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1. Pharmacogenomic associations of adverse drug reactions in asthma: systematic review and research prioritisation

Author

King, Charlotte, McKenna, Amanda, Farzan, Niloufar, Vijverberg, Susanne J., van der Schee, Marc P., Maitland-van der Zee, Anke H., Arianto, Lambang, Bisgaard, Hans, BØnnelykke, Klaus, Berce, Vojko, PotoČnik, Uros, Repnik, Katja, Carleton, Bruce, Daley, Denise, Chew, Fook Tim, Chiang, Wen Chin, Sio, Yang Yie, Cloutier, Michelle M., Den Dekker, Herman T., Duijts, Liesbeth, de Jongste, Johan C., Dijk, F. Nicole, Flores, Carlos, Hernandez-Pacheco, Natalia, Mukhopadhyay, Somnath, Basu, Kaninika, Tantisira, Kelan G., Verhamme, Katia M., Celedón, Juan C., Forno, Erick, Canino, Glorisa, Francis, Ben, Pirmohamed, Munir, Sinha, Ian, and Hawcutt, Daniel B.

Published
2020
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2. Correction: Pharmacogenomic associations of adverse drug reactions in asthma: systematic review and research prioritization

Author

King, Charlotte, McKenna, Amanda, Farzan, Niloufar, Vijverberg, Susanne J., van der Schee, Marc P., Maitland-van der Zee, Anke H., Arianto, Lambang, Bisgaard, Hans, BØnnelykke, Klaus, Berce, Vojko, PotoČnik, Uros, Repnik, Katja, Carleton, Bruce, Daley, Denise, Chew, Fook Tim, Chiang, Wen Chin, Sio, Yang Yie, Cloutier, Michelle M., Den Dekker, Herman T., Duijts, Liesbeth, de Jongste, Johan C., Dijk, F. Nicole, Flores, Carlos, Hernandez-Pacheco, Natalia, Mukhopadhyay, Somnath, Basu, Kaninika, Tantisira, Kelan G., Verhamme, Katia M., Celedón, Juan C., Forno, Erick, Canino, Glorisa, Francis, Ben, Pirmohamed, Munir, Sinha, Ian, and Hawcutt, Daniel B.

Published
2020
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4. TRPA1 gene polymorphisms and childhood asthma

Author

Gallo, Valentina, Dijk, F. Nicole, Holloway, John W., Ring, Susan M., Koppelman, Gerard H., Postma, Dirkje S., Strachan, David P., Granell, Raquel, de Jongste, Johan C., Jaddoe, Vincent W. V., den Dekker, Herman T., Duijts, Liesbeth, Henderson, A. John, and Shaheen, Seif O.

Published
2017
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7. Pharmacogenomic associations of adverse drug reactions in asthma:systematic review and research prioritisation

Author

King, Charlotte, McKenna, Amanda, Farzan, Niloufar, Vijverberg, Susanne J., van der Schee, Marc P., Maitland-van der Zee, Anke H., Arianto, Lambang, Bisgaard, Hans, BØnnelykke, Klaus, Berce, Vojko, Potočnik, Uroš, Repnik, Katja, Carleton, Bruce, Daley, Denise, Chew, Fook Tim, Chiang, Wen Chin, Sio, Yang Yie, Cloutier, Michelle M., Den Dekker, Herman T., Duijts, Liesbeth, de Jongste, Johan C., Dijk, F. Nicole, Koppelman, Gerard H., Flores, Carlos, Hernandez-Pacheco, Natalia, Pino-Yanes, Maria, Mukhopadhyay, Somnath, Basu, Kaninika, Bignell, Lauren, Tantisira, Kelan G., Turner, Steve, Verhamme, Katia M., Francis, Ben, Pirmohamed, Munir, Sinha, Ian, Hawcutt, Daniel B., King, Charlotte, McKenna, Amanda, Farzan, Niloufar, Vijverberg, Susanne J., van der Schee, Marc P., Maitland-van der Zee, Anke H., Arianto, Lambang, Bisgaard, Hans, BØnnelykke, Klaus, Berce, Vojko, Potočnik, Uroš, Repnik, Katja, Carleton, Bruce, Daley, Denise, Chew, Fook Tim, Chiang, Wen Chin, Sio, Yang Yie, Cloutier, Michelle M., Den Dekker, Herman T., Duijts, Liesbeth, de Jongste, Johan C., Dijk, F. Nicole, Koppelman, Gerard H., Flores, Carlos, Hernandez-Pacheco, Natalia, Pino-Yanes, Maria, Mukhopadhyay, Somnath, Basu, Kaninika, Bignell, Lauren, Tantisira, Kelan G., Turner, Steve, Verhamme, Katia M., Francis, Ben, Pirmohamed, Munir, Sinha, Ian, and Hawcutt, Daniel B.

