and addressing CF health issues

Author

MMB, Infection & Immunity, Burgel, Pierre Régis, Southern, Kevin W., Addy, Charlotte, Battezzati, Alberto, Berry, Claire, Bouchara, Jean Philippe, Brokaar, Edwin, Brown, Whitney, Azevedo, Pilar, Durieu, Isabelle, Ekkelenkamp, Miquel, Finlayson, Felicity, Forton, Julian, Gardecki, Johanna, Hodkova, Pavla, Hong, Gina, Lowdon, Jacqueline, Madge, Su, Martin, Clémence, McKone, Edward, Munck, Anne, Ooi, Chee Y., Perrem, Lucy, Piper, Amanda, Prayle, Andrew, Ratjen, Felix, Rosenfeld, Margaret, Sanders, Don B., Schwarz, Carsten, Taccetti, Giovanni, Wainwright, Claire, West, Natalie E., Wilschanski, Michael, Bevan, Amanda, Castellani, Carlo, Drevinek, Pavel, Gartner, Silvia, Gramegna, Andrea, Lammertyn, Elise, Landau, Eddie (Edwina) C., Plant, Barry J., Smyth, Alan R., van Koningsbruggen-Rietschel, Silke, Middleton, Peter G., MMB, Infection & Immunity, Burgel, Pierre Régis, Southern, Kevin W., Addy, Charlotte, Battezzati, Alberto, Berry, Claire, Bouchara, Jean Philippe, Brokaar, Edwin, Brown, Whitney, Azevedo, Pilar, Durieu, Isabelle, Ekkelenkamp, Miquel, Finlayson, Felicity, Forton, Julian, Gardecki, Johanna, Hodkova, Pavla, Hong, Gina, Lowdon, Jacqueline, Madge, Su, Martin, Clémence, McKone, Edward, Munck, Anne, Ooi, Chee Y., Perrem, Lucy, Piper, Amanda, Prayle, Andrew, Ratjen, Felix, Rosenfeld, Margaret, Sanders, Don B., Schwarz, Carsten, Taccetti, Giovanni, Wainwright, Claire, West, Natalie E., Wilschanski, Michael, Bevan, Amanda, Castellani, Carlo, Drevinek, Pavel, Gartner, Silvia, Gramegna, Andrea, Lammertyn, Elise, Landau, Eddie (Edwina) C., Plant, Barry J., Smyth, Alan R., van Koningsbruggen-Rietschel, Silke, and Middleton, Peter G.

Published
2024

2. ALPINE2:Efficacy and safety of 14-day vs 28-day inhaled aztreonam for Pa eradication in children with cystic fibrosis

Author

Gilchrist, Francis J., Bui, Stephanie, Gartner, Silvia, McColley, Susanna A., Tiddens, Harm, Ruiz, Gary, Stehling, Florian, Alani, Muhsen, Gurtovaya, Oksana, Bresnik, Mark, Watkins, Timothy R., Frankovic, Biliana, Skov, Marianne, Gilchrist, Francis J., Bui, Stephanie, Gartner, Silvia, McColley, Susanna A., Tiddens, Harm, Ruiz, Gary, Stehling, Florian, Alani, Muhsen, Gurtovaya, Oksana, Bresnik, Mark, Watkins, Timothy R., Frankovic, Biliana, and Skov, Marianne

Abstract

Background: Antibiotic eradication therapies recommended for newly isolated Pseudomonas aeruginosa (Pa) in people with cystic fibrosis (pwCF) can be burdensome. ALPINE2 compared the efficacy and safety of a shortened 14-day course of aztreonam for inhalation solution (AZLI) with 28-day AZLI in paediatric pwCF. Methods: ALPINE2 (a double-blind, phase 3b study) included children aged 3 months to <18 years with CF and new-onset Pa infection. Participants were randomized to receive 75 mg AZLI three times daily for either 28 or 14 days followed by 14 days' matched placebo. The primary endpoint was rate of primary Pa eradication (no Pa detected during the 4 weeks post AZLI treatment). Non-inferiority was achieved if the lower 95% CI bound of the treatment difference between the two arms was above −20%. Secondary endpoints included assessments of Pa recurrence during 108 weeks of follow-up after primary eradication. Safety endpoints included treatment-emergent adverse events (TEAEs). Results: In total, 149 participants were randomized (14-day AZLI, n = 74; 28-day AZLI, n = 75) and 142 (95.3%) completed treatment. Median age: 6.0 years (range: 0.3–17.0). Baseline characteristics were similar between treatment arms. Primary Pa eradication rates: 14-day AZLI, 55.9%; 28-day AZLI, 63.4%; treatment difference (CI), −8.0% (−24.6, 8.6%). Pa recurrence rates at follow-up end: 14-day AZLI, 54.1% (n = 20/37); 28-day AZLI, 41.9% (n = 18/43). TEAEs were similar between treatment arms. No new safety signals were observed. Conclusions: Non-inferiority of 14-day AZLI versus 28-day AZLI was not demonstrated. Both courses were well tolerated, further supporting AZLI short-term safety in paediatric and adolescent pwCF. ClinicalTrials.gov

Published
2024

3. Standards for the care of people with cystic fibrosis; establishing and maintaining health

Author

Southern, Kevin W; https://orcid.org/0000-0001-6516-9083, Addy, Charlotte, Bell, Scott C; https://orcid.org/0000-0001-8651-7139, Bevan, Amanda, Borawska, Urzula, Brown, Catherine, Burgel, Pierre-Régis, Button, Brenda, Castellani, Carlo, Chansard, Audrey, Chilvers, Mark, Davies, Gwyneth, Davies, Jane C, De Boeck, Kris, Declercq, Dimitri, Doumit, Michael, Drevinek, Pavel, Fajac, Isabelle, Gartner, Silvia, Georgiopoulos, Anna M, Gursli, Sandra, Gramegna, Andrea, Hansen, Carina M E, Hug, Martin J, Lammertyn, Elise, Landau, Edwina (Eddie) C, Langley, Ross, Mayer-Hamblett, Nicole, Middleton, Anna, Middleton, Peter G, Radtke, Thomas; https://orcid.org/0000-0002-1723-1070, et al, Southern, Kevin W; https://orcid.org/0000-0001-6516-9083, Addy, Charlotte, Bell, Scott C; https://orcid.org/0000-0001-8651-7139, Bevan, Amanda, Borawska, Urzula, Brown, Catherine, Burgel, Pierre-Régis, Button, Brenda, Castellani, Carlo, Chansard, Audrey, Chilvers, Mark, Davies, Gwyneth, Davies, Jane C, De Boeck, Kris, Declercq, Dimitri, Doumit, Michael, Drevinek, Pavel, Fajac, Isabelle, Gartner, Silvia, Georgiopoulos, Anna M, Gursli, Sandra, Gramegna, Andrea, Hansen, Carina M E, Hug, Martin J, Lammertyn, Elise, Landau, Edwina (Eddie) C, Langley, Ross, Mayer-Hamblett, Nicole, Middleton, Anna, Middleton, Peter G, Radtke, Thomas; https://orcid.org/0000-0002-1723-1070, and et al

Published
2024

4. Incidence and Prevalence of Children's Diffuse Lung Disease in Spain

Author

Sociedad Española de Neumología Pediátrica, European Commission, Sociedad Española de Neumología y Cirugía Torácica, Instituto de Salud Carlos III, Torrent-Vernetta, Alba [0000-0002-3575-2427], Gaboli, Mirella [0000-0002-1600-0916], Castillo-Corullón, Silvia [0000-0002-0121-2676], Mondéjar-López, Pedro [0000-0003-0145-0583], Sanz Santiago, Verónica [0000-0003-3368-8393], Costa-Colomer, Jordi [0000-0001-5530-2661], Osona, Borja [0000-0001-6337-0269], Bellón Alonso, Sara [0000-0001-9917-6919], Caro Aguilera, Pilar [0000-0003-2807-1153], Gimeno-Díaz de Atauri, Álvaro [0000-0003-4775-892X], Ayats, Roser [0000-0002-5245-9847], Canino Calderín, Elisa María0000-0002-6452-7843, Pastor, María Dolores [0000-0001-8917-4709], Rovira-Amigo, Sandra [0000-0001-9896-0621], Iglesias Serrano, Ignacio [0000-0002-2171-7508], Díez Izquierdo, Ana [0000-0002-0471-2991], Mir Messa, Inés de [0000-0002-1418-4563], Gartner, Silvia [0000-0002-8190-5092], Baz-Redón, Noelia [0000-0003-1704-3413], Carmona, Rosario [0000-0002-4235-2886], Camats-Tarruella, Núria [0000-0002-4863-8201], Fernández-Cancio, Mónica [0000-0003-1872-3488], Rapp, Christina [0000-0002-7371-8158], Dopazo, Joaquín [0000-0003-3318-120X], Griese, Matthias [0000-0003-0113-912X], Moreno-Galdó, Antonio [0000-0002-2496-9786], Torrent-Vernetta, Alba, Gaboli, Mirella, Castillo-Corullón, Silvia, Mondéjar-López, Pedro, Sanz Santiago, Verónica, Costa-Colomer, Jordi, Osona, Borja, Torres-Borrego, Javier, Serna-Blázquez, Olga de la, Bellón Alonso, Sara, Caro Aguilera, Pilar, Gimeno-Díaz de Atauri, Álvaro, Valenzuela Soria, Alfredo, Ayats, Roser, Martín de Vicente, Carlos, Velasco González, Valle, Moure González, José Domingo, Canino Calderín, Elisa María, Pastor, María Dolores, Villar Álvarez, María Ángeles, Rovira-Amigo, Sandra, Iglesias Serrano, Ignacio, Díez Izquierdo, Ana, Mir Messa, Inés de, Gartner, Silvia, Navarro, Alexandra, Baz-Redón, Noelia, Carmona, Rosario, Camats-Tarruella, Núria, Fernández-Cancio, Mónica, Rapp, Christina, Dopazo, Joaquín, Griese, Matthias, Moreno-Galdó, Antonio, Sociedad Española de Neumología Pediátrica, European Commission, Sociedad Española de Neumología y Cirugía Torácica, Instituto de Salud Carlos III, Torrent-Vernetta, Alba [0000-0002-3575-2427], Gaboli, Mirella [0000-0002-1600-0916], Castillo-Corullón, Silvia [0000-0002-0121-2676], Mondéjar-López, Pedro [0000-0003-0145-0583], Sanz Santiago, Verónica [0000-0003-3368-8393], Costa-Colomer, Jordi [0000-0001-5530-2661], Osona, Borja [0000-0001-6337-0269], Bellón Alonso, Sara [0000-0001-9917-6919], Caro Aguilera, Pilar [0000-0003-2807-1153], Gimeno-Díaz de Atauri, Álvaro [0000-0003-4775-892X], Ayats, Roser [0000-0002-5245-9847], Canino Calderín, Elisa María0000-0002-6452-7843, Pastor, María Dolores [0000-0001-8917-4709], Rovira-Amigo, Sandra [0000-0001-9896-0621], Iglesias Serrano, Ignacio [0000-0002-2171-7508], Díez Izquierdo, Ana [0000-0002-0471-2991], Mir Messa, Inés de [0000-0002-1418-4563], Gartner, Silvia [0000-0002-8190-5092], Baz-Redón, Noelia [0000-0003-1704-3413], Carmona, Rosario [0000-0002-4235-2886], Camats-Tarruella, Núria [0000-0002-4863-8201], Fernández-Cancio, Mónica [0000-0003-1872-3488], Rapp, Christina [0000-0002-7371-8158], Dopazo, Joaquín [0000-0003-3318-120X], Griese, Matthias [0000-0003-0113-912X], Moreno-Galdó, Antonio [0000-0002-2496-9786], Torrent-Vernetta, Alba, Gaboli, Mirella, Castillo-Corullón, Silvia, Mondéjar-López, Pedro, Sanz Santiago, Verónica, Costa-Colomer, Jordi, Osona, Borja, Torres-Borrego, Javier, Serna-Blázquez, Olga de la, Bellón Alonso, Sara, Caro Aguilera, Pilar, Gimeno-Díaz de Atauri, Álvaro, Valenzuela Soria, Alfredo, Ayats, Roser, Martín de Vicente, Carlos, Velasco González, Valle, Moure González, José Domingo, Canino Calderín, Elisa María, Pastor, María Dolores, Villar Álvarez, María Ángeles, Rovira-Amigo, Sandra, Iglesias Serrano, Ignacio, Díez Izquierdo, Ana, Mir Messa, Inés de, Gartner, Silvia, Navarro, Alexandra, Baz-Redón, Noelia, Carmona, Rosario, Camats-Tarruella, Núria, Fernández-Cancio, Mónica, Rapp, Christina, Dopazo, Joaquín, Griese, Matthias, and Moreno-Galdó, Antonio