Abstract

A systematic review of pharmacogenomic studies capturing adverse drug reactions (ADRs) related to asthma medications was undertaken, and a survey of Pharmacogenomics in Childhood Asthma (PiCA) consortia members was conducted. Studies were eligible if genetic polymorphisms were compared with suspected ADR(s) in a patient with asthma, as either a primary or secondary outcome. Five studies met the inclusion criteria. The ADRs and polymorphisms identified were change in lung function tests (rs1042713), adrenal suppression (rs591118), and decreased bone mineral density (rs6461639) and accretion (rs9896933, rs2074439). Two of these polymorphisms were replicated within the paper, but none had external replication. Priorities from PiCA consortia members (representing 15 institution in eight countries) for future studies were tachycardia (SABA/LABA), adrenal suppression/crisis and growth suppression (corticosteroids), sleep/behaviour disturbances (leukotriene receptor antagonists), and nausea and vomiting (theophylline). Future pharmacogenomic studies in asthma should collect relevant ADR data as well as markers of efficacy.

Published
2020

8. Phenotypic and functional translation of IL33 genetics in asthma

Author

Ketelaar, Maria E., primary, Portelli, Michael A., additional, Dijk, F. Nicole, additional, Shrine, Nick, additional, Faiz, Alen, additional, Vermeulen, Cornelis J., additional, Xu, Cheng J., additional, Hankinson, Jenny, additional, Bhaker, Sangita, additional, Henry, Amanda P., additional, Billington, Charlote K., additional, Shaw, Dominick E., additional, Johnson, Simon R., additional, Benest, Andrew V., additional, Pang, Vincent, additional, Bates, David O., additional, Pogson, Z.E.K., additional, Fogarty, Andrew, additional, McKeever, Tricia M., additional, Singapuri, Amisha, additional, Heaney, Liam G., additional, Mansur, Adel H., additional, Chaudhuri, Rekha, additional, Thomson, Neil C., additional, Holloway, John W., additional, Lockett, Gabrielle A., additional, Howarth, Peter H., additional, Niven, Robert, additional, Simpson, Angela, additional, Tobin, Martin D., additional, Hall, Ian P., additional, Wain, Louise V., additional, Blakey, John D., additional, Brightling, Christopher E., additional, Obeidat, Ma'en, additional, Sin, Don D., additional, Nickle, David C., additional, Bossé, Yohan, additional, Vonk, Judith M., additional, van den Berge, Maarten, additional, Koppelman, Gerard H., additional, Sayers, Ian, additional, and Nawijn, Martijn C., additional

Published
2021
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11. Phenotypic and functional translation of IL1RL1 locus polymorphisms in lung tissue and asthmatic airway epithelium

Author

Portelli, Michael A., primary, Dijk, F. Nicole, additional, Ketelaar, Maria E., additional, Shrine, Nick, additional, Hankinson, Jenny, additional, Bhaker, Sangita, additional, Grotenboer, Néomi S., additional, Obeidat, Ma’en, additional, Henry, Amanda P., additional, Billington, Charlotte K., additional, Shaw, Dominick, additional, Johnson, Simon R., additional, Pogson, Zara E.K., additional, Fogarty, Andrew, additional, McKeever, Tricia M., additional, Nickle, David C., additional, Bossé, Yohan, additional, van den Berge, Maarten, additional, Faiz, Alen, additional, Brouwer, Sharon, additional, Vonk, Judith M., additional, de Vos, Paul, additional, Brandsma, Corry-Anke, additional, Vermeulen, Cornelis J., additional, Singapuri, Amisha, additional, Heaney, Liam G., additional, Mansur, Adel H., additional, Chaudhuri, Rekha, additional, Thomson, Neil C., additional, Holloway, John W., additional, Lockett, Gabrielle A., additional, Howarth, Peter H., additional, Niven, Robert, additional, Simpson, Angela, additional, Blakey, John D., additional, Tobin, Martin D., additional, Postma, Dirkje S., additional, Hall, Ian P., additional, Wain, Louise V., additional, Nawijn, Martijn C., additional, Brightling, Christopher E., additional, Koppelman, Gerard H., additional, and Sayers, Ian, additional

Published
2020
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12. IL1RL1 gene variations are associated with asthma exacerbations in children and adolescents using inhaled corticosteroids

Author

Dijk, F. Nicole, primary, Vijverberg, Susanne J., additional, Hernandez‐Pacheco, Natalia, additional, Repnik, Katja, additional, Karimi, Leila, additional, Mitratza, Marianna, additional, Farzan, Niloufar, additional, Nawijn, Martijn C., additional, Burchard, Esteban G., additional, Engelkes, Marjolein, additional, Verhamme, Katia M., additional, Potočnik, Uroš, additional, Pino‐Yanes, Maria, additional, Postma, Dirkje S., additional, Maitland‐van der Zee, Anke‐Hilse, additional, and Koppelman, Gerard H., additional

Published
2019
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13. Genetic regulation ofmethylation and IL1RL1-a protein levels in asthma

Author

Dijk, F Nicole, Xu, Chengjian, Melén, Erik, Carsin, Anne-Elie, Kumar, Asish, Nolte, Ilja M, Gruzieva, Olena, Pershagen, Goran, Grotenboer, Neomi S, Savenije, Olga E M, Antó, Josep Maria, Lavi, Iris, Dobaño, Carlota, Bousquet, Jean, van der Vlies, Pieter, van der Valk, Ralf J P, de Jongste, Johan C, Nawijn, Martijn C, Guerra, Stefano, Postma, Dirkje S, Koppelman, Gerard H, Life Course Epidemiology (LCE), and Groningen Research Institute for Asthma and COPD (GRIAC)

Subjects
VARIANT FORM, CYTOKINE, AIRWAY INFLAMMATION, PROMOTER, HUMAN ST2 GENE, Journal Article, IL-33, GENOME-WIDE ASSOCIATION, RECEPTOR-LIKE 1, POLYMORPHISMS, METAANALYSIS, respiratory tract diseases
Abstract