Abstract

[Background] Children's diffuse lung disease, also known as children's Interstitial Lung Diseases (chILD), are a heterogeneous group of rare diseases with relevant morbidity and mortality, which diagnosis and classification are very complex. Epidemiological data are scarce. The aim of this study was to analyse incidence and prevalence of chILD in Spain., [Methods] Multicentre observational prospective study in patients from 0 to 18 years of age with chILD to analyse its incidence and prevalence in Spain, based on data reported in 2018 and 2019., [Results] A total of 381 cases with chILD were notified from 51 paediatric pulmonology units all over Spain, covering the 91.7% of the paediatric population. The average incidence of chILD was 8.18 (CI 95% 6.28–10.48) new cases/million of children per year. The average prevalence of chILD was 46.53 (CI 95% 41.81–51.62) cases/million of children. The age group with the highest prevalence were children under 1 year of age. Different types of disorders were seen in children 2–18 years of age compared with children 0–2 years of age. Most frequent cases were: primary pulmonary interstitial glycogenosis in neonates (17/65), neuroendocrine cell hyperplasia of infancy in infants from 1 to 12 months (44/144), idiopathic pulmonary haemosiderosis in children from 1 to 5 years old (13/74), hypersensitivity pneumonitis in children from 5 to 10 years old (9/51), and scleroderma in older than 10 years old (8/47)., [Conclusions] We found a higher incidence and prevalence of chILD than previously described probably due to greater understanding and increased clinician awareness of these rare diseases., [Antecedentes] Las neumopatías intersticiales pediátricas, también conocidas con el acrónimo chILD (del inglés children's Interstitial Lung Diseases), es un grupo heterogéneo de enfermedades raras con morbimortalidad relevante, cuyo diagnóstico y clasificación son complejos. Los estudios epidemiológicos son escasos. El objetivo de este trabajo fue analizar la incidencia y la prevalencia de chILD en España., [Métodos] Estudio prospectivo observacional multicéntrico en pacientes de 0 a 18 años afectos de chILD para analizar la incidencia y la prevalencia en España, a partir de datos recogidos en 2018 y 2019., [Resultados] Se recogieron 381 casos de chILD entre 51 unidades de neumología pediátrica de toda España, que cubrían el 91,7% de la población pediátrica. La incidencia promedio fue 8,18 (IC 95%: 6,28-10,48) casos nuevos/millón de niños por año. La prevalencia promedio fue de 46,53 (IC 95%: 41,81-51,62) casos/millón de niños. El grupo de edad con mayor prevalencia fue el de niños menores de un año. Se observaron diferentes entidades en niños de 2 a 18 años en comparación con niños de 0 a 2 años. Los diagnósticos más frecuentes fueron: glucogenosis intersticial pulmonar primaria en neonatos (17/65), hiperplasia de células neuroendocrinas en lactantes de uno a 12 meses (44/144), hemosiderosis pulmonar idiopática en niños de uno a 5 años (13/74), neumonía por hipersensibilidad en niños de 5 a 10 años (9/51) y esclerodermia en mayores de 10 años (8/47)., [Conclusiones] Encontramos una mayor incidencia y prevalencia de chILD que las descritas previamente, probablemente debido a un mayor conocimiento y detección de estas enfermedades raras.

Published
2022

5. European survey of newborn bloodspot screening for CF: opportunity to address challenges and improve performance

Author

Longziekten patientenzorg, Child Health, Munck, Anne, Berger, Daria O, Southern, Kevin W, Carducci, Carla, de Winter-de Groot, Karin M, Gartner, Silvia, Kashirskaya, Nataliya, Linnane, Barry, Proesmans, Marijke, Sands, Dorota, Sommerburg, Olaf, Castellani, Carlo, Barben, Jürg, European CF Society Neonatal Screening Working Group (ECFS NSWG), Longziekten patientenzorg, Child Health, Munck, Anne, Berger, Daria O, Southern, Kevin W, Carducci, Carla, de Winter-de Groot, Karin M, Gartner, Silvia, Kashirskaya, Nataliya, Linnane, Barry, Proesmans, Marijke, Sands, Dorota, Sommerburg, Olaf, Castellani, Carlo, Barben, Jürg, and European CF Society Neonatal Screening Working Group (ECFS NSWG)

Published
2023

6. Standards of care for CFTR variant-specific therapy (including modulators) for people with cystic fibrosis

Author

Arts Assistenten Longziekten, Southern, Kevin W., Castellani, Carlo, Lammertyn, Elise, Smyth, Alan, VanDevanter, Donald, van Koningsbruggen-Rietschel, Silke, Barben, Jürg, Bevan, Amanda, Brokaar, Edwin, Collins, Sarah, Connett, Gary J., Daniels, Thomas W.V., Davies, Jane, Declercq, Dimitri, Gartner, Silvia, Gramegna, Andrea, Hamilton, Naomi, Hauser, Jenny, Kashirskaya, Nataliya, Kessler, Laurence, Lowdon, Jacqueline, Makukh, Halyna, Martin, Clémence, Morrison, Lisa, Nazareth, Dilip, Noordhoek, Jacquelien, O'Neill, Ciaran, Owen, Elizabeth, Oxley, Helen, Raraigh, Karen S., Raynal, Caroline, Robinson, Karen, Roehmel, Jobst, Schwarz, Carsten, Sermet, Isabelle, Shteinberg, Michal, Sinha, Ian, Takawira, Constance, van Mourik, Peter, Verkleij, Marieke, Waller, Michael D., Duff, Alistair, Arts Assistenten Longziekten, Southern, Kevin W., Castellani, Carlo, Lammertyn, Elise, Smyth, Alan, VanDevanter, Donald, van Koningsbruggen-Rietschel, Silke, Barben, Jürg, Bevan, Amanda, Brokaar, Edwin, Collins, Sarah, Connett, Gary J., Daniels, Thomas W.V., Davies, Jane, Declercq, Dimitri, Gartner, Silvia, Gramegna, Andrea, Hamilton, Naomi, Hauser, Jenny, Kashirskaya, Nataliya, Kessler, Laurence, Lowdon, Jacqueline, Makukh, Halyna, Martin, Clémence, Morrison, Lisa, Nazareth, Dilip, Noordhoek, Jacquelien, O'Neill, Ciaran, Owen, Elizabeth, Oxley, Helen, Raraigh, Karen S., Raynal, Caroline, Robinson, Karen, Roehmel, Jobst, Schwarz, Carsten, Sermet, Isabelle, Shteinberg, Michal, Sinha, Ian, Takawira, Constance, van Mourik, Peter, Verkleij, Marieke, Waller, Michael D., and Duff, Alistair