Interleukin-1 receptor-like 1 (IL1RL1) is an important asthma gene. (Epi)genetic regulation ofIL1RL1protein expression has not been established. We assessed the association betweenIL1RL1single nucleotide polymorphisms (SNPs),IL1RL1methylation and serum IL1RL1-a protein levels, and aimed to identify causal pathways in asthma.Associations ofIL1RL1SNPs with asthma were determined in the Dutch Asthma Genome-wide Association Study cohort and three European birth cohorts, BAMSE (Children/Barn, Allergy, Milieu, Stockholm, an Epidemiological survey), INMA (Infancia y Medio Ambiente) and PIAMA (Prevention and Incidence of Asthma and Mite Allergy), participating in the Mechanisms of the Development of Allergy study. We performed blood DNAIL1RL1methylation quantitative trait locus (QTL) analysis (n=496) and (epi)genome-wide protein QTL analysis on serum IL1RL1-a levels (n=1462). We investigated the association ofIL1RL1CpG methylation with asthma (n=632) and IL1RL1-a levels (n=548), with subsequent causal inference testing. Finally, we determined the association of IL1RL1-a levels with asthma and its clinical characteristics (n=1101).IL1RL1asthma-risk SNPs strongly associated withIL1RL1methylation (rs1420101; p=3.7×10-16) and serum IL1RL1-a levels (p=2.8×10-56).IL1RL1methylation was not associated with asthma or IL1RL1-a levels. IL1RL1-a levels negatively correlated with blood eosinophil counts, whereas there was no association between IL1RL1-a levels and asthma.In conclusion, asthma-associatedIL1RL1SNPs strongly regulateIL1RL1methylation and serum IL1RL1-a levels, yet neither theseIL1RL1-methylation CpG sites nor IL1RL1-a levels are associated with asthma.

Published
2018

14. Epigenome-wide association study identifies DNA methylation markers for asthma remission in whole blood and nasal epithelium.

Author

Qi, Cancan, Vonk, Judith M., van der Plaat, Diana A., Nieuwenhuis, Maartje A. E., Dijk, F. Nicole, Aïssi, Dylan, Siroux, Valérie, Boezen, H. Marike, Xu, Cheng-jian, and Koppelman, Gerard H.

Subjects
NASAL mucosa, DNA methylation, GENETIC markers, BRONCHIAL spasm, ASTHMA, PATIENTS' attitudes, EPIGENOMICS
Abstract

Background: Asthma is a chronic respiratory disease which is not curable, yet some patients experience spontaneous remission. We hypothesized that epigenetic mechanisms may be involved in asthma remission. Methods: Clinical remission (ClinR) was defined as the absence of asthma symptoms and medication for at least 12 months, and complete remission (ComR) was defined as ClinR with normal lung function and absence of airway hyperresponsiveness. We analyzed differential DNA methylation of ClinR and ComR comparing to persistent asthma (PersA) in whole blood samples (n = 72) and nasal brushing samples (n = 97) in a longitudinal cohort of well characterized asthma patients. Significant findings of whole blood DNA methylation were tested for replication in two independent cohorts, Lifelines and Epidemiological study on the Genetics and Environment of Asthma (EGEA). Results: We identified differentially methylated CpG sites associated with ClinR (7 CpG sites) and ComR (129 CpG sites) in whole blood. One CpG (cg13378519, Chr1) associated with ClinR was replicated and annotated to PEX11 (Peroxisomal Biogenesis Factor 11 Beta). The whole blood DNA methylation levels of this CpG were also different between ClinR and healthy subjects. One ComR-associated CpG (cg24788483, Chr10) that annotated to TCF7L2 (Transcription Factor 7 Like 2) was replicated and associated with expression of TCF7L2 gene. One out of seven ClinR-associated CpG sites and 8 out of 129 ComR-associated CpG sites identified from whole blood samples showed nominal significance (P < 0.05) and the same direction of effect in nasal brushes. Conclusion: We identified DNA methylation markers possibly associated with clinical and complete asthma remission in nasal brushes and whole blood, and two CpG sites identified from whole blood can be replicated in independent cohorts and may play a role in peroxisome proliferation and Wnt signaling pathway. [ABSTRACT FROM AUTHOR]

Published
2020
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15. IL1RL1 gene variations are associated with asthma exacerbations in children and adolescents using inhaled corticosteroids.

Author

Dijk, F. Nicole, Vijverberg, Susanne J., Hernandez‐Pacheco, Natalia, Repnik, Katja, Karimi, Leila, Mitratza, Marianna, Farzan, Niloufar, Nawijn, Martijn C., Burchard, Esteban G., Engelkes, Marjolein, Verhamme, Katia M., Potočnik, Uroš, Pino‐Yanes, Maria, Postma, Dirkje S., Maitland‐van der Zee, Anke‐Hilse, and Koppelman, Gerard H.