Published
2023

7. The Management of Asymptomatic Congenital Pulmonary Airway Malformation:Results of a European Delphi Survey

Author

Kersten, Casper M., Hermelijn, Sergei M., Mullassery, Dhanya, Muthialu, Nagarajan, Cobanoglu, Nazan, Gartner, Silvia, Bagolan, Pietro, Mesas Burgos, Carmen, Sgrò, Alberto, Heyman, Stijn, Till, Holger, Suominen, Janne, Schurink, Maarten, Desender, Liesbeth, Losty, Paul, Steyaert, Henri, Terheggen-Lagro, Suzanne, Metzelder, Martin, Bonnard, Arnaud, Sfeir, Rony, Singh, Michael, Yardley, Iain, Rikkers-Mutsaerts, Noor R.V.M., van der Ent, Cornelis K., Qvist, Niels, Cox, Des W., Peters, Robert, Bannier, Michiel A.G.E., Wessel, Lucas, Proesmans, Marijke, Stanton, Michael, Hannon, Edward, Zampoli, Marco, Morini, Francesco, Tiddens, Harm A.W.M., Wijnen, René M.H., Schnater, Johannes M., Kersten, Casper M., Hermelijn, Sergei M., Mullassery, Dhanya, Muthialu, Nagarajan, Cobanoglu, Nazan, Gartner, Silvia, Bagolan, Pietro, Mesas Burgos, Carmen, Sgrò, Alberto, Heyman, Stijn, Till, Holger, Suominen, Janne, Schurink, Maarten, Desender, Liesbeth, Losty, Paul, Steyaert, Henri, Terheggen-Lagro, Suzanne, Metzelder, Martin, Bonnard, Arnaud, Sfeir, Rony, Singh, Michael, Yardley, Iain, Rikkers-Mutsaerts, Noor R.V.M., van der Ent, Cornelis K., Qvist, Niels, Cox, Des W., Peters, Robert, Bannier, Michiel A.G.E., Wessel, Lucas, Proesmans, Marijke, Stanton, Michael, Hannon, Edward, Zampoli, Marco, Morini, Francesco, Tiddens, Harm A.W.M., Wijnen, René M.H., and Schnater, Johannes M.

Abstract

Consensus on the optimal management of asymptomatic congenital pulmonary airway malformation (CPAM) is lacking, and comparison between studies remains difficult due to a large variety in outcome measures. We aimed to define a core outcome set (COS) for pediatric patients with an asymptomatic CPAM. An online, three-round Delphi survey was conducted in two stakeholder groups of specialized caregivers (surgeons and non-surgeons) in various European centers. Proposed outcome parameters were scored according to level of importance, and the final COS was established through consensus. A total of 55 participants (33 surgeons, 22 non-surgeons) from 28 centers in 13 European countries completed the three rounds and rated 43 outcome parameters. The final COS comprises seven outcome parameters: respiratory insufficiency, surgical complications, mass effect/mediastinal shift (at three time-points) and multifocal disease (at two time-points). The seven outcome parameters included in the final COS reflect the diversity in priorities among this large group of European participants. However, we recommend the incorporation of these outcome parameters in the design of future studies, as they describe measurable and validated outcomes as well as the accepted age at measurement.

Published
2022

8. The Management of Asymptomatic Congenital Pulmonary Airway Malformation: Results of a European Delphi Survey

Author

Longziekten patientenzorg, Speerpunt Child Health, Child Health, Infection & Immunity, Kersten, Casper M., Hermelijn, Sergei M., Mullassery, Dhanya, Muthialu, Nagarajan, Cobanoglu, Nazan, Gartner, Silvia, Bagolan, Pietro, Mesas Burgos, Carmen, Sgrò, Alberto, Heyman, Stijn, Till, Holger, Suominen, Janne, Schurink, Maarten, Desender, Liesbeth, Losty, Paul, Steyaert, Henri, Terheggen-Lagro, Suzanne, Metzelder, Martin, Bonnard, Arnaud, Sfeir, Rony, Singh, Michael, Yardley, Iain, Rikkers-Mutsaerts, Noor R.V.M., van der Ent, Cornelis K., Qvist, Niels, Cox, Des W., Peters, Robert, Bannier, Michiel A.G.E., Wessel, Lucas, Proesmans, Marijke, Stanton, Michael, Hannon, Edward, Zampoli, Marco, Morini, Francesco, Tiddens, Harm A.W.M., Wijnen, René M.H., Schnater, Johannes M., Longziekten patientenzorg, Speerpunt Child Health, Child Health, Infection & Immunity, Kersten, Casper M., Hermelijn, Sergei M., Mullassery, Dhanya, Muthialu, Nagarajan, Cobanoglu, Nazan, Gartner, Silvia, Bagolan, Pietro, Mesas Burgos, Carmen, Sgrò, Alberto, Heyman, Stijn, Till, Holger, Suominen, Janne, Schurink, Maarten, Desender, Liesbeth, Losty, Paul, Steyaert, Henri, Terheggen-Lagro, Suzanne, Metzelder, Martin, Bonnard, Arnaud, Sfeir, Rony, Singh, Michael, Yardley, Iain, Rikkers-Mutsaerts, Noor R.V.M., van der Ent, Cornelis K., Qvist, Niels, Cox, Des W., Peters, Robert, Bannier, Michiel A.G.E., Wessel, Lucas, Proesmans, Marijke, Stanton, Michael, Hannon, Edward, Zampoli, Marco, Morini, Francesco, Tiddens, Harm A.W.M., Wijnen, René M.H., and Schnater, Johannes M.

Published
2022

9. Development of a core outcome set for congenital pulmonary airway malformations: study protocol of an international Delphi survey

Author

Hermelijn, Sergei, Kersten, Casper, Mullassery, Dhanya, Muthialu, Nagarajan, Cobanoglu, Nazan, Gartner, Silvia, Schurink, M., Wijnen, R.M.H., Schnater, Marco, Hermelijn, Sergei, Kersten, Casper, Mullassery, Dhanya, Muthialu, Nagarajan, Cobanoglu, Nazan, Gartner, Silvia, Schurink, M., Wijnen, R.M.H., and Schnater, Marco

Abstract

Contains fulltext : 233479.pdf (Publisher’s version ) (Open Access)

Published
2021

10. Development of a core outcome set for congenital pulmonary airway malformations: study protocol of an international Delphi survey

Author

Hermelijn, Sergei, Kersten, Casper, Mullassery, Dhanya, Muthialu, Nagarajan, Cobanoglu, Nazan, Gartner, Silvia, Schurink, M., Wijnen, R.M.H., Schnater, Marco, Hermelijn, Sergei, Kersten, Casper, Mullassery, Dhanya, Muthialu, Nagarajan, Cobanoglu, Nazan, Gartner, Silvia, Schurink, M., Wijnen, R.M.H., and Schnater, Marco

Abstract

Contains fulltext : 233479.pdf (Publisher’s version ) (Open Access)

Published
2021

11. Impact of COVID-19 on people with cystic fibrosis

Author

Colombo, Carla, Burgel, Pierre-Regis, Gartner, Silvia, van Koningsbruggen-Rietschel, Silke, Naehrlich, Lutz, Sermet-Gaudelus, Isabelle, Southern, Kevin W., Colombo, Carla, Burgel, Pierre-Regis, Gartner, Silvia, van Koningsbruggen-Rietschel, Silke, Naehrlich, Lutz, Sermet-Gaudelus, Isabelle, and Southern, Kevin W.

Published
2020

12. Immunofluorescence Analysis as a Diagnostic Tool in a Spanish Cohort of Patients with Suspected Primary Ciliary Dyskinesia

Author

Baz-Redón, Noelia, Rovira-Amigo, Sandra, Fernández Cancio, Mónica, Castillo-Corullón, Silvia, Cols, Maria, Caballero-Rabasco, M. Araceli, Asensio, Óscar, Martín de Vicente, Carlos, Martínez-Colls, Maria del Mar, Torrent-Vernetta, Alba, de Mir-Messa, Inés, Gartner, Silvia, Iglesias-Serrano, Ignacio, Díez-Izquierdo, Ana, Polverino, Eva, Amengual-Pieras, Esther, Amaro-Rodríguez, Rosanel, Vendrell, Montserrat, Mumany, Marta, Pascual-Sánchez, María Teresa, Pérez-Dueñas, Belén, Reula, Ana, Escribano, Amparo, Dasí, Francisco, Armengot-Carceller, Miguel, Garrido-Pontnou, Marta, Camats Tarruella, Núria, Moreno Galdó, Antonio, Universitat Autònoma de Barcelona, Baz-Redón, Noelia, Rovira-Amigo, Sandra, Fernández Cancio, Mónica, Castillo-Corullón, Silvia, Cols, Maria, Caballero-Rabasco, M. Araceli, Asensio, Óscar, Martín de Vicente, Carlos, Martínez-Colls, Maria del Mar, Torrent-Vernetta, Alba, de Mir-Messa, Inés, Gartner, Silvia, Iglesias-Serrano, Ignacio, Díez-Izquierdo, Ana, Polverino, Eva, Amengual-Pieras, Esther, Amaro-Rodríguez, Rosanel, Vendrell, Montserrat, Mumany, Marta, Pascual-Sánchez, María Teresa, Pérez-Dueñas, Belén, Reula, Ana, Escribano, Amparo, Dasí, Francisco, Armengot-Carceller, Miguel, Garrido-Pontnou, Marta, Camats Tarruella, Núria, Moreno Galdó, Antonio, and Universitat Autònoma de Barcelona

Abstract

Primary ciliary dyskinesia (PCD) is an autosomal recessive rare disease caused by an alteration of ciliary structure. Immunofluorescence, consisting in the detection of the presence and distribution of cilia proteins in human respiratory cells by fluorescence, has been recently proposed as a technique to improve understanding of disease-causing genes and diagnosis rate in PCD. The objective of this study is to determine the accuracy of a panel of four fluorescently labeled antibodies (DNAH5, DNALI1, GAS8 and RSPH4A or RSPH9) as a PCD diagnostic tool in the absence of transmission electron microscopy analysis. The panel was tested in nasal brushing samples of 74 patients with clinical suspicion of PCD. Sixty-eight (91.9%) patients were evaluable for all tested antibodies. Thirty-three cases (44.6%) presented an absence or mislocation of protein in the ciliary axoneme (15 absent and 3 proximal distribution of DNAH5 in the ciliary axoneme, 3 absent DNAH5 and DNALI1, 7 absent DNALI1 and cytoplasmatic localization of GAS8, 1 absent GAS8, 3 absent RSPH9 and 1 absent RSPH4A). Fifteen patients had confirmed or highly likely PCD but normal immunofluorescence results (68.8% sensitivity and 100% specificity). In conclusion, immunofluorescence analysis is a quick, available, low-cost and reliable diagnostic test for PCD, althouh it cannot be used as a standalone test