Subjects
*ASTHMA in children, *GAIN-of-function mutations, *MITOGEN-activated protein kinases
Abstract

To the editor, Asthma, one of the most common chronic diseases in childhood, is caused by interactions between genes and environmental factors. Since the IL-33/IL1RL1 pathway has been associated with eosinophilic, type 2, inflammation, we hypothesized that I IL1RL1 i SNPs may affect corticosteroid treatment response in asthma patients. No association between I IL1RL1 i and questionnaire-based asthma control was found. [Extracted from the article]

Published
2020
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16. Genetic regulation of IL1RL1 methylation and IL1RL1-a protein levels in asthma

Author

Dijk, F. Nicole, primary, Xu, Chengjian, additional, Melén, Erik, additional, Carsin, Anne-Elie, additional, Kumar, Asish, additional, Nolte, Ilja M., additional, Gruzieva, Olena, additional, Pershagen, Goran, additional, Grotenboer, Neomi S., additional, Savenije, Olga E.M., additional, Antó, Josep Maria, additional, Lavi, Iris, additional, Dobaño, Carlota, additional, Bousquet, Jean, additional, van der Vlies, Pieter, additional, van der Valk, Ralf J.P., additional, de Jongste, Johan C., additional, Nawijn, Martijn C., additional, Guerra, Stefano, additional, Postma, Dirkje S., additional, and Koppelman, Gerard H., additional

Published
2018
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17. Rationale and design of the multiethnic Pharmacogenomics in Childhood Asthma consortium

Author

Farzan, Niloufar, Vijverberg, Susanne J, Andiappan, Anand K, Arianto, Lambang, Berce, Vojko, Blanca-López, Natalia, Bisgaard, Hans, Bønnelykke, Klaus, Burchard, Esteban G, Campo, Paloma, Canino, Glorisa, Carleton, Bruce, Celedón, Juan C, Chew, Fook Tim, Chiang, Wen Chin, Cloutier, Michelle M, Daley, Denis, Den Dekker, Herman T, Dijk, F Nicole, Duijts, Liesbeth, Flores, Carlos, Forno, Erick, Hawcutt, Daniel B, Hernandez-Pacheco, Natalia, de Jongste, Johan C, Kabesch, Michael, Koppelman, Gerard H, Manolopoulos, Vangelis G, Melén, Erik, Mukhopadhyay, Somnath, Nilsson, Sara, Palmer, Colin N, Pino-Yanes, Maria, Pirmohamed, Munir, Potočnik, Uros, Raaijmakers, Jan A, Repnik, Katja, Schieck, Maximilian, Sio, Yang Yie, Smyth, Rosalind L, Szalai, Csaba, Tantisira, Kelan G, Turner, Steve, van der Schee, Marc P, Verhamme, Katia M, Maitland-van der Zee, Anke H, Farzan, Niloufar, Vijverberg, Susanne J, Andiappan, Anand K, Arianto, Lambang, Berce, Vojko, Blanca-López, Natalia, Bisgaard, Hans, Bønnelykke, Klaus, Burchard, Esteban G, Campo, Paloma, Canino, Glorisa, Carleton, Bruce, Celedón, Juan C, Chew, Fook Tim, Chiang, Wen Chin, Cloutier, Michelle M, Daley, Denis, Den Dekker, Herman T, Dijk, F Nicole, Duijts, Liesbeth, Flores, Carlos, Forno, Erick, Hawcutt, Daniel B, Hernandez-Pacheco, Natalia, de Jongste, Johan C, Kabesch, Michael, Koppelman, Gerard H, Manolopoulos, Vangelis G, Melén, Erik, Mukhopadhyay, Somnath, Nilsson, Sara, Palmer, Colin N, Pino-Yanes, Maria, Pirmohamed, Munir, Potočnik, Uros, Raaijmakers, Jan A, Repnik, Katja, Schieck, Maximilian, Sio, Yang Yie, Smyth, Rosalind L, Szalai, Csaba, Tantisira, Kelan G, Turner, Steve, van der Schee, Marc P, Verhamme, Katia M, and Maitland-van der Zee, Anke H