Published
2020

13. 50 años del programa de cribado neonatal en Cataluña

Author

Marín Soria, José Luis, López Galera, Rosa María, Argudo Ramírez, Ana, González de Aledo Castillo, Jose Manuel, Pajares García, Sonia, Navarro Sastre, Aleix, Hernandez Pérez, Jose Mª, Mogas Viñals, Eduardo, Giralt Arnaiz, Marina, Campistol Plana, Jaume, Blanco Álvarez, Adoración, Murillo Sanjuán, Laura, García Volpe, C., Parra Martínez, Alba, Asensio de la Cruz, Óscar, Yeste Fernández, Diego, Clemente León, María, García Cazorla, Ángels, Beneitez Pastor, David, Roué, Gaël, Velasco Puyó, Pablo, Mañú Pereira, María del Mar, Toro Riera, M. del, Ferrer, R., de los Santos Mercedes, M., Ruiz Hernández, Carlos José, Soler Palacín, Pere, Vidal Benede, Mª José, Fernández Bardon, Rosa Mª, Asso Ministral, Laia, Cabezas Peña, Carmen, Ribes Rubió, Antònia, Gort Mas, Laura, García Villoria, Judit, Gartner, Silvia, Rovira Amigo, Sandra, García González, Miguel, Cols Roig, María, Costa Colomer, Jordi, Badenas, Cèlia, Campos Martorell, Ariadna, Ortuño Cabrero, Ana, Tazón, Barbara, Murciano, Thais, Díaz de Heredia Rubio, C., Vives Corrons, Joan Lluís, Arranz, José Antonio, Carnicer Cáceres, Clara, Ormazabal Herrero, Aida, Artuch Iriberri, Rafael, Rivière, Jacques G., Martínez Gallo, Mònica, Prats, Blanca, Armelles Sebastia, Mercedes, Jané Checa, Mireia, Sierra March, Cristina, Meavilla Olivas, S., Martín Nalda, Andrea, Colobran Oriol, Roger, Casals Senent, Teresa, Marín Soria, José Luis, López Galera, Rosa María, Argudo Ramírez, Ana, González de Aledo Castillo, Jose Manuel, Pajares García, Sonia, Navarro Sastre, Aleix, Hernandez Pérez, Jose Mª, Mogas Viñals, Eduardo, Giralt Arnaiz, Marina, Campistol Plana, Jaume, Blanco Álvarez, Adoración, Murillo Sanjuán, Laura, García Volpe, C., Parra Martínez, Alba, Asensio de la Cruz, Óscar, Yeste Fernández, Diego, Clemente León, María, García Cazorla, Ángels, Beneitez Pastor, David, Roué, Gaël, Velasco Puyó, Pablo, Mañú Pereira, María del Mar, Toro Riera, M. del, Ferrer, R., de los Santos Mercedes, M., Ruiz Hernández, Carlos José, Soler Palacín, Pere, Vidal Benede, Mª José, Fernández Bardon, Rosa Mª, Asso Ministral, Laia, Cabezas Peña, Carmen, Ribes Rubió, Antònia, Gort Mas, Laura, García Villoria, Judit, Gartner, Silvia, Rovira Amigo, Sandra, García González, Miguel, Cols Roig, María, Costa Colomer, Jordi, Badenas, Cèlia, Campos Martorell, Ariadna, Ortuño Cabrero, Ana, Tazón, Barbara, Murciano, Thais, Díaz de Heredia Rubio, C., Vives Corrons, Joan Lluís, Arranz, José Antonio, Carnicer Cáceres, Clara, Ormazabal Herrero, Aida, Artuch Iriberri, Rafael, Rivière, Jacques G., Martínez Gallo, Mònica, Prats, Blanca, Armelles Sebastia, Mercedes, Jané Checa, Mireia, Sierra March, Cristina, Meavilla Olivas, S., Martín Nalda, Andrea, Colobran Oriol, Roger, and Casals Senent, Teresa

Abstract

The Catalonian Newborn Screening Program (CNSP) began in 1969, in Barcelona. It was promoted by Dr. Juan Sabater Tobella and supported by Barcelona Provincial Council and Juan March Foundation. That is how the Institute of Clinical Biochemistry was born, whose aims were diagnosis, research and teaching, along with the spirit of contributing to the prevention of mental retardation. The CNSP began with the detection of phenylketonuria (PKU), and, in 1982, the Program was expanded with the inclusion of congenital hypothyroidism detection. Towards 1990, the Program covered almost 100% of all newborns (NB) in Catalonia. In 1999, the CNSP was expanded with the incorporation of cystic fibrosis. It took fourteen years, until 2013, to make the largest expansion so far, with the incorporation of 19 metabolic diseases to the screening panel. The detection of sickle cell disease began in 2015 and in 2017 the detection of severe combined immunodeficiency was included. Currently, the CNSP includes 24 diseases in its main panel. Since 1969, 2,787,807 NBs have been screened, of whom 1,724 have been diagnosed with any of these diseases, and 252 of other disorders by differential diagnosis with those included in the main panel. The global prevalence is 1: 1,617 NBs affected by any of the diseases included in the CNSP and 1: 1,140 NBs if incidental findings diagnosed through the CNSP are included., El Programa de Cribado Neonatal de Cataluña (PCNC) se inició en el año 1969, en Barcelona, impulsado por el Dr. Juan Sabater Tobella y apoyado por la Diputación de Barcelona y la Fundación Juan March. Así nació el Instituto de Bioquímica Clínica para acometer funciones asistenciales, de investigación y docencia, con el espíritu de contribuir a la prevención del retraso mental. El PCNC se inició con la detección de la fenilcetonuria (PKU) y en el año 1982 se amplió con la detección del hipotiroidismo congénito. Hacia el año 1990 la cobertura territorial llegó casi al 100% de todos los recién nacidos en Cataluña. En 1999 se amplió el PCNC con la incorporación de la fibrosis quística y tras catorce años, en 2013, se realizó la ampliación más numerosa hasta ahora, con la incorporación de la detección de 19 enfermedades metabólicas hereditarias. En el año 2015 comenzó la detección de la enfermedad de células falciformes y en el 2017 la detección de la inmunodeficiencia combinada grave. Actualmente, el PCNC incluye la detección de 24 enfermedades. Desde su inicio en el año 1969, se han cribado 2.787.807 recién nacidos, de los cuales 1.724 han sido diagnosticados de alguna de las 24 enfermedades que componen nuestro panel principal y 252 por diagnóstico diferencial de las primeras. En total la prevalencia global es de 1:1.617 RN afectos de alguna de las enfermedades incluidas en el PCNC y de 1:1.140 RN si se incluyen los hallazgos incidentales encontrados.

Published
2020

14. Impact of COVID-19 on people with cystic fibrosis

Author

Colombo, Carla, Burgel, Pierre-Regis, Gartner, Silvia, van Koningsbruggen-Rietschel, Silke, Naehrlich, Lutz, Sermet-Gaudelus, Isabelle, Southern, Kevin W., Colombo, Carla, Burgel, Pierre-Regis, Gartner, Silvia, van Koningsbruggen-Rietschel, Silke, Naehrlich, Lutz, Sermet-Gaudelus, Isabelle, and Southern, Kevin W.