Abstract

AIM: International collaboration is needed to enable large-scale pharmacogenomics studies in childhood asthma. Here, we describe the design of the Pharmacogenomics in Childhood Asthma (PiCA) consortium.MATERIALS & METHODS: Investigators of each study participating in PiCA provided data on the study characteristics by answering an online questionnaire.RESULTS: A total of 21 studies, including 14,227 children/young persons (58% male), from 12 different countries are currently enrolled in the PiCA consortium. Fifty six percent of the patients are Caucasians. In total, 7619 were inhaled corticosteroid users. Among patients from 13 studies with available data on asthma exacerbations, a third reported exacerbations despite inhaled corticosteroid use. In the future pharmacogenomics studies within the consortium, the pharmacogenomics analyses will be performed separately in each center and the results will be meta-analyzed.CONCLUSION: PiCA is a valuable platform to perform pharmacogenetics studies within a multiethnic pediatric asthma population.

Published
2017

18. Associations between the 17q21 region and allergic rhinitis in 5 birth cohorts

Author

Fuertes, Elaine, Söderhäll, Cilla, Acevedo, Nathalie, Becker, Allan, Brauer, Michael, Chan-Yeung, Moira, Dijk, F. Nicole, Heinrich, Joachim, de Jongste, Johan, Koppelman, Gerard H., Postma, Dirkje S., Kere, Juha, Kozyrskyj, Anita L., Pershagen, Göran, Sandford, Andrew, Standl, Marie, Tiesler, Carla M.T., Waldenberger, Melanie, Westman, Marit, Carlsten, Christopher, and Melén, Erik

Published
2015
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19. Rationale and design of the multiethnic Pharmacogenomics in Childhood Asthma consortium

Author

Farzan, Niloufar, primary, Vijverberg, Susanne J, additional, Andiappan, Anand K, additional, Arianto, Lambang, additional, Berce, Vojko, additional, Blanca-López, Natalia, additional, Bisgaard, Hans, additional, Bønnelykke, Klaus, additional, Burchard, Esteban G, additional, Campo, Paloma, additional, Canino, Glorisa, additional, Carleton, Bruce, additional, Celedón, Juan C, additional, Chew, Fook Tim, additional, Chiang, Wen Chin, additional, Cloutier, Michelle M, additional, Daley, Denis, additional, Den Dekker, Herman T, additional, Dijk, F Nicole, additional, Duijts, Liesbeth, additional, Flores, Carlos, additional, Forno, Erick, additional, Hawcutt, Daniel B, additional, Hernandez-Pacheco, Natalia, additional, de Jongste, Johan C, additional, Kabesch, Michael, additional, Koppelman, Gerard H, additional, Manolopoulos, Vangelis G, additional, Melén, Erik, additional, Mukhopadhyay, Somnath, additional, Nilsson, Sara, additional, Palmer, Colin N, additional, Pino-Yanes, Maria, additional, Pirmohamed, Munir, additional, Potočnki, Uros, additional, Raaijmakers, Jan A, additional, Repnik, Katja, additional, Schieck, Maximilian, additional, Sio, Yang Yie, additional, Smyth, Rosalind L, additional, Szalai, Csaba, additional, Tantisira, Kelan G, additional, Turner, Steve, additional, van der Schee, Marc P, additional, Verhamme, Katia M, additional, and Maitland-van der Zee, Anke H, additional

Published
2017
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20. TRPA1 gene polymorphisms and childhood asthma