Published
2020

15. The effect of premature termination codon mutations on CFTR mRNA abundance in human nasal epithelium and intestinal organoids : a basis for read-through therapies in cystic fibrosis

Author

Clarke, Luka A., Awatade, Nikhil T., Felício, Veronica M., Silva, Iris A., Calucho, Maite, Pereira, Luisa, Azevedo, Pilar, Cavaco, José, Barreto, Celeste, Bertuzzo, Carmen, Gartner, Silvia, Beekman, Jeffrey, Amaral, Margarida D., Clarke, Luka A., Awatade, Nikhil T., Felício, Veronica M., Silva, Iris A., Calucho, Maite, Pereira, Luisa, Azevedo, Pilar, Cavaco, José, Barreto, Celeste, Bertuzzo, Carmen, Gartner, Silvia, Beekman, Jeffrey, and Amaral, Margarida D.

Published
2019

16. The effect of premature termination codon mutations on CFTR mRNA abundance in human nasal epithelium and intestinal organoids : a basis for read-through therapies in cystic fibrosis

Author

Clarke, Luka A., Awatade, Nikhil T., Felício, Veronica M., Silva, Iris A., Calucho, Maite, Pereira, Luisa, Azevedo, Pilar, Cavaco, José, Barreto, Celeste, Bertuzzo, Carmen, Gartner, Silvia, Beekman, Jeffrey, Amaral, Margarida D., Clarke, Luka A., Awatade, Nikhil T., Felício, Veronica M., Silva, Iris A., Calucho, Maite, Pereira, Luisa, Azevedo, Pilar, Cavaco, José, Barreto, Celeste, Bertuzzo, Carmen, Gartner, Silvia, Beekman, Jeffrey, and Amaral, Margarida D.

Published
2019

17. The effect of premature termination codon mutations on CFTR mRNA abundance in human nasal epithelium and intestinal organoids : a basis for read-through therapies in cystic fibrosis

Author

Clarke, Luka A., Awatade, Nikhil T., Felício, Veronica M., Silva, Iris A., Calucho, Maite, Pereira, Luisa, Azevedo, Pilar, Cavaco, José, Barreto, Celeste, Bertuzzo, Carmen, Gartner, Silvia, Beekman, Jeffrey, Amaral, Margarida D., Clarke, Luka A., Awatade, Nikhil T., Felício, Veronica M., Silva, Iris A., Calucho, Maite, Pereira, Luisa, Azevedo, Pilar, Cavaco, José, Barreto, Celeste, Bertuzzo, Carmen, Gartner, Silvia, Beekman, Jeffrey, and Amaral, Margarida D.

Published
2019

18. The effect of premature termination codon mutations on CFTR mRNA abundance in human nasal epithelium and intestinal organoids: a basis for read-through therapies in cystic fibrosis

Author

dLAB Biobank, Onderzoek, Longziekten onderzoek 2, Child Health, Regenerative Medicine and Stem Cells, Clarke, Luka A., Awatade, Nikhil T., Felício, Veronica M., Silva, Iris A., Calucho, Maite, Pereira, Luisa, Azevedo, Pilar, Cavaco, José, Barreto, Celeste, Bertuzzo, Carmen, Gartner, Silvia, Beekman, Jeffrey, Amaral, Margarida D., dLAB Biobank, Onderzoek, Longziekten onderzoek 2, Child Health, Regenerative Medicine and Stem Cells, Clarke, Luka A., Awatade, Nikhil T., Felício, Veronica M., Silva, Iris A., Calucho, Maite, Pereira, Luisa, Azevedo, Pilar, Cavaco, José, Barreto, Celeste, Bertuzzo, Carmen, Gartner, Silvia, Beekman, Jeffrey, and Amaral, Margarida D.

Published
2019

19. Multicentre chest computed tomography standardisation in children and adolescents with cystic fibrosis : The way forward

Author

Kuo, Wieying, Van De Corput, Mariette P C Kemner, Perez-Rovira, Adria, De Bruijne, Marleen, Fajac, Isabelle, Tiddens, Harm A W M, Van Straten, Marcel, Berteloot, Laureline, De Boeck, Kris, Braggion, Cesare, Brismar, Torkel B., Casciaro, Rosaria, Cox, Desmond, Davies, Jane C., Van Der Ent, C. Kors, Peña, Pilar Garcia, Gartner, Silvia, De Graaf, Nanko, Hansell, David, Hjelte, Lena, Holscher, Herma C., Jeanes, Annmarie, De Jong, Pim A., Kheniche, Ahmed, Lee, Timothy, Lucigrai, Giorgio, Di Maurizio, Marco, Mehl, Anne, Munck, Anne, Nuijsink, Marianne, De La Garanderie, Jacqueline Payen, Rea, David, Sermet, Isabelle, Skalicka, Veronika, Streitparth, Florian, Reix, Philippe, Smet, Marleen, Vitouskova, Hana, Kuo, Wieying, Van De Corput, Mariette P C Kemner, Perez-Rovira, Adria, De Bruijne, Marleen, Fajac, Isabelle, Tiddens, Harm A W M, Van Straten, Marcel, Berteloot, Laureline, De Boeck, Kris, Braggion, Cesare, Brismar, Torkel B., Casciaro, Rosaria, Cox, Desmond, Davies, Jane C., Van Der Ent, C. Kors, Peña, Pilar Garcia, Gartner, Silvia, De Graaf, Nanko, Hansell, David, Hjelte, Lena, Holscher, Herma C., Jeanes, Annmarie, De Jong, Pim A., Kheniche, Ahmed, Lee, Timothy, Lucigrai, Giorgio, Di Maurizio, Marco, Mehl, Anne, Munck, Anne, Nuijsink, Marianne, De La Garanderie, Jacqueline Payen, Rea, David, Sermet, Isabelle, Skalicka, Veronika, Streitparth, Florian, Reix, Philippe, Smet, Marleen, and Vitouskova, Hana

Published
2016

20. Multicentre chest computed tomography standardisation in children and adolescents with cystic fibrosis : The way forward

Author

Kuo, Wieying, Van De Corput, Mariette P C Kemner, Perez-Rovira, Adria, De Bruijne, Marleen, Fajac, Isabelle, Tiddens, Harm A W M, Van Straten, Marcel, Berteloot, Laureline, De Boeck, Kris, Braggion, Cesare, Brismar, Torkel B., Casciaro, Rosaria, Cox, Desmond, Davies, Jane C., Van Der Ent, C. Kors, Peña, Pilar Garcia, Gartner, Silvia, De Graaf, Nanko, Hansell, David, Hjelte, Lena, Holscher, Herma C., Jeanes, Annmarie, De Jong, Pim A., Kheniche, Ahmed, Lee, Timothy, Lucigrai, Giorgio, Di Maurizio, Marco, Mehl, Anne, Munck, Anne, Nuijsink, Marianne, De La Garanderie, Jacqueline Payen, Rea, David, Sermet, Isabelle, Skalicka, Veronika, Streitparth, Florian, Reix, Philippe, Smet, Marleen, Vitouskova, Hana, Kuo, Wieying, Van De Corput, Mariette P C Kemner, Perez-Rovira, Adria, De Bruijne, Marleen, Fajac, Isabelle, Tiddens, Harm A W M, Van Straten, Marcel, Berteloot, Laureline, De Boeck, Kris, Braggion, Cesare, Brismar, Torkel B., Casciaro, Rosaria, Cox, Desmond, Davies, Jane C., Van Der Ent, C. Kors, Peña, Pilar Garcia, Gartner, Silvia, De Graaf, Nanko, Hansell, David, Hjelte, Lena, Holscher, Herma C., Jeanes, Annmarie, De Jong, Pim A., Kheniche, Ahmed, Lee, Timothy, Lucigrai, Giorgio, Di Maurizio, Marco, Mehl, Anne, Munck, Anne, Nuijsink, Marianne, De La Garanderie, Jacqueline Payen, Rea, David, Sermet, Isabelle, Skalicka, Veronika, Streitparth, Florian, Reix, Philippe, Smet, Marleen, and Vitouskova, Hana

Published
2016

21. Multicentre chest computed tomography standardisation in children and adolescents with cystic fibrosis : The way forward

Author

Kuo, Wieying, Van De Corput, Mariette P C Kemner, Perez-Rovira, Adria, De Bruijne, Marleen, Fajac, Isabelle, Tiddens, Harm A W M, Van Straten, Marcel, Berteloot, Laureline, De Boeck, Kris, Braggion, Cesare, Brismar, Torkel B., Casciaro, Rosaria, Cox, Desmond, Davies, Jane C., Van Der Ent, C. Kors, Peña, Pilar Garcia, Gartner, Silvia, De Graaf, Nanko, Hansell, David, Hjelte, Lena, Holscher, Herma C., Jeanes, Annmarie, De Jong, Pim A., Kheniche, Ahmed, Lee, Timothy, Lucigrai, Giorgio, Di Maurizio, Marco, Mehl, Anne, Munck, Anne, Nuijsink, Marianne, De La Garanderie, Jacqueline Payen, Rea, David, Sermet, Isabelle, Skalicka, Veronika, Streitparth, Florian, Reix, Philippe, Smet, Marleen, Vitouskova, Hana, Kuo, Wieying, Van De Corput, Mariette P C Kemner, Perez-Rovira, Adria, De Bruijne, Marleen, Fajac, Isabelle, Tiddens, Harm A W M, Van Straten, Marcel, Berteloot, Laureline, De Boeck, Kris, Braggion, Cesare, Brismar, Torkel B., Casciaro, Rosaria, Cox, Desmond, Davies, Jane C., Van Der Ent, C. Kors, Peña, Pilar Garcia, Gartner, Silvia, De Graaf, Nanko, Hansell, David, Hjelte, Lena, Holscher, Herma C., Jeanes, Annmarie, De Jong, Pim A., Kheniche, Ahmed, Lee, Timothy, Lucigrai, Giorgio, Di Maurizio, Marco, Mehl, Anne, Munck, Anne, Nuijsink, Marianne, De La Garanderie, Jacqueline Payen, Rea, David, Sermet, Isabelle, Skalicka, Veronika, Streitparth, Florian, Reix, Philippe, Smet, Marleen, and Vitouskova, Hana

Published
2016

22. Multicentre chest computed tomography standardisation in children and adolescents with cystic fibrosis: The way forward

Author

Longziekten patientenzorg, Infection & Immunity, Child Health, Cluster A, Researchgr. Systems Radiology, Circulatory Health, MS Radiologie, Kuo, Wieying, Van De Corput, Mariette P C Kemner, Perez-Rovira, Adria, De Bruijne, Marleen, Fajac, Isabelle, Tiddens, Harm A W M, Van Straten, Marcel, Berteloot, Laureline, De Boeck, Kris, Braggion, Cesare, Brismar, Torkel B., Casciaro, Rosaria, Cox, Desmond, Davies, Jane C., Van Der Ent, C. Kors, Peña, Pilar Garcia, Gartner, Silvia, De Graaf, Nanko, Hansell, David, Hjelte, Lena, Holscher, Herma C., Jeanes, Annmarie, De Jong, Pim A., Kheniche, Ahmed, Lee, Timothy, Lucigrai, Giorgio, Di Maurizio, Marco, Mehl, Anne, Munck, Anne, Nuijsink, Marianne, De La Garanderie, Jacqueline Payen, Rea, David, Sermet, Isabelle, Skalicka, Veronika, Streitparth, Florian, Reix, Philippe, Smet, Marleen, Vitouskova, Hana, Longziekten patientenzorg, Infection & Immunity, Child Health, Cluster A, Researchgr. Systems Radiology, Circulatory Health, MS Radiologie, Kuo, Wieying, Van De Corput, Mariette P C Kemner, Perez-Rovira, Adria, De Bruijne, Marleen, Fajac, Isabelle, Tiddens, Harm A W M, Van Straten, Marcel, Berteloot, Laureline, De Boeck, Kris, Braggion, Cesare, Brismar, Torkel B., Casciaro, Rosaria, Cox, Desmond, Davies, Jane C., Van Der Ent, C. Kors, Peña, Pilar Garcia, Gartner, Silvia, De Graaf, Nanko, Hansell, David, Hjelte, Lena, Holscher, Herma C., Jeanes, Annmarie, De Jong, Pim A., Kheniche, Ahmed, Lee, Timothy, Lucigrai, Giorgio, Di Maurizio, Marco, Mehl, Anne, Munck, Anne, Nuijsink, Marianne, De La Garanderie, Jacqueline Payen, Rea, David, Sermet, Isabelle, Skalicka, Veronika, Streitparth, Florian, Reix, Philippe, Smet, Marleen, and Vitouskova, Hana

Published
2016

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