Author

Gallo, Valentina, primary, Dijk, F. Nicole, additional, Holloway, John W., additional, Ring, Susan M., additional, Koppelman, Gerard H., additional, Postma, Dirkje S., additional, Strachan, David P., additional, Granell, Raquel, additional, de Jongste, Johan C., additional, Jaddoe, Vincent W. V., additional, den Dekker, Herman T., additional, Duijts, Liesbeth, additional, Henderson, A. John, additional, and Shaheen, Seif O., additional

Published
2016
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21. Association of IL33-IL-1 receptor-like 1 (IL1RL1) pathway polymorphisms with wheezing phenotypes and asthma in childhood

Author

Dep IRAS, LS IRAS EEPI ME (Milieu epidemiologie), Risk Assessment of Toxic and Immunomodulatory Agents, IRAS RATIA2, Savenije, Olga E., John, Jestinah M. Mahachie, Granell, Raquel, Kerkhof, Marjan, Dijk, F. Nicole, de Jongste, Johan C., Smit, Henriette A., Brunekreef, Bert, Postma, Dirkje S., Van Steen, Kristel, Henderson, John, Koppelman, Gerard H., Dep IRAS, LS IRAS EEPI ME (Milieu epidemiologie), Risk Assessment of Toxic and Immunomodulatory Agents, IRAS RATIA2, Savenije, Olga E., John, Jestinah M. Mahachie, Granell, Raquel, Kerkhof, Marjan, Dijk, F. Nicole, de Jongste, Johan C., Smit, Henriette A., Brunekreef, Bert, Postma, Dirkje S., Van Steen, Kristel, Henderson, John, and Koppelman, Gerard H.

Published
2014

23. Improved survival in cystic fibrosis patients diagnosed by newborn screening compared to a historical cohort from the same centre

Author

Karen McKay, Kevin J. Gaskin, Federica Barzi, F. Nicole Dijk, Dominic A. Fitzgerald, Faculteit Medische Wetenschappen/UMCG, Dijk, F Nicole, McKay, Karen, Barzi, Federica, Gaskin, Kevin J, and Fitzgerald, Dominic A

Subjects
Male, Pediatrics, Cystic Fibrosis, spirometry, CHILDREN, Cystic fibrosis, Body Mass Index, cystic fibrosis, WALES, Medicine, OUTCOMES, Anthropometry, medicine.diagnostic_test, Age Factors, Prognosis, Pseudomonas aeruginosa, Cohort, GROWTH, Female, New South Wales, Historical Cohort, Spirometry, medicine.medical_specialty, LONG-TERM, Nutritional Status, Opportunistic Infections, Neonatal Screening, Humans, Pseudomonas Infections, Survival analysis, Newborn screening, newborn screening, ACQUISITION, business.industry, Body Weight, Infant, Newborn, Sputum, PSEUDOMONAS-AERUGINOSA, Retrospective cohort study, medicine.disease, Survival Analysis, Body Height, LIFE, Early Diagnosis, Pediatrics, Perinatology and Child Health, Respiratory Mechanics, Epidemiologic Methods, business, Body mass index
Abstract

Background: Newborn screening (NBS) for cystic fibrosis (CF) is associated with improved early nutritional outcomes and improved spirometry in children. The aim of this study was to determine whether early diagnosis and treatment of CF with NBS in New South Wales in1981 led to better clinical outcomes and survival into early adulthood. Methods: Retrospective observational study comprising two original cohorts born in the 3 years before (‘non-screened cohort’, n=57) and after(‘screened’; n=60) the introduction of NBS. Patient records were assessed at transfer from paediatric to adult care by age 19 years and survival was documented to age 25 years. Results: Non-screened patients (n=38) when compared with screened patients (n=41) had a higher rate and lower age of Pseudomonas aeruginosa acquisition at age 18 years (p≤0.01). Height, weight and body mass index (BMI) z scores (all p

Published
2011

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